mutation n_samples median_dna_vaf ensg genetic type is_driver PIK3CA@p.E545K 27 0.333333333 ENSG00000121879 chr3:179218303-179218303;G/A missense_variant True ERBB2@p.S310F 19 0.25462963 ENSG00000141736 chr17:39711955-39711955;C/T missense_variant True PIK3CA@p.E542K 18 0.41548583 ENSG00000121879 chr3:179218294-179218294;G/A missense_variant True TP53@p.R248Q 17 0.625 ENSG00000141510 chr17:7674220-7674220;C/T missense_variant True TP53@p.R280T 11 0.64 ENSG00000141510 chr17:7673781-7673781;C/G missense_variant True RXRA@p.S427F 11 0.333333333 ENSG00000186350 chr9:134436505-134436505;C/T missense_variant False TP53@p.E285K 10 0.3943965514999999 ENSG00000141510 chr17:7673767-7673767;C/T missense_variant True FBXW7@p.R505G 10 0.179978671 ENSG00000109670 chr4:152326137-152326137;G/C missense_variant True ERCC2@p.N238S 9 0.348837209 ENSG00000104884 chr19:45364429-45364429;T/C missense_variant False AHR@p.Q383H 8 0.2490788505 ENSG00000106546 chr7:17335775-17335775;G/C missense_variant False SF3B1@p.E902K 8 0.393939394 ENSG00000115524 chr2:197400729-197400729;C/T missense_variant True C3orf70@p.S6L 8 0.2960526315 chr3:185152807-185152807;G/A missense_variant False RHOB@p.E172K 7 0.372340426 ENSG00000143878 chr2:20447979-20447979;G/A missense_variant False KRAS@p.G12D 6 0.568181818 ENSG00000133703 chr12:25245350-25245350;C/T missense_variant True RARS2@p.R6C 6 0.4022113025 ENSG00000146282 chr6:87589942-87589942;G/A missense_variant False TP53@p.S241F 5 0.325581395 ENSG00000141510 chr17:7674241-7674241;G/A missense_variant True TP53@p.E271K 5 0.619047619 ENSG00000141510 chr17:7673809-7673809;C/T missense_variant True TP53@p.R273C 5 0.588235294 ENSG00000141510 chr17:7673803-7673803;G/A missense_variant True PIK3CA@p.H1047R 5 0.172839506 ENSG00000121879 chr3:179234297-179234297;A/G missense_variant True NFE2L2@p.R34G 5 0.597222222 ENSG00000116044 chr2:177234217-177234217;G/C missense_variant True MROH2B@p.E1109K 5 0.264367816 ENSG00000171495 chr5:41009375-41009375;C/T missense_variant False ACTB@p.G158R 5 0.263736264 ENSG00000075624 chr7:5528611-5528611;C/T missense_variant False NFE2L2@p.E79K 4 0.3214285715 ENSG00000116044 chr2:177234082-177234082;C/T missense_variant True ACSS3@p.S290L 4 0.4127158325 ENSG00000111058 chr12:81143195-81143195;C/T missense_variant False BCAS3@p.T214M 4 0.1642156865 ENSG00000141376 chr17:60874718-60874718;C/T missense_variant False H2BC21@p.F71L 4 0.144984829 ENSG00000184678 chr1:149886428-149886428;G/C missense_variant False CUL1@p.D483N 4 0.3703007514999999 ENSG00000055130 chr7:148787088-148787088;G/A missense_variant False PPCS@p.S113L 4 0.204774645 ENSG00000127125 chr1:42456903-42456903;C/T missense_variant False EEF1AKMT4-ECE2@p.V821M 4 0.198130841 ENSG00000284917 chr3:184291425-184291425;G/A missense_variant False TP53@p.R248W 4 0.2948861515 ENSG00000141510 chr17:7674221-7674221;G/A missense_variant True SRPRB@p.G14S 4 0.2864013265 ENSG00000144867 chr3:133805888-133805888;G/A missense_variant False SPAG17@p.K540N 4 0.2722862345 ENSG00000155761 chr1:118086064-118086064;C/G missense_variant False SLC6A9@p.R243W 4 0.131176999 ENSG00000196517 chr1:44008435-44008435;G/A missense_variant False PBX2@p.E70K 4 0.3928571429999999 ENSG00000204304 chr6:32189708-32189708;C/T missense_variant False CELSR3@p.E356K 4 0.2430703624999999 ENSG00000008300 chr3:48661569-48661569;C/T missense_variant False TP53@p.R280K 4 0.592953523 ENSG00000141510 chr17:7673781-7673781;C/T missense_variant True PAK3@p.P539T 3 0.333333333 ENSG00000077264 chrX:111220382-111220382;C/A missense_variant False GNA13@p.R200G 3 0.38028169 ENSG00000120063 chr17:65014793-65014793;T/C missense_variant False CDKN1A@p.M38Nfs*10 3 0.342857143 ENSG00000124762 chr6:36684210-36684211;-/T frameshift_variant False TIAM1@p.E814K 3 0.107142857 ENSG00000156299 chr21:31202961-31202961;C/T missense_variant False TP53@p.A159V 3 0.76 ENSG00000141510 chr17:7675136-7675136;G/A missense_variant True EHMT1@p.R1054K 3 0.381818182 ENSG00000181090 chr9:137813511-137813511;G/A missense_variant False DYRK4@p.A244G 3 0.168224299 ENSG00000010219 chr12:4599738-4599738;C/G missense_variant False OR2T6@p.V44I 3 0.189655172 ENSG00000198104 chr1:248387738-248387738;G/A missense_variant False TTC25@p.M164I 3 0.168831169 None chr17:41936794-41936794;G/A missense_variant False SYNRG@p.S833C 3 0.16 ENSG00000275066 chr17:37553225-37553225;G/C missense_variant False DISP1@p.Q1307H 3 0.161764706 ENSG00000154309 chr1:223005318-223005318;G/C missense_variant False GABRA1@p.R94H 3 0.157480315 ENSG00000022355 chr5:161873142-161873142;G/A missense_variant False LILRA2@p.S37F 3 0.288888889 ENSG00000239998 chr19:54574340-54574340;C/T missense_variant False CDKN2A@p.D108N 3 0.379310345 ENSG00000147889 chr9:21971037-21971037;C/T missense_variant True PTPRK@p.A407V 3 0.10989011 ENSG00000152894 chr6:128089935-128089935;G/A missense_variant False GRIA4@p.G326A 3 0.428571429 ENSG00000152578 chr11:105903905-105903905;G/C missense_variant False XIRP2@p.K2727R 3 0.279069767 ENSG00000163092 chr2:167250097-167250097;A/G missense_variant False HRAS@p.Q61K 3 0.5 ENSG00000174775 chr11:533875-533875;G/T missense_variant True HRAS@p.Q61L 3 0.666666667 ENSG00000174775 chr11:533874-533874;T/A missense_variant True OR2Z1@p.V273M 3 0.18852459 ENSG00000181733 chr19:8731845-8731845;G/A missense_variant False ZBTB7B@p.K388N 3 0.338983051 ENSG00000160685 chr1:155016229-155016229;G/T missense_variant False CATSPER2@p.T25A 3 0.160714286 ENSG00000166762 chr15:43647989-43647989;T/C missense_variant False DNAJB11@p.E174Q 3 0.130081301 ENSG00000090520 chr3:186581434-186581434;G/C missense_variant False UNC13D@p.E1017K 3 0.341463415 ENSG00000092929 chr17:75828889-75828889;C/T missense_variant False ZNF883@p.Q312H 3 0.379562044 ENSG00000228623 chr9:112997324-112997324;C/G missense_variant False RIPK1@p.R317T 3 0.532786885 ENSG00000137275 chr6:3104259-3104259;G/C missense_variant False FREM2@p.V1575M 3 0.130081301 ENSG00000150893 chr13:38692067-38692067;G/A missense_variant False MYH7@p.R663H 3 0.294117647 ENSG00000092054 chr14:23426833-23426833;C/T missense_variant False MPHOSPH8@p.D449H 3 0.166666667 ENSG00000196199 chr13:19650029-19650029;G/C missense_variant False AHNAK2@p.R656C 3 0.174528302 ENSG00000185567 chr14:104953485-104953485;G/A missense_variant False C12orf43@p.E28K 3 0.338983051 chr12:121016393-121016393;C/T missense_variant False RMC1@p.E503K 3 0.182186235 ENSG00000141452 chr18:23530040-23530040;G/A missense_variant False LTBP1@p.Q928H 3 0.201923077 ENSG00000049323 chr2:33275005-33275005;G/C missense_variant False UNC93B1@p.S212C 3 0.111111111 ENSG00000110057 chr11:67999225-67999225;G/C missense_variant False UPB1@p.N206K 3 0.698412698 ENSG00000100024 chr22:24513482-24513482;C/A missense_variant False TP53@p.K132N 3 0.529411765 ENSG00000141510 chr17:7675216-7675216;C/G missense_variant True NINL@p.E290Q 3 0.21875 ENSG00000101004 chr20:25501004-25501004;C/G missense_variant False CFAP70@p.Q750E 3 0.161290323 ENSG00000156042 chr10:73291427-73291427;G/C missense_variant False TP53@p.R158H 3 0.4 ENSG00000141510 chr17:7675139-7675139;C/T missense_variant True TP53@p.R175H 3 0.577319588 ENSG00000141510 chr17:7675088-7675088;C/T missense_variant True CUL1@p.E485K 3 0.308411215 ENSG00000055130 chr7:148787094-148787094;G/A missense_variant False SHANK1@p.E570K 3 0.291666667 ENSG00000161681 chr19:50702506-50702506;C/T missense_variant False CUBN@p.S540P 3 0.141414141 ENSG00000107611 chr10:17100152-17100152;A/G missense_variant False ANK2@p.R3842Q 3 0.24 ENSG00000145362 chr4:113369720-113369720;G/A missense_variant False P3H1@p.R547C 3 0.25 ENSG00000117385 chr1:42750267-42750267;G/A missense_variant False FLG@p.E3753D 3 0.134495641 ENSG00000143631 chr1:152303627-152303627;C/A missense_variant False RADIL@p.S715T 3 0.297297297 ENSG00000157927 chr7:4805712-4805712;C/G missense_variant False TCFL5@p.S282A 3 0.141666667 ENSG00000101190 chr20:62859514-62859514;A/C missense_variant False MYO1F@p.E173Q 3 0.059171598 ENSG00000142347 chr19:8552152-8552152;C/G missense_variant False FKBP5@p.Y278C 3 0.504854369 ENSG00000096060 chr6:35587041-35587041;T/C missense_variant False PMM1@p.D74H 3 0.156716418 ENSG00000100417 chr22:41584589-41584589;C/G missense_variant False RNF123@p.L209V 3 0.4 ENSG00000164068 chr3:49698809-49698809;C/G missense_variant False CNTNAP4@p.R924K 3 0.116883117 ENSG00000152910 chr16:76535560-76535560;G/A missense_variant False HMCN1@p.G4116R 3 0.152173913 ENSG00000143341 chr1:186123067-186123067;G/A missense_variant False CRAT@p.Q405R 3 0.211111111 ENSG00000095321 chr9:129098363-129098363;T/C missense_variant False ADAMTS14@p.D1208H 3 0.268115942 ENSG00000138316 chr10:70760803-70760803;G/C missense_variant False SHPRH@p.M185V 3 0.212389381 ENSG00000146414 chr6:145954770-145954770;T/C missense_variant False RNASEL@p.N233S 3 0.203389831 ENSG00000135828 chr1:182586109-182586109;T/C missense_variant False PMS1@p.N531S 3 0.5 ENSG00000064933 chr2:189854864-189854864;A/G missense_variant False F8@p.G2128A 3 0.36746988 ENSG00000185010 chrX:154896123-154896123;C/G missense_variant False GABBR2@p.E230K 3 0.119402985 ENSG00000136928 chr9:98496457-98496457;C/T missense_variant False CACNA2D2@p.N1102K 3 0.425 ENSG00000007402 chr3:50364894-50364894;G/T missense_variant False FOS@p.R143Q 3 0.19047619 ENSG00000170345 chr14:75280594-75280594;G/A missense_variant False MYH4@p.Q291E 3 0.244680851 ENSG00000264424 chr17:10463123-10463123;G/C missense_variant False PLXNA4@p.G643S 3 0.387755102 ENSG00000221866 chr7:132226216-132226216;C/T missense_variant False MAGEE2@p.L380P 3 0.319672131 ENSG00000186675 chrX:75783913-75783913;A/G missense_variant False SERPINB13@p.F28L 3 0.209677419 ENSG00000197641 chr18:63588751-63588751;C/G missense_variant False ERCC2@p.Y14C 3 0.171428571 ENSG00000104884 chr19:45370197-45370197;T/C missense_variant False DUSP14@p.M18I 3 0.3125 ENSG00000276023 chr17:37512326-37512326;G/A missense_variant False CNGA1@p.S275F 3 0.313559322 ENSG00000198515 chr4:47937658-47937658;G/A missense_variant False CYP2U1@p.D338N 3 0.204301075 ENSG00000155016 chr4:107945491-107945491;G/A missense_variant False COMMD6@p.D21H 3 0.16 ENSG00000188243 chr13:75530260-75530260;C/G missense_variant False PDE1C@p.R522G 3 0.163793103 ENSG00000154678 chr7:31823091-31823091;T/C missense_variant False ANO4@p.P852T 3 0.152542373 ENSG00000151572 chr12:101116782-101116782;C/A missense_variant False ERCC2@p.Y72C 3 0.220689655 ENSG00000104884 chr19:45368961-45368961;T/C missense_variant False DNAAF2@p.R254C 3 0.166666667 ENSG00000165506 chr14:49634390-49634390;G/A missense_variant False KMT2C@p.E495Q 3 0.176470588 ENSG00000055609 chr7:152252077-152252077;C/G missense_variant True PLEKHG5@p.R897C 3 0.233333333 ENSG00000171680 chr1:6468258-6468258;G/A missense_variant False GUCY1A1@p.I371M 3 0.326923077 ENSG00000164116 chr4:155713124-155713124;C/G missense_variant False H2BC18@p.F71L 3 0.122969838 ENSG00000203814 chr1:149812111-149812111;G/C missense_variant False ERCC2@p.S44L 3 0.197183099 ENSG00000104884 chr19:45369122-45369122;G/A missense_variant False NES@p.E2Q 3 0.222222222 ENSG00000132688 chr1:156677261-156677261;C/G missense_variant False ARHGEF5@p.G874S 3 0.346153846 ENSG00000050327 chr7:144365289-144365289;G/A missense_variant False BAG4@p.P205S 3 0.144329897 ENSG00000156735 chr8:38207746-38207746;C/T missense_variant False FERD3L@p.Y4C 3 0.170731707 ENSG00000146618 chr7:19145352-19145352;T/C missense_variant False NUFIP2@p.Q493E 3 0.214285714 ENSG00000108256 chr17:29286517-29286517;G/C missense_variant False IGKV3-20@p.S42P 3 0.161764706 ENSG00000239951 chr2:89142798-89142798;A/G missense_variant False YAE1@p.E184Q 3 0.19 ENSG00000241127 chr7:39572575-39572575;G/C missense_variant False FGD1@p.V366L 3 0.733333333 ENSG00000102302 chrX:54470021-54470021;C/A missense_variant False ARID1A@p.N1040Sfs*6 3 0.32885906 ENSG00000117713 chr1:26767918-26767919;AA/- frameshift_variant True MAN2A2@p.E66D 3 0.510067114 ENSG00000196547 chr15:90905316-90905316;G/C missense_variant False RARA@p.R294W 3 0.155844156 ENSG00000131759 chr17:40354374-40354374;C/T missense_variant False CENPE@p.F822L 3 0.137254902 ENSG00000138778 chr4:103159145-103159145;G/C missense_variant False COL9A2@p.G671A 3 0.5 ENSG00000049089 chr1:40301240-40301240;C/G missense_variant False STAG2@p.S704L 3 0.320987654 ENSG00000101972 chrX:124066189-124066189;C/T missense_variant True YIPF6@p.T133I 3 0.153846154 ENSG00000181704 chrX:68521461-68521461;C/T missense_variant False TFPI2@p.R222C 3 0.2 ENSG00000105825 chr7:93886864-93886864;G/A missense_variant False ADCY8@p.R150Q 3 0.409090909 ENSG00000155897 chr8:131039885-131039885;C/T missense_variant False HIP1R@p.A632V 3 0.6 ENSG00000130787 chr12:122858181-122858181;C/T missense_variant False SNX22@p.A182G 3 0.136363636 ENSG00000157734 chr15:64154471-64154471;C/G missense_variant False AP002748.5@p.R137Q 3 0.183783784 None chr11:66514545-66514545;G/A missense_variant False FOXQ1@p.S135L 3 0.323529412 ENSG00000164379 chr6:1313108-1313108;C/T missense_variant False ARID1A@p.S1182Rfs*24 3 0.375 ENSG00000117713 chr1:26772818-26772818;C/- frameshift_variant True CYP2C9@p.R186C 3 0.186746988 ENSG00000138109 chr10:94947853-94947853;C/T missense_variant False KCNF1@p.E158K 3 0.268292683 ENSG00000162975 chr2:10912898-10912898;G/A missense_variant False PHLDA3@p.E82K 3 0.182795699 ENSG00000174307 chr1:201468543-201468543;C/T missense_variant False PXDN@p.E352Q 3 0.214285714 ENSG00000130508 chr2:1666451-1666451;C/G missense_variant False RALGPS2@p.E51Q 3 0.17 ENSG00000116191 chr1:178784511-178784511;G/C missense_variant False MACF1@p.R6539T 3 0.196078431 ENSG00000127603 chr1:39447858-39447858;G/C missense_variant False ZBTB32@p.G284E 3 0.155339806 ENSG00000011590 chr19:35715477-35715477;G/A missense_variant False ZNF516@p.G572S 3 0.291666667 ENSG00000101493 chr18:76441341-76441341;C/T missense_variant False ERBB2@p.S310Y 3 0.050473186 ENSG00000141736 chr17:39711955-39711955;C/A missense_variant True DACH1@p.D717V 3 0.556603774 ENSG00000276644 chr13:71475726-71475726;T/A missense_variant False ZNF335@p.H1069D 3 0.108843537 ENSG00000198026 chr20:45950580-45950580;G/C missense_variant False NECTIN4@p.S206L 3 0.108986616 ENSG00000143217 chr1:161077566-161077566;G/A missense_variant False ELP1@p.H275R 3 0.135483871 ENSG00000070061 chr9:108917587-108917587;T/C missense_variant False CD163@p.R1075Q 3 0.157894737 ENSG00000177575 chr12:7482666-7482666;C/T missense_variant False RALGPS1@p.R381Q 3 0.326086957 ENSG00000136828 chr9:127196578-127196578;G/A missense_variant False FIGN@p.D328* 3 0.434343434 ENSG00000182263 chr2:163610850-163610851;-/A frameshift_variant False FBXO8@p.R294C 3 0.280487805 ENSG00000164117 chr4:174237492-174237492;G/A missense_variant False TRIM36@p.E465Q 3 0.185185185 ENSG00000152503 chr5:115134001-115134001;C/G missense_variant False ARHGEF1@p.E820K 3 0.150793651 ENSG00000076928 chr19:41905992-41905992;G/A missense_variant False CDR2@p.E8Q 3 0.395604396 ENSG00000140743 chr16:22374288-22374288;C/G missense_variant False OLFM4@p.L415R 3 0.24137931 ENSG00000102837 chr13:53050482-53050482;T/G missense_variant False SLC23A3@p.P114A 3 0.596685083 ENSG00000213901 chr2:219169387-219169387;G/C missense_variant False H3C7@p.A48T 3 0.136363636 ENSG00000277775 chr6:26250464-26250464;C/T missense_variant False HSPB11@p.T37M 3 0.408163265 None chr1:53930134-53930134;G/A missense_variant False FCGBP@p.V2679A 3 0.107744108 ENSG00000275395 chr19:39886143-39886143;A/G missense_variant False XPO5@p.R175I 3 0.17370892 ENSG00000124571 chr6:43570599-43570599;C/A missense_variant False IMP4@p.D212H 3 0.158333333 ENSG00000136718 chr2:130346057-130346057;G/C missense_variant False ADGRV1@p.S1684R 3 0.16 ENSG00000164199 chr5:90674174-90674174;A/C missense_variant False ERBB3@p.V104L 3 0.392 ENSG00000065361 chr12:56085070-56085070;G/T missense_variant False LDLR@p.P526S 3 0.473684211 ENSG00000130164 chr19:11113752-11113752;C/T missense_variant False GABRG1@p.T52Pfs*17 3 0.195876289 ENSG00000163285 chr4:46097300-46097300;T/- frameshift_variant False SYNE2@p.E2939Q 3 0.240740741 ENSG00000054654 chr14:64052728-64052728;G/C missense_variant False ERBB3@p.M91I 3 0.25 ENSG00000065361 chr12:56085033-56085033;G/A missense_variant False ADK@p.E205K 3 0.297734628 ENSG00000156110 chr10:74525313-74525313;G/A missense_variant False H3C2@p.R132G 3 0.121212121 ENSG00000286522 chr6:26031667-26031667;G/C missense_variant True PHKA1@p.M716I 3 0.666666667 ENSG00000067177 chrX:72619295-72619295;C/T missense_variant False ERBB3@p.E332K 3 0.373239437 ENSG00000065361 chr12:56088753-56088753;G/A missense_variant False SYNE2@p.R2434W 3 0.244897959 ENSG00000054654 chr14:64048078-64048078;C/T missense_variant False RBAK@p.G285A 3 0.191489362 ENSG00000146587 chr7:5064310-5064310;G/C missense_variant False PCDH17@p.E736D 3 0.140625 ENSG00000118946 chr13:57634754-57634754;G/C missense_variant False WDCP@p.S686C 3 0.196428571 ENSG00000163026 chr2:24031042-24031042;G/C missense_variant False IL16@p.S1007C 3 0.171428571 ENSG00000172349 chr15:81300346-81300346;C/G missense_variant False RAB5A@p.Y151S 3 0.37755102 ENSG00000144566 chr3:19978323-19978323;A/C missense_variant False CARM1@p.S592Y 3 0.160714286 ENSG00000142453 chr19:10921705-10921705;C/A missense_variant False AMIGO3@p.L279V 3 0.420289855 ENSG00000176020 chr3:49718631-49718631;G/C missense_variant False RUNX2@p.G368Afs*116 3 0.14953271 ENSG00000124813 chr6:45546840-45546840;G/- frameshift_variant False POLN@p.A609S 3 0.371681416 ENSG00000130997 chr4:2129221-2129221;C/A missense_variant False FAM193A@p.T612M 3 0.157894737 ENSG00000125386 chr4:2690875-2690875;C/T missense_variant False EFHB@p.H554Y 3 0.204081633 ENSG00000163576 chr3:19896752-19896752;G/A missense_variant False NUP214@p.Q714H 3 0.213114754 ENSG00000126883 chr9:131150630-131150630;G/C missense_variant False ZNF613@p.D561Y 3 0.146341463 ENSG00000176024 chr19:51945564-51945564;G/T missense_variant False FAM186B@p.I115T 3 0.164179104 ENSG00000135436 chr12:49603346-49603346;A/G missense_variant False OSCP1@p.Q69E 3 0.386363636 ENSG00000116885 chr1:36438848-36438848;G/C missense_variant False CIAPIN1@p.R144Q 3 0.158878505 ENSG00000005194 chr16:57434169-57434169;C/T missense_variant False USO1@p.L171F 3 0.24137931 ENSG00000138768 chr4:75771095-75771095;G/C missense_variant False MB21D2@p.Q311E 3 0.277777778 ENSG00000180611 chr3:192798931-192798931;G/C missense_variant False NAALADL1@p.R246Q 3 0.375 ENSG00000168060 chr11:65054605-65054605;C/T missense_variant False SCN3A@p.E480Q 3 0.267326733 ENSG00000153253 chr2:165146972-165146972;C/G missense_variant False NVL@p.S211C 3 0.336956522 ENSG00000143748 chr1:224305150-224305150;G/C missense_variant False ZNF668@p.H190Y 3 0.375 ENSG00000167394 chr16:31063892-31063892;G/A missense_variant False FMO2@p.E32Q 3 0.242424242 ENSG00000094963 chr1:171185807-171185807;G/C missense_variant False HERC1@p.E2353Q 3 0.185 ENSG00000103657 chr15:63677858-63677858;C/G missense_variant False CCN1@p.R218C 3 0.203125 ENSG00000142871 chr1:85582433-85582433;C/T missense_variant False TNC@p.G1592D 3 0.224489796 ENSG00000041982 chr9:115048337-115048337;C/T missense_variant False CDH16@p.R717C 3 0.222222222 ENSG00000166589 chr16:66910278-66910278;G/A missense_variant False ACP3@p.E321K 3 0.208955224 ENSG00000014257 chr3:132352816-132352816;G/A missense_variant False NCF2@p.V356E 3 0.08 ENSG00000116701 chr1:183563545-183563545;A/T missense_variant False MS4A8@p.V57M 3 0.168831169 ENSG00000166959 chr11:60701029-60701029;G/A missense_variant False LRFN3@p.T395Mfs*37 3 0.394736842 ENSG00000126243 chr19:35940609-35940615;CCAGCTG/- frameshift_variant False ALDH16A1@p.R334Q 3 0.305555556 ENSG00000161618 chr19:49462658-49462658;G/A missense_variant False RIMKLB@p.E121K 3 0.096385542 ENSG00000166532 chr12:8750047-8750047;G/A missense_variant False ZIM3@p.H217D 3 0.184210526 ENSG00000141946 chr19:57135688-57135688;G/C missense_variant False POP1@p.E793K 3 0.155 ENSG00000104356 chr8:98156369-98156369;G/A missense_variant False PPFIA1@p.E247Q 3 0.431011827 ENSG00000131626 chr11:70326627-70326627;G/C missense_variant False FASTKD3@p.A130T 3 0.157303371 ENSG00000124279 chr5:7867696-7867696;C/T missense_variant False TLCD3A@p.L119V 3 0.235294118 ENSG00000167695 chr17:737994-737994;C/G missense_variant False PIK3CA@p.E545Q 3 0.211111111 ENSG00000121879 chr3:179218303-179218303;G/C missense_variant True MRGPRX2@p.L52F 3 0.18452381 ENSG00000183695 chr11:19056249-19056249;G/A missense_variant False EDC4@p.K287Sfs*7 3 0.340909091 ENSG00000038358 chr16:67877809-67877809;C/- frameshift_variant False NBPF1@p.D520N 3 0.15327381 ENSG00000219481 chr1:16580778-16580778;C/T missense_variant False SPATA31A1@p.D144N 3 0.139393939 ENSG00000204849 chr9:39358195-39358195;G/A missense_variant False ITSN1@p.R1552Q 3 0.110169492 ENSG00000205726 chr21:33883650-33883650;G/A missense_variant False RHOA@p.E47K 3 0.431818182 ENSG00000067560 chr3:49375451-49375451;C/T missense_variant False OR5B21@p.V75I 3 0.102941176 ENSG00000198283 chr11:58507883-58507883;C/T missense_variant False PIP4K2C@p.F185Y 3 0.181818182 ENSG00000166908 chr12:57599105-57599105;T/A missense_variant False FAT1@p.I2276M 3 0.205607477 ENSG00000083857 chr4:186619758-186619758;G/C missense_variant False RERE@p.K176N 3 0.266666667 ENSG00000142599 chr1:8557518-8557518;C/G missense_variant False FAM50B@p.A289T 3 0.280898876 ENSG00000145945 chr6:3850676-3850676;G/A missense_variant False PEAR1@p.G1005Rfs*4 3 0.111111111 ENSG00000187800 chr1:156914690-156914691;-/C frameshift_variant False VDAC2@p.N179T 3 0.139240506 ENSG00000165637 chr10:75220922-75220922;A/C missense_variant False CDH22@p.M191K 3 0.666666667 ENSG00000149654 chr20:46227606-46227606;A/T missense_variant False OR8H1@p.N6K 3 0.179104478 ENSG00000181693 chr11:56291045-56291045;G/T missense_variant False RHOB@p.P75T 3 0.147058824 ENSG00000143878 chr2:20447688-20447688;C/A missense_variant False IDE@p.K273Q 3 0.205128205 ENSG00000119912 chr10:92510130-92510130;T/G missense_variant False NBR1@p.H272D 3 0.549019608 ENSG00000188554 chr17:43190727-43190727;C/G missense_variant False SPATA31A1@p.S1176Ffs*13 3 0.617302053 ENSG00000204849 chr9:39361285-39361286;-/T frameshift_variant False SDCCAG8@p.L271V 3 0.51010101 ENSG00000054282 chr1:243308059-243308059;C/G missense_variant False VCX3B@p.R6K 3 0.234848485 ENSG00000205642 chrX:8465467-8465467;G/A missense_variant False BRCA2@p.T2097M 3 0.193548387 ENSG00000139618 chr13:32340645-32340645;C/T missense_variant True NCAM1@p.A837E 3 0.151515152 ENSG00000149294 chr11:113275320-113275320;C/A missense_variant False TPTE@p.P188S 3 0.083870968 ENSG00000274391 chr21:10567785-10567785;C/T missense_variant False NXPH2@p.T176I 3 0.12 ENSG00000144227 chr2:138671190-138671190;G/A missense_variant False USP34@p.E3449Q 3 0.229508197 ENSG00000115464 chr2:61188398-61188398;C/G missense_variant False NXPH2@p.T176S 3 0.115384615 ENSG00000144227 chr2:138671191-138671191;T/A missense_variant False RELCH@p.S1061C 3 0.471698113 ENSG00000134444 chr18:62282373-62282373;C/G missense_variant False FLRT2@p.S330L 3 0.273037543 ENSG00000185070 chr14:85622503-85622503;C/T missense_variant False CAPN10@p.R566W 3 0.37037037 ENSG00000142330 chr2:240596895-240596895;C/T missense_variant False OR6C70@p.G106R 3 0.14516129 ENSG00000184954 chr12:55469823-55469823;C/T missense_variant False ZNF644@p.Q267E 3 0.137931034 ENSG00000122482 chr1:90940555-90940555;G/C missense_variant False SSB@p.K235T 3 0.235294118 ENSG00000138385 chr2:169810317-169810317;A/C missense_variant False PCDHB6@p.A625S 3 0.183908046 ENSG00000113211 chr5:141152130-141152130;G/T missense_variant False WDR49@p.D353H 3 0.107142857 ENSG00000174776 chr3:167531220-167531220;C/G missense_variant False SLC7A3@p.S94C 3 0.392857143 ENSG00000165349 chrX:70929717-70929717;G/C missense_variant False RCN3@p.L40Pfs*7 3 0.203947368 ENSG00000142552 chr19:49528584-49528585;-/C frameshift_variant False FURIN@p.R693W 3 0.525 ENSG00000140564 chr15:90881570-90881570;C/T missense_variant False TP53@p.Y220C 3 0.647058824 ENSG00000141510 chr17:7674872-7674872;T/C missense_variant True ATP5PO@p.E156V 3 0.162162162 ENSG00000241837 chr21:33903996-33903996;T/A missense_variant False DDX3X@p.D353V 3 0.168674699 ENSG00000215301 chrX:41345215-41345215;A/T missense_variant False SRC@p.S6N 3 0.425925926 ENSG00000197122 chr20:37384170-37384170;G/A missense_variant False SLC38A2@p.K2N 3 0.232 ENSG00000134294 chr12:46371288-46371288;C/G missense_variant False OTUD7A@p.E308K 3 0.444444444 ENSG00000169918 chr15:31503790-31503790;C/T missense_variant False FANCE@p.R106W 3 0.24137931 ENSG00000112039 chr6:35455814-35455814;C/T missense_variant False GPN3@p.R3W 3 0.234567901 ENSG00000111231 chr12:110468197-110468197;G/A missense_variant False CPD@p.C1049S 3 0.147286822 ENSG00000108582 chr17:30451786-30451786;T/A missense_variant False FAT4@p.T2228P 3 0.197278912 ENSG00000196159 chr4:125415645-125415645;A/C missense_variant False CSPG5@p.D119N 3 0.161904762 ENSG00000114646 chr3:47577671-47577671;C/T missense_variant False GAR1@p.R13P 3 0.323943662 ENSG00000109534 chr4:109816202-109816202;G/C missense_variant False PCF11@p.E580K 3 0.171171171 ENSG00000165494 chr11:83166635-83166635;G/A missense_variant False NRBP1@p.N75S 3 0.230769231 ENSG00000115216 chr2:27433686-27433686;A/G missense_variant False HOXB4@p.P244S 3 0.25 ENSG00000182742 chr17:48576748-48576748;G/A missense_variant False MANBAL@p.G25R 2 0.1894736845 ENSG00000101363 chr20:37301336-37301336;G/A missense_variant False XYLT2@p.E740K 2 0.1603535354999999 ENSG00000015532 chr17:50358483-50358483;G/A missense_variant False ATP13A3@p.E608Q 2 0.2707142855 ENSG00000133657 chr3:194438861-194438861;C/G missense_variant False CEACAM8@p.R333T 2 0.2109079445 ENSG00000124469 chr19:42583298-42583298;C/G missense_variant False ZNF514@p.S245L 2 0.2225235695 ENSG00000144026 chr2:95149751-95149751;G/A missense_variant False OPCML@p.T58N 2 0.18438914 ENSG00000183715 chr11:132657314-132657314;G/T missense_variant False NLRP9@p.K303N 2 0.7630147629999999 ENSG00000185792 chr19:55732922-55732922;C/G missense_variant False ERBB2@p.V842I 2 0.4842105264999999 ENSG00000141736 chr17:39725079-39725079;G/A missense_variant True KRT15@p.R214Q 2 0.221818182 ENSG00000171346 chr17:41516905-41516905;C/T missense_variant False C8G@p.R120Q 2 0.3333333335 ENSG00000176919 chr9:136946097-136946097;G/A missense_variant False DOP1B@p.E1196K 2 0.2457253174999999 ENSG00000142197 chr21:36245566-36245566;G/A missense_variant False PLCG1@p.E809K 2 0.5509615385 ENSG00000124181 chr20:41168812-41168812;G/A missense_variant False H2AC13@p.R33C 2 0.214053086 ENSG00000196747 chr6:27808306-27808306;C/T missense_variant False CNNM4@p.D157N 2 0.5396358995 ENSG00000158158 chr2:96761468-96761468;G/A missense_variant False H2AC14@p.R30Q 2 0.252380952 ENSG00000276368 chr6:27814652-27814652;C/T missense_variant False ARHGAP21@p.E884K 2 0.1768292684999999 ENSG00000107863 chr10:24607533-24607533;C/T missense_variant False RPL17-C18orf32@p.E115Q 2 0.2311827955 chr18:49489523-49489523;C/G missense_variant False MAP3K13@p.G107R 2 0.2770232815 ENSG00000073803 chr3:185428900-185428900;G/A missense_variant False H3C11@p.E98K 2 0.401298438 ENSG00000275379 chr6:27872024-27872024;C/T missense_variant False MCF2L2@p.E969Q 2 0.1130411255 ENSG00000053524 chr3:183195235-183195235;C/G missense_variant False LARGE1@p.M310I 2 0.371115819 ENSG00000133424 chr22:33384267-33384267;C/A missense_variant False UGT2B17@p.L170V 2 0.311787614 ENSG00000197888 chr4:68567977-68567977;G/C missense_variant False H3C2@p.R135T 2 0.4219298245 ENSG00000286522 chr6:26031657-26031657;C/G missense_variant True MAP3K21@p.R345W 2 0.2373615795 ENSG00000143674 chr1:233353853-233353853;C/T missense_variant False CACNA1A@p.D1945H 2 0.3861283645 ENSG00000141837 chr19:13214525-13214525;C/G missense_variant False ZNF624@p.R492K 2 0.4470909885 ENSG00000197566 chr17:16623411-16623411;C/T missense_variant False SFRP4@p.V100L 2 0.19484127 ENSG00000106483 chr7:37916240-37916240;C/A missense_variant False H3C6@p.E98K 2 0.3692810454999999 ENSG00000274750 chr6:26225446-26225446;G/A missense_variant False MBP@p.E253K 2 0.3709359605 ENSG00000197971 chr18:76984888-76984888;C/T missense_variant False SPATS2@p.E152K 2 0.2287866774999999 ENSG00000123352 chr12:49494930-49494930;G/A missense_variant False CXXC1@p.E423K 2 0.2178030305 ENSG00000154832 chr18:50284040-50284040;C/T missense_variant False TRIP10@p.K326N 2 0.1550171525 ENSG00000125733 chr19:6744988-6744988;G/T missense_variant False AZIN2@p.S283L 2 0.3242105265 ENSG00000142920 chr1:33096801-33096801;C/T missense_variant False ERBB3@p.D297Y 2 0.296853589 ENSG00000065361 chr12:56088557-56088557;G/T missense_variant False ERBB3@p.E925Q 2 0.3355925415 ENSG00000065361 chr12:56098839-56098839;G/C missense_variant False C8orf34@p.S441L 2 0.247497219 chr8:68709074-68709074;C/T missense_variant False MROH8@p.G666D 2 0.233762883 ENSG00000101353 chr20:37102703-37102703;C/T missense_variant False MUC16@p.E14354Q 2 0.2351586935 ENSG00000181143 chr19:8858608-8858608;C/G missense_variant False ZNF624@p.R296T 2 0.541451455 ENSG00000197566 chr17:16623999-16623999;C/G missense_variant False HYI@p.E149D 2 0.183014354 ENSG00000178922 chr1:43452259-43452259;C/G missense_variant False LAMA4@p.E639K 2 0.1602618244999999 ENSG00000112769 chr6:112155609-112155609;C/T missense_variant False CARD6@p.S28F 2 0.34057971 ENSG00000132357 chr5:40841465-40841465;C/T missense_variant False PCDH10@p.F380Lfs*3 2 0.278229566 ENSG00000138650 chr4:133151280-133151280;C/- frameshift_variant False AP3D1@p.S983F 2 0.5515297905000001 ENSG00000065000 chr19:2110748-2110748;G/A missense_variant False ULBP1@p.Q53E 2 0.6087743645 ENSG00000111981 chr6:149968678-149968678;C/G missense_variant False MUC17@p.E2944Q 2 0.179009038 ENSG00000169876 chr7:101040246-101040246;G/C missense_variant False GIMAP5@p.S107C 2 0.100925926 ENSG00000196329 chr7:150742459-150742459;C/G missense_variant False NLRP4@p.E973Q 2 0.4766483515 ENSG00000160505 chr19:55881519-55881519;G/C missense_variant False H2BC4@p.E77K 2 0.3211949684999999 ENSG00000278588 chr6:26123676-26123676;C/T missense_variant False GBE1@p.M587I 2 0.119320013 ENSG00000114480 chr3:81536953-81536953;C/T missense_variant False ERBB2@p.V777L 2 0.5706766915 ENSG00000141736 chr17:39724747-39724747;G/T missense_variant True PCDHGA8@p.G188A 2 0.308551278 ENSG00000253767 chr5:141393376-141393376;G/C missense_variant False H2BC21@p.P9A 2 0.4960755815 ENSG00000184678 chr1:149886616-149886616;G/C missense_variant False SNX29@p.S460L 2 0.467948718 ENSG00000048471 chr16:12078892-12078892;C/T missense_variant False CNOT3@p.E20K 2 0.1149329635 ENSG00000088038 chr19:54143151-54143151;G/A missense_variant False LAMC1@p.E988K 2 0.2180080174999999 ENSG00000135862 chr1:183127243-183127243;G/A missense_variant False SIRT7@p.E203K 2 0.2638513515 ENSG00000187531 chr17:81914503-81914503;C/T missense_variant False NUTM2G@p.E277K 2 0.263322884 ENSG00000188152 chr9:96935443-96935443;G/A missense_variant False H2BC10@p.E77K 2 0.168951613 ENSG00000278588 chr6:26273204-26273204;G/A missense_variant False TFPT@p.S19L 2 0.250755477 ENSG00000105619 chr19:54114668-54114668;G/A missense_variant False NLRP7@p.R446C 2 0.2486002239999999 ENSG00000167634 chr19:54939483-54939483;G/A missense_variant False NFE2L2@p.D29H 2 0.4261904765 ENSG00000116044 chr2:177234232-177234232;C/G missense_variant True WDR64@p.D918Y 2 0.261177645 ENSG00000162843 chr1:241787925-241787925;G/T missense_variant False DNAH5@p.I1899M 2 0.111923077 ENSG00000039139 chr5:13840918-13840918;G/C missense_variant False CELSR1@p.E1382K 2 0.263768116 ENSG00000075275 chr22:46463746-46463746;C/T missense_variant False CTAG2@p.P183L 2 0.6299238125 ENSG00000126890 chrX:154652353-154652353;G/A missense_variant False SIRPG@p.S6F 2 0.4185277085 ENSG00000089012 chr20:1657698-1657698;G/A missense_variant False C9orf64@p.R92T 2 0.5276917784999999 chr9:83956226-83956226;C/G missense_variant False FMO3@p.G355A 2 0.071524966 ENSG00000007933 chr1:171114243-171114243;G/C missense_variant False ERCC2@p.E606Q 2 0.4122073579999999 ENSG00000104884 chr19:45353098-45353098;C/G missense_variant False RAB11FIP4@p.S596L 2 0.2944488605 ENSG00000131242 chr17:31530459-31530459;C/T missense_variant False CELF3@p.D414N 2 0.4368450084999999 ENSG00000159409 chr1:151705852-151705852;C/T missense_variant False COL1A2@p.R1123C 2 0.262195122 ENSG00000164692 chr7:94427726-94427726;C/T missense_variant False ZNF500@p.K354R 2 0.4483333335 ENSG00000103199 chr16:4752758-4752758;T/C missense_variant False KHDRBS2@p.H150Y 2 0.2293844364999999 ENSG00000112232 chr6:61978101-61978101;G/A missense_variant False MUC16@p.L10937V 2 0.220768676 ENSG00000181143 chr19:8938146-8938146;G/C missense_variant False RXRA@p.S427Y 2 0.6282176075 ENSG00000186350 chr9:134436505-134436505;C/A missense_variant False RAB11FIP1@p.S597C 2 0.169670543 ENSG00000156675 chr8:37873012-37873012;G/C missense_variant False FGFRL1@p.E289K 2 0.1626771655 ENSG00000127418 chr4:1024457-1024457;G/A missense_variant False TFE3@p.P218L 2 0.230263158 ENSG00000068323 chrX:49038324-49038324;G/A missense_variant False LAMB2@p.E127Q 2 0.519047619 ENSG00000172037 chr3:49132276-49132276;C/G missense_variant False AUTS2@p.S1169C 2 0.2179487179999999 ENSG00000158321 chr7:70790722-70790722;C/G missense_variant False AUTS2@p.S201I 2 0.100931677 ENSG00000158321 chr7:70118211-70118211;G/T missense_variant False LAMB2@p.R1365W 2 0.2089694655 ENSG00000172037 chr3:49123263-49123263;G/A missense_variant False IKZF2@p.N154S 2 0.406084656 ENSG00000030419 chr2:213049826-213049826;T/C missense_variant False LAMB3@p.S266F 2 0.2445783135 ENSG00000196878 chr1:209632608-209632608;G/A missense_variant False SIPA1L3@p.E311K 2 0.185 ENSG00000105738 chr19:38082496-38082496;G/A missense_variant False FMO4@p.D99H 2 0.37982018 ENSG00000076258 chr1:171323166-171323166;G/C missense_variant False GHSR@p.F12L 2 0.2416666665 ENSG00000121853 chr3:172448378-172448378;G/C missense_variant False NUTF2@p.D23H 2 0.336167997 ENSG00000102898 chr16:67865197-67865197;G/C missense_variant False PCARE@p.E1161K 2 0.383275928 ENSG00000179270 chr2:29070781-29070781;C/T missense_variant False FGFR2@p.E777K 2 0.10405447 ENSG00000066468 chr10:121479994-121479994;C/T missense_variant True AP1B1@p.Q348E 2 0.2035809015 ENSG00000100280 chr22:29351722-29351722;G/C missense_variant False MRPL58@p.D149N 2 0.3532608695 ENSG00000167862 chr17:75020566-75020566;G/A missense_variant False RANBP6@p.E18Q 2 0.069438572 ENSG00000137040 chr9:6015556-6015556;C/G missense_variant False WNK1@p.R341G 2 0.2584450335 ENSG00000060237 chr12:827130-827130;C/G missense_variant False TJP3@p.D424N 2 0.4147727275 ENSG00000105289 chr19:3736307-3736307;G/A missense_variant False ZNF624@p.G534R 2 0.4520404605 ENSG00000197566 chr17:16623286-16623286;C/T missense_variant False NLRC4@p.E409Q 2 0.2540229885 ENSG00000091106 chr2:32250639-32250639;C/G missense_variant False HCAR2@p.F25L 2 0.212561881 ENSG00000182782 chr12:122703209-122703209;G/C missense_variant False RABEP2@p.V352L 2 0.1870725035 ENSG00000177548 chr16:28910923-28910923;C/G missense_variant False CDH7@p.D703H 2 0.2572696505 ENSG00000081138 chr18:65880643-65880643;G/C missense_variant False PCDHB6@p.S326L 2 0.341151386 ENSG00000113211 chr5:141151234-141151234;C/T missense_variant False KDM1B@p.K9N 2 0.154347826 ENSG00000165097 chr6:18159922-18159922;G/C missense_variant False WIF1@p.E311K 2 0.1523672195 ENSG00000156076 chr12:65055205-65055205;C/T missense_variant False DNASE2@p.R77Q 2 0.4103936465 ENSG00000105612 chr19:12881009-12881009;C/T missense_variant False RAD51C@p.D167N 2 0.398026316 ENSG00000108384 chr17:58696787-58696787;G/A missense_variant False GCC2@p.Q887E 2 0.571428571 ENSG00000135968 chr2:108471988-108471988;C/G missense_variant False DNAJC6@p.S787C 2 0.1681864235 ENSG00000116675 chr1:65408680-65408680;C/G missense_variant False ADAM30@p.H578D 2 0.450320513 ENSG00000134249 chr1:119894605-119894605;G/C missense_variant False RAD51C@p.Y224H 2 0.3015180875 ENSG00000108384 chr17:58703294-58703294;T/C missense_variant False THRAP3@p.T757Nfs*6 2 0.2300167225 ENSG00000054118 chr1:36296730-36296731;-/A frameshift_variant False PCDHB8@p.E232K 2 0.4052411314999999 ENSG00000120322 chr5:141178728-141178728;G/A missense_variant False ATP8B1@p.D502N 2 0.4479166665 ENSG00000081923 chr18:57684162-57684162;C/T missense_variant False ADAM22@p.R513C 2 0.1471291865 ENSG00000008277 chr7:88149028-88149028;C/T missense_variant False PCDHB8@p.E783Q 2 0.3377313435 ENSG00000120322 chr5:141180381-141180381;G/C missense_variant False HAUS5@p.E255K 2 0.2065758165 ENSG00000249115 chr19:35618137-35618137;G/A missense_variant False IGHE@p.Q348H 2 0.3324175825 ENSG00000211891 chr14:105600309-105600309;C/G missense_variant False PRKDC@p.Q1043E 2 0.1408026755 ENSG00000253729 chr8:47902711-47902711;G/C missense_variant False GIPC3@p.Q312H 2 0.1805555555 ENSG00000179855 chr19:3590174-3590174;G/C missense_variant False MTIF2@p.E312K 2 0.2638888885 ENSG00000085760 chr2:55249442-55249442;C/T missense_variant False SULT1C2@p.E63Q 2 0.574384904 ENSG00000198203 chr2:108294264-108294264;G/C missense_variant False CDK9@p.R86Q 2 0.324896931 ENSG00000136807 chr9:127787600-127787600;G/A missense_variant False MAPK8IP1@p.E279K 2 0.3623931625 ENSG00000121653 chr11:45902602-45902602;G/A missense_variant False CACNB1@p.F128L 2 0.287110844 ENSG00000067191 chr17:39187509-39187509;G/C missense_variant False KDM6A@p.P1107Lfs*13 2 0.7648648650000001 ENSG00000147050 chrX:45083494-45083494;C/- frameshift_variant True ATP9A@p.R519Q 2 0.2917992225 ENSG00000054793 chr20:51639455-51639455;C/T missense_variant False XAB2@p.E782K 2 0.2029454024999999 ENSG00000076924 chr19:7619998-7619998;C/T missense_variant False OGDH@p.K697N 2 0.2898499555 ENSG00000105953 chr7:44697409-44697409;G/C missense_variant False PCDHAC1@p.V13I 2 0.1543547655 ENSG00000248383 chr5:140926929-140926929;G/A missense_variant False KDM2B@p.E925K 2 0.45 ENSG00000089094 chr12:121442668-121442668;C/T missense_variant False ZNF624@p.G253Rfs*19 2 0.3736352355 ENSG00000197566 chr17:16624129-16624130;-/T frameshift_variant False CDK12@p.L495F 2 0.091721286 ENSG00000167258 chr17:39471317-39471317;G/C missense_variant False CDHR5@p.E818K 2 0.261904762 ENSG00000099834 chr11:617419-617419;C/T missense_variant False SP8@p.S37L 2 0.3354545455 ENSG00000164651 chr7:20785653-20785653;G/A missense_variant False TICRR@p.E175K 2 0.2571756605 ENSG00000140534 chr15:89576109-89576109;G/A missense_variant False NKTR@p.S967L 2 0.132330047 ENSG00000114857 chr3:42638604-42638604;C/T missense_variant False DNTT@p.C110R 2 0.1690476189999999 ENSG00000107447 chr10:96318476-96318476;T/C missense_variant False RTL10@p.I15M 2 0.3276520715 ENSG00000215012 chr22:19852217-19852217;G/C missense_variant False USF3@p.E264K 2 0.235268505 ENSG00000176542 chr3:113660892-113660892;C/T missense_variant False CALCB@p.M60I 2 0.3157407405 ENSG00000175868 chr11:15075154-15075154;G/A missense_variant False KRT84@p.E336K 2 0.365436088 ENSG00000161849 chr12:52381432-52381432;C/T missense_variant False TIAM1@p.S1131L 2 0.2288401255 ENSG00000156299 chr21:31146978-31146978;G/A missense_variant False PKD1L2@p.M258K 2 0.441713672 ENSG00000166473 chr16:81207623-81207623;A/T missense_variant False RAD21@p.E532Kfs*80 2 0.227899576 ENSG00000164754 chr8:116850644-116850644;C/- frameshift_variant False MT1H@p.E8K 2 0.2379600805 ENSG00000205358 chr16:56669906-56669906;G/A missense_variant False PKHD1L1@p.D1971E 2 0.1862068965 ENSG00000205038 chr8:109448279-109448279;T/A missense_variant False DOCK1@p.Q205E 2 0.477729885 ENSG00000150760 chr10:126998095-126998095;C/G missense_variant False ZNF569@p.Q365K 2 0.0869708995 ENSG00000196437 chr19:37413565-37413565;G/T missense_variant False COG4@p.E233K 2 0.3965336135 ENSG00000103051 chr16:70512280-70512280;C/T missense_variant False SPAG17@p.M652I 2 0.1481981985 ENSG00000155761 chr1:118081449-118081449;C/T missense_variant False USF3@p.S308L 2 0.395491143 ENSG00000176542 chr3:113660759-113660759;G/A missense_variant False SHANK1@p.E146Q 2 0.268811189 ENSG00000161681 chr19:50716298-50716298;C/G missense_variant False PKD1L1@p.L1599V 2 0.4117260335 ENSG00000158683 chr7:47854946-47854946;G/C missense_variant False PRMT7@p.S516L 2 0.4952237305 ENSG00000132600 chr16:68352381-68352381;C/T missense_variant False PCDHB11@p.Q747H 2 0.3193452384999999 ENSG00000197479 chr5:141202015-141202015;G/C missense_variant False PKHD1L1@p.V1993A 2 0.3291666665 ENSG00000205038 chr8:109448344-109448344;T/C missense_variant False ADAM19@p.S179C 2 0.215815922 ENSG00000135074 chr5:157519903-157519903;G/C missense_variant False GDF11@p.P276L 2 0.207142857 ENSG00000135414 chr12:55748967-55748967;C/T missense_variant False HCFC1R1@p.E61Q 2 0.2057321985 ENSG00000103145 chr16:3023333-3023333;C/G missense_variant False SUCO@p.Q663L 2 0.1220238095 ENSG00000094975 chr1:172589089-172589089;A/T missense_variant False DNM1L@p.E116Kfs*6 2 0.372829418 ENSG00000087470 chr12:32708200-32708201;AG/- frameshift_variant False KDM3A@p.D24N 2 0.417634409 ENSG00000115548 chr2:86442117-86442117;G/A missense_variant False SOSTDC1@p.R79C 2 0.4691358025 ENSG00000171243 chr7:16462934-16462934;G/A missense_variant False CDKN1A@p.D62* 2 0.4416666664999999 ENSG00000124762 chr6:36684280-36684281;-/G frameshift_variant False EP400@p.P1335L 2 0.4155172415 ENSG00000183495 chr12:132017615-132017615;C/T missense_variant False NLRP2@p.D1021H 2 0.2980263159999999 ENSG00000022556 chr19:55000770-55000770;G/C missense_variant False ZNF536@p.D164Y 2 0.280408774 ENSG00000198597 chr19:30444052-30444052;G/T missense_variant False ADAMTS20@p.S124L 2 0.6215277779999999 ENSG00000173157 chr12:43550991-43550991;G/A missense_variant False PITPNM1@p.R169Q 2 0.368068068 ENSG00000110697 chr11:67501996-67501996;C/T missense_variant False ADAMTS20@p.S193F 2 0.3646277854999999 ENSG00000173157 chr12:43532071-43532071;G/A missense_variant False KRT36@p.S57C 2 0.433171282 ENSG00000126337 chr17:41489695-41489695;G/C missense_variant False KCNU1@p.G85E 2 0.3369565215 ENSG00000215262 chr8:36787364-36787364;G/A missense_variant False EPS15L1@p.S362L 2 0.0932539679999999 ENSG00000127527 chr19:16417970-16417970;G/A missense_variant False GBP4@p.R236I 2 0.2169148055 ENSG00000162654 chr1:89191470-89191470;C/A missense_variant False THAP12@p.D449H 2 0.4487615345 ENSG00000137492 chr11:76351805-76351805;C/G missense_variant False MBD6@p.L722V 2 0.272007187 ENSG00000166987 chr12:57527588-57527588;C/G missense_variant False DOK5@p.R265C 2 0.1380257675 ENSG00000101134 chr20:54643515-54643515;C/T missense_variant False KRT33B@p.E302K 2 0.172413793 ENSG00000131738 chr17:41364972-41364972;C/T missense_variant False MTRF1@p.E431Q 2 0.2625468165 ENSG00000120662 chr13:41217162-41217162;C/G missense_variant False STXBP1@p.L76V 2 0.2781823519999999 ENSG00000136854 chr9:127658431-127658431;C/G missense_variant False TRA2B@p.S284L 2 0.141919192 ENSG00000136527 chr3:185918370-185918370;G/A missense_variant False PCDHB9@p.E137Q 2 0.303321678 ENSG00000177839 chr5:141187727-141187727;G/C missense_variant False PRKCB@p.S661C 2 0.233082707 ENSG00000166501 chr16:24220079-24220079;C/G missense_variant False MTTP@p.Q580E 2 0.307735788 ENSG00000138823 chr4:99608946-99608946;C/G missense_variant False UNC119B@p.L149V 2 0.3700420165 ENSG00000175970 chr12:120716714-120716714;C/G missense_variant False DNAH9@p.M157I 2 0.272015334 ENSG00000007174 chr17:11608182-11608182;G/A missense_variant False SURF2@p.R145C 2 0.653030303 ENSG00000148291 chr9:133360045-133360045;C/T missense_variant False IGLV2-8@p.S40C 2 0.2185472185 ENSG00000278196 chr22:22823054-22823054;C/G missense_variant False ADAMTS9@p.R1491K 2 0.3380952379999999 ENSG00000163638 chr3:64568420-64568420;C/T missense_variant False ZNF624@p.D145N 2 0.4461711714999999 ENSG00000197566 chr17:16624453-16624453;C/T missense_variant False ERBB2@p.I767M 2 0.3357256779999999 ENSG00000141736 chr17:39724004-39724004;C/G missense_variant True ERBB2@p.R103Q 2 0.3326086955 ENSG00000141736 chr17:39708403-39708403;G/A missense_variant True ERBB2@p.R678Q 2 0.7049906515 ENSG00000141736 chr17:39723405-39723405;G/A missense_variant True UMODL1@p.D899N 2 0.2211839165 ENSG00000177398 chr21:42121092-42121092;G/A missense_variant False STON1@p.S110L 2 0.2909568685 ENSG00000243244 chr2:48580962-48580962;C/T missense_variant False DNAH9@p.D1901Y 2 0.1208344094999999 ENSG00000007174 chr17:11719482-11719482;G/T missense_variant False KDM6B@p.S215L 2 0.1741760534999999 ENSG00000132510 chr17:7846673-7846673;C/T missense_variant False HADHB@p.D185H 2 0.1199712645 ENSG00000138029 chr2:26278724-26278724;G/C missense_variant False IGKV1-9@p.A7T 2 0.268648266 ENSG00000241755 chr2:89010439-89010439;C/T missense_variant False CDKN2A@p.H83Y 2 0.462121212 ENSG00000147889 chr9:21971112-21971112;G/A missense_variant True CTNNB1@p.S37C 2 0.4046167244999999 ENSG00000168036 chr3:41224622-41224622;C/G missense_variant True CTNNB1@p.S33F 2 0.2854166664999999 ENSG00000168036 chr3:41224610-41224610;C/T missense_variant True EP300@p.Y1414C 2 0.2892592595 ENSG00000100393 chr22:41169571-41169571;A/G missense_variant True CDKN1A@p.E108Gfs*21 2 0.3004347825 ENSG00000124762 chr6:36684421-36684422;-/G frameshift_variant False APOB@p.D3231G 2 0.2169565215 ENSG00000084674 chr2:21007176-21007176;T/C missense_variant False PIWIL1@p.D702N 2 0.2339124839999999 ENSG00000125207 chr12:130363053-130363053;G/A missense_variant False COL14A1@p.S336C 2 0.3718146715 ENSG00000187955 chr8:120203838-120203838;C/G missense_variant False PITX2@p.E117K 2 0.25 ENSG00000164093 chr4:110621205-110621205;C/T missense_variant False CDKN1A@p.F22Lfs*9 2 0.3763616555 ENSG00000124762 chr6:36684167-36684167;C/- frameshift_variant False HARBI1@p.E125K 2 0.2879395725 ENSG00000180423 chr11:46615865-46615865;C/T missense_variant False HARBI1@p.A55V 2 0.2737068965 ENSG00000180423 chr11:46616074-46616074;G/A missense_variant False IGHV3-30@p.R106Kfs*3 2 0.1256323005 ENSG00000270550 chr14:106335116-106335117;-/T frameshift_variant False GEMIN8@p.E121D 2 0.561051374 ENSG00000046647 chrX:14020187-14020187;C/G missense_variant False PCDHA1@p.E729K 2 0.224651163 ENSG00000204970 chr5:140788475-140788475;G/A missense_variant False ZNF611@p.S189L 2 0.2100840335 ENSG00000213020 chr19:52706489-52706489;G/A missense_variant False PRKD2@p.D782G 2 0.6540880505 ENSG00000105287 chr19:46675112-46675112;T/C missense_variant False RUNX1T1@p.E238K 2 0.3189131755 ENSG00000079102 chr8:92005144-92005144;C/T missense_variant False XIAP@p.D296N 2 0.2965 ENSG00000101966 chrX:123888627-123888627;G/A missense_variant False SPAST@p.S261L 2 0.325091575 ENSG00000021574 chr2:32114737-32114737;C/T missense_variant False XIRP1@p.E772K 2 0.3866707615 ENSG00000168334 chr3:39187132-39187132;C/T missense_variant False FJX1@p.E191K 2 0.3076923079999999 ENSG00000179431 chr11:35619207-35619207;G/A missense_variant False IGIP@p.M7I 2 0.4345776775 ENSG00000182700 chr5:140128497-140128497;G/A missense_variant False XIRP1@p.S498C 2 0.163110916 ENSG00000168334 chr3:39187953-39187953;G/C missense_variant False DOCK9@p.A1053T 2 0.1942959 ENSG00000088387 chr13:98867945-98867945;C/T missense_variant False ZNF540@p.Q234H 2 0.2285095855 ENSG00000171817 chr19:37611982-37611982;G/C missense_variant False CDKN2A@p.D108Y 2 0.841463415 ENSG00000147889 chr9:21971037-21971037;C/A missense_variant True ZNF536@p.S1289F 2 0.282051282 ENSG00000198597 chr19:30549485-30549485;C/T missense_variant False OIP5@p.S48L 2 0.2767647059999999 ENSG00000104147 chr15:41332419-41332419;G/A missense_variant False MAP6@p.L779V 2 0.2396276595 ENSG00000171533 chr11:75587166-75587166;G/C missense_variant False EPHB3@p.R967L 2 0.4694244605 ENSG00000182580 chr3:184581525-184581525;G/T missense_variant False OMG@p.S51F 2 0.1148196025 ENSG00000126861 chr17:31296180-31296180;G/A missense_variant False H1-4@p.K109N 2 0.2592656145 ENSG00000168298 chr6:26156717-26156717;G/C missense_variant False PAAF1@p.G114R 2 0.1649560115 ENSG00000175575 chr11:73899203-73899203;G/A missense_variant False TXNIP@p.T327Nfs*14 2 0.169871795 ENSG00000265972 chr1:145994289-145994290;-/T frameshift_variant False GRHPR@p.E190Q 2 0.150323276 ENSG00000137106 chr9:37429806-37429806;G/C missense_variant False RCN2@p.D134H 2 0.1765992005 ENSG00000117906 chr15:76935675-76935675;G/C missense_variant False ZEB1@p.E333Q 2 0.25 ENSG00000148516 chr10:31520332-31520332;G/C missense_variant False SLU7@p.E388K 2 0.455259712 ENSG00000164609 chr5:160406593-160406593;C/T missense_variant False TTC39C@p.E299K 2 0.1901639345 ENSG00000168234 chr18:24082992-24082992;G/A missense_variant False CH25H@p.V56M 2 0.259295499 ENSG00000138135 chr10:89207127-89207127;C/T missense_variant False IQSEC1@p.E863K 2 0.286888112 ENSG00000144711 chr3:12909306-12909306;C/T missense_variant False TYMP@p.G8E 2 0.2424242425 ENSG00000025708 chr22:50529687-50529687;C/T missense_variant False SLC38A10@p.I15M 2 0.126910299 ENSG00000157637 chr17:81294877-81294877;G/C missense_variant False AICDA@p.R171S 2 0.2512437815 ENSG00000111732 chr12:8604839-8604839;G/T missense_variant False DHX32@p.E737K 2 0.2458333335 ENSG00000089876 chr10:125836710-125836710;C/T missense_variant False DHX32@p.P694L 2 0.1527777779999999 ENSG00000089876 chr10:125836838-125836838;G/A missense_variant False GOLGA3@p.E825K 2 0.418731537 ENSG00000090615 chr12:132791290-132791290;C/T missense_variant False TAF11@p.M187I 2 0.176923077 ENSG00000064995 chr6:34878665-34878665;C/A missense_variant False OTX1@p.S204L 2 0.369047619 ENSG00000115507 chr2:63055862-63055862;C/T missense_variant False BTBD7@p.Y324H 2 0.2768199234999999 ENSG00000011114 chr14:93294050-93294050;A/G missense_variant False TADA2B@p.E67K 2 0.377777778 ENSG00000173011 chr4:7043778-7043778;G/A missense_variant False GOLGA3@p.E1260K 2 0.289322618 ENSG00000090615 chr12:132777035-132777035;C/T missense_variant False ZEB2@p.E1094K 2 0.202858109 ENSG00000169554 chr2:144389816-144389816;C/T missense_variant False ZEB2@p.E1094Q 2 0.197013406 ENSG00000169554 chr2:144389816-144389816;C/G missense_variant False ANAPC2@p.S769L 2 0.4095238095 ENSG00000176248 chr9:137175105-137175105;G/A missense_variant False GOLGB1@p.E796K 2 0.343959344 ENSG00000173230 chr3:121698122-121698122;C/T missense_variant False JAK3@p.G182E 2 0.3912543155 ENSG00000105639 chr19:17843048-17843048;C/T missense_variant True POLE@p.G1628A 2 0.451138006 ENSG00000177084 chr12:132642575-132642575;C/G missense_variant False LRRC6@p.S330C 2 0.469587835 None chr8:132611349-132611349;G/C missense_variant False LRRC73@p.R26S 2 0.14416476 ENSG00000204052 chr6:43509710-43509710;G/T missense_variant False IRF2BPL@p.S455L 2 0.533469945 ENSG00000119669 chr14:77026429-77026429;G/A missense_variant False POLE@p.E1715K 2 0.4641299355 ENSG00000177084 chr12:132642207-132642207;C/T missense_variant False ZNF160@p.D148N 2 0.1726190475 ENSG00000170949 chr19:53070092-53070092;C/T missense_variant False IRF2BP1@p.E390K 2 0.1836734695 ENSG00000170604 chr19:45884607-45884607;C/T missense_variant False NCKAP1@p.L904F 2 0.3235472155 ENSG00000061676 chr2:182935359-182935359;C/G missense_variant False LMNTD2@p.R147C 2 0.4642857145 ENSG00000185522 chr11:558000-558000;G/A missense_variant False OTOF@p.E408K 2 0.1642857145 ENSG00000115155 chr2:26483632-26483632;C/T missense_variant False TBX5@p.V186M 2 0.357678496 ENSG00000089225 chr12:114394848-114394848;C/T missense_variant False JARID2@p.S203L 2 0.2583333335 ENSG00000008083 chr6:15468656-15468656;C/T missense_variant False TAF1L@p.R1027C 2 0.2089128125 ENSG00000122728 chr9:32632501-32632501;G/A missense_variant False BICRA@p.S892C 2 0.4177018635 ENSG00000063169 chr19:47694506-47694506;C/G missense_variant False GOLGB1@p.D2782Efs*12 2 0.2540816325 ENSG00000173230 chr3:121691003-121691004;-/TC frameshift_variant False TXNIP@p.E316Q 2 0.161231884 ENSG00000265972 chr1:145994323-145994323;C/G missense_variant False RCSD1@p.E280K 2 0.1450630255 ENSG00000198771 chr1:167697462-167697462;G/A missense_variant False LRRK2@p.D770N 2 0.193631877 ENSG00000188906 chr12:40283941-40283941;G/A missense_variant False AHNAK@p.S4150F 2 0.284677876 ENSG00000124942 chr11:62521968-62521968;G/A missense_variant False GOLGA2@p.E412K 2 0.182142857 ENSG00000167110 chr9:128261241-128261241;C/T missense_variant False DIAPH2@p.P613S 2 0.5860465115 ENSG00000147202 chrX:96958050-96958050;C/T missense_variant False DHX9@p.Q280E 2 0.18902439 ENSG00000135829 chr1:182858578-182858578;C/G missense_variant False TAB3@p.R211T 2 0.4545454545 ENSG00000157625 chrX:30855033-30855033;C/G missense_variant False LRSAM1@p.E294K 2 0.235294118 ENSG00000148356 chr9:127479482-127479482;G/A missense_variant False SLC33A1@p.S502L 2 0.4299299295 ENSG00000169359 chr3:155828355-155828355;G/A missense_variant False CLDN4@p.S163L 2 0.2566666665 ENSG00000189143 chr7:73831689-73831689;C/T missense_variant False TTC13@p.E220Q 2 0.189119009 ENSG00000143643 chr1:230943820-230943820;C/G missense_variant False TTBK2@p.S852L 2 0.4539455405 ENSG00000128881 chr15:42752691-42752691;G/A missense_variant False UBA52@p.E24Q 2 0.2028846154999999 ENSG00000221983 chr19:18573370-18573370;G/C missense_variant False DIAPH2@p.S280F 2 0.4182194615 ENSG00000147202 chrX:96916544-96916544;C/T missense_variant False IPPK@p.S313L 2 0.1408765655 ENSG00000127080 chr9:92635287-92635287;G/A missense_variant False P4HA1@p.D126H 2 0.3734281025 ENSG00000122884 chr10:73068933-73068933;C/G missense_variant False TAAR8@p.M212I 2 0.3375 ENSG00000146385 chr6:132553328-132553328;G/C missense_variant False TTBK1@p.R698W 2 0.287188864 ENSG00000146216 chr6:43282832-43282832;C/T missense_variant False PNLIPRP3@p.V410A 2 0.4365699405 ENSG00000203837 chr10:116476708-116476708;T/C missense_variant False ZCCHC14@p.S366L 2 0.3693681319999999 ENSG00000140948 chr16:87414509-87414509;G/A missense_variant False RMDN1@p.R6G 2 0.28125 ENSG00000176623 chr8:86508605-86508605;G/C missense_variant False PNLIPRP3@p.N439H 2 0.3936758895 ENSG00000203837 chr10:116476794-116476794;A/C missense_variant False BUD13@p.S236L 2 0.4645254805 ENSG00000137656 chr11:116762882-116762882;G/A missense_variant False TCHH@p.R1325T 2 0.0845859875 ENSG00000159450 chr1:152109243-152109243;C/G missense_variant False OR4K2@p.K80N 2 0.166534359 ENSG00000165762 chr14:19876507-19876507;G/C missense_variant False MYO5A@p.E1361K 2 0.183490928 ENSG00000197535 chr15:52340354-52340354;C/T missense_variant False ANK1@p.V1849L 2 0.108891355 ENSG00000029534 chr8:41661875-41661875;C/G missense_variant False AHNAK@p.L2193F 2 0.2225288269999999 ENSG00000124942 chr11:62527838-62527838;C/G missense_variant False CFL2@p.E65Q 2 0.295848022 ENSG00000165410 chr14:34713372-34713372;C/G missense_variant False RBSN@p.T378S 2 0.176107595 ENSG00000289750 chr3:15075679-15075679;G/C missense_variant False DHX37@p.V265M 2 0.35909744 ENSG00000150990 chr12:124977436-124977436;C/T missense_variant False BTK@p.E605K 2 0.4161089055 ENSG00000010671 chrX:101353289-101353289;C/T missense_variant False GOLGA1@p.E696Q 2 0.2299186995 ENSG00000136935 chr9:124881834-124881834;C/G missense_variant False TCFL5@p.Q391H 2 0.299506645 ENSG00000101190 chr20:62857460-62857460;C/G missense_variant False LRRN1@p.M209I 2 0.24686907 ENSG00000175928 chr3:3845268-3845268;G/A missense_variant False ZNF221@p.Y450C 2 0.1178489705 ENSG00000159905 chr19:43966851-43966851;A/G missense_variant False JUN@p.E112K 2 0.4454040105 ENSG00000177606 chr1:58782737-58782737;C/T missense_variant False RIPOR1@p.D254H 2 0.461880712 ENSG00000039523 chr16:67540651-67540651;G/C missense_variant False AHNAK@p.D2889H 2 0.2253857845 ENSG00000124942 chr11:62525752-62525752;C/G missense_variant False DCC@p.V764I 2 0.1772988505 ENSG00000187323 chr18:53339838-53339838;G/A missense_variant False TCHH@p.E294Q 2 0.2398095459999999 ENSG00000159450 chr1:152112337-152112337;C/G missense_variant False AHNAK2@p.S3857F 2 0.2217538559999999 ENSG00000185567 chr14:104943881-104943881;G/A missense_variant False MYO1F@p.E255K 2 0.339869281 ENSG00000142347 chr19:8551748-8551748;C/T missense_variant False SLC35B2@p.A217V 2 0.1487058825 ENSG00000157593 chr6:44255355-44255355;G/A missense_variant False RIPPLY2@p.D61N 2 0.516902011 ENSG00000203877 chr6:83854103-83854103;G/A missense_variant False CHD3@p.G1060R 2 0.574074074 ENSG00000170004 chr17:7901301-7901301;G/C missense_variant False BRWD1@p.F1438L 2 0.286195286 ENSG00000185658 chr21:39206158-39206158;G/C missense_variant False AKAP13@p.S781L 2 0.287922403 ENSG00000170776 chr15:85580410-85580410;C/T missense_variant False FAM83E@p.E72K 2 0.412280702 ENSG00000105523 chr19:48613159-48613159;C/T missense_variant False FAM83H@p.E252Q 2 0.3304375805 ENSG00000180921 chr8:143728707-143728707;C/G missense_variant False FAM83H@p.E1114K 2 0.3785529715 ENSG00000180921 chr8:143726121-143726121;C/T missense_variant False FAM83G@p.Q88E 2 0.7105263159999999 ENSG00000188522 chr17:19003780-19003780;G/C missense_variant False REV3L@p.E1630Q 2 0.384615385 ENSG00000009413 chr6:111373467-111373467;C/G missense_variant False ZFR2@p.E630K 2 0.5709134615 ENSG00000105278 chr19:3819088-3819088;C/T missense_variant False DDX21@p.L675V 2 0.2801744185 ENSG00000165732 chr10:68978962-68978962;C/G missense_variant False LRFN2@p.E190K 2 0.088908766 ENSG00000156564 chr6:40432546-40432546;C/T missense_variant False LRFN2@p.E142K 2 0.4109608744999999 ENSG00000156564 chr6:40432690-40432690;C/T missense_variant False LRP2@p.E3932K 2 0.3255208335 ENSG00000081479 chr2:169162565-169162565;C/T missense_variant False PPARG@p.S249L 2 0.3908424905 ENSG00000132170 chr3:12406008-12406008;C/T missense_variant False TBC1D16@p.D491N 2 0.3627487445 ENSG00000167291 chr17:79948942-79948942;C/T missense_variant False BRCA1@p.L30F 2 0.390027959 ENSG00000012048 chr17:43115770-43115770;C/A missense_variant True ALPK1@p.Q513E 2 0.334651601 ENSG00000073331 chr4:112431084-112431084;C/G missense_variant False ZFP69B@p.S516L 2 0.4131761005 ENSG00000187801 chr1:40463531-40463531;C/T missense_variant False ZFP69B@p.Q219E 2 0.3035292855 ENSG00000187801 chr1:40462639-40462639;C/G missense_variant False FASTKD3@p.Q625E 2 0.3578685065 ENSG00000124279 chr5:7861160-7861160;G/C missense_variant False ALPK3@p.E127K 2 0.3977272725 ENSG00000136383 chr15:84839054-84839054;G/A missense_variant False ITPR2@p.E1902K 2 0.373680824 ENSG00000123104 chr12:26486211-26486211;C/T missense_variant False LRFN5@p.E712K 2 0.496732026 ENSG00000165379 chr14:41898952-41898952;G/A missense_variant False SLC6A2@p.D50N 2 0.309090909 ENSG00000103546 chr16:55656842-55656842;G/A missense_variant False BMP2K@p.M142I 2 0.1459330145 ENSG00000138756 chr4:78842407-78842407;G/T missense_variant False BPI@p.M255I 2 0.281376518 ENSG00000101425 chr20:38320271-38320271;G/T missense_variant False OR6C6@p.E9Q 2 0.434225195 ENSG00000188324 chr12:55295208-55295208;C/G missense_variant False OR6C1@p.E68Q 2 0.1611781075 ENSG00000205330 chr12:55320801-55320801;G/C missense_variant False SLC7A6OS@p.R283T 2 0.4157324645 ENSG00000103061 chr16:68301357-68301357;C/G missense_variant False LRIT1@p.S397C 2 0.3287037035 ENSG00000148602 chr10:84232609-84232609;G/C missense_variant False RFLNB@p.F48L 2 0.2543681085 ENSG00000183688 chr17:443455-443455;G/T missense_variant False DDX46@p.Q311E 2 0.3541666665 ENSG00000145833 chr5:134781972-134781972;C/G missense_variant False TAS2R9@p.E163Q 2 0.1075 ENSG00000121381 chr12:10809589-10809589;C/G missense_variant False TAS2R9@p.L264F 2 0.27297116 ENSG00000121381 chr12:10809284-10809284;C/G missense_variant False ALK@p.R209C 2 0.4791666665 ENSG00000171094 chr2:29920035-29920035;G/A missense_variant True ALDH1A2@p.S22L 2 0.5511363635 ENSG00000128918 chr15:58065586-58065586;G/A missense_variant False ALG10@p.D37N 2 0.3232120515 ENSG00000139133 chr12:34022708-34022708;G/A missense_variant False CHRM3@p.E276K 2 0.3293010755 ENSG00000133019 chr1:239908277-239908277;G/A missense_variant False ITGB1BP1@p.E83Q 2 0.1462771355 ENSG00000119185 chr2:9412310-9412310;C/G missense_variant False GPNMB@p.D158N 2 0.264602054 ENSG00000136235 chr7:23256996-23256996;G/A missense_variant False ZFYVE21@p.E98Q 2 0.298456261 ENSG00000100711 chr14:103727848-103727848;G/C missense_variant False TAS1R3@p.E525K 2 0.2546296295 ENSG00000169962 chr1:1333352-1333352;G/A missense_variant False SLC9A5@p.L447F 2 0.244428639 ENSG00000135740 chr16:67257350-67257350;G/C missense_variant False PPARG@p.R164W 2 0.2765009385 ENSG00000132170 chr3:12392623-12392623;C/T missense_variant False TTN@p.G27624A 2 0.215050167 ENSG00000155657 chr2:178557468-178557468;C/G missense_variant False TTN@p.G24224D 2 0.1692131399999999 ENSG00000155657 chr2:178568538-178568538;C/T missense_variant False PPM1F@p.E304K 2 0.2912087915 ENSG00000100034 chr22:21925644-21925644;C/T missense_variant False OSBPL1A@p.D862H 2 0.5079264055 ENSG00000141447 chr18:24166654-24166654;C/G missense_variant False SLC4A1AP@p.E416K 2 0.1778982929999999 ENSG00000163798 chr2:27669288-27669288;G/A missense_variant False CHD7@p.N2457Y 2 0.1762320175 ENSG00000171316 chr8:60856649-60856649;A/T missense_variant False DDC@p.G203A 2 0.2359323884999999 ENSG00000132437 chr7:50528243-50528243;C/G missense_variant False DGKA@p.L360F 2 0.2777777775 ENSG00000065357 chr12:55940959-55940959;G/C missense_variant False MYPOP@p.R384T 2 0.22044277 ENSG00000176182 chr19:45890672-45890672;C/G missense_variant False TBCE@p.Q409E 2 0.3504273505 ENSG00000285053 chr1:235448363-235448363;C/G missense_variant False ZNF117@p.S96L 2 0.254750176 ENSG00000152926 chr7:64979284-64979284;G/A missense_variant False RELL2@p.E225K 2 0.1859243695 ENSG00000164620 chr5:141640089-141640089;G/A missense_variant False OR52N4@p.F261L 2 0.253441802 ENSG00000181074 chr11:5755523-5755523;C/G missense_variant False IVD@p.G159D 2 0.426940155 ENSG00000128928 chr15:40411270-40411270;G/A missense_variant False ZFHX4@p.L119F 2 0.1125140994999999 ENSG00000091656 chr8:76704445-76704445;A/C missense_variant False PPL@p.H326Y 2 0.3668154765 ENSG00000118898 chr16:4895713-4895713;G/A missense_variant False TTLL7@p.R606W 2 0.1375 ENSG00000137941 chr1:83907632-83907632;G/A missense_variant False LONRF1@p.E715K 2 0.282692308 ENSG00000154359 chr8:12725747-12725747;C/T missense_variant False BIRC6@p.R4713L 2 0.5693004355 ENSG00000115760 chr2:32607522-32607522;G/T missense_variant False AMOTL2@p.R756Kfs*98 2 0.166666667 ENSG00000114019 chr3:134358554-134358555;-/T frameshift_variant False PPM1B@p.M249I 2 0.1302729524999999 ENSG00000138032 chr2:44201946-44201946;G/C missense_variant False TTLL13P@p.D154Y 2 0.3048717755 None chr15:90255797-90255797;G/T missense_variant False GPR89A@p.E324K 2 0.177681992 ENSG00000188092 chr1:145663389-145663389;G/A missense_variant False RHOB@p.P75S 2 0.581300813 ENSG00000143878 chr2:20447688-20447688;C/T missense_variant False DDX10@p.E864K 2 0.166989039 ENSG00000178105 chr11:108940385-108940385;G/A missense_variant False BLZF1@p.R342T 2 0.415873016 ENSG00000117475 chr1:169387004-169387004;G/C missense_variant False ITPR3@p.Q466H 2 0.1765350875 ENSG00000096433 chr6:33665202-33665202;G/C missense_variant False ZMYM2@p.E686K 2 0.3556686845 ENSG00000121741 chr13:20034341-20034341;G/A missense_variant False ZFP36L2@p.E249K 2 0.090992647 ENSG00000152518 chr2:43225059-43225059;C/T missense_variant False TBC1D32@p.S1072F 2 0.286319955 ENSG00000146350 chr6:121112614-121112614;G/A missense_variant False OR8J3@p.S53C 2 0.286420353 ENSG00000167822 chr11:56137561-56137561;G/C missense_variant False CIITA@p.S244C 2 0.276386404 ENSG00000179583 chr16:10902760-10902760;C/G missense_variant False LPIN1@p.S889L 2 0.464025659 ENSG00000134324 chr2:11824784-11824784;C/T missense_variant False GPR50@p.Y11Mfs*17 2 0.199632578 ENSG00000102195 chrX:151176747-151176747;C/- frameshift_variant False FAM47A@p.R361H 2 0.2247645495 ENSG00000185448 chrX:34131197-34131197;C/T missense_variant False ISLR2@p.R5W 2 0.2857142855 ENSG00000167178 chr15:74132767-74132767;C/T missense_variant False CILP2@p.L494V 2 0.153846154 ENSG00000160161 chr19:19544025-19544025;C/G missense_variant False GPR68@p.H89N 2 0.641304348 ENSG00000119714 chr14:91234786-91234786;G/T missense_variant False BRD8@p.W901C 2 0.4366132725 ENSG00000112983 chr5:138152635-138152635;C/G missense_variant False GPAT3@p.S26L 2 0.19971537 ENSG00000138678 chr4:83536699-83536699;C/T missense_variant False RHOA@p.E172K 2 0.337002841 ENSG00000067560 chr3:49360277-49360277;C/T missense_variant False MYT1L@p.F424L 2 0.162191781 ENSG00000186487 chr2:1922497-1922497;G/T missense_variant False RHOB@p.E47K 2 0.348591549 ENSG00000143878 chr2:20447604-20447604;G/A missense_variant False OR5A1@p.S213L 2 0.241985495 ENSG00000172320 chr11:59443806-59443806;C/T missense_variant False PA2G4@p.D274N 2 0.344262295 ENSG00000170515 chr12:56110670-56110670;G/A missense_variant False DIDO1@p.E1409K 2 0.2322423705 ENSG00000101191 chr20:62881731-62881731;C/T missense_variant False MAN2B1@p.S899L 2 0.3313492065 ENSG00000104774 chr19:12647567-12647567;G/A missense_variant False ZC3HC1@p.E38K 2 0.258341759 ENSG00000091732 chr7:130051255-130051255;C/T missense_variant False CEP192@p.S2058L 2 0.1657427149999999 ENSG00000101639 chr18:13092446-13092446;C/T missense_variant False C2CD3@p.R964T 2 0.174578059 ENSG00000168014 chr11:74098097-74098097;C/G missense_variant False ZNF394@p.E529Q 2 0.1790145685 ENSG00000160908 chr7:99493630-99493630;C/G missense_variant False ZNF394@p.S57L 2 0.3918918919999999 ENSG00000160908 chr7:99499924-99499924;G/A missense_variant False PLEKHM2@p.S459L 2 0.3552631579999999 ENSG00000116786 chr1:15727448-15727448;C/T missense_variant False CMSS1@p.D80N 2 0.423766058 ENSG00000184220 chr3:100162315-100162315;G/A missense_variant False ETV6@p.E327Q 2 0.498685652 ENSG00000139083 chr12:11869939-11869939;G/C missense_variant False ETV6@p.D311N 2 0.461849639 ENSG00000139083 chr12:11869891-11869891;G/A missense_variant False C2orf16@p.E268K 2 0.374198718 chr2:27577374-27577374;G/A missense_variant False ANKS1B@p.R809K 2 0.351133076 ENSG00000185046 chr12:99154389-99154389;C/T missense_variant False ETV4@p.E30K 2 0.4 ENSG00000175832 chr17:43545340-43545340;C/T missense_variant False MAGEC1@p.P26S 2 0.5308974355 ENSG00000155495 chrX:141905480-141905480;C/T missense_variant False ROR2@p.V874I 2 0.2479037955 ENSG00000169071 chr9:91723874-91723874;C/T missense_variant False PARP1@p.D766N 2 0.2937176645 ENSG00000143799 chr1:226367590-226367590;C/T missense_variant False TRPA1@p.V302A 2 0.1758333335 ENSG00000104321 chr8:72061664-72061664;A/G missense_variant False DMXL2@p.S2209L 2 0.235671642 ENSG00000104093 chr15:51480078-51480078;G/A missense_variant False PRDM11@p.S420L 2 0.151042619 ENSG00000019485 chr11:45224631-45224631;C/T missense_variant False USP30@p.E136K 2 0.410457516 ENSG00000135093 chr12:109067553-109067553;G/A missense_variant False CEP135@p.H1046Y 2 0.1414285715 ENSG00000174799 chr4:56019476-56019476;C/T missense_variant False KCNC4@p.E403K 2 0.172537643 ENSG00000116396 chr1:110223492-110223492;G/A missense_variant False TRPM2@p.E220K 2 0.505681818 ENSG00000142185 chr21:44369230-44369230;G/A missense_variant False MYCBP2@p.E853Q 2 0.2731751825 ENSG00000005810 chr13:77233222-77233222;C/G missense_variant False GTF2E1@p.I72M 2 0.5740787695 ENSG00000153767 chr3:120750768-120750768;C/G missense_variant False TENM2@p.Q2701H 2 0.35 ENSG00000145934 chr5:168262588-168262588;G/C missense_variant False ANKRD34A@p.S95L 2 0.6754216865 ENSG00000272031 chr1:145961476-145961476;G/A missense_variant False FCGBP@p.R2196H 2 0.072660771 ENSG00000275395 chr19:39892056-39892056;C/T missense_variant False ADRA1A@p.I122M 2 0.3723536735 ENSG00000120907 chr8:26864604-26864604;G/C missense_variant False ANKRD35@p.I168M 2 0.1340250545 ENSG00000198483 chr1:145876196-145876196;G/C missense_variant False C1orf146@p.S92F 2 0.2546620045 chr1:92244331-92244331;C/T missense_variant False ING2@p.E159K 2 0.3991011235 ENSG00000168556 chr4:183510584-183510584;G/A missense_variant False INF2@p.R555W 2 0.303030303 ENSG00000203485 chr14:104707930-104707930;C/T missense_variant False CYTH4@p.E156K 2 0.145474138 ENSG00000100055 chr22:37300938-37300938;G/A missense_variant False PLIN3@p.Q111R 2 0.513803681 ENSG00000105355 chr19:4859606-4859606;T/C missense_variant False ANKRD40@p.P224R 2 0.1747066495 ENSG00000154945 chr17:50699506-50699506;G/C missense_variant False INAVA@p.E315K 2 0.3376344085 ENSG00000163362 chr1:200908843-200908843;G/A missense_variant False C1orf56@p.R338K 2 0.2530830364999999 chr1:151050445-151050445;G/A missense_variant False EXD1@p.G285R 2 0.1896825395 ENSG00000178997 chr15:41189966-41189966;C/T missense_variant False SLC22A12@p.D140H 2 0.181389578 ENSG00000197891 chr11:64592794-64592794;G/C missense_variant False TRPM6@p.A1537V 2 0.503875969 ENSG00000119121 chr9:74762061-74762061;G/A missense_variant False TENT4A@p.E269K 2 0.2751859365 ENSG00000112941 chr5:6737598-6737598;G/A missense_variant False GTF2IRD1@p.P275A 2 0.5139097745 ENSG00000006704 chr7:74519626-74519626;C/G missense_variant False SNCG@p.E68K 2 0.422619048 ENSG00000173267 chr10:86960039-86960039;G/A missense_variant False MXD4@p.E165Q 2 0.365523969 ENSG00000123933 chr4:2250681-2250681;C/G missense_variant False MXD4@p.E131Q 2 0.4315245475 ENSG00000123933 chr4:2251165-2251165;C/G missense_variant False IL1F10@p.E87K 2 0.286822679 ENSG00000136697 chr2:113075164-113075164;G/A missense_variant False CYP2A7@p.R446K 2 0.1917520355 ENSG00000198077 chr19:40875841-40875841;C/T missense_variant False RPGR@p.E540Q 2 0.749829235 ENSG00000156313 chrX:38287996-38287996;C/G missense_variant False UGP2@p.D253H 2 0.202410901 ENSG00000169764 chr2:63885770-63885770;G/C missense_variant False PAX3@p.S197L 2 0.1175923465 ENSG00000135903 chr2:222232280-222232280;G/A missense_variant False B3GNTL1@p.D56N 2 0.2322954135 ENSG00000175711 chr17:83048680-83048680;C/T missense_variant False GJA9@p.S87L 2 0.206551724 ENSG00000131233 chr1:38875839-38875839;G/A missense_variant False LATS1@p.E753Q 2 0.2316972205 ENSG00000131023 chr6:149680211-149680211;C/G missense_variant False CYP2A6@p.R446K 2 0.2869047615 ENSG00000255974 chr19:40843944-40843944;C/T missense_variant False RARG@p.S289F 2 0.4052203679999999 ENSG00000172819 chr12:53213648-53213648;G/A missense_variant False TRMT13@p.M367I 2 0.388733053 ENSG00000122435 chr1:100148177-100148177;G/C missense_variant False RPGRIP1L@p.D184H 2 0.133921451 ENSG00000103494 chr16:53687945-53687945;C/G missense_variant False KCNJ12@p.E116K 2 0.260869565 ENSG00000184185 chr17:21415688-21415688;G/A missense_variant False OR10T2@p.R123L 2 0.0560351885 ENSG00000186306 chr1:158399099-158399099;C/A missense_variant False ZNF442@p.S17C 2 0.074862096 ENSG00000198342 chr19:12363582-12363582;G/C missense_variant False CYP27A1@p.R451T 2 0.0821686745 ENSG00000135929 chr2:218814633-218814633;G/C missense_variant False IL17RC@p.R14Q 2 0.349264706 ENSG00000288550 chr3:9917356-9917356;G/A missense_variant False PRDX1@p.F42L 2 0.481229708 ENSG00000117450 chr1:45515788-45515788;G/C missense_variant False H1-3@p.I81M 2 0.2166605144999999 ENSG00000124575 chr6:26234691-26234691;G/C missense_variant False PRDM4@p.R106T 2 0.3692528735 ENSG00000110851 chr12:107753938-107753938;C/G missense_variant False TEX15@p.E677K 2 0.1971153845 ENSG00000133863 chr8:30846989-30846989;C/T missense_variant False C3@p.M1181I 2 0.4481658695 ENSG00000125730 chr19:6686849-6686849;C/T missense_variant False PRDM16@p.P936L 2 0.3088235295 ENSG00000142611 chr1:3417943-3417943;C/T missense_variant False SYNE1@p.E1179K 2 0.5087792640000001 ENSG00000131018 chr6:152447592-152447592;C/T missense_variant False KCNH5@p.F226L 2 0.317407182 ENSG00000140015 chr14:62981136-62981136;G/C missense_variant False MAGI2@p.P584L 2 0.3815384615 ENSG00000187391 chr7:78256239-78256239;G/A missense_variant False MVP@p.E412K 2 0.4369658119999999 ENSG00000013364 chr16:29841638-29841638;G/A missense_variant False C3orf20@p.F379L 2 0.1527639855 chr3:14704595-14704595;C/G missense_variant False PRDM16@p.E271Q 2 0.2067627495 ENSG00000142611 chr1:3402925-3402925;G/C missense_variant False GUCY2C@p.E995K 2 0.2482108 ENSG00000070019 chr12:14614931-14614931;C/T missense_variant False ZNF425@p.Q509E 2 0.281701445 ENSG00000204947 chr7:149104346-149104346;G/C missense_variant False YTHDF3@p.S436C 2 0.2096448745 ENSG00000185728 chr8:63187318-63187318;C/G missense_variant False LAX1@p.S170L 2 0.1181481485 ENSG00000122188 chr1:203773993-203773993;C/T missense_variant False FERMT2@p.D340E 2 0.4303791285 ENSG00000073712 chr14:52875301-52875301;G/C missense_variant False NEURL4@p.S970F 2 0.2416666665 ENSG00000215041 chr17:7321750-7321750;G/A missense_variant False ESRP2@p.E336Q 2 0.334838963 ENSG00000103067 chr16:68232267-68232267;C/G missense_variant False FERMT3@p.E499K 2 0.2326007325 ENSG00000149781 chr11:64220607-64220607;G/A missense_variant False SYMPK@p.P436A 2 0.499536608 ENSG00000125755 chr19:45835165-45835165;G/C missense_variant False CENPT@p.S245C 2 0.252718676 ENSG00000102901 chr16:67830518-67830518;G/C missense_variant False KCNH8@p.E834K 2 0.382632293 ENSG00000183960 chr3:19515386-19515386;G/A missense_variant False FETUB@p.E337K 2 0.150997151 ENSG00000090512 chr3:186652491-186652491;G/A missense_variant False MYH11@p.M1755I 2 0.373809524 ENSG00000133392 chr16:15718345-15718345;C/T missense_variant False ADRB1@p.E250K 2 0.112121212 ENSG00000043591 chr10:114044880-114044880;G/A missense_variant False TRPV3@p.T399M 2 0.5339285715 ENSG00000167723 chr17:3530073-3530073;G/A missense_variant False TDRD6@p.E501Q 2 0.168252248 ENSG00000180113 chr6:46689629-46689629;G/C missense_variant False AGL@p.E783Q 2 0.4355847404999999 ENSG00000162688 chr1:99884158-99884158;G/C missense_variant False MYLK2@p.P123L 2 0.1917367635 ENSG00000101306 chr20:31820441-31820441;C/T missense_variant False PML@p.E363K 2 0.207751938 ENSG00000140464 chr15:74023312-74023312;G/A missense_variant False BCL9@p.P1266S 2 0.1924019605 ENSG00000116128 chr1:147624474-147624474;C/T missense_variant False ZNF276@p.G163S 2 0.431900726 ENSG00000158805 chr16:89722812-89722812;G/A missense_variant False INTS5@p.S198L 2 0.3930741635 ENSG00000185085 chr11:62649487-62649487;G/A missense_variant False RBM26@p.P642A 2 0.430583004 ENSG00000139746 chr13:79354501-79354501;G/C missense_variant False OR2W1@p.D89H 2 0.156845085 ENSG00000204704 chr6:29044911-29044911;C/G missense_variant False ZC3H12B@p.R78C 2 0.1423076925 ENSG00000102053 chrX:65489033-65489033;C/T missense_variant False RNF123@p.E1169Q 2 0.1589581305 ENSG00000164068 chr3:49720515-49720515;G/C missense_variant False AGBL1@p.S808R 2 0.241509434 ENSG00000273540 chr15:86397415-86397415;C/A missense_variant False TSKU@p.G88S 2 0.119343002 ENSG00000182704 chr11:76795878-76795878;G/A missense_variant False MYH9@p.E1681K 2 0.3923626375 ENSG00000100345 chr22:36286738-36286738;C/T missense_variant False GNA13@p.R200T 2 0.1360326425 ENSG00000120063 chr17:65014792-65014792;C/G missense_variant False RNF141@p.Q8E 2 0.222439813 ENSG00000110315 chr11:10534137-10534137;G/C missense_variant False SLC27A1@p.E351K 2 0.2516469035 ENSG00000130304 chr19:17497309-17497309;G/A missense_variant False TSKS@p.E513K 2 0.231372549 ENSG00000126467 chr19:49740144-49740144;C/T missense_variant False INTS1@p.L1695V 2 0.155808729 ENSG00000164880 chr7:1476638-1476638;G/C missense_variant False DIPK2A@p.R116C 2 0.4642857145 ENSG00000181744 chr3:143972678-143972678;C/T missense_variant False DCAF12L1@p.A15T 2 0.180878553 ENSG00000198889 chrX:126552566-126552566;C/T missense_variant False SLC26A8@p.L717V 2 0.2884950149999999 ENSG00000112053 chr6:35955235-35955235;G/C missense_variant False RNASEL@p.H323Y 2 0.420279959 ENSG00000135828 chr1:182585840-182585840;G/A missense_variant False FADD@p.K149N 2 0.4301866475 ENSG00000168040 chr11:70206293-70206293;G/C missense_variant False PPP1R3C@p.W110Vfs*2 2 0.4462065235 ENSG00000119938 chr10:91630544-91630554;GCAGATCCCAC/- frameshift_variant False GRIN2A@p.R1376C 2 0.1366459629999999 ENSG00000183454 chr16:9763418-9763418;G/A missense_variant False DIDO1@p.Q1803H 2 0.2612781955 ENSG00000101191 chr20:62880547-62880547;C/G missense_variant False CLEC3B@p.E160K 2 0.5592705165 ENSG00000163815 chr3:45035793-45035793;G/A missense_variant False MYO15A@p.S268R 2 0.7843527985000001 ENSG00000091536 chr17:18119604-18119604;C/A missense_variant False MYO15A@p.R3134Q 2 0.34375 ENSG00000091536 chr17:18161331-18161331;G/A missense_variant False DIDO1@p.R1824T 2 0.62077573 ENSG00000101191 chr20:62880485-62880485;C/G missense_variant False LTBP2@p.V507M 2 0.4384236455 ENSG00000119681 chr14:74551231-74551231;C/T missense_variant False SYTL2@p.I440M 2 0.3154783365 ENSG00000137501 chr11:85734006-85734006;G/C missense_variant False RBM47@p.E176K 2 0.1545041435 ENSG00000163694 chr4:40438368-40438368;C/T missense_variant False NDEL1@p.S135L 2 0.3505244755 ENSG00000166579 chr17:8448564-8448564;C/T missense_variant False PACC1@p.I71M 2 0.2297579145 ENSG00000065600 chr1:212387021-212387021;G/C missense_variant False LIMK1@p.E592K 2 0.475763272 ENSG00000106683 chr7:74121042-74121042;G/A missense_variant False ZC3H4@p.E798K 2 0.275742337 ENSG00000130749 chr19:47069098-47069098;C/T missense_variant False CFAP54@p.L1726V 2 0.281605351 ENSG00000188596 chr12:96657957-96657957;C/G missense_variant False RNF111@p.S423F 2 0.381533101 ENSG00000157450 chr15:59058452-59058452;C/T missense_variant False UBE2D3@p.F62L 2 0.340587949 ENSG00000109332 chr4:102802573-102802573;G/C missense_variant False LILRA1@p.H410Y 2 0.290222942 ENSG00000104974 chr19:54596458-54596458;C/T missense_variant False PAH@p.R111Q 2 0.24106383 ENSG00000171759 chr12:102894755-102894755;C/T missense_variant False ZNF341@p.H463Y 2 0.155921272 ENSG00000131061 chr20:33767015-33767015;C/T missense_variant False TRRAP@p.G1201R 2 0.4392857145 ENSG00000196367 chr7:98931414-98931414;G/A missense_variant False BBS9@p.L757V 2 0.177795031 ENSG00000122507 chr7:33505616-33505616;C/G missense_variant False C1QL1@p.I232M 2 0.372376543 ENSG00000131094 chr17:44960269-44960269;G/C missense_variant False UBN1@p.H791Y 2 0.3065313404999999 ENSG00000118900 chr16:4874781-4874781;C/T missense_variant False PPP6R3@p.A308D 2 0.0394158695 ENSG00000110075 chr11:68564380-68564380;C/A missense_variant False DAGLA@p.R8Q 2 0.3234355045 ENSG00000134780 chr11:61720178-61720178;G/A missense_variant False MACF1@p.D7283N 2 0.306574074 ENSG00000127603 chr1:39484676-39484676;G/A missense_variant False FBXW7@p.R465C 2 0.662450187 ENSG00000109670 chr4:152328233-152328233;G/A missense_variant True GLTP@p.I18M 2 0.334027778 ENSG00000139433 chr12:109880321-109880321;G/C missense_variant False UBOX5@p.S417L 2 0.1611893585 ENSG00000185019 chr20:3121389-3121389;G/A missense_variant False PLXNA2@p.E1480K 2 0.284378596 ENSG00000076356 chr1:208039683-208039683;C/T missense_variant False TRRAP@p.E3353Q 2 0.23697479 ENSG00000196367 chr7:98994638-98994638;G/C missense_variant False FBXW7@p.S546L 2 0.4456766315 ENSG00000109670 chr4:152326013-152326013;G/A missense_variant True PLSCR1@p.H12N 2 0.139817442 ENSG00000188313 chr3:146533530-146533530;G/T missense_variant False LGALS9@p.R65W 2 0.2877518555 ENSG00000168961 chr17:27640633-27640633;C/T missense_variant False TENM1@p.L2450S 2 0.769859515 ENSG00000009694 chrX:124382740-124382740;A/G missense_variant False BBOX1@p.R101T 2 0.443929687 ENSG00000129151 chr11:27057283-27057283;G/C missense_variant False UBQLN2@p.Q192H 2 0.7167584579999999 ENSG00000188021 chrX:56564449-56564449;G/C missense_variant False DLL3@p.D318H 2 0.3291631625 ENSG00000090932 chr19:39505310-39505310;G/C missense_variant False PALM@p.T9M 2 0.2322244625 ENSG00000099864 chr19:726158-726158;C/T missense_variant False KAZN@p.E327K 2 0.1607411385 ENSG00000189337 chr1:15060234-15060234;G/A missense_variant False ZNF284@p.S46L 2 0.3553871564999999 ENSG00000186026 chr19:44081136-44081136;C/T missense_variant False EYA4@p.I342M 2 0.1856231729999999 ENSG00000112319 chr6:133481500-133481500;C/G missense_variant False SMC4@p.D1126H 2 0.1799242425 ENSG00000113810 chr3:160432361-160432361;G/C missense_variant False MYH7B@p.I522M 2 0.5363270575 ENSG00000078814 chr20:34988118-34988118;C/G missense_variant False DBF4@p.E595K 2 0.4162084625 ENSG00000006634 chr7:87907921-87907921;G/A missense_variant False CFAP221@p.E823K 2 0.1744578995 ENSG00000163075 chr2:119656414-119656414;G/A missense_variant False UBE3A@p.M825I 2 0.213207547 ENSG00000114062 chr15:25340117-25340117;C/T missense_variant False NDUFV2@p.G242A 2 0.1038191395 ENSG00000178127 chr18:9134254-9134254;G/C missense_variant False CLK2@p.D327H 2 0.537177986 ENSG00000176444 chr1:155264729-155264729;C/G missense_variant False ZBTB5@p.P450A 2 0.3687782805 ENSG00000168795 chr9:37441204-37441204;G/C missense_variant False AFF4@p.R1156C 2 0.4462686565 ENSG00000072364 chr5:132881085-132881085;G/A missense_variant False EXPH5@p.S682F 2 0.3343023255 ENSG00000110723 chr11:108513462-108513462;G/A missense_variant False ANKRD12@p.E627K 2 0.2386630324999999 ENSG00000101745 chr18:9255146-9255146;G/A missense_variant False UBE3C@p.R44Q 2 0.2649971295 ENSG00000009335 chr7:157169058-157169058;G/A missense_variant False NEB@p.I1047M 2 0.2076719575 ENSG00000183091 chr2:151679924-151679924;G/C missense_variant False AFF3@p.E894K 2 0.3490646255 ENSG00000144218 chr2:99582911-99582911;C/T missense_variant False TECTA@p.P581T 2 0.1935654005 ENSG00000109927 chr11:121125839-121125839;C/A missense_variant False PPP4R3B@p.E285Q 2 0.583406884 ENSG00000275052 chr2:55598484-55598484;C/G missense_variant False PPP4R3B@p.E323Q 2 0.090695489 ENSG00000275052 chr2:55588911-55588911;C/G missense_variant False LZTR1@p.L651V 2 0.426991417 ENSG00000099949 chr22:20995754-20995754;C/G missense_variant False SF1@p.G154R 2 0.3571428574999999 ENSG00000168066 chr11:64769983-64769983;C/G missense_variant False POU3F1@p.E355K 2 0.387700535 ENSG00000185668 chr1:38045681-38045681;C/T missense_variant False HRAS@p.K117N 2 0.201883117 ENSG00000174775 chr11:533552-533552;C/G missense_variant True TM4SF4@p.D199H 2 0.4163254405 ENSG00000169903 chr3:149502679-149502679;G/C missense_variant False KLHDC2@p.R241T 2 0.2108061749999999 ENSG00000165516 chr14:49779755-49779755;G/C missense_variant False KIF21B@p.E415K 2 0.2538085655 ENSG00000116852 chr1:201002320-201002320;C/T missense_variant False TP53@p.D259V 2 0.2972486964999999 ENSG00000141510 chr17:7674187-7674187;T/A missense_variant True COQ6@p.P457A 2 0.4360356315 ENSG00000119723 chr14:73961895-73961895;C/G missense_variant False CCDC71@p.E180Q 2 0.6132246379999999 ENSG00000177352 chr3:49163671-49163671;C/G missense_variant False CSN3@p.R78C 2 0.1442551235 ENSG00000171209 chr4:70249142-70249142;C/T missense_variant False ELF3@p.S358L 2 0.1288223809999999 ENSG00000163435 chr1:202015280-202015280;C/T missense_variant False ACADS@p.S31F 2 0.3170489435 ENSG00000122971 chr12:120727071-120727071;C/T missense_variant False CCDC9B@p.E469K 2 0.4697656845 ENSG00000188549 chr15:40335358-40335358;C/T missense_variant False ZSWIM8@p.D138N 2 0.3552929085 ENSG00000214655 chr10:73789145-73789145;G/A missense_variant False PUF60@p.S396L 2 0.142857143 ENSG00000179950 chr8:143817103-143817103;G/A missense_variant False TMEM31@p.L165V 2 0.4541062805 ENSG00000179363 chrX:103713984-103713984;C/G missense_variant False VEPH1@p.S425C 2 0.188125 ENSG00000197415 chr3:157364366-157364366;G/C missense_variant False VWA8@p.S370C 2 0.256260163 ENSG00000102763 chr13:41868449-41868449;G/C missense_variant False SAMD9@p.E218K 2 0.1319170725 ENSG00000205413 chr7:93105446-93105446;C/T missense_variant False FREM2@p.R2289T 2 0.4132415255 ENSG00000150893 chr13:38851809-38851809;G/C missense_variant False NUCB1@p.R31Q 2 0.236631684 ENSG00000104805 chr19:48900888-48900888;G/A missense_variant False KMT5B@p.R335T 2 0.1100096715 ENSG00000110066 chr11:68167152-68167152;C/G missense_variant False ELF3@p.W138C 2 0.259005928 ENSG00000163435 chr1:202012372-202012372;G/T missense_variant False SRRM2@p.S931F 2 0.199440683 ENSG00000167978 chr16:2763320-2763320;C/T missense_variant False ELF4@p.S361F 2 0.477750809 ENSG00000102034 chrX:130069405-130069405;G/A missense_variant False CD2BP2@p.D104H 2 0.251863354 ENSG00000169217 chr16:30353966-30353966;C/G missense_variant False NSUN7@p.I68M 2 0.310119979 ENSG00000179299 chr4:40750897-40750897;C/G missense_variant False SRRM2@p.S536F 2 0.3937626045 ENSG00000167978 chr16:2762135-2762135;C/T missense_variant False FOXA1@p.*473Sfs*11 2 0.188782051 ENSG00000129514 chr14:37591368-37591368;G/- frameshift_variant False PTPN4@p.Q155E 2 0.352802442 ENSG00000088179 chr2:119882146-119882146;C/G missense_variant False CCDC181@p.E16K 2 0.2660060975 ENSG00000117477 chr1:169424882-169424882;C/T missense_variant False TM6SF1@p.S15W 2 0.393023256 ENSG00000136404 chr15:83107724-83107724;C/G missense_variant False ZSCAN1@p.E309K 2 0.3375 ENSG00000152467 chr19:58053749-58053749;G/A missense_variant False PHLPP1@p.L703* 2 0.3401360545 ENSG00000081913 chr18:62895050-62895050;T/- frameshift_variant False WDHD1@p.L442V 2 0.385416667 ENSG00000198554 chr14:54991230-54991230;G/C missense_variant False MIER1@p.E465Q 2 0.2634971795 ENSG00000198160 chr1:66984754-66984754;G/C missense_variant False SAMD9@p.K419E 2 0.483036228 ENSG00000205413 chr7:93104843-93104843;T/C missense_variant False EIF4A3@p.D154H 2 0.1963562755 ENSG00000141543 chr17:80140053-80140053;C/G missense_variant False ZSWIM8@p.E680K 2 0.3238636365 ENSG00000214655 chr10:73792577-73792577;G/A missense_variant False ATM@p.E2164Q 2 0.1530741265 ENSG00000149311 chr11:108321338-108321338;G/C missense_variant True TNC@p.Y331D 2 0.1449579835 ENSG00000041982 chr9:115086740-115086740;A/C missense_variant False KIR3DL1@p.R41Q 2 0.342016807 ENSG00000167633 chr19:54818366-54818366;G/A missense_variant False SCG2@p.E488Q 2 0.2495791245 ENSG00000171951 chr2:223597821-223597821;C/G missense_variant False RYR3@p.R427P 2 0.2061764705 ENSG00000198838 chr15:33579987-33579987;G/C missense_variant False CCDC110@p.H551R 2 0.279009434 ENSG00000168491 chr4:185458935-185458935;T/C missense_variant False ZRANB3@p.M296I 2 0.1647704185 ENSG00000121988 chr2:135313567-135313567;C/G missense_variant False MON2@p.S600L 2 0.2824005105 ENSG00000061987 chr12:62535608-62535608;C/T missense_variant False KLF5@p.S118L 2 0.144818634 ENSG00000102554 chr13:73061952-73061952;C/T missense_variant False MMAA@p.R300Q 2 0.3509852215 ENSG00000151611 chr4:145654073-145654073;G/A missense_variant False SETD4@p.E32Q 2 0.279424307 ENSG00000185917 chr21:36057184-36057184;C/G missense_variant False PFKFB3@p.L107F 2 0.2498197549999999 ENSG00000170525 chr10:6216146-6216146;G/C missense_variant False WASHC2C@p.E434Q 2 0.195215311 ENSG00000172661 chr10:45754995-45754995;G/C missense_variant False TP53@p.C124Wfs*25 2 0.5677428865 ENSG00000141510 chr17:7675997-7675998;-/C frameshift_variant True MDP1@p.M145I 2 0.2341925094999999 ENSG00000213920 chr14:24214120-24214120;C/A missense_variant False EMID1@p.E163Q 2 0.332284339 ENSG00000186998 chr22:29231041-29231041;G/C missense_variant False ELF3@p.M324Ifs*2 2 0.1114551085 ENSG00000163435 chr1:202013992-202013993;-/AT frameshift_variant False TMPRSS15@p.D460N 2 0.5880672229999999 ENSG00000154646 chr21:18343556-18343556;C/T missense_variant False SCNM1@p.D220N 2 0.2722215034999999 ENSG00000163156 chr1:151169050-151169050;G/A missense_variant False CDC42BPG@p.R617Q 2 0.5021668475 ENSG00000171219 chr11:64835530-64835530;C/T missense_variant False ATP10A@p.H502L 2 0.1955555555 ENSG00000206190 chr15:25718258-25718258;T/A missense_variant False FOXL2@p.E118K 2 0.4831746035 ENSG00000183770 chr3:138946371-138946371;C/T missense_variant True ZNF75A@p.S286L 2 0.4887504325 ENSG00000162086 chr16:3317835-3317835;C/T missense_variant False CCDC102A@p.E462K 2 0.200735294 ENSG00000135736 chr16:57516328-57516328;C/T missense_variant False PDZD2@p.R978T 2 0.315676141 ENSG00000133401 chr5:32074039-32074039;G/C missense_variant False SPEF2@p.M235I 2 0.123967931 ENSG00000152582 chr5:35646786-35646786;G/T missense_variant False GALNTL6@p.L64F 2 0.471212121 ENSG00000174473 chr4:172229709-172229709;G/C missense_variant False PCLO@p.M3757V 2 0.3552419355 ENSG00000186472 chr7:82916717-82916717;T/C missense_variant False EFCAB13@p.L734F 2 0.1848089015 ENSG00000178852 chr17:47404602-47404602;G/C missense_variant False ZNF75D@p.E269Q 2 0.2666666665 ENSG00000186376 chrX:135291027-135291027;C/G missense_variant False NOP58@p.L151F 2 0.2755128205 ENSG00000055044 chr2:202287678-202287678;G/T missense_variant False KLF6@p.D190N 2 0.253333333 ENSG00000067082 chr10:3781749-3781749;C/T missense_variant False PCLO@p.K4498I 2 0.1330014225 ENSG00000186472 chr7:82902686-82902686;T/A missense_variant False NOG@p.E188K 2 0.2251602565 ENSG00000183691 chr17:56594785-56594785;G/A missense_variant False NOTCH4@p.D1288N 2 0.361143752 ENSG00000204301 chr6:32201394-32201394;C/T missense_variant False TP53@p.C238F 2 0.629877369 ENSG00000141510 chr17:7674250-7674250;C/A missense_variant True FOXL2@p.E69D 2 0.2503785675 ENSG00000183770 chr3:138946516-138946516;C/G missense_variant True NUP188@p.M658I 2 0.1964089004999999 ENSG00000095319 chr9:128984912-128984912;G/A missense_variant False PTPN4@p.M887I 2 0.4154892725 ENSG00000088179 chr2:119967939-119967939;G/A missense_variant False HTR3D@p.E403K 2 0.340909091 ENSG00000186090 chr3:184038817-184038817;G/A missense_variant False TP53@p.H214R 2 0.555889423 ENSG00000141510 chr17:7674890-7674890;T/C missense_variant True TMEM131@p.E1319K 2 0.240143369 ENSG00000075568 chr2:97792575-97792575;C/T missense_variant False HIKESHI@p.S134L 2 0.234557633 ENSG00000149196 chr11:86337511-86337511;C/T missense_variant False DSCAML1@p.P1277L 2 0.1169801325 ENSG00000177103 chr11:117450607-117450607;G/A missense_variant False COL7A1@p.S2378F 2 0.3828571429999999 ENSG00000114270 chr3:48571132-48571132;G/A missense_variant False NOS3@p.G440Afs*64 2 0.313346228 ENSG00000164867 chr7:151001310-151001310;G/- frameshift_variant False ECM1@p.E239K 2 0.1084466715 ENSG00000143369 chr1:150511463-150511463;G/A missense_variant False SPTBN1@p.S733L 2 0.2128969745 ENSG00000115306 chr2:54629332-54629332;C/T missense_variant False ATM@p.R2713K 2 0.3111356724999999 ENSG00000149311 chr11:108335096-108335096;G/A missense_variant True ZNF99@p.S578L 2 0.162280702 ENSG00000213973 chr19:22758176-22758176;G/A missense_variant False EIF4G1@p.E803Q 2 0.3202614379999999 ENSG00000114867 chr3:184323912-184323912;G/C missense_variant False MINDY1@p.H365Y 2 0.3271251189999999 ENSG00000143409 chr1:150998162-150998162;G/A missense_variant False USP40@p.S148C 2 0.5777414075 ENSG00000085982 chr2:233556958-233556958;G/C missense_variant False NPHP3@p.E26K 2 0.5515873015 ENSG00000113971 chr3:132722280-132722280;C/T missense_variant False STBD1@p.S129C 2 0.243083004 ENSG00000118804 chr4:76309309-76309309;C/G missense_variant False CRYBG3@p.E2040K 2 0.3810629515 ENSG00000080200 chr3:97877312-97877312;G/A missense_variant False MOAP1@p.E180K 2 0.678030303 ENSG00000165943 chr14:93183705-93183705;C/T missense_variant False PDZRN3@p.L769Afs*55 2 0.195567145 ENSG00000121440 chr3:73384262-73384263;-/G frameshift_variant False CD99@p.E184Q 2 0.1633405845 ENSG00000292348 chrX:2740796-2740796;G/C missense_variant False CBX4@p.N231Qfs*81 2 0.1514294225 ENSG00000141582 chr17:79834951-79834952;-/G frameshift_variant False SCARF2@p.E540Q 2 0.3260504205 ENSG00000244486 chr22:20427488-20427488;C/G missense_variant False ABHD15@p.Q446H 2 0.4148351645 ENSG00000168792 chr17:29562630-29562630;C/G missense_variant False HLA-DRA@p.P7S 2 0.452685422 ENSG00000204287 chr6:32439969-32439969;C/T missense_variant False TP53@p.L257Q 2 0.1643026005 ENSG00000141510 chr17:7674193-7674193;A/T missense_variant True MDGA2@p.R1024G 2 0.1888141295 ENSG00000139915 chr14:46841939-46841939;G/C missense_variant False CD248@p.R297C 2 0.55 ENSG00000174807 chr11:66316139-66316139;G/A missense_variant False PIGS@p.I100M 2 0.2315521625 ENSG00000087111 chr17:28563894-28563894;G/C missense_variant False ABCA12@p.S2331L 2 0.3683168315 ENSG00000144452 chr2:214948708-214948708;G/A missense_variant False ZNF714@p.E81Q 2 0.2593596059999999 ENSG00000160352 chr19:21116905-21116905;G/C missense_variant False ZNF98@p.S391L 2 0.243265993 ENSG00000197360 chr19:22392063-22392063;G/A missense_variant False WAS@p.R321P 2 0.2435897435 ENSG00000015285 chrX:48688690-48688690;G/C missense_variant False SPESP1@p.F121L 2 0.324074074 ENSG00000258484 chr15:68945897-68945897;C/G missense_variant False TP53@p.K139N 2 0.781079235 ENSG00000141510 chr17:7675195-7675195;C/G missense_variant True SACS@p.H3667Y 2 0.1710977699999999 ENSG00000151835 chr13:23332877-23332877;G/A missense_variant False SCN3A@p.E1171K 2 0.543804131 ENSG00000153253 chr2:165115458-165115458;C/T missense_variant False EFCC1@p.S581L 2 0.416502754 ENSG00000114654 chr3:129039793-129039793;C/T missense_variant False MLIP@p.Q117E 2 0.11352657 ENSG00000146147 chr6:54124602-54124602;C/G missense_variant False HRAS@p.G12D 2 0.473881932 ENSG00000174775 chr11:534288-534288;C/T missense_variant True ACACB@p.E2318Q 2 0.2179035895 ENSG00000076555 chr12:109265119-109265119;G/C missense_variant False TP53@p.G245S 2 0.394736842 ENSG00000141510 chr17:7674230-7674230;C/T missense_variant True CREBBP@p.D1435H 2 0.34375 ENSG00000005339 chr16:3738650-3738650;C/G missense_variant True NR3C1@p.R491Q 2 0.2576530609999999 ENSG00000113580 chr5:143300760-143300760;C/T missense_variant False TP53@p.R282W 2 0.4131578944999999 ENSG00000141510 chr17:7673776-7673776;G/A missense_variant True PTPRF@p.S123L 2 0.377470356 ENSG00000142949 chr1:43553930-43553930;C/T missense_variant False ZNF721@p.K396T 2 0.308475509 ENSG00000182903 chr4:443244-443244;T/G missense_variant False KNDC1@p.R990G 2 0.6333333335 ENSG00000171798 chr10:133200439-133200439;A/G missense_variant False ZNF700@p.Q664E 2 0.4880503145 ENSG00000196757 chr19:11950014-11950014;C/G missense_variant False WASF3@p.E426K 2 0.280298527 ENSG00000132970 chr13:26682899-26682899;G/A missense_variant False SPOP@p.D130H 2 0.1688995765 ENSG00000121067 chr17:49619073-49619073;C/G missense_variant True CCDC40@p.S717C 2 0.3462246774999999 ENSG00000141519 chr17:80084903-80084903;C/G missense_variant False SASH1@p.E867Q 2 0.595847327 ENSG00000111961 chr6:148544069-148544069;G/C missense_variant False CCDC40@p.E755Q 2 0.366475316 ENSG00000141519 chr17:80086030-80086030;G/C missense_variant False KLHL15@p.D185G 2 0.437522936 ENSG00000174010 chrX:24006140-24006140;T/C missense_variant False EFCAB5@p.M238I 2 0.6956815115 ENSG00000176927 chr17:29969314-29969314;G/A missense_variant False VWF@p.S2559L 2 0.432055749 ENSG00000110799 chr12:5969264-5969264;G/A missense_variant False VCAN@p.R1336Q 2 0.5 ENSG00000038427 chr5:83537010-83537010;G/A missense_variant False TP53@p.R273S 2 0.3575317605 ENSG00000141510 chr17:7673803-7673803;G/T missense_variant True NOS1@p.R1262Q 2 0.224650594 ENSG00000089250 chr12:117225057-117225057;C/T missense_variant False SELE@p.E474Q 2 0.328063241 ENSG00000007908 chr1:169727787-169727787;C/G missense_variant False HMGA1@p.E22Q 2 0.295 ENSG00000137309 chr6:34240844-34240844;G/C missense_variant False SPN@p.E393K 2 0.5357142859999999 ENSG00000197471 chr16:29664905-29664905;G/A missense_variant False KIF23@p.E350K 2 0.576344086 ENSG00000137807 chr15:69429189-69429189;G/A missense_variant False HRAS@p.G13R 2 0.483333333 ENSG00000174775 chr11:534286-534286;C/G missense_variant True MN1@p.S472L 2 0.4472920695 ENSG00000169184 chr22:27799129-27799129;G/A missense_variant False MET@p.L57V 2 0.290573485 ENSG00000105976 chr7:116699253-116699253;C/G missense_variant True FOXQ1@p.N146del 2 0.2074510855 ENSG00000164379 chr6:1313139-1313141;CAA/- inframe_deletion False TP53@p.G245V 2 0.2762626265 ENSG00000141510 chr17:7674229-7674229;C/A missense_variant True ARID1A@p.D1850Gfs*4 2 0.558573854 ENSG00000117713 chr1:26779439-26779440;-/G frameshift_variant True ASXL2@p.E330K 2 0.3167138445 ENSG00000143970 chr2:25756066-25756066;C/T missense_variant False ARSG@p.T325A 2 0.058760911 ENSG00000141337 chr17:68370515-68370515;A/G missense_variant False PEAK1@p.Q997E 2 0.3963831865 ENSG00000173517 chr15:77178938-77178938;G/C missense_variant False ASXL2@p.E330Q 2 0.2533598805 ENSG00000143970 chr2:25756066-25756066;C/G missense_variant False EEFSEC@p.E563K 2 0.402701716 ENSG00000132394 chr3:128408155-128408155;G/A missense_variant False ZNF99@p.H531Y 2 0.3366666665 ENSG00000213973 chr19:22758318-22758318;G/A missense_variant False PYCR3@p.E249Q 2 0.3884615385 ENSG00000104524 chr8:143605780-143605780;C/G missense_variant False TOPORS@p.D96N 2 0.140740741 ENSG00000197579 chr9:32544239-32544239;C/T missense_variant False KRAS@p.L19F 2 0.376142698 ENSG00000133703 chr12:25245328-25245328;C/G missense_variant True STK33@p.E328K 2 0.3228663445 ENSG00000130413 chr11:8436105-8436105;C/T missense_variant False TP73@p.S81L 2 0.1333333334999999 ENSG00000078900 chr1:3707604-3707604;C/T missense_variant False PTPRT@p.D873Y 2 0.6066654785 ENSG00000196090 chr20:42161417-42161417;C/A missense_variant False PTPRS@p.E366K 2 0.3527716185 ENSG00000105426 chr19:5244375-5244375;C/T missense_variant False ZNF773@p.E18Q 2 0.164399237 ENSG00000152439 chr19:57504675-57504675;G/C missense_variant False ABCC8@p.R836Q 2 0.543181818 ENSG00000006071 chr11:17412715-17412715;C/T missense_variant False CCDC88B@p.N1456S 2 0.1696428569999999 ENSG00000168071 chr11:64355620-64355620;A/G missense_variant False PTCH1@p.D57N 2 0.3285024155 ENSG00000185920 chr9:95508193-95508193;C/T missense_variant True KRAS@p.G12V 2 0.5323565325 ENSG00000133703 chr12:25245350-25245350;C/A missense_variant True SEZ6L@p.D227N 2 0.571174478 ENSG00000100095 chr22:26292990-26292990;G/A missense_variant False KRAS@p.G12C 2 0.45875576 ENSG00000133703 chr12:25245351-25245351;C/A missense_variant True PIK3CA@p.E453Q 2 0.436838345 ENSG00000121879 chr3:179210291-179210291;G/C missense_variant True VILL@p.E29K 2 0.136845172 ENSG00000136059 chr3:37993922-37993922;G/A missense_variant False ZP4@p.P53L 2 0.2044212615 ENSG00000116996 chr1:237890478-237890478;G/A missense_variant False PDE6A@p.E489K 2 0.117776313 ENSG00000132915 chr5:149896719-149896719;C/T missense_variant False CPS1@p.K751N 2 0.40525628 ENSG00000021826 chr2:210608421-210608421;G/C missense_variant False PIK3CA@p.E453K 2 0.157632496 ENSG00000121879 chr3:179210291-179210291;G/A missense_variant True TNS3@p.S119L 2 0.2438565305 ENSG00000136205 chr7:47428345-47428345;G/A missense_variant False NRAS@p.Q61R 2 0.336369156 ENSG00000213281 chr1:114713908-114713908;T/C missense_variant True NTNG1@p.V276A 2 0.278815629 ENSG00000162631 chr1:107324862-107324862;T/C missense_variant False ST8SIA3@p.A192T 2 0.4695129005 ENSG00000177511 chr18:57357184-57357184;G/A missense_variant False PIK3CA@p.E365K 2 0.363756033 ENSG00000121879 chr3:179204536-179204536;G/A missense_variant True ELF3@p.K236N 2 0.2196423685 ENSG00000163435 chr1:202013201-202013201;G/C missense_variant False PEX13@p.M40I 2 0.3586091329999999 ENSG00000162928 chr2:61031446-61031446;G/C missense_variant False KPTN@p.E183Q 2 0.4796216095 ENSG00000118162 chr19:47480812-47480812;C/G missense_variant False HNRNPA2B1@p.E34K 2 0.154048583 ENSG00000122566 chr7:26197675-26197675;C/T missense_variant False MEGF8@p.E2283K 2 0.122855182 ENSG00000105429 chr19:42370201-42370201;G/A missense_variant False RYR2@p.T2522I 2 0.265534383 ENSG00000198626 chr1:237649929-237649929;C/T missense_variant False ATAD5@p.E722K 2 0.301783724 ENSG00000176208 chr17:30840704-30840704;G/A missense_variant False PCOLCE2@p.S337W 2 0.394805195 ENSG00000163710 chr3:142820985-142820985;G/C missense_variant False CARMIL1@p.D227N 2 0.1238095234999999 ENSG00000079691 chr6:25465937-25465937;G/A missense_variant False HSPD1@p.E181Q 2 0.1438829785 ENSG00000144381 chr2:197494722-197494722;C/G missense_variant False DST@p.E1632D 2 0.4581927575 ENSG00000151914 chr6:56609099-56609099;C/G missense_variant False WDR41@p.H288D 2 0.30877193 ENSG00000164253 chr5:77440833-77440833;G/C missense_variant False CDCA7L@p.Q89H 2 0.4150515105 ENSG00000164649 chr7:21911653-21911653;C/G missense_variant False EEA1@p.H64R 2 0.2717980085 ENSG00000102189 chr12:92864914-92864914;T/C missense_variant False STK32B@p.F292L 2 0.140604077 ENSG00000152953 chr4:5460195-5460195;C/A missense_variant False ELF3@p.E262Q 2 0.337442219 ENSG00000163435 chr1:202013277-202013277;G/C missense_variant False DST@p.E1588Q 2 0.470940728 ENSG00000151914 chr6:56609233-56609233;C/G missense_variant False PIK3CA@p.M1043I 2 0.240629984 ENSG00000121879 chr3:179234286-179234286;G/C missense_variant True SPDYE3@p.D544N 2 0.4578201975 ENSG00000214300 chr7:100319970-100319970;G/A missense_variant False EGFLAM@p.R368Q 2 0.20668693 ENSG00000164318 chr5:38407102-38407102;G/A missense_variant False VAT1L@p.A128V 2 0.266737388 ENSG00000171724 chr16:77825265-77825265;C/T missense_variant False COX6A1@p.S8L 2 0.4584398975 ENSG00000111775 chr12:120438149-120438149;C/T missense_variant False CCDC28A@p.E114K 2 0.435368149 ENSG00000024862 chr6:138785244-138785244;G/A missense_variant False CCND1@p.S41L 2 0.317541506 ENSG00000110092 chr11:69641435-69641435;C/T missense_variant False KLHL31@p.S435L 2 0.3320802005 ENSG00000124743 chr6:53652199-53652199;G/A missense_variant False ZPLD1@p.S355L 2 0.3223566975 ENSG00000170044 chr3:102477033-102477033;C/T missense_variant False WDCP@p.Q596E 2 0.463853292 ENSG00000163026 chr2:24037709-24037709;G/C missense_variant False TP53@p.A161T 2 0.7145030425000001 ENSG00000141510 chr17:7675131-7675131;C/T missense_variant True SETX@p.L224V 2 0.5580357145 ENSG00000107290 chr9:132336344-132336344;G/C missense_variant False KIAA0319L@p.D776H 2 0.3467845954999999 ENSG00000142687 chr1:35449894-35449894;C/G missense_variant False PIK3CA@p.H1047L 2 0.3728786675 ENSG00000121879 chr3:179234297-179234297;A/T missense_variant True MISP@p.P492L 2 0.5709459459999999 ENSG00000099812 chr19:758421-758421;C/T missense_variant False STK33@p.D7H 2 0.3226010099999999 ENSG00000130413 chr11:8474887-8474887;C/G missense_variant False USP53@p.S256C 2 0.3155642919999999 ENSG00000145390 chr4:119260598-119260598;C/G missense_variant False EMSY@p.A1082T 2 0.277247537 ENSG00000158636 chr11:76544793-76544793;G/A missense_variant False COPS4@p.L249V 2 0.2888636935 ENSG00000138663 chr4:83063105-83063105;C/G missense_variant False VGF@p.E433K 2 0.3118421055 ENSG00000128564 chr7:101163547-101163547;C/T missense_variant False EIF3I@p.R77P 2 0.0852586385 ENSG00000084623 chr1:32224455-32224455;G/C missense_variant False EMILIN2@p.G694R 2 0.449145299 ENSG00000132205 chr18:2892207-2892207;G/A missense_variant False CCDC30@p.R177Q 2 0.115131579 ENSG00000186409 chr1:42545555-42545555;G/A missense_variant False PTPRZ1@p.S1254C 2 0.380809595 ENSG00000106278 chr7:122012807-122012807;C/G missense_variant False HEPHL1@p.D178N 2 0.3350937295 ENSG00000181333 chr11:94063624-94063624;G/A missense_variant False VGF@p.S559L 2 0.246031746 ENSG00000128564 chr7:101163168-101163168;G/A missense_variant False TOPORS@p.A95V 2 0.1386674685 ENSG00000197579 chr9:32544241-32544241;G/A missense_variant False NSD1@p.E524K 2 0.368865201 ENSG00000165671 chr5:177209969-177209969;G/A missense_variant False COL27A1@p.S576G 2 0.0791935485 ENSG00000196739 chr9:114169281-114169281;A/G missense_variant False EIF3I@p.Q132H 2 0.3854230065 ENSG00000084623 chr1:32226316-32226316;G/C missense_variant False COPZ2@p.E89Q 2 0.188235294 ENSG00000005243 chr17:48033866-48033866;C/G missense_variant False CDC6@p.D218H 2 0.3934225195 ENSG00000094804 chr17:40291660-40291660;G/C missense_variant False GABRB1@p.L463F 2 0.2955039525 ENSG00000163288 chr4:47425980-47425980;C/T missense_variant False METTL3@p.E516K 2 0.491414707 ENSG00000165819 chr14:21499110-21499110;C/T missense_variant False MEGF8@p.R2683H 2 0.1828644505 ENSG00000105429 chr19:42376285-42376285;G/A missense_variant False NPAS4@p.R132C 2 0.3432403045 ENSG00000174576 chr11:66422517-66422517;C/T missense_variant False EEF1A1@p.S291C 2 0.1875300915 ENSG00000156508 chr6:73518511-73518511;G/C missense_variant False ELAVL4@p.A103V 2 0.271780303 ENSG00000162374 chr1:50177146-50177146;C/T missense_variant False FREM2@p.E2255K 2 0.393939394 ENSG00000150893 chr13:38851706-38851706;G/A missense_variant False VPS33A@p.E17K 2 0.186883117 ENSG00000139719 chr12:122266360-122266360;C/T missense_variant False MCM9@p.Q360E 2 0.2101639344999999 ENSG00000111877 chr6:118911722-118911722;G/C missense_variant False PDE3B@p.P758S 2 0.34905888 ENSG00000152270 chr11:14835047-14835047;C/T missense_variant False HGS@p.S701L 2 0.2515406165 ENSG00000185359 chr17:81700780-81700780;C/T missense_variant False KLF5@p.D418N 2 0.253225135 ENSG00000102554 chr13:73075764-73075764;G/A missense_variant False PDSS2@p.S19F 2 0.4837807605 ENSG00000164494 chr6:107459230-107459230;G/A missense_variant False SPIDR@p.P761Q 2 0.1975051975 ENSG00000164808 chr8:47713582-47713582;C/A missense_variant False FZD7@p.E132K 2 0.287922833 ENSG00000155760 chr2:202035041-202035041;G/A missense_variant False NRG3@p.L694M 2 0.1551379445 ENSG00000185737 chr10:82985522-82985522;C/A missense_variant False HSPB8@p.E84K 2 0.3448051949999999 ENSG00000152137 chr12:119179562-119179562;G/A missense_variant False HELZ2@p.E1289Q 2 0.322580645 ENSG00000130589 chr20:63564957-63564957;C/G missense_variant False SERBP1@p.S187C 2 0.417119565 ENSG00000142864 chr1:67425128-67425128;G/C missense_variant False DYNC1H1@p.R3620K 2 0.2096088435 ENSG00000197102 chr14:102036593-102036593;G/A missense_variant False ELAVL1@p.I103Nfs*53 2 0.272658035 ENSG00000066044 chr19:7973847-7973848;-/T frameshift_variant False TMCO4@p.Q13E 2 0.1880877745 ENSG00000162542 chr1:19780722-19780722;G/C missense_variant False PPP2R1B@p.S280Ffs*10 1 0.206349206 ENSG00000137713 chr11:111755299-111755300;-/A frameshift_variant False PPP2R2B@p.E90Q 1 0.149122807 ENSG00000156475 chr5:146698045-146698045;C/G missense_variant False PSME4@p.L248I 1 0.261363636 ENSG00000068878 chr2:53936781-53936781;G/T missense_variant False PPP2R1B@p.V495I 1 0.081218274 ENSG00000137713 chr11:111743447-111743447;C/T missense_variant False PPP2R1B@p.L52P 1 0.346666667 ENSG00000137713 chr11:111765344-111765344;A/G missense_variant False PPP2R3A@p.D1085H 1 0.125 ENSG00000073711 chr3:136106246-136106246;G/C missense_variant False PPP2R2D@p.R205T 1 0.13559322 ENSG00000175470 chr10:131944104-131944104;G/C missense_variant False PPP2R1B@p.G55E 1 0.300699301 ENSG00000137713 chr11:111765335-111765335;C/T missense_variant False PTBP3@p.F467L 1 0.410958904 ENSG00000119314 chr9:112227460-112227460;A/G missense_variant False PTBP1@p.F47L 1 0.185714286 ENSG00000011304 chr19:804061-804061;C/G missense_variant False PPP2R2B@p.R165P 1 0.1 ENSG00000156475 chr5:146650678-146650678;C/G missense_variant False PTBP2@p.Q456E 1 0.076923077 ENSG00000117569 chr1:96812882-96812882;C/G missense_variant False PPP2R3A@p.D43N 1 0.296610169 ENSG00000073711 chr3:136001625-136001625;G/A missense_variant False PSME4@p.Q1569E 1 0.303030303 ENSG00000068878 chr2:53887283-53887283;G/C missense_variant False PPP1R26@p.R554K 1 0.533333333 ENSG00000196422 chr9:135486171-135486171;G/A missense_variant False PTAR1@p.R355H 1 0.771428571 ENSG00000188647 chr9:69718487-69718487;C/T missense_variant False PSME4@p.G1288D 1 0.47706422 ENSG00000068878 chr2:53895056-53895056;C/T missense_variant False PPP1R21@p.S301L 1 0.523809524 ENSG00000162869 chr2:48471091-48471091;C/T missense_variant False PTBP3@p.M32I 1 0.218390805 ENSG00000119314 chr9:112297863-112297863;C/T missense_variant False PPP1R26@p.H90R 1 0.195121951 ENSG00000196422 chr9:135484779-135484779;A/G missense_variant False PPP1R26@p.A95V 1 0.142857143 ENSG00000196422 chr9:135484794-135484794;C/T missense_variant False PTBP2@p.Q515E 1 0.125 ENSG00000117569 chr1:96813325-96813325;C/G missense_variant False PPP2R2A@p.E190K 1 0.175572519 ENSG00000221914 chr8:26361082-26361082;G/A missense_variant False PTBP2@p.V376L 1 0.401960784 ENSG00000117569 chr1:96806889-96806889;G/T missense_variant False PPP1R21@p.Q102E 1 0.085889571 ENSG00000162869 chr2:48458156-48458156;C/G missense_variant False PPP2R2C@p.E87K 1 0.196202532 ENSG00000074211 chr4:6378482-6378482;C/T missense_variant False PPP1R21@p.P285A 1 0.068181818 ENSG00000162869 chr2:48465598-48465598;C/G missense_variant False PPP2R2B@p.V395G 1 0.215384615 ENSG00000156475 chr5:146590095-146590095;A/C missense_variant False PPP2R2C@p.F365L 1 0.214285714 ENSG00000074211 chr4:6323551-6323551;G/T missense_variant False PSME4@p.N171S 1 0.252688172 ENSG00000068878 chr2:53939989-53939989;T/C missense_variant False PPP2R2C@p.I415M 1 0.37254902 ENSG00000074211 chr4:6323401-6323401;G/C missense_variant False PPP1R26@p.E369K 1 0.454545455 ENSG00000196422 chr9:135485615-135485615;G/A missense_variant False PTBP2@p.N274S 1 0.19047619 ENSG00000117569 chr1:96785147-96785147;A/G missense_variant False PPP2R2B@p.E23K 1 0.06122449 ENSG00000156475 chr5:146878005-146878005;C/T missense_variant False PPP2R2C@p.S228C 1 0.261904762 ENSG00000074211 chr4:6347953-6347953;G/C missense_variant False PPP1R21@p.S623L 1 0.162162162 ENSG00000162869 chr2:48498668-48498668;C/T missense_variant False PTBP2@p.H128D 1 0.321100917 ENSG00000117569 chr1:96770777-96770777;C/G missense_variant False PSME4@p.K1741R 1 0.228310502 ENSG00000068878 chr2:53869417-53869417;T/C missense_variant False PPP2R2D@p.D167G 1 0.5 ENSG00000175470 chr10:131943990-131943990;A/G missense_variant False PTBP2@p.D438H 1 0.566666667 ENSG00000117569 chr1:96812828-96812828;G/C missense_variant False PPP1R21@p.R702T 1 0.310344828 ENSG00000162869 chr2:48510034-48510034;G/C missense_variant False PPP2R2D@p.F421L 1 0.225 ENSG00000175470 chr10:131955864-131955864;C/G missense_variant False PPP1R1C@p.S72N 1 0.10738255 ENSG00000150722 chr2:182063765-182063765;G/A missense_variant False PPP2R2B@p.S423L 1 0.256 ENSG00000156475 chr5:146590011-146590011;G/A missense_variant False PPP2R2A@p.D128V 1 0.25 ENSG00000221914 chr8:26360205-26360205;A/T missense_variant False PTBP1@p.V183M 1 0.416666667 ENSG00000011304 chr19:804643-804643;G/A missense_variant False PPP2R2B@p.F18L 1 0.428571429 ENSG00000156475 chr5:147055685-147055685;G/T missense_variant False PSME4@p.R285K 1 0.35483871 ENSG00000068878 chr2:53934708-53934708;C/T missense_variant False PPP2R1B@p.E31K 1 0.164835165 ENSG00000137713 chr11:111766271-111766271;C/T missense_variant False PPP1R3C@p.C29Y 1 0.292134831 ENSG00000119938 chr10:91630795-91630795;C/T missense_variant False PPP1R3A@p.E974K 1 0.365079365 ENSG00000154415 chr7:113878172-113878172;C/T missense_variant False PPP1R3A@p.E854K 1 0.197115385 ENSG00000154415 chr7:113878532-113878532;C/T missense_variant False PPP1R3A@p.E154Q 1 0.234693878 ENSG00000154415 chr7:113918537-113918537;C/G missense_variant False PPP1R3A@p.D28N 1 0.275862069 ENSG00000154415 chr7:113918915-113918915;C/T missense_variant False PSORS1C1@p.S92C 1 0.169491525 ENSG00000204540 chr6:31139748-31139748;C/G missense_variant False PSORS1C1@p.S121L 1 0.576086957 ENSG00000204540 chr6:31139835-31139835;C/T missense_variant False PPP1R3A@p.D171N 1 0.409090909 ENSG00000154415 chr7:113918486-113918486;C/T missense_variant False PPP1R3C@p.D212H 1 0.195652174 ENSG00000119938 chr10:91630247-91630247;C/G missense_variant False PPP1R3A@p.I477N 1 0.294117647 ENSG00000154415 chr7:113879662-113879662;A/T missense_variant False PSPH@p.L219M 1 0.152439024 ENSG00000146733 chr7:56011785-56011785;G/T missense_variant False PPP1R3C@p.E181Q 1 0.125 ENSG00000119938 chr10:91630340-91630340;C/G missense_variant False PSORS1C1@p.E35K 1 0.132911392 ENSG00000204540 chr6:31138715-31138715;G/A missense_variant False PSRC1@p.E101K 1 0.47826087 ENSG00000134222 chr1:109281837-109281837;C/T missense_variant False PPP1R3D@p.A227T 1 0.25862069 ENSG00000132825 chr20:59939253-59939253;C/T missense_variant False PPP1R3D@p.R222P 1 0.444444444 ENSG00000132825 chr20:59939267-59939267;C/G missense_variant False PPP1R36@p.H417Y 1 0.080808081 ENSG00000165807 chr14:64589318-64589318;C/T missense_variant False PPP1R3B@p.F82L 1 0.432835821 ENSG00000173281 chr8:9141406-9141406;G/T missense_variant False PPP1R3B@p.E106Q 1 0.346938776 ENSG00000173281 chr8:9141336-9141336;C/G missense_variant False PPP1R8@p.R82T 1 0.378787879 ENSG00000117751 chr1:27838826-27838826;G/C missense_variant False PSPC1@p.E341Q 1 0.201550388 ENSG00000121390 chr13:19741596-19741596;C/G missense_variant False PSPC1@p.M391I 1 0.287958115 ENSG00000121390 chr13:19709585-19709585;C/T missense_variant False PPP1R3A@p.P404T 1 0.439716312 ENSG00000154415 chr7:113879882-113879882;G/T missense_variant False PPP1R3A@p.P454L 1 0.127659574 ENSG00000154415 chr7:113879731-113879731;G/A missense_variant False PSPC1@p.R20C 1 0.232142857 ENSG00000121390 chr13:19782700-19782700;G/A missense_variant False PPP1R3A@p.Q856E 1 0.186335404 ENSG00000154415 chr7:113878526-113878526;G/C missense_variant False PPP1R3A@p.R487K 1 0.053571429 ENSG00000154415 chr7:113879632-113879632;C/T missense_variant False PSPC1@p.R210Q 1 0.157303371 ENSG00000121390 chr13:19772287-19772287;C/T missense_variant False PPP1R3A@p.S1049F 1 0.17699115 ENSG00000154415 chr7:113877946-113877946;G/A missense_variant False PPP1R3B@p.D87H 1 0.354545455 ENSG00000173281 chr8:9141393-9141393;C/G missense_variant False PSPH@p.C18F 1 0.15 ENSG00000146733 chr7:56021160-56021160;C/A missense_variant False PSPH@p.D183N 1 0.454545455 ENSG00000146733 chr7:56015046-56015046;C/T missense_variant False PPP1R3A@p.S745P 1 0.197530864 ENSG00000154415 chr7:113878859-113878859;A/G missense_variant False PPP1R3A@p.T673P 1 0.45045045 ENSG00000154415 chr7:113879075-113879075;T/G missense_variant False PPP1R3A@p.V258G 1 0.135338346 ENSG00000154415 chr7:113918224-113918224;A/C missense_variant False PSPH@p.E154K 1 0.14 ENSG00000146733 chr7:56015133-56015133;C/T missense_variant False PSPH@p.K172N 1 0.214285714 ENSG00000146733 chr7:56015077-56015077;C/G missense_variant False PPP1R8@p.D148N 1 0.11627907 ENSG00000117751 chr1:27841184-27841184;G/A missense_variant False PPP1R9A@p.E693D 1 0.234042553 ENSG00000158528 chr7:95247505-95247505;G/C missense_variant False PPP1R2@p.R144S 1 0.456896552 ENSG00000184203 chr3:195519157-195519157;C/A missense_variant False PPP2CB@p.T78A 1 0.352112676 ENSG00000104695 chr8:30799626-30799626;T/C missense_variant False PPP1R35@p.R191G 1 0.285714286 ENSG00000160813 chr7:100435648-100435648;G/C missense_variant False PTAR1@p.E283del 1 0.185185185 ENSG00000188647 chr9:69723424-69723426;TTC/- inframe_deletion False PSME4@p.R1297K 1 0.255506608 ENSG00000068878 chr2:53895029-53895029;C/T missense_variant False PPP1R35@p.Q29E 1 0.3 ENSG00000160813 chr7:100436290-100436290;G/C missense_variant False PTAR1@p.P137S 1 0.455696203 ENSG00000188647 chr9:69734169-69734169;G/A missense_variant False PPP2CB@p.E67K 1 0.208695652 ENSG00000104695 chr8:30799659-30799659;C/T missense_variant False PPP1R35@p.E239K 1 0.488888889 ENSG00000160813 chr7:100435407-100435407;C/T missense_variant False PSME4@p.Q391E 1 0.283018868 ENSG00000068878 chr2:53931980-53931980;G/C missense_variant False PPP2CA@p.R206H 1 0.75 ENSG00000113575 chr5:134200456-134200456;C/T missense_variant False PPP2R1A@p.A185_S187del 1 0.253968254 ENSG00000105568 chr19:52212733-52212741;CCGCAGCCT/- inframe_deletion True PPP2R1A@p.D282H 1 0.114035088 ENSG00000105568 chr19:52215815-52215815;G/C missense_variant True PPP2R1A@p.E50Q 1 0.15625 ENSG00000105568 chr19:52202013-52202013;G/C missense_variant True PPP2R1A@p.S314L 1 0.441176471 ENSG00000105568 chr19:52216022-52216022;C/T missense_variant True PPP1R32@p.L67P 1 0.102564103 ENSG00000162148 chr11:61482401-61482401;T/C missense_variant False PPP1R32@p.E137Q 1 0.163265306 ENSG00000162148 chr11:61484715-61484715;G/C missense_variant False PPP2R1B@p.D20H 1 0.134831461 ENSG00000137713 chr11:111766304-111766304;C/G missense_variant False PTAFR@p.F204L 1 0.516129032 ENSG00000169403 chr1:28150410-28150410;G/T missense_variant False PSME4@p.S377F 1 0.130434783 ENSG00000068878 chr2:53932021-53932021;G/A missense_variant False PPP1R36@p.H417N 1 0.147826087 ENSG00000165807 chr14:64589318-64589318;C/A missense_variant False PPP1R36@p.H378Y 1 0.141176471 ENSG00000165807 chr14:64589201-64589201;C/T missense_variant False PSMG1@p.I266V 1 0.151260504 ENSG00000183527 chr21:39175661-39175661;T/C missense_variant False PSTK@p.G206E 1 0.212121212 ENSG00000179988 chr10:122983380-122983380;G/A missense_variant False PPP1R9A@p.K790N 1 0.254237288 ENSG00000158528 chr7:95251801-95251801;G/C missense_variant False PSTK@p.L64F 1 0.5 ENSG00000179988 chr10:122980669-122980669;C/T missense_variant False PSMF1@p.S51L 1 0.276923077 ENSG00000125818 chr20:1125520-1125520;C/T missense_variant False PSMF1@p.D109N 1 0.370588235 ENSG00000125818 chr20:1127468-1127468;G/A missense_variant False PPP1R9A@p.L1030V 1 0.192982456 ENSG00000158528 chr7:95290094-95290094;C/G missense_variant False PPP1R36@p.E194Q 1 0.25 ENSG00000165807 chr14:64574501-64574501;G/C missense_variant False PPP2CA@p.E109K 1 0.368421053 ENSG00000113575 chr5:134202009-134202009;C/T missense_variant False PSME4@p.V1747E 1 0.100628931 ENSG00000068878 chr2:53869399-53869399;A/T missense_variant False PSME4@p.T1708A 1 0.151898734 ENSG00000068878 chr2:53869517-53869517;T/C missense_variant False PPP1R9A@p.M1032I 1 0.157142857 ENSG00000158528 chr7:95290102-95290102;G/A missense_variant False PSTPIP2@p.G302R 1 0.346938776 ENSG00000152229 chr18:45991918-45991918;C/T missense_variant False PPP1R36@p.E185V 1 0.133333333 ENSG00000165807 chr14:64574475-64574475;A/T missense_variant False PPP1R9A@p.R409K 1 0.531914894 ENSG00000158528 chr7:94911339-94911339;G/A missense_variant False PPP1R36@p.A87V 1 0.558823529 ENSG00000165807 chr14:64564828-64564828;C/T missense_variant False PPP1R3B@p.E45K 1 0.310344828 ENSG00000173281 chr8:9141519-9141519;C/T missense_variant False PRRC2B@p.E544K 1 0.135135135 ENSG00000288701 chr9:131464988-131464988;G/A missense_variant False PPP2R3A@p.E126Q 1 0.171428571 ENSG00000073711 chr3:136001874-136001874;G/C missense_variant False PSMC6@p.A355G 1 0.055555556 ENSG00000100519 chr14:52724007-52724007;C/G missense_variant False PPP6R2@p.Q91H 1 0.15720524 ENSG00000100239 chr22:50406734-50406734;G/C missense_variant False PPP6R3@p.D560N 1 0.194174757 ENSG00000110075 chr11:68587972-68587972;G/A missense_variant False PPP6R3@p.E663K 1 0.5 ENSG00000110075 chr11:68596167-68596167;G/A missense_variant False PPP6R3@p.I289Dfs*30 1 0.317880795 ENSG00000110075 chr11:68564319-68564320;-/A frameshift_variant False PPRC1@p.D1638N 1 0.210884354 ENSG00000148840 chr10:102149946-102149946;G/A missense_variant False PPRC1@p.D184N 1 0.535211268 ENSG00000148840 chr10:102138939-102138939;G/A missense_variant False PPRC1@p.D638N 1 0.2 ENSG00000148840 chr10:102140420-102140420;G/A missense_variant False PPRC1@p.E347K 1 0.229411765 ENSG00000148840 chr10:102139547-102139547;G/A missense_variant False PPRC1@p.E399Q 1 0.479041916 ENSG00000148840 chr10:102139703-102139703;G/C missense_variant False PSMC6@p.D140N 1 0.452380952 ENSG00000100519 chr14:52711459-52711459;G/A missense_variant False PPRC1@p.K1624N 1 0.27826087 ENSG00000148840 chr10:102149310-102149310;G/C missense_variant False PPRC1@p.P1461Hfs*79 1 0.090909091 ENSG00000148840 chr10:102147368-102147368;C/- frameshift_variant False PSMC5@p.S71F 1 0.472972973 ENSG00000087191 chr17:63829897-63829897;C/T missense_variant False PPRC1@p.S369C 1 0.194444444 ENSG00000148840 chr10:102139614-102139614;C/G missense_variant False PPRC1@p.R1320P 1 0.203389831 ENSG00000148840 chr10:102146951-102146951;G/C missense_variant False PSMC5@p.M336I 1 0.201612903 ENSG00000087191 chr17:63831544-63831544;G/A missense_variant False PSMC5@p.E160D 1 0.261904762 ENSG00000087191 chr17:63830429-63830429;G/C missense_variant False PSMC4@p.K70N 1 0.279069767 ENSG00000013275 chr19:39972443-39972443;G/C missense_variant False PPRC1@p.R1531T 1 0.271676301 ENSG00000148840 chr10:102148669-102148669;G/C missense_variant False PSMC4@p.K273Q 1 0.208333333 ENSG00000013275 chr19:39979960-39979960;A/C missense_variant False PSMC3IP@p.E142Q 1 0.033639144 ENSG00000131470 chr17:42573537-42573537;C/G missense_variant False PPRC1@p.R1619Q 1 0.138461538 ENSG00000148840 chr10:102149294-102149294;G/A missense_variant False PPRC1@p.S1415L 1 0.683760684 ENSG00000148840 chr10:102147236-102147236;C/T missense_variant False PSMC3@p.T163M 1 0.481012658 ENSG00000165916 chr11:47424149-47424149;G/A missense_variant False PPRC1@p.S1450L 1 0.62295082 ENSG00000148840 chr10:102147341-102147341;C/T missense_variant False PPRC1@p.S152L 1 0.185185185 ENSG00000148840 chr10:102138731-102138731;C/T missense_variant False PPP6R2@p.Q228K 1 0.350993377 ENSG00000100239 chr22:50418930-50418930;C/A missense_variant False PPP6R2@p.E781K 1 0.25862069 ENSG00000100239 chr22:50440016-50440016;G/A missense_variant False PPP6R1@p.P51L 1 0.406779661 ENSG00000105063 chr19:55246952-55246952;G/A missense_variant False PSMC6@p.E128Gfs*7 1 0.257142857 ENSG00000100519 chr14:52711419-52711420;GA/- frameshift_variant False PPP4R3B@p.E667K 1 0.439393939 ENSG00000275052 chr2:55564978-55564978;C/T missense_variant False PPP4R3B@p.Q688H 1 0.163265306 ENSG00000275052 chr2:55564913-55564913;C/G missense_variant False PSMD12@p.E85D 1 0.256410256 ENSG00000197170 chr17:67357345-67357345;T/G missense_variant False PPP4R4@p.I771S 1 0.0703125 ENSG00000119698 chr14:94265821-94265821;T/G missense_variant False PPP4R4@p.K642N 1 0.225806452 ENSG00000119698 chr14:94256520-94256520;G/T missense_variant False PPP4R4@p.R772G 1 0.088235294 ENSG00000119698 chr14:94265823-94265823;C/G missense_variant False PPP4R4@p.S634C 1 0.333333333 ENSG00000119698 chr14:94256495-94256495;C/G missense_variant False PPP4R4@p.T89M 1 0.257575758 ENSG00000119698 chr14:94208538-94208538;C/T missense_variant False PSMD11@p.S192C 1 0.2 ENSG00000108671 chr17:32469125-32469125;C/G missense_variant False PPP4R4@p.Y340C 1 0.386363636 ENSG00000119698 chr14:94241830-94241830;A/G missense_variant False PSMD11@p.H375Y 1 0.378787879 ENSG00000108671 chr17:32480194-32480194;C/T missense_variant False PSMC6@p.R92T 1 0.172413793 ENSG00000100519 chr14:52708791-52708791;G/C missense_variant False PPP5C@p.A81V 1 0.6 ENSG00000011485 chr19:46353868-46353868;C/T missense_variant False PSMC6@p.Q65H 1 0.083333333 ENSG00000100519 chr14:52708376-52708376;G/C missense_variant False PPP5C@p.I312M 1 0.142857143 ENSG00000011485 chr19:46387124-46387124;C/G missense_variant False PPP5C@p.N450S 1 0.087719298 ENSG00000011485 chr19:46388725-46388725;A/G missense_variant False PPP5C@p.R441H 1 0.240343348 ENSG00000011485 chr19:46388698-46388698;G/A missense_variant False PPP5C@p.T477S 1 0.48 ENSG00000011485 chr19:46390124-46390124;A/T missense_variant False PPP6C@p.L19V 1 0.36 ENSG00000119414 chr9:125189664-125189664;G/C missense_variant False PPP6C@p.R181W 1 0.127659574 ENSG00000119414 chr9:125153661-125153661;G/A missense_variant False PPP6C@p.R210Q 1 0.113636364 ENSG00000119414 chr9:125153573-125153573;C/T missense_variant False PSMC6@p.G188R 1 0.353658537 ENSG00000100519 chr14:52713959-52713959;G/A missense_variant False PPP6R1@p.A59T 1 0.5 ENSG00000105063 chr19:55246929-55246929;C/T missense_variant False PPP6R1@p.L361I 1 0.377777778 ENSG00000105063 chr19:55241319-55241319;G/T missense_variant False PPP6R1@p.P25S 1 0.05982906 ENSG00000105063 chr19:55247031-55247031;G/A missense_variant False PSMC3@p.L60F 1 0.145454545 ENSG00000165916 chr11:47425226-47425226;C/G missense_variant False PPRC1@p.S67F 1 0.468085106 ENSG00000148840 chr10:102137896-102137896;C/T missense_variant False PPP2R3A@p.E183Q 1 0.272727273 ENSG00000073711 chr3:136002045-136002045;G/C missense_variant False PRAM1@p.Q258E 1 0.106382979 ENSG00000133246 chr19:8499036-8499036;G/C missense_variant False PRAG1@p.S495C 1 0.314285714 ENSG00000275342 chr8:8376925-8376925;G/C missense_variant False PSMC1@p.E302Q 1 0.134615385 ENSG00000100764 chr14:90269419-90269419;G/C missense_variant False PRAM1@p.A643V 1 0.470588235 ENSG00000133246 chr19:8490488-8490488;G/A missense_variant False PSMB9@p.M183I 1 0.176666667 ENSG00000240065 chr6:32859421-32859421;G/C missense_variant False PRAM1@p.D511N 1 0.185185185 ENSG00000133246 chr19:8497809-8497809;C/T missense_variant False PRAM1@p.E248K 1 0.368421053 ENSG00000133246 chr19:8499066-8499066;C/T missense_variant False PRAM1@p.E28Q 1 0.25 ENSG00000133246 chr19:8499726-8499726;C/G missense_variant False PSMB9@p.I208V 1 0.125 ENSG00000240065 chr6:32859494-32859494;A/G missense_variant False PSMB8@p.R216W 1 0.223602484 ENSG00000204264 chr6:32841627-32841627;G/A missense_variant False PRAM1@p.K129N 1 0.186046512 ENSG00000133246 chr19:8499421-8499421;C/A missense_variant False PRAM1@p.P552T 1 0.1 ENSG00000133246 chr19:8490976-8490976;G/T missense_variant False PSMB8@p.L219V 1 0.393442623 ENSG00000204264 chr6:32841618-32841618;G/C missense_variant False PSMB8@p.K153N 1 0.5 ENSG00000204264 chr6:32842212-32842212;C/A missense_variant False PPRC1@p.S841L 1 0.4 ENSG00000148840 chr10:102141030-102141030;C/T missense_variant False PRAM1@p.Q26E 1 0.142857143 ENSG00000133246 chr19:8499732-8499732;G/C missense_variant False PRAM1@p.R470Q 1 0.454545455 ENSG00000133246 chr19:8498399-8498399;C/T missense_variant False PRAME@p.A217P 1 0.150537634 ENSG00000185686 chr22:22550030-22550030;C/G missense_variant False PRAME@p.P486L 1 0.2 ENSG00000185686 chr22:22548140-22548140;G/A missense_variant False PRAMEF10@p.L419P 1 0.214285714 ENSG00000187545 chr1:12893085-12893085;A/G missense_variant False PRAMEF10@p.M391I 1 0.227272727 ENSG00000187545 chr1:12893168-12893168;C/T missense_variant False PRAMEF10@p.P60S 1 0.5 ENSG00000187545 chr1:12895670-12895670;G/A missense_variant False PRAMEF12@p.A133T 1 0.243902439 ENSG00000116726 chr1:12775652-12775652;G/A missense_variant False PRAMEF12@p.A58V 1 0.1875 ENSG00000116726 chr1:12775040-12775040;C/T missense_variant False PRAMEF12@p.D86H 1 0.103448276 ENSG00000116726 chr1:12775123-12775123;G/C missense_variant False PSMB7@p.Q134E 1 0.080645161 ENSG00000136930 chr9:124405428-124405428;G/C missense_variant False PSMB7@p.K195R 1 0.111111111 ENSG00000136930 chr9:124356902-124356902;T/C missense_variant False PSMC2@p.E342K 1 0.216666667 ENSG00000161057 chr7:103367592-103367592;G/A missense_variant False PSMC2@p.H358Y 1 0.2 ENSG00000161057 chr7:103367737-103367737;C/T missense_variant False PSMC2@p.Q148E 1 0.915254237 ENSG00000161057 chr7:103362705-103362705;C/G missense_variant False PSMC2@p.Q88H 1 0.578947368 ENSG00000161057 chr7:103355767-103355767;G/C missense_variant False PPT1@p.P16L 1 0.1640625 ENSG00000131238 chr1:40097192-40097192;G/A missense_variant False PSMC3@p.K233N 1 0.040650407 ENSG00000165916 chr11:47422866-47422866;C/G missense_variant False PPT2@p.F238L 1 0.229651163 ENSG00000258388 chr6:32162571-32162571;C/G missense_variant False PPT2@p.I40M 1 0.366336634 ENSG00000258388 chr6:32154714-32154714;C/G missense_variant False PSMC3@p.G262A 1 0.123287671 ENSG00000165916 chr11:47422673-47422673;C/G missense_variant False PPT2@p.S111L 1 0.4375 ENSG00000258388 chr6:32155178-32155178;C/T missense_variant False PSMC3@p.E183K 1 0.084249084 ENSG00000165916 chr11:47424090-47424090;C/T missense_variant False PPTC7@p.D206H 1 0.38 ENSG00000196850 chr12:110539932-110539932;C/G missense_variant False PSMC2@p.V250I 1 0.261904762 ENSG00000161057 chr7:103364299-103364299;G/A missense_variant False PPTC7@p.D290H 1 0.203539823 ENSG00000196850 chr12:110537084-110537084;C/G missense_variant False PPTC7@p.I141V 1 0.170731707 ENSG00000196850 chr12:110546061-110546061;T/C missense_variant False PPWD1@p.D75H 1 0.24 ENSG00000113593 chr5:65567539-65567539;G/C missense_variant False PPWD1@p.E45D 1 0.214285714 ENSG00000113593 chr5:65563445-65563445;G/C missense_variant False PPWD1@p.P233L 1 0.139130435 ENSG00000113593 chr5:65572015-65572015;C/T missense_variant False PPWD1@p.S424C 1 0.150943396 ENSG00000113593 chr5:65579534-65579534;C/G missense_variant False PQBP1@p.V84L 1 0.409836066 ENSG00000102103 chrX:48902000-48902000;G/C missense_variant False PSMC2@p.R369K 1 0.243902439 ENSG00000161057 chr7:103367771-103367771;G/A missense_variant False PSMC2@p.R312T 1 0.2 ENSG00000161057 chr7:103367503-103367503;G/C missense_variant False PRADC1@p.P183L 1 0.388888889 ENSG00000135617 chr2:73228473-73228473;G/A missense_variant False PRAG1@p.D732H 1 0.372340426 ENSG00000275342 chr8:8339604-8339604;C/G missense_variant False PRAG1@p.E1116K 1 0.264984227 ENSG00000275342 chr8:8319029-8319029;C/T missense_variant False PRAG1@p.E709K 1 0.208333333 ENSG00000275342 chr8:8376284-8376284;C/T missense_variant False PRAG1@p.E734Q 1 0.46969697 ENSG00000275342 chr8:8339598-8339598;C/G missense_variant False PRAG1@p.G932R 1 0.242424242 ENSG00000275342 chr8:8327988-8327988;C/T missense_variant False PRAG1@p.N727S 1 0.113636364 ENSG00000275342 chr8:8339618-8339618;T/C missense_variant False PSMD12@p.R316C 1 0.571428571 ENSG00000197170 chr17:67344743-67344743;G/A missense_variant False PPP4R3B@p.E301Q 1 0.35 ENSG00000275052 chr2:55598436-55598436;C/G missense_variant False PSMD12@p.S394L 1 0.3125 ENSG00000197170 chr17:67341033-67341033;G/A missense_variant False PSMD4@p.R237W 1 0.35 ENSG00000159352 chr1:151266058-151266058;C/T missense_variant False PSMD7@p.V260E 1 0.340425532 ENSG00000103035 chr16:74305537-74305537;T/A missense_variant False PPP2R5B@p.L19Afs*71 1 0.141025641 ENSG00000068971 chr11:64925785-64925786;-/G frameshift_variant False PPP2R5B@p.R174H 1 0.096774194 ENSG00000068971 chr11:64928088-64928088;G/A missense_variant False PSMD7@p.D207G 1 0.652173913 ENSG00000103035 chr16:74305378-74305378;A/G missense_variant False PSMD6@p.R159Q 1 0.494117647 ENSG00000163636 chr3:64019317-64019317;C/T missense_variant False PSMD6@p.L144F 1 0.09375 ENSG00000163636 chr3:64019363-64019363;G/A missense_variant False PSMD6@p.I19M 1 0.419354839 ENSG00000163636 chr3:64023363-64023363;G/C missense_variant False PPP2R5B@p.T327A 1 0.125 ENSG00000068971 chr11:64931592-64931592;A/G missense_variant False PSMD5@p.M311V 1 0.615942029 ENSG00000095261 chr9:120824569-120824569;T/C missense_variant False PSMD5@p.E164K 1 0.161616162 ENSG00000095261 chr9:120831402-120831402;C/T missense_variant False PPP2R5C@p.D119N 1 0.228571429 ENSG00000078304 chr14:101882221-101882221;G/A missense_variant False PPP2R5C@p.D175H 1 0.442028986 ENSG00000078304 chr14:101883456-101883456;G/C missense_variant False PPP2R5C@p.D180N 1 0.261904762 ENSG00000078304 chr14:101883471-101883471;G/A missense_variant False PPP4R3B@p.D720V 1 0.311111111 ENSG00000275052 chr2:55564414-55564414;T/A missense_variant False PPP2R5C@p.E353Hfs*6 1 0.194444444 ENSG00000078304 chr14:101906433-101906440;ATGAATAC/- frameshift_variant False PPP2R5C@p.E466Q 1 0.115384615 ENSG00000078304 chr14:101917900-101917900;G/C missense_variant False PTBP3@p.P298R 1 0.357142857 ENSG00000119314 chr9:112234891-112234891;G/C missense_variant False PPP2R5C@p.K379N 1 0.545454545 ENSG00000078304 chr14:101906515-101906515;G/C missense_variant False PPP2R5D@p.E197K 1 0.329059829 ENSG00000112640 chr6:43007262-43007262;G/A missense_variant False PPP2R5D@p.E504Q 1 0.365079365 ENSG00000112640 chr6:43010692-43010692;G/C missense_variant False PPP2R5D@p.I119M 1 0.085987261 ENSG00000112640 chr6:43006945-43006945;C/G missense_variant False PPP2R5D@p.R452M 1 0.325842697 ENSG00000112640 chr6:43009425-43009425;G/T missense_variant False PPP2R5D@p.R452W 1 0.325581395 ENSG00000112640 chr6:43009424-43009424;A/T missense_variant False PPP2R5D@p.T291M 1 0.367924528 ENSG00000112640 chr6:43008215-43008215;C/T missense_variant False PPP2R5E@p.H150Q 1 0.192771084 ENSG00000154001 chr14:63421999-63421999;G/C missense_variant False PSMD4@p.P187L 1 0.443548387 ENSG00000159352 chr1:151265515-151265515;C/T missense_variant False PPP2R5B@p.K187N 1 0.162162162 ENSG00000068971 chr11:64928128-64928128;G/C missense_variant False PPP2R5B@p.E307Q 1 0.291666667 ENSG00000068971 chr11:64931463-64931463;G/C missense_variant False PPP2R5A@p.F353L 1 0.333333333 ENSG00000066027 chr1:212357030-212357030;C/G missense_variant False PPP2R5A@p.F166L 1 0.244897959 ENSG00000066027 chr1:212342205-212342205;C/G missense_variant False PPP2R3A@p.E773D 1 0.352941176 ENSG00000073711 chr3:136040915-136040915;G/T missense_variant False PPP2R3A@p.I369T 1 0.333333333 ENSG00000073711 chr3:136002604-136002604;T/C missense_variant False PSME4@p.E438G 1 0.346666667 ENSG00000068878 chr2:53931838-53931838;T/C missense_variant False PPP2R3A@p.K471N 1 0.073170732 ENSG00000073711 chr3:136002911-136002911;G/C missense_variant False PSME4@p.E170K 1 0.503937008 ENSG00000068878 chr2:53939993-53939993;C/T missense_variant False PPP2R3A@p.K486E 1 0.206896552 ENSG00000073711 chr3:136002954-136002954;A/G missense_variant False PSME4@p.D1196H 1 0.320895522 ENSG00000068878 chr2:53897890-53897890;C/G missense_variant False PPP2R3A@p.L480V 1 0.154929577 ENSG00000073711 chr3:136002936-136002936;C/G missense_variant False PPP2R3A@p.N375I 1 0.268817204 ENSG00000073711 chr3:136002622-136002622;A/T missense_variant False PSME3@p.G78A 1 0.485148515 ENSG00000131467 chr17:42834866-42834866;G/C missense_variant False PSME3@p.D177H 1 0.367924528 ENSG00000131467 chr17:42838999-42838999;G/C missense_variant False PPP2R3A@p.S155L 1 0.137254902 ENSG00000073711 chr3:136001962-136001962;C/T missense_variant False PSME1@p.R77W 1 0.447619048 ENSG00000092010 chr14:24137414-24137414;C/T missense_variant False PSME1@p.R198W 1 0.195652174 ENSG00000092010 chr14:24138483-24138483;C/T missense_variant False PSMD9@p.V57M 1 0.194444444 ENSG00000256950 chr12:121894769-121894769;G/A missense_variant False PPP2R3A@p.Y1001H 1 0.438596491 ENSG00000073711 chr3:136102080-136102080;T/C missense_variant False PSMD9@p.R194C 1 0.25 ENSG00000256950 chr12:121915880-121915880;C/T missense_variant False PPP2R3B@p.D501Y 1 0.782608696 ENSG00000292327 chrX:338680-338680;C/A missense_variant False PPP2R3C@p.D426N 1 0.389830508 ENSG00000092020 chr14:35085676-35085676;C/T missense_variant False PPP2R3C@p.E263D 1 0.283018868 ENSG00000092020 chr14:35096607-35096607;C/G missense_variant False PPP2R3C@p.E77K 1 0.366666667 ENSG00000092020 chr14:35110587-35110587;C/T missense_variant False PSMD9@p.L203F 1 0.175438596 ENSG00000256950 chr12:121915907-121915907;C/T missense_variant False PSMD8@p.K63N 1 0.333333333 ENSG00000099341 chr19:38374790-38374790;G/C missense_variant False PPP2R3C@p.H380Y 1 0.347826087 ENSG00000092020 chr14:35087986-35087986;G/A missense_variant False PPP2R5A@p.E450K 1 0.608695652 ENSG00000066027 chr1:212360657-212360657;G/A missense_variant False PPP2R5E@p.L127F 1 0.117647059 ENSG00000154001 chr14:63422070-63422070;G/A missense_variant False PSMD4@p.E283Q 1 0.114035088 ENSG00000159352 chr1:151266391-151266391;G/C missense_variant False PPP2R5E@p.S380C 1 0.264705882 ENSG00000154001 chr14:63384507-63384507;G/C missense_variant False PSMD2@p.S714F 1 0.109090909 ENSG00000175166 chr3:184307463-184307463;C/T missense_variant False PSMD2@p.L759V 1 0.166666667 ENSG00000175166 chr3:184307685-184307685;C/G missense_variant False PSMD2@p.H782R 1 0.118811881 ENSG00000175166 chr3:184307936-184307936;A/G missense_variant False PPP4C@p.W206L 1 0.127819549 ENSG00000149923 chr16:30084678-30084678;G/T missense_variant False PPP4R1@p.E274_S280del 1 0.121212121 ENSG00000154845 chr18:9583196-9583216;GAAACCGCCATGAAGCATTCA/- inframe_deletion False PPP4R1@p.K937N 1 0.126865672 ENSG00000154845 chr18:9547831-9547831;T/G missense_variant False PPP4R1@p.P202A 1 0.473684211 ENSG00000154845 chr18:9584810-9584810;G/C missense_variant False PPP4R1@p.R754K 1 0.441860465 ENSG00000154845 chr18:9553352-9553352;C/T missense_variant False PSMD2@p.E212K 1 0.178571429 ENSG00000175166 chr3:184302001-184302001;G/A missense_variant False PPP4R1@p.R882Q 1 0.181818182 ENSG00000154845 chr18:9549241-9549241;C/T missense_variant False PPP4R1@p.R90T 1 0.5 ENSG00000154845 chr18:9593794-9593794;C/G missense_variant False PPP4R1@p.S632F 1 0.047945205 ENSG00000154845 chr18:9559552-9559552;G/A missense_variant False PSMD2@p.D222N 1 0.1875 ENSG00000175166 chr3:184302031-184302031;G/A missense_variant False PSMD1@p.K498N 1 0.80952381 ENSG00000173692 chr2:231082963-231082963;A/T missense_variant False PSMD1@p.E95K 1 0.827586207 ENSG00000173692 chr2:231062654-231062654;G/A missense_variant False PPP4R1@p.Y742Wfs*2 1 0.089285714 ENSG00000154845 chr18:9553370-9553388;AAAAACTCCTGAAGTTGAT/- frameshift_variant False PPP4R2@p.D110N 1 0.105263158 ENSG00000163605 chr3:73059077-73059077;G/A missense_variant False PPP4R3A@p.E187K 1 0.072463768 ENSG00000100796 chr14:91481932-91481932;C/T missense_variant False PPP4R3A@p.E679Q 1 0.475 ENSG00000100796 chr14:91462178-91462178;C/G missense_variant False PPP4R3A@p.E687K 1 0.258064516 ENSG00000100796 chr14:91462154-91462154;C/T missense_variant False PPP4R3A@p.K528N 1 0.228915663 ENSG00000100796 chr14:91470913-91470913;C/G missense_variant False PPP4R3B@p.A653G 1 0.5 ENSG00000275052 chr2:55565019-55565019;G/C missense_variant False PSMD1@p.D495N 1 0.378787879 ENSG00000173692 chr2:231082952-231082952;G/A missense_variant False PPP4R3B@p.D3H 1 0.473684211 ENSG00000275052 chr2:55617279-55617279;C/G missense_variant False PPP4R3B@p.D485N 1 0.408450704 ENSG00000275052 chr2:55579694-55579694;C/T missense_variant False PSMD13@p.V311E 1 0.036363636 ENSG00000185627 chr11:251833-251833;T/A missense_variant False PSMD2@p.R828Q 1 0.076271186 ENSG00000175166 chr3:184308506-184308506;G/A missense_variant False PPP4C@p.I285M 1 0.353535354 ENSG00000149923 chr16:30084993-30084993;C/G missense_variant False PPP2R5E@p.S3L 1 0.339622642 ENSG00000154001 chr14:63539678-63539678;G/A missense_variant False PPP4C@p.D189N 1 0.232142857 ENSG00000149923 chr16:30083742-30083742;G/A missense_variant False PPP3CA@p.E220Q 1 0.113207547 ENSG00000138814 chr4:101093900-101093900;C/G missense_variant False PPP3CA@p.E3K 1 0.255319149 ENSG00000138814 chr4:101346790-101346790;C/T missense_variant False PSMD3@p.S481F 1 0.112956811 ENSG00000108344 chr17:39996304-39996304;C/T missense_variant False PPP3CA@p.K466E 1 0.271186441 ENSG00000138814 chr4:101026035-101026035;T/C missense_variant False PPP3CA@p.M329V 1 0.5 ENSG00000138814 chr4:101063328-101063328;T/C missense_variant False PPP3CA@p.P22T 1 0.206349206 ENSG00000138814 chr4:101196111-101196111;G/T missense_variant False PPP3CA@p.S492C 1 0.446808511 ENSG00000138814 chr4:101025956-101025956;G/C missense_variant False PPP3CB@p.E385V 1 0.231884058 ENSG00000107758 chr10:73454444-73454444;T/A missense_variant False PPP3CB@p.E391K 1 0.148648649 ENSG00000107758 chr10:73454427-73454427;C/T missense_variant False PSMD3@p.S481C 1 0.170212766 ENSG00000108344 chr17:39996304-39996304;C/G missense_variant False PSMD3@p.R128Q 1 0.09 ENSG00000108344 chr17:39984456-39984456;G/A missense_variant False PSMD3@p.I75M 1 0.15 ENSG00000108344 chr17:39984298-39984298;C/G missense_variant False PSMD3@p.E284Q 1 0.131578947 ENSG00000108344 chr17:39989902-39989902;G/C missense_variant False PPP3CB@p.E91Q 1 0.242105263 ENSG00000107758 chr10:73479332-73479332;C/G missense_variant False PPP3CB@p.L378V 1 0.078313253 ENSG00000107758 chr10:73454466-73454466;G/C missense_variant False PPP3CC@p.D309H 1 0.24 ENSG00000120910 chr8:22522731-22522731;G/C missense_variant False PPP3CC@p.E33Q 1 0.34375 ENSG00000120910 chr8:22475001-22475001;G/C missense_variant False PPP3CC@p.G101V 1 0.12 ENSG00000120910 chr8:22475554-22475554;G/T missense_variant False PSMD3@p.E219Q 1 0.171875 ENSG00000108344 chr17:39988788-39988788;G/C missense_variant False PPP3CC@p.M74I 1 0.105263158 ENSG00000120910 chr8:22475126-22475126;G/C missense_variant False PSMD2@p.Y906C 1 0.254901961 ENSG00000175166 chr3:184308880-184308880;A/G missense_variant False PPP3CC@p.W130C 1 0.368421053 ENSG00000120910 chr8:22498018-22498018;G/T missense_variant False PPP3R2@p.E161K 1 0.117021277 ENSG00000188386 chr9:101594441-101594441;C/T missense_variant False PPP3R2@p.G68A 1 0.138613861 ENSG00000188386 chr9:101594719-101594719;C/G missense_variant False PPP4C@p.D148H 1 0.45 ENSG00000149923 chr16:30083532-30083532;G/C missense_variant False PPP1R1B@p.S52C 1 0.191176471 ENSG00000131771 chr17:39629552-39629552;C/G missense_variant False PPP1R13B@p.V400L 1 0.1 ENSG00000088808 chr14:103742776-103742776;C/A missense_variant False PPP1R1B@p.E98D 1 0.145833333 ENSG00000131771 chr17:39633935-39633935;G/C missense_variant False PPFIA3@p.E48Q 1 0.532467532 ENSG00000177380 chr19:49128015-49128015;G/C missense_variant False PTGES3L-AARSD1@p.E382Q 1 0.114457831 ENSG00000108825 chr17:42955885-42955885;C/G missense_variant False PTGES3L-AARSD1@p.E360K 1 0.411214953 ENSG00000108825 chr17:42955951-42955951;C/T missense_variant False PPFIA3@p.E725Q 1 0.230769231 ENSG00000177380 chr19:49139764-49139764;G/C missense_variant False PTGES3L-AARSD1@p.D197N 1 0.475409836 ENSG00000108825 chr17:42961327-42961327;C/T missense_variant False PPFIA3@p.K760N 1 0.047244094 ENSG00000177380 chr19:49140000-49140000;G/C missense_variant False PPFIA3@p.R253Q 1 0.428571429 ENSG00000177380 chr19:49130478-49130478;G/A missense_variant False PPFIA3@p.R400W 1 0.472222222 ENSG00000177380 chr19:49133832-49133832;C/T missense_variant False PPFIA3@p.R59W 1 0.451612903 ENSG00000177380 chr19:49128048-49128048;C/T missense_variant False PPFIA3@p.S338L 1 0.25 ENSG00000177380 chr19:49133134-49133134;C/T missense_variant False PPFIA3@p.S753F 1 0.37628866 ENSG00000177380 chr19:49139978-49139978;C/T missense_variant False PPFIA3@p.T934Pfs*19 1 0.409090909 ENSG00000177380 chr19:49145996-49145996;G/- frameshift_variant False PTGES3@p.I73V 1 0.28 ENSG00000110958 chr12:56671817-56671817;T/C missense_variant False PTGES2@p.G206S 1 0.481132075 ENSG00000148334 chr9:128123772-128123772;C/T missense_variant False PPFIA4@p.E698K 1 0.146666667 ENSG00000143847 chr1:203056426-203056426;G/A missense_variant False PPFIA4@p.E916K 1 0.388888889 ENSG00000143847 chr1:203060997-203060997;G/A missense_variant False PPFIA4@p.R488H 1 0.6 ENSG00000143847 chr1:203049707-203049707;G/A missense_variant False PPFIA4@p.S1140F 1 0.470588235 ENSG00000143847 chr1:203075668-203075668;C/T missense_variant False PPFIA4@p.S596Y 1 0.176470588 ENSG00000143847 chr1:203055455-203055455;C/A missense_variant False PPFIA4@p.S626Y 1 0.239130435 ENSG00000143847 chr1:203055545-203055545;C/A missense_variant False PTGES2@p.E139Q 1 0.714285714 ENSG00000148334 chr9:128125306-128125306;C/G missense_variant False PTGER4@p.R256H 1 0.212121212 ENSG00000171522 chr5:40681760-40681760;G/A missense_variant False PTGER4@p.R219H 1 0.263157895 ENSG00000171522 chr5:40681649-40681649;G/A missense_variant False PPFIA4@p.S647C 1 0.346938776 ENSG00000143847 chr1:203055608-203055608;C/G missense_variant False PPFIBP1@p.L179F 1 0.408602151 ENSG00000110841 chr12:27650075-27650075;G/C missense_variant False PPFIBP1@p.L70M 1 0.175 ENSG00000110841 chr12:27635053-27635053;T/A missense_variant False PTGES3L-AARSD1@p.E463Q 1 0.119402985 ENSG00000108825 chr17:42953738-42953738;C/G missense_variant False PPFIA3@p.E38K 1 0.307692308 ENSG00000177380 chr19:49127985-49127985;G/A missense_variant False PTGDR@p.G250E 1 0.178217822 ENSG00000168229 chr14:52268563-52268563;G/A missense_variant False PPFIA3@p.E389K 1 0.166666667 ENSG00000177380 chr19:49133799-49133799;G/A missense_variant False PPEF2@p.M688I 1 0.228070175 ENSG00000156194 chr4:75860865-75860865;C/T missense_variant False PPEF2@p.R608G 1 0.52238806 ENSG00000156194 chr4:75866287-75866287;G/C missense_variant False PTGFR@p.L280V 1 0.444444444 ENSG00000122420 chr1:78536445-78536445;C/G missense_variant False PPFIA1@p.D1010H 1 0.333333333 ENSG00000131626 chr11:70372377-70372377;G/C missense_variant False PPFIA1@p.D602H 1 0.101449275 ENSG00000131626 chr11:70343765-70343765;G/C missense_variant False PTGFR@p.L202V 1 0.117647059 ENSG00000122420 chr1:78493347-78493347;C/G missense_variant False PTGFR@p.H143Y 1 0.116883117 ENSG00000122420 chr1:78493170-78493170;C/T missense_variant False PPFIA1@p.E349K 1 0.431192661 ENSG00000131626 chr11:70330287-70330287;G/A missense_variant False PPFIA1@p.I639M 1 0.25 ENSG00000131626 chr11:70343878-70343878;C/G missense_variant False PPFIA1@p.L997F 1 0.523809524 ENSG00000131626 chr11:70372340-70372340;G/C missense_variant False PPFIA1@p.P151Q 1 0.126760563 ENSG00000131626 chr11:70324932-70324932;C/A missense_variant False PPFIA1@p.Q397H 1 0.171171171 ENSG00000131626 chr11:70332073-70332073;G/C missense_variant False PPFIA1@p.S242F 1 0.199421965 ENSG00000131626 chr11:70326613-70326613;C/T missense_variant False PPFIA2@p.A706D 1 0.375661376 ENSG00000139220 chr12:81347648-81347648;G/T missense_variant False PPFIA2@p.A915V 1 0.227272727 ENSG00000139220 chr12:81295016-81295016;G/A missense_variant False PTGFR@p.A49T 1 0.549618321 ENSG00000122420 chr1:78492888-78492888;G/A missense_variant False PPFIA2@p.D40H 1 0.157894737 ENSG00000139220 chr12:81754104-81754104;C/G missense_variant False PPFIA2@p.E455D 1 0.43902439 ENSG00000139220 chr12:81368842-81368842;C/A missense_variant False PPFIA2@p.G1025A 1 0.13559322 ENSG00000139220 chr12:81281395-81281395;C/G missense_variant False PPFIA2@p.G864R 1 0.130434783 ENSG00000139220 chr12:81325829-81325829;C/T missense_variant False PPFIA2@p.I939T 1 0.153846154 ENSG00000139220 chr12:81294944-81294944;A/G missense_variant False PPFIA2@p.L81M 1 0.357142857 ENSG00000139220 chr12:81753981-81753981;G/T missense_variant False PPFIA2@p.M651I 1 0.078947368 ENSG00000139220 chr12:81353160-81353160;C/T missense_variant False PPFIA2@p.P1202S 1 0.266666667 ENSG00000139220 chr12:81263342-81263342;G/A missense_variant False PPFIA2@p.S203F 1 0.193548387 ENSG00000139220 chr12:81440009-81440009;G/A missense_variant False PPFIBP1@p.L82V 1 0.304878049 ENSG00000110841 chr12:27635089-27635089;C/G missense_variant False PPFIBP1@p.M849V 1 0.119170984 ENSG00000110841 chr12:27689045-27689045;A/G missense_variant False PPFIBP2@p.L328F 1 0.193877551 ENSG00000166387 chr11:7630942-7630942;C/T missense_variant False PTGER4@p.K334N 1 0.271111111 ENSG00000171522 chr5:40691913-40691913;G/C missense_variant False PPIG@p.E721Q 1 0.166666667 ENSG00000138398 chr2:169637419-169637419;G/C missense_variant False PPIG@p.G116Efs*12 1 0.333333333 ENSG00000138398 chr2:169608723-169608724;-/AG frameshift_variant False PPIG@p.G86E 1 0.169117647 ENSG00000138398 chr2:169607116-169607116;G/A missense_variant False PTGER3@p.A231T 1 0.141176471 ENSG00000050628 chr1:71046887-71046887;C/T missense_variant False PPIG@p.P344A 1 0.333333333 ENSG00000138398 chr2:169636104-169636104;C/G missense_variant False PPIG@p.Q269H 1 0.3 ENSG00000138398 chr2:169631811-169631811;G/T missense_variant False PTGER2@p.T272I 1 0.52 ENSG00000125384 chr14:52315363-52315363;C/T missense_variant False PPIG@p.R23K 1 0.071428571 ENSG00000138398 chr2:169604193-169604193;G/A missense_variant False PTGER2@p.S149L 1 0.38372093 ENSG00000125384 chr14:52314994-52314994;C/T missense_variant False PPIG@p.R584C 1 0.434210526 ENSG00000138398 chr2:169637008-169637008;C/T missense_variant False PPIG@p.S53L 1 0.871794872 ENSG00000138398 chr2:169606060-169606060;C/T missense_variant False PTGER2@p.E23K 1 0.3 ENSG00000125384 chr14:52314615-52314615;G/A missense_variant False PPIL1@p.D59H 1 0.067226891 ENSG00000137168 chr6:36871754-36871754;C/G missense_variant False PPIL2@p.A254V 1 0.811594203 ENSG00000100023 chr22:21686529-21686529;C/T missense_variant False PTGER2@p.E105D 1 0.388888889 ENSG00000125384 chr14:52314863-52314863;G/C missense_variant False PTGER2@p.D297Y 1 0.09375 ENSG00000125384 chr14:52327266-52327266;G/T missense_variant False PTGER2@p.A115T 1 0.535353535 ENSG00000125384 chr14:52314891-52314891;G/A missense_variant False PTGER1@p.R364C 1 0.210526316 ENSG00000160951 chr19:14472679-14472679;G/A missense_variant False PPIL4@p.D145G 1 0.325203252 ENSG00000131013 chr6:149535626-149535626;T/C missense_variant False PPIL4@p.E19K 1 0.333333333 ENSG00000131013 chr6:149545951-149545951;C/T missense_variant False PPIL4@p.E20K 1 0.24137931 ENSG00000131013 chr6:149545948-149545948;C/T missense_variant False PPIL4@p.E289Q 1 0.253521127 ENSG00000131013 chr6:149525148-149525148;C/G missense_variant False PTGDS@p.H4Y 1 0.075471698 ENSG00000284341 chr9:136977588-136977588;C/T missense_variant False PTGDR@p.S157R 1 0.057142857 ENSG00000168229 chr14:52268285-52268285;C/A missense_variant False PPIL4@p.F200L 1 0.351351351 ENSG00000131013 chr6:149533536-149533536;G/C missense_variant False PPIF@p.S195C 1 0.294117647 ENSG00000108179 chr10:79353802-79353802;C/G missense_variant False PPIF@p.K190E 1 0.392156863 ENSG00000108179 chr10:79353786-79353786;A/G missense_variant False PPIE@p.E179K 1 0.173913043 ENSG00000084072 chr1:39748929-39748929;G/A missense_variant False PPIA@p.D85N 1 0.054421769 ENSG00000196262 chr7:44799765-44799765;G/A missense_variant False PTGER4@p.F171L 1 0.186440678 ENSG00000171522 chr5:40681506-40681506;C/A missense_variant False PPFIBP2@p.L391F 1 0.179487179 ENSG00000166387 chr11:7634531-7634531;G/C missense_variant False PPFIBP2@p.R360T 1 0.166666667 ENSG00000166387 chr11:7632877-7632877;G/C missense_variant False PPHLN1@p.D126N 1 0.329113924 ENSG00000134283 chr12:42374939-42374939;G/A missense_variant False PPHLN1@p.E231K 1 0.445652174 ENSG00000134283 chr12:42393612-42393612;G/A missense_variant False PPHLN1@p.E251K 1 0.314814815 ENSG00000134283 chr12:42393672-42393672;G/A missense_variant False PTGER4@p.E387K 1 0.085714286 ENSG00000171522 chr5:40692070-40692070;G/A missense_variant False PPHLN1@p.N127K 1 0.471428571 ENSG00000134283 chr12:42374944-42374944;T/G missense_variant False PPHLN1@p.P324A 1 0.322916667 ENSG00000134283 chr12:42441375-42441375;C/G missense_variant False PPHLN1@p.R174H 1 0.461538462 ENSG00000134283 chr12:42384949-42384949;G/A missense_variant False PPHLN1@p.S92C 1 0.320754717 ENSG00000134283 chr12:42355198-42355198;C/G missense_variant False PPIA@p.T116A 1 0.275 ENSG00000196262 chr7:44799858-44799858;A/G missense_variant False PPIE@p.E120Q 1 0.357142857 ENSG00000084072 chr1:39743898-39743898;G/C missense_variant False PPIAL4A@p.T107I 1 0.373493976 ENSG00000263353 chr1:120890140-120890140;C/T missense_variant False PPIB@p.D49H 1 0.56884058 ENSG00000166794 chr15:64162145-64162145;C/G missense_variant False PPIB@p.D56Y 1 0.222222222 ENSG00000166794 chr15:64162124-64162124;C/A missense_variant False PTGER4@p.A466Lfs*15 1 0.206896552 ENSG00000171522 chr5:40692303-40692306;GCCT/- frameshift_variant False PTGER3@p.S413L 1 0.043478261 ENSG00000050628 chr1:70952926-70952926;G/A missense_variant False PPIB@p.R95G 1 0.188405797 ENSG00000166794 chr15:64160164-64160164;G/C missense_variant False PTGER3@p.F371I 1 0.298429319 ENSG00000050628 chr1:70852852-70852852;A/T missense_variant False PPID@p.F87L 1 0.75 ENSG00000171497 chr4:158719252-158719252;G/C missense_variant False PTGER3@p.E154K 1 0.666666667 ENSG00000050628 chr1:71047118-71047118;C/T missense_variant False PPID@p.G57A 1 0.466666667 ENSG00000171497 chr4:158721399-158721399;C/G missense_variant False PPIE@p.D221N 1 0.492537313 ENSG00000084072 chr1:39749055-39749055;G/A missense_variant False PPEF2@p.E730K 1 0.315789474 ENSG00000156194 chr4:75860741-75860741;C/T missense_variant False PPEF2@p.D732N 1 0.261363636 ENSG00000156194 chr4:75860735-75860735;C/T missense_variant False PPEF2@p.D448N 1 0.362318841 ENSG00000156194 chr4:75873291-75873291;C/T missense_variant False PPARA@p.H113Y 1 0.578947368 ENSG00000186951 chr22:46215301-46215301;C/T missense_variant False POU4F2@p.E85K 1 0.128205128 ENSG00000151615 chr4:146639393-146639393;G/A missense_variant False POU4F2@p.G199W 1 0.454545455 ENSG00000151615 chr4:146640173-146640173;G/T missense_variant False POU4F2@p.S37W 1 0.631578947 ENSG00000151615 chr4:146639250-146639250;C/G missense_variant False POU4F3@p.D50H 1 0.376344086 ENSG00000091010 chr5:146339575-146339575;G/C missense_variant False PTH1R@p.S246C 1 0.509803922 ENSG00000160801 chr3:46898760-46898760;C/G missense_variant False POU4F3@p.F10L 1 0.178571429 ENSG00000091010 chr5:146339142-146339142;C/A missense_variant False POU4F3@p.T126K 1 0.16 ENSG00000091010 chr5:146339804-146339804;C/A missense_variant False POU5F1@p.K156N 1 0.621621622 ENSG00000204531 chr6:31165985-31165985;C/G missense_variant False POU6F1@p.E576K 1 0.201117318 ENSG00000184271 chr12:51190357-51190357;C/T missense_variant False POU6F1@p.S493L 1 0.522727273 ENSG00000184271 chr12:51191608-51191608;G/A missense_variant False POU6F2@p.A27V 1 0.11627907 ENSG00000106536 chr7:39085921-39085921;C/T missense_variant False POU6F2@p.E649K 1 0.344827586 ENSG00000106536 chr7:39464555-39464555;G/A missense_variant False POU6F2@p.G554D 1 0.081081081 ENSG00000106536 chr7:39464271-39464271;G/A missense_variant False POU6F2@p.L366M 1 0.112676056 ENSG00000106536 chr7:39433146-39433146;T/A missense_variant False POU6F2@p.Q268K 1 0.4375 ENSG00000106536 chr7:39339932-39339932;C/A missense_variant False PTH1R@p.P130L 1 0.571428571 ENSG00000160801 chr3:46897930-46897930;C/T missense_variant False PTH1R@p.E579Q 1 0.146892655 ENSG00000160801 chr3:46903609-46903609;G/C missense_variant False PTGS2@p.R46L 1 0.287356322 ENSG00000073756 chr1:186679354-186679354;C/A missense_variant False PTGS2@p.Q382E 1 0.25203252 ENSG00000073756 chr1:186676011-186676011;G/C missense_variant False POU6F2@p.R22Q 1 0.703703704 ENSG00000106536 chr7:39085906-39085906;G/A missense_variant False POU6F2@p.T266I 1 0.333333333 ENSG00000106536 chr7:39339927-39339927;C/T missense_variant False PPA1@p.S54C 1 0.419354839 ENSG00000180817 chr10:70218780-70218780;G/C missense_variant False PPA2@p.I139V 1 0.448979592 ENSG00000138777 chr4:105446409-105446409;T/C missense_variant False PPA2@p.L235F 1 0.161290323 ENSG00000138777 chr4:105399117-105399117;G/A missense_variant False PTGS2@p.I484M 1 0.830316742 ENSG00000073756 chr1:186674716-186674716;G/C missense_variant False POU4F2@p.E373K 1 0.149253731 ENSG00000151615 chr4:146640695-146640695;G/A missense_variant False POU4F2@p.A343V 1 0.321167883 ENSG00000151615 chr4:146640606-146640606;C/T missense_variant False POU4F2@p.A113V 1 0.573529412 ENSG00000151615 chr4:146639916-146639916;C/T missense_variant False POU3F3@p.G404Afs*233 1 0.35483871 ENSG00000198914 chr2:104856715-104856722;CGCAGGGC/- frameshift_variant False POU3F2@p.K354T 1 0.333333333 ENSG00000184486 chr6:98835934-98835934;A/C missense_variant False PTHLH@p.E77Q 1 0.102702703 ENSG00000087494 chr12:27963643-27963643;C/G missense_variant False PTH@p.D76N 1 0.152542373 ENSG00000152266 chr11:13492527-13492527;C/T missense_variant False PTH2R@p.P85A 1 0.6 ENSG00000144407 chr2:208437611-208437611;C/G missense_variant False PTH2R@p.L164V 1 0.293650794 ENSG00000144407 chr2:208442442-208442442;C/G missense_variant False POU3F2@p.P414L 1 0.159090909 ENSG00000184486 chr6:98836114-98836114;C/T missense_variant False PTH2R@p.E398K 1 0.259259259 ENSG00000144407 chr2:208489127-208489127;G/A missense_variant False POU3F3@p.D321N 1 0.472972973 ENSG00000198914 chr2:104856471-104856471;G/A missense_variant False POU3F3@p.E364Q 1 0.28057554 ENSG00000198914 chr2:104856600-104856600;G/C missense_variant False PTH2R@p.D523N 1 0.298850575 ENSG00000144407 chr2:208493573-208493573;G/A missense_variant False PTH2R@p.D436Y 1 0.7 ENSG00000144407 chr2:208493312-208493312;G/T missense_variant False POU3F4@p.E168K 1 0.647058824 ENSG00000196767 chrX:83508826-83508826;G/A missense_variant False POU4F1@p.S303L 1 0.393939394 ENSG00000152192 chr13:78601767-78601767;G/A missense_variant False POU3F4@p.E294Q 1 0.45 ENSG00000196767 chrX:83509204-83509204;G/C missense_variant False POU3F4@p.I206M 1 0.794392523 ENSG00000196767 chrX:83508942-83508942;C/G missense_variant False POU3F4@p.R279H 1 0.254237288 ENSG00000196767 chrX:83509160-83509160;G/A missense_variant False PTH2R@p.D313Y 1 0.779220779 ENSG00000144407 chr2:208459917-208459917;G/T missense_variant False POU4F1@p.E313K 1 0.294117647 ENSG00000152192 chr13:78601738-78601738;C/T missense_variant False PTH2R@p.C19S 1 0.232876712 ENSG00000144407 chr2:208407098-208407098;T/A missense_variant False PTH2@p.G48E 1 0.454545455 ENSG00000142538 chr19:49422628-49422628;C/T missense_variant False POU4F1@p.E337K 1 0.392857143 ENSG00000152192 chr13:78601666-78601666;C/T missense_variant False POU4F1@p.E366D 1 0.083333333 ENSG00000152192 chr13:78601577-78601577;C/A missense_variant False PTH1R@p.S491Afs*15 1 0.166666667 ENSG00000160801 chr3:46903342-46903342;G/- frameshift_variant False POU4F1@p.L293P 1 0.235294118 ENSG00000152192 chr13:78601797-78601797;A/G missense_variant False PPAN-P2RY11@p.Q267H 1 0.256410256 ENSG00000243207 chr19:10110225-10110225;G/C missense_variant False PPARA@p.S80L 1 0.390243902 ENSG00000186951 chr22:46215203-46215203;C/T missense_variant False PPEF1@p.E550K 1 0.342105263 ENSG00000086717 chrX:18824069-18824069;G/A missense_variant False PTGS2@p.D590N 1 0.320987654 ENSG00000073756 chr1:186674400-186674400;C/T missense_variant False PPARGC1A@p.R631W 1 0.244897959 ENSG00000109819 chr4:23813028-23813028;G/A missense_variant False PPARGC1A@p.R657Q 1 0.412790698 ENSG00000109819 chr4:23812796-23812796;C/T missense_variant False PTGFRN@p.V432L 1 0.252631579 ENSG00000134247 chr1:116961323-116961323;G/T missense_variant False PPARGC1A@p.S313F 1 0.182926829 ENSG00000109819 chr4:23814545-23814545;G/A missense_variant False PPARGC1A@p.Y333H 1 0.143884892 ENSG00000109819 chr4:23814486-23814486;A/G missense_variant False PPARGC1B@p.D1012N 1 0.336734694 ENSG00000155846 chr5:149847520-149847520;G/A missense_variant False PTGFRN@p.T495Nfs*46 1 0.161290323 ENSG00000134247 chr1:116961511-116961512;-/A frameshift_variant False PTGFRN@p.L596R 1 0.432835821 ENSG00000134247 chr1:116967058-116967058;T/G missense_variant False PPARGC1B@p.E787K 1 0.435897436 ENSG00000155846 chr5:149836814-149836814;G/A missense_variant False PPARGC1B@p.P607L 1 0.258928571 ENSG00000155846 chr5:149836275-149836275;C/T missense_variant False PPARGC1B@p.S267F 1 0.057142857 ENSG00000155846 chr5:149832873-149832873;C/T missense_variant False PPARGC1B@p.V703I 1 0.494949495 ENSG00000155846 chr5:149836562-149836562;G/A missense_variant False PTGFRN@p.L295Q 1 0.237410072 ENSG00000134247 chr1:116949243-116949243;T/A missense_variant False PPAT@p.S327C 1 0.225433526 ENSG00000128059 chr4:56400818-56400818;G/C missense_variant False PPAT@p.V109I 1 0.310810811 ENSG00000128059 chr4:56406572-56406572;C/T missense_variant False PTGFRN@p.E680Q 1 0.265306122 ENSG00000134247 chr1:116967309-116967309;G/C missense_variant False PPBP@p.P74L 1 0.261682243 ENSG00000163736 chr4:73987580-73987580;G/A missense_variant False PPCDC@p.D84N 1 0.53125 ENSG00000138621 chr15:75044404-75044404;G/A missense_variant False PPCS@p.D297N 1 0.5 ENSG00000127125 chr1:42459879-42459879;G/A missense_variant False PPCS@p.E137K 1 0.418181818 ENSG00000127125 chr1:42456974-42456974;G/A missense_variant False PPCS@p.K287I 1 0.178217822 ENSG00000127125 chr1:42459850-42459850;A/T missense_variant False PTGFRN@p.D509H 1 0.056 ENSG00000134247 chr1:116961554-116961554;G/C missense_variant False PPCS@p.S199Tfs*17 1 0.183908046 ENSG00000127125 chr1:42457333-42457343;TCTGGGGGCCC/- frameshift_variant False PPEF1@p.D385H 1 0.391304348 ENSG00000086717 chrX:18803979-18803979;G/C missense_variant False PPEF1@p.E211D 1 1.0 ENSG00000086717 chrX:18779084-18779084;G/T missense_variant False PPARGC1A@p.R408T 1 0.360655738 ENSG00000109819 chr4:23814260-23814260;C/G missense_variant False PPARGC1A@p.P446S 1 0.2 ENSG00000109819 chr4:23814147-23814147;G/A missense_variant False PPARGC1A@p.M5K 1 0.253521127 ENSG00000109819 chr4:23889944-23889944;A/T missense_variant False PTGS1@p.R149S 1 0.081632653 ENSG00000095303 chr9:122378867-122378867;C/A missense_variant False PPARD@p.E16D 1 0.193548387 ENSG00000112033 chr6:35411135-35411135;G/C missense_variant False PPARD@p.K153N 1 0.818181818 ENSG00000112033 chr6:35423980-35423980;G/C missense_variant False PPARD@p.S50L 1 0.205882353 ENSG00000112033 chr6:35420145-35420145;C/T missense_variant False PPARG@p.D96H 1 0.456140351 ENSG00000132170 chr3:12379907-12379907;G/C missense_variant False PPARG@p.E128K 1 0.115384615 ENSG00000132170 chr3:12381393-12381393;G/A missense_variant False PPARG@p.E455Q 1 0.182926829 ENSG00000132170 chr3:12433990-12433990;G/C missense_variant False PPARG@p.F310S 1 0.285714286 ENSG00000132170 chr3:12416813-12416813;T/C missense_variant False PPARG@p.H494Y 1 0.648148148 ENSG00000132170 chr3:12434107-12434107;C/T missense_variant False PPARG@p.I290M 1 0.391304348 ENSG00000132170 chr3:12416754-12416754;C/G missense_variant False PPARG@p.P82A 1 0.23364486 ENSG00000132170 chr3:12379865-12379865;C/G missense_variant False PTGS1@p.R276G 1 0.227272727 ENSG00000095303 chr9:122383572-122383572;C/G missense_variant False PPARG@p.R168K 1 0.454545455 ENSG00000132170 chr3:12392636-12392636;G/A missense_variant False PPARGC1A@p.K646N 1 0.088888889 ENSG00000109819 chr4:23812828-23812828;C/G missense_variant False PTGR2@p.E309Q 1 0.739130435 ENSG00000140043 chr14:73881278-73881278;G/C missense_variant False PTGR1@p.S223L 1 0.933333333 ENSG00000106853 chr9:111574826-111574826;G/A missense_variant False PPARG@p.T20Nfs*14 1 0.349056604 ENSG00000132170 chr3:12351649-12351650;-/A frameshift_variant False PPARG@p.T475M 1 0.310344828 ENSG00000132170 chr3:12434051-12434051;C/T missense_variant False PTGIS@p.E472Q 1 0.122222222 ENSG00000124212 chr20:49508009-49508009;C/G missense_variant False PPARGC1A@p.D219Y 1 0.308823529 ENSG00000109819 chr4:23828502-23828502;C/A missense_variant False PTGIS@p.E416Q 1 0.073170732 ENSG00000124212 chr20:49511140-49511140;C/G missense_variant False PPARGC1A@p.I684M 1 0.147368421 ENSG00000109819 chr4:23802313-23802313;G/C missense_variant False PTGIR@p.P266R 1 0.266666667 ENSG00000160013 chr19:46621644-46621644;G/C missense_variant False PPARGC1A@p.K329N 1 0.532110092 ENSG00000109819 chr4:23814496-23814496;C/G missense_variant False PTGIR@p.A74T 1 0.75 ENSG00000160013 chr19:46624006-46624006;C/T missense_variant False PPIL4@p.H419Y 1 0.2 ENSG00000131013 chr6:149505677-149505677;G/A missense_variant False PPIL4@p.K215Lfs*33 1 0.25 ENSG00000131013 chr6:149533490-149533493;CTTT/AAG frameshift_variant False PTBP3@p.S155G 1 0.434782609 ENSG00000119314 chr9:112262572-112262572;T/C missense_variant False PTCH2@p.S628F 1 0.171641791 ENSG00000117425 chr1:44828018-44828018;G/A missense_variant False PTCH2@p.R415Q 1 0.15 ENSG00000117425 chr1:44829284-44829284;C/T missense_variant False PTCH2@p.L869Wfs*124 1 0.127853881 ENSG00000117425 chr1:44826992-44826992;G/- frameshift_variant False PPP1R12A@p.S565C 1 0.160220994 ENSG00000058272 chr12:79806295-79806295;G/C missense_variant False PPP1R12A@p.S657F 1 0.333333333 ENSG00000058272 chr12:79805622-79805622;G/A missense_variant False PPP1R12B@p.E166A 1 0.45 ENSG00000077157 chr1:202422694-202422694;A/C missense_variant False PPP1R12B@p.R16Q 1 0.214285714 ENSG00000077157 chr1:202348898-202348898;G/A missense_variant False PPP1R12B@p.R215H 1 0.291666667 ENSG00000077157 chr1:202425668-202425668;G/A missense_variant False PTCH2@p.E219K 1 0.142857143 ENSG00000117425 chr1:44831006-44831006;C/T missense_variant False PPP1R12B@p.R859C 1 0.391304348 ENSG00000077157 chr1:202562845-202562845;C/T missense_variant False PPP1R12B@p.S393F 1 0.263157895 ENSG00000077157 chr1:202434692-202434692;C/T missense_variant False PPP1R12B@p.S472F 1 0.099009901 ENSG00000077157 chr1:202437981-202437981;C/T missense_variant False PPP1R12B@p.S855L 1 0.234042553 ENSG00000077157 chr1:202562834-202562834;C/T missense_variant False PTCH1@p.T425M 1 0.265957447 ENSG00000185920 chr9:95478128-95478128;G/A missense_variant True PTCH1@p.S383L 1 0.435483871 ENSG00000185920 chr9:95479067-95479067;G/A missense_variant True PPP1R12C@p.L552F 1 0.082568807 ENSG00000125503 chr19:55094374-55094374;G/A missense_variant False PTCH1@p.R772K 1 0.754098361 ENSG00000185920 chr9:95467361-95467361;C/T missense_variant True PTCH1@p.R1320K 1 0.182692308 ENSG00000185920 chr9:95447297-95447297;C/T missense_variant True PPP1R13B@p.A786S 1 0.361290323 ENSG00000088808 chr14:103740060-103740060;C/A missense_variant False PPP1R13B@p.A931T 1 0.158273381 ENSG00000088808 chr14:103738752-103738752;C/T missense_variant False PTCH1@p.Q1285H 1 0.454545455 ENSG00000185920 chr9:95447401-95447401;C/A missense_variant True PPP1R13B@p.E646D 1 0.119402985 ENSG00000088808 chr14:103740478-103740478;C/G missense_variant False PPP1R13B@p.G39E 1 0.132450331 ENSG00000088808 chr14:103797412-103797412;C/T missense_variant False PPP1R13B@p.K401Nfs*54 1 0.18852459 ENSG00000088808 chr14:103742774-103742774;C/- frameshift_variant False PTCH1@p.P1341A 1 0.210526316 ENSG00000185920 chr9:95447235-95447235;G/C missense_variant True PPP1R13B@p.R1085Q 1 0.13592233 ENSG00000088808 chr14:103735173-103735173;C/T missense_variant False PPP1R12A@p.R557K 1 0.200956938 ENSG00000058272 chr12:79806319-79806319;C/T missense_variant False PPP1R12A@p.R437M 1 0.461538462 ENSG00000058272 chr12:79809940-79809940;C/A missense_variant False PPIP5K1@p.E1232Q 1 0.40625 ENSG00000168781 chr15:43535282-43535282;C/G missense_variant False PTCHD1@p.D638N 1 0.5 ENSG00000165186 chrX:23393430-23393430;G/A missense_variant False PPP1CB@p.R319Q 1 0.323943662 ENSG00000213639 chr2:28799275-28799275;G/A missense_variant False PPP1CB@p.V164L 1 0.215686275 ENSG00000213639 chr2:28781812-28781812;G/C missense_variant False PPP1CC@p.E116Q 1 0.218309859 ENSG00000186298 chr12:110730601-110730601;C/G missense_variant False PPP1R10@p.E419K 1 0.468208092 ENSG00000204569 chr6:30604359-30604359;C/T missense_variant False PPP1R10@p.E61K 1 0.197183099 ENSG00000204569 chr6:30609090-30609090;C/T missense_variant False PPP1R10@p.E833K 1 0.231481481 ENSG00000204569 chr6:30602152-30602152;C/T missense_variant False PTCHD3@p.G455E 1 0.307692308 ENSG00000182077 chr10:27399234-27399234;C/T missense_variant False PPP1R10@p.F915L 1 0.161290323 ENSG00000204569 chr6:30601627-30601627;G/C missense_variant False PPP1R10@p.G775S 1 0.160493827 ENSG00000204569 chr6:30602326-30602326;C/T missense_variant False PTCHD3@p.D93N 1 0.2125 ENSG00000182077 chr10:27413974-27413974;C/T missense_variant False PPP1R10@p.G821A 1 0.124481328 ENSG00000204569 chr6:30602187-30602187;C/G missense_variant False PTCHD1@p.Y548N 1 0.23655914 ENSG00000165186 chrX:23393160-23393160;T/A missense_variant False PPP1R10@p.L198V 1 0.18556701 ENSG00000204569 chr6:30606510-30606510;G/C missense_variant False PTCHD1@p.V33M 1 0.222222222 ENSG00000165186 chrX:23334972-23334972;G/A missense_variant False PTCHD1@p.V335I 1 0.12 ENSG00000165186 chrX:23380242-23380242;G/A missense_variant False PPP1R10@p.R894Q 1 0.3 ENSG00000204569 chr6:30601968-30601968;C/T missense_variant False PPP1R10@p.R922H 1 0.451612903 ENSG00000204569 chr6:30601607-30601607;C/T missense_variant False PPP1R10@p.S219C 1 0.787878788 ENSG00000204569 chr6:30606222-30606222;G/C missense_variant False PPP1R11@p.E38D 1 0.051020408 ENSG00000204619 chr6:30068634-30068634;G/C missense_variant False PTCHD1@p.S288C 1 0.867924528 ENSG00000165186 chrX:23380102-23380102;C/G missense_variant False PPP1R12A@p.D488G 1 0.233160622 ENSG00000058272 chr12:79808570-79808570;T/C missense_variant False PTCHD1@p.N593S 1 0.4125 ENSG00000165186 chrX:23393296-23393296;A/G missense_variant False PTCHD1@p.K853N 1 0.328 ENSG00000165186 chrX:23394077-23394077;G/C missense_variant False PPP1R12A@p.D84H 1 0.111111111 ENSG00000058272 chr12:79872926-79872926;C/G missense_variant False PPP1R12A@p.K37M 1 0.666666667 ENSG00000058272 chr12:79934822-79934822;T/A missense_variant False PTCH1@p.I921M 1 0.164383562 ENSG00000185920 chr9:95459724-95459724;G/C missense_variant True PRAMEF12@p.E468K 1 0.188405797 ENSG00000116726 chr1:12777549-12777549;G/A missense_variant False PTCH1@p.E604Q 1 0.221153846 ENSG00000185920 chr9:95469850-95469850;C/G missense_variant True PPP1R13L@p.E4K 1 0.193548387 ENSG00000104881 chr19:45398309-45398309;C/T missense_variant False PPP1R16A@p.D290Y 1 0.529411765 ENSG00000160972 chr8:144500722-144500722;G/T missense_variant False PTCD3@p.E29K 1 0.307692308 ENSG00000132300 chr2:86106332-86106332;G/A missense_variant False PPP1R16A@p.E102K 1 0.264705882 ENSG00000160972 chr8:144498814-144498814;G/A missense_variant False PTCD3@p.E143Q 1 0.333333333 ENSG00000132300 chr2:86118933-86118933;G/C missense_variant False PPP1R16A@p.P444S 1 0.583333333 ENSG00000160972 chr8:144501646-144501646;C/T missense_variant False PPP1R16A@p.S135T 1 0.2 ENSG00000160972 chr8:144498989-144498989;G/C missense_variant False PPP1R16B@p.G145R 1 0.148148148 ENSG00000101445 chr20:38895676-38895676;G/C missense_variant False PPP1R16B@p.I183M 1 0.170731707 ENSG00000101445 chr20:38900662-38900662;C/G missense_variant False PPP1R16B@p.L481P 1 0.375 ENSG00000101445 chr20:38918404-38918404;T/C missense_variant False PPP1R16B@p.P544A 1 0.152173913 ENSG00000101445 chr20:38918592-38918592;C/G missense_variant False PTCD1@p.Y302N 1 0.245454545 ENSG00000106246 chr7:99429114-99429114;A/T missense_variant False PPP1R16B@p.R55H 1 0.266666667 ENSG00000101445 chr20:38836089-38836089;G/A missense_variant False PPP1R17@p.D136N 1 0.153846154 ENSG00000106341 chr7:31707221-31707221;G/A missense_variant False PPP1R18@p.D131Ifs*14 1 0.31147541 ENSG00000146112 chr6:30685628-30685628;C/- frameshift_variant False PPP1R18@p.E350Q 1 0.045714286 ENSG00000146112 chr6:30684971-30684971;C/G missense_variant False PTCD1@p.R130Q 1 0.354368932 ENSG00000106246 chr7:99434854-99434854;C/T missense_variant False PPP1R18@p.G286V 1 0.185185185 ENSG00000146112 chr6:30685162-30685162;C/A missense_variant False PTCD1@p.L467F 1 0.116666667 ENSG00000106246 chr7:99425131-99425131;C/G missense_variant False PTCD1@p.K409N 1 0.242424242 ENSG00000106246 chr7:99425305-99425305;C/G missense_variant False PPP1R18@p.L167M 1 0.342995169 ENSG00000146112 chr6:30685520-30685520;G/T missense_variant False PPP1R18@p.R342P 1 0.207407407 ENSG00000146112 chr6:30684994-30684994;C/G missense_variant False PPP1R18@p.S265L 1 0.068965517 ENSG00000146112 chr6:30685225-30685225;G/A missense_variant False PPP1R18@p.S338C 1 0.462121212 ENSG00000146112 chr6:30685006-30685006;G/C missense_variant False PPP1R1B@p.E130Q 1 0.117647059 ENSG00000131771 chr17:39634029-39634029;G/C missense_variant False PTCD1@p.H588Y 1 0.30952381 ENSG00000106246 chr7:99423933-99423933;G/A missense_variant False PTCD3@p.L339V 1 0.424657534 ENSG00000132300 chr2:86127224-86127224;C/G missense_variant False PPP1R16A@p.A465V 1 0.5 ENSG00000160972 chr8:144501710-144501710;C/T missense_variant False PPP1R16A@p.A286V 1 0.208333333 ENSG00000160972 chr8:144500711-144500711;C/T missense_variant False PPP1R15A@p.S641L 1 0.536649215 ENSG00000087074 chr19:48875870-48875870;C/T missense_variant False PPP1R13L@p.E794Q 1 0.415384615 ENSG00000104881 chr19:45382595-45382595;C/G missense_variant False PTCH1@p.E339Q 1 0.27184466 ENSG00000185920 chr9:95480021-95480021;C/G missense_variant True PPP1R13L@p.M15I 1 0.430555556 ENSG00000104881 chr19:45398274-45398274;C/T missense_variant False PTCH1@p.E286K 1 0.298701299 ENSG00000185920 chr9:95480479-95480479;C/T missense_variant True PPP1R13L@p.S253F 1 0.425925926 ENSG00000104881 chr19:45396391-45396391;G/A missense_variant False PPP1R14C@p.D115N 1 0.228571429 ENSG00000198729 chr6:150214780-150214780;G/A missense_variant False PTCH1@p.E1095Q 1 0.630769231 ENSG00000185920 chr9:95456299-95456299;C/G missense_variant True PPP1R14C@p.R155S 1 0.066666667 ENSG00000198729 chr6:150248787-150248787;G/C missense_variant False PTCH1@p.D609N 1 0.165354331 ENSG00000185920 chr9:95469835-95469835;C/T missense_variant True PPP1R15A@p.D355A 1 0.551282051 ENSG00000087074 chr19:48874297-48874297;A/C missense_variant False PPP1R15A@p.E196K 1 0.424242424 ENSG00000087074 chr19:48873819-48873819;G/A missense_variant False PPP1R15A@p.S659L 1 0.330882353 ENSG00000087074 chr19:48875924-48875924;C/T missense_variant False PPP1R15B@p.S286F 1 0.233333333 ENSG00000158615 chr1:204410555-204410555;G/A missense_variant False PPP1R15A@p.W482S 1 0.193181818 ENSG00000087074 chr19:48874678-48874678;G/C missense_variant False PPP1R15B@p.D509H 1 0.230769231 ENSG00000158615 chr1:204409887-204409887;C/G missense_variant False PTCH1@p.D46N 1 0.59375 ENSG00000185920 chr9:95508226-95508226;C/T missense_variant True PPP1R15B@p.D541N 1 0.310344828 ENSG00000158615 chr1:204409791-204409791;C/T missense_variant False PPP1R15B@p.E378K 1 0.202247191 ENSG00000158615 chr1:204410280-204410280;C/T missense_variant False PPP1R15B@p.E450K 1 0.171617162 ENSG00000158615 chr1:204410064-204410064;C/T missense_variant False PPP1R15B@p.E57D 1 0.18852459 ENSG00000158615 chr1:204411241-204411241;C/G missense_variant False PTCH1@p.A563T 1 0.421052632 ENSG00000185920 chr9:95476075-95476075;C/T missense_variant True PPP1R15B@p.R15W 1 0.11965812 ENSG00000158615 chr1:204411369-204411369;G/A missense_variant False PTCD3@p.S368L 1 0.241830065 ENSG00000132300 chr2:86127947-86127947;C/T missense_variant False PTCD3@p.Q129E 1 0.23255814 ENSG00000132300 chr2:86117130-86117130;C/G missense_variant False PPP1CB@p.I129M 1 0.319148936 ENSG00000213639 chr2:28779011-28779011;C/G missense_variant False PTCHD3@p.I744M 1 0.084745763 ENSG00000182077 chr10:27398366-27398366;G/C missense_variant False PPP1CB@p.D276H 1 0.313253012 ENSG00000213639 chr2:28793944-28793944;G/C missense_variant False PTDSS1@p.H408R 1 0.305084746 ENSG00000156471 chr8:96330262-96330262;A/G missense_variant False PTEN@p.E373K 1 0.34375 ENSG00000171862 chr10:87965377-87965377;G/A missense_variant True PPL@p.I787M 1 0.104633782 ENSG00000118898 chr16:4889014-4889014;G/C missense_variant False PPL@p.K824N 1 0.257425743 ENSG00000118898 chr16:4888144-4888144;C/G missense_variant False PPL@p.L212P 1 0.206896552 ENSG00000118898 chr16:4899356-4899356;A/G missense_variant False PTEN@p.E285Kfs*3 1 0.367346939 ENSG00000171862 chr10:87960943-87960952;AGGAAACCTC/- frameshift_variant True PPL@p.Q1517H 1 0.595744681 ENSG00000118898 chr16:4884104-4884104;C/G missense_variant False PTEN@p.A72V 1 0.333333333 ENSG00000171862 chr10:87931051-87931051;C/T missense_variant True PPL@p.Q965P 1 0.051282051 ENSG00000118898 chr16:4885761-4885761;T/G missense_variant False PTDSS2@p.R313C 1 0.169491525 ENSG00000174915 chr11:489482-489482;C/T missense_variant False PPL@p.R1079C 1 0.385964912 ENSG00000118898 chr16:4885420-4885420;G/A missense_variant False PPL@p.R1145H 1 0.127659574 ENSG00000118898 chr16:4885221-4885221;C/T missense_variant False PPL@p.R825K 1 0.490384615 ENSG00000118898 chr16:4888142-4888142;C/T missense_variant False PPL@p.T1304Pfs*8 1 0.207407407 ENSG00000118898 chr16:4884745-4884745;T/- frameshift_variant False PPL@p.Y1735C 1 0.416666667 ENSG00000118898 chr16:4883451-4883451;T/C missense_variant False PPM1A@p.D231N 1 0.302816901 ENSG00000100614 chr14:60283394-60283394;G/A missense_variant False PPM1A@p.E110K 1 0.057692308 ENSG00000100614 chr14:60283031-60283031;G/A missense_variant False PPM1A@p.E248K 1 0.172727273 ENSG00000100614 chr14:60283445-60283445;G/A missense_variant False PPM1A@p.K98R 1 0.278350515 ENSG00000100614 chr14:60282996-60282996;A/G missense_variant False PPM1A@p.S116L 1 0.096774194 ENSG00000100614 chr14:60283050-60283050;C/T missense_variant False PPM1A@p.S216L 1 0.325714286 ENSG00000100614 chr14:60283350-60283350;C/T missense_variant False PPM1B@p.D267N 1 0.244444444 ENSG00000138032 chr2:44201998-44201998;G/A missense_variant False PTDSS1@p.Y400C 1 0.310344828 ENSG00000156471 chr8:96330238-96330238;A/G missense_variant False PPM1B@p.G109E 1 0.306818182 ENSG00000138032 chr2:44201525-44201525;G/A missense_variant False PPM1B@p.I239V 1 0.392523364 ENSG00000138032 chr2:44201914-44201914;A/G missense_variant False PTDSS1@p.M23I 1 0.30952381 ENSG00000156471 chr8:96262109-96262109;G/C missense_variant False PPL@p.E1515Q 1 0.138461538 ENSG00000118898 chr16:4884112-4884112;C/G missense_variant False PTEN@p.E394K 1 0.279069767 ENSG00000171862 chr10:87965440-87965440;G/A missense_variant True PPL@p.E1378Q 1 0.171171171 ENSG00000118898 chr16:4884523-4884523;C/G missense_variant False PPIP5K2@p.S217N 1 0.483516484 ENSG00000145725 chr5:103147938-103147938;G/A missense_variant False PPIP5K1@p.E1345Q 1 0.285024155 ENSG00000168781 chr15:43534943-43534943;C/G missense_variant False PPIP5K1@p.E1419K 1 0.350282486 ENSG00000168781 chr15:43534721-43534721;C/T missense_variant False PPIP5K2@p.E192Q 1 0.375 ENSG00000145725 chr5:103146613-103146613;G/C missense_variant False PPIP5K2@p.G645R 1 0.137254902 ENSG00000145725 chr5:103167191-103167191;G/A missense_variant False PTF1A@p.E41Q 1 0.073170732 ENSG00000168267 chr10:23192651-23192651;G/C missense_variant False PPIP5K2@p.L1147F 1 0.316239316 ENSG00000145725 chr5:103190928-103190928;C/T missense_variant False PPIP5K2@p.L836F 1 0.333333333 ENSG00000145725 chr5:103173949-103173949;C/T missense_variant False PTF1A@p.D25Y 1 0.385542169 ENSG00000168267 chr10:23192603-23192603;G/T missense_variant False PTER@p.D273N 1 0.135135135 ENSG00000165983 chr10:16505138-16505138;G/A missense_variant False PPIP5K2@p.M601I 1 0.3 ENSG00000145725 chr5:103159211-103159211;G/C missense_variant False PPIP5K2@p.R1045I 1 0.421052632 ENSG00000145725 chr5:103184709-103184709;G/T missense_variant False PTEN@p.R335P 1 0.04587156 ENSG00000171862 chr10:87961096-87961096;G/C missense_variant True PTEN@p.H93R 1 0.352941176 ENSG00000171862 chr10:87933037-87933037;A/G missense_variant True PPIP5K2@p.S611F 1 0.0625 ENSG00000145725 chr5:103159240-103159240;C/T missense_variant False PPIP5K2@p.V196I 1 0.348314607 ENSG00000145725 chr5:103146625-103146625;G/A missense_variant False PTEN@p.R233Q 1 0.268656716 ENSG00000171862 chr10:87957916-87957916;G/A missense_variant True PPL@p.D1634N 1 0.490196078 ENSG00000118898 chr16:4883755-4883755;C/T missense_variant False PTEN@p.N372D 1 0.306451613 ENSG00000171862 chr10:87965374-87965374;A/G missense_variant True PPL@p.D943N 1 0.099206349 ENSG00000118898 chr16:4885828-4885828;C/T missense_variant False PTEN@p.M134I 1 0.072727273 ENSG00000171862 chr10:87933161-87933161;G/C missense_variant True PPL@p.E1127K 1 0.904761905 ENSG00000118898 chr16:4885276-4885276;C/T missense_variant False PTEN@p.L112P 1 0.56 ENSG00000171862 chr10:87933094-87933094;T/C missense_variant True PPL@p.E1290Q 1 0.239669421 ENSG00000118898 chr16:4884787-4884787;C/G missense_variant False PPL@p.E1317D 1 0.363095238 ENSG00000118898 chr16:4884704-4884704;C/G missense_variant False PPM1B@p.M399I 1 0.186915888 ENSG00000138032 chr2:44230475-44230475;G/A missense_variant False PPM1B@p.S199Ifs*8 1 0.538461538 ENSG00000138032 chr2:44201791-44201792;-/T frameshift_variant False PPP1CA@p.R246Q 1 0.141732283 ENSG00000172531 chr11:67398950-67398950;C/T missense_variant False PPM1D@p.E424Q 1 0.287671233 ENSG00000170836 chr17:60663004-60663004;G/C missense_variant False PPM1J@p.P473T 1 0.141176471 ENSG00000155367 chr1:112710264-112710264;G/T missense_variant False PPM1K@p.D290N 1 0.161016949 ENSG00000163644 chr4:88265120-88265120;C/T missense_variant False PPM1K@p.G128V 1 0.166666667 ENSG00000163644 chr4:88278201-88278201;C/A missense_variant False PTCHD4@p.E67Q 1 0.088235294 ENSG00000244694 chr6:48068457-48068457;C/G missense_variant False PPM1K@p.I75V 1 0.447761194 ENSG00000163644 chr4:88278361-88278361;T/C missense_variant False PPM1L@p.E24Q 1 0.477777778 ENSG00000163590 chr3:160756378-160756378;G/C missense_variant False PPM1L@p.E319K 1 0.560747664 ENSG00000163590 chr3:161069029-161069029;G/A missense_variant False PPM1L@p.R265Q 1 0.196428571 ENSG00000163590 chr3:161068868-161068868;G/A missense_variant False PTCHD3@p.Y327C 1 0.321917808 ENSG00000182077 chr10:27413271-27413271;T/C missense_variant False PPM1M@p.L119V 1 0.272727273 ENSG00000164088 chr3:52248377-52248377;C/G missense_variant False PPM1N@p.A185V 1 0.230769231 ENSG00000213889 chr19:45499026-45499026;C/T missense_variant False PPME1@p.S2W 1 0.163265306 ENSG00000214517 chr11:74171426-74171426;C/G missense_variant False PPOX@p.E265Q 1 0.276923077 ENSG00000143224 chr1:161169169-161169169;G/C missense_variant False PPOX@p.G111C 1 0.153846154 ENSG00000143224 chr1:161167479-161167479;G/T missense_variant False PPOX@p.Q238P 1 0.267857143 ENSG00000143224 chr1:161169089-161169089;A/C missense_variant False PPOX@p.R230C 1 0.458333333 ENSG00000143224 chr1:161169064-161169064;C/T missense_variant False PTCHD3@p.R589K 1 0.415584416 ENSG00000182077 chr10:27398832-27398832;C/T missense_variant False PPOX@p.S213L 1 0.214285714 ENSG00000143224 chr1:161169014-161169014;C/T missense_variant False PPP1CA@p.C39Y 1 0.126760563 ENSG00000172531 chr11:67401139-67401139;C/T missense_variant False PTCHD3@p.R544T 1 0.494186047 ENSG00000182077 chr10:27398967-27398967;C/G missense_variant False PPP1CA@p.D194N 1 0.24137931 ENSG00000172531 chr11:67399107-67399107;C/T missense_variant False PPP1CA@p.E126D 1 0.160377358 ENSG00000172531 chr11:67400729-67400729;C/G missense_variant False PPP1CA@p.F156L 1 0.2 ENSG00000172531 chr11:67399616-67399616;G/C missense_variant False PTCHD3@p.R323W 1 0.187943262 ENSG00000182077 chr10:27413284-27413284;G/A missense_variant False PPP1CA@p.R23W 1 0.223529412 ENSG00000172531 chr11:67401188-67401188;G/A missense_variant False PTCHD4@p.F810L 1 0.216494845 ENSG00000244694 chr6:47878414-47878414;G/T missense_variant False PTCHD4@p.H587R 1 0.204545455 ENSG00000244694 chr6:47879084-47879084;T/C missense_variant False PPM1J@p.E296Q 1 0.5 ENSG00000155367 chr1:112712012-112712012;C/G missense_variant False PPM1F@p.R232T 1 0.111111111 ENSG00000100034 chr22:21933443-21933443;C/G missense_variant False PPM1D@p.H596Y 1 0.126213592 ENSG00000170836 chr17:60663520-60663520;C/T missense_variant False PPM1D@p.R551T 1 0.495145631 ENSG00000170836 chr17:60663386-60663386;G/C missense_variant False PPM1D@p.S132L 1 0.189189189 ENSG00000170836 chr17:60600809-60600809;C/T missense_variant False PPM1E@p.D502H 1 0.252525253 ENSG00000175175 chr17:58980267-58980267;G/C missense_variant False PPM1E@p.E505D 1 0.449275362 ENSG00000175175 chr17:58980278-58980278;G/T missense_variant False PTDSS1@p.G289A 1 0.563451777 ENSG00000156471 chr8:96304153-96304153;G/C missense_variant False PPM1E@p.P302S 1 0.50877193 ENSG00000175175 chr17:58969659-58969659;C/T missense_variant False PPM1E@p.S179P 1 0.306306306 ENSG00000175175 chr17:58955719-58955719;T/C missense_variant False PTDSS1@p.G175A 1 0.086206897 ENSG00000156471 chr8:96295180-96295180;G/C missense_variant False PPM1E@p.S675L 1 0.186567164 ENSG00000175175 chr17:58980787-58980787;C/T missense_variant False PPM1F@p.G401V 1 0.505747126 ENSG00000100034 chr22:21923255-21923255;C/A missense_variant False PPM1G@p.D133V 1 0.330357143 ENSG00000115241 chr2:27385758-27385758;T/A missense_variant False PPM1J@p.D411H 1 0.409266409 ENSG00000155367 chr1:112710599-112710599;C/G missense_variant False PTDSS1@p.E124Q 1 0.162790698 ENSG00000156471 chr8:96287075-96287075;G/C missense_variant False PPM1G@p.D246Sfs*3 1 0.646153846 ENSG00000115241 chr2:27384756-27384769;GCTTGTCAGAGGCT/- frameshift_variant False PPM1G@p.E140Q 1 0.278350515 ENSG00000115241 chr2:27385080-27385080;C/G missense_variant False PPM1G@p.E261K 1 0.264248705 ENSG00000115241 chr2:27384717-27384717;C/T missense_variant False PPM1G@p.E369Q 1 0.164473684 ENSG00000115241 chr2:27383462-27383462;C/G missense_variant False PTDSS1@p.D35N 1 0.172839506 ENSG00000156471 chr8:96262143-96262143;G/A missense_variant False PTCHD4@p.L189I 1 0.218181818 ENSG00000244694 chr6:48008976-48008976;G/T missense_variant False PPM1G@p.E52K 1 0.375 ENSG00000115241 chr2:27387125-27387125;C/T missense_variant False PTCHD4@p.I603M 1 0.095238095 ENSG00000244694 chr6:47879035-47879035;G/C missense_variant False PPM1G@p.S473L 1 0.173913043 ENSG00000115241 chr2:27382142-27382142;G/A missense_variant False PPM1H@p.P196R 1 0.186666667 ENSG00000111110 chr12:62801985-62801985;G/C missense_variant False PSMB6@p.N62K 1 0.163043478 ENSG00000142507 chr17:4797453-4797453;T/A missense_variant False PSMA8@p.D68H 1 0.107526882 ENSG00000154611 chr18:26144658-26144658;G/C missense_variant False PSMB5@p.R245P 1 0.109756098 ENSG00000100804 chr14:23026147-23026147;C/G missense_variant False PRLHR@p.A307T 1 0.360655738 ENSG00000119973 chr10:118594326-118594326;C/T missense_variant False PRTG@p.P570L 1 0.25 ENSG00000166450 chr15:55673514-55673514;G/A missense_variant False PRTG@p.L773P 1 0.212121212 ENSG00000166450 chr15:55639648-55639648;A/G missense_variant False PRLR@p.D280N 1 0.107142857 ENSG00000113494 chr5:35068233-35068233;C/T missense_variant False PRLR@p.E169K 1 0.086956522 ENSG00000113494 chr5:35072613-35072613;C/T missense_variant False PRLR@p.V317L 1 0.088888889 ENSG00000113494 chr5:35066009-35066009;C/A missense_variant False PRTG@p.L289V 1 0.146341463 ENSG00000166450 chr15:55680162-55680162;G/C missense_variant False PRM1@p.R8S 1 0.56626506 ENSG00000175646 chr16:11281217-11281217;G/T missense_variant False PRM2@p.H52N 1 0.233009709 ENSG00000122304 chr16:11276217-11276217;G/T missense_variant False PRTG@p.H1131N 1 0.392857143 ENSG00000166450 chr15:55620074-55620074;G/T missense_variant False PRMT1@p.M66I 1 0.228571429 ENSG00000126457 chr19:49681915-49681915;G/T missense_variant False PRTG@p.E99Q 1 0.197802198 ENSG00000166450 chr15:55740484-55740484;C/G missense_variant False PRTG@p.E81Q 1 0.110599078 ENSG00000166450 chr15:55740538-55740538;C/G missense_variant False PRTG@p.A299V 1 0.264705882 ENSG00000166450 chr15:55680131-55680131;G/A missense_variant False PRMT3@p.M78I 1 0.0703125 ENSG00000185238 chr11:20389813-20389813;G/A missense_variant False PRMT5@p.E25K 1 0.5 ENSG00000100462 chr14:22929289-22929289;C/T missense_variant False PRTFDC1@p.R13P 1 0.5 ENSG00000099256 chr10:24952538-24952538;C/G missense_variant False PRMT5@p.H216Y 1 0.436619718 ENSG00000100462 chr14:22926264-22926264;G/A missense_variant False PRSS58@p.S74C 1 0.095238095 ENSG00000258223 chr7:142255270-142255270;G/C missense_variant False PRMT5@p.I332M 1 0.090909091 ENSG00000100462 chr14:22924653-22924653;G/C missense_variant False PRMT5@p.I341F 1 0.066666667 ENSG00000100462 chr14:22924534-22924534;T/A missense_variant False PRMT5@p.P48Q 1 0.230088496 ENSG00000100462 chr14:22928583-22928583;G/T missense_variant False PRMT6@p.E155Q 1 0.333333333 ENSG00000198890 chr1:107057178-107057178;G/C missense_variant False PRSS58@p.E112K 1 0.316666667 ENSG00000258223 chr7:142255157-142255157;C/T missense_variant False PRMT6@p.F253Gfs*169 1 0.4 ENSG00000198890 chr1:107057466-107057467;-/AGCGCGG frameshift_variant False PRMT6@p.G281D 1 0.388059701 ENSG00000198890 chr1:107057557-107057557;G/A missense_variant False PRLHR@p.A42V 1 0.066666667 ENSG00000119973 chr10:118595120-118595120;G/A missense_variant False PRL@p.R49C 1 0.1875 ENSG00000172179 chr6:22294468-22294468;G/A missense_variant False PRSS58@p.D167N 1 0.223880597 ENSG00000258223 chr7:142252549-142252549;C/T missense_variant False PRL@p.P30A 1 0.117647059 ENSG00000172179 chr6:22294525-22294525;G/C missense_variant False PRKG1@p.L505V 1 0.256410256 ENSG00000185532 chr10:52280898-52280898;C/G missense_variant False PRKG1@p.L586F 1 0.067567568 ENSG00000185532 chr10:52288774-52288774;G/C missense_variant False PRKG1@p.M579I 1 0.549450549 ENSG00000185532 chr10:52288753-52288753;G/A missense_variant False PRKG1@p.S51L 1 0.25 ENSG00000185532 chr10:51074742-51074742;C/T missense_variant False PRUNE1@p.P322A 1 0.328358209 ENSG00000143363 chr1:151033836-151033836;C/G missense_variant False PRKG2@p.A532D 1 0.264705882 ENSG00000138669 chr4:81137432-81137432;G/T missense_variant False PRUNE1@p.G397D 1 0.161073826 ENSG00000143363 chr1:151034062-151034062;G/A missense_variant False PRUNE1@p.F273L 1 0.134228188 ENSG00000143363 chr1:151028830-151028830;C/G missense_variant False PRKG2@p.D742H 1 0.5 ENSG00000138669 chr4:81089773-81089773;C/G missense_variant False PRKG2@p.E402K 1 0.097560976 ENSG00000138669 chr4:81144281-81144281;C/T missense_variant False PRUNE1@p.E123K 1 0.268656716 ENSG00000143363 chr1:151024642-151024642;G/A missense_variant False PRTN3@p.D217H 1 0.357142857 ENSG00000196415 chr19:847847-847847;G/C missense_variant False PRKG2@p.F555L 1 0.260273973 ENSG00000138669 chr4:81135266-81135266;G/C missense_variant False PRKG2@p.G652R 1 0.272727273 ENSG00000138669 chr4:81105922-81105922;C/T missense_variant False PRKG2@p.K288N 1 0.272727273 ENSG00000138669 chr4:81167209-81167209;C/A missense_variant False PRTN3@p.D164N 1 0.444444444 ENSG00000196415 chr19:846267-846267;G/A missense_variant False PRKG2@p.R27W 1 0.52173913 ENSG00000138669 chr4:81204969-81204969;G/A missense_variant False PRKG2@p.T322S 1 0.318181818 ENSG00000138669 chr4:81153669-81153669;G/C missense_variant False PRKN@p.V148L 1 0.192307692 ENSG00000185345 chr6:162201223-162201223;C/A missense_variant False PRKRA@p.H137N 1 0.174603175 ENSG00000180228 chr2:178443372-178443372;G/T missense_variant False PRKRA@p.H138N 1 0.15625 ENSG00000180228 chr2:178443369-178443369;G/T missense_variant False PRKRA@p.Y270F 1 0.090909091 ENSG00000180228 chr2:178432230-178432230;T/A missense_variant False PRTG@p.T645I 1 0.303030303 ENSG00000166450 chr15:55672552-55672552;G/A missense_variant False PRKRIP1@p.E78Q 1 0.122905028 ENSG00000128563 chr7:102399574-102399574;G/C missense_variant False PRKRIP1@p.P61A 1 0.6 ENSG00000128563 chr7:102397674-102397674;C/G missense_variant False PRMT7@p.D43N 1 0.191176471 ENSG00000132600 chr16:68321457-68321457;G/A missense_variant False PRMT7@p.E289Q 1 0.447368421 ENSG00000132600 chr16:68339906-68339906;G/C missense_variant False PRKG1@p.E35K 1 0.5 ENSG00000185532 chr10:50991481-50991481;G/A missense_variant False PROCA1@p.R144Q 1 0.172638436 ENSG00000167525 chr17:28704316-28704316;C/T missense_variant False PROCR@p.E59K 1 0.259259259 ENSG00000101000 chr20:35174806-35174806;G/A missense_variant False PRSS3@p.G119A 1 0.479452055 ENSG00000010438 chr9:33799116-33799116;G/C missense_variant False PRODH2@p.G257A 1 0.152941176 ENSG00000250799 chr19:35812017-35812017;C/G missense_variant False PRSS36@p.S818F 1 0.151898734 ENSG00000178226 chr16:31139253-31139253;G/A missense_variant False PRODH2@p.G381S 1 0.076923077 ENSG00000250799 chr19:35806518-35806518;C/T missense_variant False PRODH2@p.R146W 1 0.475 ENSG00000250799 chr19:35812523-35812523;G/A missense_variant False PROKR1@p.T188M 1 0.298245614 ENSG00000169618 chr2:68654957-68654957;C/T missense_variant False PROKR1@p.T304P 1 0.095238095 ENSG00000169618 chr2:68655304-68655304;A/C missense_variant False PROKR2@p.D152N 1 0.321428571 ENSG00000101292 chr20:5313916-5313916;C/T missense_variant False PROKR2@p.D366H 1 0.242857143 ENSG00000101292 chr20:5302099-5302099;C/G missense_variant False PROKR2@p.K201N 1 0.198113208 ENSG00000101292 chr20:5302592-5302592;C/G missense_variant False PROKR2@p.V177I 1 0.233128834 ENSG00000101292 chr20:5302666-5302666;C/T missense_variant False PROKR2@p.V55A 1 0.077777778 ENSG00000101292 chr20:5314206-5314206;A/G missense_variant False PROM1@p.L323V 1 0.357142857 ENSG00000007062 chr4:16018358-16018358;G/C missense_variant False PROM1@p.S293T 1 0.5 ENSG00000007062 chr4:16018447-16018447;C/G missense_variant False PROM1@p.T43P 1 1.0 ENSG00000007062 chr4:16075780-16075780;T/G missense_variant False PROM2@p.R810L 1 0.203703704 ENSG00000155066 chr2:95288577-95288577;G/T missense_variant False PROM2@p.T142K 1 0.181818182 ENSG00000155066 chr2:95276060-95276060;C/A missense_variant False PRORP@p.E101K 1 0.790697674 ENSG00000100890 chr14:35123546-35123546;G/A missense_variant False PRORP@p.E122Q 1 0.5 ENSG00000100890 chr14:35123609-35123609;G/C missense_variant False PRSS36@p.S510W 1 0.423728814 ENSG00000178226 chr16:31141953-31141953;G/C missense_variant False PRORP@p.G289Efs*4 1 0.215686275 ENSG00000100890 chr14:35124110-35124110;G/- frameshift_variant False PRSS36@p.S243F 1 0.303030303 ENSG00000178226 chr16:31143830-31143830;G/A missense_variant False PRORP@p.I144V 1 0.12 ENSG00000100890 chr14:35123675-35123675;A/G missense_variant False PROS1@p.D333N 1 0.128205128 ENSG00000184500 chr3:93893091-93893091;C/T missense_variant False PROCA1@p.V158L 1 0.381818182 ENSG00000167525 chr17:28704181-28704181;C/A missense_variant False PROCA1@p.P356T 1 0.138554217 ENSG00000167525 chr17:28703587-28703587;G/T missense_variant False PRMT7@p.E562Q 1 0.55 ENSG00000132600 chr16:68355756-68355756;G/C missense_variant False PROCA1@p.E174K 1 0.279069767 ENSG00000167525 chr17:28704133-28704133;C/T missense_variant False PRMT7@p.G380A 1 0.432 ENSG00000132600 chr16:68346228-68346228;G/C missense_variant False PRMT7@p.N9S 1 0.222222222 ENSG00000132600 chr16:68316005-68316005;A/G missense_variant False PRMT7@p.S264T 1 0.887640449 ENSG00000132600 chr16:68339832-68339832;G/C missense_variant False PRSS57@p.Q101K 1 0.409090909 ENSG00000185198 chr19:691938-691938;G/T missense_variant False PRSS54@p.P54T 1 0.297297297 ENSG00000103023 chr16:58291062-58291062;G/T missense_variant False PRMT7@p.Y391Pfs*54 1 0.184210526 ENSG00000132600 chr16:68346257-68346261;CGATA/- frameshift_variant False PRSS54@p.E348K 1 0.258064516 ENSG00000103023 chr16:58280370-58280370;C/T missense_variant False PRMT8@p.E93K 1 0.296116505 ENSG00000111218 chr12:3549951-3549951;G/A missense_variant False PRMT8@p.G59S 1 0.192513369 ENSG00000111218 chr12:3540705-3540705;G/A missense_variant False PRMT8@p.I313V 1 0.192307692 ENSG00000111218 chr12:3583166-3583166;A/G missense_variant False PRSS54@p.D42Y 1 0.133333333 ENSG00000103023 chr16:58291098-58291098;C/A missense_variant False PRMT8@p.Q52E 1 0.131336406 ENSG00000111218 chr12:3540684-3540684;C/G missense_variant False PRMT9@p.E268Q 1 0.146067416 ENSG00000164169 chr4:147670685-147670685;C/G missense_variant False PRMT9@p.P550A 1 0.23880597 ENSG00000164169 chr4:147654249-147654249;G/C missense_variant False PRSS48@p.L272V 1 0.128378378 ENSG00000189099 chr4:151291280-151291280;C/G missense_variant False PRSS48@p.G89D 1 0.07106599 ENSG00000189099 chr4:151282198-151282198;G/A missense_variant False PRSS48@p.D208Y 1 0.212962963 ENSG00000189099 chr4:151283257-151283257;G/T missense_variant False PRMT9@p.Q507E 1 0.268907563 ENSG00000164169 chr4:147654378-147654378;G/C missense_variant False PRSS45P@p.S260F 1 0.052631579 ENSG00000188086 chr3:46742354-46742354;G/A missense_variant False PRND@p.E53K 1 0.285714286 ENSG00000171864 chr20:4724708-4724708;G/A missense_variant False PRND@p.P123S 1 0.471428571 ENSG00000171864 chr20:4724918-4724918;C/T missense_variant False PRNP@p.E146Q 1 0.210526316 ENSG00000171867 chr20:4699656-4699656;G/C missense_variant False PROC@p.E48Q 1 0.103448276 ENSG00000115718 chr2:127421354-127421354;G/C missense_variant False PRSS45P@p.R150G 1 0.142857143 ENSG00000188086 chr3:46743014-46743014;T/C missense_variant False PROC@p.K259N 1 0.393258427 ENSG00000115718 chr2:127427203-127427203;G/T missense_variant False PRKG1@p.I25M 1 0.4 ENSG00000185532 chr10:51074665-51074665;C/G missense_variant False PRKG1@p.E253K 1 0.306818182 ENSG00000185532 chr10:51907565-51907565;G/A missense_variant False PRAMEF12@p.G174D 1 0.125748503 ENSG00000116726 chr1:12775776-12775776;G/A missense_variant False PRKCI@p.M341I 1 0.377697842 ENSG00000163558 chr3:170281924-170281924;G/T missense_variant False PRKCI@p.S591C 1 0.166666667 ENSG00000163558 chr3:170303108-170303108;C/G missense_variant False PRX@p.E947K 1 0.17721519 ENSG00000105227 chr19:40395513-40395513;C/T missense_variant False PRKCI@p.T276Nfs*16 1 0.266666667 ENSG00000163558 chr3:170280339-170280340;-/A frameshift_variant False PRX@p.E886Q 1 0.197530864 ENSG00000105227 chr19:40395696-40395696;C/G missense_variant False PRX@p.E822K 1 0.382022472 ENSG00000105227 chr19:40395888-40395888;C/T missense_variant False PRKCQ@p.E619Q 1 0.238095238 ENSG00000065675 chr10:6430920-6430920;C/G missense_variant False PRX@p.E813Q 1 0.185185185 ENSG00000105227 chr19:40395915-40395915;C/G missense_variant False PRKCQ@p.G319D 1 0.546448087 ENSG00000065675 chr10:6485214-6485214;C/T missense_variant False PRX@p.E726Q 1 0.216216216 ENSG00000105227 chr19:40396176-40396176;C/G missense_variant False PRKCQ@p.M131I 1 0.34 ENSG00000065675 chr10:6498545-6498545;C/A missense_variant False PRKCQ@p.P653L 1 0.260869565 ENSG00000065675 chr10:6430817-6430817;G/A missense_variant False PRKCQ@p.S433Y 1 0.1 ENSG00000065675 chr10:6479047-6479047;G/T missense_variant False PRX@p.E592Q 1 0.2375 ENSG00000105227 chr19:40396578-40396578;C/G missense_variant False PRX@p.E475K 1 0.382716049 ENSG00000105227 chr19:40396929-40396929;C/T missense_variant False PRX@p.E343K 1 0.375 ENSG00000105227 chr19:40397325-40397325;C/T missense_variant False PRKCSH@p.E184Q 1 0.444444444 ENSG00000130175 chr19:11442467-11442467;G/C missense_variant False PRKCSH@p.Q195H 1 0.5 ENSG00000130175 chr19:11442502-11442502;G/C missense_variant False PRKCSH@p.S310L 1 0.152173913 ENSG00000130175 chr19:11447518-11447518;C/T missense_variant False PRKCZ@p.E443Q 1 0.382165605 ENSG00000067606 chr1:2173938-2173938;G/C missense_variant False PRKCZ@p.F80S 1 0.1375 ENSG00000067606 chr1:2056529-2056529;T/C missense_variant False PRKCZ@p.R81L 1 0.183673469 ENSG00000067606 chr1:2056532-2056532;G/T missense_variant False PRKD1@p.D788N 1 0.465648855 ENSG00000184304 chr14:29597563-29597563;C/T missense_variant False PRKD1@p.E323K 1 0.07 ENSG00000184304 chr14:29638507-29638507;C/T missense_variant False PRKD1@p.E660K 1 0.47706422 ENSG00000184304 chr14:29599745-29599745;C/T missense_variant False PRKD1@p.E753G 1 0.23655914 ENSG00000184304 chr14:29597667-29597667;T/C missense_variant False PRKCI@p.R426T 1 0.162790698 ENSG00000163558 chr3:170291927-170291927;G/C missense_variant False PRKCI@p.G338E 1 0.212903226 ENSG00000163558 chr3:170281914-170281914;G/A missense_variant False PRKD1@p.M364I 1 0.106741573 ENSG00000184304 chr14:29636388-29636388;C/A missense_variant False PRKCI@p.E302Q 1 0.151898734 ENSG00000163558 chr3:170281187-170281187;G/C missense_variant False PRKCD@p.E79K 1 0.128205128 ENSG00000163932 chr3:53179696-53179696;G/A missense_variant False PRKCD@p.F233L 1 0.286956522 ENSG00000163932 chr3:53183493-53183493;C/G missense_variant False PRKCD@p.I282M 1 0.602941176 ENSG00000163932 chr3:53184932-53184932;C/G missense_variant False PRX@p.P743H 1 0.099526066 ENSG00000105227 chr19:40396124-40396124;G/T missense_variant False PRX@p.L444I 1 0.229268293 ENSG00000105227 chr19:40397022-40397022;G/T missense_variant False PRKCD@p.L14M 1 0.2 ENSG00000163932 chr3:53178462-53178462;C/A missense_variant False PRKCD@p.V174L 1 0.2375 ENSG00000163932 chr3:53181587-53181587;G/T missense_variant False PRKCE@p.D305Y 1 0.571428571 ENSG00000171132 chr2:46001493-46001493;G/T missense_variant False PRX@p.H846Y 1 0.086021505 ENSG00000105227 chr19:40395816-40395816;G/A missense_variant False PRX@p.G348V 1 0.142857143 ENSG00000105227 chr19:40397309-40397309;C/A missense_variant False PRKCE@p.D610N 1 0.217391304 ENSG00000171132 chr2:46151137-46151137;G/A missense_variant False PRKCE@p.E706Q 1 0.241935484 ENSG00000171132 chr2:46184783-46184783;G/C missense_variant False PRKCG@p.C305F 1 0.180555556 ENSG00000126583 chr19:53893366-53893366;G/T missense_variant False PRKCG@p.E454K 1 0.272727273 ENSG00000126583 chr19:53900311-53900311;G/A missense_variant False PRKCG@p.F680L 1 0.06185567 ENSG00000126583 chr19:53906841-53906841;C/A missense_variant False PRKCG@p.P15S 1 0.153846154 ENSG00000126583 chr19:53882537-53882537;C/T missense_variant False PRKCG@p.V506I 1 0.618181818 ENSG00000126583 chr19:53900690-53900690;G/A missense_variant False PRKCH@p.D580H 1 0.436363636 ENSG00000027075 chr14:61530572-61530572;G/C missense_variant False PRKCH@p.E570K 1 0.183333333 ENSG00000027075 chr14:61530542-61530542;G/A missense_variant False PRKCH@p.E579K 1 0.172839506 ENSG00000027075 chr14:61530569-61530569;G/A missense_variant False PRKCH@p.K384Tfs*2 1 0.364341085 ENSG00000027075 chr14:61457550-61457565;GAAGGTGCTGAAGAAG/- frameshift_variant False PRKCH@p.L136I 1 0.295454545 ENSG00000027075 chr14:61391267-61391267;C/A missense_variant False PRKCI@p.D297N 1 0.298850575 ENSG00000163558 chr3:170281172-170281172;G/A missense_variant False PRX@p.G1027R 1 0.189781022 ENSG00000105227 chr19:40395273-40395273;C/T missense_variant False PRKCI@p.E111Q 1 0.283018868 ENSG00000163558 chr3:170263396-170263396;G/C missense_variant False PRKD1@p.L820P 1 0.314814815 ENSG00000184304 chr14:29578336-29578336;A/G missense_variant False PRKD1@p.R732Q 1 0.265625 ENSG00000184304 chr14:29597730-29597730;C/T missense_variant False PRKG1@p.D517Y 1 0.28 ENSG00000185532 chr10:52282156-52282156;G/T missense_variant False PRUNE2@p.D1061N 1 0.446280992 ENSG00000106772 chr9:76709093-76709093;C/T missense_variant False PRKDC@p.E2578K 1 0.260869565 ENSG00000253729 chr8:47837241-47837241;C/T missense_variant False PRKDC@p.E2985K 1 0.75 ENSG00000253729 chr8:47821762-47821762;C/T missense_variant False PRKDC@p.E3140K 1 0.158730159 ENSG00000253729 chr8:47819429-47819429;C/T missense_variant False PRUNE2@p.A499T 1 0.25 ENSG00000106772 chr9:76710779-76710779;C/T missense_variant False PRKDC@p.F2045I 1 0.6 ENSG00000253729 chr8:47859685-47859685;A/T missense_variant False PRKDC@p.F234L 1 0.352941176 ENSG00000253729 chr8:47953639-47953639;G/T missense_variant False PRKDC@p.G1387V 1 0.265822785 ENSG00000253729 chr8:47889134-47889134;C/A missense_variant False PRKDC@p.G2134R 1 0.428571429 ENSG00000253729 chr8:47858581-47858581;C/T missense_variant False PRKDC@p.G3978S 1 0.106060606 ENSG00000253729 chr8:47777796-47777796;C/T missense_variant False PRUNE1@p.V306M 1 0.214285714 ENSG00000143363 chr1:151028927-151028927;G/A missense_variant False PRKDC@p.L2897V 1 0.307692308 ENSG00000253729 chr8:47826750-47826750;G/C missense_variant False PRKDC@p.L3200V 1 0.159509202 ENSG00000253729 chr8:47807286-47807286;G/C missense_variant False PRUNE1@p.S347F 1 0.36036036 ENSG00000143363 chr1:151033912-151033912;C/T missense_variant False PRKDC@p.M2379I 1 0.091954023 ENSG00000253729 chr8:47849297-47849297;C/A missense_variant False PRKDC@p.M3240I 1 0.139534884 ENSG00000253729 chr8:47807164-47807164;C/T missense_variant False PRKDC@p.P2136S 1 0.454545455 ENSG00000253729 chr8:47858575-47858575;G/A missense_variant False PRKDC@p.R3965C 1 0.16091954 ENSG00000253729 chr8:47777835-47777835;G/A missense_variant False PRKDC@p.R782K 1 0.166666667 ENSG00000253729 chr8:47927268-47927268;C/T missense_variant False PRKDC@p.S1333R 1 0.206896552 ENSG00000253729 chr8:47890329-47890329;G/T missense_variant False PRKDC@p.S210L 1 0.5 ENSG00000253729 chr8:47953712-47953712;G/A missense_variant False PRKDC@p.S2626L 1 0.222222222 ENSG00000253729 chr8:47836412-47836412;G/A missense_variant False PRKDC@p.S450I 1 0.112244898 ENSG00000253729 chr8:47935830-47935830;C/A missense_variant False PRUNE1@p.R66L 1 0.563636364 ENSG00000143363 chr1:151018531-151018531;G/T missense_variant False PRKDC@p.T2723P 1 0.185483871 ENSG00000253729 chr8:47831912-47831912;T/G missense_variant False PRKDC@p.Y984C 1 0.46 ENSG00000253729 chr8:47904960-47904960;T/C missense_variant False PRKDC@p.D2058N 1 0.125 ENSG00000253729 chr8:47859646-47859646;C/T missense_variant False PRUNE2@p.D1712N 1 0.117647059 ENSG00000106772 chr9:76707140-76707140;C/T missense_variant False PRKD1@p.S223C 1 0.497607656 ENSG00000184304 chr14:29663727-29663727;G/C missense_variant False PRKDC@p.D1630N 1 0.524590164 ENSG00000253729 chr8:47881986-47881986;C/T missense_variant False PRKD1@p.T138S 1 0.845070423 ENSG00000184304 chr14:29666199-29666199;G/C missense_variant False PRX@p.E1263Q 1 0.243243243 ENSG00000105227 chr19:40394565-40394565;C/G missense_variant False PRKD2@p.E363K 1 0.506024096 ENSG00000105287 chr19:46700833-46700833;C/T missense_variant False PRKD2@p.E592D 1 0.4 ENSG00000105287 chr19:46690633-46690633;C/G missense_variant False PRKD2@p.I784M 1 1.0 ENSG00000105287 chr19:46675105-46675105;G/C missense_variant False PRX@p.D999H 1 0.181318681 ENSG00000105227 chr19:40395357-40395357;C/G missense_variant False PRX@p.D990N 1 0.464285714 ENSG00000105227 chr19:40395384-40395384;C/T missense_variant False PRUNE2@p.S2866P 1 0.416666667 ENSG00000106772 chr9:76644871-76644871;A/G missense_variant False PRKD2@p.S206L 1 0.305882353 ENSG00000105287 chr19:46704544-46704544;G/A missense_variant False PRKD2@p.T502I 1 0.2 ENSG00000105287 chr19:46693946-46693946;G/A missense_variant False PRKD3@p.D720N 1 0.075757576 ENSG00000115825 chr2:37256917-37256917;C/T missense_variant False PRUNE2@p.S223T 1 0.111111111 ENSG00000106772 chr9:76823720-76823720;C/G missense_variant False PRKD3@p.E646K 1 0.225806452 ENSG00000115825 chr2:37260333-37260333;C/T missense_variant False PRKD3@p.E71D 1 0.449367089 ENSG00000115825 chr2:37316312-37316312;C/A missense_variant False PRKD3@p.K209N 1 0.321428571 ENSG00000115825 chr2:37289446-37289446;C/G missense_variant False PRUNE2@p.S2038C 1 0.227272727 ENSG00000106772 chr9:76706161-76706161;G/C missense_variant False PRUNE2@p.S2023Y 1 0.481481481 ENSG00000106772 chr9:76706206-76706206;G/T missense_variant False PRUNE2@p.M644T 1 0.062893082 ENSG00000106772 chr9:76710343-76710343;A/G missense_variant False PRKD3@p.L827F 1 0.415384615 ENSG00000115825 chr2:37254224-37254224;G/A missense_variant False PRKD3@p.M662I 1 0.178217822 ENSG00000115825 chr2:37260283-37260283;C/G missense_variant False PRKD3@p.P714S 1 0.063829787 ENSG00000115825 chr2:37259588-37259588;G/A missense_variant False PRUNE2@p.E1999K 1 0.360655738 ENSG00000106772 chr9:76706279-76706279;C/T missense_variant False PRKD3@p.R674Q 1 0.447368421 ENSG00000115825 chr2:37260248-37260248;C/T missense_variant False PRKDC@p.A2882T 1 0.266666667 ENSG00000253729 chr8:47826795-47826795;C/T missense_variant False PRUNE2@p.E182D 1 0.454545455 ENSG00000106772 chr9:76826695-76826695;C/A missense_variant False PROS1@p.E61K 1 0.296296296 ENSG00000184500 chr3:93927303-93927303;C/T missense_variant False PRSS36@p.Q339L 1 0.13559322 ENSG00000178226 chr16:31143426-31143426;T/A missense_variant False PROS1@p.E77K 1 0.076923077 ENSG00000184500 chr3:93927255-93927255;C/T missense_variant False PRRC2C@p.R1188T 1 0.268292683 ENSG00000117523 chr1:171541029-171541029;G/C missense_variant False PRPSAP2@p.E327K 1 0.333333333 ENSG00000141127 chr17:18930567-18930567;G/A missense_variant False PRRC2C@p.Q1032H 1 0.2 ENSG00000117523 chr1:171540562-171540562;G/C missense_variant False PRR11@p.F337L 1 0.494252874 ENSG00000068489 chr17:59197786-59197786;T/G missense_variant False PRR11@p.V162I 1 0.428571429 ENSG00000068489 chr17:59193573-59193573;G/A missense_variant False PRR12@p.P485A 1 0.227272727 ENSG00000126464 chr19:49599509-49599509;C/G missense_variant False PRR12@p.Q786K 1 0.764705882 ENSG00000126464 chr19:49614578-49614578;C/A missense_variant False PRR12@p.S305C 1 0.296296296 ENSG00000126464 chr19:49597712-49597712;C/G missense_variant False PRR13@p.S142F 1 0.303571429 ENSG00000205352 chr12:53446037-53446037;C/T missense_variant False PRR14@p.D212H 1 0.241176471 ENSG00000156858 chr16:30654315-30654315;G/C missense_variant False PRRC2C@p.N1008T 1 0.260869565 ENSG00000117523 chr1:171540489-171540489;A/C missense_variant False PRR14@p.L509* 1 0.244186047 ENSG00000156858 chr16:30656078-30656078;C/- frameshift_variant False PRR14@p.R445L 1 0.333333333 ENSG00000156858 chr16:30655521-30655521;G/T missense_variant False PRRC2C@p.L65V 1 0.266666667 ENSG00000117523 chr1:171513075-171513075;C/G missense_variant False PRR16@p.D69N 1 0.172413793 ENSG00000184838 chr5:120685999-120685999;G/A missense_variant False PRR16@p.E16K 1 0.6 ENSG00000184838 chr5:120464532-120464532;G/A missense_variant False PRR16@p.H271L 1 0.205882353 ENSG00000184838 chr5:120686606-120686606;A/T missense_variant False PRR16@p.R128S 1 0.114754098 ENSG00000184838 chr5:120686178-120686178;G/T missense_variant False PRRC2C@p.L1060F 1 0.74301676 ENSG00000117523 chr1:171540644-171540644;C/T missense_variant False PRRC2C@p.K1163T 1 0.111111111 ENSG00000117523 chr1:171540954-171540954;A/C missense_variant False PRR16@p.S111C 1 0.174603175 ENSG00000184838 chr5:120686126-120686126;C/G missense_variant False PRRC2C@p.G1186V 1 0.162790698 ENSG00000117523 chr1:171541023-171541023;G/T missense_variant False PRR22@p.R276I 1 0.305555556 ENSG00000212123 chr19:5783420-5783420;C/A missense_variant False PRR23B@p.D74E 1 0.5 ENSG00000184814 chr3:139020440-139020440;G/T missense_variant False PRRC2C@p.E95Q 1 0.212121212 ENSG00000117523 chr1:171513165-171513165;G/C missense_variant False PRRC2C@p.E867Q 1 0.162280702 ENSG00000117523 chr1:171540065-171540065;G/C missense_variant False PRRC2C@p.Q1966E 1 0.526315789 ENSG00000117523 chr1:171558008-171558008;C/G missense_variant False PRRC2C@p.R2721I 1 0.144230769 ENSG00000117523 chr1:171588468-171588468;G/T missense_variant False PRR23B@p.R247C 1 0.114285714 ENSG00000184814 chr3:139019923-139019923;G/A missense_variant False PRRC2C@p.S1091L 1 0.625 ENSG00000117523 chr1:171540738-171540738;C/T missense_variant False PRPF8@p.S1756F 1 0.265625 ENSG00000174231 chr17:1658635-1658635;G/A missense_variant False PRPF8@p.T1613K 1 0.1 ENSG00000174231 chr17:1659949-1659949;G/T missense_variant False PRPH2@p.K153N 1 0.301587302 ENSG00000112619 chr6:42721876-42721876;C/A missense_variant False PRRG4@p.E41A 1 0.73964497 ENSG00000135378 chr11:32836676-32836676;A/C missense_variant False PRPH2@p.L134I 1 0.43373494 ENSG00000112619 chr6:42721935-42721935;G/T missense_variant False PRPH2@p.L64F 1 0.52 ENSG00000112619 chr6:42722143-42722143;C/G missense_variant False PRPH@p.E84K 1 0.352941176 ENSG00000135406 chr12:49295450-49295450;G/A missense_variant False PRRG4@p.E182Q 1 0.3125 ENSG00000135378 chr11:32853390-32853390;G/C missense_variant False PRPH@p.R366P 1 0.4 ENSG00000135406 chr12:49297457-49297457;G/C missense_variant False PRPH@p.S413C 1 0.583333333 ENSG00000135406 chr12:49297697-49297697;C/G missense_variant False PRPH@p.S53F 1 0.357142857 ENSG00000135406 chr12:49295358-49295358;C/T missense_variant False PRPS1@p.S16Y 1 0.983870968 ENSG00000147224 chrX:107628675-107628675;C/A missense_variant False PRRG3@p.R124H 1 0.168316832 ENSG00000130032 chrX:151700708-151700708;G/A missense_variant False PRPS1@p.V316F 1 0.317460317 ENSG00000147224 chrX:107650021-107650021;G/T missense_variant False PRPS1L1@p.E201K 1 0.152866242 ENSG00000229937 chr7:18027182-18027182;C/T missense_variant False PRRG2@p.R49T 1 0.59375 ENSG00000126460 chr19:49583602-49583602;G/C missense_variant False PRRG2@p.L7V 1 0.176470588 ENSG00000126460 chr19:49583238-49583238;C/G missense_variant False PRPS1L1@p.K18E 1 0.224637681 ENSG00000229937 chr7:18027731-18027731;T/C missense_variant False PRPS1L1@p.Q133R 1 0.103658537 ENSG00000229937 chr7:18027385-18027385;T/C missense_variant False PRPS1L1@p.T32A 1 0.213541667 ENSG00000229937 chr7:18027689-18027689;T/C missense_variant False PRRG2@p.E76K 1 0.304347826 ENSG00000126460 chr19:49583682-49583682;G/A missense_variant False PRPS2@p.G209C 1 0.582474227 ENSG00000101911 chrX:12819601-12819601;G/T missense_variant False PRPSAP1@p.R379Q 1 0.224489796 ENSG00000161542 chr17:76311564-76311564;C/T missense_variant False PRPSAP2@p.E242Q 1 0.287671233 ENSG00000141127 chr17:18911242-18911242;G/C missense_variant False PRRC2C@p.V2155A 1 0.409090909 ENSG00000117523 chr1:171566749-171566749;T/C missense_variant False PRR23B@p.E153K 1 0.231884058 ENSG00000184814 chr3:139020205-139020205;C/T missense_variant False PRR23B@p.S210Y 1 0.46835443 ENSG00000184814 chr3:139020033-139020033;G/T missense_variant False PRSS36@p.P161S 1 0.545454545 ENSG00000178226 chr16:31148467-31148467;G/A missense_variant False PRRC1@p.S57F 1 0.409482759 ENSG00000164244 chr5:127524597-127524597;C/T missense_variant False PRRC2A@p.D1985E 1 0.43697479 ENSG00000204469 chr6:31636753-31636753;C/G missense_variant False PRRC2A@p.E1095K 1 0.161290323 ENSG00000204469 chr6:31631956-31631956;G/A missense_variant False PRRC2A@p.E1265D 1 0.122641509 ENSG00000204469 chr6:31632468-31632468;G/C missense_variant False PRRC2B@p.L995V 1 0.222222222 ENSG00000288701 chr9:131475112-131475112;C/G missense_variant False PRRC2A@p.E1444Q 1 0.173913043 ENSG00000204469 chr6:31633389-31633389;G/C missense_variant False PRRC2A@p.E1800K 1 0.275510204 ENSG00000204469 chr6:31635606-31635606;G/A missense_variant False PRRC2A@p.E400K 1 0.206896552 ENSG00000204469 chr6:31627106-31627106;G/A missense_variant False PRRC2A@p.E473K 1 0.179856115 ENSG00000204469 chr6:31627891-31627891;G/A missense_variant False PRRC2B@p.L1162Rfs*8 1 0.114285714 ENSG00000288701 chr9:131475614-131475614;T/- frameshift_variant False PRRC2A@p.G1360A 1 0.625 ENSG00000204469 chr6:31632752-31632752;G/C missense_variant False PRRC2A@p.L2034R 1 0.125 ENSG00000204469 chr6:31636899-31636899;T/G missense_variant False PRRC2A@p.P1354A 1 0.196721311 ENSG00000204469 chr6:31632733-31632733;C/G missense_variant False PRRC2A@p.P693T 1 0.388059701 ENSG00000204469 chr6:31629668-31629668;C/A missense_variant False PRRC2A@p.P755S 1 0.282608696 ENSG00000204469 chr6:31630599-31630599;C/T missense_variant False PRRC2A@p.Q1375H 1 0.1829653 ENSG00000204469 chr6:31632798-31632798;G/C missense_variant False PRRC2A@p.S1106L 1 0.385542169 ENSG00000204469 chr6:31631990-31631990;C/T missense_variant False PRRC2A@p.S1282Y 1 0.194029851 ENSG00000204469 chr6:31632518-31632518;C/A missense_variant False PRRC2A@p.S1587_G1591del 1 0.14893617 ENSG00000204469 chr6:31634271-31634285;GGGCTCTAAGCCTGA/- inframe_deletion False PRRC2A@p.S1691L 1 0.253012048 ENSG00000204469 chr6:31634889-31634889;C/T missense_variant False PRRC2A@p.S1926C 1 0.114583333 ENSG00000204469 chr6:31636361-31636361;C/G missense_variant False PRRC2A@p.S77L 1 0.195488722 ENSG00000204469 chr6:31623849-31623849;C/T missense_variant False PRRC2B@p.L1144Gfs*21 1 0.222222222 ENSG00000288701 chr9:131475559-131475574;CTTCCCAAGCGCCGCC/- frameshift_variant False PRRC2B@p.A52T 1 0.226666667 ENSG00000288701 chr9:131432655-131432655;G/A missense_variant False PRRC2B@p.H700Y 1 0.333333333 ENSG00000288701 chr9:131470974-131470974;C/T missense_variant False PRRC2B@p.C726R 1 0.148148148 ENSG00000288701 chr9:131473576-131473576;T/C missense_variant False PRRC1@p.T88Nfs*17 1 0.339506173 ENSG00000164244 chr5:127524688-127524689;-/A frameshift_variant False PRRC2B@p.P2021T 1 0.189189189 ENSG00000288701 chr9:131487932-131487932;C/A missense_variant False PRR27@p.E157Q 1 0.41025641 ENSG00000187533 chr4:70158721-70158721;G/C missense_variant False PRRC1@p.L121Yfs*34 1 0.198529412 ENSG00000164244 chr5:127524786-127524786;T/- frameshift_variant False PRR27@p.P73T 1 0.227848101 ENSG00000187533 chr4:70158469-70158469;C/A missense_variant False PRR30@p.H235N 1 0.206349206 ENSG00000186143 chr2:27137627-27137627;G/T missense_variant False PRR35@p.M56I 1 0.326530612 ENSG00000161992 chr16:563462-563462;G/A missense_variant False PRRC2C@p.D444H 1 0.261904762 ENSG00000117523 chr1:171532418-171532418;G/C missense_variant False PRR35@p.P30R 1 0.52 ENSG00000161992 chr16:563383-563383;C/G missense_variant False PRRC2C@p.D1681N 1 0.333333333 ENSG00000117523 chr1:171550154-171550154;G/A missense_variant False PRR35@p.P83L 1 0.15625 ENSG00000161992 chr16:563542-563542;C/T missense_variant False PRR5-ARHGAP8@p.H305Y 1 0.117647059 ENSG00000248405 chr22:44802148-44802148;C/T missense_variant False PRR5-ARHGAP8@p.L499V 1 0.486338798 ENSG00000248405 chr22:44849048-44849048;C/G missense_variant False PRR5@p.E267Q 1 0.166666667 ENSG00000186654 chr22:44736879-44736879;G/C missense_variant False PRR5@p.E78Q 1 0.215686275 ENSG00000186654 chr22:44725260-44725260;G/C missense_variant False PRR5@p.M96L 1 0.590909091 ENSG00000186654 chr22:44726598-44726598;A/T missense_variant False PRR5@p.Q385H 1 0.285714286 ENSG00000186654 chr22:44737235-44737235;G/T missense_variant False PRR5@p.R191K 1 0.095890411 ENSG00000186654 chr22:44735043-44735043;G/A missense_variant False PRR5@p.R321T 1 0.52 ENSG00000186654 chr22:44737042-44737042;G/C missense_variant False PRR5@p.V263M 1 0.146341463 ENSG00000186654 chr22:44736867-44736867;G/A missense_variant False PRR5L@p.F92L 1 0.358208955 ENSG00000135362 chr11:36419285-36419285;C/A missense_variant False PRRC2B@p.R233T 1 0.196078431 ENSG00000288701 chr9:131446485-131446485;G/C missense_variant False PRRC2B@p.R1317W 1 0.093457944 ENSG00000288701 chr9:131476078-131476078;C/T missense_variant False PRRC2B@p.R1061K 1 0.166666667 ENSG00000288701 chr9:131475311-131475311;G/A missense_variant False PRR7@p.E195K 1 0.344827586 ENSG00000131188 chr5:177455879-177455879;G/A missense_variant False PRR7@p.F14L 1 0.126984127 ENSG00000131188 chr5:177455109-177455109;C/G missense_variant False PRR7@p.P227S 1 0.583333333 ENSG00000131188 chr5:177455975-177455975;C/T missense_variant False PRRC1@p.C348Wfs*12 1 0.402298851 ENSG00000164244 chr5:127547834-127547837;TTGT/- frameshift_variant False PRRC1@p.E267Q 1 0.651515152 ENSG00000164244 chr5:127533664-127533664;G/C missense_variant False PRRG4@p.E58Q 1 0.176470588 ENSG00000135378 chr11:32836726-32836726;G/C missense_variant False PRPF8@p.S1382C 1 0.877192982 ENSG00000174231 chr17:1661668-1661668;G/C missense_variant False PRPF8@p.R934C 1 0.073170732 ENSG00000174231 chr17:1675692-1675692;G/A missense_variant False PROX1@p.V415I 1 0.420289855 ENSG00000117707 chr1:213997778-213997778;G/A missense_variant False PROX2@p.S217C 1 0.216666667 ENSG00000119608 chr14:74863185-74863185;G/C missense_variant False PROZ@p.L367I 1 0.513157895 ENSG00000126231 chr13:113172001-113172001;C/A missense_variant False PRPF18@p.E174G 1 0.475 ENSG00000165630 chr10:13611625-13611625;A/G missense_variant False PRPF18@p.F98V 1 0.471264368 ENSG00000165630 chr10:13605673-13605673;T/G missense_variant False PRPF18@p.L123F 1 0.272727273 ENSG00000165630 chr10:13610044-13610044;G/C missense_variant False PRSS27@p.E131K 1 0.392156863 ENSG00000172382 chr16:2714182-2714182;C/T missense_variant False PRPF18@p.L318F 1 0.105590062 ENSG00000165630 chr10:13630265-13630265;G/C missense_variant False PRSS21@p.D220N 1 0.204697987 ENSG00000007038 chr16:2821062-2821062;G/A missense_variant False PRPF19@p.D40G 1 0.343283582 ENSG00000110107 chr11:60903762-60903762;T/C missense_variant False PRSS1@p.V123M 1 0.620689655 ENSG00000204983 chr7:142751940-142751940;G/A missense_variant False PRPF19@p.E10K 1 0.157480315 ENSG00000110107 chr11:60903853-60903853;C/T missense_variant False PRPF19@p.E36D 1 0.5 ENSG00000110107 chr11:60903773-60903773;C/A missense_variant False PRPF19@p.L424R 1 0.434782609 ENSG00000110107 chr11:60898141-60898141;A/C missense_variant False PRPF31@p.E12K 1 0.2625 ENSG00000105618 chr19:54118312-54118312;G/A missense_variant False PRPF31@p.E79K 1 0.368932039 ENSG00000105618 chr19:54118630-54118630;G/A missense_variant False PRPF31@p.G437A 1 0.166666667 ENSG00000105618 chr19:54129306-54129306;G/C missense_variant False PRPF31@p.G437R 1 0.166666667 ENSG00000105618 chr19:54129305-54129305;G/C missense_variant False PRPF38A@p.R164L 1 0.171717172 ENSG00000134748 chr1:52411193-52411193;G/T missense_variant False PRPF38B@p.G201A 1 0.171428571 ENSG00000134186 chr1:108698647-108698647;G/C missense_variant False PRPF38B@p.R265del 1 0.142857143 ENSG00000134186 chr1:108699169-108699171;AGG/- inframe_deletion False PRPF38B@p.R356K 1 0.235294118 ENSG00000134186 chr1:108699446-108699446;G/A missense_variant False PRPF39@p.E40K 1 0.23880597 ENSG00000185246 chr14:45095357-45095357;G/A missense_variant False PRPF39@p.N545S 1 0.390243902 ENSG00000185246 chr14:45112379-45112379;A/G missense_variant False PRPF39@p.Q571H 1 0.346153846 ENSG00000185246 chr14:45112458-45112458;G/C missense_variant False PRPF3@p.D304H 1 0.065217391 ENSG00000117360 chr1:150335116-150335116;G/C missense_variant False PROX2@p.R184C 1 0.415384615 ENSG00000119608 chr14:74863285-74863285;G/A missense_variant False PRSS35@p.E244K 1 0.142857143 ENSG00000146250 chr6:83524171-83524171;G/A missense_variant False PRPF8@p.R1107W 1 0.228571429 ENSG00000174231 chr17:1673873-1673873;G/A missense_variant False PROX1@p.S121F 1 0.1625 ENSG00000117707 chr1:213996897-213996897;C/T missense_variant False PROS1@p.G357V 1 0.090909091 ENSG00000184500 chr3:93893018-93893018;C/A missense_variant False PROS1@p.L413P 1 0.13740458 ENSG00000184500 chr3:93886421-93886421;A/G missense_variant False PROS1@p.N379H 1 0.508928571 ENSG00000184500 chr3:93892953-93892953;T/G missense_variant False PROS1@p.P416L 1 0.091666667 ENSG00000184500 chr3:93886412-93886412;G/A missense_variant False PROS1@p.R432W 1 0.6 ENSG00000184500 chr3:93886365-93886365;G/A missense_variant False PRSS36@p.E809K 1 0.421052632 ENSG00000178226 chr16:31139281-31139281;C/T missense_variant False PROS1@p.S194L 1 0.242424242 ENSG00000184500 chr3:93905804-93905804;G/A missense_variant False PROSER1@p.L468V 1 0.290322581 ENSG00000120685 chr13:39013850-39013850;G/C missense_variant False PROSER1@p.Q940H 1 0.264367816 ENSG00000120685 chr13:39011380-39011380;C/G missense_variant False PROSER1@p.R387G 1 0.133333333 ENSG00000120685 chr13:39014093-39014093;G/C missense_variant False PROSER2@p.E57K 1 0.358695652 ENSG00000148426 chr10:11866561-11866561;G/A missense_variant False PROSER3@p.E241K 1 0.066666667 ENSG00000167595 chr19:35765128-35765128;G/A missense_variant False PROSER3@p.P238A 1 0.355932203 ENSG00000167595 chr19:35765119-35765119;C/G missense_variant False PROX1@p.D609H 1 0.216666667 ENSG00000117707 chr1:214005264-214005264;G/C missense_variant False PROX1@p.D674N 1 0.431192661 ENSG00000117707 chr1:214011707-214011707;G/A missense_variant False PROX1@p.E188K 1 0.306122449 ENSG00000117707 chr1:213997097-213997097;G/A missense_variant False PROX1@p.L116V 1 0.109489051 ENSG00000117707 chr1:213996881-213996881;C/G missense_variant False PROX1@p.N644H 1 0.882352941 ENSG00000117707 chr1:214011617-214011617;A/C missense_variant False PRSS35@p.T60I 1 0.473684211 ENSG00000146250 chr6:83523620-83523620;C/T missense_variant False PRSS35@p.R216T 1 0.162162162 ENSG00000146250 chr6:83524088-83524088;G/C missense_variant False PROX1@p.Q151K 1 0.183098592 ENSG00000117707 chr1:213996986-213996986;C/A missense_variant False PRSS35@p.K360T 1 0.397959184 ENSG00000146250 chr6:83524520-83524520;A/C missense_variant False PRSS35@p.G347S 1 0.417266187 ENSG00000146250 chr6:83524480-83524480;G/A missense_variant False PROX1@p.R209C 1 0.402777778 ENSG00000117707 chr1:213997160-213997160;C/T missense_variant False PROX1@p.R38T 1 0.32 ENSG00000117707 chr1:213996648-213996648;G/C missense_variant False PRPF3@p.E179K 1 0.385964912 ENSG00000117360 chr1:150333006-150333006;G/A missense_variant False PRSS16@p.E479K 1 0.478395062 ENSG00000112812 chr6:27255090-27255090;G/A missense_variant False PRSS16@p.E130K 1 0.0875 ENSG00000112812 chr6:27249150-27249150;G/A missense_variant False PRPF3@p.E667K 1 0.06918239 ENSG00000117360 chr1:150352926-150352926;G/A missense_variant False PRPF4B@p.R856P 1 0.206060606 ENSG00000112739 chr6:4056421-4056421;G/C missense_variant False PRPF6@p.D98H 1 0.142857143 ENSG00000101161 chr20:63984958-63984958;G/C missense_variant False PRSS12@p.A534V 1 0.490196078 ENSG00000164099 chr4:118308466-118308466;G/A missense_variant False PRPF6@p.E127K 1 0.939393939 ENSG00000101161 chr20:63993426-63993426;G/A missense_variant False PRRX2@p.G93E 1 0.571428571 ENSG00000167157 chr9:129719249-129719249;G/A missense_variant False PRRX1@p.R182C 1 0.075 ENSG00000116132 chr1:170726346-170726346;C/T missense_variant False PRPF6@p.E905K 1 0.142857143 ENSG00000101161 chr20:64032880-64032880;G/A missense_variant False PRRX1@p.K90N 1 0.25 ENSG00000116132 chr1:170719754-170719754;G/T missense_variant False PRPF6@p.G909W 1 0.52 ENSG00000101161 chr20:64032892-64032892;G/T missense_variant False PRPF6@p.K574N 1 0.24691358 ENSG00000101161 chr20:64022831-64022831;G/C missense_variant False PRRX1@p.G170A 1 0.255555556 ENSG00000116132 chr1:170726311-170726311;G/C missense_variant False PRRX1@p.E59K 1 0.25 ENSG00000116132 chr1:170664393-170664393;G/A missense_variant False PRRX1@p.E114K 1 0.204545455 ENSG00000116132 chr1:170719824-170719824;G/A missense_variant False PRPF6@p.Q825H 1 0.336065574 ENSG00000101161 chr20:64029420-64029420;G/C missense_variant False PRPF6@p.R116T 1 0.109375 ENSG00000101161 chr20:63985013-63985013;G/C missense_variant False PRRT2@p.S205L 1 0.421052632 ENSG00000167371 chr16:29813668-29813668;C/T missense_variant False PRPF6@p.R703Q 1 0.16 ENSG00000101161 chr20:64027061-64027061;G/A missense_variant False PRRT2@p.R308H 1 0.161904762 ENSG00000167371 chr16:29814376-29814376;G/A missense_variant False PRPF6@p.S199L 1 0.136986301 ENSG00000101161 chr20:63995073-63995073;C/T missense_variant False PRRT2@p.H201Y 1 0.421052632 ENSG00000167371 chr16:29813655-29813655;C/T missense_variant False PRRT2@p.E10Q 1 0.234782609 ENSG00000167371 chr16:29813082-29813082;G/C missense_variant False PRPF6@p.T469R 1 0.507692308 ENSG00000101161 chr20:64011385-64011385;C/G missense_variant False PRPF8@p.E1193K 1 0.238095238 ENSG00000174231 chr17:1673437-1673437;C/T missense_variant False PRPF8@p.E1409Q 1 0.365591398 ENSG00000174231 chr17:1661384-1661384;C/G missense_variant False PRPF8@p.L260F 1 0.109489051 ENSG00000174231 chr17:1681564-1681564;C/G missense_variant False PRPF4B@p.R853T 1 0.078740157 ENSG00000112739 chr6:4056412-4056412;G/C missense_variant False PRPF4B@p.R496T 1 0.533333333 ENSG00000112739 chr6:4040846-4040846;G/C missense_variant False PRPF4B@p.Q37E 1 0.196078431 ENSG00000112739 chr6:4031626-4031626;C/G missense_variant False PRSS12@p.P381S 1 0.933333333 ENSG00000164099 chr4:118318387-118318387;G/A missense_variant False PRSS16@p.E102K 1 0.365384615 ENSG00000112812 chr6:27248913-27248913;G/A missense_variant False PRSS12@p.T268M 1 0.269230769 ENSG00000164099 chr4:118335490-118335490;G/A missense_variant False PRPF3@p.K626N 1 0.347826087 ENSG00000117360 chr1:150349191-150349191;A/C missense_variant False PRPF3@p.P385S 1 0.132075472 ENSG00000117360 chr1:150338277-150338277;C/T missense_variant False PRPF3@p.Q607H 1 0.093023256 ENSG00000117360 chr1:150346469-150346469;G/C missense_variant False PRPF3@p.T138I 1 0.402061856 ENSG00000117360 chr1:150328456-150328456;C/T missense_variant False PRSS12@p.S855Y 1 0.192307692 ENSG00000164099 chr4:118282000-118282000;G/T missense_variant False PRPF40A@p.E199Q 1 0.088888889 ENSG00000196504 chr2:152681279-152681279;C/G missense_variant False PRSS12@p.R719Q 1 0.118012422 ENSG00000164099 chr4:118282995-118282995;C/T missense_variant False PRSS12@p.Q710K 1 0.26 ENSG00000164099 chr4:118283023-118283023;G/T missense_variant False PRPF40A@p.E776K 1 0.357142857 ENSG00000196504 chr2:152663127-152663127;C/T missense_variant False PRPF40A@p.M780I 1 0.258064516 ENSG00000196504 chr2:152663113-152663113;C/T missense_variant False PRPF4B@p.E250Q 1 0.255474453 ENSG00000112739 chr6:4032265-4032265;G/C missense_variant False PRPF40A@p.R464L 1 0.285714286 ENSG00000196504 chr2:152672984-152672984;C/A missense_variant False PRSS12@p.H587Y 1 0.3 ENSG00000164099 chr4:118298811-118298811;G/A missense_variant False PRPF40A@p.R826I 1 0.375 ENSG00000196504 chr2:152662640-152662640;C/A missense_variant False PRPF40B@p.E621K 1 0.109090909 ENSG00000110844 chr12:49642277-49642277;G/A missense_variant False PRPF40B@p.Q196E 1 0.097087379 ENSG00000110844 chr12:49633932-49633932;C/G missense_variant False PRPF40B@p.Q196K 1 0.129251701 ENSG00000110844 chr12:49633932-49633932;C/A missense_variant False PRPF40B@p.R634Q 1 0.463636364 ENSG00000110844 chr12:49642317-49642317;G/A missense_variant False PRSS12@p.G633C 1 0.104477612 ENSG00000164099 chr4:118295797-118295797;C/A missense_variant False PRPF4@p.E521Q 1 0.526315789 ENSG00000136875 chr9:113291655-113291655;G/C missense_variant False PRPF4@p.R438L 1 0.732142857 ENSG00000136875 chr9:113290957-113290957;G/T missense_variant False PRPF4@p.S482F 1 0.529411765 ENSG00000136875 chr9:113291539-113291539;C/T missense_variant False PRKCD@p.E446K 1 0.25 ENSG00000163932 chr3:53186679-53186679;G/A missense_variant False PRKCD@p.E406K 1 0.3625 ENSG00000163932 chr3:53186296-53186296;G/A missense_variant False PRKCD@p.E373Q 1 0.333333333 ENSG00000163932 chr3:53186197-53186197;G/C missense_variant False PSMA1@p.D227N 1 0.557692308 ENSG00000129084 chr11:14507712-14507712;C/T missense_variant False PRDM16@p.E136Kfs*75 1 0.238636364 ENSG00000142611 chr1:3244104-3244104;G/- frameshift_variant False PSKH2@p.R375M 1 0.287037037 ENSG00000147613 chr8:86048496-86048496;C/A missense_variant False PSKH2@p.F259L 1 0.142857143 ENSG00000147613 chr8:86064040-86064040;G/C missense_variant False PSKH1@p.S370C 1 0.287581699 ENSG00000159792 chr16:67927476-67927476;C/G missense_variant False PRDM16@p.G454C 1 0.351851852 ENSG00000142611 chr1:3411557-3411557;G/T missense_variant False PSKH1@p.S32Vfs*52 1 0.111111111 ENSG00000159792 chr16:67908843-67908843;A/- frameshift_variant False PRDM16@p.G650A 1 0.078431373 ENSG00000142611 chr1:3412146-3412146;G/C missense_variant False PRDM16@p.K170R 1 0.352601156 ENSG00000142611 chr1:3385222-3385222;A/G missense_variant False PRDM16@p.K249N 1 0.14516129 ENSG00000142611 chr1:3402861-3402861;G/T missense_variant False PSIP1@p.T272Ifs*4 1 0.324324324 ENSG00000164985 chr9:15474051-15474052;GG/- frameshift_variant False PSIP1@p.R351Q 1 0.41025641 ENSG00000164985 chr9:15469318-15469318;C/T missense_variant False PSIP1@p.N86Lfs*6 1 0.420289855 ENSG00000164985 chr9:15490018-15490019;-/AG frameshift_variant False PRDM16@p.K783E 1 0.086956522 ENSG00000142611 chr1:3412544-3412544;A/G missense_variant False PRDM16@p.R962S 1 0.25 ENSG00000142611 chr1:3418691-3418691;A/T missense_variant False PSIP1@p.E431K 1 0.807017544 ENSG00000164985 chr9:15468759-15468759;C/T missense_variant False PRDM1@p.A174D 1 0.369230769 ENSG00000057657 chr6:106099409-106099409;C/A missense_variant True PRDM1@p.E728K 1 0.62 ENSG00000057657 chr6:106107190-106107190;G/A missense_variant True PRDM1@p.K801M 1 0.152941176 ENSG00000057657 chr6:106107410-106107410;A/T missense_variant True PRDM1@p.R268H 1 0.1 ENSG00000057657 chr6:106104963-106104963;G/A missense_variant True PSIP1@p.E395Q 1 0.464285714 ENSG00000164985 chr9:15468980-15468980;C/G missense_variant False PRDM1@p.S654C 1 0.244186047 ENSG00000057657 chr6:106106969-106106969;C/G missense_variant True PRDM2@p.A1601T 1 0.177419355 ENSG00000116731 chr1:13782596-13782596;G/A missense_variant False PRDM2@p.E1104K 1 0.146341463 ENSG00000116731 chr1:13781105-13781105;G/A missense_variant False PSIP1@p.E285K 1 0.142857143 ENSG00000164985 chr9:15474014-15474014;C/T missense_variant False PRDM2@p.E1115Q 1 0.176056338 ENSG00000116731 chr1:13781138-13781138;G/C missense_variant False PRDM16@p.D624N 1 0.395604396 ENSG00000142611 chr1:3412067-3412067;G/A missense_variant False PRDM16@p.A417T 1 0.209302326 ENSG00000142611 chr1:3411446-3411446;G/A missense_variant False PSIP1@p.E125K 1 0.19047619 ENSG00000164985 chr9:15486847-15486847;C/T missense_variant False PRDM16@p.A34E 1 0.140740741 ENSG00000142611 chr1:3186188-3186188;C/A missense_variant False PSMA5@p.E18K 1 0.087719298 ENSG00000143106 chr1:109421904-109421904;C/T missense_variant False PSMA5@p.D9N 1 0.138297872 ENSG00000143106 chr1:109426306-109426306;C/T missense_variant False PRDM13@p.K483R 1 0.269230769 ENSG00000112238 chr6:99614083-99614083;A/G missense_variant False PSMA5@p.A72V 1 0.532258065 ENSG00000143106 chr1:109415245-109415245;G/A missense_variant False PSMA4@p.Q95E 1 0.35 ENSG00000041357 chr15:78544263-78544263;C/G missense_variant False PSMA4@p.I137V 1 0.333333333 ENSG00000041357 chr15:78545666-78545666;A/G missense_variant False PRDM13@p.L65V 1 0.204081633 ENSG00000112238 chr6:99608789-99608789;C/G missense_variant False PRDM13@p.Q422K 1 0.458333333 ENSG00000112238 chr6:99613899-99613899;C/A missense_variant False PRDM13@p.S112C 1 0.35 ENSG00000112238 chr6:99609245-99609245;C/G missense_variant False PSMA4@p.E250K 1 0.628571429 ENSG00000041357 chr15:78548906-78548906;G/A missense_variant False PSMA3@p.D253G 1 0.5 ENSG00000100567 chr14:58271885-58271885;A/G missense_variant False PRDM14@p.P377S 1 0.157142857 ENSG00000147596 chr8:70066289-70066289;G/A missense_variant False PSMA2@p.H189Y 1 0.070707071 ENSG00000256646 chr7:42917801-42917801;G/A missense_variant False PSMA2@p.E175Q 1 0.445783133 ENSG00000256646 chr7:42921865-42921865;C/G missense_variant False PRDM14@p.Q168K 1 0.08 ENSG00000147596 chr8:70069359-70069359;G/T missense_variant False PRDM14@p.R446Q 1 0.395348837 ENSG00000147596 chr8:70058689-70058689;C/T missense_variant False PRDM14@p.S126N 1 0.151515152 ENSG00000147596 chr8:70069484-70069484;C/T missense_variant False PRDM15@p.D679H 1 0.197368421 ENSG00000141956 chr21:41821962-41821962;C/G missense_variant False PSMA1@p.V188L 1 0.333333333 ENSG00000129084 chr11:14510934-14510934;C/G missense_variant False PRDM15@p.K903N 1 0.131578947 ENSG00000141956 chr21:41810295-41810295;C/G missense_variant False PRDM15@p.L417V 1 0.230769231 ENSG00000141956 chr21:41836600-41836600;G/C missense_variant False PRDM15@p.Q1043H 1 0.438538206 ENSG00000141956 chr21:41802724-41802724;C/G missense_variant False PRDM15@p.R945Q 1 0.277027027 ENSG00000141956 chr21:41810170-41810170;C/T missense_variant False PSMA1@p.E252Q 1 0.388349515 ENSG00000129084 chr11:14505230-14505230;C/G missense_variant False PRDM15@p.T1058N 1 0.053191489 ENSG00000141956 chr21:41801691-41801691;G/T missense_variant False PRDM2@p.E135K 1 0.078431373 ENSG00000116731 chr1:13749379-13749379;G/A missense_variant False PSIP1@p.E111K 1 0.371428571 ENSG00000164985 chr9:15486889-15486889;C/T missense_variant False PSG6@p.N198Tfs*25 1 0.150097466 ENSG00000170848 chr19:42910695-42910695;G/- frameshift_variant False PRDM5@p.F243L 1 0.242105263 ENSG00000138738 chr4:120816846-120816846;G/T missense_variant False PSG7@p.S380C 1 0.508928571 ENSG00000221878 chr19:42925877-42925877;G/C missense_variant False PRDM5@p.F611C 1 0.459459459 ENSG00000138738 chr4:120695172-120695172;A/C missense_variant False PSG7@p.L52F 1 0.240174672 ENSG00000221878 chr19:42935680-42935680;G/A missense_variant False PSG7@p.G48R 1 0.155294118 ENSG00000221878 chr19:42935692-42935692;C/G missense_variant False PSG7@p.G2W 1 0.176190476 ENSG00000221878 chr19:42937073-42937073;C/A missense_variant False PRDM5@p.K271N 1 0.157894737 ENSG00000138738 chr4:120816505-120816505;C/G missense_variant False PSG7@p.E304K 1 0.141242938 ENSG00000221878 chr19:42926516-42926516;C/T missense_variant False PRDM5@p.K528Q 1 0.443037975 ENSG00000138738 chr4:120754594-120754594;T/G missense_variant False PRDM5@p.L182V 1 0.219512195 ENSG00000138738 chr4:120818459-120818459;G/C missense_variant False PSG6@p.Y214C 1 0.298126065 ENSG00000170848 chr19:42910645-42910645;T/C missense_variant False PRDM5@p.M326R 1 0.212765957 ENSG00000138738 chr4:120799714-120799714;A/C missense_variant False PRDM5@p.R28K 1 0.288461538 ENSG00000138738 chr4:120922526-120922526;C/T missense_variant False PRDM7@p.E19K 1 0.236842105 ENSG00000126856 chr16:90075856-90075856;C/T missense_variant False PSG6@p.S398L 1 0.161214953 ENSG00000170848 chr19:42906969-42906969;G/A missense_variant False PRDM7@p.E39K 1 0.165413534 ENSG00000126856 chr16:90075429-90075429;C/T missense_variant False PSG6@p.Q277E 1 0.188679245 ENSG00000170848 chr19:42907732-42907732;G/C missense_variant False PSG6@p.P338A 1 0.394871795 ENSG00000170848 chr19:42907150-42907150;G/C missense_variant False PRDM7@p.S370C 1 0.077922078 ENSG00000126856 chr16:90060465-90060465;G/C missense_variant False PRDM8@p.D186H 1 0.152542373 ENSG00000152784 chr4:80202018-80202018;G/C missense_variant False PRDM8@p.H48R 1 0.349056604 ENSG00000152784 chr4:80200223-80200223;A/G missense_variant False PRDM9@p.E496D 1 0.136363636 ENSG00000164256 chr5:23526576-23526576;A/C missense_variant False PRDM9@p.E717K 1 0.182320442 ENSG00000164256 chr5:23527237-23527237;G/A missense_variant False PRDM9@p.F561L 1 0.328467153 ENSG00000164256 chr5:23526769-23526769;T/C missense_variant False PRDM9@p.N59T 1 0.424050633 ENSG00000164256 chr5:23509576-23509576;A/C missense_variant False PRDM9@p.Q209H 1 0.27027027 ENSG00000164256 chr5:23522630-23522630;G/C missense_variant False PSG7@p.V101A 1 0.041958042 ENSG00000221878 chr19:42935532-42935532;A/G missense_variant False PRDM5@p.E603K 1 0.385714286 ENSG00000138738 chr4:120695197-120695197;C/T missense_variant False PSIP1@p.D242Afs*7 1 0.436708861 ENSG00000164985 chr9:15474138-15474142;CTTAT/- frameshift_variant False PSG7@p.V165A 1 0.117359413 ENSG00000221878 chr19:42929657-42929657;A/G missense_variant False PSIP1@p.C373F 1 0.633333333 ENSG00000164985 chr9:15469045-15469045;C/A missense_variant False PRDM2@p.E1408Q 1 0.223529412 ENSG00000116731 chr1:13782017-13782017;G/C missense_variant False PRDM2@p.E147K 1 0.176470588 ENSG00000116731 chr1:13749415-13749415;G/A missense_variant False PRDM2@p.E229V 1 0.111111111 ENSG00000116731 chr1:13778481-13778481;A/T missense_variant False PRDM2@p.E302K 1 0.21875 ENSG00000116731 chr1:13778699-13778699;G/A missense_variant False PRDM2@p.K638R 1 0.179487179 ENSG00000116731 chr1:13779708-13779708;A/G missense_variant False PRDM2@p.R911G 1 0.16 ENSG00000116731 chr1:13780526-13780526;A/G missense_variant False PRDM2@p.S1030C 1 0.111111111 ENSG00000116731 chr1:13780884-13780884;C/G missense_variant False PRDM2@p.S1053F 1 0.25 ENSG00000116731 chr1:13780953-13780953;C/T missense_variant False PSG9@p.D333Y 1 0.197674419 ENSG00000183668 chr19:43258448-43258448;C/A missense_variant False PRDM2@p.S1065C 1 0.289855072 ENSG00000116731 chr1:13780989-13780989;C/G missense_variant False PRDM2@p.S559C 1 0.089552239 ENSG00000116731 chr1:13779471-13779471;C/G missense_variant False PRDM2@p.S999Y 1 0.585227273 ENSG00000116731 chr1:13780791-13780791;C/A missense_variant False PSG8@p.S406P 1 0.156209987 ENSG00000124467 chr19:42754360-42754360;A/G missense_variant False PRDM2@p.T737I 1 0.377952756 ENSG00000116731 chr1:13780005-13780005;C/T missense_variant False PSG8@p.E47Q 1 0.180921053 ENSG00000124467 chr19:42764207-42764207;C/G missense_variant False PRDM4@p.D189N 1 0.468531469 ENSG00000110851 chr12:107751976-107751976;C/T missense_variant False PRDM4@p.D282H 1 0.363636364 ENSG00000110851 chr12:107751697-107751697;C/G missense_variant False PRDM4@p.I130V 1 0.210526316 ENSG00000110851 chr12:107752153-107752153;T/C missense_variant False PRDM4@p.K703R 1 0.358695652 ENSG00000110851 chr12:107734508-107734508;T/C missense_variant False PRDM4@p.N278I 1 0.25 ENSG00000110851 chr12:107751708-107751708;T/A missense_variant False PRDM4@p.P434S 1 0.337837838 ENSG00000110851 chr12:107744638-107744638;G/A missense_variant False PSG8@p.E267D 1 0.049586777 ENSG00000124467 chr19:42755175-42755175;C/A missense_variant False PRDM4@p.S139C 1 0.129310345 ENSG00000110851 chr12:107752125-107752125;G/C missense_variant False PRDM5@p.E400K 1 0.363636364 ENSG00000138738 chr4:120785082-120785082;C/T missense_variant False PRDM11@p.G491S 1 0.25 ENSG00000019485 chr11:45224843-45224843;G/A missense_variant False PRDM11@p.G150C 1 0.424242424 ENSG00000019485 chr11:45182983-45182983;G/T missense_variant False PRDM11@p.E413Q 1 0.378640777 ENSG00000019485 chr11:45224609-45224609;G/C missense_variant False PRAMEF19@p.L407F 1 0.06122449 ENSG00000204480 chr1:13369286-13369286;C/G missense_variant False PSMB2@p.R70Q 1 0.269662921 ENSG00000126067 chr1:35636315-35636315;C/T missense_variant False PRAMEF19@p.Q252R 1 0.18220339 ENSG00000204480 chr1:13370760-13370760;T/C missense_variant False PRAMEF19@p.S125F 1 0.06504065 ENSG00000204480 chr1:13371141-13371141;G/A missense_variant False PRAMEF19@p.S229I 1 0.144886364 ENSG00000204480 chr1:13370829-13370829;C/A missense_variant False PSMB2@p.P176S 1 0.352941176 ENSG00000126067 chr1:35603347-35603347;G/A missense_variant False PSMB1@p.R13K 1 0.695652174 ENSG00000008018 chr6:170553205-170553205;C/T missense_variant False PSMB1@p.D14H 1 0.277777778 ENSG00000008018 chr6:170553203-170553203;C/G missense_variant False PRAMEF19@p.W213C 1 0.174846626 ENSG00000204480 chr1:13370876-13370876;C/A missense_variant False PRAMEF1@p.P146H 1 0.184563758 ENSG00000116721 chr1:12794064-12794064;C/A missense_variant False PRAMEF1@p.P458H 1 0.218390805 ENSG00000116721 chr1:12795944-12795944;C/A missense_variant False PRAMEF1@p.Q208E 1 0.125301205 ENSG00000116721 chr1:12794249-12794249;C/G missense_variant False PRAMEF1@p.S350F 1 0.346534653 ENSG00000116721 chr1:12795620-12795620;C/T missense_variant False PRAMEF1@p.W113C 1 0.175925926 ENSG00000116721 chr1:12793966-12793966;G/C missense_variant False PRAMEF1@p.W217R 1 0.223451327 ENSG00000116721 chr1:12794276-12794276;T/C missense_variant False PRAMEF20@p.C474W 1 0.120141343 ENSG00000204478 chr1:13421252-13421252;C/G missense_variant False PRAMEF20@p.C474Y 1 0.120567376 ENSG00000204478 chr1:13421251-13421251;G/A missense_variant False PSMB10@p.E273Q 1 0.376344086 ENSG00000205220 chr16:67934565-67934565;C/G missense_variant False PRAMEF20@p.D355N 1 0.386100386 ENSG00000204478 chr1:13420893-13420893;G/A missense_variant False PRAMEF20@p.E417D 1 0.131313131 ENSG00000204478 chr1:13421081-13421081;G/C missense_variant False PRAMEF20@p.E42K 1 0.165289256 ENSG00000204478 chr1:13416478-13416478;G/A missense_variant False PRAMEF20@p.L356V 1 0.151544402 ENSG00000204478 chr1:13420896-13420896;T/G missense_variant False PRAMEF20@p.S240C 1 0.063583815 ENSG00000204478 chr1:13418553-13418553;C/G missense_variant False PSMA8@p.L78F 1 0.736363636 ENSG00000154611 chr18:26151844-26151844;G/C missense_variant False PRAMEF2@p.K311M 1 0.119815668 ENSG00000120952 chr1:12861286-12861286;A/T missense_variant False PRAMEF2@p.L189V 1 0.17132216 ENSG00000120952 chr1:12859970-12859970;C/G missense_variant False PRAMEF19@p.M129I 1 0.042844901 ENSG00000204480 chr1:13371128-13371128;C/G missense_variant False PRAMEF19@p.G386S 1 0.508038585 ENSG00000204480 chr1:13369351-13369351;C/T missense_variant False PSMA5@p.S35F 1 0.425 ENSG00000143106 chr1:109415356-109415356;G/A missense_variant False PRAMEF19@p.F382L 1 0.046004843 ENSG00000204480 chr1:13369361-13369361;G/C missense_variant False PRAMEF12@p.R106W 1 0.136792453 ENSG00000116726 chr1:12775571-12775571;C/T missense_variant False PRAMEF12@p.S275C 1 0.316455696 ENSG00000116726 chr1:12776079-12776079;C/G missense_variant False PRAMEF14@p.A393V 1 0.182926829 ENSG00000204481 chr1:13342775-13342775;G/A missense_variant False PRAMEF14@p.E230K 1 0.144886364 ENSG00000204481 chr1:13344216-13344216;C/T missense_variant False PSMB5@p.D76H 1 0.347826087 ENSG00000100804 chr14:23033647-23033647;C/G missense_variant False PRAMEF14@p.H244Y 1 0.542986425 ENSG00000204481 chr1:13344174-13344174;G/A missense_variant False PSMB4@p.S26C 1 0.120689655 ENSG00000159377 chr1:151399664-151399664;C/G missense_variant False PRAMEF14@p.P191L 1 0.288557214 ENSG00000204481 chr1:13344332-13344332;G/A missense_variant False PRAMEF14@p.R19K 1 0.24122807 ENSG00000204481 chr1:13345259-13345259;C/T missense_variant False PRAMEF15@p.L179F 1 0.09033877 ENSG00000204501 chr1:13319615-13319615;A/C missense_variant False PRAMEF15@p.L236F 1 0.1 ENSG00000204501 chr1:13319784-13319784;C/T missense_variant False PRAMEF15@p.L346I 1 0.416846652 ENSG00000204501 chr1:13321863-13321863;C/A missense_variant False PRAMEF15@p.T304S 1 0.191489362 ENSG00000204501 chr1:13321737-13321737;A/T missense_variant False PRAMEF17@p.D86H 1 0.315068493 ENSG00000204479 chr1:13389913-13389913;G/C missense_variant False PRAMEF17@p.L66V 1 0.169014085 ENSG00000204479 chr1:13389853-13389853;C/G missense_variant False PSMB4@p.D101N 1 0.124 ENSG00000159377 chr1:151400141-151400141;G/A missense_variant False PRAMEF17@p.P447H 1 0.08994709 ENSG00000204479 chr1:13392417-13392417;C/A missense_variant False PSMB3@p.L76F 1 0.156521739 ENSG00000277791 chr17:38755922-38755922;G/T missense_variant False PSMB3@p.A23D 1 0.137931034 ENSG00000277791 chr17:38753214-38753214;C/A missense_variant False PRAMEF17@p.W59G 1 0.271604938 ENSG00000204479 chr1:13389832-13389832;T/G missense_variant False PRAMEF18@p.D241N 1 0.101149425 ENSG00000279804 chr1:13225000-13225000;C/T missense_variant False PRAMEF18@p.K184M 1 0.142533937 ENSG00000279804 chr1:13225170-13225170;T/A missense_variant False PRAMEF18@p.M129I 1 0.07977208 ENSG00000279804 chr1:13225334-13225334;C/G missense_variant False PRAMEF18@p.T72S 1 0.17037037 ENSG00000279804 chr1:13225893-13225893;T/A missense_variant False PRAMEF19@p.E110K 1 0.043478261 ENSG00000204480 chr1:13371187-13371187;C/T missense_variant False PRAMEF2@p.L82Q 1 0.341463415 ENSG00000120952 chr1:12859254-12859254;T/A missense_variant False PSMA8@p.E248Q 1 0.117647059 ENSG00000154611 chr18:26192382-26192382;G/C missense_variant False PRAMEF2@p.M389T 1 0.146153846 ENSG00000120952 chr1:12861520-12861520;T/C missense_variant False PRAMEF2@p.R424H 1 0.158536585 ENSG00000120952 chr1:12861625-12861625;G/A missense_variant False PRB4@p.Q147E 1 0.06147541 ENSG00000230657 chr12:11308544-11308544;G/C missense_variant False PRB4@p.Q151H 1 0.329113924 ENSG00000230657 chr12:11308530-11308530;C/A missense_variant False PRC1@p.A576V 1 0.489051095 ENSG00000198901 chr15:90969469-90969469;G/A missense_variant False PRC1@p.E360K 1 0.078125 ENSG00000198901 chr15:90979187-90979187;C/T missense_variant False PRC1@p.E442D 1 0.292207792 ENSG00000198901 chr15:90974609-90974609;C/G missense_variant False PRC1@p.E444D 1 0.524647887 ENSG00000198901 chr15:90974603-90974603;C/G missense_variant False PRC1@p.E461Q 1 0.623376623 ENSG00000198901 chr15:90974216-90974216;C/G missense_variant False PRC1@p.E57K 1 0.088414634 ENSG00000198901 chr15:90984116-90984116;C/T missense_variant False PRC1@p.Q332R 1 0.428571429 ENSG00000198901 chr15:90979270-90979270;T/C missense_variant False PRC1@p.R2S 1 0.153846154 ENSG00000198901 chr15:90994412-90994412;C/G missense_variant False PRC1@p.T492dup 1 0.561403509 ENSG00000198901 chr15:90970503-90970504;-/GTA inframe_insertion False PRCC@p.I245M 1 0.153846154 ENSG00000143294 chr1:156786826-156786826;C/G missense_variant False PRCC@p.I245V 1 0.323529412 ENSG00000143294 chr1:156786824-156786824;A/G missense_variant False PRCC@p.Q56E 1 0.736842105 ENSG00000143294 chr1:156767937-156767937;C/G missense_variant False PRCC@p.S243C 1 0.158730159 ENSG00000143294 chr1:156786819-156786819;C/G missense_variant False PRCP@p.P42R 1 0.122807018 ENSG00000137509 chr11:82900278-82900278;G/C missense_variant False PRCP@p.W398C 1 0.266666667 ENSG00000137509 chr11:82838467-82838467;C/G missense_variant False PRDM10@p.E142K 1 0.481927711 ENSG00000170325 chr11:129947241-129947241;C/T missense_variant False PRDM10@p.E489D 1 0.121212121 ENSG00000170325 chr11:129931079-129931079;C/G missense_variant False PSMA5@p.V50L 1 0.491803279 ENSG00000143106 chr1:109415312-109415312;C/G missense_variant False PRDM10@p.G450E 1 0.4 ENSG00000170325 chr11:129931197-129931197;C/T missense_variant False PRDM10@p.K806N 1 0.173913043 ENSG00000170325 chr11:129915780-129915780;C/G missense_variant False PRDM10@p.S60L 1 0.183823529 ENSG00000170325 chr11:129957801-129957801;G/A missense_variant False PRDM11@p.D141N 1 0.419354839 ENSG00000019485 chr11:45182956-45182956;G/A missense_variant False PRDM11@p.E292Q 1 0.164021164 ENSG00000019485 chr11:45224246-45224246;G/C missense_variant False PRB4@p.P157S 1 0.454545455 ENSG00000230657 chr12:11308514-11308514;G/A missense_variant False PSMA6@p.D155N 1 0.307317073 ENSG00000100902 chr14:35312934-35312934;G/A missense_variant False PSMA6@p.E174D 1 0.118012422 ENSG00000100902 chr14:35312993-35312993;G/C missense_variant False PRAMEF7@p.A367T 1 0.307692308 ENSG00000204510 chr1:12920087-12920087;G/A missense_variant False PRAMEF4@p.D360Y 1 0.294314381 ENSG00000243073 chr1:12879903-12879903;C/A missense_variant False PRAMEF4@p.H286R 1 0.098859316 ENSG00000243073 chr1:12881872-12881872;T/C missense_variant False PRAMEF4@p.K185N 1 0.208791209 ENSG00000243073 chr1:12882174-12882174;C/G missense_variant False PRAMEF4@p.S317P 1 0.108843537 ENSG00000243073 chr1:12880032-12880032;A/G missense_variant False PRAMEF5@p.C109Y 1 0.152542373 ENSG00000270601 chr1:13260260-13260260;G/A missense_variant False PRAMEF5@p.L105V 1 0.312977099 ENSG00000270601 chr1:13260247-13260247;T/G missense_variant False PSMA8@p.E181Q 1 0.2 ENSG00000154611 chr18:26178875-26178875;G/C missense_variant False PRRC2B@p.H459Y 1 0.255813953 ENSG00000288701 chr9:131459327-131459327;C/T missense_variant False PRAMEF5@p.T455S 1 0.159090909 ENSG00000270601 chr1:13263043-13263043;A/T missense_variant False PRAMEF6@p.R417W 1 0.118329466 ENSG00000232423 chr1:12938857-12938857;G/A missense_variant False PRAMEF6@p.T455S 1 0.113573407 ENSG00000232423 chr1:12938743-12938743;T/A missense_variant False PRAMEF7@p.E394K 1 0.205128205 ENSG00000204510 chr1:12920168-12920168;G/A missense_variant False PRB2@p.L3F 1 0.14 ENSG00000251655 chr12:11395521-11395521;C/G missense_variant False PSMA7@p.S201L 1 0.330097087 ENSG00000101182 chr20:62137416-62137416;G/A missense_variant False PRAMEF8@p.A367T 1 0.4 ENSG00000182330 chr1:13281697-13281697;C/T missense_variant False PRAMEF8@p.D357Y 1 0.176190476 ENSG00000182330 chr1:13281727-13281727;C/A missense_variant False PRAMEF8@p.E356D 1 0.172897196 ENSG00000182330 chr1:13281728-13281728;C/G missense_variant False PSMA6@p.R245T 1 0.152173913 ENSG00000100902 chr14:35317299-35317299;G/C missense_variant False PSMA6@p.N33S 1 0.419354839 ENSG00000100902 chr14:35308015-35308015;A/G missense_variant False PSMA6@p.E244Q 1 0.147321429 ENSG00000100902 chr14:35317295-35317295;G/C missense_variant False PRAMEF8@p.E394K 1 0.333333333 ENSG00000182330 chr1:13281616-13281616;C/T missense_variant False PRB1@p.P263S 1 0.179487179 ENSG00000251655 chr12:11353313-11353313;G/A missense_variant False PRB2@p.E26K 1 0.033846154 ENSG00000251655 chr12:11394519-11394519;C/T missense_variant False PSMA6@p.E244K 1 0.5625 ENSG00000100902 chr14:35317295-35317295;G/A missense_variant False PRDM9@p.Q543E 1 0.163934426 ENSG00000164256 chr5:23526715-23526715;C/G missense_variant False PRDM9@p.R492K 1 0.455696203 ENSG00000164256 chr5:23526563-23526563;G/A missense_variant False PRX@p.R1080C 1 0.384615385 ENSG00000105227 chr19:40395114-40395114;G/A missense_variant False PRICKLE3@p.G99D 1 0.25 ENSG00000012211 chrX:49183750-49183750;C/T missense_variant False PRICKLE4@p.L248_A249insV 1 0.421052632 ENSG00000278224 chr6:41786836-41786837;-/TTG inframe_insertion False PRICKLE4@p.T225I 1 0.064377682 ENSG00000278224 chr6:41786768-41786768;C/T missense_variant False PSD3@p.S163N 1 0.217391304 ENSG00000156011 chr8:18872376-18872376;C/T missense_variant False PRIMPOL@p.E407K 1 0.186440678 ENSG00000164306 chr4:184685608-184685608;G/A missense_variant False PRIMPOL@p.Q50E 1 0.169811321 ENSG00000164306 chr4:184657288-184657288;C/G missense_variant False PRIMPOL@p.R417W 1 0.509803922 ENSG00000164306 chr4:184685638-184685638;C/T missense_variant False PRKAA1@p.F82L 1 0.4 ENSG00000132356 chr5:40777468-40777468;G/C missense_variant False PRKAA1@p.G109V 1 0.206349206 ENSG00000132356 chr5:40775447-40775447;C/A missense_variant False PSD3@p.S102C 1 0.538461538 ENSG00000156011 chr8:18872559-18872559;G/C missense_variant False PRKAA1@p.H365Y 1 0.06122449 ENSG00000132356 chr5:40764967-40764967;G/A missense_variant False PSD3@p.Q226E 1 0.56097561 ENSG00000156011 chr8:18872188-18872188;G/C missense_variant False PRKAA1@p.N189S 1 0.283333333 ENSG00000132356 chr5:40769446-40769446;T/C missense_variant False PRKAA1@p.S136C 1 0.04379562 ENSG00000132356 chr5:40771820-40771820;G/C missense_variant False PSD3@p.I731M 1 0.16 ENSG00000156011 chr8:18655668-18655668;G/C missense_variant False PRKAA1@p.S498C 1 0.219178082 ENSG00000132356 chr5:40762966-40762966;T/A missense_variant False PRKAA1@p.S530C 1 0.380434783 ENSG00000132356 chr5:40762869-40762869;G/C missense_variant False PRKAA2@p.D166H 1 0.588235294 ENSG00000162409 chr1:56693785-56693785;G/C missense_variant False PRKAA2@p.D461N 1 0.450704225 ENSG00000162409 chr1:56706179-56706179;G/A missense_variant False PSD3@p.G577C 1 0.208443272 ENSG00000156011 chr8:18804804-18804804;C/A missense_variant False PSD3@p.E734D 1 0.173913043 ENSG00000156011 chr8:18655659-18655659;C/G missense_variant False PRKAA2@p.E368Q 1 0.252525253 ENSG00000162409 chr1:56704284-56704284;G/C missense_variant False PRKAA2@p.P367T 1 0.655737705 ENSG00000162409 chr1:56704281-56704281;C/A missense_variant False PRKAA2@p.S348C 1 0.338983051 ENSG00000162409 chr1:56704225-56704225;C/G missense_variant False PRKAA2@p.T303I 1 0.419642857 ENSG00000162409 chr1:56704090-56704090;C/T missense_variant False PRKAB1@p.E42K 1 0.303030303 ENSG00000111725 chr12:119668368-119668368;G/A missense_variant False PSD3@p.S518C 1 0.403846154 ENSG00000156011 chr8:18867755-18867755;G/C missense_variant False PRICKLE3@p.C49Y 1 0.473684211 ENSG00000012211 chrX:49183900-49183900;C/T missense_variant False PSD3@p.E1039K 1 0.166666667 ENSG00000156011 chr8:18535775-18535775;C/T missense_variant False PRICKLE2@p.R745C 1 0.162162162 ENSG00000163637 chr3:64099521-64099521;G/A missense_variant False PSD@p.D971Y 1 0.155172414 ENSG00000059915 chr10:102403364-102403364;C/A missense_variant False PSD@p.D454N 1 0.611764706 ENSG00000059915 chr10:102413962-102413962;C/T missense_variant False PSD@p.D289N 1 0.150943396 ENSG00000059915 chr10:102415122-102415122;C/T missense_variant False PSD4@p.S990C 1 0.255813953 ENSG00000125637 chr2:113201213-113201213;C/G missense_variant False PRG4@p.R33K 1 0.117647059 ENSG00000116690 chr1:186300112-186300112;G/A missense_variant False PRG4@p.S1352_A1353del 1 0.214285714 ENSG00000116690 chr1:186312831-186312836;TCAGCT/- inframe_deletion False PRH1@p.R46H 1 0.163636364 ENSG00000275778 chr12:10882662-10882662;C/T missense_variant False PRH1@p.V31I 1 0.298701299 ENSG00000275778 chr12:10883070-10883070;C/T missense_variant False PRICKLE1@p.D535Y 1 0.095238095 ENSG00000139174 chr12:42464431-42464431;C/A missense_variant False PRICKLE1@p.D707N 1 0.345454545 ENSG00000139174 chr12:42460186-42460186;C/T missense_variant False PRICKLE1@p.H511Y 1 0.35443038 ENSG00000139174 chr12:42464503-42464503;G/A missense_variant False PRICKLE1@p.H671D 1 0.396825397 ENSG00000139174 chr12:42460294-42460294;G/C missense_variant False PSD4@p.S361F 1 0.118971061 ENSG00000125637 chr2:113184982-113184982;C/T missense_variant False PSD4@p.S329C 1 0.109375 ENSG00000125637 chr2:113183442-113183442;C/G missense_variant False PRICKLE1@p.L187H 1 0.155172414 ENSG00000139174 chr12:42468654-42468654;A/T missense_variant False PRICKLE1@p.R657Q 1 0.153846154 ENSG00000139174 chr12:42460335-42460335;C/T missense_variant False PRICKLE1@p.S379N 1 0.25 ENSG00000139174 chr12:42464898-42464898;C/T missense_variant False PSD4@p.Q771E 1 0.5 ENSG00000125637 chr2:113196232-113196232;C/G missense_variant False PSD4@p.K176R 1 0.206349206 ENSG00000125637 chr2:113182983-113182983;A/G missense_variant False PRICKLE2@p.E223K 1 0.578947368 ENSG00000163637 chr3:64157263-64157263;C/T missense_variant False PRICKLE2@p.G675E 1 0.12749004 ENSG00000163637 chr3:64099730-64099730;C/T missense_variant False PRICKLE2@p.Q359H 1 0.161016949 ENSG00000163637 chr3:64147581-64147581;C/G missense_variant False PSD4@p.H74R 1 0.106382979 ENSG00000125637 chr2:113182677-113182677;A/G missense_variant False PSD4@p.A337P 1 0.449275362 ENSG00000125637 chr2:113183465-113183465;G/C missense_variant False PRICKLE2@p.Q465H 1 0.419117647 ENSG00000163637 chr3:64147263-64147263;C/G missense_variant False PRKAB1@p.L239R 1 0.257142857 ENSG00000111725 chr12:119679982-119679982;T/G missense_variant False PSD3@p.D174N 1 0.202531646 ENSG00000156011 chr8:18872344-18872344;C/T missense_variant False PRDM9@p.R559W 1 0.207920792 ENSG00000164256 chr5:23526763-23526763;C/T missense_variant False PSAPL1@p.D377Y 1 0.109090909 ENSG00000178597 chr4:7433751-7433751;C/A missense_variant False PSAP@p.S60F 1 0.422535211 ENSG00000197746 chr10:71831916-71831916;G/A missense_variant False PRKAR2A@p.Q150K 1 0.134146341 ENSG00000114302 chr3:48783080-48783080;G/T missense_variant False PRKAR2A@p.R347T 1 0.112068966 ENSG00000114302 chr3:48752217-48752217;C/G missense_variant False PRKAR2A@p.S80L 1 0.375 ENSG00000114302 chr3:48847358-48847358;G/A missense_variant False POU3F2@p.G340C 1 0.22459893 ENSG00000184486 chr6:98835891-98835891;G/T missense_variant False PRKAR2B@p.A362V 1 0.433962264 ENSG00000005249 chr7:107157286-107157286;C/T missense_variant False PSAP@p.R186L 1 0.209302326 ENSG00000197746 chr10:71828896-71828896;C/A missense_variant False PRKAR2B@p.E317Q 1 0.24120603 ENSG00000005249 chr7:107157014-107157014;G/C missense_variant False PRKAR2B@p.R343G 1 0.373493976 ENSG00000005249 chr7:107157228-107157228;C/G missense_variant False PSAP@p.I302V 1 0.317307692 ENSG00000197746 chr10:71821881-71821881;T/C missense_variant False PRKAR2B@p.V105I 1 0.404761905 ENSG00000005249 chr7:107070286-107070286;G/A missense_variant False PRKAR2B@p.Y297H 1 0.45631068 ENSG00000005249 chr7:107153222-107153222;T/C missense_variant False PRKCA@p.I106F 1 0.188271605 ENSG00000154229 chr17:66641382-66641382;A/T missense_variant False PRKCA@p.M130I 1 0.220779221 ENSG00000154229 chr17:66641456-66641456;G/A missense_variant False PRKCA@p.M470I 1 0.136842105 ENSG00000154229 chr17:66742646-66742646;G/C missense_variant False PRKCB@p.E243D 1 0.476190476 ENSG00000166501 chr16:24094205-24094205;G/T missense_variant False PRKCB@p.G160S 1 0.688679245 ENSG00000166501 chr16:24035496-24035496;G/A missense_variant False PRKCB@p.H107R 1 0.162162162 ENSG00000166501 chr16:24032167-24032167;A/G missense_variant False PRKCB@p.I513N 1 0.62745098 ENSG00000166501 chr16:24185115-24185115;T/A missense_variant False PRKCB@p.L277F 1 0.272727273 ENSG00000166501 chr16:24112982-24112982;A/C missense_variant False PRKCB@p.R99H 1 0.118644068 ENSG00000166501 chr16:24032143-24032143;G/A missense_variant False PRKCB@p.R99L 1 0.133333333 ENSG00000166501 chr16:24032143-24032143;G/T missense_variant False PRXL2C@p.L151P 1 0.15 ENSG00000158122 chr9:96645994-96645994;A/G missense_variant False PRXL2B@p.P240R 1 0.310344828 ENSG00000157870 chr1:2589036-2589036;C/G missense_variant False PRXL2A@p.N173K 1 0.588235294 ENSG00000122378 chr10:80427439-80427439;C/G missense_variant False PRKAR2A@p.E157Q 1 0.131578947 ENSG00000114302 chr3:48783059-48783059;C/G missense_variant False PRKAR1B@p.R232W 1 0.223684211 ENSG00000188191 chr7:596160-596160;G/A missense_variant False PSD3@p.A897Cfs*20 1 0.365853659 ENSG00000156011 chr8:18572626-18572627;-/A frameshift_variant False PRKAR1A@p.V114L 1 0.056179775 ENSG00000108946 chr17:68522918-68522918;G/C missense_variant False PRKAB1@p.R83P 1 0.472222222 ENSG00000111725 chr12:119672389-119672389;G/C missense_variant False PSD2@p.R574C 1 0.304347826 ENSG00000146005 chr5:139837679-139837679;C/T missense_variant False PRKAB2@p.P78H 1 0.357142857 ENSG00000131791 chr1:147167857-147167857;G/T missense_variant False PSD2@p.R316W 1 0.375 ENSG00000146005 chr5:139814294-139814294;C/T missense_variant False PSD2@p.R224H 1 0.75 ENSG00000146005 chr5:139813608-139813608;G/A missense_variant False PRKACA@p.D291H 1 0.24822695 ENSG00000072062 chr19:14093687-14093687;C/G missense_variant False PSD2@p.L303V 1 0.140625 ENSG00000146005 chr5:139814255-139814255;C/G missense_variant False PSD2@p.I459M 1 0.373913043 ENSG00000146005 chr5:139835740-139835740;C/G missense_variant False PSD2@p.H315D 1 0.349206349 ENSG00000146005 chr5:139814291-139814291;C/G missense_variant False PSD2@p.D599N 1 0.511111111 ENSG00000146005 chr5:139837754-139837754;G/A missense_variant False PRKACB@p.A233V 1 0.074906367 ENSG00000142875 chr1:84202738-84202738;C/T missense_variant False PSD2@p.D355N 1 0.432989691 ENSG00000146005 chr5:139817527-139817527;G/A missense_variant False PRKACB@p.T279A 1 0.512195122 ENSG00000142875 chr1:84214222-84214222;A/G missense_variant False PRKACG@p.E92G 1 0.538461538 ENSG00000165059 chr9:69013818-69013818;T/C missense_variant False PRKACG@p.N91K 1 0.519480519 ENSG00000165059 chr9:69013820-69013820;G/C missense_variant False PRKAG1@p.G311R 1 0.313953488 ENSG00000181929 chr12:49002964-49002964;C/G missense_variant False PRKAG1@p.S6C 1 0.617647059 ENSG00000181929 chr12:49013103-49013103;G/C missense_variant False PSD2@p.D262N 1 0.5 ENSG00000146005 chr5:139813721-139813721;G/A missense_variant False PRKAR1A@p.L303V 1 0.244755245 ENSG00000108946 chr17:68529935-68529935;C/G missense_variant False PSD2@p.D132N 1 0.358490566 ENSG00000146005 chr5:139813331-139813331;G/A missense_variant False PSAT1@p.V7G 1 0.380952381 ENSG00000135069 chr9:78297230-78297230;T/G missense_variant False PSAT1@p.L330M 1 0.384615385 ENSG00000135069 chr9:78328169-78328169;T/A missense_variant False PRKAR1A@p.P85T 1 0.431372549 ENSG00000108946 chr17:68522831-68522831;C/A missense_variant False PSAT1@p.A310V 1 0.48 ENSG00000135069 chr9:78328110-78328110;C/T missense_variant False PSAPL1@p.R123C 1 0.208333333 ENSG00000178597 chr4:7434513-7434513;G/A missense_variant False PRG4@p.R1284K 1 0.446043165 ENSG00000116690 chr1:186312232-186312232;G/A missense_variant False PRG4@p.R1042T 1 0.246376812 ENSG00000116690 chr1:186308844-186308844;G/C missense_variant False PSD@p.E28K 1 0.418181818 ENSG00000059915 chr10:102416957-102416957;C/T missense_variant False PRELID3A@p.M29I 1 0.545454545 ENSG00000141391 chr18:12420379-12420379;G/T missense_variant False PSG3@p.R285T 1 0.19112628 ENSG00000221826 chr19:42729912-42729912;C/G missense_variant False PREP@p.E558K 1 0.620689655 ENSG00000085377 chr6:105278407-105278407;C/T missense_variant False PSG3@p.P264T 1 0.418994413 ENSG00000221826 chr19:42729976-42729976;G/T missense_variant False PREP@p.P191S 1 0.214689266 ENSG00000085377 chr6:105353026-105353026;G/A missense_variant False PREP@p.P8L 1 0.220858896 ENSG00000085377 chr6:105377419-105377419;G/A missense_variant False PSG3@p.L297V 1 0.08677686 ENSG00000221826 chr19:42729877-42729877;G/C missense_variant False PREPL@p.D159N 1 0.286956522 ENSG00000138078 chr2:44343886-44343886;C/T missense_variant False PREPL@p.D330H 1 0.21875 ENSG00000138078 chr2:44338518-44338518;C/G missense_variant False PSG3@p.L235V 1 0.270531401 ENSG00000221826 chr19:42732790-42732790;G/C missense_variant False PREPL@p.E276K 1 0.622807018 ENSG00000138078 chr2:44339290-44339290;C/T missense_variant False PREPL@p.E424K 1 0.141304348 ENSG00000138078 chr2:44332542-44332542;C/T missense_variant False PSG3@p.H191Q 1 0.076704545 ENSG00000221826 chr19:42732920-42732920;G/T missense_variant False PREPL@p.E429K 1 0.179104478 ENSG00000138078 chr2:44332527-44332527;C/T missense_variant False PSG3@p.E363Q 1 0.072580645 ENSG00000221826 chr19:42729279-42729279;C/G missense_variant False PREPL@p.E709Q 1 0.642857143 ENSG00000138078 chr2:44321415-44321415;C/G missense_variant False PSG2@p.S196C 1 0.130831643 ENSG00000242221 chr19:43075476-43075476;G/C missense_variant False PREPL@p.E719K 1 0.325581395 ENSG00000138078 chr2:44321385-44321385;C/T missense_variant False PREX1@p.E1203K 1 0.14 ENSG00000124126 chr20:48642484-48642484;C/T missense_variant False PSG2@p.P174L 1 0.172151899 ENSG00000242221 chr19:43075542-43075542;G/A missense_variant False PREX1@p.H1606N 1 0.25 ENSG00000124126 chr20:48627914-48627914;G/T missense_variant False PREX1@p.L1033M 1 0.238095238 ENSG00000124126 chr20:48649508-48649508;A/T missense_variant False PREX1@p.L622V 1 0.147540984 ENSG00000124126 chr20:48659936-48659936;G/C missense_variant False PSG2@p.N264S 1 0.344444444 ENSG00000242221 chr19:43071873-43071873;T/C missense_variant False PREX1@p.R1649H 1 0.171428571 ENSG00000124126 chr20:48625919-48625919;C/T missense_variant False PSG2@p.L75H 1 0.08318264 ENSG00000242221 chr19:43081087-43081087;A/T missense_variant False PRELID3B@p.G47E 1 0.152 ENSG00000101166 chr20:59038527-59038527;C/T missense_variant False PREB@p.G299S 1 0.100628931 ENSG00000138073 chr2:27132261-27132261;C/T missense_variant False PRG4@p.M1040T 1 0.086021505 ENSG00000116690 chr1:186308838-186308838;T/C missense_variant False PSG3@p.S406C 1 0.208450704 ENSG00000221826 chr19:42729149-42729149;G/C missense_variant False PRDM9@p.R758H 1 0.471014493 ENSG00000164256 chr5:23527361-23527361;G/A missense_variant False PRDM9@p.S446N 1 0.503546099 ENSG00000164256 chr5:23526425-23526425;G/A missense_variant False PRDX1@p.D182N 1 0.363636364 ENSG00000117450 chr1:45511385-45511385;C/T missense_variant False PSG6@p.I66M 1 0.220447284 ENSG00000170848 chr19:42916354-42916354;G/C missense_variant False PRDX1@p.I184M 1 0.316455696 ENSG00000117450 chr1:45511377-45511377;G/C missense_variant False PSG6@p.I245M 1 0.06504065 ENSG00000170848 chr19:42907826-42907826;G/C missense_variant False PRDX2@p.I55S 1 0.444444444 ENSG00000167815 chr19:12801009-12801009;A/C missense_variant False PSG5@p.V164F 1 0.265225933 ENSG00000204941 chr19:43176089-43176089;C/A missense_variant False PRDX2@p.L45V 1 0.425925926 ENSG00000167815 chr19:12801040-12801040;G/C missense_variant False PRDX3@p.S237C 1 0.142857143 ENSG00000165672 chr10:119169184-119169184;G/C missense_variant False PRDX4@p.E136Q 1 0.571428571 ENSG00000123131 chrX:23675036-23675036;G/C missense_variant False PRDX4@p.E254K 1 0.082125604 ENSG00000123131 chrX:23683700-23683700;G/A missense_variant False PRDX4@p.K240E 1 0.333333333 ENSG00000123131 chrX:23682514-23682514;A/G missense_variant False PRDX4@p.Q233E 1 0.862068966 ENSG00000123131 chrX:23682493-23682493;C/G missense_variant False PSG5@p.L107M 1 0.188172043 ENSG00000204941 chr19:43184893-43184893;G/T missense_variant False PSG4@p.R88T 1 0.269230769 ENSG00000243137 chr19:43204053-43204053;C/G missense_variant False PRDX4@p.R139S 1 0.907407407 ENSG00000123131 chrX:23675047-23675047;A/T missense_variant False PSG4@p.L62V 1 0.112903226 ENSG00000243137 chr19:43204132-43204132;G/C missense_variant False PRDX4@p.T126A 1 0.729166667 ENSG00000123131 chrX:23675006-23675006;A/G missense_variant False PSG4@p.K267N 1 0.186915888 ENSG00000243137 chr19:43195182-43195182;C/G missense_variant False PRDX5@p.D198N 1 0.421052632 ENSG00000126432 chr11:64321638-64321638;G/A missense_variant False PRDX5@p.S12L 1 0.137254902 ENSG00000126432 chr11:64318250-64318250;C/T missense_variant False PRDX6@p.D158N 1 0.234817814 ENSG00000117592 chr1:173486327-173486327;G/A missense_variant False PRDX6@p.E124K 1 0.064285714 ENSG00000117592 chr1:173485478-173485478;G/A missense_variant False PRDX6@p.R108W 1 0.27173913 ENSG00000117592 chr1:173485430-173485430;C/T missense_variant False PREX1@p.R902K 1 0.225490196 ENSG00000124126 chr20:48651006-48651006;C/T missense_variant False PREX1@p.S1191C 1 0.558823529 ENSG00000124126 chr20:48644438-48644438;G/C missense_variant False PREX1@p.S655L 1 0.348133199 ENSG00000124126 chr20:48658146-48658146;G/A missense_variant False PSG2@p.L331F 1 0.181818182 ENSG00000242221 chr19:43066574-43066574;G/A missense_variant False PSEN2@p.Q312E 1 0.25 ENSG00000288674 chr1:226891325-226891325;C/G missense_variant False PSEN2@p.L172F 1 0.175824176 ENSG00000288674 chr1:226888108-226888108;G/C missense_variant False PRF1@p.D492N 1 0.086419753 ENSG00000180644 chr10:70598247-70598247;C/T missense_variant False PRF1@p.G476R 1 0.254098361 ENSG00000180644 chr10:70598295-70598295;C/T missense_variant False PRF1@p.K282M 1 0.136363636 ENSG00000180644 chr10:70598876-70598876;T/A missense_variant False PSEN1@p.R33T 1 0.191489362 ENSG00000080815 chr14:73170807-73170807;G/C missense_variant False PRF1@p.L85V 1 0.142857143 ENSG00000180644 chr10:70600650-70600650;G/C missense_variant False PSEN1@p.F386L 1 0.4 ENSG00000080815 chr14:73217154-73217154;C/A missense_variant False PRF1@p.Q485E 1 0.104166667 ENSG00000180644 chr10:70598268-70598268;G/C missense_variant False PSEN1@p.E3K 1 0.245614035 ENSG00000080815 chr14:73148026-73148026;G/A missense_variant False PRF1@p.R177C 1 0.45 ENSG00000180644 chr10:70600374-70600374;G/A missense_variant False PSEN1@p.D31N 1 0.098039216 ENSG00000080815 chr14:73170800-73170800;G/A missense_variant False PRF1@p.T295A 1 0.264705882 ENSG00000180644 chr10:70598838-70598838;T/C missense_variant False PSD@p.S990F 1 0.225806452 ENSG00000059915 chr10:102403306-102403306;G/A missense_variant False PRG2@p.A151T 1 0.235294118 ENSG00000186652 chr11:57388624-57388624;C/T missense_variant False PRG2@p.E56K 1 0.232142857 ENSG00000186652 chr11:57389210-57389210;C/T missense_variant False PSD@p.S87L 1 0.105263158 ENSG00000059915 chr10:102416779-102416779;G/A missense_variant False PRG2@p.K97T 1 0.174603175 ENSG00000186652 chr11:57389086-57389086;T/G missense_variant False PRG3@p.T53S 1 0.243243243 ENSG00000156575 chr11:57379712-57379712;T/A missense_variant False PSD@p.P55H 1 0.153846154 ENSG00000059915 chr10:102416875-102416875;G/T missense_variant False PSD@p.L565M 1 0.47761194 ENSG00000059915 chr10:102412436-102412436;G/T missense_variant False PRG4@p.E152Q 1 0.070588235 ENSG00000116690 chr1:186304242-186304242;G/C missense_variant False PRG4@p.E940Q 1 0.212903226 ENSG00000116690 chr1:186308537-186308537;G/C missense_variant False PRG4@p.K1263N 1 0.361111111 ENSG00000116690 chr1:186311592-186311592;G/C missense_variant False PSD@p.G95R 1 0.178571429 ENSG00000059915 chr10:102416756-102416756;C/T missense_variant False PRF1@p.D165N 1 0.130434783 ENSG00000180644 chr10:70600410-70600410;C/T missense_variant False PSG11@p.D50H 1 0.260303688 ENSG00000243130 chr19:43024973-43024973;C/G missense_variant False PREX2@p.S923F 1 0.135135135 ENSG00000046889 chr8:68108161-68108161;C/T missense_variant False PREX2@p.E762G 1 0.120689655 ENSG00000046889 chr8:68093639-68093639;A/G missense_variant False PREX1@p.S670C 1 0.321428571 ENSG00000124126 chr20:48657154-48657154;G/C missense_variant False PREX1@p.V618M 1 0.35483871 ENSG00000124126 chr20:48659948-48659948;C/T missense_variant False PSG2@p.I166N 1 0.403508772 ENSG00000242221 chr19:43075566-43075566;A/T missense_variant False PREX2@p.A1497V 1 0.173913043 ENSG00000046889 chr8:68192411-68192411;C/T missense_variant False PREX2@p.D1454H 1 0.281690141 ENSG00000046889 chr8:68191735-68191735;G/C missense_variant False PREX2@p.D269N 1 0.279069767 ENSG00000046889 chr8:68038258-68038258;G/A missense_variant False PSG2@p.H12P 1 0.230088496 ENSG00000242221 chr19:43082535-43082535;T/G missense_variant False PREX2@p.E308D 1 0.142857143 ENSG00000046889 chr8:68044571-68044571;G/T missense_variant False PSG2@p.D50A 1 0.200892857 ENSG00000242221 chr19:43081162-43081162;T/G missense_variant False PSG1@p.R382C 1 0.302931596 ENSG00000231924 chr19:42868200-42868200;G/A missense_variant False PREX2@p.E440K 1 0.397727273 ENSG00000046889 chr8:68060758-68060758;G/A missense_variant False PREX2@p.F863Lfs*8 1 0.136363636 ENSG00000046889 chr8:68099714-68099714;T/- frameshift_variant False PREX2@p.S753Y 1 0.216374269 ENSG00000046889 chr8:68093612-68093612;C/A missense_variant False PREX2@p.H1404Y 1 0.166666667 ENSG00000046889 chr8:68146331-68146331;C/T missense_variant False PREX2@p.K400Q 1 0.042253521 ENSG00000046889 chr8:68055934-68055934;A/C missense_variant False PSG1@p.E218Q 1 0.147058824 ENSG00000231924 chr19:42871824-42871824;C/G missense_variant False PREX2@p.L768F 1 0.1125 ENSG00000046889 chr8:68093656-68093656;C/T missense_variant False PREX2@p.N210K 1 0.042857143 ENSG00000046889 chr8:68030583-68030583;C/A missense_variant False PREX2@p.Q217L 1 0.430379747 ENSG00000046889 chr8:68030603-68030603;A/T missense_variant False PREX2@p.R1421Efs*13 1 0.133333333 ENSG00000046889 chr8:68157351-68157351;A/- frameshift_variant False PSG1@p.E145D 1 0.072727273 ENSG00000231924 chr19:42872041-42872041;C/G missense_variant False PREX2@p.R461T 1 0.346153846 ENSG00000046889 chr8:68069075-68069075;G/C missense_variant False PSG11@p.L204V 1 0.18556701 ENSG00000243130 chr19:43018869-43018869;G/C missense_variant False PREX2@p.R488H 1 0.461538462 ENSG00000046889 chr8:68069854-68069854;G/A missense_variant False A1BG@p.E203Q 1 0.342857143 ENSG00000121410 chr19:58352289-58352289;C/G missense_variant False POLG@p.R802S 1 0.345177665 ENSG00000140521 chr15:89322762-89322762;C/A missense_variant False POU3F2@p.E271K 1 0.140939597 ENSG00000184486 chr6:98835684-98835684;G/A missense_variant False PIP4K2B@p.R208W 1 0.227848101 ENSG00000276293 chr17:38779415-38779415;G/A missense_variant False PIP4K2C@p.R268T 1 0.083333333 ENSG00000166908 chr12:57600427-57600427;G/C missense_variant False PIP4K2C@p.L211F 1 0.339285714 ENSG00000166908 chr12:57599182-57599182;C/T missense_variant False PIP4K2C@p.I400M 1 0.365591398 ENSG00000166908 chr12:57601540-57601540;C/G missense_variant False PIP4K2C@p.F24L 1 0.389830508 ENSG00000166908 chr12:57591361-57591361;C/A missense_variant False PIP4K2C@p.E308K 1 0.146341463 ENSG00000166908 chr12:57600919-57600919;G/A missense_variant False PIP4K2C@p.E264Q 1 0.206349206 ENSG00000166908 chr12:57600414-57600414;G/C missense_variant False PIP4K2B@p.F183L 1 0.276923077 ENSG00000276293 chr17:38779488-38779488;G/C missense_variant False PINX1@p.T205M 1 0.543610548 ENSG00000258724 chr8:10765774-10765774;G/A missense_variant False PIP4K2A@p.Y353F 1 0.303703704 ENSG00000150867 chr10:22540053-22540053;T/A missense_variant False PIP4K2A@p.S222T 1 0.147368421 ENSG00000150867 chr10:22567864-22567864;C/G missense_variant False PIP4K2A@p.R285T 1 0.373737374 ENSG00000150867 chr10:22541986-22541986;C/G missense_variant False PIP4K2A@p.K244N 1 0.166666667 ENSG00000150867 chr10:22550719-22550719;C/A missense_variant False PIP4K2A@p.F88L 1 0.12195122 ENSG00000150867 chr10:22608002-22608002;G/C missense_variant False PIP4K2A@p.E303K 1 0.561643836 ENSG00000150867 chr10:22541933-22541933;C/T missense_variant False PIP4P2@p.K94N 1 0.41025641 ENSG00000155099 chr8:91020237-91020237;C/A missense_variant False PIP4P2@p.L12V 1 0.482758621 ENSG00000155099 chr8:91040716-91040716;G/C missense_variant False PIP4P2@p.M200I 1 0.290322581 ENSG00000155099 chr8:90996684-90996684;C/T missense_variant False PIP4P2@p.P54L 1 0.207920792 ENSG00000155099 chr8:91021350-91021350;G/A missense_variant False PIP4P2@p.R112Q 1 0.100775194 ENSG00000155099 chr8:91020184-91020184;C/T missense_variant False PIP5K1A@p.E338Q 1 0.183673469 ENSG00000143398 chr1:151236630-151236630;G/C missense_variant False PIP5K1A@p.E524K 1 0.264150943 ENSG00000143398 chr1:151242497-151242497;G/A missense_variant False PIP5K1A@p.F191L 1 0.333333333 ENSG00000143398 chr1:151232637-151232637;C/G missense_variant False PIP5K1A@p.L204V 1 0.115942029 ENSG00000143398 chr1:151232674-151232674;C/G missense_variant False PIP5K1A@p.Q515H 1 0.223463687 ENSG00000143398 chr1:151242472-151242472;G/C missense_variant False PIP5K1A@p.S51L 1 0.253246753 ENSG00000143398 chr1:151224402-151224402;C/T missense_variant False PIP5K1A@p.V12L 1 0.112171838 ENSG00000143398 chr1:151199030-151199030;G/C missense_variant False PIP5K1B@p.D293H 1 0.271428571 ENSG00000107242 chr9:68917653-68917653;G/C missense_variant False PIP5K1B@p.F446S 1 0.315789474 ENSG00000107242 chr9:68935025-68935025;T/C missense_variant False PIP5K1B@p.V129M 1 0.409090909 ENSG00000107242 chr9:68889047-68889047;G/A missense_variant False PIP5K1C@p.E286K 1 0.25 ENSG00000186111 chr19:3653355-3653355;C/T missense_variant False PIP5K1C@p.E388K 1 0.109090909 ENSG00000186111 chr19:3648674-3648674;C/T missense_variant False PIP4K2A@p.E229Q 1 0.203389831 ENSG00000150867 chr10:22550766-22550766;C/G missense_variant False PINX1@p.D144H 1 0.108695652 ENSG00000258724 chr8:10820234-10820234;C/G missense_variant False PLCB3@p.Q271H 1 0.076923077 ENSG00000149782 chr11:64256490-64256490;G/T missense_variant False PIK3R6@p.V164L 1 0.302325581 ENSG00000276231 chr17:8835428-8835428;C/A missense_variant False PIKFYVE@p.H1993Y 1 0.179310345 ENSG00000115020 chr2:208354030-208354030;C/T missense_variant False PIKFYVE@p.G460E 1 0.075949367 ENSG00000115020 chr2:208304229-208304229;G/A missense_variant False PIKFYVE@p.G1024E 1 0.764705882 ENSG00000115020 chr2:208325882-208325882;G/A missense_variant False PIKFYVE@p.E2048Q 1 0.192982456 ENSG00000115020 chr2:208354606-208354606;G/C missense_variant False PIKFYVE@p.D247A 1 0.450819672 ENSG00000115020 chr2:208285852-208285852;A/C missense_variant False PIKFYVE@p.D1144G 1 0.154761905 ENSG00000115020 chr2:208326242-208326242;A/G missense_variant False PIK3R6@p.S194F 1 0.333333333 ENSG00000276231 chr17:8835337-8835337;G/A missense_variant False PINX1@p.A187T 1 0.484057971 ENSG00000258724 chr8:10765829-10765829;C/T missense_variant False PIK3R6@p.E239K 1 0.461538462 ENSG00000276231 chr17:8832976-8832976;C/T missense_variant False PIK3R6@p.E162K 1 0.135135135 ENSG00000276231 chr17:8835434-8835434;C/T missense_variant False PIK3R5@p.R251W 1 0.324561404 ENSG00000141506 chr17:8890033-8890033;G/A missense_variant False PIK3R5@p.E248Q 1 0.135416667 ENSG00000141506 chr17:8890042-8890042;C/G missense_variant False PIK3R5@p.A705S 1 0.28 ENSG00000141506 chr17:8886244-8886244;C/A missense_variant False PIK3R4@p.S727F 1 0.265306122 ENSG00000196455 chr3:130716547-130716547;G/A missense_variant False PIKFYVE@p.L1110V 1 0.054054054 ENSG00000115020 chr2:208326139-208326139;C/G missense_variant False PIKFYVE@p.L705I 1 0.084745763 ENSG00000115020 chr2:208320282-208320282;C/A missense_variant False PIKFYVE@p.P1719L 1 0.447916667 ENSG00000115020 chr2:208346094-208346094;C/T missense_variant False PIKFYVE@p.Q1925E 1 0.617391304 ENSG00000115020 chr2:208352711-208352711;C/G missense_variant False PIKFYVE@p.Q867E 1 0.235294118 ENSG00000115020 chr2:208325410-208325410;C/G missense_variant False PIKFYVE@p.Q867L 1 0.0875 ENSG00000115020 chr2:208325411-208325411;A/T missense_variant False PIKFYVE@p.S1076C 1 0.358024691 ENSG00000115020 chr2:208326038-208326038;C/G missense_variant False PIKFYVE@p.S1226F 1 0.586206897 ENSG00000115020 chr2:208328238-208328238;C/T missense_variant False PIKFYVE@p.S1421L 1 0.292682927 ENSG00000115020 chr2:208335798-208335798;C/T missense_variant False PIKFYVE@p.S189C 1 0.214285714 ENSG00000115020 chr2:208277660-208277660;A/T missense_variant False PIKFYVE@p.S299F 1 0.645833333 ENSG00000115020 chr2:208288803-208288803;C/T missense_variant False PILRB@p.H90Sfs*131 1 0.261146497 ENSG00000121716 chr7:100358890-100358891;-/T frameshift_variant False PILRB@p.R73W 1 0.180722892 ENSG00000121716 chr7:100358842-100358842;C/T missense_variant False PIM1@p.R57C 1 0.243243243 ENSG00000137193 chr6:37170859-37170859;C/T missense_variant False PIM2@p.P193H 1 0.416666667 ENSG00000102096 chrX:48915037-48915037;G/T missense_variant False PINK1@p.E348Kfs*16 1 0.36 ENSG00000158828 chr1:20645641-20645641;G/- frameshift_variant False PINK1@p.Q239H 1 0.294117647 ENSG00000158828 chr1:20639933-20639933;G/T missense_variant False PIP5K1C@p.K72R 1 0.414772727 ENSG00000186111 chr19:3664826-3664826;T/C missense_variant False PIP5K1C@p.P454A 1 0.050847458 ENSG00000186111 chr19:3644237-3644237;G/C missense_variant False PIP5K1C@p.R244C 1 0.277777778 ENSG00000186111 chr19:3653481-3653481;G/A missense_variant False PIWIL1@p.S330N 1 0.226666667 ENSG00000125207 chr12:130349912-130349912;G/A missense_variant False PIWIL2@p.Q265E 1 0.54954955 ENSG00000197181 chr8:22287577-22287577;C/G missense_variant False PIWIL2@p.M500I 1 0.333333333 ENSG00000197181 chr8:22305971-22305971;G/A missense_variant False PIWIL2@p.G52E 1 0.294117647 ENSG00000197181 chr8:22279541-22279541;G/A missense_variant False PIWIL2@p.F258L 1 0.545454545 ENSG00000197181 chr8:22287558-22287558;C/G missense_variant False PIWIL2@p.E968K 1 0.617647059 ENSG00000197181 chr8:22355485-22355485;G/A missense_variant False PIWIL2@p.E620V 1 0.493273543 ENSG00000197181 chr8:22311170-22311170;A/T missense_variant False PIWIL1@p.R827C 1 0.351851852 ENSG00000125207 chr12:130371491-130371491;C/T missense_variant False PIP5K1C@p.R484W 1 0.682926829 ENSG00000186111 chr19:3644147-3644147;G/A missense_variant False PIWIL1@p.R641W 1 0.116129032 ENSG00000125207 chr12:130361552-130361552;C/T missense_variant False PIWIL1@p.R275Q 1 0.5 ENSG00000125207 chr12:130349328-130349328;G/A missense_variant False PIWIL1@p.H429Y 1 0.443820225 ENSG00000125207 chr12:130355001-130355001;C/T missense_variant False PIWIL1@p.G465D 1 0.083333333 ENSG00000125207 chr12:130355657-130355657;G/A missense_variant False PIWIL1@p.D240N 1 0.152941176 ENSG00000125207 chr12:130348167-130348167;G/A missense_variant False PIWIL1@p.A380G 1 0.307692308 ENSG00000125207 chr12:130354631-130354631;C/G missense_variant False PIWIL3@p.C602F 1 0.088607595 ENSG00000184571 chr22:24728304-24728304;C/A missense_variant False PIWIL3@p.E498K 1 0.304054054 ENSG00000184571 chr22:24735850-24735850;C/T missense_variant False PIWIL3@p.Q139K 1 0.173913043 ENSG00000184571 chr22:24756646-24756646;G/T missense_variant False PIWIL3@p.Q273E 1 0.518072289 ENSG00000184571 chr22:24754174-24754174;G/C missense_variant False PIWIL3@p.Q306H 1 0.15 ENSG00000184571 chr22:24754073-24754073;C/G missense_variant False PIWIL3@p.Q40E 1 0.12109375 ENSG00000184571 chr22:24759974-24759974;G/C missense_variant False PIWIL4@p.G514R 1 0.196202532 ENSG00000134627 chr11:94601954-94601954;G/A missense_variant False PIWIL4@p.I52V 1 0.096153846 ENSG00000134627 chr11:94568796-94568796;A/G missense_variant False PIWIL4@p.P571S 1 0.358024691 ENSG00000134627 chr11:94607511-94607511;C/T missense_variant False PIWIL4@p.S451L 1 0.452380952 ENSG00000134627 chr11:94597887-94597887;C/T missense_variant False PJA1@p.G434A 1 0.424242424 ENSG00000181191 chrX:69161938-69161938;C/G missense_variant False PJA1@p.Q63E 1 0.621052632 ENSG00000181191 chrX:69163052-69163052;G/C missense_variant False PJA1@p.R343C 1 0.75 ENSG00000181191 chrX:69162212-69162212;G/A missense_variant False PJA1@p.S107L 1 0.171641791 ENSG00000181191 chrX:69162919-69162919;G/A missense_variant False PJA2@p.D377H 1 0.156862745 ENSG00000198961 chr5:109378358-109378358;C/G missense_variant False PJA2@p.E448Q 1 0.23655914 ENSG00000198961 chr5:109368688-109368688;C/G missense_variant False PJA2@p.L597V 1 0.504347826 ENSG00000198961 chr5:109344795-109344795;G/C missense_variant False PITX3@p.S47L 1 0.307692308 ENSG00000107859 chr10:102231769-102231769;G/A missense_variant False PITX3@p.K60N 1 0.818181818 ENSG00000107859 chr10:102231729-102231729;C/G missense_variant False PITX3@p.E121K 1 0.285714286 ENSG00000107859 chr10:102231062-102231062;C/T missense_variant False PITPNM1@p.E247D 1 0.170798898 ENSG00000110697 chr11:67500321-67500321;C/G missense_variant False PIP5K1C@p.S342L 1 0.259259259 ENSG00000186111 chr19:3651928-3651928;G/A missense_variant False PIP5K1C@p.S541L 1 0.24 ENSG00000186111 chr19:3643270-3643270;G/A missense_variant False PIP@p.L78P 1 0.092307692 ENSG00000159763 chr7:143139106-143139106;T/C missense_variant False PIPOX@p.E281K 1 0.212765957 ENSG00000179761 chr17:29055096-29055096;G/A missense_variant False PIPOX@p.L7I 1 0.185185185 ENSG00000179761 chr17:29043244-29043244;C/A missense_variant False PIPOX@p.Y321H 1 0.182352941 ENSG00000179761 chr17:29055216-29055216;T/C missense_variant False PISD@p.F315L 1 0.35 ENSG00000241878 chr22:31620613-31620613;G/T missense_variant False PISD@p.H133Q 1 0.411764706 ENSG00000241878 chr22:31621808-31621808;G/C missense_variant False PISD@p.T55S 1 0.625 ENSG00000241878 chr22:31648258-31648258;G/C missense_variant False PITHD1@p.M105I 1 0.413793103 ENSG00000057757 chr1:23779936-23779936;G/A missense_variant False PITHD1@p.M94V 1 0.345454545 ENSG00000057757 chr1:23779901-23779901;A/G missense_variant False PITPNC1@p.E127K 1 0.88 ENSG00000154217 chr17:67632155-67632155;G/A missense_variant False PITPNC1@p.V131L 1 0.25 ENSG00000154217 chr17:67632167-67632167;G/C missense_variant False PITPNM1@p.D118N 1 0.249122807 ENSG00000110697 chr11:67502355-67502355;C/T missense_variant False PITPNM1@p.E890D 1 0.365384615 ENSG00000110697 chr11:67494918-67494918;C/A missense_variant False PITX2@p.S199F 1 0.135135135 ENSG00000164093 chr4:110618483-110618483;G/A missense_variant False PITPNM1@p.R340Q 1 0.35483871 ENSG00000110697 chr11:67499958-67499958;C/T missense_variant False PITPNM2@p.D448N 1 0.12195122 ENSG00000090975 chr12:122997455-122997455;C/T missense_variant False PITPNM2@p.D50H 1 0.491803279 ENSG00000090975 chr12:123013973-123013973;C/G missense_variant False PITPNM2@p.D721_L722insP 1 0.171428571 ENSG00000090975 chr12:122994869-122994870;-/GGG inframe_insertion False PITPNM2@p.E976K 1 0.221428571 ENSG00000090975 chr12:122988305-122988305;C/T missense_variant False PITPNM2@p.G53R 1 0.257575758 ENSG00000090975 chr12:123013964-123013964;C/G missense_variant False PITPNM2@p.P792A 1 0.246575342 ENSG00000090975 chr12:122992529-122992529;G/C missense_variant False PITPNM2@p.R312W 1 0.139784946 ENSG00000090975 chr12:123005258-123005258;G/A missense_variant False PITPNM2@p.V104M 1 0.175 ENSG00000090975 chr12:123012718-123012718;C/T missense_variant False PITPNM3@p.D933N 1 0.409090909 ENSG00000091622 chr17:6455466-6455466;C/T missense_variant False PITPNM3@p.R925K 1 0.769230769 ENSG00000091622 chr17:6455489-6455489;C/T missense_variant False PITRM1@p.L226F 1 0.25 ENSG00000107959 chr10:3163840-3163840;G/A missense_variant False PITX1@p.E105K 1 0.288888889 ENSG00000069011 chr5:135031365-135031365;C/T missense_variant False PITX2@p.P235R 1 0.367346939 ENSG00000164093 chr4:110618375-110618375;G/C missense_variant False PIK3R4@p.P199A 1 0.216216216 ENSG00000196455 chr3:130744624-130744624;G/C missense_variant False PIK3R4@p.L494V 1 0.39 ENSG00000196455 chr3:130730413-130730413;G/C missense_variant False PIK3R4@p.L422F 1 0.272189349 ENSG00000196455 chr3:130733734-130733734;G/A missense_variant False PIK3C2A@p.S259F 1 0.389830508 ENSG00000011405 chr11:17168966-17168966;G/A missense_variant False PIK3C2B@p.Q966Sfs*20 1 0.129277567 ENSG00000133056 chr1:204443566-204443569;ACTG/- frameshift_variant False PIK3C2B@p.N1395_T1396insV 1 0.222222222 ENSG00000133056 chr1:204431763-204431764;-/AAC inframe_insertion False PIK3C2B@p.H675D 1 0.078431373 ENSG00000133056 chr1:204454712-204454712;G/C missense_variant False PIK3C2B@p.F1406S 1 0.050314465 ENSG00000133056 chr1:204431732-204431732;A/G missense_variant False PIK3C2B@p.E1175K 1 0.2 ENSG00000133056 chr1:204434602-204434602;C/T missense_variant False PIK3C2B@p.C429S 1 0.408071749 ENSG00000133056 chr1:204464037-204464037;A/T missense_variant False PIK3C2A@p.S1457L 1 0.470588235 ENSG00000011405 chr11:17094342-17094342;G/A missense_variant False PIK3C3@p.Q347H 1 0.541666667 ENSG00000078142 chr18:42004412-42004412;G/T missense_variant False PIK3C2A@p.S128L 1 0.449275362 ENSG00000011405 chr11:17169359-17169359;G/A missense_variant False PIK3C2A@p.Q770K 1 0.15 ENSG00000011405 chr11:17129391-17129391;G/T missense_variant False PIK3C2A@p.Q1349E 1 0.201680672 ENSG00000011405 chr11:17099933-17099933;G/C missense_variant False PIK3C2A@p.L1652V 1 0.406349206 ENSG00000011405 chr11:17089845-17089845;G/C missense_variant False PIK3C2A@p.L1034V 1 0.166666667 ENSG00000011405 chr11:17117607-17117607;G/C missense_variant False PIK3C2A@p.I1475V 1 0.696969697 ENSG00000011405 chr11:17094289-17094289;T/C missense_variant False PIK3C2B@p.R672Q 1 0.086956522 ENSG00000133056 chr1:204454720-204454720;C/T missense_variant False PIK3C2B@p.R843Q 1 0.236363636 ENSG00000133056 chr1:204446106-204446106;C/T missense_variant False PIK3C2B@p.R901C 1 0.454545455 ENSG00000133056 chr1:204444402-204444402;G/A missense_variant False PIK3C2B@p.S1326N 1 0.064516129 ENSG00000133056 chr1:204432378-204432378;C/T missense_variant False PIK3C2B@p.S139C 1 0.588235294 ENSG00000133056 chr1:204469387-204469387;G/C missense_variant False PIK3C2B@p.S150C 1 0.077922078 ENSG00000133056 chr1:204469354-204469354;G/C missense_variant False PIK3C2B@p.S911L 1 0.153846154 ENSG00000133056 chr1:204444371-204444371;G/A missense_variant False PIK3C2G@p.D911N 1 0.192307692 ENSG00000139144 chr12:18491496-18491496;G/A missense_variant False PIK3C2G@p.E190K 1 0.3 ENSG00000139144 chr12:18282649-18282649;G/A missense_variant False PIK3C2G@p.E480Q 1 0.12037037 ENSG00000139144 chr12:18346649-18346649;G/C missense_variant False PIK3C2G@p.E728K 1 0.30952381 ENSG00000139144 chr12:18399714-18399714;G/A missense_variant False PIK3C2G@p.H260Y 1 0.277777778 ENSG00000139144 chr12:18290871-18290871;C/T missense_variant False PIK3C2G@p.M993I 1 0.129032258 ENSG00000139144 chr12:18497711-18497711;G/A missense_variant False PIK3C2G@p.N87I 1 0.1 ENSG00000139144 chr12:18282341-18282341;A/T missense_variant False PIK3C2G@p.Q1231H 1 0.222222222 ENSG00000139144 chr12:18562805-18562805;G/T missense_variant False PIK3C2G@p.R968C 1 0.180327869 ENSG00000139144 chr12:18497634-18497634;C/T missense_variant False PIK3C3@p.G763R 1 0.366666667 ENSG00000078142 chr18:42057906-42057906;G/A missense_variant False PIK3C2A@p.E865K 1 0.309278351 ENSG00000011405 chr11:17122252-17122252;C/T missense_variant False PIK3C2A@p.D870N 1 0.285714286 ENSG00000011405 chr11:17122237-17122237;C/T missense_variant False PIK3C2A@p.D846H 1 0.184782609 ENSG00000011405 chr11:17122309-17122309;C/G missense_variant False PIGZ@p.A307V 1 0.388059701 ENSG00000119227 chr3:196947977-196947977;G/A missense_variant False PIGT@p.S469C 1 0.140703518 ENSG00000124155 chr20:45424501-45424501;C/G missense_variant False PIGU@p.A189V 1 0.336363636 ENSG00000101464 chr20:34616103-34616103;G/A missense_variant False PIGU@p.F170L 1 0.080882353 ENSG00000101464 chr20:34634634-34634634;G/C missense_variant False PIGU@p.F274L 1 0.395348837 ENSG00000101464 chr20:34585541-34585541;G/C missense_variant False PIGU@p.P148A 1 0.147368421 ENSG00000101464 chr20:34634702-34634702;G/C missense_variant False PIGU@p.S384F 1 0.207407407 ENSG00000101464 chr20:34575147-34575147;G/A missense_variant False PIGV@p.A94T 1 0.24 ENSG00000060642 chr1:26794314-26794314;G/A missense_variant False PIGV@p.C353F 1 0.065934066 ENSG00000060642 chr1:26795092-26795092;G/T missense_variant False PIGV@p.Q324H 1 0.18 ENSG00000060642 chr1:26795006-26795006;G/C missense_variant False PIGV@p.V379L 1 0.349315068 ENSG00000060642 chr1:26795169-26795169;G/T missense_variant False PIGV@p.Y260C 1 0.419642857 ENSG00000060642 chr1:26794813-26794813;A/G missense_variant False PIGW@p.K328N 1 0.162162162 ENSG00000277161 chr17:36538085-36538085;G/C missense_variant False PIGW@p.L253F 1 0.121495327 ENSG00000277161 chr17:36537860-36537860;G/C missense_variant False PIGW@p.R155K 1 0.227586207 ENSG00000277161 chr17:36537565-36537565;G/A missense_variant False PIGZ@p.H146Y 1 0.358974359 ENSG00000119227 chr3:196948461-196948461;G/A missense_variant False PIK3C2A@p.D839N 1 0.175 ENSG00000011405 chr11:17122330-17122330;C/T missense_variant False PIH1D1@p.D256H 1 0.443113772 ENSG00000104872 chr19:49446616-49446616;C/G missense_variant False PIH1D1@p.E25K 1 0.058823529 ENSG00000104872 chr19:49451502-49451502;C/T missense_variant False PIH1D1@p.K57N 1 0.222222222 ENSG00000104872 chr19:49449641-49449641;C/G missense_variant False PIH1D1@p.V224A 1 0.686746988 ENSG00000104872 chr19:49447040-49447040;A/G missense_variant False PIH1D2@p.D107Y 1 0.436507937 ENSG00000150773 chr11:112071266-112071266;C/A missense_variant False PIH1D2@p.M180I 1 0.072727273 ENSG00000150773 chr11:112071045-112071045;C/T missense_variant False PIK3AP1@p.E380Q 1 0.50877193 ENSG00000155629 chr10:96648706-96648706;C/G missense_variant False PIK3AP1@p.E792Q 1 0.105263158 ENSG00000155629 chr10:96595621-96595621;C/G missense_variant False PIK3AP1@p.R606W 1 0.407407407 ENSG00000155629 chr10:96620477-96620477;G/A missense_variant False PIK3AP1@p.S466R 1 0.267241379 ENSG00000155629 chr10:96628471-96628471;A/T missense_variant False PIK3AP1@p.S562I 1 0.418918919 ENSG00000155629 chr10:96623522-96623522;C/A missense_variant False PIK3AP1@p.T302S 1 0.293103448 ENSG00000155629 chr10:96651331-96651331;G/C missense_variant False PIK3C2A@p.A1501G 1 0.442857143 ENSG00000011405 chr11:17092226-17092226;G/C missense_variant False PIK3C2A@p.D25Y 1 0.445255474 ENSG00000011405 chr11:17169669-17169669;C/A missense_variant False PIK3C3@p.K225E 1 0.333333333 ENSG00000078142 chr18:41990513-41990513;A/G missense_variant False PIK3C3@p.R509K 1 0.068627451 ENSG00000078142 chr18:42027484-42027484;G/A missense_variant False PIK3R4@p.L261V 1 0.742574257 ENSG00000196455 chr3:130735955-130735955;G/C missense_variant False PIK3CG@p.D884H 1 0.206349206 ENSG00000105851 chr7:106883053-106883053;G/C missense_variant False PIK3CG@p.Y6C 1 0.257142857 ENSG00000105851 chr7:106867578-106867578;A/G missense_variant False PIK3CG@p.W125C 1 0.380952381 ENSG00000105851 chr7:106867936-106867936;G/C missense_variant False PIK3CG@p.L1018V 1 0.229268293 ENSG00000105851 chr7:106905130-106905130;C/G missense_variant False PIK3CG@p.E852Q 1 0.369565217 ENSG00000105851 chr7:106882132-106882132;G/C missense_variant False PIK3CG@p.E302Q 1 0.166666667 ENSG00000105851 chr7:106868465-106868465;G/C missense_variant False PIK3CG@p.E263K 1 0.472727273 ENSG00000105851 chr7:106868348-106868348;G/A missense_variant False PIK3CG@p.D819E 1 0.146341463 ENSG00000105851 chr7:106879584-106879584;T/A missense_variant False PIK3C3@p.S433Y 1 0.237113402 ENSG00000078142 chr18:42013569-42013569;C/A missense_variant False PIK3CG@p.C435Y 1 0.166666667 ENSG00000105851 chr7:106868865-106868865;G/A missense_variant False PIK3CD@p.T1007I 1 0.291666667 ENSG00000171608 chr1:9726931-9726931;C/T missense_variant False PIK3CD@p.K779N 1 0.133333333 ENSG00000171608 chr1:9722346-9722346;G/C missense_variant False PIK3CD@p.I113M 1 0.252873563 ENSG00000171608 chr1:9715738-9715738;C/G missense_variant False PIK3CD@p.H126D 1 0.428571429 ENSG00000171608 chr1:9715854-9715854;C/G missense_variant False PIK3CD@p.E873K 1 0.115384615 ENSG00000171608 chr1:9723991-9723991;G/A missense_variant False PIK3IP1@p.G185A 1 0.409090909 ENSG00000100100 chr22:31289348-31289348;C/G missense_variant False PIK3R1@p.C670Y 1 0.257668712 ENSG00000145675 chr5:68297435-68297435;G/A missense_variant True PIK3R1@p.R18K 1 0.248 ENSG00000145675 chr5:68226728-68226728;G/A missense_variant True PIK3R1@p.S147L 1 0.134146341 ENSG00000145675 chr5:68273951-68273951;C/T missense_variant True PIK3R2@p.D461H 1 0.407407407 ENSG00000105647 chr19:18163353-18163353;G/C missense_variant False PIK3R2@p.G373R 1 0.552631579 ENSG00000105647 chr19:18162974-18162974;G/A missense_variant False PIK3R2@p.K343R 1 0.31147541 ENSG00000105647 chr19:18162425-18162425;A/G missense_variant False PIK3R3@p.D99H 1 0.303278689 ENSG00000117461 chr1:46077534-46077534;C/G missense_variant False PIK3R3@p.G378A 1 0.327102804 ENSG00000117461 chr1:46045972-46045972;C/G missense_variant False PIK3R3@p.H231D 1 0.328 ENSG00000117461 chr1:46062002-46062002;G/C missense_variant False PIK3R3@p.L128V 1 0.142857143 ENSG00000117461 chr1:46067024-46067024;G/C missense_variant False PIK3R3@p.L425V 1 0.23255814 ENSG00000117461 chr1:46043786-46043786;G/C missense_variant False PIK3R3@p.R276H 1 0.227848101 ENSG00000117461 chr1:46055909-46055909;C/T missense_variant False PIK3R4@p.E17D 1 0.25 ENSG00000196455 chr3:130745168-130745168;C/G missense_variant False PIK3R4@p.F425L 1 0.311827957 ENSG00000196455 chr3:130733723-130733723;G/C missense_variant False PIK3R4@p.I13M 1 0.137096774 ENSG00000196455 chr3:130745180-130745180;G/C missense_variant False PIK3R4@p.I319M 1 0.415929204 ENSG00000196455 chr3:130734041-130734041;T/C missense_variant False PIK3CD@p.E726Q 1 0.285714286 ENSG00000171608 chr1:9722095-9722095;G/C missense_variant False PIK3CD@p.D138G 1 0.204081633 ENSG00000171608 chr1:9715891-9715891;A/G missense_variant False PIK3CB@p.V588I 1 0.258823529 ENSG00000051382 chr3:138698915-138698915;C/T missense_variant False PIK3CA@p.N345K 1 0.423076923 ENSG00000121879 chr3:179203765-179203765;T/A missense_variant True PIK3C3@p.T305S 1 0.254237288 ENSG00000078142 chr18:41996660-41996660;C/G missense_variant False PIK3CA@p.E1012Q 1 0.376470588 ENSG00000121879 chr3:179234191-179234191;G/C missense_variant True PIK3CA@p.E545A 1 0.222222222 ENSG00000121879 chr3:179218304-179218304;A/C missense_variant True PIK3CA@p.E545G 1 0.576923077 ENSG00000121879 chr3:179218304-179218304;A/G missense_variant True PIK3CA@p.E600K 1 0.291666667 ENSG00000121879 chr3:179219622-179219622;G/A missense_variant True PIK3CA@p.E710Q 1 0.455882353 ENSG00000121879 chr3:179221098-179221098;G/C missense_variant True PIK3CA@p.E726K 1 0.136363636 ENSG00000121879 chr3:179221146-179221146;G/A missense_variant True PIK3CA@p.E791Q 1 0.233333333 ENSG00000121879 chr3:179224776-179224776;G/C missense_variant True PIK3CA@p.E978K 1 0.638888889 ENSG00000121879 chr3:179230372-179230372;G/A missense_variant True PIK3CA@p.G1049R 1 0.38317757 ENSG00000121879 chr3:179234302-179234302;G/C missense_variant True PIK3CA@p.G451V 1 0.231884058 ENSG00000121879 chr3:179210286-179210286;G/T missense_variant True PIK3CA@p.L752V 1 0.273584906 ENSG00000121879 chr3:179224147-179224147;C/G missense_variant True PIK3CA@p.L956F 1 0.245098039 ENSG00000121879 chr3:179230308-179230308;G/C missense_variant True PIK3CA@p.M1004V 1 0.393939394 ENSG00000121879 chr3:179234167-179234167;A/G missense_variant True PIK3CA@p.P471A 1 0.529411765 ENSG00000121879 chr3:179210437-179210437;C/G missense_variant True PIK3CB@p.T417M 1 0.48245614 ENSG00000051382 chr3:138714520-138714520;G/A missense_variant False PIK3CA@p.Q546K 1 0.428571429 ENSG00000121879 chr3:179218306-179218306;C/A missense_variant True PIK3CA@p.Q546P 1 0.68627451 ENSG00000121879 chr3:179218307-179218307;A/C missense_variant True PIK3CA@p.Q546R 1 0.453125 ENSG00000121879 chr3:179218307-179218307;A/G missense_variant True PIK3CA@p.Q75E 1 0.329192547 ENSG00000121879 chr3:179199048-179199048;C/G missense_variant True PIK3CA@p.R115L 1 0.508196721 ENSG00000121879 chr3:179199169-179199169;G/T missense_variant True PIK3CA@p.R274K 1 0.340909091 ENSG00000121879 chr3:179203551-179203551;G/A missense_variant True PIK3CA@p.R93Q 1 0.06 ENSG00000121879 chr3:179199103-179199103;G/A missense_variant True PIK3CA@p.S499F 1 0.522727273 ENSG00000121879 chr3:179210522-179210522;C/T missense_variant True PIK3CA@p.S66C 1 0.258064516 ENSG00000121879 chr3:179199022-179199022;C/G missense_variant True PIK3CA@p.V151M 1 0.094827586 ENSG00000121879 chr3:179199788-179199788;G/A missense_variant True PIK3CA@p.V636L 1 0.147058824 ENSG00000121879 chr3:179219730-179219730;G/C missense_variant True PIK3CB@p.D190N 1 0.102362205 ENSG00000051382 chr3:138742611-138742611;C/T missense_variant False PIK3CB@p.E1047K 1 0.298850575 ENSG00000051382 chr3:138655463-138655463;C/T missense_variant False PIK3CB@p.R48W 1 0.352941176 ENSG00000051382 chr3:138759202-138759202;G/A missense_variant False PJA2@p.Q572E 1 0.325581395 ENSG00000198961 chr5:109355965-109355965;G/C missense_variant False PJA2@p.S609T 1 0.53968254 ENSG00000198961 chr5:109344758-109344758;C/G missense_variant False PKD1@p.D2930Y 1 0.684210526 ENSG00000008710 chr16:2103269-2103269;C/A missense_variant False PLA2G5@p.E30Q 1 0.215189873 ENSG00000127472 chr1:20086130-20086130;G/C missense_variant False PLA2G7@p.V148A 1 0.104134763 ENSG00000146070 chr6:46714487-46714487;A/G missense_variant False PLA2G7@p.S35L 1 0.475 ENSG00000146070 chr6:46722788-46722788;G/A missense_variant False PLA2G7@p.D73N 1 0.346534653 ENSG00000146070 chr6:46716989-46716989;C/T missense_variant False PLA2G7@p.D254N 1 0.545454545 ENSG00000146070 chr6:46710562-46710562;C/T missense_variant False PLA2G6@p.N243K 1 0.196721311 ENSG00000184381 chr22:38140050-38140050;A/T missense_variant False PLA2G6@p.G648R 1 0.25 ENSG00000184381 chr22:38115619-38115619;C/T missense_variant False PLA2G4F@p.R673W 1 0.19375 ENSG00000168907 chr15:42144103-42144103;G/A missense_variant False PLAA@p.S776F 1 0.2625 ENSG00000137055 chr9:26905572-26905572;G/A missense_variant False PLA2G4F@p.L505F 1 0.161764706 ENSG00000168907 chr15:42146146-42146146;C/G missense_variant False PLA2G4F@p.D313H 1 0.216216216 ENSG00000168907 chr15:42149835-42149835;C/G missense_variant False PLA2G4D@p.R513S 1 0.269230769 ENSG00000159337 chr15:42071808-42071808;C/A missense_variant False PLA2G4D@p.G754R 1 0.333333333 ENSG00000159337 chr15:42068912-42068912;C/G missense_variant False PLA2G4C@p.S203F 1 0.082949309 ENSG00000105499 chr19:48095565-48095565;G/A missense_variant False PLA2G4C@p.S156C 1 0.41025641 ENSG00000105499 chr19:48098240-48098240;G/C missense_variant False PLA2R1@p.D537H 1 0.127659574 ENSG00000153246 chr2:160013318-160013318;C/G missense_variant False PLA2R1@p.D537N 1 0.382978723 ENSG00000153246 chr2:160013318-160013318;C/T missense_variant False PLA2R1@p.D846N 1 0.098765432 ENSG00000153246 chr2:159976127-159976127;C/T missense_variant False PLA2R1@p.E195K 1 0.228915663 ENSG00000153246 chr2:160042109-160042109;C/T missense_variant False PLA2R1@p.E275K 1 0.307017544 ENSG00000153246 chr2:160032977-160032977;C/T missense_variant False PLA2R1@p.E927K 1 0.162162162 ENSG00000153246 chr2:159967664-159967664;C/T missense_variant False PLA2R1@p.F278L 1 0.134831461 ENSG00000153246 chr2:160032966-160032966;G/C missense_variant False PLA2R1@p.F726Y 1 0.142857143 ENSG00000153246 chr2:159983934-159983934;A/T missense_variant False PLA2R1@p.M283I 1 0.304347826 ENSG00000153246 chr2:160028956-160028956;C/G missense_variant False PLA2R1@p.P1253T 1 0.094339623 ENSG00000153246 chr2:159947512-159947512;G/T missense_variant False PLA2R1@p.Q1370E 1 0.097297297 ENSG00000153246 chr2:159944942-159944942;G/C missense_variant False PLA2R1@p.R1217C 1 0.224137931 ENSG00000153246 chr2:159949668-159949668;G/A missense_variant False PLA2R1@p.R741T 1 0.268656716 ENSG00000153246 chr2:159979876-159979876;C/G missense_variant False PLA2R1@p.S108C 1 0.327272727 ENSG00000153246 chr2:160044944-160044944;G/C missense_variant False PLA2R1@p.S456F 1 0.119565217 ENSG00000153246 chr2:160020191-160020191;G/A missense_variant False PLA2R1@p.T271I 1 0.30952381 ENSG00000153246 chr2:160032988-160032988;G/A missense_variant False PLA2R1@p.V479A 1 0.30952381 ENSG00000153246 chr2:160020122-160020122;A/G missense_variant False PLA2G4C@p.R108G 1 0.247663551 ENSG00000105499 chr19:48099796-48099796;G/C missense_variant False PLA2G4C@p.L134V 1 0.136170213 ENSG00000105499 chr19:48099718-48099718;G/C missense_variant False PLA2G4C@p.E68K 1 0.291139241 ENSG00000105499 chr19:48104643-48104643;C/T missense_variant False PLA1A@p.D206Y 1 0.4 ENSG00000144837 chr3:119613070-119613070;G/T missense_variant False PKP2@p.E335K 1 0.214285714 ENSG00000057294 chr12:32877877-32877877;C/T missense_variant False PKP2@p.G712E 1 0.145454545 ENSG00000057294 chr12:32821366-32821366;C/T missense_variant False PKP2@p.H160Y 1 0.101694915 ENSG00000057294 chr12:32878402-32878402;G/A missense_variant False PKP2@p.M351I 1 0.510948905 ENSG00000057294 chr12:32869044-32869044;C/T missense_variant False PKP2@p.S761F 1 0.116504854 ENSG00000057294 chr12:32802420-32802420;G/A missense_variant False PKP2@p.T483S 1 0.230769231 ENSG00000057294 chr12:32843244-32843244;G/C missense_variant False PKP2@p.T770S 1 0.447368421 ENSG00000057294 chr12:32796290-32796290;T/A missense_variant False PKP3@p.S768F 1 0.333333333 ENSG00000184363 chr11:404268-404268;C/T missense_variant False PKP4@p.A345T 1 0.194444444 ENSG00000144283 chr2:158625307-158625307;G/A missense_variant False PKP4@p.E491Q 1 0.267379679 ENSG00000144283 chr2:158634198-158634198;G/C missense_variant False PKP4@p.E706K 1 0.333333333 ENSG00000144283 chr2:158661355-158661355;G/A missense_variant False PKP4@p.G123A 1 0.052173913 ENSG00000144283 chr2:158621077-158621077;G/C missense_variant False PKP4@p.R211K 1 0.28358209 ENSG00000144283 chr2:158624906-158624906;G/A missense_variant False PKP4@p.S1096C 1 0.384 ENSG00000144283 chr2:158678610-158678610;A/T missense_variant False PLA1A@p.E358K 1 0.658536585 ENSG00000144837 chr3:119625183-119625183;G/A missense_variant False PLA2G4C@p.E513D 1 0.463917526 ENSG00000105499 chr19:48053038-48053038;T/G missense_variant False PLA1A@p.W100C 1 0.242774566 ENSG00000144837 chr3:119608794-119608794;G/C missense_variant False PLA2G12B@p.L103F 1 0.112149533 ENSG00000138308 chr10:72941326-72941326;C/A missense_variant False PLA2G15@p.D306H 1 0.0625 ENSG00000103066 chr16:68259334-68259334;G/C missense_variant False PLA2G15@p.D351N 1 0.552631579 ENSG00000103066 chr16:68259469-68259469;G/A missense_variant False PLA2G1B@p.C113Y 1 0.078125 ENSG00000170890 chr12:120322302-120322302;C/T missense_variant False PLA2G1B@p.E62K 1 0.313432836 ENSG00000170890 chr12:120325871-120325871;C/T missense_variant False PLA2G1B@p.N123K 1 0.279761905 ENSG00000170890 chr12:120322271-120322271;G/T missense_variant False PLA2G2A@p.R104K 1 0.192982456 ENSG00000188257 chr1:19975825-19975825;C/T missense_variant False PLA2G2E@p.Q23E 1 0.304761905 ENSG00000188784 chr1:19922729-19922729;G/C missense_variant False PLA2G2E@p.R103W 1 0.164383562 ENSG00000188784 chr1:19920429-19920429;G/A missense_variant False PLA2G2E@p.S51C 1 0.131313131 ENSG00000188784 chr1:19922644-19922644;G/C missense_variant False PLA2G3@p.E248Q 1 0.357142857 ENSG00000100078 chr22:31138316-31138316;C/G missense_variant False PLA2G3@p.R106T 1 0.393939394 ENSG00000100078 chr22:31140038-31140038;C/G missense_variant False PLA2G4A@p.F647L 1 0.910447761 ENSG00000116711 chr1:186977769-186977769;C/G missense_variant False PLAA@p.Q679H 1 0.344827586 ENSG00000137055 chr9:26905862-26905862;C/G missense_variant False PLAAT1@p.E193K 1 0.212903226 ENSG00000127252 chr3:193263092-193263092;G/A missense_variant False PKP1@p.Y447D 1 0.384615385 ENSG00000081277 chr1:201320310-201320310;T/G missense_variant False PLBD1@p.D334N 1 0.043010753 ENSG00000121316 chr12:14511556-14511556;C/T missense_variant False PLCB1@p.E751K 1 0.186440678 ENSG00000182621 chr20:8739303-8739303;G/A missense_variant False PLCB1@p.E269Q 1 0.495495495 ENSG00000182621 chr20:8658647-8658647;G/C missense_variant False PLCB1@p.E1115K 1 0.178571429 ENSG00000182621 chr20:8790181-8790181;G/A missense_variant False PLCB1@p.E1097Q 1 0.181818182 ENSG00000182621 chr20:8789528-8789528;G/C missense_variant False PLCB1@p.D834N 1 0.382352941 ENSG00000182621 chr20:8741550-8741550;G/A missense_variant False PLCB1@p.A138V 1 0.333333333 ENSG00000182621 chr20:8646130-8646130;C/T missense_variant False PLB1@p.Y1058H 1 0.203125 ENSG00000163803 chr2:28614073-28614073;T/C missense_variant False PLAAT1@p.R243G 1 0.197368421 ENSG00000127252 chr3:193270610-193270610;C/G missense_variant False PLB1@p.W1016C 1 0.113537118 ENSG00000163803 chr2:28605939-28605939;G/T missense_variant False PLB1@p.T531I 1 0.105263158 ENSG00000163803 chr2:28582093-28582093;C/T missense_variant False PLB1@p.S723F 1 0.186046512 ENSG00000163803 chr2:28591740-28591740;C/T missense_variant False PLB1@p.S335F 1 0.145833333 ENSG00000163803 chr2:28548927-28548927;C/T missense_variant False PLB1@p.S1351L 1 0.198675497 ENSG00000163803 chr2:28632993-28632993;C/T missense_variant False PLB1@p.S1126C 1 0.142857143 ENSG00000163803 chr2:28620326-28620326;C/G missense_variant False PLCB1@p.E779K 1 0.342342342 ENSG00000182621 chr20:8740370-8740370;G/A missense_variant False PLCB1@p.E912K 1 0.148148148 ENSG00000182621 chr20:8765162-8765162;G/A missense_variant False PLCB1@p.F28L 1 0.454545455 ENSG00000182621 chr20:8132733-8132733;T/C missense_variant False PLCB1@p.G433A 1 0.152542373 ENSG00000182621 chr20:8716311-8716311;G/C missense_variant False PLCB1@p.G531E 1 0.253731343 ENSG00000182621 chr20:8724666-8724666;G/A missense_variant False PLCB1@p.K839N 1 0.2 ENSG00000182621 chr20:8741567-8741567;G/C missense_variant False PLCB1@p.L66V 1 0.086956522 ENSG00000182621 chr20:8371400-8371400;C/G missense_variant False PLCB1@p.M655I 1 0.072164948 ENSG00000182621 chr20:8733314-8733314;G/A missense_variant False PLCB1@p.P170R 1 0.294520548 ENSG00000182621 chr20:8647944-8647944;C/G missense_variant False PLCB1@p.Q765E 1 0.274193548 ENSG00000182621 chr20:8739345-8739345;C/G missense_variant False PLCB1@p.V1193G 1 0.454545455 ENSG00000182621 chr20:8881776-8881776;T/G missense_variant False PLCB2@p.E962Q 1 0.333333333 ENSG00000137841 chr15:40291170-40291170;C/G missense_variant False PLCB2@p.M291V 1 0.285714286 ENSG00000137841 chr15:40298688-40298688;T/C missense_variant False PLCB2@p.Q599H 1 0.214285714 ENSG00000137841 chr15:40295045-40295045;C/G missense_variant False PLCB2@p.S103P 1 0.492063492 ENSG00000137841 chr15:40302534-40302534;A/G missense_variant False PLCB3@p.E372K 1 0.148648649 ENSG00000149782 chr11:64258574-64258574;G/A missense_variant False PLCB3@p.E398D 1 0.215277778 ENSG00000149782 chr11:64258654-64258654;G/C missense_variant False PLB1@p.Q22E 1 0.328767123 ENSG00000163803 chr2:28516816-28516816;C/G missense_variant False PLB1@p.M491I 1 0.063291139 ENSG00000163803 chr2:28578146-28578146;G/A missense_variant False PLB1@p.L188V 1 0.118644068 ENSG00000163803 chr2:28538325-28538325;C/G missense_variant False PLAGL2@p.F414L 1 0.4 ENSG00000126003 chr20:32196701-32196701;G/T missense_variant False PLAAT4@p.S110I 1 0.061728395 ENSG00000133321 chr11:63544831-63544831;G/T missense_variant False PLAAT5@p.A123V 1 0.109589041 ENSG00000168004 chr11:63488878-63488878;G/A missense_variant False PLAAT5@p.A253T 1 0.402439024 ENSG00000168004 chr11:63463586-63463586;C/T missense_variant False PLAAT5@p.D152Y 1 0.133891213 ENSG00000168004 chr11:63468387-63468387;C/A missense_variant False PLAAT5@p.E230V 1 0.338235294 ENSG00000168004 chr11:63466168-63466168;T/A missense_variant False PLAAT5@p.I223V 1 0.257142857 ENSG00000168004 chr11:63466190-63466190;T/C missense_variant False PLAAT5@p.S44L 1 0.222222222 ENSG00000168004 chr11:63490904-63490904;G/A missense_variant False PLAC1@p.Q72K 1 0.35042735 ENSG00000170965 chrX:134566469-134566469;G/T missense_variant False PLAC1@p.Y94Lfs*15 1 0.125 ENSG00000170965 chrX:134566396-134566402;GTGCTGT/- frameshift_variant False PLAC8L1@p.F118L 1 0.150684932 ENSG00000173261 chr5:146085502-146085502;A/G missense_variant False PLAC9@p.S33L 1 0.307692308 ENSG00000189129 chr10:80142115-80142115;C/T missense_variant False PLAG1@p.R138C 1 0.239130435 ENSG00000181690 chr8:56167334-56167334;G/A missense_variant False PLAGL1@p.A272T 1 0.383116883 ENSG00000118495 chr6:143942002-143942002;C/T missense_variant False PLAGL2@p.E393K 1 0.083333333 ENSG00000126003 chr20:32196766-32196766;C/T missense_variant False PLAGL2@p.G462A 1 0.110091743 ENSG00000126003 chr20:32196558-32196558;C/G missense_variant False PLB1@p.I434M 1 0.25 ENSG00000163803 chr2:28566817-28566817;C/G missense_variant False PLAGL2@p.R30W 1 0.098591549 ENSG00000126003 chr20:32202091-32202091;G/A missense_variant False PLAGL2@p.S50L 1 0.4125 ENSG00000126003 chr20:32202030-32202030;G/A missense_variant False PLAT@p.C203S 1 0.14 ENSG00000104368 chr8:42185104-42185104;C/G missense_variant False PLAT@p.E147K 1 0.166666667 ENSG00000104368 chr8:42187498-42187498;C/T missense_variant False PLAT@p.G337E 1 0.12 ENSG00000104368 chr8:42180565-42180565;C/T missense_variant False PLAT@p.G7A 1 0.311111111 ENSG00000104368 chr8:42193166-42193166;C/G missense_variant False PLAT@p.V192Lfs*4 1 0.347826087 ENSG00000104368 chr8:42185138-42185139;-/GTAG frameshift_variant False PLAT@p.W151C 1 0.125 ENSG00000104368 chr8:42187484-42187484;C/A missense_variant False PLAU@p.C209Wfs*19 1 0.484076433 ENSG00000122861 chr10:73913700-73913701;GT/- frameshift_variant False PLAU@p.K171N 1 0.397810219 ENSG00000122861 chr10:73913591-73913591;G/C missense_variant False PLAUR@p.C137Y 1 0.162162162 ENSG00000011422 chr19:43656541-43656541;C/T missense_variant False PLAUR@p.E156K 1 0.103614458 ENSG00000011422 chr19:43656485-43656485;C/T missense_variant False PLAUR@p.F233L 1 0.278350515 ENSG00000011422 chr19:43652280-43652280;G/C missense_variant False PLAUR@p.R303H 1 0.257142857 ENSG00000011422 chr19:43648990-43648990;C/T missense_variant False PKP2@p.A570T 1 0.351351351 ENSG00000057294 chr12:32824143-32824143;C/T missense_variant False PKNOX2@p.R322S 1 0.444444444 ENSG00000165495 chr11:125429041-125429041;G/T missense_variant False PKD1@p.E1537K 1 0.153846154 ENSG00000008710 chr16:2110558-2110558;C/T missense_variant False PKDREJ@p.G1122S 1 0.170040486 ENSG00000130943 chr22:46259959-46259959;C/T missense_variant False PKDREJ@p.R799P 1 0.146666667 ENSG00000130943 chr22:46260927-46260927;C/G missense_variant False PKDREJ@p.Q2079H 1 0.235294118 ENSG00000130943 chr22:46257086-46257086;C/G missense_variant False PKDREJ@p.Q1330H 1 0.379310345 ENSG00000130943 chr22:46259333-46259333;C/G missense_variant False PKDREJ@p.L356M 1 0.510752688 ENSG00000130943 chr22:46262257-46262257;G/T missense_variant False PKDREJ@p.L1534H 1 0.157088123 ENSG00000130943 chr22:46258722-46258722;A/T missense_variant False PKDREJ@p.G358Sfs*19 1 0.345132743 ENSG00000130943 chr22:46262206-46262251;GTCCCTGTAACGGGCTGTCCGCATCTGGGTCCGAGGACGTGGACCC/- frameshift_variant False PKDCC@p.V480F 1 0.575 ENSG00000162878 chr2:42057644-42057644;G/T missense_variant False PKHD1@p.S1562F 1 0.34 ENSG00000170927 chr6:52025125-52025125;G/A missense_variant False PKDCC@p.R282W 1 0.363636364 ENSG00000162878 chr2:42054117-42054117;C/T missense_variant False PKDCC@p.E380Q 1 0.163636364 ENSG00000162878 chr2:42055309-42055309;G/C missense_variant False PKDCC@p.E336D 1 0.384615385 ENSG00000162878 chr2:42054281-42054281;G/C missense_variant False PKD2L2@p.S578T 1 0.138888889 ENSG00000078795 chr5:137935857-137935857;T/A missense_variant False PKD2L2@p.E573D 1 0.14 ENSG00000078795 chr5:137935844-137935844;G/C missense_variant False PKD2L1@p.Y425D 1 0.096153846 ENSG00000107593 chr10:100296205-100296205;A/C missense_variant False PKDREJ@p.S1512F 1 0.301587302 ENSG00000130943 chr22:46258788-46258788;G/A missense_variant False PKDREJ@p.W1649R 1 0.328767123 ENSG00000130943 chr22:46258378-46258378;A/G missense_variant False PKHD1@p.D1942N 1 0.073298429 ENSG00000170927 chr6:51959954-51959954;C/T missense_variant False PKHD1@p.D1957G 1 0.082191781 ENSG00000170927 chr6:51959908-51959908;T/C missense_variant False PKHD1@p.D3321H 1 0.111111111 ENSG00000170927 chr6:51746758-51746758;C/G missense_variant False PKHD1@p.E1891K 1 0.405063291 ENSG00000170927 chr6:52010389-52010389;C/T missense_variant False PKHD1@p.E2746K 1 0.509090909 ENSG00000170927 chr6:51830927-51830927;C/T missense_variant False PKHD1@p.E2746V 1 0.526315789 ENSG00000170927 chr6:51830926-51830926;T/A missense_variant False PKHD1@p.E3605K 1 0.157894737 ENSG00000170927 chr6:51659313-51659313;C/T missense_variant False PKHD1@p.F3212S 1 0.15060241 ENSG00000170927 chr6:51747981-51747981;A/G missense_variant False PKHD1@p.F4060L 1 0.432098765 ENSG00000170927 chr6:51619126-51619126;G/C missense_variant False PKHD1@p.G1951S 1 0.369369369 ENSG00000170927 chr6:51959927-51959927;C/T missense_variant False PKHD1@p.H3124N 1 0.043333333 ENSG00000170927 chr6:51748246-51748246;G/T missense_variant False PKHD1@p.H3267N 1 0.369863014 ENSG00000170927 chr6:51747817-51747817;G/T missense_variant False PKHD1@p.I277M 1 0.468468468 ENSG00000170927 chr6:52066025-52066025;G/C missense_variant False PKHD1@p.L1096I 1 0.28125 ENSG00000170927 chr6:52033108-52033108;G/T missense_variant False PKHD1@p.L3000S 1 0.597402597 ENSG00000170927 chr6:51748617-51748617;A/G missense_variant False PKD2L1@p.S30F 1 0.323308271 ENSG00000107593 chr10:100330015-100330015;G/A missense_variant False PKD2L1@p.Q149E 1 0.547169811 ENSG00000107593 chr10:100299623-100299623;G/C missense_variant False PKD2L1@p.P275S 1 0.391891892 ENSG00000107593 chr10:100297515-100297515;G/A missense_variant False PKD1L1@p.Q1402E 1 0.136363636 ENSG00000158683 chr7:47858831-47858831;G/C missense_variant False PKD1@p.G2740E 1 0.722222222 ENSG00000008710 chr16:2103838-2103838;C/T missense_variant False PKD1@p.Q3751L 1 0.32 ENSG00000008710 chr16:2092497-2092497;T/A missense_variant False PKD1@p.R2985G 1 0.285714286 ENSG00000008710 chr16:2102629-2102629;T/C missense_variant False PKD1@p.S2788L 1 0.276923077 ENSG00000008710 chr16:2103694-2103694;G/A missense_variant False PKD1@p.S3220L 1 0.441860465 ENSG00000008710 chr16:2100219-2100219;G/A missense_variant False PKD1@p.S3810Y 1 0.459459459 ENSG00000008710 chr16:2091889-2091889;G/T missense_variant False PKD1@p.S4163C 1 0.255319149 ENSG00000008710 chr16:2090151-2090151;G/C missense_variant False PKD1L1@p.E1366Q 1 0.242424242 ENSG00000158683 chr7:47865269-47865269;C/G missense_variant False PKD1L1@p.E1702K 1 0.282442748 ENSG00000158683 chr7:47846928-47846928;C/T missense_variant False PKD1L1@p.E723K 1 0.586206897 ENSG00000158683 chr7:47898092-47898092;C/T missense_variant False PKD1L1@p.F326V 1 0.223529412 ENSG00000158683 chr7:47929288-47929288;A/C missense_variant False PKD1L1@p.N1673T 1 0.481481481 ENSG00000158683 chr7:47847014-47847014;T/G missense_variant False PKD1L1@p.P2813R 1 0.303030303 ENSG00000158683 chr7:47792715-47792715;G/C missense_variant False PKD1L1@p.Q1078E 1 0.156862745 ENSG00000158683 chr7:47884631-47884631;G/C missense_variant False PKD1L1@p.R2753G 1 0.133333333 ENSG00000158683 chr7:47796087-47796087;T/C missense_variant False PKD2L1@p.F364L 1 0.136363636 ENSG00000107593 chr10:100297073-100297073;G/C missense_variant False PKD1L1@p.V1643A 1 0.271317829 ENSG00000158683 chr7:47853159-47853159;A/G missense_variant False PKD1L1@p.Y1682S 1 0.642857143 ENSG00000158683 chr7:47846987-47846987;T/G missense_variant False PKD1L2@p.E262A 1 0.398058252 ENSG00000166473 chr16:81207611-81207611;T/G missense_variant False PKD1L2@p.E396Kfs*9 1 0.197802198 ENSG00000166473 chr16:81199007-81199019;GGGTGGTGGACTC/- frameshift_variant False PKD1L2@p.E833K 1 0.530612245 ENSG00000166473 chr16:81175691-81175691;C/T missense_variant False PKD1L2@p.H423Q 1 0.676470588 ENSG00000166473 chr16:81198936-81198936;G/T missense_variant False PKD1L2@p.T483Pfs*16 1 0.434108527 ENSG00000166473 chr16:81198759-81198759;C/- frameshift_variant False PKD2@p.D289N 1 0.54368932 ENSG00000118762 chr4:88038272-88038272;G/A missense_variant False PKD2@p.M778I 1 0.161290323 ENSG00000118762 chr4:88065855-88065855;G/A missense_variant False PKD2@p.R742Q 1 0.057228916 ENSG00000118762 chr4:88065480-88065480;G/A missense_variant False PKD2@p.R910S 1 0.108843537 ENSG00000118762 chr4:88075515-88075515;C/A missense_variant False PKD2L1@p.D113H 1 0.172413793 ENSG00000107593 chr10:100329223-100329223;C/G missense_variant False PKD2L1@p.D215H 1 0.310679612 ENSG00000107593 chr10:100298650-100298650;C/G missense_variant False PKD2L1@p.E370K 1 0.15625 ENSG00000107593 chr10:100297057-100297057;C/T missense_variant False PKHD1@p.R3615K 1 0.434210526 ENSG00000170927 chr6:51659282-51659282;C/T missense_variant False PKHD1@p.S1727L 1 0.239130435 ENSG00000170927 chr6:52024630-52024630;G/A missense_variant False PKNOX2@p.G208R 1 0.339622642 ENSG00000165495 chr11:125410229-125410229;G/C missense_variant False PKLR@p.D400H 1 0.174603175 ENSG00000143627 chr1:155293509-155293509;C/G missense_variant False PKM@p.L465M 1 0.214285714 ENSG00000067225 chr15:72200570-72200570;G/T missense_variant False PKM@p.D407H 1 0.333333333 ENSG00000067225 chr15:72202542-72202542;C/G missense_variant False PKM@p.D354N 1 0.555555556 ENSG00000067225 chr15:72206808-72206808;C/T missense_variant False PKLR@p.S2L 1 0.421052632 ENSG00000143627 chr1:155301391-155301391;G/A missense_variant False PKLR@p.L76P 1 0.387096774 ENSG00000143627 chr1:155300154-155300154;A/G missense_variant False PKLR@p.G256E 1 0.35 ENSG00000143627 chr1:155294680-155294680;C/T missense_variant False PKLR@p.D324N 1 0.22972973 ENSG00000143627 chr1:155294381-155294381;C/T missense_variant False PKHD1@p.S1783F 1 0.49382716 ENSG00000170927 chr6:52022833-52022833;G/A missense_variant False PKLR@p.A500D 1 0.094202899 ENSG00000143627 chr1:155291875-155291875;G/T missense_variant False PKLR@p.A291Pfs*30 1 0.346938776 ENSG00000143627 chr1:155294580-155294580;C/- frameshift_variant False PKIG@p.P59A 1 0.147058824 ENSG00000168734 chr20:44618308-44618308;C/G missense_variant False PKIB@p.R27Q 1 0.129032258 ENSG00000135549 chr6:122717874-122717874;G/A missense_variant False PKIA@p.I23V 1 0.22 ENSG00000171033 chr8:78598451-78598451;A/G missense_variant False PKHD1L1@p.V3822M 1 0.20754717 ENSG00000205038 chr8:109510845-109510845;G/A missense_variant False PKMYT1@p.E331K 1 0.37037037 ENSG00000127564 chr16:2974406-2974406;C/T missense_variant False PKN1@p.D569G 1 0.095238095 ENSG00000123143 chr19:14464128-14464128;A/G missense_variant False PKN2@p.E216Q 1 0.453125 ENSG00000065243 chr1:88771444-88771444;G/C missense_variant False PKN2@p.E221K 1 0.177419355 ENSG00000065243 chr1:88771459-88771459;G/A missense_variant False PKN2@p.E793Q 1 0.340909091 ENSG00000065243 chr1:88824344-88824344;G/C missense_variant False PKN2@p.E873K 1 0.372881356 ENSG00000065243 chr1:88832798-88832798;G/A missense_variant False PKN2@p.Q199H 1 0.426470588 ENSG00000065243 chr1:88770444-88770444;G/T missense_variant False PKN2@p.R441W 1 0.119047619 ENSG00000065243 chr1:88804430-88804430;C/T missense_variant False PKN2@p.R506T 1 0.3 ENSG00000065243 chr1:88805512-88805512;G/C missense_variant False PKN2@p.R961Q 1 0.405797101 ENSG00000065243 chr1:88833375-88833375;G/A missense_variant False PKN2@p.S591C 1 0.322580645 ENSG00000065243 chr1:88805986-88805986;C/G missense_variant False PKN3@p.R208K 1 0.432835821 ENSG00000160447 chr9:128706995-128706995;G/A missense_variant False PKNOX1@p.D256N 1 0.228571429 ENSG00000160199 chr21:43021348-43021348;G/A missense_variant False PKNOX1@p.D36H 1 0.146067416 ENSG00000160199 chr21:43007545-43007545;G/C missense_variant False PKNOX1@p.F142L 1 0.142857143 ENSG00000160199 chr21:43013142-43013142;C/G missense_variant False PKNOX2@p.A10T 1 0.333333333 ENSG00000165495 chr11:125351333-125351333;G/A missense_variant False PKNOX2@p.E284K 1 0.229508197 ENSG00000165495 chr11:125411779-125411779;G/A missense_variant False PKHD1L1@p.V2837L 1 0.128205128 ENSG00000205038 chr8:109466673-109466673;G/C missense_variant False PKHD1L1@p.S1614L 1 0.134020619 ENSG00000205038 chr8:109444710-109444710;C/T missense_variant False PKHD1L1@p.P3734L 1 0.184615385 ENSG00000205038 chr8:109507869-109507869;C/T missense_variant False PKHD1L1@p.E2629K 1 0.505617978 ENSG00000205038 chr8:109464717-109464717;G/A missense_variant False PKHD1@p.S2306F 1 0.258064516 ENSG00000170927 chr6:51903676-51903676;G/A missense_variant False PKHD1@p.S3443G 1 0.196969697 ENSG00000170927 chr6:51659799-51659799;T/C missense_variant False PKHD1@p.S3718L 1 0.288590604 ENSG00000170927 chr6:51658973-51658973;G/A missense_variant False PKHD1@p.S3867C 1 0.1 ENSG00000170927 chr6:51632630-51632630;G/C missense_variant False PKHD1@p.S922C 1 0.229166667 ENSG00000170927 chr6:52043681-52043681;G/C missense_variant False PKHD1@p.T1958S 1 0.081081081 ENSG00000170927 chr6:51959906-51959906;T/A missense_variant False PKHD1@p.V1903F 1 0.571428571 ENSG00000170927 chr6:52010353-52010353;C/A missense_variant False PKHD1L1@p.A2725S 1 0.19047619 ENSG00000205038 chr8:109465005-109465005;G/T missense_variant False PKHD1L1@p.C3010Y 1 0.551724138 ENSG00000205038 chr8:109477336-109477336;G/A missense_variant False PKHD1L1@p.D1113N 1 0.134146341 ENSG00000205038 chr8:109433213-109433213;G/A missense_variant False PKHD1L1@p.D1485N 1 0.278481013 ENSG00000205038 chr8:109443005-109443005;G/A missense_variant False PKHD1L1@p.D2593N 1 0.206349206 ENSG00000205038 chr8:109464609-109464609;G/A missense_variant False PKHD1L1@p.D3066N 1 0.263157895 ENSG00000205038 chr8:109480008-109480008;G/A missense_variant False PKHD1L1@p.D608H 1 0.4 ENSG00000205038 chr8:109408057-109408057;G/C missense_variant False PKHD1L1@p.E3098Q 1 0.666666667 ENSG00000205038 chr8:109480104-109480104;G/C missense_variant False PKHD1L1@p.P3317A 1 0.217391304 ENSG00000205038 chr8:109490020-109490020;C/G missense_variant False PKHD1L1@p.E3195K 1 0.205882353 ENSG00000205038 chr8:109485050-109485050;G/A missense_variant False PKHD1L1@p.E3273K 1 0.156448203 ENSG00000205038 chr8:109486758-109486758;G/A missense_variant False PKHD1L1@p.E4017Q 1 0.333333333 ENSG00000205038 chr8:109522203-109522203;G/C missense_variant False PKHD1L1@p.F3292V 1 0.103960396 ENSG00000205038 chr8:109486815-109486815;T/G missense_variant False PKHD1L1@p.G1452A 1 0.12962963 ENSG00000205038 chr8:109442157-109442157;G/C missense_variant False PKHD1L1@p.G1690C 1 0.040462428 ENSG00000205038 chr8:109444937-109444937;G/T missense_variant False PKHD1L1@p.G2769Vfs*27 1 0.26984127 ENSG00000205038 chr8:109465134-109465134;G/- frameshift_variant False PKHD1L1@p.G3333A 1 0.104166667 ENSG00000205038 chr8:109490985-109490985;G/C missense_variant False PKHD1L1@p.G45E 1 0.162162162 ENSG00000205038 chr8:109364607-109364607;G/A missense_variant False PKHD1L1@p.H2895Y 1 0.388059701 ENSG00000205038 chr8:109475195-109475195;C/T missense_variant False PKHD1L1@p.I177T 1 0.529411765 ENSG00000205038 chr8:109385591-109385591;T/C missense_variant False PKHD1L1@p.I2518V 1 0.137931034 ENSG00000205038 chr8:109464384-109464384;A/G missense_variant False PKHD1L1@p.N2000T 1 0.092592593 ENSG00000205038 chr8:109448365-109448365;A/C missense_variant False PKHD1L1@p.P1806S 1 0.085365854 ENSG00000205038 chr8:109445285-109445285;C/T missense_variant False PIGT@p.E292K 1 0.431372549 ENSG00000124155 chr20:45420534-45420534;G/A missense_variant False PIGS@p.W35L 1 0.450980392 ENSG00000087111 chr17:28571119-28571119;C/A missense_variant False PIGS@p.W35C 1 0.44 ENSG00000087111 chr17:28571118-28571118;C/A missense_variant False PHB2@p.G95C 1 0.293333333 ENSG00000215021 chr12:6969507-6969507;C/A missense_variant False PHC2@p.R699Q 1 0.173913043 ENSG00000134686 chr1:33330120-33330120;C/T missense_variant False PHC2@p.G765D 1 0.253968254 ENSG00000134686 chr1:33328998-33328998;C/T missense_variant False PHC2@p.E797Q 1 0.269230769 ENSG00000134686 chr1:33328903-33328903;C/G missense_variant False PHC1@p.S115R 1 0.470588235 ENSG00000111752 chr12:8921639-8921639;C/G missense_variant False PHB2@p.R209W 1 0.216730038 ENSG00000215021 chr12:6967762-6967762;G/A missense_variant False PHB2@p.I104V 1 0.333333333 ENSG00000215021 chr12:6968578-6968578;T/C missense_variant False PHB2@p.E229K 1 0.372197309 ENSG00000215021 chr12:6967702-6967702;C/T missense_variant False PHF12@p.Q288H 1 0.2 ENSG00000109118 chr17:28919248-28919248;C/G missense_variant False PHAX@p.Y215C 1 0.333333333 ENSG00000164902 chr5:126604117-126604117;A/G missense_variant False PHAX@p.Q85H 1 0.134831461 ENSG00000164902 chr5:126603728-126603728;G/T missense_variant False PHAX@p.I299M 1 0.24137931 ENSG00000164902 chr5:126617315-126617315;C/G missense_variant False PHACTR4@p.R75T 1 0.18 ENSG00000204138 chr1:28460245-28460245;G/C missense_variant False PHACTR4@p.R622P 1 0.242424242 ENSG00000204138 chr1:28490999-28490999;G/C missense_variant False PHACTR4@p.E678Q 1 0.256 ENSG00000204138 chr1:28493030-28493030;G/C missense_variant False PHC3@p.E786K 1 0.236842105 ENSG00000173889 chr3:170106908-170106908;C/T missense_variant False PHC3@p.P510T 1 0.170454545 ENSG00000173889 chr3:170128908-170128908;G/T missense_variant False PHETA1@p.I61M 1 0.174603175 ENSG00000198324 chr12:111363245-111363245;G/C missense_variant False PHETA1@p.V92M 1 0.454545455 ENSG00000198324 chr12:111363154-111363154;C/T missense_variant False PHEX@p.R126T 1 0.155555556 ENSG00000102174 chrX:22076415-22076415;G/C missense_variant False PHEX@p.R276T 1 0.372093023 ENSG00000102174 chrX:22094077-22094077;G/C missense_variant False PHEX@p.S172C 1 0.062068966 ENSG00000102174 chrX:22077554-22077554;C/G missense_variant False PHEX@p.S516C 1 0.293103448 ENSG00000102174 chrX:22178337-22178337;C/G missense_variant False PHEX@p.V9M 1 0.275 ENSG00000102174 chrX:22033030-22033030;G/A missense_variant False PHF10@p.S323F 1 0.516129032 ENSG00000130024 chr6:169710381-169710381;G/A missense_variant False PHF10@p.Y370C 1 0.240601504 ENSG00000130024 chr6:169710240-169710240;T/C missense_variant False PHF11@p.D51N 1 0.158730159 ENSG00000136147 chr13:49506691-49506691;G/A missense_variant False PHF11@p.D90H 1 0.184615385 ENSG00000136147 chr13:49513110-49513110;G/C missense_variant False PHF11@p.E283Q 1 0.196428571 ENSG00000136147 chr13:49528516-49528516;G/C missense_variant False PHF11@p.E299Q 1 0.941176471 ENSG00000136147 chr13:49528564-49528564;G/C missense_variant False PHF11@p.R91T 1 0.3125 ENSG00000136147 chr13:49513114-49513114;G/C missense_variant False PHF12@p.K112E 1 0.11827957 ENSG00000109118 chr17:28924290-28924290;T/C missense_variant False PHACTR4@p.E573D 1 0.253521127 ENSG00000204138 chr1:28480563-28480563;G/T missense_variant False PHACTR3@p.T160I 1 0.157894737 ENSG00000087495 chr20:59755302-59755302;C/T missense_variant False PHACTR3@p.E295K 1 0.818181818 ENSG00000087495 chr20:59773410-59773410;G/A missense_variant False PGR@p.Q916R 1 0.254237288 ENSG00000082175 chr11:101039171-101039171;T/C missense_variant False PGM5@p.N369K 1 0.098039216 ENSG00000154330 chr9:68465156-68465156;T/A missense_variant False PGM5@p.S383T 1 0.773584906 ENSG00000154330 chr9:68465197-68465197;G/C missense_variant False PGM5@p.T476M 1 0.2 ENSG00000154330 chr9:68483996-68483996;C/T missense_variant False PGM5@p.V355G 1 0.376 ENSG00000154330 chr9:68465113-68465113;T/G missense_variant False PGP@p.G259A 1 0.267605634 ENSG00000184207 chr16:2213918-2213918;C/G missense_variant False PGP@p.L286V 1 0.125 ENSG00000184207 chr16:2213838-2213838;G/C missense_variant False PGPEP1@p.E63D 1 0.05 ENSG00000130517 chr19:18355996-18355996;G/C missense_variant False PGPEP1@p.T131M 1 0.125 ENSG00000130517 chr19:18357570-18357570;C/T missense_variant False PGPEP1@p.V71L 1 0.48 ENSG00000130517 chr19:18357389-18357389;G/C missense_variant False PGPEP1@p.Y158D 1 0.228571429 ENSG00000130517 chr19:18363425-18363425;T/G missense_variant False PGR@p.D608N 1 0.2 ENSG00000082175 chr11:101091844-101091844;C/T missense_variant False PGR@p.E228K 1 0.423076923 ENSG00000082175 chr11:101128389-101128389;C/T missense_variant False PGR@p.P422Q 1 0.214285714 ENSG00000082175 chr11:101127806-101127806;G/T missense_variant False PGR@p.Q679E 1 0.138392857 ENSG00000082175 chr11:101062624-101062624;G/C missense_variant False PGR@p.R740Q 1 0.56 ENSG00000082175 chr11:101051562-101051562;C/T missense_variant False PHACTR3@p.A121V 1 0.245614035 ENSG00000087495 chr20:59755185-59755185;C/T missense_variant False PGR@p.S276L 1 0.291666667 ENSG00000082175 chr11:101128244-101128244;G/A missense_variant False PGRMC1@p.D141N 1 0.227272727 ENSG00000101856 chrX:119240401-119240401;G/A missense_variant False PGRMC1@p.E157K 1 0.795918367 ENSG00000101856 chrX:119240449-119240449;G/A missense_variant False PGRMC2@p.D129N 1 0.5 ENSG00000164040 chr4:128287406-128287406;C/T missense_variant False PGS1@p.T506R 1 0.11627907 ENSG00000087157 chr17:78414993-78414993;C/G missense_variant False PHACTR1@p.K265N 1 0.118644068 ENSG00000112137 chr6:13205945-13205945;G/C missense_variant False PHACTR1@p.P233L 1 0.166666667 ENSG00000112137 chr6:13205848-13205848;C/T missense_variant False PHACTR1@p.P254Qfs*59 1 0.15 ENSG00000112137 chr6:13205903-13205903;G/- frameshift_variant False PHACTR1@p.Q468H 1 0.068571429 ENSG00000112137 chr6:13272872-13272872;G/C missense_variant False PHACTR2@p.D271E 1 0.342342342 ENSG00000112419 chr6:143765412-143765412;C/G missense_variant False PHACTR2@p.E119K 1 0.459459459 ENSG00000112419 chr6:143753846-143753846;G/A missense_variant False PHACTR2@p.E377K 1 0.232142857 ENSG00000112419 chr6:143765728-143765728;G/A missense_variant False PHACTR2@p.I13V 1 0.466666667 ENSG00000112419 chr6:143712039-143712039;A/G missense_variant False PHACTR2@p.R562T 1 0.29787234 ENSG00000112419 chr6:143788783-143788783;G/C missense_variant False PHF12@p.L988R 1 0.162790698 ENSG00000109118 chr17:28906235-28906235;A/C missense_variant False PHF12@p.R105H 1 0.154761905 ENSG00000109118 chr17:28926998-28926998;C/T missense_variant False PGM5@p.D146N 1 0.144067797 ENSG00000154330 chr9:68384409-68384409;G/A missense_variant False PHF24@p.D30H 1 0.105263158 ENSG00000122733 chr9:34971386-34971386;G/C missense_variant False PHF24@p.I263V 1 0.521126761 ENSG00000122733 chr9:34976678-34976678;A/G missense_variant False PHF24@p.G64E 1 0.127906977 ENSG00000122733 chr9:34971489-34971489;G/A missense_variant False PHF24@p.E80K 1 0.221311475 ENSG00000122733 chr9:34971536-34971536;G/A missense_variant False PHF24@p.E57K 1 0.426356589 ENSG00000122733 chr9:34971467-34971467;G/A missense_variant False PHF24@p.E197K 1 0.523809524 ENSG00000122733 chr9:34976176-34976176;G/A missense_variant False PHF24@p.E172K 1 0.139534884 ENSG00000122733 chr9:34972481-34972481;G/A missense_variant False PHF23@p.P15S 1 0.371900826 ENSG00000040633 chr17:7237652-7237652;G/A missense_variant False PHF12@p.R105P 1 0.084210526 ENSG00000109118 chr17:28926998-28926998;C/G missense_variant False PHF21A@p.R314K 1 0.2 ENSG00000135365 chr11:45965367-45965367;C/T missense_variant False PHF21A@p.L6V 1 0.257142857 ENSG00000135365 chr11:46084204-46084204;G/C missense_variant False PHF21A@p.L328F 1 0.571428571 ENSG00000135365 chr11:45965326-45965326;G/A missense_variant False PHF21A@p.D648N 1 0.272727273 ENSG00000135365 chr11:45934069-45934069;C/T missense_variant False PHF20L1@p.R739H 1 0.144654088 ENSG00000129292 chr8:132839411-132839411;G/A missense_variant False PHF20L1@p.Q732H 1 0.298850575 ENSG00000129292 chr8:132839391-132839391;G/C missense_variant False PHF24@p.R209Q 1 0.31372549 ENSG00000122733 chr9:34976213-34976213;G/A missense_variant False PHF24@p.R260Q 1 0.417721519 ENSG00000122733 chr9:34976670-34976670;G/A missense_variant False PHF24@p.Y201H 1 0.474576271 ENSG00000122733 chr9:34976188-34976188;T/C missense_variant False PHF2@p.E590D 1 0.245283019 ENSG00000197724 chr9:93662978-93662978;A/C missense_variant False PHF2@p.G836C 1 0.533333333 ENSG00000197724 chr9:93673742-93673742;G/T missense_variant False PHF2@p.H260Y 1 0.206896552 ENSG00000197724 chr9:93653354-93653354;C/T missense_variant False PHF3@p.A1158V 1 0.30952381 ENSG00000118482 chr6:63706134-63706134;C/T missense_variant False PHF3@p.D1517H 1 0.064935065 ENSG00000118482 chr6:63712137-63712137;G/C missense_variant False PHF3@p.D33A 1 0.419753086 ENSG00000118482 chr6:63646649-63646649;A/C missense_variant False PHF3@p.E105K 1 0.41221374 ENSG00000118482 chr6:63680068-63680068;G/A missense_variant False PHF3@p.E1075Q 1 0.246376812 ENSG00000118482 chr6:63702631-63702631;G/C missense_variant False PHF3@p.E1086Q 1 0.272727273 ENSG00000118482 chr6:63703560-63703560;G/C missense_variant False PHF3@p.E337K 1 0.164383562 ENSG00000118482 chr6:63684731-63684731;G/A missense_variant False PHF3@p.E900Q 1 0.340659341 ENSG00000118482 chr6:63698240-63698240;G/C missense_variant False PHF3@p.H251N 1 0.397260274 ENSG00000118482 chr6:63684473-63684473;C/A missense_variant False PHF3@p.H9Y 1 0.301587302 ENSG00000118482 chr6:63646576-63646576;C/T missense_variant False PHF3@p.I383F 1 0.484536082 ENSG00000118482 chr6:63684869-63684869;A/T missense_variant False PHF20L1@p.I826Nfs*7 1 0.314285714 ENSG00000129292 chr8:132842596-132842597;-/A frameshift_variant False PHF20L1@p.F406L 1 0.155844156 ENSG00000129292 chr8:132816922-132816922;C/G missense_variant False PHF20L1@p.E853K 1 0.122222222 ENSG00000129292 chr8:132842684-132842684;G/A missense_variant False PHF1@p.S504F 1 0.246376812 ENSG00000112511 chr6:33415905-33415905;C/T missense_variant False PHF13@p.S177W 1 0.255319149 ENSG00000116273 chr1:6620191-6620191;C/G missense_variant False PHF14@p.L291P 1 0.157142857 ENSG00000106443 chr7:10983131-10983131;T/C missense_variant False PHF14@p.P823S 1 0.46969697 ENSG00000106443 chr7:11051766-11051766;C/T missense_variant False PHF14@p.R577H 1 0.085470085 ENSG00000106443 chr7:11036545-11036545;G/A missense_variant False PHF14@p.R688K 1 0.461538462 ENSG00000106443 chr7:11038842-11038842;G/A missense_variant False PHF19@p.I253M 1 0.13559322 ENSG00000119403 chr9:120866048-120866048;G/C missense_variant False PHF19@p.R342C 1 0.035 ENSG00000119403 chr9:120862694-120862694;G/A missense_variant False PHF1@p.G127A 1 0.14893617 ENSG00000112511 chr6:33413238-33413238;G/C missense_variant False PHF1@p.G528A 1 0.151315789 ENSG00000112511 chr6:33415977-33415977;G/C missense_variant False PHF1@p.P27T 1 0.192982456 ENSG00000112511 chr6:33412342-33412342;C/A missense_variant False PHF1@p.R30W 1 0.804878049 ENSG00000112511 chr6:33412351-33412351;C/T missense_variant False PHF1@p.R538Q 1 0.530120482 ENSG00000112511 chr6:33416007-33416007;G/A missense_variant False PHF1@p.R6Gfs*2 1 0.288461538 ENSG00000112511 chr6:33412273-33412273;C/- frameshift_variant False PHF1@p.S501L 1 0.434782609 ENSG00000112511 chr6:33415896-33415896;C/T missense_variant False PHF20@p.D23Y 1 0.136363636 ENSG00000025293 chr20:35801589-35801589;G/T missense_variant False PHF20L1@p.E687Q 1 0.105263158 ENSG00000129292 chr8:132836689-132836689;G/C missense_variant False PHF20@p.D631H 1 0.456140351 ENSG00000025293 chr20:35917549-35917549;G/C missense_variant False PHF20@p.D773H 1 0.56 ENSG00000025293 chr20:35938713-35938713;G/C missense_variant False PHF20@p.D99Y 1 0.493975904 ENSG00000025293 chr20:35847389-35847389;G/T missense_variant False PHF20@p.E873K 1 0.394495413 ENSG00000025293 chr20:35939013-35939013;G/A missense_variant False PHF20@p.H132N 1 0.114754098 ENSG00000025293 chr20:35858355-35858355;C/A missense_variant False PHF20@p.H337Y 1 0.117647059 ENSG00000025293 chr20:35871041-35871041;C/T missense_variant False PHF20@p.M473I 1 0.285714286 ENSG00000025293 chr20:35899506-35899506;G/A missense_variant False PHF20@p.P416S 1 0.310344828 ENSG00000025293 chr20:35871793-35871793;C/T missense_variant False PHF20@p.S380L 1 0.125 ENSG00000025293 chr20:35871686-35871686;C/T missense_variant False PHF20@p.S616F 1 0.333333333 ENSG00000025293 chr20:35917505-35917505;C/T missense_variant False PHF20@p.W623C 1 0.263157895 ENSG00000025293 chr20:35917527-35917527;G/C missense_variant False PHF20L1@p.D379H 1 0.120930233 ENSG00000129292 chr8:132814841-132814841;G/C missense_variant False PHF20L1@p.D689H 1 0.107843137 ENSG00000129292 chr8:132836695-132836695;G/C missense_variant False PHF20L1@p.E238K 1 0.142857143 ENSG00000129292 chr8:132804023-132804023;G/A missense_variant False PGM5@p.D456H 1 0.357142857 ENSG00000154330 chr9:68483935-68483935;G/C missense_variant False PGM5@p.A474S 1 0.142857143 ENSG00000154330 chr9:68483989-68483989;G/T missense_variant False PHF3@p.L1010P 1 0.243902439 ENSG00000118482 chr6:63700396-63700396;T/C missense_variant False PFKFB2@p.E502K 1 0.161290323 ENSG00000123836 chr1:207072357-207072357;G/A missense_variant False PFKM@p.F440L 1 0.472972973 ENSG00000152556 chr12:48140850-48140850;C/G missense_variant False PFKM@p.E646Q 1 0.365269461 ENSG00000152556 chr12:48144101-48144101;G/C missense_variant False PFKL@p.S306F 1 0.591836735 ENSG00000141959 chr21:44316505-44316505;C/T missense_variant False PFKFB3@p.R348W 1 0.571428571 ENSG00000170525 chr10:6221704-6221704;C/T missense_variant False PFKFB3@p.R234L 1 0.125874126 ENSG00000170525 chr10:6220735-6220735;G/T missense_variant False PFKFB3@p.G270D 1 0.142857143 ENSG00000170525 chr10:6220843-6220843;G/A missense_variant False PFKFB2@p.E319K 1 0.545454545 ENSG00000123836 chr1:207068277-207068277;G/A missense_variant False PGAM4@p.T66I 1 0.391025641 ENSG00000226784 chrX:77969442-77969442;G/A missense_variant False PFKFB1@p.T303A 1 0.333333333 ENSG00000158571 chrX:54949161-54949161;T/C missense_variant False PFKFB1@p.R353Q 1 0.158730159 ENSG00000158571 chrX:54945479-54945479;C/T missense_variant False PFKFB1@p.H470Y 1 0.163934426 ENSG00000158571 chrX:54933411-54933411;G/A missense_variant False PFKFB1@p.E459K 1 0.622222222 ENSG00000158571 chrX:54933444-54933444;C/T missense_variant False PFKFB1@p.E314K 1 0.231884058 ENSG00000158571 chrX:54949128-54949128;C/T missense_variant False PFDN6@p.F115L 1 0.25 ENSG00000204220 chr6:33290800-33290800;C/G missense_variant False PFKM@p.I267T 1 0.272727273 ENSG00000152556 chr12:48134995-48134995;T/C missense_variant False PFKM@p.I640V 1 0.262857143 ENSG00000152556 chr12:48144083-48144083;A/G missense_variant False PFKM@p.L612V 1 0.16091954 ENSG00000152556 chr12:48143768-48143768;C/G missense_variant False PFKP@p.E286K 1 0.107692308 ENSG00000067057 chr10:3107295-3107295;G/A missense_variant False PFN1@p.A96T 1 0.210084034 ENSG00000108518 chr17:4946667-4946667;C/T missense_variant False PFN1@p.E117Q 1 0.195121951 ENSG00000108518 chr17:4945974-4945974;C/G missense_variant False PFN1@p.K91N 1 0.450617284 ENSG00000108518 chr17:4946680-4946680;C/G missense_variant False PFN1@p.W4C 1 0.333333333 ENSG00000108518 chr17:4948383-4948383;C/G missense_variant False PFN2@p.S138C 1 0.15451895 ENSG00000070087 chr3:149966499-149966499;G/C missense_variant False PFN3@p.V116I 1 0.153846154 ENSG00000196570 chr5:177400231-177400231;C/T missense_variant False PGA3@p.D64H 1 0.342857143 ENSG00000229859 chr11:61204240-61204240;G/C missense_variant False PGA5@p.D296Y 1 0.162962963 ENSG00000256713 chr11:61249781-61249781;G/T missense_variant False PGAM1@p.Q149E 1 0.328125 ENSG00000171314 chr10:97430985-97430985;C/G missense_variant False PGAM2@p.E110Q 1 0.303030303 ENSG00000164708 chr7:44065202-44065202;C/G missense_variant False PGAM2@p.E13K 1 0.25 ENSG00000164708 chr7:44065493-44065493;C/T missense_variant False PGAM2@p.I45M 1 0.092105263 ENSG00000164708 chr7:44065395-44065395;G/C missense_variant False PGAM2@p.R180Q 1 0.297297297 ENSG00000164708 chr7:44064888-44064888;C/T missense_variant False PFDN6@p.E98Q 1 0.2 ENSG00000204220 chr6:33290747-33290747;G/C missense_variant False PFDN5@p.I5M 1 0.065359477 ENSG00000123349 chr12:53295582-53295582;T/G missense_variant False PFDN2@p.E85Q 1 0.265625 ENSG00000143256 chr1:161102083-161102083;C/G missense_variant False PEX6@p.D817H 1 0.147058824 ENSG00000124587 chr6:42965703-42965703;C/G missense_variant False PEX1@p.L822F 1 0.801980198 ENSG00000127980 chr7:92501626-92501626;G/A missense_variant False PEX1@p.R450T 1 0.275 ENSG00000127980 chr7:92513858-92513858;C/G missense_variant False PEX1@p.R923W 1 0.309352518 ENSG00000127980 chr7:92496729-92496729;G/A missense_variant False PEX1@p.T433I 1 0.295774648 ENSG00000127980 chr7:92513909-92513909;G/A missense_variant False PEX1@p.V1085L 1 0.083333333 ENSG00000127980 chr7:92491457-92491457;C/G missense_variant False PEX26@p.E95K 1 0.058441558 ENSG00000215193 chr22:18079926-18079926;G/A missense_variant False PEX2@p.I211Sfs*6 1 0.352380952 ENSG00000164751 chr8:76983548-76983548;T/- frameshift_variant False PEX3@p.E297Q 1 0.448979592 ENSG00000034693 chr6:143479146-143479146;G/C missense_variant False PEX3@p.S4F 1 0.163009404 ENSG00000034693 chr6:143451053-143451053;C/T missense_variant False PEX3@p.S88N 1 0.55 ENSG00000034693 chr6:143462973-143462973;G/A missense_variant False PEX5L@p.A416S 1 0.176470588 ENSG00000114757 chr3:179809577-179809577;C/A missense_variant False PEX5L@p.K90E 1 0.370786517 ENSG00000114757 chr3:179887715-179887715;T/C missense_variant False PEX5L@p.Q477H 1 0.06557377 ENSG00000114757 chr3:179808359-179808359;C/G missense_variant False PEX5L@p.V381A 1 0.179775281 ENSG00000114757 chr3:179811813-179811813;A/G missense_variant False PEX6@p.E246K 1 0.289473684 ENSG00000124587 chr6:42978415-42978415;C/T missense_variant False PFDN2@p.D65N 1 0.14516129 ENSG00000143256 chr1:161102143-161102143;C/T missense_variant False PEX6@p.G462E 1 0.232323232 ENSG00000124587 chr6:42968968-42968968;C/T missense_variant False PEX6@p.S184F 1 0.307692308 ENSG00000124587 chr6:42978600-42978600;G/A missense_variant False PEX7@p.E109Q 1 0.125 ENSG00000112357 chr6:136826455-136826455;G/C missense_variant False PEX7@p.I162M 1 0.079545455 ENSG00000112357 chr6:136846141-136846141;C/G missense_variant False PEX7@p.S130C 1 0.176470588 ENSG00000112357 chr6:136845664-136845664;C/G missense_variant False PF4V1@p.I58F 1 0.375 ENSG00000109272 chr4:73853854-73853854;A/T missense_variant False PF4V1@p.S3C 1 0.161764706 ENSG00000109272 chr4:73853370-73853370;C/G missense_variant False PFAS@p.D72N 1 0.3625 ENSG00000178921 chr17:8254237-8254237;G/A missense_variant False PFAS@p.E287K 1 0.944444444 ENSG00000178921 chr17:8256561-8256561;G/A missense_variant False PFAS@p.E39K 1 0.246153846 ENSG00000178921 chr17:8254052-8254052;G/A missense_variant False PFAS@p.F1016S 1 0.21875 ENSG00000178921 chr17:8267107-8267107;T/C missense_variant False PFAS@p.G464A 1 0.153846154 ENSG00000178921 chr17:8262974-8262974;G/C missense_variant False PFAS@p.S826L 1 0.153846154 ENSG00000178921 chr17:8265571-8265571;C/T missense_variant False PFAS@p.T98N 1 0.228571429 ENSG00000178921 chr17:8255041-8255041;C/A missense_variant False PGAM4@p.T212N 1 0.07960199 ENSG00000226784 chrX:77969004-77969004;G/T missense_variant False PGAM5@p.I204M 1 0.344827586 ENSG00000247077 chr12:132718013-132718013;C/G missense_variant False PGM3@p.D203N 1 0.357142857 ENSG00000013375 chr6:83181916-83181916;C/T missense_variant False PGGHG@p.E292K 1 0.212121212 ENSG00000142102 chr11:291081-291081;G/A missense_variant False PGK1@p.V177E 1 0.283783784 ENSG00000102144 chrX:78118059-78118059;T/A missense_variant False PGGT1B@p.G159E 1 0.88372093 ENSG00000164219 chr5:115237861-115237861;C/T missense_variant False PGGHG@p.Q212E 1 0.115384615 ENSG00000142102 chr11:290841-290841;C/G missense_variant False PGGHG@p.P690L 1 0.165644172 ENSG00000142102 chr11:294604-294604;C/T missense_variant False PGGHG@p.G703R 1 0.041353383 ENSG00000142102 chr11:294642-294642;G/A missense_variant False PGGHG@p.F701L 1 0.220858896 ENSG00000142102 chr11:294638-294638;C/A missense_variant False PGF@p.Y117D 1 0.255813953 ENSG00000119630 chr14:74948550-74948550;A/C missense_variant False PGAM5@p.K141E 1 0.23255814 ENSG00000247077 chr12:132717489-132717489;A/G missense_variant False PGF@p.S123C 1 0.4375 ENSG00000119630 chr14:74948531-74948531;G/C missense_variant False PGD@p.R369T 1 0.363636364 ENSG00000142657 chr1:10417506-10417506;G/C missense_variant False PGD@p.L293Efs*3 1 0.186440678 ENSG00000142657 chr1:10417016-10417017;TC/- frameshift_variant False PGD@p.E436Q 1 0.267973856 ENSG00000142657 chr1:10419513-10419513;G/C missense_variant False PGD@p.E191Q 1 0.238095238 ENSG00000142657 chr1:10411469-10411469;G/C missense_variant False PGD@p.A398P 1 0.126373626 ENSG00000142657 chr1:10418908-10418908;G/C missense_variant False PGLYRP1@p.G119V 1 0.117021277 ENSG00000008438 chr19:46019579-46019579;C/A missense_variant False PGLYRP1@p.G159E 1 0.125 ENSG00000008438 chr19:46019353-46019353;C/T missense_variant False PGLYRP2@p.D184Y 1 0.116959064 ENSG00000161031 chr19:15476120-15476120;C/A missense_variant False PGLYRP2@p.G443E 1 0.264705882 ENSG00000161031 chr19:15471905-15471905;C/T missense_variant False PGLYRP3@p.Q327Rfs*? 1 0.309090909 ENSG00000159527 chr1:153298003-153298003;G/- frameshift_variant False PGLYRP4@p.S57C 1 0.12 ENSG00000163218 chr1:153345352-153345352;G/C missense_variant False PGM1@p.E388K 1 0.305555556 ENSG00000079739 chr1:63648534-63648534;G/A missense_variant False PGM1@p.E431K 1 0.322580645 ENSG00000079739 chr1:63651679-63651679;G/A missense_variant False PGM1@p.L114M 1 0.490797546 ENSG00000079739 chr1:63629518-63629518;C/A missense_variant False PGM1@p.Q407H 1 0.06122449 ENSG00000079739 chr1:63648593-63648593;G/C missense_variant False PGM1@p.R23Q 1 0.227272727 ENSG00000079739 chr1:63593556-63593556;G/A missense_variant False PGM2@p.H394Y 1 0.252173913 ENSG00000169299 chr4:37847103-37847103;C/T missense_variant False PGM2@p.S214G 1 0.257425743 ENSG00000169299 chr4:37840180-37840180;A/G missense_variant False PGM2L1@p.E607Q 1 0.169230769 ENSG00000165434 chr11:74336702-74336702;C/G missense_variant False PGM2L1@p.G450W 1 0.444444444 ENSG00000165434 chr11:74342979-74342979;C/A missense_variant False PGM2L1@p.S487L 1 0.214285714 ENSG00000165434 chr11:74342633-74342633;G/A missense_variant False PGM2L1@p.W188L 1 0.3 ENSG00000165434 chr11:74351569-74351569;C/A missense_variant False PGC@p.Y48H 1 0.275 ENSG00000096088 chr6:41744726-41744726;A/G missense_variant False PGC@p.L281V 1 0.295652174 ENSG00000096088 chr6:41739873-41739873;G/C missense_variant False PGBD5@p.V442L 1 0.115942029 ENSG00000177614 chr1:230323469-230323469;C/G missense_variant False PGBD1@p.E616K 1 0.301675978 ENSG00000137338 chr6:28301700-28301700;G/A missense_variant False PGAP1@p.E44K 1 0.54519774 ENSG00000197121 chr2:196926487-196926487;C/T missense_variant False PGAP1@p.G24W 1 0.039285714 ENSG00000197121 chr2:196926547-196926547;C/A missense_variant False PGAP1@p.R110Efs*17 1 0.431034483 ENSG00000197121 chr2:196916571-196916571;T/- frameshift_variant False PGAP1@p.S798L 1 0.28 ENSG00000197121 chr2:196844020-196844020;G/A missense_variant False PGAP2@p.R88C 1 0.265957447 ENSG00000148985 chr11:3823979-3823979;C/T missense_variant False PGAP3@p.P276S 1 0.138888889 ENSG00000161395 chr17:39673124-39673124;G/A missense_variant False PGAP4@p.E234K 1 0.476190476 ENSG00000165152 chr9:101476393-101476393;C/T missense_variant False PGAP4@p.L158I 1 0.777777778 ENSG00000165152 chr9:101476621-101476621;G/T missense_variant False PGAP6@p.R387W 1 0.555555556 ENSG00000129925 chr16:376201-376201;G/A missense_variant False PGAP6@p.S687L 1 0.181818182 ENSG00000129925 chr16:372243-372243;G/A missense_variant False PGAP6@p.T492A 1 0.153846154 ENSG00000129925 chr16:374858-374858;T/C missense_variant False PGAP6@p.T533R 1 0.25 ENSG00000129925 chr16:374378-374378;G/C missense_variant False PGBD1@p.D546N 1 0.101123596 ENSG00000137338 chr6:28301490-28301490;G/A missense_variant False PGBD1@p.E148Q 1 0.215517241 ENSG00000137338 chr6:28285596-28285596;G/C missense_variant False PGBD1@p.E76K 1 0.304347826 ENSG00000137338 chr6:28284039-28284039;G/A missense_variant False PGBD5@p.G122E 1 0.272727273 ENSG00000177614 chr1:230357081-230357081;C/T missense_variant False PGBD1@p.F502L 1 0.289940828 ENSG00000137338 chr6:28301360-28301360;C/G missense_variant False PGBD1@p.G282E 1 0.103448276 ENSG00000137338 chr6:28297967-28297967;G/A missense_variant False PGBD1@p.K218N 1 0.151515152 ENSG00000137338 chr6:28296827-28296827;G/C missense_variant False PGBD1@p.Q445E 1 0.179245283 ENSG00000137338 chr6:28301187-28301187;C/G missense_variant False PGBD1@p.V751M 1 0.108695652 ENSG00000137338 chr6:28302105-28302105;G/A missense_variant False PGBD1@p.Y732F 1 0.131147541 ENSG00000137338 chr6:28302049-28302049;A/T missense_variant False PGBD2@p.A583S 1 0.181818182 ENSG00000185220 chr1:248918331-248918331;G/T missense_variant False PGBD2@p.D219H 1 0.173076923 ENSG00000185220 chr1:248917239-248917239;G/C missense_variant False PGBD2@p.H210R 1 0.104651163 ENSG00000185220 chr1:248917213-248917213;A/G missense_variant False PGBD4@p.D402H 1 0.111111111 ENSG00000182405 chr15:34103735-34103735;G/C missense_variant False PGBD4@p.D97N 1 0.514285714 ENSG00000182405 chr15:34102820-34102820;G/A missense_variant False PGBD4@p.M73I 1 0.173076923 ENSG00000182405 chr15:34102750-34102750;G/A missense_variant False PGBD4@p.P92H 1 0.310344828 ENSG00000182405 chr15:34102806-34102806;C/A missense_variant False PGBD5@p.C221R 1 0.263157895 ENSG00000177614 chr1:230350984-230350984;A/G missense_variant False PHF3@p.K170N 1 0.102222222 ENSG00000118482 chr6:63684232-63684232;A/T missense_variant False PHF3@p.P1465A 1 0.385542169 ENSG00000118482 chr6:63711981-63711981;C/G missense_variant False PIGS@p.Q135E 1 0.229508197 ENSG00000087111 chr17:28563496-28563496;G/C missense_variant False PIANP@p.R114Q 1 0.409090909 ENSG00000139200 chr12:6697469-6697469;C/T missense_variant False PIAS3@p.P95L 1 0.366336634 ENSG00000131788 chr1:145856747-145856747;G/A missense_variant False PIAS3@p.L119V 1 0.185 ENSG00000131788 chr1:145856676-145856676;G/C missense_variant False PIAS3@p.G480E 1 0.402985075 ENSG00000131788 chr1:145850780-145850780;C/T missense_variant False PIAS3@p.A602Gfs*42 1 0.137931034 ENSG00000131788 chr1:145849528-145849529;-/C frameshift_variant False PIAS2@p.D468H 1 0.333333333 ENSG00000078043 chr18:46828065-46828065;C/G missense_variant False PIAS1@p.L436F 1 0.229166667 ENSG00000033800 chr15:68176481-68176481;G/C missense_variant False PIANP@p.F242L 1 0.189655172 ENSG00000139200 chr12:6695531-6695531;G/T missense_variant False PIBF1@p.Y369C 1 0.894736842 ENSG00000083535 chr13:72835251-72835251;A/G missense_variant False PI4KB@p.T448A 1 0.608 ENSG00000143393 chr1:151306204-151306204;T/C missense_variant False PI4KB@p.S706L 1 0.282051282 ENSG00000143393 chr1:151294440-151294440;G/A missense_variant False PI4KB@p.S69F 1 0.095238095 ENSG00000143393 chr1:151316276-151316276;G/A missense_variant False PI4KB@p.S146L 1 0.081632653 ENSG00000143393 chr1:151316045-151316045;G/A missense_variant False PI4KB@p.R168C 1 0.56 ENSG00000143393 chr1:151315980-151315980;G/A missense_variant False PI4KB@p.L601R 1 0.295180723 ENSG00000143393 chr1:151299021-151299021;A/C missense_variant False PIAS3@p.Q536K 1 0.295652174 ENSG00000131788 chr1:145850246-145850246;G/T missense_variant False PIAS3@p.V494L 1 0.177777778 ENSG00000131788 chr1:145850555-145850555;C/G missense_variant False PIAS4@p.D312H 1 0.081967213 ENSG00000105229 chr19:4033126-4033126;G/C missense_variant False PIAS4@p.D394N 1 0.264150943 ENSG00000105229 chr19:4037411-4037411;G/A missense_variant False PIAS4@p.K237N 1 0.209302326 ENSG00000105229 chr19:4028758-4028758;G/C missense_variant False PIBF1@p.D265N 1 0.372093023 ENSG00000083535 chr13:72821969-72821969;G/A missense_variant False PIBF1@p.E21K 1 0.132231405 ENSG00000083535 chr13:72783530-72783530;G/A missense_variant False PIBF1@p.E228Ifs*17 1 0.13559322 ENSG00000083535 chr13:72821856-72821859;AGGA/- frameshift_variant False PIBF1@p.E406Q 1 0.308641975 ENSG00000083535 chr13:72835361-72835361;G/C missense_variant False PIBF1@p.E466Q 1 0.162162162 ENSG00000083535 chr13:72893857-72893857;G/C missense_variant False PIBF1@p.E510Q 1 0.142857143 ENSG00000083535 chr13:72908570-72908570;G/C missense_variant False PIBF1@p.E87K 1 0.25 ENSG00000083535 chr13:72792453-72792453;G/A missense_variant False PIBF1@p.K756N 1 0.2 ENSG00000083535 chr13:73015913-73015913;G/C missense_variant False PIBF1@p.L495Ifs*10 1 0.279411765 ENSG00000083535 chr13:72893937-72893938;-/A frameshift_variant False PIBF1@p.Q621H 1 0.084745763 ENSG00000083535 chr13:72965303-72965303;G/C missense_variant False PIBF1@p.R582T 1 0.176470588 ENSG00000083535 chr13:72931179-72931179;G/C missense_variant False PIBF1@p.R636T 1 0.087719298 ENSG00000083535 chr13:72965347-72965347;G/C missense_variant False PI4KB@p.F328L 1 0.224137931 ENSG00000143393 chr1:151307772-151307772;G/T missense_variant False PI4KB@p.E774Q 1 0.807017544 ENSG00000143393 chr1:151292983-151292983;C/G missense_variant False PI4KB@p.E494Q 1 0.207843137 ENSG00000143393 chr1:151303581-151303581;C/G missense_variant False PI16@p.S235del 1 0.526315789 ENSG00000164530 chr6:36963040-36963042;CTT/- inframe_deletion False PHYHD1@p.L71F 1 0.115384615 ENSG00000175287 chr9:128933802-128933802;G/C missense_variant False PHYHD1@p.P135S 1 0.4 ENSG00000175287 chr9:128936613-128936613;C/T missense_variant False PHYHIPL@p.E152Ffs*19 1 0.265306122 ENSG00000165443 chr10:59236633-59236644;GAAATTATAGAA/T frameshift_variant False PHYHIPL@p.E347K 1 0.26984127 ENSG00000165443 chr10:59245499-59245499;G/A missense_variant False PHYHIPL@p.G350S 1 0.300699301 ENSG00000165443 chr10:59245508-59245508;G/A missense_variant False PHYHIPL@p.H82Q 1 0.103448276 ENSG00000165443 chr10:59234443-59234443;C/G missense_variant False PHYHIPL@p.M116I 1 0.235294118 ENSG00000165443 chr10:59236527-59236527;G/C missense_variant False PHYHIPL@p.P51L 1 0.117647059 ENSG00000165443 chr10:59234349-59234349;C/T missense_variant False PHYKPL@p.R24T 1 0.255474453 ENSG00000175309 chr5:178231512-178231512;C/G missense_variant False PI15@p.C229F 1 0.428571429 ENSG00000137558 chr8:74849162-74849162;G/T missense_variant False PI15@p.D39N 1 0.512605042 ENSG00000137558 chr8:74825364-74825364;G/A missense_variant False PI15@p.G167S 1 0.172932331 ENSG00000137558 chr8:74845234-74845234;G/A missense_variant False PI16@p.D205N 1 0.298850575 ENSG00000164530 chr6:36962955-36962955;G/A missense_variant False PI16@p.L35F 1 0.14893617 ENSG00000164530 chr6:36954865-36954865;G/C missense_variant False PI16@p.T214S 1 0.583333333 ENSG00000164530 chr6:36962982-36962982;A/T missense_variant False PI4KA@p.S553L 1 0.229508197 ENSG00000241973 chr22:20802039-20802039;G/A missense_variant False PI3@p.L86F 1 0.209302326 ENSG00000124102 chr20:45176039-45176039;G/C missense_variant False PI4K2A@p.I121M 1 0.227272727 ENSG00000155252 chr10:97641105-97641105;C/G missense_variant False PI4K2A@p.Q419H 1 0.607843137 ENSG00000155252 chr10:97667099-97667099;G/C missense_variant False PI4K2B@p.I300V 1 0.295081967 ENSG00000038210 chr4:25259178-25259178;A/G missense_variant False PI4K2B@p.P154R 1 0.329268293 ENSG00000038210 chr4:25255102-25255102;C/G missense_variant False PI4KA@p.D1698H 1 0.212765957 ENSG00000241973 chr22:20721322-20721322;C/G missense_variant False PI4KA@p.E115Q 1 0.326086957 ENSG00000241973 chr22:20834586-20834586;C/G missense_variant False PI4KA@p.E222Q 1 0.123076923 ENSG00000241973 chr22:20819766-20819766;C/G missense_variant False PI4KA@p.G1093V 1 0.276923077 ENSG00000241973 chr22:20747668-20747668;C/A missense_variant False PI4KA@p.L486V 1 0.157894737 ENSG00000241973 chr22:20804305-20804305;G/C missense_variant False PI4KA@p.L611F 1 0.481481481 ENSG00000241973 chr22:20799264-20799264;C/G missense_variant False PI4KA@p.M2002I 1 0.111111111 ENSG00000241973 chr22:20710776-20710776;C/T missense_variant False PI4KA@p.R1375C 1 0.37 ENSG00000241973 chr22:20733773-20733773;G/A missense_variant False PI4KA@p.S394C 1 0.139534884 ENSG00000241973 chr22:20805153-20805153;G/C missense_variant False PIBF1@p.V654I 1 0.12244898 ENSG00000083535 chr13:72965400-72965400;G/A missense_variant False PICALM@p.D538N 1 0.266666667 ENSG00000073921 chr11:85981908-85981908;C/T missense_variant False PHYHD1@p.A210V 1 0.421052632 ENSG00000175287 chr9:128940641-128940641;C/T missense_variant False PIGM@p.R225G 1 0.215116279 ENSG00000143315 chr1:160031067-160031067;G/C missense_variant False PIGO@p.R173H 1 0.203703704 ENSG00000165282 chr9:35094353-35094353;C/T missense_variant False PIGO@p.R173C 1 0.417910448 ENSG00000165282 chr9:35094354-35094354;G/A missense_variant False PIGO@p.Q386E 1 0.30952381 ENSG00000165282 chr9:35092731-35092731;G/C missense_variant False PIGO@p.F561L 1 0.418604651 ENSG00000165282 chr9:35092204-35092204;G/C missense_variant False PIGO@p.E988Q 1 0.170731707 ENSG00000165282 chr9:35090173-35090173;C/G missense_variant False PIGN@p.S94Y 1 0.178571429 ENSG00000197563 chr18:62157749-62157749;G/T missense_variant False PIGL@p.S104C 1 0.892156863 ENSG00000108474 chr17:16234046-16234046;C/G missense_variant False PICALM@p.E279Q 1 0.163636364 ENSG00000073921 chr11:86003424-86003424;C/G missense_variant False PIGL@p.L7M 1 0.14516129 ENSG00000108474 chr17:16217245-16217245;C/A missense_variant False PIGK@p.S67C 1 0.26446281 ENSG00000142892 chr1:77206679-77206679;G/C missense_variant False PIGK@p.E341Nfs*3 1 0.158878505 ENSG00000142892 chr1:77122325-77122325;C/- frameshift_variant False PIGK@p.D231H 1 0.164705882 ENSG00000142892 chr1:77161605-77161605;C/G missense_variant False PIGK@p.A184V 1 0.278688525 ENSG00000142892 chr1:77163879-77163879;G/A missense_variant False PIGG@p.R942H 1 0.613636364 ENSG00000174227 chr4:539242-539242;G/A missense_variant False PIGO@p.R802Q 1 0.4 ENSG00000165282 chr9:35091482-35091482;C/T missense_variant False PIGO@p.R814K 1 0.230769231 ENSG00000165282 chr9:35091446-35091446;C/T missense_variant False PIGO@p.T385P 1 0.426829268 ENSG00000165282 chr9:35092734-35092734;T/G missense_variant False PIGQ@p.P711S 1 0.447368421 ENSG00000007541 chr16:583482-583482;C/T missense_variant False PIGQ@p.S224L 1 0.714285714 ENSG00000007541 chr16:574745-574745;C/T missense_variant False PIGQ@p.S694C 1 0.151515152 ENSG00000007541 chr16:583432-583432;C/G missense_variant False PIGR@p.D248H 1 0.144578313 ENSG00000162896 chr1:206937398-206937398;C/G missense_variant False PIGR@p.E377G 1 0.8 ENSG00000162896 chr1:206935734-206935734;T/C missense_variant False PIGR@p.E706D 1 0.280701754 ENSG00000162896 chr1:206931693-206931693;C/G missense_variant False PIGR@p.G145D 1 0.380952381 ENSG00000162896 chr1:206937706-206937706;C/T missense_variant False PIGR@p.V266M 1 0.390804598 ENSG00000162896 chr1:206937344-206937344;C/T missense_variant False PIGS@p.E115K 1 0.24122807 ENSG00000087111 chr17:28563851-28563851;C/T missense_variant False PIGS@p.E177K 1 0.25 ENSG00000087111 chr17:28561569-28561569;C/T missense_variant False PIGS@p.E210K 1 0.2 ENSG00000087111 chr17:28561470-28561470;C/T missense_variant False PIGS@p.E216Q 1 0.142857143 ENSG00000087111 chr17:28561452-28561452;C/G missense_variant False PIGS@p.G163E 1 0.263157895 ENSG00000087111 chr17:28561610-28561610;C/T missense_variant False PIGS@p.L154F 1 0.067226891 ENSG00000087111 chr17:28563439-28563439;G/A missense_variant False PIGG@p.R118Q 1 0.568181818 ENSG00000174227 chr4:500594-500594;G/A missense_variant False PIGG@p.M435I 1 0.272727273 ENSG00000174227 chr4:521246-521246;G/A missense_variant False PIGG@p.L361Q 1 0.43 ENSG00000174227 chr4:516153-516153;T/A missense_variant False PIEZO2@p.L2332V 1 0.123966942 ENSG00000154864 chr18:10691241-10691241;G/C missense_variant False PICALM@p.H351Y 1 0.252747253 ENSG00000073921 chr11:86000746-86000746;G/A missense_variant False PICALM@p.L514F 1 0.245901639 ENSG00000073921 chr11:85981980-85981980;G/A missense_variant False PICALM@p.R461Kfs*6 1 0.25 ENSG00000073921 chr11:85990276-85990277;-/T frameshift_variant False PICK1@p.D135N 1 0.153846154 ENSG00000100151 chr22:38069086-38069086;G/A missense_variant False PIDD1@p.A152V 1 0.224137931 ENSG00000177595 chr11:803428-803428;G/A missense_variant False PIDD1@p.E11Q 1 0.269230769 ENSG00000177595 chr11:804358-804358;C/G missense_variant False PIDD1@p.E431Q 1 0.307692308 ENSG00000177595 chr11:801976-801976;C/G missense_variant False PIDD1@p.E655D 1 0.9 ENSG00000177595 chr11:800619-800619;C/A missense_variant False PIDD1@p.E764K 1 0.47826087 ENSG00000177595 chr11:799999-799999;C/T missense_variant False PIDD1@p.E841K 1 0.227272727 ENSG00000177595 chr11:799519-799519;C/T missense_variant False PIDD1@p.Q522K 1 0.333333333 ENSG00000177595 chr11:801284-801284;G/T missense_variant False PIEZO2@p.E2151K 1 0.5 ENSG00000154864 chr18:10697785-10697785;C/T missense_variant False PIEZO2@p.E2226K 1 0.12244898 ENSG00000154864 chr18:10696249-10696249;C/T missense_variant False PIEZO2@p.E2719K 1 0.294736842 ENSG00000154864 chr18:10671631-10671631;C/T missense_variant False PIEZO2@p.Q2515H 1 0.41025641 ENSG00000154864 chr18:10680267-10680267;C/G missense_variant False PIGG@p.E164K 1 0.109589041 ENSG00000174227 chr4:505847-505847;G/A missense_variant False PIEZO2@p.W2631C 1 0.082352941 ENSG00000154864 chr18:10672803-10672803;C/A missense_variant False PIF1@p.V218I 1 0.285714286 ENSG00000140451 chr15:64822517-64822517;C/T missense_variant False PIGA@p.I260V 1 0.880597015 ENSG00000165195 chrX:15325984-15325984;T/C missense_variant False PIGA@p.V319L 1 0.125 ENSG00000165195 chrX:15325046-15325046;C/A missense_variant False PIGB@p.A334V 1 0.5 ENSG00000069943 chr15:55340766-55340766;C/T missense_variant False PIGB@p.K466E 1 0.714285714 ENSG00000069943 chr15:55354856-55354856;A/G missense_variant False PIGB@p.M196I 1 0.18627451 ENSG00000069943 chr15:55329789-55329789;G/A missense_variant False PIGB@p.S81T 1 0.128205128 ENSG00000069943 chr15:55320353-55320353;G/C missense_variant False PIGC@p.E285K 1 0.307692308 ENSG00000135845 chr1:172441770-172441770;C/T missense_variant False PIGC@p.I162M 1 0.379310345 ENSG00000135845 chr1:172442137-172442137;G/C missense_variant False PIGC@p.Q4E 1 0.583333333 ENSG00000135845 chr1:172442613-172442613;G/C missense_variant False PIGC@p.S174C 1 0.542857143 ENSG00000135845 chr1:172442102-172442102;G/C missense_variant False PIGF@p.E38Q 1 0.143835616 ENSG00000151665 chr2:46615053-46615053;C/G missense_variant False PIGG@p.D187H 1 0.138888889 ENSG00000174227 chr4:505916-505916;G/C missense_variant False PHYHD1@p.E183Q 1 0.120689655 ENSG00000175287 chr9:128940458-128940458;G/C missense_variant False PHYH@p.L330P 1 0.102564103 ENSG00000107537 chr10:13278329-13278329;A/G missense_variant False PHF3@p.R131C 1 0.157894737 ENSG00000118482 chr6:63680146-63680146;C/T missense_variant False PHKA2@p.P678S 1 0.825 ENSG00000044446 chrX:18918786-18918786;G/A missense_variant False PHKB@p.L312V 1 0.452380952 ENSG00000102893 chr16:47588968-47588968;C/G missense_variant False PHKB@p.L1069F 1 0.218487395 ENSG00000102893 chr16:47699291-47699291;G/C missense_variant False PHKB@p.G551E 1 0.377358491 ENSG00000102893 chr16:47648576-47648576;G/A missense_variant False PHKB@p.D597N 1 0.133333333 ENSG00000102893 chr16:47649196-47649196;G/A missense_variant False PHKB@p.D308V 1 0.35 ENSG00000102893 chr16:47588957-47588957;A/T missense_variant False PHKA2@p.R1111Q 1 0.26 ENSG00000044446 chrX:18895142-18895142;C/T missense_variant False PHKA2@p.L260I 1 0.896551724 ENSG00000044446 chrX:18941615-18941615;G/T missense_variant False PHLDB1@p.G634R 1 0.149606299 ENSG00000019144 chr11:118631279-118631279;G/A missense_variant False PHKA2@p.E938Q 1 0.154761905 ENSG00000044446 chrX:18905854-18905854;C/G missense_variant False PHKA2@p.E1018K 1 0.225806452 ENSG00000044446 chrX:18900675-18900675;C/T missense_variant False PHKA2@p.E1006K 1 0.054794521 ENSG00000044446 chrX:18901496-18901496;C/T missense_variant False PHKA2@p.D1191H 1 0.268115942 ENSG00000044446 chrX:18893622-18893622;C/G missense_variant False PHKA1@p.S701A 1 0.12 ENSG00000067177 chrX:72620761-72620761;A/C missense_variant False PHKA1@p.L217V 1 0.2 ENSG00000067177 chrX:72667443-72667443;G/C missense_variant False PHKB@p.R1012T 1 0.253333333 ENSG00000102893 chr16:47698479-47698479;G/C missense_variant False PHKB@p.R630Q 1 0.606557377 ENSG00000102893 chr16:47650839-47650839;G/A missense_variant False PHKB@p.S823F 1 0.177419355 ENSG00000102893 chr16:47669255-47669255;C/T missense_variant False PHKG1@p.A309T 1 0.461538462 ENSG00000164776 chr7:56081293-56081293;C/T missense_variant False PHKG1@p.E202K 1 0.173913043 ENSG00000164776 chr7:56082197-56082197;C/T missense_variant False PHKG2@p.E114K 1 0.271186441 ENSG00000156873 chr16:30753245-30753245;G/A missense_variant False PHKG2@p.E197Q 1 0.239263804 ENSG00000156873 chr16:30756214-30756214;G/C missense_variant False PHKG2@p.S100C 1 0.325459318 ENSG00000156873 chr16:30751576-30751576;C/G missense_variant False PHLDA1@p.E144Q 1 0.375 ENSG00000139289 chr12:76031312-76031312;C/G missense_variant False PHLDA1@p.R286C 1 0.5 ENSG00000139289 chr12:76030886-76030886;G/A missense_variant False PHLDA1@p.Y251Tfs*5 1 0.245283019 ENSG00000139289 chr12:76030991-76030991;A/- frameshift_variant False PHLDA3@p.A96G 1 0.389312977 ENSG00000174307 chr1:201468500-201468500;G/C missense_variant False PHLDA3@p.C63_E65del 1 0.172413793 ENSG00000174307 chr1:201468592-201468600;CTCCACGCA/- inframe_deletion False PHLDA3@p.E52K 1 0.336956522 ENSG00000174307 chr1:201468633-201468633;C/T missense_variant False PHLDB1@p.D1281N 1 0.574712644 ENSG00000019144 chr11:118650514-118650514;G/A missense_variant False PHLDB1@p.E1295K 1 0.052631579 ENSG00000019144 chr11:118655613-118655613;G/A missense_variant False PHLDB1@p.E615Q 1 0.176470588 ENSG00000019144 chr11:118631222-118631222;G/C missense_variant False PHKA1@p.G58D 1 0.242424242 ENSG00000067177 chrX:72712843-72712843;C/T missense_variant False PHKA1@p.F1107L 1 0.941176471 ENSG00000067177 chrX:72582575-72582575;G/T missense_variant False PHKA1@p.E624K 1 0.976190476 ENSG00000067177 chrX:72623199-72623199;C/T missense_variant False PHF7@p.S28Ffs*39 1 0.102040816 ENSG00000010318 chr3:52414037-52414037;C/TT frameshift_variant False PHF3@p.S1611L 1 0.205128205 ENSG00000118482 chr6:63712420-63712420;C/T missense_variant False PHF3@p.S1618C 1 0.232142857 ENSG00000118482 chr6:63712441-63712441;C/G missense_variant False PHF3@p.S162C 1 0.343195266 ENSG00000118482 chr6:63684207-63684207;C/G missense_variant False PHF3@p.S485Vfs*2 1 0.15 ENSG00000118482 chr6:63685171-63685171;A/- frameshift_variant False PHF3@p.S563Y 1 0.409090909 ENSG00000118482 chr6:63685410-63685410;C/A missense_variant False PHF3@p.S595C 1 0.220779221 ENSG00000118482 chr6:63685506-63685506;C/G missense_variant False PHF5A@p.L8F 1 0.090909091 ENSG00000100410 chr22:41468630-41468630;C/G missense_variant False PHF6@p.A41G 1 0.384615385 ENSG00000156531 chrX:134377739-134377739;C/G missense_variant True PHF6@p.D264H 1 0.387755102 ENSG00000156531 chrX:134415076-134415076;G/C missense_variant True PHF6@p.E334Q 1 0.245901639 ENSG00000156531 chrX:134425232-134425232;G/C missense_variant True PHF6@p.R335K 1 0.4 ENSG00000156531 chrX:134425236-134425236;G/A missense_variant True PHF6@p.S83F 1 0.391304348 ENSG00000156531 chrX:134393508-134393508;C/T missense_variant True PHF7@p.E337K 1 0.188679245 ENSG00000010318 chr3:52423180-52423180;G/A missense_variant False PHF7@p.R210Q 1 0.456140351 ENSG00000010318 chr3:52421703-52421703;G/A missense_variant False PHF8@p.D729G 1 0.898550725 ENSG00000172943 chrX:53985867-53985867;T/C missense_variant False PHKA1@p.E322K 1 0.233009709 ENSG00000067177 chrX:72656197-72656197;C/T missense_variant False PHF8@p.L314V 1 0.189873418 ENSG00000172943 chrX:54011236-54011236;G/C missense_variant False PHF8@p.M61K 1 0.769230769 ENSG00000172943 chrX:54042655-54042655;A/T missense_variant False PHF8@p.R102C 1 0.716216216 ENSG00000172943 chrX:54022356-54022356;G/A missense_variant False PHF8@p.R867Q 1 0.382352941 ENSG00000172943 chrX:53962891-53962891;C/T missense_variant False PHGDH@p.T89A 1 0.423423423 ENSG00000092621 chr1:119721296-119721296;A/G missense_variant False PHIP@p.D467H 1 0.315789474 ENSG00000146247 chr6:79015207-79015207;C/G missense_variant False PHIP@p.H343Y 1 0.3125 ENSG00000146247 chr6:79017551-79017551;G/A missense_variant False PHIP@p.H535Y 1 0.151515152 ENSG00000146247 chr6:79003780-79003780;G/A missense_variant False PHIP@p.I1494T 1 0.375 ENSG00000146247 chr6:78946150-78946150;A/G missense_variant False PHIP@p.K1745M 1 0.046357616 ENSG00000146247 chr6:78940925-78940925;T/A missense_variant False PHIP@p.M1766I 1 0.129564193 ENSG00000146247 chr6:78940861-78940861;C/G missense_variant False PHIP@p.P607S 1 0.16 ENSG00000146247 chr6:79001959-79001959;G/A missense_variant False PHIP@p.S1567T 1 0.298245614 ENSG00000146247 chr6:78945428-78945428;C/G missense_variant False PHKA1@p.A1181T 1 0.15 ENSG00000067177 chrX:72581133-72581133;C/T missense_variant False PHLDB1@p.E801K 1 0.298013245 ENSG00000019144 chr11:118635414-118635414;G/A missense_variant False PHLDB1@p.K1147N 1 0.297297297 ENSG00000019144 chr11:118645759-118645759;G/C missense_variant False PHTF2@p.S387L 1 0.166666667 ENSG00000006576 chr7:77929149-77929149;C/T missense_variant False PHRF1@p.C1123Y 1 0.105263158 ENSG00000070047 chr11:608824-608824;G/A missense_variant False PHRF1@p.R378T 1 0.75 ENSG00000070047 chr11:601682-601682;G/C missense_variant False PHRF1@p.R1119W 1 0.375 ENSG00000070047 chr11:608811-608811;C/T missense_variant False PHRF1@p.G609R 1 0.219047619 ENSG00000070047 chr11:607281-607281;G/A missense_variant False PHRF1@p.E280K 1 0.217391304 ENSG00000070047 chr11:597514-597514;G/A missense_variant False PHRF1@p.E195K 1 0.443243243 ENSG00000070047 chr11:592637-592637;G/A missense_variant False PHRF1@p.C154S 1 0.444444444 ENSG00000070047 chr11:591423-591423;T/A missense_variant False PHRF1@p.A317V 1 0.259259259 ENSG00000070047 chr11:598428-598428;C/T missense_variant False PHLDB1@p.M1120V 1 0.137931034 ENSG00000019144 chr11:118645592-118645592;A/G missense_variant False PHOX2B@p.P206H 1 0.545454545 ENSG00000109132 chr4:41746135-41746135;G/T missense_variant False PHOX2B@p.A210V 1 0.304347826 ENSG00000109132 chr4:41746123-41746123;G/A missense_variant False PHOSPHO2@p.T12P 1 0.125 ENSG00000144362 chr2:169701005-169701005;A/C missense_variant False PHOSPHO2@p.P125S 1 0.155555556 ENSG00000144362 chr2:169701344-169701344;C/T missense_variant False PHOSPHO2@p.E64K 1 0.113821138 ENSG00000144362 chr2:169701161-169701161;G/A missense_variant False PHOSPHO2@p.A126V 1 0.134615385 ENSG00000144362 chr2:169701348-169701348;C/T missense_variant False PHRF1@p.R614Q 1 0.238738739 ENSG00000070047 chr11:607297-607297;G/A missense_variant False PHRF1@p.R992L 1 0.4 ENSG00000070047 chr11:608431-608431;G/T missense_variant False PHRF1@p.S1373F 1 0.857142857 ENSG00000070047 chr11:609574-609574;C/T missense_variant False PHRF1@p.S432F 1 0.203539823 ENSG00000070047 chr11:605261-605261;C/T missense_variant False PHRF1@p.V1624M 1 0.1 ENSG00000070047 chr11:611697-611697;G/A missense_variant False PHTF1@p.I526N 1 0.416666667 ENSG00000116793 chr1:113705984-113705984;A/T missense_variant False PHTF1@p.I590S 1 0.297297297 ENSG00000116793 chr1:113704700-113704700;A/C missense_variant False PHTF1@p.L600I 1 0.156862745 ENSG00000116793 chr1:113704671-113704671;G/T missense_variant False PHTF1@p.L701V 1 0.181818182 ENSG00000116793 chr1:113699745-113699745;G/C missense_variant False PHTF1@p.M138L 1 0.20754717 ENSG00000116793 chr1:113726494-113726494;T/G missense_variant False PHTF1@p.S96C 1 0.254901961 ENSG00000116793 chr1:113738154-113738154;G/C missense_variant False PHTF1@p.W383del 1 0.117647059 ENSG00000116793 chr1:113710374-113710376;CCA/- inframe_deletion False PHTF2@p.D281H 1 0.222222222 ENSG00000006576 chr7:77920343-77920343;G/C missense_variant False PHTF2@p.D92H 1 0.084745763 ENSG00000006576 chr7:77900768-77900768;G/C missense_variant False PHTF2@p.F45L 1 0.19047619 ENSG00000006576 chr7:77854822-77854822;C/G missense_variant False PHTF2@p.G318A 1 0.603174603 ENSG00000006576 chr7:77920455-77920455;G/C missense_variant False PHTF2@p.S240Efs*68 1 0.38028169 ENSG00000006576 chr7:77910349-77910373;CCTCTCACAGCGTTGGCACTGTCTT/- frameshift_variant False PHOSPHO1@p.R134C 1 0.3 ENSG00000173868 chr17:49224650-49224650;G/A missense_variant False PHLPP2@p.T658I 1 0.396226415 ENSG00000040199 chr16:71663911-71663911;G/A missense_variant False PHLPP2@p.R7I 1 0.338235294 ENSG00000040199 chr16:71714776-71714776;C/A missense_variant False PHLDB2@p.S73F 1 0.31130064 ENSG00000144824 chr3:111884295-111884295;C/T missense_variant False PHLDB1@p.Q722E 1 0.291666667 ENSG00000019144 chr11:118631976-118631976;C/G missense_variant False PHLDB2@p.D424N 1 0.074626866 ENSG00000144824 chr3:111885347-111885347;G/A missense_variant False PHLDB2@p.D475N 1 0.112359551 ENSG00000144824 chr3:111913406-111913406;G/A missense_variant False PHLDB2@p.D858N 1 0.288135593 ENSG00000144824 chr3:111949016-111949016;G/A missense_variant False PHLDB2@p.E1039D 1 0.54368932 ENSG00000144824 chr3:111966652-111966652;G/C missense_variant False PHLDB2@p.E1084K 1 0.1875 ENSG00000144824 chr3:111967759-111967759;G/A missense_variant False PHLDB2@p.E19V 1 0.15 ENSG00000144824 chr3:111884133-111884133;A/T missense_variant False PHLDB2@p.E863K 1 0.272727273 ENSG00000144824 chr3:111949031-111949031;G/A missense_variant False PHLDB2@p.E883K 1 0.116883117 ENSG00000144824 chr3:111952587-111952587;G/A missense_variant False PHLDB2@p.K659N 1 0.225806452 ENSG00000144824 chr3:111920395-111920395;G/C missense_variant False PHLDB2@p.L164V 1 0.193548387 ENSG00000144824 chr3:111884567-111884567;C/G missense_variant False PHLDB2@p.M1012I 1 0.150793651 ENSG00000144824 chr3:111962271-111962271;G/T missense_variant False PHLDB2@p.Q477H 1 0.454545455 ENSG00000144824 chr3:111913414-111913414;G/C missense_variant False PHLDB2@p.S277C 1 0.264705882 ENSG00000144824 chr3:111884907-111884907;C/G missense_variant False PHLDB3@p.E51K 1 0.552631579 ENSG00000176531 chr19:43503968-43503968;C/T missense_variant False PHLPP2@p.R147C 1 0.2 ENSG00000040199 chr16:71690689-71690689;G/A missense_variant False PHLDB3@p.E66K 1 0.2 ENSG00000176531 chr19:43503923-43503923;C/T missense_variant False PHLDB3@p.R4Q 1 0.625 ENSG00000176531 chr19:43504108-43504108;C/T missense_variant False PHLPP1@p.E1232Q 1 0.892857143 ENSG00000081913 chr18:62972647-62972647;G/C missense_variant False PHLPP1@p.E1578D 1 0.414634146 ENSG00000081913 chr18:62979011-62979011;G/T missense_variant False PHLPP1@p.L1283F 1 0.226277372 ENSG00000081913 chr18:62975490-62975490;G/C missense_variant False PHLPP1@p.Q863E 1 0.165048544 ENSG00000081913 chr18:62903106-62903106;C/G missense_variant False PHLPP1@p.S1423I 1 0.481481481 ENSG00000081913 chr18:62978545-62978545;G/T missense_variant False PHLPP1@p.T1282N 1 0.918367347 ENSG00000081913 chr18:62975486-62975486;C/A missense_variant False PHLPP2@p.E101K 1 0.269230769 ENSG00000040199 chr16:71702715-71702715;C/T missense_variant False PHLPP2@p.K208N 1 0.269230769 ENSG00000040199 chr16:71684587-71684587;C/G missense_variant False PHLPP2@p.L1033F 1 0.056872038 ENSG00000040199 chr16:71649763-71649763;C/G missense_variant False PHLPP2@p.P1050L 1 0.182572614 ENSG00000040199 chr16:71649713-71649713;G/A missense_variant False PHLPP2@p.P1184S 1 0.20610687 ENSG00000040199 chr16:71649312-71649312;G/A missense_variant False PHLPP2@p.R13K 1 0.470588235 ENSG00000040199 chr16:71714758-71714758;C/T missense_variant False PLCB3@p.E717K 1 0.293103448 ENSG00000149782 chr11:64262517-64262517;G/A missense_variant False PLCB3@p.S180L 1 0.182926829 ENSG00000149782 chr11:64255558-64255558;C/T missense_variant False POU3F1@p.D248Y 1 0.304347826 ENSG00000185668 chr1:38046002-38046002;C/A missense_variant False PODN@p.N197S 1 0.210702341 ENSG00000174348 chr1:53074645-53074645;A/G missense_variant False PODXL2@p.S333Y 1 0.205128205 ENSG00000114631 chr3:127661026-127661026;C/A missense_variant False PODXL2@p.S247L 1 0.390243902 ENSG00000114631 chr3:127660768-127660768;C/T missense_variant False PODXL2@p.S207Y 1 0.470588235 ENSG00000114631 chr3:127660648-127660648;C/A missense_variant False PODXL2@p.Q479H 1 0.306122449 ENSG00000114631 chr3:127671445-127671445;G/C missense_variant False PODXL2@p.E66K 1 0.071428571 ENSG00000114631 chr3:127639370-127639370;G/A missense_variant False PODN@p.R428S 1 0.231527094 ENSG00000174348 chr1:53078648-53078648;C/A missense_variant False PODN@p.L246V 1 0.23659306 ENSG00000174348 chr1:53077200-53077200;C/G missense_variant False POC1A@p.R81Q 1 0.181818182 ENSG00000164087 chr3:52149849-52149849;C/T missense_variant False PODN@p.E187D 1 0.235690236 ENSG00000174348 chr1:53074616-53074616;G/C missense_variant False POC5@p.S517L 1 0.37037037 ENSG00000152359 chr5:75677808-75677808;G/A missense_variant False POC5@p.R227K 1 0.129032258 ENSG00000152359 chr5:75694665-75694665;C/T missense_variant False POC5@p.M438I 1 0.177083333 ENSG00000152359 chr5:75685300-75685300;C/A missense_variant False POC1B-GALNT4@p.F482L 1 0.2 ENSG00000259075 chr12:89523095-89523095;G/C missense_variant False POC1B-GALNT4@p.E350D 1 0.155844156 ENSG00000259075 chr12:89523491-89523491;C/A missense_variant False PODXL@p.E498Q 1 0.181034483 ENSG00000128567 chr7:131504496-131504496;C/G missense_variant False POF1B@p.E432D 1 0.857142857 ENSG00000124429 chrX:85306202-85306202;C/A missense_variant False POF1B@p.P58Afs*61 1 0.15 ENSG00000124429 chrX:85379283-85379284;-/C frameshift_variant False POFUT1@p.E204K 1 0.31884058 ENSG00000101346 chr20:32228330-32228330;G/A missense_variant False POFUT1@p.S13F 1 0.470588235 ENSG00000101346 chr20:32207979-32207979;C/T missense_variant False POGK@p.A606S 1 0.065420561 ENSG00000143157 chr1:166850395-166850395;G/T missense_variant False POGK@p.E122K 1 0.098522167 ENSG00000143157 chr1:166848943-166848943;G/A missense_variant False POGK@p.E25K 1 0.330882353 ENSG00000143157 chr1:166841029-166841029;G/A missense_variant False POGK@p.H330Q 1 0.230337079 ENSG00000143157 chr1:166849569-166849569;C/G missense_variant False POGK@p.L370S 1 0.342465753 ENSG00000143157 chr1:166849688-166849688;T/C missense_variant False POGK@p.L8F 1 0.392523364 ENSG00000143157 chr1:166840978-166840978;C/T missense_variant False POGK@p.R311G 1 0.129310345 ENSG00000143157 chr1:166849510-166849510;C/G missense_variant False POGLUT1@p.D219H 1 0.272 ENSG00000163389 chr3:119486849-119486849;G/C missense_variant False POGLUT1@p.E365K 1 0.24 ENSG00000163389 chr3:119492352-119492352;G/A missense_variant False POGLUT1@p.F369L 1 0.448275862 ENSG00000163389 chr3:119492366-119492366;C/A missense_variant False POGLUT1@p.R226L 1 0.401360544 ENSG00000163389 chr3:119486871-119486871;G/T missense_variant False POGLUT2@p.E485K 1 0.168539326 ENSG00000134901 chr13:102786270-102786270;C/T missense_variant False POC1B-GALNT4@p.D115N 1 0.169230769 ENSG00000259075 chr12:89524198-89524198;C/T missense_variant False POC1A@p.R404K 1 0.229885057 ENSG00000164087 chr3:52075900-52075900;C/T missense_variant False PLCB3@p.T1122K 1 0.171641791 ENSG00000149782 chr11:64266503-64266503;C/A missense_variant False PNPLA5@p.F352L 1 0.247524752 ENSG00000100341 chr22:43884239-43884239;G/C missense_variant False PNPLA6@p.R909Q 1 0.3 ENSG00000032444 chr19:7554954-7554954;G/A missense_variant False PNPLA6@p.P1049L 1 0.060240964 ENSG00000032444 chr19:7556475-7556475;C/T missense_variant False PNPLA6@p.M62I 1 0.333333333 ENSG00000032444 chr19:7535947-7535947;G/A missense_variant False PNPLA6@p.I874M 1 0.128712871 ENSG00000032444 chr19:7554681-7554681;C/G missense_variant False PNPLA6@p.G1255E 1 0.543859649 ENSG00000032444 chr19:7560682-7560682;G/A missense_variant False PNPLA5@p.S232Afs*4 1 0.146496815 ENSG00000100341 chr22:43889338-43889338;G/- frameshift_variant False PNPLA4@p.V175A 1 0.08 ENSG00000006757 chrX:7902095-7902095;A/G missense_variant False POC1A@p.L380V 1 0.418367347 ENSG00000164087 chr3:52075973-52075973;G/C missense_variant False PNPLA3@p.S264L 1 0.369230769 ENSG00000100344 chr22:43937084-43937084;C/T missense_variant False PNPLA3@p.F17L 1 0.722222222 ENSG00000100344 chr22:43923962-43923962;C/A missense_variant False PNPLA3@p.E331Q 1 0.341463415 ENSG00000100344 chr22:43940004-43940004;G/C missense_variant False PNPLA3@p.A293P 1 0.25 ENSG00000100344 chr22:43937170-43937170;G/C missense_variant False PNPLA2@p.F147L 1 0.265306122 ENSG00000177666 chr11:821978-821978;C/A missense_variant False PNPLA1@p.S430P 1 0.267857143 ENSG00000180316 chr6:36302373-36302373;T/C missense_variant False PNPLA6@p.S1045L 1 0.548387097 ENSG00000032444 chr19:7556463-7556463;C/T missense_variant False PNPLA6@p.S121Y 1 0.477272727 ENSG00000032444 chr19:7536468-7536468;C/A missense_variant False PNPLA7@p.D126H 1 0.27388535 ENSG00000130653 chr9:137543487-137543487;C/G missense_variant False PNPLA7@p.D6G 1 0.1328125 ENSG00000130653 chr9:137550181-137550181;T/C missense_variant False PNPLA7@p.E150K 1 0.158415842 ENSG00000130653 chr9:137542785-137542785;C/T missense_variant False PNPLA7@p.E4D 1 0.443609023 ENSG00000130653 chr9:137550186-137550186;C/A missense_variant False PNPLA7@p.K102N 1 0.21875 ENSG00000130653 chr9:137543557-137543557;C/G missense_variant False PNPLA7@p.P725L 1 0.2 ENSG00000130653 chr9:137484685-137484685;G/A missense_variant False PNPLA7@p.T806M 1 0.29787234 ENSG00000130653 chr9:137480400-137480400;G/A missense_variant False PNPLA7@p.V585M 1 0.333333333 ENSG00000130653 chr9:137498175-137498175;C/T missense_variant False PNPLA8@p.A749T 1 0.192307692 ENSG00000135241 chr7:108472505-108472505;C/T missense_variant False PNPLA8@p.K318N 1 0.296610169 ENSG00000135241 chr7:108514538-108514538;C/G missense_variant False PNPLA8@p.K644_L646del 1 0.357142857 ENSG00000135241 chr7:108479320-108479328;AAGACATTT/- inframe_deletion False PNPO@p.E147K 1 0.095238095 ENSG00000108439 chr17:47946344-47946344;G/A missense_variant False PNRC1@p.E10K 1 0.107142857 ENSG00000146278 chr6:89080922-89080922;G/A missense_variant False PNRC1@p.H204Y 1 0.154761905 ENSG00000146278 chr6:89083822-89083822;C/T missense_variant False POC1A@p.I202V 1 0.343434343 ENSG00000164087 chr3:52145921-52145921;T/C missense_variant False POGLUT2@p.L277V 1 0.349152542 ENSG00000134901 chr13:102791274-102791274;G/C missense_variant False POGLUT2@p.Q161H 1 0.114754098 ENSG00000134901 chr13:102793712-102793712;C/G missense_variant False POGLUT2@p.S220P 1 0.240601504 ENSG00000134901 chr13:102793355-102793355;A/G missense_variant False POLE2@p.F14L 1 0.272727273 ENSG00000100479 chr14:49688162-49688162;G/C missense_variant False POLE@p.A1375V 1 0.12 ENSG00000177084 chr12:132648954-132648954;G/A missense_variant False POLE3@p.S116L 1 0.733333333 ENSG00000148229 chr9:113408908-113408908;G/A missense_variant False POLE3@p.D68H 1 0.291666667 ENSG00000148229 chr9:113409679-113409679;C/G missense_variant False POLE2@p.T122I 1 0.035856574 ENSG00000100479 chr14:49674175-49674175;G/A missense_variant False POLE2@p.R470I 1 0.465909091 ENSG00000100479 chr14:49650353-49650353;C/A missense_variant False POLE2@p.R429C 1 0.107142857 ENSG00000100479 chr14:49651304-49651304;G/A missense_variant False POLDIP3@p.R379C 1 0.238095238 ENSG00000100227 chr22:42585922-42585922;G/A missense_variant False POGLUT3@p.E220D 1 0.654545455 ENSG00000178202 chr11:108486181-108486181;C/G missense_variant False POLDIP3@p.Q58H 1 0.325 ENSG00000100227 chr22:42603046-42603046;C/G missense_variant False POLDIP3@p.P152S 1 0.377952756 ENSG00000100227 chr22:42602053-42602053;G/A missense_variant False POLDIP3@p.N174T 1 0.118181818 ENSG00000100227 chr22:42601986-42601986;T/G missense_variant False POLDIP3@p.L250F 1 0.098039216 ENSG00000100227 chr22:42596249-42596249;C/G missense_variant False POLDIP3@p.H161Y 1 0.288135593 ENSG00000100227 chr22:42602026-42602026;G/A missense_variant False POLDIP2@p.K223N 1 0.5 ENSG00000004142 chr17:28351754-28351754;C/G missense_variant False POLE@p.A1437dup 1 0.219895288 ENSG00000177084 chr12:132643540-132643541;-/GCC inframe_insertion False POLE@p.D1123H 1 0.165354331 ENSG00000177084 chr12:132657879-132657879;C/G missense_variant False POLE@p.D1960H 1 0.219512195 ENSG00000177084 chr12:132634312-132634312;C/G missense_variant False POLE@p.D23H 1 0.25 ENSG00000177084 chr12:132681275-132681275;C/G missense_variant False POLE@p.D529N 1 0.26446281 ENSG00000177084 chr12:132672728-132672728;C/T missense_variant False POLE@p.D83H 1 0.177777778 ENSG00000177084 chr12:132680645-132680645;C/G missense_variant False POLE@p.E1784K 1 0.166666667 ENSG00000177084 chr12:132641675-132641675;C/T missense_variant False POLE@p.E2085K 1 0.241935484 ENSG00000177084 chr12:132632392-132632392;C/T missense_variant False POLE@p.E311D 1 0.101123596 ENSG00000177084 chr12:132676181-132676181;C/G missense_variant False POLE@p.E537D 1 0.293478261 ENSG00000177084 chr12:132672702-132672702;C/G missense_variant False POLE@p.E575Q 1 0.316666667 ENSG00000177084 chr12:132672286-132672286;C/G missense_variant False POLE@p.H242D 1 0.314285714 ENSG00000177084 chr12:132677440-132677440;G/C missense_variant False POLE@p.L148F 1 0.171875 ENSG00000177084 chr12:132679631-132679631;C/G missense_variant False POLE@p.L1593V 1 0.27027027 ENSG00000177084 chr12:132642681-132642681;G/C missense_variant False POLE@p.M1998I 1 0.262295082 ENSG00000177084 chr12:132634196-132634196;C/G missense_variant False POLE@p.P286R 1 0.5 ENSG00000177084 chr12:132676598-132676598;G/C missense_variant False POLE@p.R1675C 1 0.358974359 ENSG00000177084 chr12:132642327-132642327;G/A missense_variant False POLD3@p.V100A 1 0.442028986 ENSG00000077514 chr11:74612917-74612917;T/C missense_variant False POLD3@p.R322G 1 0.205882353 ENSG00000077514 chr11:74629281-74629281;A/G missense_variant False POLD3@p.K364N 1 0.487804878 ENSG00000077514 chr11:74634668-74634668;G/T missense_variant False POLA2@p.E60K 1 0.223880597 ENSG00000014138 chr11:65266680-65266680;G/A missense_variant False POGLUT3@p.F170L 1 0.05 ENSG00000178202 chr11:108486333-108486333;A/G missense_variant False POGLUT3@p.R205Q 1 0.44 ENSG00000178202 chr11:108486227-108486227;C/T missense_variant False POGZ@p.D459N 1 0.590909091 ENSG00000143442 chr1:151424097-151424097;C/T missense_variant False POGZ@p.P198L 1 0.482014388 ENSG00000143442 chr1:151428389-151428389;G/A missense_variant False POGZ@p.R1002H 1 0.101769912 ENSG00000143442 chr1:151406030-151406030;C/T missense_variant False POGZ@p.S244F 1 0.697183099 ENSG00000143442 chr1:151428251-151428251;G/A missense_variant False POLA1@p.E786K 1 0.931818182 ENSG00000101868 chrX:24742029-24742029;G/A missense_variant False POLA1@p.H1250D 1 0.47826087 ENSG00000101868 chrX:24841681-24841681;C/G missense_variant False POLA1@p.L1370V 1 0.40625 ENSG00000101868 chrX:24888084-24888084;C/G missense_variant False POLA1@p.S736C 1 1.0 ENSG00000101868 chrX:24741383-24741383;C/G missense_variant False POLA1@p.T1378A 1 0.4375 ENSG00000101868 chrX:24888108-24888108;A/G missense_variant False POLA2@p.A529S 1 0.189781022 ENSG00000014138 chr11:65295928-65295928;G/T missense_variant False POLA2@p.D260N 1 0.225806452 ENSG00000014138 chr11:65281025-65281025;G/A missense_variant False POLA2@p.D362N 1 0.057471264 ENSG00000014138 chr11:65287793-65287793;G/A missense_variant False POLA2@p.G187E 1 0.297297297 ENSG00000014138 chr11:65278828-65278828;G/A missense_variant False POLD3@p.E12K 1 0.470588235 ENSG00000077514 chr11:74592692-74592692;G/A missense_variant False POLA2@p.M41I 1 0.142857143 ENSG00000014138 chr11:65266625-65266625;G/A missense_variant False POLA2@p.Q256H 1 0.294117647 ENSG00000014138 chr11:65281015-65281015;G/C missense_variant False POLA2@p.S425L 1 0.151260504 ENSG00000014138 chr11:65294182-65294182;C/T missense_variant False POLA2@p.S59L 1 0.416666667 ENSG00000014138 chr11:65266678-65266678;C/T missense_variant False POLA2@p.V527F 1 0.127659574 ENSG00000014138 chr11:65295922-65295922;G/T missense_variant False POLD1@p.D132N 1 0.346774194 ENSG00000062822 chr19:50401855-50401855;G/A missense_variant False POLD1@p.E1067K 1 0.5 ENSG00000062822 chr19:50417250-50417250;G/A missense_variant False POLD1@p.E715D 1 0.121212121 ENSG00000062822 chr19:50409657-50409657;G/T missense_variant False POLD1@p.F1099L 1 0.454545455 ENSG00000062822 chr19:50417920-50417920;C/G missense_variant False POLD1@p.G178W 1 0.477477477 ENSG00000062822 chr19:50402067-50402067;G/T missense_variant False POLD1@p.R817Q 1 0.462264151 ENSG00000062822 chr19:50414876-50414876;G/A missense_variant False POLD2@p.E210K 1 0.361111111 ENSG00000106628 chr7:44116969-44116969;C/T missense_variant False POLD2@p.E88K 1 0.208 ENSG00000106628 chr7:44118023-44118023;C/T missense_variant False POLD2@p.V94E 1 0.37254902 ENSG00000106628 chr7:44118004-44118004;A/T missense_variant False PNPLA1@p.S191C 1 0.119047619 ENSG00000180316 chr6:36294257-36294257;C/G missense_variant False PNPLA1@p.P381L 1 0.090909091 ENSG00000180316 chr6:36302227-36302227;C/T missense_variant False PNPLA1@p.E454Q 1 0.108527132 ENSG00000180316 chr6:36302445-36302445;G/C missense_variant False PMPCB@p.E94K 1 0.347826087 ENSG00000105819 chr7:103299482-103299482;G/A missense_variant False PMS1@p.E930K 1 0.142857143 ENSG00000064933 chr2:189877425-189877425;G/A missense_variant False PMS1@p.D397H 1 0.197916667 ENSG00000064933 chr2:189854461-189854461;G/C missense_variant False PMPCB@p.S77L 1 0.666666667 ENSG00000105819 chr7:103298698-103298698;C/T missense_variant False PMPCB@p.L25V 1 0.153846154 ENSG00000105819 chr7:103297532-103297532;C/G missense_variant False PMPCB@p.I221V 1 0.243243243 ENSG00000105819 chr7:103304415-103304415;A/G missense_variant False PMPCB@p.F477S 1 0.392405063 ENSG00000105819 chr7:103312231-103312231;T/C missense_variant False PMPCB@p.E122Q 1 0.164179104 ENSG00000105819 chr7:103300214-103300214;G/C missense_variant False PNISR@p.G392A 1 0.152173913 ENSG00000132424 chr6:99402692-99402692;C/G missense_variant False PMPCA@p.M183I 1 0.113924051 ENSG00000165688 chr9:136416307-136416307;G/A missense_variant False PMPCA@p.L510Rfs*5 1 0.161290323 ENSG00000165688 chr9:136423208-136423209;-/CCGC frameshift_variant False PMPCA@p.G85A 1 0.045698925 ENSG00000165688 chr9:136412179-136412179;G/C missense_variant False PMPCA@p.C266Y 1 0.386363636 ENSG00000165688 chr9:136417114-136417114;G/A missense_variant False PMP22@p.S47L 1 0.333333333 ENSG00000109099 chr17:15259132-15259132;G/A missense_variant False PMP22@p.S46F 1 0.109243697 ENSG00000109099 chr17:15259135-15259135;G/A missense_variant False PMS1@p.K667N 1 0.213483146 ENSG00000064933 chr2:189863887-189863887;G/T missense_variant False PMS1@p.L329F 1 0.152542373 ENSG00000064933 chr2:189854257-189854257;C/T missense_variant False PMS1@p.S426C 1 0.272727273 ENSG00000064933 chr2:189854549-189854549;C/G missense_variant False PMS1@p.S673C 1 0.102941176 ENSG00000064933 chr2:189863904-189863904;C/G missense_variant False PMS2@p.A636T 1 0.072 ENSG00000122512 chr7:5986859-5986859;C/T missense_variant False PMS2@p.A96V 1 0.051282051 ENSG00000122512 chr7:6003756-6003756;G/A missense_variant False PMS2@p.D464N 1 0.27607362 ENSG00000122512 chr7:5987375-5987375;C/T missense_variant False PMS2@p.E5K 1 0.214285714 ENSG00000122512 chr7:6009007-6009007;C/T missense_variant False PMS2@p.F291I 1 0.090909091 ENSG00000122512 chr7:5995566-5995566;A/T missense_variant False PMS2@p.H139Y 1 0.21969697 ENSG00000122512 chr7:6002575-6002575;G/A missense_variant False PMS2@p.S7L 1 0.492063492 ENSG00000122512 chr7:6009000-6009000;G/A missense_variant False PMVK@p.S113F 1 0.475 ENSG00000163344 chr1:154926458-154926458;G/A missense_variant False PNCK@p.E230G 1 0.175 ENSG00000130822 chrX:153671116-153671116;T/C missense_variant False PNCK@p.R135W 1 0.217391304 ENSG00000130822 chrX:153671891-153671891;G/A missense_variant False PNCK@p.S161C 1 0.2 ENSG00000130822 chrX:153671605-153671605;G/C missense_variant False PNISR@p.E295K 1 0.157894737 ENSG00000132424 chr6:99406150-99406150;C/T missense_variant False PNISR@p.E501Q 1 0.467532468 ENSG00000132424 chr6:99401457-99401457;C/G missense_variant False PMM2@p.E235K 1 0.245098039 ENSG00000140650 chr16:8847787-8847787;G/A missense_variant False PMM2@p.E197_N198del 1 0.105990783 ENSG00000140650 chr16:8813056-8813061;GAAAAT/- inframe_deletion False PMM1@p.R43Q 1 0.366336634 ENSG00000100417 chr22:41586153-41586153;C/T missense_variant False PMEPA1@p.R201S 1 0.224137931 ENSG00000124225 chr20:57652314-57652314;C/A missense_variant False PLXND1@p.E1749K 1 0.426086957 ENSG00000004399 chr3:129559672-129559672;C/T missense_variant False PLXND1@p.E595K 1 0.19379845 ENSG00000004399 chr3:129586020-129586020;C/T missense_variant False PLXND1@p.P1044A 1 0.15625 ENSG00000004399 chr3:129571792-129571792;G/C missense_variant False PLXND1@p.Q1715H 1 0.359223301 ENSG00000004399 chr3:129559772-129559772;C/A missense_variant False PLXND1@p.Q1747E 1 0.347368421 ENSG00000004399 chr3:129559678-129559678;G/C missense_variant False PLXND1@p.R1885Q 1 0.317073171 ENSG00000004399 chr3:129556624-129556624;C/T missense_variant False PLXND1@p.V209M 1 0.15 ENSG00000004399 chr3:129606015-129606015;C/T missense_variant False PM20D1@p.H498Y 1 0.24 ENSG00000162877 chr1:205828637-205828637;G/A missense_variant False PM20D1@p.S418F 1 0.289473684 ENSG00000162877 chr1:205832630-205832630;G/A missense_variant False PMCH@p.F91L 1 0.416666667 ENSG00000183395 chr12:102197148-102197148;G/T missense_variant False PMEL@p.C60Y 1 0.06122449 ENSG00000185664 chr12:55961630-55961630;C/T missense_variant False PMEL@p.E506K 1 0.194174757 ENSG00000185664 chr12:55955819-55955819;C/T missense_variant False PMEL@p.T108N 1 0.6 ENSG00000185664 chr12:55961328-55961328;G/T missense_variant False PMEPA1@p.D193Y 1 0.102040816 ENSG00000124225 chr20:57652340-57652340;C/A missense_variant False PMEPA1@p.T264A 1 0.363636364 ENSG00000124225 chr20:57652127-57652127;T/C missense_variant False PMM1@p.Q244E 1 0.470588235 ENSG00000100417 chr22:41577377-41577377;G/C missense_variant False PMF1@p.L46I 1 0.101449275 ENSG00000160783 chr1:156213151-156213151;C/A missense_variant False PMFBP1@p.D749N 1 0.142857143 ENSG00000118557 chr16:72125991-72125991;C/T missense_variant False PMFBP1@p.E641K 1 0.048780488 ENSG00000118557 chr16:72129110-72129110;C/T missense_variant False PMFBP1@p.E755K 1 0.286821705 ENSG00000118557 chr16:72125973-72125973;C/T missense_variant False PMFBP1@p.E810K 1 0.274509804 ENSG00000118557 chr16:72125246-72125246;C/T missense_variant False PMFBP1@p.E907K 1 0.228813559 ENSG00000118557 chr16:72122978-72122978;C/T missense_variant False PMFBP1@p.R260Q 1 0.175084175 ENSG00000118557 chr16:72140440-72140440;C/T missense_variant False PML@p.A167G 1 0.126984127 ENSG00000140464 chr15:73998374-73998374;C/G missense_variant False PML@p.E142Q 1 0.184615385 ENSG00000140464 chr15:73998298-73998298;G/C missense_variant False PML@p.E716K 1 0.3 ENSG00000140464 chr15:74044505-74044505;G/A missense_variant False PML@p.L757F 1 0.138888889 ENSG00000140464 chr15:74044628-74044628;C/T missense_variant False PML@p.R751C 1 0.376146789 ENSG00000140464 chr15:74044610-74044610;C/T missense_variant False PMM1@p.E34Q 1 0.212765957 ENSG00000100417 chr22:41586181-41586181;C/G missense_variant False PMM1@p.E61K 1 0.280952381 ENSG00000100417 chr22:41586100-41586100;C/T missense_variant False PNISR@p.F704L 1 0.333333333 ENSG00000132424 chr6:99400848-99400848;A/G missense_variant False PNISR@p.R310K 1 0.272727273 ENSG00000132424 chr6:99406104-99406104;C/T missense_variant False PNP@p.Q273H 1 0.185185185 ENSG00000198805 chr14:20476550-20476550;G/C missense_variant False PNMA8A@p.G90Vfs*18 1 0.375 ENSG00000182013 chr19:46470767-46470767;C/- frameshift_variant False PNMA8B@p.E445K 1 0.344444444 ENSG00000204851 chr19:46494133-46494133;C/T missense_variant False PNMA8B@p.E36K 1 0.443181818 ENSG00000204851 chr19:46495360-46495360;C/T missense_variant False PNMA8B@p.E31K 1 0.206896552 ENSG00000204851 chr19:46495375-46495375;C/T missense_variant False PNMA8B@p.E193K 1 0.338983051 ENSG00000204851 chr19:46494889-46494889;C/T missense_variant False PNMA8A@p.S80C 1 0.208333333 ENSG00000182013 chr19:46470798-46470798;T/A missense_variant False PNMA8A@p.S285L 1 0.29787234 ENSG00000182013 chr19:46470182-46470182;G/A missense_variant False PNMA8A@p.D165H 1 0.395638629 ENSG00000182013 chr19:46470543-46470543;C/G missense_variant False PNISR@p.W235S 1 0.224137931 ENSG00000132424 chr6:99408241-99408241;C/G missense_variant False PNMA5@p.I67T 1 0.197368421 ENSG00000198883 chrX:152991399-152991399;A/G missense_variant False PNMA2@p.V129M 1 0.428571429 ENSG00000240694 chr8:26508371-26508371;C/T missense_variant False PNMA2@p.T24M 1 0.516129032 ENSG00000240694 chr8:26508685-26508685;G/A missense_variant False PNMA2@p.S266L 1 0.405405405 ENSG00000240694 chr8:26507959-26507959;G/A missense_variant False PNMA2@p.R283H 1 0.275 ENSG00000240694 chr8:26507908-26507908;C/T missense_variant False PNMA2@p.E350K 1 0.305882353 ENSG00000240694 chr8:26507708-26507708;C/T missense_variant False PNMA8B@p.G29D 1 0.376623377 ENSG00000204851 chr19:46495380-46495380;C/T missense_variant False PNMA8B@p.H18R 1 0.125 ENSG00000204851 chr19:46495413-46495413;T/C missense_variant False PNMA8B@p.S507L 1 0.111111111 ENSG00000204851 chr19:46493946-46493946;G/A missense_variant False PNMT@p.F65L 1 0.333333333 ENSG00000141744 chr17:39668670-39668670;C/G missense_variant False PNN@p.A343V 1 0.25 ENSG00000100941 chr14:39180737-39180737;C/T missense_variant False PNN@p.E136K 1 0.306122449 ENSG00000100941 chr14:39177671-39177671;G/A missense_variant False PNN@p.E17D 1 0.205128205 ENSG00000100941 chr14:39175330-39175330;G/C missense_variant False PNN@p.E24K 1 0.222222222 ENSG00000100941 chr14:39175349-39175349;G/A missense_variant False PNN@p.T322A 1 0.423076923 ENSG00000100941 chr14:39180673-39180673;A/G missense_variant False PNO1@p.E164Q 1 0.109756098 ENSG00000115946 chr2:68162313-68162313;G/C missense_variant False PNO1@p.V59F 1 0.315789474 ENSG00000115946 chr2:68158109-68158109;G/T missense_variant False PNOC@p.E78Q 1 0.583333333 ENSG00000168081 chr8:28339145-28339145;G/C missense_variant False PNOC@p.Q127H 1 0.12195122 ENSG00000168081 chr8:28339294-28339294;G/T missense_variant False PNOC@p.Q146H 1 0.175 ENSG00000168081 chr8:28339351-28339351;G/C missense_variant False PNP@p.E125Q 1 0.315789474 ENSG00000198805 chr14:20474860-20474860;G/C missense_variant False PNP@p.E186K 1 0.169811321 ENSG00000198805 chr14:20475156-20475156;G/A missense_variant False PNP@p.I136M 1 0.454545455 ENSG00000198805 chr14:20474895-20474895;C/G missense_variant False PNMA1@p.K274R 1 0.446808511 ENSG00000176903 chr14:73712819-73712819;T/C missense_variant False PNMA1@p.E34K 1 0.251028807 ENSG00000176903 chr14:73713540-73713540;C/T missense_variant False PNMA1@p.E241Q 1 0.225274725 ENSG00000176903 chr14:73712919-73712919;C/G missense_variant False PNLIP@p.S304F 1 0.257142857 ENSG00000175535 chr10:116556099-116556099;C/T missense_variant False PNKD@p.L286I 1 0.272727273 ENSG00000127838 chr2:218343574-218343574;C/A missense_variant False PNKD@p.S46F 1 0.718309859 ENSG00000127838 chr2:218271450-218271450;C/T missense_variant False PNKP@p.E198D 1 0.145833333 ENSG00000039650 chr19:49864221-49864221;C/G missense_variant False PNKP@p.L10S 1 0.170212766 ENSG00000039650 chr19:49867176-49867176;A/G missense_variant False PNKP@p.S349L 1 0.24137931 ENSG00000039650 chr19:49862265-49862265;G/A missense_variant False PNLDC1@p.D292N 1 0.093333333 ENSG00000146453 chr6:159811754-159811754;G/A missense_variant False PNLDC1@p.E340K 1 0.065420561 ENSG00000146453 chr6:159816024-159816024;G/A missense_variant False PNLDC1@p.E435K 1 0.582677165 ENSG00000146453 chr6:159819024-159819024;G/A missense_variant False PNLDC1@p.F10V 1 0.387301587 ENSG00000146453 chr6:159800756-159800756;T/G missense_variant False PNLDC1@p.F356C 1 0.271929825 ENSG00000146453 chr6:159816582-159816582;T/G missense_variant False PNLDC1@p.H335D 1 0.275 ENSG00000146453 chr6:159816009-159816009;C/G missense_variant False PNLDC1@p.Q48H 1 0.14084507 ENSG00000146453 chr6:159801155-159801155;G/C missense_variant False PNLDC1@p.S239Y 1 0.5 ENSG00000146453 chr6:159809124-159809124;C/A missense_variant False PNLIP@p.K49R 1 0.142857143 ENSG00000175535 chr10:116547393-116547393;A/G missense_variant False PNLIP@p.T221M 1 0.391304348 ENSG00000175535 chr10:116555268-116555268;C/T missense_variant False PNMA1@p.D282N 1 0.46031746 ENSG00000176903 chr14:73712796-73712796;C/T missense_variant False PNLIP@p.T453I 1 0.894736842 ENSG00000175535 chr10:116567758-116567758;C/T missense_variant False PNLIPRP1@p.A15D 1 0.24137931 ENSG00000187021 chr10:116591173-116591173;C/A missense_variant False PNLIPRP1@p.D107G 1 0.125 ENSG00000187021 chr10:116592531-116592531;A/G missense_variant False PNLIPRP1@p.E443Q 1 0.475247525 ENSG00000187021 chr10:116605540-116605540;G/C missense_variant False PNLIPRP1@p.F96I 1 0.936507937 ENSG00000187021 chr10:116592497-116592497;T/A missense_variant False PNLIPRP1@p.K431N 1 0.222222222 ENSG00000187021 chr10:116605506-116605506;A/T missense_variant False PNLIPRP1@p.Q149H 1 0.19047619 ENSG00000187021 chr10:116594846-116594846;G/C missense_variant False PNLIPRP1@p.S159T 1 0.17699115 ENSG00000187021 chr10:116596224-116596224;G/C missense_variant False PNLIPRP1@p.S202I 1 0.189189189 ENSG00000187021 chr10:116597858-116597858;G/T missense_variant False PNLIPRP2@p.E116K 1 0.5 ENSG00000266200 chr10:116626879-116626879;G/A missense_variant False PNLIPRP2@p.E459Q 1 0.275862069 ENSG00000266200 chr10:116645065-116645065;G/C missense_variant False PNLIPRP2@p.R182S 1 0.333333333 ENSG00000266200 chr10:116627843-116627843;G/C missense_variant False PNLIPRP3@p.D405N 1 0.458333333 ENSG00000203837 chr10:116476692-116476692;G/A missense_variant False PNLIPRP3@p.P321T 1 0.488372093 ENSG00000203837 chr10:116469218-116469218;C/A missense_variant False POLE@p.R1691H 1 0.404761905 ENSG00000177084 chr12:132642278-132642278;C/T missense_variant False POLE@p.Y85C 1 0.326388889 ENSG00000177084 chr12:132680638-132680638;T/C missense_variant False POLG2@p.D26H 1 0.265432099 ENSG00000256525 chr17:64496893-64496893;C/G missense_variant False POM121C@p.D311H 1 0.093220339 ENSG00000272391 chr7:75440976-75440976;C/G missense_variant False POM121L12@p.P154S 1 0.307692308 ENSG00000221900 chr7:53036131-53036131;C/T missense_variant False POM121L12@p.P136T 1 0.466666667 ENSG00000221900 chr7:53036077-53036077;C/A missense_variant False POM121L12@p.N129S 1 0.406779661 ENSG00000221900 chr7:53036057-53036057;A/G missense_variant False POM121L12@p.E95Q 1 0.434782609 ENSG00000221900 chr7:53035954-53035954;G/C missense_variant False POM121C@p.T1167N 1 0.076923077 ENSG00000272391 chr7:75419412-75419412;G/T missense_variant False POM121C@p.E304K 1 0.128787879 ENSG00000272391 chr7:75440997-75440997;C/T missense_variant False POM121@p.V1212Cfs*? 1 0.230769231 ENSG00000196313 chr7:72945686-72945687;-/T frameshift_variant False PON2@p.A202V 1 0.414772727 ENSG00000105854 chr7:95409991-95409991;G/A missense_variant False POM121@p.T484Nfs*21 1 0.268792711 ENSG00000196313 chr7:72939855-72939856;AC/- frameshift_variant False POM121@p.S749L 1 0.076086957 ENSG00000196313 chr7:72942239-72942239;C/T missense_variant False POM121@p.S714P 1 0.083333333 ENSG00000196313 chr7:72942133-72942133;T/C missense_variant False POM121@p.S492W 1 0.254143646 ENSG00000196313 chr7:72939880-72939880;C/G missense_variant False POM121@p.S392F 1 0.193939394 ENSG00000196313 chr7:72930011-72930011;C/T missense_variant False POM121@p.N1114S 1 0.721518987 ENSG00000196313 chr7:72943334-72943334;A/G missense_variant False POM121L12@p.P235S 1 0.205479452 ENSG00000221900 chr7:53036374-53036374;C/T missense_variant False POMGNT1@p.E489V 1 0.078125 ENSG00000085998 chr1:46192171-46192171;T/A missense_variant False POMGNT1@p.E553K 1 0.293103448 ENSG00000085998 chr1:46189982-46189982;C/T missense_variant False POMGNT1@p.R616Q 1 0.1875 ENSG00000085998 chr1:46189506-46189506;C/T missense_variant False POMGNT1@p.R91K 1 0.427083333 ENSG00000085998 chr1:46196813-46196813;C/T missense_variant False POMGNT2@p.D418G 1 0.176470588 ENSG00000144647 chr3:43080179-43080179;T/C missense_variant False POMGNT2@p.E91K 1 0.261538462 ENSG00000144647 chr3:43081161-43081161;C/T missense_variant False POMK@p.Q130H 1 0.171052632 ENSG00000185900 chr8:43122214-43122214;A/T missense_variant False POMK@p.Q345K 1 0.463636364 ENSG00000185900 chr8:43122857-43122857;C/A missense_variant False POMT1@p.H130D 1 0.435294118 ENSG00000130714 chr9:131507475-131507475;C/G missense_variant False POMT1@p.L17F 1 0.102803738 ENSG00000130714 chr9:131504269-131504269;G/C missense_variant False POMT1@p.R90T 1 0.199004975 ENSG00000130714 chr9:131506442-131506442;G/C missense_variant False POMT2@p.E562K 1 0.326732673 ENSG00000009830 chr14:77280433-77280433;C/T missense_variant False POMZP3@p.E63Q 1 0.273109244 ENSG00000146707 chr7:76625562-76625562;C/G missense_variant False PON1@p.E239Q 1 0.227272727 ENSG00000005421 chr7:95306350-95306350;C/G missense_variant False PON1@p.K70N 1 0.256756757 ENSG00000005421 chr7:95315482-95315482;C/A missense_variant False PON1@p.L351V 1 0.323529412 ENSG00000005421 chr7:95298961-95298961;G/C missense_variant False POM121@p.E739Q 1 0.209677419 ENSG00000196313 chr7:72942208-72942208;G/C missense_variant False POLRMT@p.Q992H 1 0.064257028 ENSG00000099821 chr19:619676-619676;C/A missense_variant False POLRMT@p.G97A 1 0.268292683 ENSG00000099821 chr19:630072-630072;C/G missense_variant False POLR3C@p.E109K 1 0.582278481 ENSG00000186141 chr1:145826631-145826631;G/A missense_variant False POLR2M@p.A63S 1 0.362068966 ENSG00000255529 chr15:57708787-57708787;G/T missense_variant False POLR2M@p.E67Q 1 0.205479452 ENSG00000255529 chr15:57708799-57708799;G/C missense_variant False POLR3A@p.E1255K 1 0.442675159 ENSG00000148606 chr10:77981556-77981556;C/T missense_variant False POLR3A@p.E324Q 1 0.087719298 ENSG00000148606 chr10:78021938-78021938;C/G missense_variant False POLR3A@p.E937K 1 0.576271186 ENSG00000148606 chr10:77991146-77991146;C/T missense_variant False POLR3A@p.F558S 1 0.233333333 ENSG00000148606 chr10:78009961-78009961;A/G missense_variant False POLR3A@p.M1280I 1 0.204545455 ENSG00000148606 chr10:77981479-77981479;C/T missense_variant False POLR3A@p.R452T 1 0.118644068 ENSG00000148606 chr10:78017651-78017651;C/G missense_variant False POLR3A@p.S467L 1 0.414893617 ENSG00000148606 chr10:78017606-78017606;G/A missense_variant False POLR3A@p.S570L 1 0.283783784 ENSG00000148606 chr10:78009925-78009925;G/A missense_variant False POLR3A@p.T983N 1 0.266009852 ENSG00000148606 chr10:77986113-77986113;G/T missense_variant False POLR3B@p.E88K 1 0.171052632 ENSG00000013503 chr12:106369309-106369309;G/A missense_variant False POLR3B@p.R428T 1 0.353535354 ENSG00000013503 chr12:106430292-106430292;G/C missense_variant False POLR3B@p.V977I 1 0.279069767 ENSG00000013503 chr12:106496863-106496863;G/A missense_variant False POLR3C@p.E462Q 1 0.178571429 ENSG00000186141 chr1:145840932-145840932;G/C missense_variant False POLRMT@p.E76K 1 0.486338798 ENSG00000099821 chr19:630136-630136;C/T missense_variant False POLR3C@p.E488Q 1 0.087301587 ENSG00000186141 chr1:145841010-145841010;G/C missense_variant False POLR3C@p.G25A 1 0.1875 ENSG00000186141 chr1:145825850-145825850;G/C missense_variant False POLR3C@p.G324E 1 0.19047619 ENSG00000186141 chr1:145836828-145836828;G/A missense_variant False POLR3C@p.M490I 1 0.177570093 ENSG00000186141 chr1:145841018-145841018;G/A missense_variant False POLR3C@p.R364T 1 0.315068493 ENSG00000186141 chr1:145838076-145838076;G/C missense_variant False POLR3C@p.R37T 1 0.37037037 ENSG00000186141 chr1:145825886-145825886;G/C missense_variant False POLR3C@p.T102I 1 0.477477477 ENSG00000186141 chr1:145826611-145826611;C/T missense_variant False POLR3D@p.S355Y 1 0.27027027 ENSG00000168495 chr8:22250217-22250217;C/A missense_variant False POLR3E@p.F385Y 1 0.333333333 ENSG00000058600 chr16:22324528-22324528;T/A missense_variant False POLR3E@p.R496Q 1 0.2 ENSG00000058600 chr16:22325899-22325899;G/A missense_variant False POLR3F@p.E215A 1 0.53125 ENSG00000132664 chr20:18480472-18480472;A/C missense_variant False POLR3GL@p.V161I 1 0.653846154 ENSG00000121851 chr1:145978007-145978007;G/A missense_variant False POLR3H@p.D56N 1 0.297297297 ENSG00000100413 chr22:41540741-41540741;C/T missense_variant False POLRMT@p.E1011K 1 0.298507463 ENSG00000099821 chr19:619621-619621;C/T missense_variant False PON1@p.S152L 1 0.137931034 ENSG00000005421 chr7:95311493-95311493;G/A missense_variant False PON2@p.V332L 1 0.155963303 ENSG00000105854 chr7:95405401-95405401;C/A missense_variant False POLR2H@p.S105C 1 0.405405405 ENSG00000163882 chr3:184366779-184366779;C/G missense_variant False POTEE@p.G713C 1 0.451612903 ENSG00000188219 chr2:131263592-131263592;G/T missense_variant False POTEF@p.G551A 1 0.593220339 ENSG00000196604 chr2:130085940-130085940;C/G missense_variant False POTEF@p.D412N 1 0.359550562 ENSG00000196604 chr2:130100684-130100684;C/T missense_variant False POTEE@p.W148G 1 0.102564103 ENSG00000188219 chr2:131218844-131218844;T/G missense_variant False POTEE@p.L696V 1 0.19047619 ENSG00000188219 chr2:131263541-131263541;T/G missense_variant False POTEE@p.L324V 1 0.182432432 ENSG00000188219 chr2:131228296-131228296;C/G missense_variant False POTEE@p.G856D 1 0.272727273 ENSG00000188219 chr2:131264022-131264022;G/A missense_variant False POTEE@p.E937Q 1 0.219672131 ENSG00000188219 chr2:131264264-131264264;G/C missense_variant False PON3@p.L190Q 1 0.372727273 ENSG00000105852 chr7:95363989-95363989;A/T missense_variant False POTED@p.R524P 1 0.115044248 ENSG00000166351 chr21:13641382-13641382;G/C missense_variant False POTEA@p.P161S 1 0.625 ENSG00000188877 chr8:43297352-43297352;C/T missense_variant False POTEA@p.H60Y 1 0.05511811 ENSG00000188877 chr8:43292662-43292662;C/T missense_variant False POTEA@p.G44S 1 0.25 ENSG00000188877 chr8:43292614-43292614;G/A missense_variant False POTEA@p.E113K 1 0.154639175 ENSG00000188877 chr8:43297057-43297057;G/A missense_variant False POT1@p.V529M 1 0.123595506 ENSG00000128513 chr7:124829263-124829263;C/T missense_variant False POTEF@p.L1046M 1 0.45 ENSG00000196604 chr2:130074336-130074336;G/T missense_variant False POTEF@p.M657V 1 0.384615385 ENSG00000196604 chr2:130075503-130075503;T/C missense_variant False POTEF@p.N689H 1 0.558823529 ENSG00000196604 chr2:130075407-130075407;T/G missense_variant False POTEF@p.Q582H 1 1.0 ENSG00000196604 chr2:130085846-130085846;T/G missense_variant False POTEF@p.R196Q 1 0.186440678 ENSG00000196604 chr2:130115263-130115263;C/T missense_variant False POTEF@p.S369C 1 0.272727273 ENSG00000196604 chr2:130108029-130108029;G/C missense_variant False POTEH@p.P70T 1 0.125252525 ENSG00000198062 chr22:15690285-15690285;C/A missense_variant False POTEH@p.T93K 1 0.233486943 ENSG00000198062 chr22:15690355-15690355;C/A missense_variant False POTEH@p.W71R 1 0.206349206 ENSG00000198062 chr22:15690288-15690288;T/C missense_variant False POTEM@p.D378Y 1 0.307692308 ENSG00000222036 chr14:18985416-18985416;G/T missense_variant False POTEM@p.P119H 1 0.35678392 ENSG00000222036 chr14:18967841-18967841;C/A missense_variant False POU2AF1@p.S211C 1 0.745454545 ENSG00000110777 chr11:111354400-111354400;G/C missense_variant False POU2AF1@p.T92I 1 0.29787234 ENSG00000110777 chr11:111357626-111357626;G/A missense_variant False POU2F1@p.E347Q 1 0.262711864 ENSG00000143190 chr1:167396406-167396406;G/C missense_variant False POU2F1@p.K337N 1 0.418181818 ENSG00000143190 chr1:167396378-167396378;G/C missense_variant False POU2F1@p.M631I 1 0.452054795 ENSG00000143190 chr1:167413086-167413086;G/C missense_variant False POU2F1@p.R328Q 1 0.909090909 ENSG00000143190 chr1:167396350-167396350;G/A missense_variant False POT1@p.S303L 1 0.166666667 ENSG00000128513 chr7:124851913-124851913;G/A missense_variant False POT1@p.S178L 1 0.086419753 ENSG00000128513 chr7:124863363-124863363;G/A missense_variant False POT1@p.S119L 1 0.116666667 ENSG00000128513 chr7:124863540-124863540;G/A missense_variant False POSTN@p.C60Y 1 0.085365854 ENSG00000133110 chr13:37597223-37597223;C/T missense_variant False PON3@p.V239L 1 0.171875 ENSG00000105852 chr7:95362822-95362822;C/A missense_variant False POP1@p.E73K 1 0.173469388 ENSG00000104356 chr8:98127669-98127669;G/A missense_variant False POP1@p.E824K 1 0.474576271 ENSG00000104356 chr8:98157666-98157666;G/A missense_variant False POP1@p.R111L 1 0.340909091 ENSG00000104356 chr8:98128386-98128386;G/T missense_variant False POP1@p.S412C 1 0.102564103 ENSG00000104356 chr8:98136705-98136705;C/G missense_variant False POP1@p.S995F 1 0.103092784 ENSG00000104356 chr8:98158180-98158180;C/T missense_variant False POP1@p.V228L 1 0.237410072 ENSG00000104356 chr8:98130173-98130173;G/C missense_variant False POP1@p.V976I 1 0.215053763 ENSG00000104356 chr8:98158122-98158122;G/A missense_variant False POP7@p.D109G 1 0.960264901 ENSG00000172336 chr7:100707156-100707156;A/G missense_variant False POPDC2@p.S162C 1 0.355555556 ENSG00000121577 chr3:119659939-119659939;G/C missense_variant False POPDC3@p.E26Q 1 0.231884058 ENSG00000132429 chr6:105161834-105161834;C/G missense_variant False POPDC3@p.F41L 1 0.427350427 ENSG00000132429 chr6:105161787-105161787;G/T missense_variant False POPDC3@p.R255Dfs*24 1 0.338028169 ENSG00000132429 chr6:105158583-105158583;T/- frameshift_variant False PORCN@p.E246K 1 0.305555556 ENSG00000102312 chrX:48514256-48514256;G/A missense_variant False POSTN@p.E298Kfs*4 1 0.388888889 ENSG00000133110 chr13:37586143-37586143;G/- frameshift_variant False POT1@p.R273W 1 0.355555556 ENSG00000128513 chr7:124853024-124853024;G/A missense_variant False POSTN@p.E325Q 1 0.138297872 ENSG00000133110 chr13:37584851-37584851;C/G missense_variant False POSTN@p.G570A 1 0.150537634 ENSG00000133110 chr13:37579311-37579311;C/G missense_variant False POSTN@p.L165I 1 0.322580645 ENSG00000133110 chr13:37587935-37587935;A/T missense_variant False POSTN@p.L779M 1 0.355704698 ENSG00000133110 chr13:37569756-37569756;A/T missense_variant False POSTN@p.R423C 1 0.564102564 ENSG00000133110 chr13:37582491-37582491;G/A missense_variant False POSTN@p.S766C 1 0.138888889 ENSG00000133110 chr13:37569794-37569794;G/C missense_variant False POT1@p.A140T 1 0.240384615 ENSG00000128513 chr7:124863478-124863478;C/T missense_variant False POT1@p.D284N 1 0.3 ENSG00000128513 chr7:124852991-124852991;C/T missense_variant False POT1@p.E173K 1 0.126865672 ENSG00000128513 chr7:124863379-124863379;C/T missense_variant False POT1@p.F31C 1 0.428571429 ENSG00000128513 chr7:124892298-124892298;A/C missense_variant False POT1@p.F31L 1 0.194029851 ENSG00000128513 chr7:124892297-124892297;G/C missense_variant False POT1@p.G64A 1 0.196721311 ENSG00000128513 chr7:124870975-124870975;C/G missense_variant False POT1@p.K355I 1 0.204301075 ENSG00000128513 chr7:124842906-124842906;T/A missense_variant False POT1@p.P5S 1 0.404494382 ENSG00000128513 chr7:124892377-124892377;G/A missense_variant False POLR2I@p.E8Q 1 0.303886926 ENSG00000105258 chr19:36114835-36114835;C/G missense_variant False POLR2H@p.L148P 1 0.257425743 ENSG00000163882 chr3:184368284-184368284;T/C missense_variant False POLG2@p.D308E 1 0.079710145 ENSG00000256525 chr17:64490841-64490841;A/C missense_variant False POLN@p.E649Q 1 0.623376623 ENSG00000130997 chr4:2128150-2128150;C/G missense_variant False POLN@p.S613L 1 0.247311828 ENSG00000130997 chr4:2129208-2129208;G/A missense_variant False POLN@p.S288F 1 0.505747126 ENSG00000130997 chr4:2198569-2198569;G/A missense_variant False POLN@p.S187F 1 0.373626374 ENSG00000130997 chr4:2208141-2208141;G/A missense_variant False POLN@p.N382K 1 0.40625 ENSG00000130997 chr4:2179341-2179341;G/T missense_variant False POLN@p.I152V 1 0.142857143 ENSG00000130997 chr4:2208247-2208247;T/C missense_variant False POLN@p.G188W 1 0.18627451 ENSG00000130997 chr4:2208139-2208139;C/A missense_variant False POLN@p.E467Q 1 0.661290323 ENSG00000130997 chr4:2171157-2171157;C/G missense_variant False POLR1A@p.D1442N 1 0.25 ENSG00000068654 chr2:86031584-86031584;C/T missense_variant False POLN@p.E370Q 1 0.256410256 ENSG00000130997 chr4:2179379-2179379;C/G missense_variant False POLM@p.M87I 1 0.24 ENSG00000122678 chr7:44080844-44080844;C/T missense_variant False POLM@p.M39V 1 0.35 ENSG00000122678 chr7:44082324-44082324;T/C missense_variant False POLM@p.E224G 1 0.210526316 ENSG00000122678 chr7:44078783-44078783;T/C missense_variant False POLM@p.E207Q 1 0.361538462 ENSG00000122678 chr7:44079594-44079594;C/G missense_variant False POLM@p.D252N 1 0.4 ENSG00000122678 chr7:44076590-44076590;C/T missense_variant False POLQ@p.A29D 1 0.307692308 ENSG00000051341 chr3:121545792-121545792;G/T missense_variant False POLQ@p.D1574H 1 0.388888889 ENSG00000051341 chr3:121488211-121488211;C/G missense_variant False POLQ@p.E1474K 1 0.157142857 ENSG00000051341 chr3:121488511-121488511;C/T missense_variant False POLQ@p.E1700Q 1 0.5 ENSG00000051341 chr3:121487833-121487833;C/G missense_variant False POLQ@p.E917K 1 0.467391304 ENSG00000051341 chr3:121490182-121490182;C/T missense_variant False POLQ@p.F2533V 1 0.2 ENSG00000051341 chr3:121432980-121432980;A/C missense_variant False POLQ@p.H2341Y 1 0.526666667 ENSG00000051341 chr3:121460181-121460181;G/A missense_variant False POLQ@p.I2258M 1 0.361867704 ENSG00000051341 chr3:121468376-121468376;G/C missense_variant False POLQ@p.I493M 1 0.155172414 ENSG00000051341 chr3:121512019-121512019;G/C missense_variant False POLQ@p.K167T 1 0.041237113 ENSG00000051341 chr3:121539564-121539564;T/G missense_variant False POLQ@p.K2155N 1 0.48 ENSG00000051341 chr3:121473428-121473428;C/A missense_variant False POLQ@p.L801V 1 0.352112676 ENSG00000051341 chr3:121493599-121493599;A/C missense_variant False POLQ@p.M172Tfs*24 1 0.142857143 ENSG00000051341 chr3:121539543-121539549;CTGCCCA/- frameshift_variant False POLQ@p.Q2059E 1 0.523076923 ENSG00000051341 chr3:121481608-121481608;G/C missense_variant False POLQ@p.Q2271E 1 0.292035398 ENSG00000051341 chr3:121468339-121468339;G/C missense_variant False POLQ@p.R2074C 1 0.333333333 ENSG00000051341 chr3:121476725-121476725;G/A missense_variant False POLQ@p.S1934C 1 0.18 ENSG00000051341 chr3:121483555-121483555;G/C missense_variant False POLL@p.E396Q 1 0.360655738 ENSG00000166169 chr10:101582771-101582771;C/G missense_variant False POLK@p.S747C 1 0.094339623 ENSG00000122008 chr5:75596933-75596933;C/G missense_variant False POLK@p.S745C 1 0.581818182 ENSG00000122008 chr5:75596927-75596927;C/G missense_variant False POLH@p.E699Q 1 0.137777778 ENSG00000170734 chr6:43614510-43614510;G/C missense_variant False POLG2@p.E408Q 1 0.131578947 ENSG00000256525 chr17:64480359-64480359;C/G missense_variant False POLG2@p.K164N 1 0.149606299 ENSG00000256525 chr17:64496477-64496477;C/G missense_variant False POLG2@p.L147F 1 0.215384615 ENSG00000256525 chr17:64496528-64496528;T/A missense_variant False POLG2@p.R8K 1 0.219512195 ENSG00000256525 chr17:64496946-64496946;C/T missense_variant False POLG@p.A1165V 1 0.511627907 ENSG00000140521 chr15:89317525-89317525;G/A missense_variant False POLG@p.D830Y 1 0.142857143 ENSG00000140521 chr15:89321846-89321846;C/A missense_variant False POLG@p.E181K 1 0.307692308 ENSG00000140521 chr15:89333214-89333214;C/T missense_variant False POLG@p.E833K 1 0.28 ENSG00000140521 chr15:89321837-89321837;C/T missense_variant False POLG@p.G763E 1 0.327586207 ENSG00000140521 chr15:89322880-89322880;C/T missense_variant False POLG@p.R288H 1 0.551724138 ENSG00000140521 chr15:89329103-89329103;C/T missense_variant False PTHLH@p.S82C 1 0.411764706 ENSG00000087494 chr12:27963627-27963627;G/C missense_variant False POLG@p.W441S 1 0.44 ENSG00000140521 chr15:89327278-89327278;C/G missense_variant False POLH@p.D398Y 1 0.294117647 ENSG00000170734 chr6:43610671-43610671;G/T missense_variant False POLH@p.E159Q 1 0.085714286 ENSG00000170734 chr6:43587474-43587474;G/C missense_variant False POLH@p.G374E 1 0.15 ENSG00000170734 chr6:43610600-43610600;G/A missense_variant False POLK@p.S696Y 1 0.392857143 ENSG00000122008 chr5:75596780-75596780;C/A missense_variant False POLH@p.K168* 1 0.357142857 ENSG00000170734 chr6:43597705-43597745;GAAAACAAGGCTTATTTCAATGGCTCGATTCTCTTCAGATT/- frameshift_variant False POLH@p.M509I 1 0.223880597 ENSG00000170734 chr6:43613942-43613942;G/C missense_variant False POLH@p.S213L 1 0.402777778 ENSG00000170734 chr6:43597843-43597843;C/T missense_variant False POLI@p.E162Q 1 0.454545455 ENSG00000101751 chr18:54277780-54277780;G/C missense_variant False POLI@p.E249K 1 0.20754717 ENSG00000101751 chr18:54280852-54280852;G/A missense_variant False POLI@p.K729N 1 0.410958904 ENSG00000101751 chr18:54294431-54294431;G/T missense_variant False POLK@p.E272K 1 0.363636364 ENSG00000122008 chr5:75581328-75581328;G/A missense_variant False POLK@p.E560K 1 0.520833333 ENSG00000122008 chr5:75596371-75596371;G/A missense_variant False POLK@p.E94K 1 0.25 ENSG00000122008 chr5:75569364-75569364;G/A missense_variant False POLK@p.F567L 1 0.56 ENSG00000122008 chr5:75596394-75596394;C/G missense_variant False POLK@p.I371T 1 0.410714286 ENSG00000122008 chr5:75584812-75584812;T/C missense_variant False POLK@p.K158N 1 0.246376812 ENSG00000122008 chr5:75573803-75573803;G/C missense_variant False POLK@p.M133I 1 0.360655738 ENSG00000122008 chr5:75569483-75569483;G/C missense_variant False POLK@p.P250Q 1 0.393442623 ENSG00000122008 chr5:75581263-75581263;C/A missense_variant False POLQ@p.Y758H 1 0.636363636 ENSG00000051341 chr3:121496814-121496814;A/G missense_variant False POLR1A@p.D1691N 1 0.084337349 ENSG00000068654 chr2:86027515-86027515;C/T missense_variant False POLR2F@p.E20K 1 0.148148148 ENSG00000100142 chr22:37956810-37956810;G/A missense_variant False POLR2A@p.E818Q 1 0.540540541 ENSG00000181222 chr17:7502002-7502002;G/C missense_variant False POLR2A@p.K940N 1 0.852941176 ENSG00000181222 chr17:7503184-7503184;G/C missense_variant False POLR2A@p.I1961M 1 0.342857143 ENSG00000181222 chr17:7514149-7514149;C/G missense_variant False POLR2A@p.G773E 1 0.582089552 ENSG00000181222 chr17:7501698-7501698;G/A missense_variant False POLR2A@p.G348V 1 0.088607595 ENSG00000181222 chr17:7497711-7497711;G/T missense_variant False POLR2A@p.F23L 1 0.6 ENSG00000181222 chr17:7484833-7484833;C/G missense_variant False POLR2A@p.F1041L 1 0.135135135 ENSG00000181222 chr17:7503674-7503674;C/G missense_variant False POLR2A@p.E724K 1 0.075471698 ENSG00000181222 chr17:7501550-7501550;G/A missense_variant False POLR1A@p.D403N 1 0.263888889 ENSG00000068654 chr2:86078164-86078164;C/T missense_variant False POLR2A@p.E1274Q 1 0.261904762 ENSG00000181222 chr17:7511221-7511221;G/C missense_variant False POLR2A@p.E1188K 1 0.47826087 ENSG00000181222 chr17:7509040-7509040;G/A missense_variant False POLR2A@p.D552N 1 0.441860465 ENSG00000181222 chr17:7499474-7499474;G/A missense_variant False POLR2A@p.D1223N 1 0.615384615 ENSG00000181222 chr17:7509145-7509145;G/A missense_variant False POLR1G@p.S163L 1 0.714285714 ENSG00000117877 chr19:45408456-45408456;C/T missense_variant False POLR1G@p.S13F 1 0.1 ENSG00000117877 chr19:45407109-45407109;C/T missense_variant False POLR2A@p.Q403E 1 0.627659574 ENSG00000181222 chr17:7498082-7498082;C/G missense_variant False POLR2B@p.E879K 1 0.264150943 ENSG00000047315 chr4:57023449-57023449;G/A missense_variant False POLR2B@p.L853F 1 0.188679245 ENSG00000047315 chr4:57023373-57023373;G/C missense_variant False POLR2B@p.P63S 1 0.234042553 ENSG00000047315 chr4:56990842-56990842;C/T missense_variant False POLR2B@p.P969S 1 0.262135922 ENSG00000047315 chr4:57024053-57024053;C/T missense_variant False POLR2B@p.R371W 1 0.548387097 ENSG00000047315 chr4:57005613-57005613;A/T missense_variant False POLR2B@p.R483H 1 0.191489362 ENSG00000047315 chr4:57010404-57010404;G/A missense_variant False POLR2B@p.S106L 1 0.25 ENSG00000047315 chr4:56994477-56994477;C/T missense_variant False POLR2B@p.Y1018C 1 0.25 ENSG00000047315 chr4:57024974-57024974;A/G missense_variant False POLR2C@p.A4S 1 0.36 ENSG00000102978 chr16:57462734-57462734;G/T missense_variant False POLR2C@p.N275H 1 0.532608696 ENSG00000102978 chr16:57471114-57471114;A/C missense_variant False POLR2C@p.Y208H 1 0.423076923 ENSG00000102978 chr16:57470293-57470293;T/C missense_variant False POLR2D@p.Y142C 1 0.326530612 ENSG00000144231 chr2:127848111-127848111;T/C missense_variant False POLR2E@p.D57N 1 0.238095238 ENSG00000099817 chr19:1093967-1093967;C/T missense_variant False POLR2E@p.R172S 1 0.206896552 ENSG00000099817 chr19:1089935-1089935;C/A missense_variant False POLR2F@p.E157Q 1 0.22519084 ENSG00000100142 chr22:38041084-38041084;G/C missense_variant False POLR2F@p.E18Q 1 0.256410256 ENSG00000100142 chr22:37956804-37956804;G/C missense_variant False POLR1G@p.K328N 1 0.283333333 ENSG00000117877 chr19:45408952-45408952;G/C missense_variant False POLR1G@p.E429D 1 0.6875 ENSG00000117877 chr19:45409255-45409255;G/C missense_variant False POLR1F@p.S46L 1 0.260869565 ENSG00000105849 chr7:19708880-19708880;G/A missense_variant False POLR1B@p.G602Afs*17 1 0.206896552 ENSG00000125630 chr2:112568024-112568025;-/C frameshift_variant False POLR1A@p.E1406K 1 0.387096774 ENSG00000068654 chr2:86032328-86032328;C/T missense_variant False POLR1A@p.E1406Q 1 0.244444444 ENSG00000068654 chr2:86032328-86032328;C/G missense_variant False POLR1A@p.E1438K 1 0.468085106 ENSG00000068654 chr2:86031596-86031596;C/T missense_variant False POLR1A@p.E156K 1 0.544303797 ENSG00000068654 chr2:86089896-86089896;C/T missense_variant False POLR1A@p.E1573K 1 0.186440678 ENSG00000068654 chr2:86030258-86030258;C/T missense_variant False POLR1A@p.E24K 1 0.333333333 ENSG00000068654 chr2:86105707-86105707;C/T missense_variant False POLR1A@p.E602K 1 0.111111111 ENSG00000068654 chr2:86070080-86070080;C/T missense_variant False POLR1A@p.M109V 1 0.186915888 ENSG00000068654 chr2:86098718-86098718;T/C missense_variant False POLR1A@p.M1672I 1 0.1 ENSG00000068654 chr2:86027931-86027931;C/T missense_variant False POLR1A@p.M896I 1 0.224719101 ENSG00000068654 chr2:86047210-86047210;C/A missense_variant False POLR1A@p.R1086K 1 0.209302326 ENSG00000068654 chr2:86043074-86043074;C/T missense_variant False POLR1B@p.A741V 1 0.256756757 ENSG00000125630 chr2:112572709-112572709;C/T missense_variant False POLR1B@p.E931Q 1 0.266666667 ENSG00000125630 chr2:112575112-112575112;G/C missense_variant False POLR1B@p.F950L 1 0.107142857 ENSG00000125630 chr2:112575171-112575171;C/A missense_variant False POLR1B@p.P949Lfs*17 1 0.209677419 ENSG00000125630 chr2:112575166-112575167;-/TGTA frameshift_variant False POLR1F@p.D298N 1 0.492924528 ENSG00000105849 chr7:19698441-19698441;C/T missense_variant False POLR1C@p.E134Q 1 0.260869565 ENSG00000171453 chr6:43520083-43520083;G/C missense_variant False POLR1C@p.E161K 1 0.410071942 ENSG00000171453 chr6:43520164-43520164;G/A missense_variant False POLR1C@p.E207K 1 0.183006536 ENSG00000171453 chr6:43520391-43520391;G/A missense_variant False POLR1C@p.E291D 1 0.231578947 ENSG00000171453 chr6:43520999-43520999;G/C missense_variant False POLR1C@p.K294N 1 0.2 ENSG00000171453 chr6:43521008-43521008;G/C missense_variant False POLR1D@p.C107Y 1 0.278481013 ENSG00000186184 chr13:27623168-27623168;G/A missense_variant False POLR1D@p.D48Y 1 0.179104478 ENSG00000186184 chr13:27622990-27622990;G/T missense_variant False POLR1D@p.E27K 1 0.113636364 ENSG00000186184 chr13:27648431-27648431;G/A missense_variant False POLR1D@p.R56P 1 0.243589744 ENSG00000186184 chr13:27623015-27623015;G/C missense_variant False POLR1E@p.D127Y 1 0.397435897 ENSG00000137054 chr9:37487875-37487875;G/T missense_variant False POLR1E@p.E320K 1 0.297619048 ENSG00000137054 chr9:37498110-37498110;G/A missense_variant False POLR1E@p.M431V 1 0.269230769 ENSG00000137054 chr9:37503047-37503047;A/G missense_variant False POLR1E@p.P293L 1 0.394736842 ENSG00000137054 chr9:37495926-37495926;C/T missense_variant False POLR1E@p.Q189E 1 0.390625 ENSG00000137054 chr9:37492692-37492692;C/G missense_variant False PLXND1@p.E1457D 1 0.552238806 ENSG00000004399 chr3:129565490-129565490;C/A missense_variant False PLXND1@p.E1149K 1 0.742857143 ENSG00000004399 chr3:129571195-129571195;C/T missense_variant False PLXNC1@p.V680M 1 0.15942029 ENSG00000136040 chr12:94237721-94237721;G/A missense_variant False PLEKHA5@p.D619H 1 0.085365854 ENSG00000052126 chr12:19320571-19320571;G/C missense_variant False PLEKHA5@p.R509C 1 0.270833333 ENSG00000052126 chr12:19283509-19283509;C/T missense_variant False PLEKHA5@p.P850S 1 0.18 ENSG00000052126 chr12:19353910-19353910;C/T missense_variant False PLEKHA5@p.H229Y 1 0.050505051 ENSG00000052126 chr12:19265824-19265824;C/T missense_variant False PLEKHA5@p.E1032Q 1 0.461538462 ENSG00000052126 chr12:19361690-19361690;G/C missense_variant False PLEKHA5@p.D728G 1 0.685714286 ENSG00000052126 chr12:19336558-19336558;A/G missense_variant False PLEKHA5@p.D723N 1 0.105263158 ENSG00000052126 chr12:19336542-19336542;G/A missense_variant False PLEKHA5@p.D593H 1 0.271028037 ENSG00000052126 chr12:19287488-19287488;G/C missense_variant False PLEKHA7@p.D628N 1 0.184210526 ENSG00000166689 chr11:16816249-16816249;C/T missense_variant False PLEKHA4@p.S220C 1 0.217391304 ENSG00000105559 chr19:48859502-48859502;G/C missense_variant False PLEKHA4@p.R403W 1 0.255813953 ENSG00000105559 chr19:48853801-48853801;G/A missense_variant False PLEKHA4@p.Q427L 1 0.571428571 ENSG00000105559 chr19:48853728-48853728;T/A missense_variant False PLEKHA4@p.P710A 1 0.125 ENSG00000105559 chr19:48837501-48837501;G/C missense_variant False PLEKHA4@p.M589I 1 0.210526316 ENSG00000105559 chr19:48841287-48841287;C/A missense_variant False PLEKHA4@p.H572Q 1 0.342857143 ENSG00000105559 chr19:48845397-48845397;G/C missense_variant False PLEKHA5@p.R622T 1 0.228395062 ENSG00000052126 chr12:19320581-19320581;G/C missense_variant False PLEKHA5@p.R884G 1 0.538461538 ENSG00000052126 chr12:19358237-19358237;A/G missense_variant False PLEKHA5@p.S111F 1 0.142857143 ENSG00000052126 chr12:19255065-19255065;C/T missense_variant False PLEKHA5@p.S607G 1 0.333333333 ENSG00000052126 chr12:19287530-19287530;A/G missense_variant False PLEKHA5@p.V344E 1 0.150837989 ENSG00000052126 chr12:19274719-19274719;T/A missense_variant False PLEKHA6@p.D872H 1 0.135135135 ENSG00000143850 chr1:204229074-204229074;C/G missense_variant False PLEKHA6@p.E182D 1 0.282608696 ENSG00000143850 chr1:204259719-204259719;C/G missense_variant False PLEKHA6@p.E224K 1 0.369230769 ENSG00000143850 chr1:204259595-204259595;C/T missense_variant False PLEKHA6@p.E224Q 1 0.256410256 ENSG00000143850 chr1:204259595-204259595;C/G missense_variant False PLEKHA6@p.E660D 1 0.178082192 ENSG00000143850 chr1:204245667-204245667;C/A missense_variant False PLEKHA6@p.G281R 1 0.328947368 ENSG00000143850 chr1:204259424-204259424;C/G missense_variant False PLEKHA6@p.G661W 1 0.183098592 ENSG00000143850 chr1:204245666-204245666;C/A missense_variant False PLEKHA6@p.H124Q 1 0.251428571 ENSG00000143850 chr1:204264951-204264951;G/T missense_variant False PLEKHA6@p.L939* 1 0.228070175 ENSG00000143850 chr1:204228798-204228798;G/- frameshift_variant False PLEKHA6@p.Q319K 1 0.225 ENSG00000143850 chr1:204259310-204259310;G/T missense_variant False PLEKHA6@p.R221T 1 0.194805195 ENSG00000143850 chr1:204259603-204259603;C/G missense_variant False PLEKHA6@p.S476L 1 0.375 ENSG00000143850 chr1:204257450-204257450;G/A missense_variant False PLEKHA4@p.G178S 1 0.479166667 ENSG00000105559 chr19:48859629-48859629;C/T missense_variant False PLEKHA4@p.E683Q 1 0.133333333 ENSG00000105559 chr19:48838047-48838047;C/G missense_variant False PLEKHA4@p.E188K 1 0.159090909 ENSG00000105559 chr19:48859599-48859599;C/T missense_variant False PLEC@p.S4272Y 1 0.32 ENSG00000178209 chr8:143917417-143917417;G/T missense_variant False PLEC@p.E3931K 1 0.555555556 ENSG00000178209 chr8:143918441-143918441;C/T missense_variant False PLEC@p.E4212Q 1 0.108843537 ENSG00000178209 chr8:143917598-143917598;C/G missense_variant False PLEC@p.K2409N 1 0.09375 ENSG00000178209 chr8:143923113-143923113;C/G missense_variant False PLEC@p.K298N 1 0.583333333 ENSG00000178209 chr8:143935967-143935967;C/G missense_variant False PLEC@p.L1259V 1 0.5 ENSG00000178209 chr8:143927889-143927889;G/C missense_variant False PLEC@p.L3157F 1 0.209302326 ENSG00000178209 chr8:143920763-143920763;G/A missense_variant False PLEC@p.L3478V 1 0.294117647 ENSG00000178209 chr8:143919800-143919800;G/C missense_variant False PLEC@p.Q3266R 1 0.1875 ENSG00000178209 chr8:143920435-143920435;T/C missense_variant False PLEC@p.Q3962H 1 0.375 ENSG00000178209 chr8:143918346-143918346;C/G missense_variant False PLEC@p.Q4509Rfs*3 1 0.132352941 ENSG00000178209 chr8:143916707-143916707;G/- frameshift_variant False PLEC@p.R179H 1 0.384615385 ENSG00000178209 chr8:143938680-143938680;C/T missense_variant False PLEC@p.R3838S 1 0.206896552 ENSG00000178209 chr8:143918718-143918718;C/G missense_variant False PLEC@p.S1181F 1 0.333333333 ENSG00000178209 chr8:143929232-143929232;G/A missense_variant False PLEC@p.S2634F 1 0.295774648 ENSG00000178209 chr8:143922331-143922331;G/A missense_variant False PLEC@p.S4365F 1 0.155555556 ENSG00000178209 chr8:143917138-143917138;G/A missense_variant False PLEKHA4@p.E155K 1 0.191176471 ENSG00000105559 chr19:48860363-48860363;C/T missense_variant False PLEC@p.S4374L 1 0.3 ENSG00000178209 chr8:143917111-143917111;G/A missense_variant False PLEC@p.V3780L 1 0.097402597 ENSG00000178209 chr8:143918894-143918894;C/A missense_variant False PLEK@p.E146K 1 0.170212766 ENSG00000115956 chr2:68382597-68382597;G/A missense_variant False PLEK@p.E34Q 1 0.528846154 ENSG00000115956 chr2:68380385-68380385;G/C missense_variant False PLEK@p.Q82R 1 0.420560748 ENSG00000115956 chr2:68380769-68380769;A/G missense_variant False PLEK@p.R111S 1 0.156097561 ENSG00000115956 chr2:68380857-68380857;G/T missense_variant False PLEKHA1@p.I193M 1 0.941176471 ENSG00000107679 chr10:122415969-122415969;C/G missense_variant False PLEKHA2@p.F219L 1 0.277777778 ENSG00000169499 chr8:38952659-38952659;C/G missense_variant False PLEKHA2@p.R217C 1 0.45 ENSG00000169499 chr8:38952651-38952651;C/T missense_variant False PLEKHA3@p.E108K 1 0.228571429 ENSG00000116095 chr2:178493861-178493861;G/A missense_variant False PLEKHA3@p.E184Q 1 0.129943503 ENSG00000116095 chr2:178495595-178495595;G/C missense_variant False PLEKHA3@p.L295F 1 0.156626506 ENSG00000116095 chr2:178503867-178503867;C/T missense_variant False PLEKHA3@p.S230F 1 0.107526882 ENSG00000116095 chr2:178501090-178501090;C/T missense_variant False PLEKHA4@p.D375H 1 0.14893617 ENSG00000105559 chr19:48854060-48854060;C/G missense_variant False PLEKHA7@p.D357N 1 0.236363636 ENSG00000166689 chr11:16826394-16826394;C/T missense_variant False PLEKHA7@p.E688Q 1 0.316239316 ENSG00000166689 chr11:16803241-16803241;C/G missense_variant False PLEC@p.E3665K 1 0.147540984 ENSG00000178209 chr8:143919239-143919239;C/T missense_variant False PLEKHG4@p.R680W 1 0.121495327 ENSG00000196155 chr16:67285058-67285058;C/T missense_variant False PLEKHG4B@p.H718D 1 0.446666667 ENSG00000153404 chr5:163292-163292;C/G missense_variant False PLEKHG4B@p.E794K 1 0.444444444 ENSG00000153404 chr5:163520-163520;G/A missense_variant False PLEKHG4B@p.D1234N 1 0.132075472 ENSG00000153404 chr5:182207-182207;G/A missense_variant False PLEKHG4B@p.A1086P 1 0.428571429 ENSG00000153404 chr5:174020-174020;G/C missense_variant False PLEKHG4@p.S261F 1 0.11 ENSG00000196155 chr16:67281153-67281153;C/T missense_variant False PLEKHG4@p.S1096W 1 0.057507987 ENSG00000196155 chr16:67288233-67288233;C/G missense_variant False PLEKHG4@p.R458W 1 0.471698113 ENSG00000196155 chr16:67282621-67282621;C/T missense_variant False PLEKHA7@p.F532L 1 0.307692308 ENSG00000166689 chr11:16817070-16817070;G/C missense_variant False PLEKHG4@p.P721S 1 0.269230769 ENSG00000196155 chr16:67285181-67285181;C/T missense_variant False PLEKHG4@p.L682_E688del 1 0.083333333 ENSG00000196155 chr16:67285064-67285084;CTGGGGCAGAGTCTCAGTGAA/- inframe_deletion False PLEKHG4@p.E619K 1 0.25 ENSG00000196155 chr16:67284875-67284875;G/A missense_variant False PLEKHG4@p.E407K 1 0.166666667 ENSG00000196155 chr16:67282315-67282315;G/A missense_variant False PLEKHG4@p.E242K 1 0.166666667 ENSG00000196155 chr16:67281095-67281095;G/A missense_variant False PLEKHG4@p.E165Q 1 0.152439024 ENSG00000196155 chr16:67280537-67280537;G/C missense_variant False PLEKHG4B@p.L1066F 1 0.540540541 ENSG00000153404 chr5:173962-173962;G/C missense_variant False PLEKHG4B@p.P400R 1 0.065217391 ENSG00000153404 chr5:156129-156129;C/G missense_variant False PLEKHG4B@p.R1114K 1 0.166666667 ENSG00000153404 chr5:181520-181520;G/A missense_variant False PLEKHG4B@p.R845Q 1 0.294736842 ENSG00000153404 chr5:169465-169465;G/A missense_variant False PLEKHG4B@p.V504M 1 0.1875 ENSG00000153404 chr5:161873-161873;G/A missense_variant False PLEKHG5@p.E127Q 1 0.252173913 ENSG00000171680 chr1:6475081-6475081;C/G missense_variant False PLEKHG5@p.E191Q 1 0.210526316 ENSG00000171680 chr1:6474144-6474144;C/G missense_variant False PLEKHG5@p.E308Q 1 0.153846154 ENSG00000171680 chr1:6473159-6473159;C/G missense_variant False PLEKHG5@p.E339Q 1 0.177777778 ENSG00000171680 chr1:6473066-6473066;C/G missense_variant False PLEKHG5@p.R710P 1 0.256157635 ENSG00000171680 chr1:6469366-6469366;C/G missense_variant False PLEKHG6@p.D575Y 1 0.25862069 ENSG00000008323 chr12:6327306-6327306;G/T missense_variant False PLEKHG6@p.E671K 1 0.238095238 ENSG00000008323 chr12:6327594-6327594;G/A missense_variant False PLEKHG6@p.L305V 1 0.137254902 ENSG00000008323 chr12:6317592-6317592;T/G missense_variant False PLEKHG6@p.M733V 1 0.482758621 ENSG00000008323 chr12:6327780-6327780;A/G missense_variant False PLEKHG6@p.S63F 1 0.307692308 ENSG00000008323 chr12:6313678-6313678;C/T missense_variant False PLEKHG6@p.T140Ifs*42 1 0.136363636 ENSG00000008323 chr12:6315129-6315139;CCATCGAGAAG/- frameshift_variant False PLEKHG6@p.T574Rfs*2 1 0.284883721 ENSG00000008323 chr12:6327301-6327302;AC/- frameshift_variant False PLEKHG3@p.S21C 1 0.25 ENSG00000126822 chr14:64727693-64727693;C/G missense_variant False PLEKHG3@p.R400_E404del 1 0.418604651 ENSG00000126822 chr14:64736872-64736886;CAGGCAACTCAACGA/- inframe_deletion False PLEKHG3@p.E380K 1 0.888888889 ENSG00000126822 chr14:64732862-64732862;G/A missense_variant False PLEKHB2@p.R18C 1 0.18018018 ENSG00000115762 chr2:131125767-131125767;C/T missense_variant False PLEKHA7@p.F802S 1 0.20212766 ENSG00000166689 chr11:16800978-16800978;A/G missense_variant False PLEKHA7@p.G342R 1 0.470588235 ENSG00000166689 chr11:16826439-16826439;C/T missense_variant False PLEKHA7@p.G610E 1 0.910714286 ENSG00000166689 chr11:16816837-16816837;C/T missense_variant False PLEKHA7@p.Q251E 1 0.295454545 ENSG00000166689 chr11:16841668-16841668;G/C missense_variant False PLEKHA7@p.S571L 1 0.553191489 ENSG00000166689 chr11:16816954-16816954;G/A missense_variant False PLEKHA7@p.S608* 1 0.176470588 ENSG00000166689 chr11:16816824-16816843;CCTTGGAGAATCCCCCAGCG/- frameshift_variant False PLEKHA7@p.S612F 1 0.207692308 ENSG00000166689 chr11:16816831-16816831;G/A missense_variant False PLEKHA7@p.T1101M 1 0.230769231 ENSG00000166689 chr11:16789151-16789151;G/A missense_variant False PLEKHA7@p.T80R 1 0.166666667 ENSG00000166689 chr11:16871165-16871165;G/C missense_variant False PLEKHA8@p.D132H 1 0.426136364 ENSG00000106086 chr7:30047912-30047912;G/C missense_variant False PLEKHA8@p.D292N 1 0.213675214 ENSG00000106086 chr7:30054786-30054786;G/A missense_variant False PLEKHA8@p.S255L 1 0.326530612 ENSG00000106086 chr7:30052834-30052834;C/T missense_variant False PLEKHB1@p.S235L 1 0.308056872 ENSG00000021300 chr11:73661574-73661574;C/T missense_variant False PLEKHB2@p.D106N 1 0.156862745 ENSG00000115762 chr2:131130743-131130743;G/A missense_variant False PLEKHF2@p.C129R 1 0.502617801 ENSG00000175895 chr8:95154429-95154429;T/C missense_variant False PLEKHG2@p.S538F 1 0.464285714 ENSG00000090924 chr19:39422224-39422224;C/T missense_variant False PLEKHF2@p.E19D 1 0.059322034 ENSG00000175895 chr8:95154101-95154101;A/C missense_variant False PLEKHF2@p.L193F 1 0.33908046 ENSG00000175895 chr8:95154621-95154621;C/T missense_variant False PLEKHG1@p.E594K 1 0.058139535 ENSG00000120278 chr6:150830891-150830891;G/A missense_variant False PLEKHG1@p.H824D 1 0.446254072 ENSG00000120278 chr6:150831581-150831581;C/G missense_variant False PLEKHG1@p.L122V 1 0.2109375 ENSG00000120278 chr6:150734045-150734045;C/G missense_variant False PLEKHG1@p.R405C 1 0.326086957 ENSG00000120278 chr6:150809669-150809669;C/T missense_variant False PLEKHG2@p.E1216Q 1 0.037190083 ENSG00000090924 chr19:39424779-39424779;G/C missense_variant False PLEKHG2@p.E598K 1 0.315789474 ENSG00000090924 chr19:39422846-39422846;G/A missense_variant False PLEKHG2@p.E835K 1 0.333333333 ENSG00000090924 chr19:39423557-39423557;G/A missense_variant False PLEKHG2@p.E889G 1 0.333333333 ENSG00000090924 chr19:39423799-39423799;A/G missense_variant False PLEKHG2@p.P415R 1 0.135135135 ENSG00000090924 chr19:39418984-39418984;C/G missense_variant False PLEKHG2@p.Q1105H 1 0.367816092 ENSG00000090924 chr19:39424448-39424448;G/C missense_variant False PLEKHG2@p.R408C 1 0.303630363 ENSG00000090924 chr19:39418962-39418962;C/T missense_variant False PLEKHG2@p.R607Q 1 0.315068493 ENSG00000090924 chr19:39422874-39422874;G/A missense_variant False PLEC@p.E3767Q 1 0.170886076 ENSG00000178209 chr8:143918933-143918933;C/G missense_variant False PLEC@p.E3634D 1 0.183206107 ENSG00000178209 chr8:143919330-143919330;C/G missense_variant False PLEKHG7@p.D38H 1 0.252252252 ENSG00000187510 chr12:92706743-92706743;G/C missense_variant False PLCG1@p.R694Q 1 0.25 ENSG00000124181 chr20:41166556-41166556;G/A missense_variant False PLCH1@p.E1342D 1 0.422535211 ENSG00000114805 chr3:155482024-155482024;C/A missense_variant False PLCH1@p.D1540Y 1 0.359223301 ENSG00000114805 chr3:155481432-155481432;C/A missense_variant False PLCG2@p.V105I 1 0.22754491 ENSG00000197943 chr16:81854563-81854563;G/A missense_variant False PLCG2@p.I1112M 1 0.387387387 ENSG00000197943 chr16:81939914-81939914;C/G missense_variant False PLCG2@p.H641D 1 0.194174757 ENSG00000197943 chr16:81910707-81910707;C/G missense_variant False PLCG2@p.E836Q 1 0.102272727 ENSG00000197943 chr16:81927170-81927170;G/C missense_variant False PLCG1@p.K387N 1 0.462809917 ENSG00000124181 chr20:41164145-41164145;G/T missense_variant False PLCL1@p.G370V 1 0.170731707 ENSG00000115896 chr2:198084626-198084626;G/T missense_variant False PLCG1@p.K1127N 1 0.444444444 ENSG00000124181 chr20:41173521-41173521;G/C missense_variant False PLCG1@p.F782L 1 0.125 ENSG00000124181 chr20:41167896-41167896;C/G missense_variant False PLCG1@p.F429L 1 0.151898734 ENSG00000124181 chr20:41165002-41165002;C/G missense_variant False PLCG1@p.E589K 1 0.6875 ENSG00000124181 chr20:41165792-41165792;G/A missense_variant False PLCG1@p.E1258K 1 0.043478261 ENSG00000124181 chr20:41174253-41174253;G/A missense_variant False PLCG1@p.E1153K 1 0.310344828 ENSG00000124181 chr20:41173714-41173714;G/A missense_variant False PLCH1@p.E1501Q 1 0.434782609 ENSG00000114805 chr3:155481549-155481549;C/G missense_variant False PLCH1@p.E948V 1 0.244680851 ENSG00000114805 chr3:155485511-155485511;T/A missense_variant False PLCH1@p.G451R 1 0.108597285 ENSG00000114805 chr3:155523980-155523980;C/T missense_variant False PLCH1@p.K259N 1 0.204301075 ENSG00000114805 chr3:155568283-155568283;C/G missense_variant False PLCH1@p.L1481F 1 0.104166667 ENSG00000114805 chr3:155481607-155481607;C/G missense_variant False PLCH1@p.Q1394E 1 0.152173913 ENSG00000114805 chr3:155481870-155481870;G/C missense_variant False PLCH1@p.S1318T 1 0.137254902 ENSG00000114805 chr3:155482097-155482097;C/G missense_variant False PLCH1@p.S1433C 1 0.363636364 ENSG00000114805 chr3:155481752-155481752;G/C missense_variant False PLCH1@p.T482S 1 0.2375 ENSG00000114805 chr3:155514875-155514875;T/A missense_variant False PLCH2@p.D182N 1 0.232876712 ENSG00000149527 chr1:2480211-2480211;G/A missense_variant False PLCH2@p.E51K 1 0.214285714 ENSG00000149527 chr1:2478502-2478502;G/A missense_variant False PLCH2@p.G52R 1 0.130434783 ENSG00000149527 chr1:2478505-2478505;G/A missense_variant False PLCH2@p.Q460H 1 0.142857143 ENSG00000149527 chr1:2489351-2489351;G/T missense_variant False PLCH2@p.R166H 1 0.131147541 ENSG00000149527 chr1:2479959-2479959;G/A missense_variant False PLCH2@p.S1147C 1 0.153846154 ENSG00000149527 chr1:2504402-2504402;C/G missense_variant False PLCH2@p.S447L 1 0.295774648 ENSG00000149527 chr1:2489311-2489311;C/T missense_variant False PLCH2@p.T852M 1 0.22 ENSG00000149527 chr1:2499204-2499204;C/T missense_variant False PLCG1@p.D1234H 1 0.117021277 ENSG00000124181 chr20:41174181-41174181;G/C missense_variant False PLCG1@p.A913T 1 0.191082803 ENSG00000124181 chr20:41170198-41170198;G/A missense_variant False PLCE1@p.V989M 1 0.414285714 ENSG00000138193 chr10:94246490-94246490;G/A missense_variant False PLCD1@p.Y42Sfs*68 1 0.307692308 ENSG00000187091 chr3:38020262-38020263;-/AG frameshift_variant False PLCB3@p.T1122R 1 0.114942529 ENSG00000149782 chr11:64266503-64266503;C/G missense_variant False PLCB4@p.A657V 1 0.265625 ENSG00000101333 chr20:9411043-9411043;C/T missense_variant False PLCB4@p.E117K 1 0.358490566 ENSG00000101333 chr20:9339017-9339017;G/A missense_variant False PLCB4@p.E27Q 1 0.24 ENSG00000101333 chr20:9307893-9307893;G/C missense_variant False PLCB4@p.E482K 1 0.510869565 ENSG00000101333 chr20:9395552-9395552;G/A missense_variant False PLCB4@p.E53K 1 0.450980392 ENSG00000101333 chr20:9337198-9337198;G/A missense_variant False PLCB4@p.E755Q 1 0.321428571 ENSG00000101333 chr20:9421441-9421441;G/C missense_variant False PLCB4@p.I1097M 1 0.05 ENSG00000101333 chr20:9468649-9468649;C/G missense_variant False PLCB4@p.P14S 1 0.294117647 ENSG00000101333 chr20:9307854-9307854;C/T missense_variant False PLCB4@p.Q1159H 1 0.285714286 ENSG00000101333 chr20:9478938-9478938;G/C missense_variant False PLCB4@p.T686I 1 0.073654391 ENSG00000101333 chr20:9419848-9419848;C/T missense_variant False PLCD1@p.R89L 1 0.5 ENSG00000187091 chr3:38016653-38016653;C/A missense_variant False PLCD1@p.S281W 1 0.368421053 ENSG00000187091 chr3:38010511-38010511;G/C missense_variant False PLCD1@p.V565E 1 0.125 ENSG00000187091 chr3:38009071-38009071;A/T missense_variant False PLCD3@p.A292T 1 0.44 ENSG00000161714 chr17:45118854-45118854;C/T missense_variant False PLCE1@p.R46Q 1 0.393442623 ENSG00000138193 chr10:94031183-94031183;G/A missense_variant False PLCD3@p.D409N 1 0.170212766 ENSG00000161714 chr17:45118029-45118029;C/T missense_variant False PLCD3@p.F227L 1 0.52 ENSG00000161714 chr17:45120328-45120328;G/C missense_variant False PLCD3@p.F650L 1 0.272727273 ENSG00000161714 chr17:45113486-45113486;A/G missense_variant False PLCD3@p.S349C 1 0.409090909 ENSG00000161714 chr17:45118360-45118360;G/C missense_variant False PLCD4@p.D218N 1 0.866666667 ENSG00000115556 chr2:218622758-218622758;G/A missense_variant False PLCD4@p.E538K 1 0.583333333 ENSG00000115556 chr2:218634110-218634110;G/A missense_variant False PLCD4@p.Q120H 1 0.238095238 ENSG00000115556 chr2:218618757-218618757;G/T missense_variant False PLCD4@p.R690Q 1 0.485788114 ENSG00000115556 chr2:218636279-218636279;G/A missense_variant False PLCE1@p.D1631N 1 0.362318841 ENSG00000138193 chr10:94283885-94283885;G/A missense_variant False PLCE1@p.D819N 1 0.247619048 ENSG00000138193 chr10:94245980-94245980;G/A missense_variant False PLCE1@p.E1831K 1 0.34439834 ENSG00000138193 chr10:94304514-94304514;G/A missense_variant False PLCE1@p.P1059R 1 0.237288136 ENSG00000138193 chr10:94252395-94252395;C/G missense_variant False PLCE1@p.Q2081H 1 0.194029851 ENSG00000138193 chr10:94316657-94316657;G/C missense_variant False PLCE1@p.R1861T 1 0.1 ENSG00000138193 chr10:94304605-94304605;G/C missense_variant False PLCL1@p.E807K 1 0.327586207 ENSG00000115896 chr2:198085936-198085936;G/A missense_variant False PLCL1@p.H194Q 1 0.180555556 ENSG00000115896 chr2:198084099-198084099;C/A missense_variant False PLEC@p.E2845D 1 0.35 ENSG00000178209 chr8:143921697-143921697;C/G missense_variant False PLD1@p.Y966C 1 0.41221374 ENSG00000075651 chr3:171605402-171605402;T/C missense_variant False PLD5@p.K305Nfs*22 1 0.302325581 ENSG00000180287 chr1:242124489-242124489;G/- frameshift_variant False PLD5@p.G234C 1 0.380952381 ENSG00000180287 chr1:242220023-242220023;C/A missense_variant False PLD3@p.E440K 1 0.170731707 ENSG00000105223 chr19:40378018-40378018;G/A missense_variant False PLD3@p.A383S 1 0.172839506 ENSG00000105223 chr19:40376736-40376736;G/T missense_variant False PLD3@p.A376P 1 0.436363636 ENSG00000105223 chr19:40376715-40376715;G/C missense_variant False PLD2@p.L875V 1 0.425925926 ENSG00000129219 chr17:4822685-4822685;C/G missense_variant False PLD1@p.Q733E 1 0.1 ENSG00000075651 chr3:171674532-171674532;G/C missense_variant False PLCL1@p.I1031V 1 0.321428571 ENSG00000115896 chr2:198103922-198103922;A/G missense_variant False PLD1@p.L438F 1 0.243902439 ENSG00000075651 chr3:171692356-171692356;C/A missense_variant False PLD1@p.I893M 1 0.128571429 ENSG00000075651 chr3:171620435-171620435;G/C missense_variant False PLD1@p.I272T 1 0.53030303 ENSG00000075651 chr3:171713989-171713989;A/G missense_variant False PLD1@p.I208T 1 0.355932203 ENSG00000075651 chr3:171726060-171726060;A/G missense_variant False PLD1@p.H598Mfs*3 1 0.238095238 ENSG00000075651 chr3:171686760-171686760;G/- frameshift_variant False PLD1@p.D799N 1 0.153439153 ENSG00000075651 chr3:171659247-171659247;C/T missense_variant False PLD5@p.R168C 1 0.428571429 ENSG00000180287 chr1:242265442-242265442;G/A missense_variant False PLD5@p.R374Q 1 0.397959184 ENSG00000180287 chr1:242107789-242107789;C/T missense_variant False PLD5@p.S178L 1 0.308823529 ENSG00000180287 chr1:242265411-242265411;G/A missense_variant False PLD6@p.E201Q 1 0.489361702 ENSG00000179598 chr17:17202925-17202925;C/G missense_variant False PLEC@p.A1513S 1 0.142857143 ENSG00000178209 chr8:143925803-143925803;C/A missense_variant False PLEC@p.A1544T 1 0.384615385 ENSG00000178209 chr8:143925710-143925710;C/T missense_variant False PLEC@p.A3072E 1 0.294339623 ENSG00000178209 chr8:143921017-143921017;G/T missense_variant False PLEC@p.E1057Q 1 0.285714286 ENSG00000178209 chr8:143929811-143929811;C/G missense_variant False PLEC@p.E1137K 1 0.32 ENSG00000178209 chr8:143929497-143929497;C/T missense_variant False PLEC@p.E1609K 1 0.162790698 ENSG00000178209 chr8:143925515-143925515;C/T missense_variant False PLEC@p.E2061K 1 0.101851852 ENSG00000178209 chr8:143924159-143924159;C/T missense_variant False PLEC@p.E2063K 1 0.392857143 ENSG00000178209 chr8:143924153-143924153;C/T missense_variant False PLEC@p.E2252K 1 0.479166667 ENSG00000178209 chr8:143923586-143923586;C/T missense_variant False PLEC@p.E2446K 1 0.666666667 ENSG00000178209 chr8:143923004-143923004;C/T missense_variant False PLEC@p.E2458K 1 0.222222222 ENSG00000178209 chr8:143922968-143922968;C/T missense_variant False PLEC@p.E2595D 1 0.344827586 ENSG00000178209 chr8:143922555-143922555;C/G missense_variant False PLEC@p.E2624D 1 0.276923077 ENSG00000178209 chr8:143922360-143922360;C/G missense_variant False PLCZ1@p.V326I 1 0.567010309 ENSG00000139151 chr12:18701542-18701542;C/T missense_variant False PLCZ1@p.Q559E 1 0.078125 ENSG00000139151 chr12:18684196-18684196;G/C missense_variant False PLCZ1@p.K336N 1 0.545454545 ENSG00000139151 chr12:18701510-18701510;C/A missense_variant False PLCL2@p.K355E 1 0.523809524 ENSG00000154822 chr3:17010409-17010409;A/G missense_variant False PLCL1@p.M1052I 1 0.150684932 ENSG00000115896 chr2:198146830-198146830;G/T missense_variant False PLCL1@p.N177I 1 0.068322981 ENSG00000115896 chr2:198084047-198084047;A/T missense_variant False PLCL1@p.R1078H 1 0.125 ENSG00000115896 chr2:198146907-198146907;G/A missense_variant False PLCL1@p.R859H 1 0.178571429 ENSG00000115896 chr2:198086093-198086093;G/A missense_variant False PLCL1@p.S101L 1 0.107692308 ENSG00000115896 chr2:198083819-198083819;C/T missense_variant False PLCL1@p.S149L 1 0.333333333 ENSG00000115896 chr2:198083963-198083963;C/T missense_variant False PLCL1@p.S529L 1 0.1875 ENSG00000115896 chr2:198085103-198085103;C/T missense_variant False PLCL1@p.S910F 1 0.230593607 ENSG00000115896 chr2:198088871-198088871;C/T missense_variant False PLCL1@p.T346I 1 0.943661972 ENSG00000115896 chr2:198084554-198084554;C/T missense_variant False PLCL2@p.D585N 1 0.111111111 ENSG00000154822 chr3:17011099-17011099;G/A missense_variant False PLCL2@p.D834N 1 0.166666667 ENSG00000154822 chr3:17011846-17011846;G/A missense_variant False PLCL2@p.E867G 1 0.08974359 ENSG00000154822 chr3:17011946-17011946;A/G missense_variant False PLCL2@p.H441D 1 0.225806452 ENSG00000154822 chr3:17010667-17010667;C/G missense_variant False PLCL2@p.H441Y 1 0.231132075 ENSG00000154822 chr3:17010667-17010667;C/T missense_variant False PLCL2@p.K570N 1 0.176470588 ENSG00000154822 chr3:17011056-17011056;G/C missense_variant False PLCZ1@p.E75K 1 0.2 ENSG00000139151 chr12:18723455-18723455;C/T missense_variant False PLCL2@p.L908F 1 0.19266055 ENSG00000154822 chr3:17012070-17012070;G/C missense_variant False PLCL2@p.N438T 1 0.344827586 ENSG00000154822 chr3:17010659-17010659;A/C missense_variant False PLCL2@p.N820S 1 0.10619469 ENSG00000154822 chr3:17011805-17011805;A/G missense_variant False PLCL2@p.Q350K 1 0.107692308 ENSG00000154822 chr3:17010394-17010394;C/A missense_variant False PLCL2@p.Q818E 1 0.554455446 ENSG00000154822 chr3:17011798-17011798;C/G missense_variant False PLCL2@p.S553F 1 0.393939394 ENSG00000154822 chr3:17011004-17011004;C/T missense_variant False PLCL2@p.S952Y 1 0.106719368 ENSG00000154822 chr3:17014748-17014748;C/A missense_variant False PLCL2@p.T305M 1 0.262711864 ENSG00000154822 chr3:17010260-17010260;C/T missense_variant False PLCXD2@p.L51V 1 0.054054054 ENSG00000240891 chr3:111675396-111675396;C/G missense_variant False PLCXD2@p.S18Y 1 0.152777778 ENSG00000240891 chr3:111675298-111675298;C/A missense_variant False PLCXD3@p.E109K 1 0.136363636 ENSG00000182836 chr5:41382313-41382313;C/T missense_variant False PLCXD3@p.H154Y 1 0.161572052 ENSG00000182836 chr5:41382178-41382178;G/A missense_variant False PLCXD3@p.H37Y 1 0.418604651 ENSG00000182836 chr5:41382529-41382529;G/A missense_variant False PLCZ1@p.A261G 1 0.095505618 ENSG00000139151 chr12:18705248-18705248;G/C missense_variant False PLEKHG7@p.D15H 1 0.229885057 ENSG00000187510 chr12:92706674-92706674;G/C missense_variant False PLEKHG7@p.D578H 1 0.225352113 ENSG00000187510 chr12:92764056-92764056;G/C missense_variant False PLXNC1@p.V1173M 1 0.443262411 ENSG00000136040 chr12:94265145-94265145;G/A missense_variant False PLVAP@p.Q212H 1 0.20610687 ENSG00000130300 chr19:17365829-17365829;C/G missense_variant False PLXDC2@p.Q45E 1 0.103448276 ENSG00000120594 chr10:20001795-20001795;C/G missense_variant False PLXDC2@p.I301V 1 0.147058824 ENSG00000120594 chr10:20177016-20177016;A/G missense_variant False PLXDC2@p.E515K 1 0.133333333 ENSG00000120594 chr10:20279772-20279772;G/A missense_variant False PLXDC1@p.P142R 1 0.326530612 ENSG00000161381 chr17:39108948-39108948;G/C missense_variant False PLVAP@p.T78M 1 0.244444444 ENSG00000130300 chr19:17377056-17377056;G/A missense_variant False PLVAP@p.R117H 1 0.349206349 ENSG00000130300 chr19:17376939-17376939;C/T missense_variant False PLVAP@p.M150T 1 0.388888889 ENSG00000130300 chr19:17366116-17366116;A/G missense_variant False PLXNA2@p.S888P 1 0.078431373 ENSG00000076356 chr1:208060762-208060762;A/G missense_variant False PLVAP@p.E371Q 1 0.536082474 ENSG00000130300 chr19:17365354-17365354;C/G missense_variant False PLVAP@p.E350K 1 0.279411765 ENSG00000130300 chr19:17365417-17365417;C/T missense_variant False PLVAP@p.E350D 1 0.276595745 ENSG00000130300 chr19:17365415-17365415;C/A missense_variant False PLVAP@p.D182N 1 0.292682927 ENSG00000130300 chr19:17365921-17365921;C/T missense_variant False PLVAP@p.A321V 1 0.195652174 ENSG00000130300 chr19:17365503-17365503;G/A missense_variant False PLTP@p.S145F 1 0.106918239 ENSG00000100979 chr20:45909567-45909567;G/A missense_variant False PLXDC2@p.Q84K 1 0.454545455 ENSG00000120594 chr10:20001912-20001912;C/A missense_variant False PLXNA1@p.E1648D 1 0.216666667 ENSG00000114554 chr3:127029947-127029947;G/C missense_variant False PLXNA1@p.G329D 1 0.221238938 ENSG00000114554 chr3:126989579-126989579;G/A missense_variant False PLXNA1@p.I1026V 1 0.067164179 ENSG00000114554 chr3:127016578-127016578;A/G missense_variant False PLXNA1@p.K1439N 1 0.481203008 ENSG00000114554 chr3:127022773-127022773;G/T missense_variant False PLXNA1@p.L1493F 1 0.236842105 ENSG00000114554 chr3:127028054-127028054;C/T missense_variant False PLXNA1@p.S1135Y 1 0.223140496 ENSG00000114554 chr3:127017552-127017552;C/A missense_variant False PLXNA1@p.Y659Vfs*63 1 0.223684211 ENSG00000114554 chr3:127006156-127006164;TACAACTGC/GTTGT frameshift_variant False PLXNA2@p.A658P 1 0.435483871 ENSG00000076356 chr1:208096039-208096039;C/G missense_variant False PLXNA2@p.D1030N 1 0.068181818 ENSG00000076356 chr1:208051329-208051329;C/T missense_variant False PLXNA2@p.I1613M 1 0.129032258 ENSG00000076356 chr1:208034518-208034518;G/C missense_variant False PLXNA2@p.I268M 1 0.177083333 ENSG00000076356 chr1:208217119-208217119;G/C missense_variant False PLXNA2@p.I363M 1 0.354166667 ENSG00000076356 chr1:208216834-208216834;G/C missense_variant False PLXNA2@p.L256I 1 0.448888889 ENSG00000076356 chr1:208217157-208217157;G/T missense_variant False PLXNA2@p.N1065Kfs*24 1 0.174757282 ENSG00000076356 chr1:208051069-208051070;-/T frameshift_variant False PLXNA2@p.P31Qfs*23 1 0.097560976 ENSG00000076356 chr1:208217831-208217831;G/- frameshift_variant False PLXNA2@p.R551Q 1 0.333333333 ENSG00000076356 chr1:208098925-208098925;C/T missense_variant False PLTP@p.L241* 1 0.118644068 ENSG00000100979 chr20:45905103-45905103;G/- frameshift_variant False PLTP@p.I65M 1 0.169117647 ENSG00000100979 chr20:45911157-45911157;G/C missense_variant False PLTP@p.E47Q 1 0.27 ENSG00000100979 chr20:45911213-45911213;C/G missense_variant False PLS1@p.V276L 1 0.513513514 ENSG00000120756 chr3:142684333-142684333;G/T missense_variant False PLPPR5@p.A27V 1 0.447619048 ENSG00000117598 chr1:99004592-99004592;G/A missense_variant False PLPPR5@p.M20I 1 0.223404255 ENSG00000117598 chr1:99004612-99004612;C/G missense_variant False PLPPR5@p.P114S 1 0.458333333 ENSG00000117598 chr1:98956639-98956639;G/A missense_variant False PLPPR5@p.P224S 1 0.26 ENSG00000117598 chr1:98922010-98922010;G/A missense_variant False PLPPR5@p.R121L 1 0.166666667 ENSG00000117598 chr1:98956617-98956617;C/A missense_variant False PLRG1@p.I395V 1 0.244444444 ENSG00000171566 chr4:154538077-154538077;T/C missense_variant False PLRG1@p.R318T 1 0.145833333 ENSG00000171566 chr4:154540040-154540040;C/G missense_variant False PLRG1@p.S473C 1 0.266666667 ENSG00000171566 chr4:154537353-154537353;G/C missense_variant False PLRG1@p.S9C 1 0.145833333 ENSG00000171566 chr4:154548919-154548919;G/C missense_variant False PLS1@p.D161N 1 0.447513812 ENSG00000120756 chr3:142676273-142676273;G/A missense_variant False PLS1@p.E256K 1 0.333333333 ENSG00000120756 chr3:142684273-142684273;G/A missense_variant False PLS1@p.E520K 1 0.469387755 ENSG00000120756 chr3:142704515-142704515;G/A missense_variant False PLS1@p.E568Q 1 0.095744681 ENSG00000120756 chr3:142711573-142711573;G/C missense_variant False PLS1@p.M168I 1 0.345454545 ENSG00000120756 chr3:142678038-142678038;G/A missense_variant False PLS3@p.A44P 1 0.577777778 ENSG00000102024 chrX:115622302-115622302;G/C missense_variant False PLTP@p.E473K 1 0.25 ENSG00000100979 chr20:45899006-45899006;C/T missense_variant False PLS3@p.D332H 1 0.2 ENSG00000102024 chrX:115643319-115643319;G/C missense_variant False PLS3@p.E217K 1 0.387755102 ENSG00000102024 chrX:115634947-115634947;G/A missense_variant False PLS3@p.E249Q 1 0.333333333 ENSG00000102024 chrX:115635043-115635043;G/C missense_variant False PLS3@p.E318K 1 0.274193548 ENSG00000102024 chrX:115640468-115640468;G/A missense_variant False PLS3@p.H280D 1 0.31884058 ENSG00000102024 chrX:115636925-115636925;C/G missense_variant False PLS3@p.S203C 1 0.283950617 ENSG00000102024 chrX:115634906-115634906;C/G missense_variant False PLSCR1@p.D284N 1 0.390625 ENSG00000188313 chr3:146517056-146517056;C/T missense_variant False PLSCR2@p.G188V 1 0.103448276 ENSG00000163746 chr3:146454141-146454141;C/A missense_variant False PLSCR2@p.L150F 1 0.589147287 ENSG00000163746 chr3:146455329-146455329;C/G missense_variant False PLSCR2@p.V215L 1 0.336633663 ENSG00000163746 chr3:146454061-146454061;C/A missense_variant False PLSCR4@p.M304I 1 0.423076923 ENSG00000114698 chr3:146195157-146195157;C/T missense_variant False PLSCR4@p.R177W 1 0.151515152 ENSG00000114698 chr3:146199908-146199908;G/A missense_variant False PLSCR5@p.T115S 1 0.226519337 ENSG00000231213 chr3:146594029-146594029;G/C missense_variant False PLTP@p.E440Q 1 0.081632653 ENSG00000100979 chr20:45899503-45899503;C/G missense_variant False PLXNA2@p.S499F 1 0.506849315 ENSG00000076356 chr1:208142339-208142339;G/A missense_variant False PLXNA2@p.S93F 1 0.475728155 ENSG00000076356 chr1:208217645-208217645;G/A missense_variant False PLPPR4@p.E694K 1 0.333333333 ENSG00000117600 chr1:99306798-99306798;G/A missense_variant False PLXNB2@p.F988L 1 0.4375 ENSG00000196576 chr22:50282734-50282734;G/C missense_variant False PLXNB2@p.Q1826H 1 0.139240506 ENSG00000196576 chr22:50275743-50275743;C/G missense_variant False PLXNB2@p.Q1162H 1 0.18 ENSG00000196576 chr22:50281602-50281602;C/G missense_variant False PLXNB2@p.L828F 1 0.244897959 ENSG00000196576 chr22:50283688-50283688;C/A missense_variant False PLXNB2@p.L1644Rfs*25 1 0.5625 ENSG00000196576 chr22:50277957-50277970;GTGCCCAGGCGCCA/- frameshift_variant False PLXNB2@p.L1316Pfs*79 1 0.214285714 ENSG00000196576 chr22:50280790-50280791;-/G frameshift_variant False PLXNB2@p.I1407M 1 0.163934426 ENSG00000196576 chr22:50280026-50280026;G/C missense_variant False PLXNB2@p.F362S 1 0.230769231 ENSG00000196576 chr22:50289126-50289126;A/G missense_variant False PLXNA2@p.T943R 1 0.227848101 ENSG00000076356 chr1:208054449-208054449;G/C missense_variant False PLXNB2@p.F133L 1 0.111111111 ENSG00000196576 chr22:50290186-50290186;G/C missense_variant False PLXNB2@p.E83K 1 0.275 ENSG00000196576 chr22:50290338-50290338;C/T missense_variant False PLXNB2@p.E622K 1 0.343065693 ENSG00000196576 chr22:50286186-50286186;C/T missense_variant False PLXNB2@p.D1496H 1 0.285714286 ENSG00000196576 chr22:50278915-50278915;C/G missense_variant False PLXNB1@p.Y1839F 1 0.357142857 ENSG00000164050 chr3:48410459-48410459;T/A missense_variant False PLXNB1@p.V1703L 1 0.159574468 ENSG00000164050 chr3:48412003-48412003;C/G missense_variant False PLXNB2@p.R1399S 1 0.096153846 ENSG00000196576 chr22:50280050-50280050;C/A missense_variant False PLXNB2@p.R600Q 1 0.626666667 ENSG00000196576 chr22:50286251-50286251;C/T missense_variant False PLXNB2@p.T1143M 1 0.191489362 ENSG00000196576 chr22:50281660-50281660;G/A missense_variant False PLXNB2@p.T396M 1 0.272727273 ENSG00000196576 chr22:50289024-50289024;G/A missense_variant False PLXNB2@p.V434Yfs*168 1 0.375 ENSG00000196576 chr22:50288827-50288828;-/ATAGAGT frameshift_variant False PLXNB3@p.C807Y 1 0.96969697 ENSG00000198753 chrX:153771558-153771558;G/A missense_variant False PLXNB3@p.E1737K 1 0.058333333 ENSG00000198753 chrX:153777636-153777636;G/A missense_variant False PLXNB3@p.G407R 1 0.2 ENSG00000198753 chrX:153768381-153768381;G/A missense_variant False PLXNB3@p.Q683H 1 0.142857143 ENSG00000198753 chrX:153770796-153770796;G/T missense_variant False PLXNB3@p.Q683L 1 0.146341463 ENSG00000198753 chrX:153770795-153770795;A/T missense_variant False PLXNB3@p.S1854C 1 0.357142857 ENSG00000198753 chrX:153778610-153778610;C/G missense_variant False PLXNC1@p.A607V 1 0.119266055 ENSG00000136040 chr12:94226634-94226634;C/T missense_variant False PLXNC1@p.E272K 1 0.666666667 ENSG00000136040 chr12:94149785-94149785;G/A missense_variant False PLXNC1@p.F1344L 1 0.142857143 ENSG00000136040 chr12:94297381-94297381;C/G missense_variant False PLXNC1@p.G485E 1 0.057471264 ENSG00000136040 chr12:94209604-94209604;G/A missense_variant False PLXNC1@p.G56S 1 0.5 ENSG00000136040 chr12:94149137-94149137;G/A missense_variant False PLXNC1@p.K1207T 1 0.188571429 ENSG00000136040 chr12:94279494-94279494;A/C missense_variant False PLXNB1@p.V1164D 1 0.333333333 ENSG00000164050 chr3:48416157-48416157;A/T missense_variant False PLXNB1@p.S638F 1 0.327272727 ENSG00000164050 chr3:48420854-48420854;G/A missense_variant False PLXNB1@p.S569F 1 0.166666667 ENSG00000164050 chr3:48421332-48421332;G/A missense_variant False PLXNA4@p.K803R 1 0.153846154 ENSG00000221866 chr7:132202824-132202824;T/C missense_variant False PLXNA3@p.E1486K 1 0.378378378 ENSG00000130827 chrX:154469077-154469077;G/A missense_variant False PLXNA3@p.F1308L 1 0.0625 ENSG00000130827 chrX:154468185-154468185;C/G missense_variant False PLXNA3@p.K1551N 1 0.53 ENSG00000130827 chrX:154469437-154469437;G/C missense_variant False PLXNA3@p.P70L 1 0.428571429 ENSG00000130827 chrX:154460392-154460392;C/T missense_variant False PLXNA3@p.S1265C 1 0.365853659 ENSG00000130827 chrX:154467975-154467975;C/G missense_variant False PLXNA4@p.A943S 1 0.235294118 ENSG00000221866 chr7:132194091-132194091;C/A missense_variant False PLXNA4@p.D1768_S1772del 1 0.1 ENSG00000221866 chr7:132140720-132140734;CAGAGAGGCAGGCGT/- inframe_deletion False PLXNA4@p.D332N 1 0.188679245 ENSG00000221866 chr7:132507700-132507700;C/T missense_variant False PLXNA4@p.E1113K 1 0.45112782 ENSG00000221866 chr7:132181536-132181536;C/T missense_variant False PLXNA4@p.E1330K 1 0.069767442 ENSG00000221866 chr7:132174807-132174807;C/T missense_variant False PLXNA4@p.E1862K 1 0.430379747 ENSG00000221866 chr7:132133054-132133054;C/T missense_variant False PLXNA4@p.F1314L 1 0.374717833 ENSG00000221866 chr7:132174855-132174855;A/G missense_variant False PLXNA4@p.G1592A 1 0.116071429 ENSG00000221866 chr7:132147989-132147989;C/G missense_variant False PLXNA4@p.I1519V 1 0.194805195 ENSG00000221866 chr7:132159578-132159578;T/C missense_variant False PLXNA4@p.M1890V 1 0.216216216 ENSG00000221866 chr7:132130496-132130496;T/C missense_variant False PLXNB1@p.S249F 1 0.338582677 ENSG00000164050 chr3:48423866-48423866;G/A missense_variant False PLXNA4@p.P794S 1 0.521126761 ENSG00000221866 chr7:132203338-132203338;G/A missense_variant False PLXNA4@p.R1025S 1 0.111111111 ENSG00000221866 chr7:132185382-132185382;C/G missense_variant False PLXNA4@p.R1381H 1 0.13559322 ENSG00000221866 chr7:132168448-132168448;C/T missense_variant False PLXNA4@p.R1615S 1 0.302631579 ENSG00000221866 chr7:132147919-132147919;C/G missense_variant False PLXNA4@p.S1367F 1 0.428571429 ENSG00000221866 chr7:132168490-132168490;G/A missense_variant False PLXNA4@p.S1781F 1 0.179245283 ENSG00000221866 chr7:132140695-132140695;G/A missense_variant False PLXNA4@p.S225W 1 0.393939394 ENSG00000221866 chr7:132508020-132508020;G/C missense_variant False PLXNA4@p.S278F 1 0.209677419 ENSG00000221866 chr7:132507861-132507861;G/A missense_variant False PLXNA4@p.T83M 1 0.3 ENSG00000221866 chr7:132508446-132508446;G/A missense_variant False PLXNB1@p.E1269Q 1 0.265306122 ENSG00000164050 chr3:48415337-48415337;C/G missense_variant False PLXNB1@p.E1894K 1 0.125 ENSG00000164050 chr3:48410003-48410003;C/T missense_variant False PLXNB1@p.E521Q 1 0.305555556 ENSG00000164050 chr3:48421766-48421766;C/G missense_variant False PLXNB1@p.P716S 1 0.294117647 ENSG00000164050 chr3:48420140-48420140;G/A missense_variant False PLXNB1@p.P761L 1 0.333333333 ENSG00000164050 chr3:48420004-48420004;G/A missense_variant False PLPPR4@p.K302Rfs*12 1 0.25974026 ENSG00000117600 chr1:99301835-99301835;A/- frameshift_variant False PLPPR4@p.E624Q 1 0.350877193 ENSG00000117600 chr1:99306588-99306588;G/C missense_variant False PLEKHG7@p.S680A 1 0.442105263 ENSG00000187510 chr12:92770157-92770157;T/G missense_variant False PLEKHM3@p.T334A 1 0.112903226 ENSG00000178385 chr2:207977197-207977197;T/C missense_variant False PLEKHO1@p.E292K 1 0.510638298 ENSG00000023902 chr1:150159167-150159167;G/A missense_variant False PLEKHN1@p.S153F 1 0.464285714 ENSG00000187583 chr1:970732-970732;C/T missense_variant False PLEKHN1@p.R86Gfs*6 1 0.264150943 ENSG00000187583 chr1:970346-970347;-/GG frameshift_variant False PLEKHN1@p.G540E 1 0.5 ENSG00000187583 chr1:973861-973861;G/A missense_variant False PLEKHN1@p.E654Q 1 0.3125 ENSG00000187583 chr1:974543-974543;G/C missense_variant False PLEKHN1@p.E217Q 1 0.612903226 ENSG00000187583 chr1:970923-970923;G/C missense_variant False PLEKHM3@p.S115L 1 0.235294118 ENSG00000178385 chr2:208001296-208001296;G/A missense_variant False PLIN1@p.E242K 1 0.421052632 ENSG00000166819 chr15:89669547-89669547;C/T missense_variant False PLEKHM3@p.E685K 1 0.671755725 ENSG00000178385 chr2:207861160-207861160;C/T missense_variant False PLEKHM3@p.D416Y 1 0.095890411 ENSG00000178385 chr2:207976951-207976951;C/A missense_variant False PLEKHM2@p.R1010C 1 0.210526316 ENSG00000116786 chr1:15733902-15733902;C/T missense_variant False PLEKHM2@p.Q269H 1 0.5 ENSG00000116786 chr1:15725411-15725411;G/C missense_variant False PLEKHM2@p.F991V 1 0.211111111 ENSG00000116786 chr1:15733845-15733845;T/G missense_variant False PLEKHM2@p.F693L 1 0.420454545 ENSG00000116786 chr1:15729800-15729800;C/A missense_variant False PLEKHO1@p.I131Sfs*42 1 0.119047619 ENSG00000023902 chr1:150156981-150156981;C/- frameshift_variant False PLEKHO1@p.R133Q 1 0.11827957 ENSG00000023902 chr1:150156990-150156990;G/A missense_variant False PLEKHO2@p.E116K 1 0.13 ENSG00000241839 chr15:64859960-64859960;G/A missense_variant False PLEKHO2@p.E259K 1 0.395833333 ENSG00000241839 chr15:64865190-64865190;G/A missense_variant False PLEKHO2@p.E259Q 1 0.441176471 ENSG00000241839 chr15:64865190-64865190;G/C missense_variant False PLEKHO2@p.E327D 1 0.323529412 ENSG00000241839 chr15:64865396-64865396;G/C missense_variant False PLEKHO2@p.E434K 1 0.553571429 ENSG00000241839 chr15:64865715-64865715;G/A missense_variant False PLEKHS1@p.E262K 1 0.202702703 ENSG00000148735 chr10:113774848-113774848;G/A missense_variant False PLEKHS1@p.L156V 1 0.20979021 ENSG00000148735 chr10:113769832-113769832;C/G missense_variant False PLG@p.E474Q 1 0.384615385 ENSG00000122194 chr6:160731214-160731214;G/C missense_variant False PLG@p.E646K 1 0.123966942 ENSG00000122194 chr6:160739126-160739126;G/A missense_variant False PLG@p.K104N 1 0.285714286 ENSG00000122194 chr6:160711096-160711096;G/T missense_variant False PLG@p.T742A 1 0.065789474 ENSG00000122194 chr6:160752213-160752213;A/G missense_variant False PLGRKT@p.F143L 1 0.058064516 ENSG00000107020 chr9:5358254-5358254;G/C missense_variant False PLGRKT@p.F5I 1 0.545454545 ENSG00000107020 chr9:5431965-5431965;A/T missense_variant False PLGRKT@p.K76Rfs*12 1 0.25 ENSG00000107020 chr9:5361173-5361173;T/- frameshift_variant False PLGRKT@p.R25Q 1 0.416666667 ENSG00000107020 chr9:5431904-5431904;C/T missense_variant False PLEKHM2@p.E769K 1 0.5 ENSG00000116786 chr1:15730628-15730628;G/A missense_variant False PLEKHM1@p.S338L 1 0.483333333 ENSG00000225190 chr17:45468504-45468504;G/A missense_variant False PLEKHM1@p.S250F 1 0.20754717 ENSG00000225190 chr17:45475274-45475274;G/A missense_variant False PLEKHH2@p.R1328W 1 0.142857143 ENSG00000152527 chr2:43758940-43758940;C/T missense_variant False PLEKHH1@p.D733N 1 0.558139535 ENSG00000054690 chr14:67575850-67575850;G/A missense_variant False PLEKHH1@p.G752A 1 0.12 ENSG00000054690 chr14:67575908-67575908;G/C missense_variant False PLEKHH1@p.L76V 1 0.529411765 ENSG00000054690 chr14:67557305-67557305;C/G missense_variant False PLEKHH1@p.S419L 1 0.285714286 ENSG00000054690 chr14:67562887-67562887;C/T missense_variant False PLEKHH2@p.A609V 1 0.104761905 ENSG00000152527 chr2:43707405-43707405;C/T missense_variant False PLEKHH2@p.D272H 1 0.235294118 ENSG00000152527 chr2:43699772-43699772;G/C missense_variant False PLEKHH2@p.D640H 1 0.177419355 ENSG00000152527 chr2:43707497-43707497;G/C missense_variant False PLEKHH2@p.D870H 1 0.382978723 ENSG00000152527 chr2:43726338-43726338;G/C missense_variant False PLEKHH2@p.E665K 1 0.168831169 ENSG00000152527 chr2:43710016-43710016;G/A missense_variant False PLEKHH2@p.G959R 1 0.171428571 ENSG00000152527 chr2:43731534-43731534;G/C missense_variant False PLEKHH2@p.L105Gfs*5 1 0.141304348 ENSG00000152527 chr2:43692640-43692641;TT/- frameshift_variant False PLEKHH2@p.L1381F 1 0.607843137 ENSG00000152527 chr2:43762375-43762375;A/C missense_variant False PLEKHH2@p.M1398T 1 0.452380952 ENSG00000152527 chr2:43764262-43764262;T/C missense_variant False PLEKHH2@p.Q103E 1 0.175824176 ENSG00000152527 chr2:43692634-43692634;C/G missense_variant False PLEKHH2@p.S216L 1 0.194444444 ENSG00000152527 chr2:43697315-43697315;C/T missense_variant False PLEKHM1@p.E595Q 1 0.083333333 ENSG00000225190 chr17:45454069-45454069;C/G missense_variant False PLEKHH2@p.S661C 1 0.045 ENSG00000152527 chr2:43710005-43710005;C/G missense_variant False PLEKHH2@p.S693L 1 0.086206897 ENSG00000152527 chr2:43710101-43710101;C/T missense_variant False PLEKHH2@p.S707F 1 0.301075269 ENSG00000152527 chr2:43710236-43710236;C/T missense_variant False PLEKHH2@p.S805F 1 0.509615385 ENSG00000152527 chr2:43712337-43712337;C/T missense_variant False PLEKHH2@p.T778S 1 0.171717172 ENSG00000152527 chr2:43712255-43712255;A/T missense_variant False PLEKHH3@p.A748T 1 0.333333333 ENSG00000068137 chr17:42668267-42668267;C/T missense_variant False PLEKHH3@p.D768Y 1 0.347222222 ENSG00000068137 chr17:42668207-42668207;C/A missense_variant False PLEKHH3@p.E35K 1 0.192307692 ENSG00000068137 chr17:42676461-42676461;C/T missense_variant False PLEKHH3@p.E473Q 1 0.211195929 ENSG00000068137 chr17:42670998-42670998;C/G missense_variant False PLEKHH3@p.G33E 1 0.294117647 ENSG00000068137 chr17:42676466-42676466;C/T missense_variant False PLEKHH3@p.R141H 1 0.389830508 ENSG00000068137 chr17:42673711-42673711;C/T missense_variant False PLEKHH3@p.S367L 1 0.16 ENSG00000068137 chr17:42671535-42671535;G/A missense_variant False PLEKHJ1@p.R105Q 1 0.118421053 ENSG00000104886 chr19:2234156-2234156;C/T missense_variant False PLEKHM1@p.A363G 1 0.147058824 ENSG00000225190 chr17:45468429-45468429;G/C missense_variant False PLGRKT@p.S67C 1 0.3375 ENSG00000107020 chr9:5361770-5361770;G/C missense_variant False PLIN2@p.H301D 1 0.6 ENSG00000147872 chr9:19118332-19118332;G/C missense_variant False PLPPR4@p.E539D 1 0.247126437 ENSG00000117600 chr1:99306335-99306335;G/C missense_variant False PLOD2@p.G469R 1 0.353658537 ENSG00000152952 chr3:146079211-146079211;C/T missense_variant False PLP2@p.P134S 1 0.5 ENSG00000102007 chrX:49174389-49174389;C/T missense_variant False PLP2@p.G25E 1 0.176470588 ENSG00000102007 chrX:49172074-49172074;G/A missense_variant False PLP1@p.P190T 1 0.081081081 ENSG00000123560 chrX:103787912-103787912;C/A missense_variant False PLOD3@p.Q284H 1 0.581818182 ENSG00000106397 chr7:101212869-101212869;C/A missense_variant False PLOD3@p.D470N 1 0.294871795 ENSG00000106397 chr7:101210624-101210624;C/T missense_variant False PLOD2@p.L618V 1 0.076923077 ENSG00000152952 chr3:146071357-146071357;G/C missense_variant False PLOD2@p.D577V 1 0.228070175 ENSG00000152952 chr3:146072616-146072616;T/A missense_variant False PLIN2@p.S129F 1 0.073170732 ENSG00000147872 chr9:19121089-19121089;G/A missense_variant False PLOD1@p.G266S 1 0.409090909 ENSG00000083444 chr1:11957896-11957896;G/A missense_variant False PLOD1@p.E353K 1 0.601694915 ENSG00000083444 chr1:11960727-11960727;G/A missense_variant False PLN@p.I33M 1 0.333333333 ENSG00000198523 chr6:118559020-118559020;C/G missense_variant False PLN@p.E2Q 1 0.5 ENSG00000198523 chr6:118558925-118558925;G/C missense_variant False PLLP@p.Y66C 1 0.590361446 ENSG00000102934 chr16:57262009-57262009;T/C missense_variant False PLK4@p.S963C 1 0.409090909 ENSG00000142731 chr4:127898516-127898516;C/G missense_variant False PLP2@p.R87Q 1 0.382022472 ENSG00000102007 chrX:49173398-49173398;G/A missense_variant False PLP2@p.S53L 1 0.352941176 ENSG00000102007 chrX:49173190-49173190;C/T missense_variant False PLPBP@p.F112V 1 0.661538462 ENSG00000147471 chr8:37772769-37772769;T/G missense_variant False PLPBP@p.K171N 1 0.392592593 ENSG00000147471 chr8:37775397-37775397;G/C missense_variant False PLPBP@p.S135C 1 0.252631579 ENSG00000147471 chr8:37772839-37772839;C/G missense_variant False PLPP1@p.E258Q 1 0.137254902 ENSG00000067113 chr5:55425289-55425289;C/G missense_variant False PLPP1@p.R196T 1 0.156626506 ENSG00000067113 chr5:55426002-55426002;C/G missense_variant False PLPP1@p.S175F 1 0.064814815 ENSG00000067113 chr5:55441876-55441876;G/A missense_variant False PLPP1@p.T274del 1 0.382352941 ENSG00000067113 chr5:55425240-55425242;GTT/- inframe_deletion False PLPP3@p.E173K 1 0.244680851 ENSG00000162407 chr1:56524335-56524335;C/T missense_variant False PLPP3@p.H157Y 1 0.148514851 ENSG00000162407 chr1:56524383-56524383;G/A missense_variant False PLPP7@p.P28H 1 0.333333333 ENSG00000160539 chr9:131290080-131290080;C/A missense_variant False PLPPR1@p.C274Y 1 0.054054054 ENSG00000148123 chr9:101317372-101317372;G/A missense_variant False PLPPR1@p.G112A 1 0.214285714 ENSG00000148123 chr9:101286186-101286186;G/C missense_variant False PLPPR1@p.T38N 1 0.206185567 ENSG00000148123 chr9:101269929-101269929;C/A missense_variant False PLPPR2@p.R260Q 1 0.392405063 ENSG00000105520 chr19:11362628-11362628;G/A missense_variant False PLPPR2@p.V254_V256del 1 0.190140845 ENSG00000105520 chr19:11362604-11362612;GCGTGGTCC/- inframe_deletion False PLK4@p.S821F 1 0.266304348 ENSG00000142731 chr4:127893781-127893781;C/T missense_variant False PLK4@p.S443Y 1 0.695652174 ENSG00000142731 chr4:127886698-127886698;C/A missense_variant False PLK4@p.R598S 1 0.34939759 ENSG00000142731 chr4:127890200-127890200;G/T missense_variant False PLK2@p.E41K 1 0.730769231 ENSG00000145632 chr5:58459839-58459839;C/T missense_variant False PLIN3@p.D61N 1 0.181818182 ENSG00000105355 chr19:4859910-4859910;C/T missense_variant False PLIN3@p.G424E 1 0.429487179 ENSG00000105355 chr19:4839226-4839226;C/T missense_variant False PLIN3@p.P205S 1 0.193277311 ENSG00000105355 chr19:4852037-4852037;G/A missense_variant False PLIN3@p.S127C 1 0.161290323 ENSG00000105355 chr19:4852270-4852270;G/C missense_variant False PLIN4@p.K452E 1 0.782258065 ENSG00000167676 chr19:4512564-4512564;T/C missense_variant False PLIN4@p.M991I 1 0.538461538 ENSG00000167676 chr19:4510945-4510945;C/T missense_variant False PLIN4@p.P1070S 1 0.291666667 ENSG00000167676 chr19:4510710-4510710;G/A missense_variant False PLIN4@p.P55L 1 0.3 ENSG00000167676 chr19:4516666-4516666;G/A missense_variant False PLIN4@p.R1057S 1 0.55 ENSG00000167676 chr19:4510747-4510747;C/A missense_variant False PLK1@p.E252Q 1 0.168539326 ENSG00000166851 chr16:23682095-23682095;G/C missense_variant False PLK1@p.E391K 1 0.090909091 ENSG00000166851 chr16:23687603-23687603;G/A missense_variant False PLK1@p.R175P 1 0.209302326 ENSG00000166851 chr16:23680199-23680199;G/C missense_variant False PLK1@p.R456C 1 0.415730337 ENSG00000166851 chr16:23689333-23689333;C/T missense_variant False PLK2@p.E287G 1 0.243243243 ENSG00000145632 chr5:58457329-58457329;T/C missense_variant False PLK2@p.E98Q 1 0.18556701 ENSG00000145632 chr5:58459071-58459071;C/G missense_variant False PLK4@p.R588T 1 0.15 ENSG00000142731 chr4:127890169-127890169;G/C missense_variant False PLK2@p.P249A 1 0.288135593 ENSG00000145632 chr5:58457552-58457552;G/C missense_variant False PLK3@p.C436S 1 0.212598425 ENSG00000173846 chr1:44804210-44804210;T/A missense_variant False PLK3@p.C436W 1 0.310344828 ENSG00000173846 chr1:44804212-44804212;T/G missense_variant False PLK3@p.E110K 1 0.384615385 ENSG00000173846 chr1:44801045-44801045;G/A missense_variant False PLK3@p.E110Q 1 0.046979866 ENSG00000173846 chr1:44801045-44801045;G/C missense_variant False PLK3@p.E423K 1 0.344827586 ENSG00000173846 chr1:44804171-44804171;G/A missense_variant False PLK3@p.I325M 1 0.212765957 ENSG00000173846 chr1:44803294-44803294;C/G missense_variant False PLK3@p.R621W 1 0.040201005 ENSG00000173846 chr1:44805598-44805598;C/T missense_variant False PLK3@p.S284L 1 0.25 ENSG00000173846 chr1:44803056-44803056;C/T missense_variant False PLK3@p.S498L 1 0.168539326 ENSG00000173846 chr1:44804489-44804489;C/T missense_variant False PLK4@p.D722N 1 0.156862745 ENSG00000142731 chr4:127892490-127892490;G/A missense_variant False PLK4@p.E418Q 1 0.25 ENSG00000142731 chr4:127886622-127886622;G/C missense_variant False PLK4@p.G348E 1 0.452830189 ENSG00000142731 chr4:127886413-127886413;G/A missense_variant False PLK4@p.L89S 1 0.375 ENSG00000142731 chr4:127883482-127883482;T/C missense_variant False PTHLH@p.G123R 1 0.242857143 ENSG00000087494 chr12:27963505-27963505;C/T missense_variant False PTPRR@p.E51K 1 0.060773481 ENSG00000153233 chr12:70892885-70892885;C/T missense_variant False PTK2@p.A535V 1 0.226666667 ENSG00000169398 chr8:140744682-140744682;G/A missense_variant False RPGRIP1@p.L620V 1 0.181034483 ENSG00000092200 chr14:21324713-21324713;C/G missense_variant False RPGRIP1L@p.D595H 1 0.238095238 ENSG00000103494 chr16:53652904-53652904;C/G missense_variant False RPGRIP1L@p.D264H 1 0.139534884 ENSG00000103494 chr16:53675109-53675109;C/G missense_variant False RPGRIP1L@p.D1281H 1 0.123287671 ENSG00000103494 chr16:53602183-53602183;C/G missense_variant False RPGRIP1L@p.D1082N 1 0.352941176 ENSG00000103494 chr16:53636489-53636489;C/T missense_variant False RPGRIP1L@p.A204P 1 0.326241135 ENSG00000103494 chr16:53687885-53687885;C/G missense_variant False RPGRIP1@p.P931S 1 0.2 ENSG00000092200 chr14:21327703-21327703;C/T missense_variant False RPGRIP1@p.L53H 1 0.27027027 ENSG00000092200 chr14:21294749-21294749;T/A missense_variant False RPGRIP1L@p.D821H 1 0.419354839 ENSG00000103494 chr16:53645847-53645847;C/G missense_variant False RPGRIP1@p.L38F 1 0.426470588 ENSG00000092200 chr14:21294705-21294705;G/C missense_variant False RPGRIP1@p.L343F 1 0.454545455 ENSG00000092200 chr14:21311922-21311922;G/C missense_variant False RPGRIP1@p.K1016N 1 0.413043478 ENSG00000092200 chr14:21328576-21328576;G/C missense_variant False RPGRIP1@p.H1172R 1 0.172413793 ENSG00000092200 chr14:21343211-21343211;A/G missense_variant False RPGRIP1@p.E320K 1 0.333333333 ENSG00000092200 chr14:21311851-21311851;G/A missense_variant False RPGRIP1@p.D349N 1 0.347826087 ENSG00000092200 chr14:21311938-21311938;G/A missense_variant False RPGRIP1L@p.D73N 1 0.361581921 ENSG00000103494 chr16:53696164-53696164;C/T missense_variant False RPGRIP1L@p.D88Y 1 0.163522013 ENSG00000103494 chr16:53692333-53692333;C/A missense_variant False RSL1D1@p.F173L 1 0.109170306 ENSG00000171490 chr16:11846709-11846709;G/C missense_variant False RPGRIP1L@p.R162T 1 0.412935323 ENSG00000103494 chr16:53692110-53692110;C/G missense_variant False RPH3A@p.R82C 1 0.373015873 ENSG00000089169 chr12:112865427-112865427;C/T missense_variant False RPH3A@p.R45M 1 0.216216216 ENSG00000089169 chr12:112847746-112847746;G/T missense_variant False RPH3A@p.M71I 1 0.631578947 ENSG00000089169 chr12:112847825-112847825;G/A missense_variant False RPH3A@p.G211V 1 0.430894309 ENSG00000089169 chr12:112869780-112869780;G/T missense_variant False RPH3A@p.D93N 1 0.3 ENSG00000089169 chr12:112865460-112865460;G/A missense_variant False RPGRIP1L@p.R205K 1 0.45323741 ENSG00000103494 chr16:53687881-53687881;C/T missense_variant False RPGRIP1L@p.R1150W 1 0.514285714 ENSG00000103494 chr16:53619193-53619193;G/A missense_variant False RPGRIP1L@p.E1032Q 1 0.153846154 ENSG00000103494 chr16:53637821-53637821;C/G missense_variant False RPGRIP1L@p.K76I 1 0.413793103 ENSG00000103494 chr16:53696154-53696154;T/A missense_variant False RPGRIP1L@p.I927V 1 0.328125 ENSG00000103494 chr16:53641380-53641380;T/C missense_variant False RPGRIP1L@p.H374D 1 0.473684211 ENSG00000103494 chr16:53664993-53664993;G/C missense_variant False RPGRIP1L@p.E244Q 1 0.381818182 ENSG00000103494 chr16:53686479-53686479;C/G missense_variant False RPGRIP1L@p.E121K 1 0.307692308 ENSG00000103494 chr16:53692234-53692234;C/T missense_variant False RPGRIP1L@p.E1049Q 1 0.347826087 ENSG00000103494 chr16:53637770-53637770;C/G missense_variant False RPGRIP1@p.D248Y 1 0.215686275 ENSG00000092200 chr14:21303485-21303485;G/T missense_variant False RPGR@p.S438C 1 0.35483871 ENSG00000156313 chrX:38297385-38297385;G/C missense_variant False RPGR@p.R824T 1 0.464788732 ENSG00000156313 chrX:38287143-38287143;C/G missense_variant False RPAP1@p.G212R 1 0.204081633 ENSG00000103932 chr15:41534843-41534843;C/G missense_variant False RPAP1@p.R721W 1 0.407407407 ENSG00000103932 chr15:41524169-41524169;G/A missense_variant False RPAP1@p.R547W 1 0.4 ENSG00000103932 chr15:41527274-41527274;G/A missense_variant False RPAP1@p.Q350H 1 0.212121212 ENSG00000103932 chr15:41529873-41529873;C/G missense_variant False RPAP1@p.L262F 1 0.198198198 ENSG00000103932 chr15:41531180-41531180;C/G missense_variant False RPAP1@p.L1178V 1 0.337209302 ENSG00000103932 chr15:41520654-41520654;G/C missense_variant False RPAP1@p.K305N 1 0.275 ENSG00000103932 chr15:41531051-41531051;C/G missense_variant False RPAP1@p.E749K 1 0.333333333 ENSG00000103932 chr15:41523962-41523962;C/T missense_variant False RPGR@p.K987Q 1 0.651162791 ENSG00000156313 chrX:38269730-38269730;T/G missense_variant False RPAP1@p.E665K 1 0.672727273 ENSG00000103932 chr15:41525073-41525073;C/T missense_variant False RPAP1@p.E522K 1 0.240740741 ENSG00000103932 chr15:41527470-41527470;C/T missense_variant False RPAP1@p.D1124Y 1 0.454545455 ENSG00000103932 chr15:41520816-41520816;C/A missense_variant False RPAIN@p.E87V 1 0.40625 ENSG00000129197 chr17:5422776-5422776;A/T missense_variant False RPAIN@p.E68K 1 0.603174603 ENSG00000129197 chr17:5421416-5421416;G/A missense_variant False RPAIN@p.C187F 1 0.474576271 ENSG00000129197 chr17:5428141-5428141;G/T missense_variant False RPAP2@p.E205K 1 0.264705882 ENSG00000122484 chr1:92323533-92323533;G/A missense_variant False RPAP2@p.E450Q 1 0.5 ENSG00000122484 chr1:92324268-92324268;G/C missense_variant False RPAP2@p.E45Q 1 0.395348837 ENSG00000122484 chr1:92301489-92301489;G/C missense_variant False RPAP2@p.R544K 1 0.258064516 ENSG00000122484 chr1:92345857-92345857;G/A missense_variant False RPAP3@p.R57Q 1 0.461538462 ENSG00000005175 chr12:47701588-47701588;C/T missense_variant False RPAP3@p.S576C 1 0.178571429 ENSG00000005175 chr12:47667838-47667838;G/C missense_variant False RPE65@p.E469Q 1 0.105263158 ENSG00000116745 chr1:68431110-68431110;C/G missense_variant False RPE65@p.K113N 1 0.205882353 ENSG00000116745 chr1:68444790-68444790;C/G missense_variant False RPE@p.Q134E 1 0.348314607 ENSG00000197713 chr2:210016564-210016564;C/G missense_variant False RPF1@p.E113K 1 0.303571429 ENSG00000117133 chr1:84482966-84482966;G/A missense_variant False RPF1@p.L145V 1 0.159090909 ENSG00000117133 chr1:84489699-84489699;C/G missense_variant False RPF1@p.L248V 1 0.362318841 ENSG00000117133 chr1:84495924-84495924;C/G missense_variant False RPF2@p.L235H 1 0.555555556 ENSG00000197498 chr6:111024290-111024290;T/A missense_variant False RPF2@p.R176L 1 0.340659341 ENSG00000197498 chr6:111015787-111015787;G/T missense_variant False RPGR@p.A537T 1 0.3 ENSG00000156313 chrX:38288005-38288005;C/T missense_variant False RPGR@p.E452K 1 0.366666667 ENSG00000156313 chrX:38297344-38297344;C/T missense_variant False RPGR@p.E812Q 1 0.129032258 ENSG00000156313 chrX:38287180-38287180;C/G missense_variant False RPH3AL@p.E193K 1 0.140243902 ENSG00000181031 chr17:247147-247147;C/T missense_variant False RPH3AL@p.I197M 1 0.641975309 ENSG00000181031 chr17:247133-247133;G/C missense_variant False RPIA@p.E122D 1 0.113043478 ENSG00000153574 chr2:88700028-88700028;G/C missense_variant False RPL34@p.R8Q 1 0.083333333 ENSG00000109475 chr4:108621982-108621982;G/A missense_variant False RPL3L@p.K5N 1 0.25 ENSG00000140986 chr16:1954137-1954137;C/G missense_variant False RPL3L@p.D406Y 1 0.238410596 ENSG00000140986 chr16:1944845-1944845;C/A missense_variant False RPL3@p.K143N 1 0.196078431 ENSG00000100316 chr22:39316778-39316778;C/G missense_variant False RPL36@p.K71T 1 0.284210526 ENSG00000130255 chr19:5691437-5691437;A/C missense_variant False RPL35A@p.A48T 1 0.272727273 ENSG00000182899 chr3:197951289-197951289;G/A missense_variant False RPL35@p.D23Wfs*4 1 0.172727273 ENSG00000136942 chr9:124861492-124861493;-/GTCCA frameshift_variant False RPL34@p.R29I 1 0.464285714 ENSG00000109475 chr4:108622125-108622125;G/T missense_variant False RPL26@p.Y62C 1 0.432432432 ENSG00000161970 chr17:8379920-8379920;T/C missense_variant False RPL32@p.K11N 1 0.090909091 ENSG00000144713 chr3:12840205-12840205;C/G missense_variant False RPL31@p.E48Q 1 0.076923077 ENSG00000071082 chr2:101004192-101004192;G/C missense_variant False RPL31@p.D123N 1 0.462686567 ENSG00000071082 chr2:101006370-101006370;G/A missense_variant False RPL29@p.P148A 1 0.236220472 ENSG00000162244 chr3:51993787-51993787;G/C missense_variant False RPL28@p.L5V 1 0.232876712 ENSG00000108107 chr19:55386370-55386370;C/G missense_variant False RPL28@p.D56N 1 0.070175439 ENSG00000108107 chr19:55386654-55386654;G/A missense_variant False RPL3L@p.M293I 1 0.209302326 ENSG00000140986 chr16:1946697-1946697;C/T missense_variant False RPL4@p.D156N 1 0.090909091 ENSG00000174444 chr15:66501868-66501868;C/T missense_variant False RPL4@p.I218M 1 0.215384615 ENSG00000174444 chr15:66501397-66501397;G/C missense_variant False RPL4@p.K163N 1 0.385542169 ENSG00000174444 chr15:66501845-66501845;C/G missense_variant False RPL4@p.M335V 1 0.239130435 ENSG00000174444 chr15:66500091-66500091;T/C missense_variant False RPL5@p.F3C 1 0.464285714 ENSG00000122406 chr1:92833393-92833393;T/G missense_variant False RPL6@p.A142T 1 0.192982456 ENSG00000089009 chr12:112406803-112406803;C/T missense_variant False RPL6@p.E231D 1 0.171875 ENSG00000089009 chr12:112405874-112405874;C/G missense_variant False RPL6@p.E86D 1 0.131578947 ENSG00000089009 chr12:112408318-112408318;C/G missense_variant False RPL7@p.E68K 1 0.2 ENSG00000147604 chr8:73292327-73292327;C/T missense_variant False RPL7@p.P138L 1 0.171171171 ENSG00000147604 chr8:73291788-73291788;G/A missense_variant False RPL7L1@p.L26V 1 0.552631579 ENSG00000146223 chr6:42880895-42880895;C/G missense_variant False RPL7L1@p.S212L 1 0.552631579 ENSG00000146223 chr6:42886331-42886331;C/T missense_variant False RPL8@p.S138F 1 0.344262295 ENSG00000161016 chr8:144791363-144791363;G/A missense_variant False RPL8@p.S223Y 1 0.225806452 ENSG00000161016 chr8:144789910-144789910;G/T missense_variant False RPLP0@p.E254Q 1 0.15862069 ENSG00000089157 chr12:120197354-120197354;C/G missense_variant False RPLP0@p.P25L 1 0.363636364 ENSG00000089157 chr12:120199466-120199466;G/A missense_variant False RPL26L1@p.K69M 1 0.277372263 ENSG00000037241 chr5:172968496-172968496;A/T missense_variant False RPL26@p.R26Q 1 0.234042553 ENSG00000161970 chr17:8382234-8382234;C/T missense_variant False RPIA@p.L169V 1 0.355932203 ENSG00000153574 chr2:88734594-88734594;C/G missense_variant False RPL10L@p.V129Sfs*20 1 0.2 ENSG00000165496 chr14:46651352-46651352;C/- frameshift_variant False RPL15@p.Q8R 1 0.35443038 ENSG00000174748 chr3:23917882-23917882;A/G missense_variant False RPL13@p.S132L 1 0.325581395 ENSG00000167526 chr16:89561726-89561726;C/T missense_variant False RPL13@p.R121C 1 0.339285714 ENSG00000167526 chr16:89561692-89561692;C/T missense_variant False RPL13@p.K209N 1 0.361111111 ENSG00000167526 chr16:89563033-89563033;G/T missense_variant False RPL11@p.R15C 1 0.291005291 ENSG00000142676 chr1:23692648-23692648;C/T missense_variant False RPL11@p.I124M 1 0.513157895 ENSG00000142676 chr1:23694770-23694770;C/G missense_variant False RPL10L@p.E182Q 1 0.338983051 ENSG00000165496 chr14:46651193-46651193;C/G missense_variant False RPL26@p.R26G 1 0.142857143 ENSG00000161970 chr17:8382235-8382235;G/C missense_variant False RPL10A@p.S57F 1 0.3 ENSG00000198755 chr6:35469389-35469389;C/T missense_variant False RPL10A@p.I206M 1 0.170212766 ENSG00000198755 chr6:35470714-35470714;C/G missense_variant False RPL10A@p.H184Y 1 0.461538462 ENSG00000198755 chr6:35470646-35470646;C/T missense_variant False RPL10@p.K169N 1 0.65 ENSG00000147403 chrX:154400716-154400716;G/C missense_variant False RPL10@p.E187K 1 0.184210526 ENSG00000147403 chrX:154400768-154400768;G/A missense_variant False RPIA@p.L171P 1 0.323809524 ENSG00000153574 chr2:88734601-88734601;T/C missense_variant False RPL15@p.R31L 1 0.382978723 ENSG00000174748 chr3:23917951-23917951;G/T missense_variant False RPL15@p.S34F 1 0.361111111 ENSG00000174748 chr3:23917960-23917960;C/T missense_variant False RPL17-C18orf32@p.Q56Lfs*33 1 0.161616162 chr18:49490841-49490842;CT/- frameshift_variant False RPL19@p.K180N 1 0.247191011 ENSG00000108298 chr17:39204597-39204597;G/C missense_variant False RPL22@p.K16Efs*9 1 0.653846154 ENSG00000116251 chr1:6197724-6197725;-/T frameshift_variant False RPL22L1@p.E115K 1 0.166666667 ENSG00000163584 chr3:170866406-170866406;C/T missense_variant False RPL23@p.R90T 1 0.13592233 ENSG00000125691 chr17:38850433-38850433;C/G missense_variant False RPL23@p.T64Rfs*20 1 0.12987013 ENSG00000125691 chr17:38852620-38852639;TGGTTTGCCTTTCTTGACTG/- frameshift_variant False RPL23A@p.L29F 1 0.084745763 ENSG00000198242 chr17:28720768-28720768;G/C missense_variant False RPL23A@p.P80L 1 0.096 ENSG00000198242 chr17:28722752-28722752;C/T missense_variant False RPL23A@p.R47W 1 0.259259259 ENSG00000198242 chr17:28720820-28720820;C/T missense_variant False RPL23A@p.R62W 1 0.245454545 ENSG00000198242 chr17:28720865-28720865;C/T missense_variant False RPL24@p.A85V 1 0.293103448 ENSG00000114391 chr3:101682846-101682846;G/A missense_variant False RPL24@p.D89N 1 0.3125 ENSG00000114391 chr3:101682835-101682835;C/T missense_variant False RPL24@p.G155E 1 0.534818942 ENSG00000114391 chr3:101681145-101681145;C/T missense_variant False RPL24@p.R56T 1 0.459459459 ENSG00000114391 chr3:101685843-101685843;C/G missense_variant False RPL26@p.E138Q 1 0.076923077 ENSG00000161970 chr17:8377590-8377590;C/G missense_variant False RPA4@p.N88Y 1 0.295454545 ENSG00000204086 chrX:96884572-96884572;A/T missense_variant False RPA3@p.G97A 1 0.118320611 ENSG00000106399 chr7:7637076-7637076;C/G missense_variant False RPA3@p.D3Y 1 0.222222222 ENSG00000106399 chr7:7640412-7640412;C/A missense_variant False ROCK2@p.I796M 1 0.06 ENSG00000134318 chr2:11207887-11207887;T/C missense_variant False ROCK2@p.S937C 1 0.619565217 ENSG00000134318 chr2:11201057-11201057;G/C missense_variant False ROCK2@p.S279F 1 0.325714286 ENSG00000134318 chr2:11227286-11227286;G/A missense_variant False ROCK2@p.S1362C 1 0.218253968 ENSG00000134318 chr2:11192226-11192226;G/C missense_variant False ROCK2@p.R634G 1 0.080357143 ENSG00000134318 chr2:11214876-11214876;G/C missense_variant False ROCK2@p.R1226G 1 0.360655738 ENSG00000134318 chr2:11193790-11193790;T/C missense_variant False ROCK2@p.K1307E 1 0.231884058 ENSG00000134318 chr2:11192481-11192481;T/C missense_variant False ROCK2@p.F71L 1 0.166666667 ENSG00000134318 chr2:11287665-11287665;G/C missense_variant False ROCK1@p.R1012Q 1 0.406779661 ENSG00000067900 chr18:20967909-20967909;C/T missense_variant False ROCK2@p.E617Q 1 0.055045872 ENSG00000134318 chr2:11214927-11214927;C/G missense_variant False ROCK2@p.E485K 1 0.241071429 ENSG00000134318 chr2:11216166-11216166;C/T missense_variant False ROCK2@p.E260Q 1 0.134228188 ENSG00000134318 chr2:11227344-11227344;C/G missense_variant False ROCK2@p.D93N 1 0.180645161 ENSG00000134318 chr2:11286586-11286586;C/T missense_variant False ROCK1@p.S633C 1 0.103448276 ENSG00000067900 chr18:20992925-20992925;G/C missense_variant False ROCK1@p.R956T 1 0.277777778 ENSG00000067900 chr18:20969162-20969162;C/G missense_variant False ROCK2@p.V289L 1 0.293650794 ENSG00000134318 chr2:11227257-11227257;C/G missense_variant False ROM1@p.P94R 1 0.846153846 ENSG00000149489 chr11:62613562-62613562;C/G missense_variant False ROPN1@p.E143Q 1 0.17699115 ENSG00000065371 chr3:123970187-123970187;C/G missense_variant False ROPN1@p.R182S 1 0.084033613 ENSG00000065371 chr3:123970068-123970068;C/A missense_variant False ROPN1L@p.C120S 1 0.142857143 ENSG00000145491 chr5:10450055-10450055;G/C missense_variant False ROPN1L@p.P164S 1 0.138461538 ENSG00000145491 chr5:10461256-10461256;C/T missense_variant False ROR1@p.F610L 1 0.393939394 ENSG00000185483 chr1:64177871-64177871;C/A missense_variant False ROR1@p.I675M 1 0.310810811 ENSG00000185483 chr1:64178066-64178066;C/G missense_variant False ROR1@p.L622* 1 0.433962264 ENSG00000185483 chr1:64177903-64177903;T/- frameshift_variant False ROR1@p.Q449E 1 0.24 ENSG00000185483 chr1:64159151-64159151;C/G missense_variant False ROR1@p.R619C 1 0.311111111 ENSG00000185483 chr1:64177896-64177896;C/T missense_variant False ROR2@p.D354G 1 0.577777778 ENSG00000169071 chr9:91731032-91731032;T/C missense_variant False ROR2@p.E308K 1 0.272727273 ENSG00000169071 chr9:91733137-91733137;C/T missense_variant False ROR2@p.L57V 1 0.631578947 ENSG00000169071 chr9:91775747-91775747;G/C missense_variant False ROR2@p.P794A 1 0.117647059 ENSG00000169071 chr9:91724114-91724114;G/C missense_variant False RORA@p.D373N 1 0.12979351 ENSG00000069667 chr15:60502826-60502826;C/T missense_variant False RORA@p.I57M 1 0.2 ENSG00000069667 chr15:60678682-60678682;G/C missense_variant False ROCK1@p.R10Q 1 0.055555556 ENSG00000067900 chr18:21110882-21110882;C/T missense_variant False ROCK1@p.H196Y 1 0.14 ENSG00000067900 chr18:21045296-21045296;G/A missense_variant False RORA@p.R340H 1 0.315789474 ENSG00000069667 chr15:60503591-60503591;C/T missense_variant False ROBO2@p.L1172F 1 0.164383562 ENSG00000185008 chr3:77617735-77617735;G/C missense_variant False ROBO2@p.R1158W 1 0.380952381 ENSG00000185008 chr3:77617691-77617691;C/T missense_variant False ROBO2@p.P1196H 1 0.272727273 ENSG00000185008 chr3:77622259-77622259;C/A missense_variant False ROBO2@p.L933M 1 0.096153846 ENSG00000185008 chr3:77596693-77596693;T/A missense_variant False ROBO2@p.L550V 1 0.3 ENSG00000185008 chr3:77563295-77563295;C/G missense_variant False ROBO2@p.L473P 1 0.724489796 ENSG00000185008 chr3:77558130-77558130;T/C missense_variant False ROBO2@p.L446I 1 0.087378641 ENSG00000185008 chr3:77558048-77558048;C/A missense_variant False ROBO2@p.E843Q 1 0.438095238 ENSG00000185008 chr3:77588777-77588777;G/C missense_variant False ROCK1@p.E77K 1 0.40625 ENSG00000067900 chr18:21049827-21049827;C/T missense_variant False ROBO2@p.E1010K 1 0.403225806 ENSG00000185008 chr3:77602383-77602383;G/A missense_variant False ROBO2@p.D385N 1 0.082352941 ENSG00000185008 chr3:77550911-77550911;G/A missense_variant False ROBO1@p.V1296M 1 0.235294118 ENSG00000169855 chr3:78618031-78618031;C/T missense_variant False ROBO1@p.V1064G 1 0.04587156 ENSG00000169855 chr3:78635955-78635955;A/C missense_variant False ROBO1@p.S421C 1 0.181818182 ENSG00000169855 chr3:78685826-78685826;G/C missense_variant False ROBO1@p.R489K 1 0.225806452 ENSG00000169855 chr3:78670178-78670178;C/T missense_variant False ROBO2@p.R25S 1 0.125 ENSG00000185008 chr3:77098025-77098025;C/A missense_variant False ROBO2@p.R887S 1 0.093023256 ENSG00000185008 chr3:77588911-77588911;G/T missense_variant False ROBO2@p.S1059Y 1 0.434782609 ENSG00000185008 chr3:77607837-77607837;C/A missense_variant False ROBO2@p.S191Y 1 0.111111111 ENSG00000185008 chr3:77481124-77481124;C/A missense_variant False ROBO2@p.S89C 1 0.208333333 ENSG00000185008 chr3:77098218-77098218;C/G missense_variant False ROBO2@p.S969L 1 0.085714286 ENSG00000185008 chr3:77602261-77602261;C/T missense_variant False ROBO2@p.Y997H 1 0.294117647 ENSG00000185008 chr3:77602344-77602344;T/C missense_variant False ROBO3@p.E1278Q 1 0.305084746 ENSG00000154134 chr11:124879822-124879822;G/C missense_variant False ROBO3@p.E941Q 1 0.307692308 ENSG00000154134 chr11:124877284-124877284;G/C missense_variant False ROBO3@p.L19V 1 0.236363636 ENSG00000154134 chr11:124865632-124865632;C/G missense_variant False ROBO3@p.L73M 1 0.285714286 ENSG00000154134 chr11:124868858-124868858;C/A missense_variant False ROBO3@p.P1136Hfs*103 1 0.25 ENSG00000154134 chr11:124878667-124878667;C/- frameshift_variant False ROBO3@p.R1008K 1 0.136363636 ENSG00000154134 chr11:124877973-124877973;G/A missense_variant False ROBO4@p.A197V 1 0.285714286 ENSG00000154133 chr11:124896287-124896287;G/A missense_variant False ROBO4@p.D85H 1 0.184210526 ENSG00000154133 chr11:124897079-124897079;C/G missense_variant False ROBO4@p.P825H 1 0.102564103 ENSG00000154133 chr11:124886784-124886784;G/T missense_variant False ROBO4@p.R971W 1 0.158940397 ENSG00000154133 chr11:124885131-124885131;G/A missense_variant False RORA@p.R153T 1 0.355932203 ENSG00000069667 chr15:60511588-60511588;C/G missense_variant False RORA@p.R367T 1 0.379310345 ENSG00000069667 chr15:60502843-60502843;C/G missense_variant False RPA2@p.D261N 1 0.313432836 ENSG00000117748 chr1:27892195-27892195;C/T missense_variant False RP1@p.V457L 1 0.178082192 ENSG00000104237 chr8:54625251-54625251;G/C missense_variant False RP1L1@p.E1445K 1 0.430434783 ENSG00000183638 chr8:10609765-10609765;C/T missense_variant False RP1L1@p.E1392D 1 0.294314381 ENSG00000183638 chr8:10609922-10609922;C/A missense_variant False RP1L1@p.E1229K 1 0.307692308 ENSG00000183638 chr8:10610413-10610413;C/T missense_variant False RP1L1@p.E1129Q 1 0.552631579 ENSG00000183638 chr8:10610713-10610713;C/G missense_variant False RP1L1@p.D1859N 1 0.042654028 ENSG00000183638 chr8:10608523-10608523;C/T missense_variant False RP1L1@p.A2016V 1 0.384615385 ENSG00000183638 chr8:10608051-10608051;G/A missense_variant False RP1@p.T166M 1 0.416666667 ENSG00000104237 chr8:54621463-54621463;C/T missense_variant False RP1@p.H1390L 1 0.174311927 ENSG00000104237 chr8:54628051-54628051;A/T missense_variant False RP1@p.S666L 1 0.297297297 ENSG00000104237 chr8:54625879-54625879;C/T missense_variant False RP1@p.P124Q 1 0.072463768 ENSG00000104237 chr8:54621337-54621337;C/A missense_variant False RP1@p.P1205S 1 0.211009174 ENSG00000104237 chr8:54627495-54627495;C/T missense_variant False RP1@p.L1891F 1 0.362637363 ENSG00000104237 chr8:54629555-54629555;G/T missense_variant False RP1@p.L1693F 1 0.134751773 ENSG00000104237 chr8:54628961-54628961;G/T missense_variant False RP1@p.K443N 1 0.18018018 ENSG00000104237 chr8:54625211-54625211;G/C missense_variant False RP1L1@p.E1928K 1 0.167420814 ENSG00000183638 chr8:10608316-10608316;C/T missense_variant False RP1L1@p.E1990Q 1 0.251851852 ENSG00000183638 chr8:10608130-10608130;C/G missense_variant False RP1L1@p.E2083K 1 0.272222222 ENSG00000183638 chr8:10607851-10607851;C/T missense_variant False RP1L1@p.E2176K 1 0.407249467 ENSG00000183638 chr8:10607572-10607572;C/T missense_variant False RP1L1@p.G490W 1 0.12 ENSG00000183638 chr8:10612630-10612630;C/A missense_variant False RP1L1@p.G557D 1 0.397058824 ENSG00000183638 chr8:10612428-10612428;C/T missense_variant False RP1L1@p.K1155N 1 0.361111111 ENSG00000183638 chr8:10610633-10610633;C/A missense_variant False RP1L1@p.L1624M 1 0.636363636 ENSG00000183638 chr8:10609228-10609228;G/T missense_variant False RP1L1@p.L948V 1 0.347826087 ENSG00000183638 chr8:10611256-10611256;G/C missense_variant False RP1L1@p.Q1806E 1 0.216470588 ENSG00000183638 chr8:10608682-10608682;G/C missense_variant False RP1L1@p.R1110M 1 0.184210526 ENSG00000183638 chr8:10610769-10610769;C/A missense_variant False RP1L1@p.R1110S 1 0.179487179 ENSG00000183638 chr8:10610768-10610768;C/A missense_variant False RP1L1@p.R1242I 1 0.536585366 ENSG00000183638 chr8:10610373-10610373;C/A missense_variant False RP1L1@p.S1104F 1 0.1 ENSG00000183638 chr8:10610787-10610787;G/A missense_variant False RP1L1@p.S2299F 1 0.11 ENSG00000183638 chr8:10607202-10607202;G/A missense_variant False RP9@p.E152Q 1 0.210526316 ENSG00000164610 chr7:33096506-33096506;C/G missense_variant False RP9@p.S167C 1 0.301587302 ENSG00000164610 chr7:33095400-33095400;G/C missense_variant False RP1@p.I964V 1 0.545454545 ENSG00000104237 chr8:54626772-54626772;A/G missense_variant False RP1@p.G357S 1 0.285714286 ENSG00000104237 chr8:54624951-54624951;G/A missense_variant False RORB@p.I23M 1 0.177777778 ENSG00000198963 chr9:74630310-74630310;T/G missense_variant False ROS1@p.E1348D 1 0.44047619 ENSG00000047936 chr6:117356726-117356726;C/A missense_variant False ROS1@p.I736M 1 0.358490566 ENSG00000047936 chr6:117385779-117385779;G/C missense_variant False ROS1@p.I374T 1 0.15625 ENSG00000047936 chr6:117394205-117394205;A/G missense_variant False ROS1@p.I1051V 1 0.538461538 ENSG00000047936 chr6:117362833-117362833;T/C missense_variant False ROS1@p.G2119R 1 0.121212121 ENSG00000047936 chr6:117310160-117310160;C/T missense_variant False ROS1@p.G1556R 1 0.279069767 ENSG00000047936 chr6:117342403-117342403;C/T missense_variant False ROS1@p.E1518Q 1 0.275862069 ENSG00000047936 chr6:117342517-117342517;C/G missense_variant False RORC@p.K20N 1 0.044198895 ENSG00000143365 chr1:151829439-151829439;C/G missense_variant False RP1@p.F387L 1 0.543478261 ENSG00000104237 chr8:54625043-54625043;C/A missense_variant False RORC@p.F506L 1 0.136363636 ENSG00000143365 chr1:151807511-151807511;G/T missense_variant False RORC@p.E435D 1 0.153846154 ENSG00000143365 chr1:151811415-151811415;C/A missense_variant False RORC@p.E414K 1 0.111111111 ENSG00000143365 chr1:151812992-151812992;C/T missense_variant False RORC@p.E212K 1 0.15625 ENSG00000143365 chr1:151815090-151815090;C/T missense_variant False RORB@p.V377F 1 0.169811321 ENSG00000198963 chr9:74667886-74667886;G/T missense_variant False RORB@p.K110E 1 0.173913043 ENSG00000198963 chr9:74642473-74642473;A/G missense_variant False ROS1@p.K646R 1 0.473684211 ENSG00000047936 chr6:117387857-117387857;T/C missense_variant False ROS1@p.L1937I 1 0.69047619 ENSG00000047936 chr6:117319999-117319999;G/T missense_variant False ROS1@p.L199F 1 0.106666667 ENSG00000047936 chr6:117397097-117397097;C/G missense_variant False ROS1@p.L836V 1 0.761904762 ENSG00000047936 chr6:117379150-117379150;G/C missense_variant False ROS1@p.P1667S 1 0.227848101 ENSG00000047936 chr6:117341215-117341215;G/A missense_variant False ROS1@p.P561L 1 0.103448276 ENSG00000047936 chr6:117389427-117389427;G/A missense_variant False ROS1@p.Q520H 1 0.533333333 ENSG00000047936 chr6:117389549-117389549;C/A missense_variant False ROS1@p.S125C 1 0.155172414 ENSG00000047936 chr6:117404344-117404344;G/C missense_variant False ROS1@p.S1581C 1 0.2 ENSG00000047936 chr6:117341560-117341560;G/C missense_variant False ROS1@p.S2326F 1 0.367647059 ENSG00000047936 chr6:117288559-117288559;G/A missense_variant False ROS1@p.S808L 1 0.120481928 ENSG00000047936 chr6:117383390-117383390;G/A missense_variant False ROS1@p.S829F 1 0.137254902 ENSG00000047936 chr6:117383327-117383327;G/A missense_variant False ROS1@p.T257A 1 0.522522523 ENSG00000047936 chr6:117396925-117396925;T/C missense_variant False ROS1@p.V794L 1 0.26446281 ENSG00000047936 chr6:117383433-117383433;C/A missense_variant False RP1@p.A145T 1 0.236111111 ENSG00000104237 chr8:54621399-54621399;G/A missense_variant False RP1@p.C1339F 1 0.23255814 ENSG00000104237 chr8:54627898-54627898;G/T missense_variant False RP1@p.E1470K 1 0.358208955 ENSG00000104237 chr8:54628290-54628290;G/A missense_variant False RPLP0@p.R214C 1 0.24137931 ENSG00000089157 chr12:120198565-120198565;G/A missense_variant False RPN1@p.D366N 1 0.243589744 ENSG00000163902 chr3:128626773-128626773;C/T missense_variant False RPN1@p.E520Q 1 0.178947368 ENSG00000163902 chr3:128622247-128622247;C/G missense_variant False RREB1@p.A464Sfs*9 1 0.735849057 ENSG00000124782 chr6:7229486-7229492;TCGGCCA/- frameshift_variant False RREB1@p.R719H 1 0.255319149 ENSG00000124782 chr6:7230255-7230255;G/A missense_variant False RREB1@p.R54K 1 0.615384615 ENSG00000124782 chr6:7182072-7182072;G/A missense_variant False RREB1@p.R1253L 1 0.5 ENSG00000124782 chr6:7231857-7231857;G/T missense_variant False RREB1@p.N1607D 1 0.233333333 ENSG00000124782 chr6:7248723-7248723;A/G missense_variant False RREB1@p.K1509N 1 0.119402985 ENSG00000124782 chr6:7247142-7247142;G/C missense_variant False RREB1@p.D13H 1 0.261971831 ENSG00000124782 chr6:7181948-7181948;G/C missense_variant False RRBP1@p.S615I 1 0.345454545 ENSG00000125844 chr20:17658664-17658664;C/A missense_variant False RRBP1@p.E1243K 1 0.307692308 ENSG00000125844 chr20:17618628-17618628;C/T missense_variant False RRBP1@p.R761H 1 0.235294118 ENSG00000125844 chr20:17636632-17636632;C/T missense_variant False RRBP1@p.Q621L 1 0.171875 ENSG00000125844 chr20:17658646-17658646;T/A missense_variant False RRBP1@p.L1086P 1 0.366666667 ENSG00000125844 chr20:17621757-17621757;A/G missense_variant False RRBP1@p.L1058V 1 0.223300971 ENSG00000125844 chr20:17621923-17621923;G/C missense_variant False RRBP1@p.K59N 1 0.5 ENSG00000125844 chr20:17660331-17660331;C/G missense_variant False RRBP1@p.K1357N 1 0.234375 ENSG00000125844 chr20:17614860-17614860;C/G missense_variant False RREB1@p.S1033L 1 0.106382979 ENSG00000124782 chr6:7231197-7231197;C/T missense_variant False RRH@p.A111S 1 0.925 ENSG00000180245 chr4:109835399-109835399;G/T missense_variant False RRH@p.Y207F 1 0.392857143 ENSG00000180245 chr4:109837505-109837505;A/T missense_variant False RRH@p.Y294S 1 0.21656051 ENSG00000180245 chr4:109842629-109842629;A/C missense_variant False RRM1@p.D73H 1 0.322580645 ENSG00000167325 chr11:4106154-4106154;G/C missense_variant False RRM1@p.E343D 1 0.078651685 ENSG00000167325 chr11:4121756-4121756;G/C missense_variant False RRM1@p.K91N 1 0.392857143 ENSG00000167325 chr11:4106210-4106210;G/T missense_variant False RRM2@p.D138N 1 0.351515152 ENSG00000171848 chr2:10123829-10123829;G/A missense_variant False RRM2@p.E344Q 1 0.142857143 ENSG00000171848 chr2:10129246-10129246;G/C missense_variant False RRM2B@p.R327Q 1 0.182608696 ENSG00000048392 chr8:102208209-102208209;C/T missense_variant False RRM2B@p.S247L 1 0.322580645 ENSG00000048392 chr8:102214103-102214103;G/A missense_variant False RRN3@p.E288K 1 0.222222222 ENSG00000085721 chr16:15074858-15074858;C/T missense_variant False RRN3@p.F592L 1 0.205479452 ENSG00000085721 chr16:15063214-15063214;G/C missense_variant False RRN3@p.L386F 1 0.097222222 ENSG00000085721 chr16:15071224-15071224;G/A missense_variant False RRN3@p.S149T 1 0.12195122 ENSG00000085721 chr16:15086155-15086155;C/G missense_variant False RRNAD1@p.R269T 1 0.19047619 None chr1:156734178-156734178;G/C missense_variant False RRNAD1@p.R342G 1 0.5625 None chr1:156734396-156734396;C/G missense_variant False RRBP1@p.E77Q 1 0.2 ENSG00000125844 chr20:17660279-17660279;C/G missense_variant False RRBP1@p.E1189K 1 0.146017699 ENSG00000125844 chr20:17620313-17620313;C/T missense_variant False RRP12@p.D1161N 1 0.268518519 ENSG00000052749 chr10:97366144-97366144;C/T missense_variant False RPTOR@p.R927L 1 0.583333333 ENSG00000141564 chr17:80923645-80923645;G/T missense_variant False RPUSD2@p.S23_F24dup 1 0.444444444 ENSG00000166133 chr15:40569402-40569403;-/TAGCTT inframe_insertion False RPUSD2@p.E291K 1 0.31092437 ENSG00000166133 chr15:40571868-40571868;G/A missense_variant False RPUSD1@p.E139K 1 0.201754386 ENSG00000007376 chr16:786923-786923;C/T missense_variant False RPTOR@p.S469F 1 0.081081081 ENSG00000141564 chr17:80857797-80857797;C/T missense_variant False RPTOR@p.S44C 1 0.179487179 ENSG00000141564 chr17:80545760-80545760;C/G missense_variant False RPTOR@p.S1171N 1 0.149253731 ENSG00000141564 chr17:80960112-80960112;G/A missense_variant False RPTOR@p.R427Q 1 0.233333333 ENSG00000141564 chr17:80846540-80846540;G/A missense_variant False RRBP1@p.E1182K 1 0.379084967 ENSG00000125844 chr20:17620334-17620334;C/T missense_variant False RPTOR@p.R348P 1 0.06741573 ENSG00000141564 chr17:80823130-80823130;G/C missense_variant False RPTOR@p.R305S 1 0.050847458 ENSG00000141564 chr17:80822225-80822225;G/T missense_variant False RPTOR@p.Q810H 1 0.064516129 ENSG00000141564 chr17:80908839-80908839;G/T missense_variant False RPTOR@p.I179V 1 0.432098765 ENSG00000141564 chr17:80730587-80730587;A/G missense_variant False RPTOR@p.E775K 1 0.1875 ENSG00000141564 chr17:80893787-80893787;G/A missense_variant False RPTOR@p.D1175N 1 0.146067416 ENSG00000141564 chr17:80960123-80960123;G/A missense_variant False RPUSD2@p.V43F 1 0.352112676 ENSG00000166133 chr15:40569464-40569464;G/T missense_variant False RPUSD3@p.D77N 1 0.355932203 ENSG00000156990 chr3:9843498-9843498;C/T missense_variant False RPUSD3@p.S50C 1 0.259259259 ENSG00000156990 chr3:9843578-9843578;G/C missense_variant False RPUSD3@p.T92M 1 0.554455446 ENSG00000156990 chr3:9842231-9842231;G/A missense_variant False RPUSD4@p.A68P 1 0.449541284 ENSG00000165526 chr11:126211043-126211043;C/G missense_variant False RPUSD4@p.R51Q 1 0.440993789 ENSG00000165526 chr11:126211487-126211487;C/T missense_variant False RPUSD4@p.S38C 1 0.250755287 ENSG00000165526 chr11:126211526-126211526;G/C missense_variant False RPUSD4@p.S9W 1 0.210227273 ENSG00000165526 chr11:126211613-126211613;G/C missense_variant False RRAD@p.S170L 1 0.238095238 ENSG00000166592 chr16:66923656-66923656;G/A missense_variant False RRAGA@p.E221Q 1 0.235632184 ENSG00000155876 chr9:19050320-19050320;G/C missense_variant False RRAGA@p.F297_K299del 1 0.455555556 ENSG00000155876 chr9:19050549-19050557;TTGAGAAGC/- inframe_deletion False RRAGA@p.R78P 1 0.75862069 ENSG00000155876 chr9:19049892-19049892;G/C missense_variant False RRAGA@p.S108L 1 0.185185185 ENSG00000155876 chr9:19049982-19049982;C/T missense_variant False RRAGB@p.D365N 1 0.684210526 ENSG00000083750 chrX:55758311-55758311;G/A missense_variant False RRAGB@p.T129I 1 0.333333333 ENSG00000083750 chrX:55731372-55731372;C/T missense_variant False RRAS@p.E181K 1 0.405797101 ENSG00000126458 chr19:49635765-49635765;C/T missense_variant False RRAS@p.G212D 1 0.424242424 ENSG00000126458 chr19:49635598-49635598;C/T missense_variant False RRP12@p.A285T 1 0.097560976 ENSG00000052749 chr10:97388525-97388525;C/T missense_variant False RRP12@p.E133K 1 0.307692308 ENSG00000052749 chr10:97396274-97396274;C/T missense_variant False RPTN@p.W704G 1 0.305699482 ENSG00000215853 chr1:152154989-152154989;A/C missense_variant False RSC1A1@p.E130K 1 0.351758794 ENSG00000215695 chr1:15660256-15660256;G/A missense_variant False RSC1A1@p.S78C 1 0.449541284 ENSG00000215695 chr1:15660101-15660101;C/G missense_variant False RSC1A1@p.S73Y 1 0.171428571 ENSG00000215695 chr1:15660086-15660086;C/A missense_variant False RSC1A1@p.K68N 1 0.5 ENSG00000215695 chr1:15660072-15660072;G/C missense_variant False RSC1A1@p.K428N 1 0.416666667 ENSG00000215695 chr1:15661152-15661152;A/T missense_variant False RSC1A1@p.H360Y 1 0.25 ENSG00000215695 chr1:15660946-15660946;C/T missense_variant False RSC1A1@p.G24R 1 0.112903226 ENSG00000215695 chr1:15659938-15659938;G/C missense_variant False RSBN1L@p.S745C 1 0.280991736 ENSG00000187257 chr7:77778861-77778861;C/G missense_variant False RSBN1@p.G54E 1 0.169590643 ENSG00000081019 chr1:113812252-113812252;C/T missense_variant False RSBN1L@p.S419L 1 0.057553957 ENSG00000187257 chr7:77749976-77749976;C/T missense_variant False RSBN1L@p.S105C 1 0.096774194 ENSG00000187257 chr7:77696783-77696783;C/G missense_variant False RSBN1L@p.L129R 1 0.169014085 ENSG00000187257 chr7:77696855-77696855;T/G missense_variant False RSBN1L@p.H140Y 1 0.109589041 ENSG00000187257 chr7:77696887-77696887;C/T missense_variant False RSBN1@p.R566G 1 0.162790698 ENSG00000081019 chr1:113768352-113768352;G/C missense_variant False RSBN1@p.Q244R 1 0.381355932 ENSG00000081019 chr1:113798009-113798009;T/C missense_variant False RSF1@p.A1417G 1 0.134986226 ENSG00000048649 chr11:77666993-77666993;G/C missense_variant False RSF1@p.D1140N 1 0.404761905 ENSG00000048649 chr11:77675180-77675180;C/T missense_variant False RSF1@p.D793N 1 0.375 ENSG00000048649 chr11:77700852-77700852;C/T missense_variant False RSF1@p.E1344Q 1 0.134615385 ENSG00000048649 chr11:77667213-77667213;C/G missense_variant False RSF1@p.E1389K 1 0.278074866 ENSG00000048649 chr11:77667078-77667078;C/T missense_variant False RSF1@p.E341K 1 0.227906977 ENSG00000048649 chr11:77702208-77702208;C/T missense_variant False RSF1@p.E347K 1 0.164285714 ENSG00000048649 chr11:77702190-77702190;C/T missense_variant False RSF1@p.E470Q 1 0.094117647 ENSG00000048649 chr11:77701821-77701821;C/G missense_variant False RSF1@p.E521Q 1 0.286764706 ENSG00000048649 chr11:77701668-77701668;C/G missense_variant False RSF1@p.E586Q 1 0.080808081 ENSG00000048649 chr11:77701473-77701473;C/G missense_variant False RSF1@p.E754Q 1 0.174157303 ENSG00000048649 chr11:77700969-77700969;C/G missense_variant False RSF1@p.K1165N 1 0.067307692 ENSG00000048649 chr11:77675103-77675103;C/G missense_variant False RSF1@p.L1383F 1 0.431192661 ENSG00000048649 chr11:77667094-77667094;C/G missense_variant False RSF1@p.R1150Q 1 0.263157895 ENSG00000048649 chr11:77675149-77675149;C/T missense_variant False RSF1@p.S475F 1 0.446601942 ENSG00000048649 chr11:77701805-77701805;G/A missense_variant False RSF1@p.S874L 1 0.358974359 ENSG00000048649 chr11:77698581-77698581;G/A missense_variant False RSKR@p.E239K 1 0.229007634 ENSG00000167524 chr17:28611774-28611774;C/T missense_variant False RSBN1@p.N321H 1 0.453703704 ENSG00000081019 chr1:113797779-113797779;T/G missense_variant False RSAD2@p.R164G 1 0.095238095 ENSG00000134321 chr2:6883514-6883514;A/G missense_variant False RRP12@p.E73K 1 0.504273504 ENSG00000052749 chr10:97400457-97400457;C/T missense_variant False RRP15@p.D261Y 1 0.095238095 ENSG00000067533 chr1:218331023-218331023;G/T missense_variant False RRP1B@p.D352Y 1 0.285714286 ENSG00000160208 chr21:43686848-43686848;G/T missense_variant False RRP1@p.E354Q 1 0.177083333 ENSG00000160214 chr21:43802324-43802324;G/C missense_variant False RRP1@p.E343Q 1 0.444444444 ENSG00000160214 chr21:43802291-43802291;G/C missense_variant False RRP1@p.D287N 1 0.235294118 ENSG00000160214 chr21:43799617-43799617;G/A missense_variant False RRP15@p.D61N 1 0.137614679 ENSG00000067533 chr1:218302335-218302335;G/A missense_variant False RRP15@p.D279N 1 0.131578947 ENSG00000067533 chr1:218331077-218331077;G/A missense_variant False RRP12@p.T866I 1 0.25 ENSG00000052749 chr10:97370547-97370547;G/A missense_variant False RSAD2@p.R107K 1 0.347826087 ENSG00000134321 chr2:6878120-6878120;G/A missense_variant False RRP12@p.T335A 1 0.390625 ENSG00000052749 chr10:97388266-97388266;T/C missense_variant False RRP12@p.S848L 1 0.422222222 ENSG00000052749 chr10:97370756-97370756;G/A missense_variant False RRP12@p.S66F 1 0.192 ENSG00000052749 chr10:97400477-97400477;G/A missense_variant False RRP12@p.S489F 1 0.242424242 ENSG00000052749 chr10:97380866-97380866;G/A missense_variant False RRP12@p.S262L 1 0.156862745 ENSG00000052749 chr10:97388593-97388593;G/A missense_variant False RRP12@p.E930K 1 0.25 ENSG00000052749 chr10:97370176-97370176;C/T missense_variant False RRP1B@p.D66N 1 0.172413793 ENSG00000160208 chr21:43669949-43669949;G/A missense_variant False RRP1B@p.E105K 1 0.849056604 ENSG00000160208 chr21:43673911-43673911;G/A missense_variant False RRP1B@p.E495Q 1 0.254716981 ENSG00000160208 chr21:43687857-43687857;G/C missense_variant False RRP1B@p.Q508R 1 0.12962963 ENSG00000160208 chr21:43687897-43687897;A/G missense_variant False RRP36@p.D119Y 1 0.3 ENSG00000124541 chr6:43026046-43026046;G/T missense_variant False RRP36@p.R208W 1 0.267857143 ENSG00000124541 chr6:43027456-43027456;C/T missense_variant False RRP8@p.G433E 1 0.538461538 ENSG00000132275 chr11:6600219-6600219;C/T missense_variant False RRP8@p.P212A 1 0.368421053 ENSG00000132275 chr11:6601432-6601432;G/C missense_variant False RRP8@p.S62G 1 0.235294118 ENSG00000132275 chr11:6602131-6602131;T/C missense_variant False RRP9@p.A473T 1 0.225 ENSG00000114767 chr3:51933517-51933517;C/T missense_variant False RRP9@p.H365Y 1 0.333333333 ENSG00000114767 chr3:51934718-51934718;G/A missense_variant False RRS1@p.G348Lfs*28 1 0.19047619 ENSG00000179041 chr8:66430173-66430174;GG/- frameshift_variant False RRS1@p.R273C 1 0.375 ENSG00000179041 chr8:66429948-66429948;C/T missense_variant False RSAD1@p.A70T 1 0.875 ENSG00000136444 chr17:50479701-50479701;G/A missense_variant False RSAD1@p.E266K 1 0.413461538 ENSG00000136444 chr17:50482412-50482412;G/A missense_variant False RSAD1@p.R361C 1 0.180722892 ENSG00000136444 chr17:50483734-50483734;C/T missense_variant False RSAD2@p.I237M 1 0.322580645 ENSG00000134321 chr2:6887137-6887137;C/G missense_variant False RPTOR@p.A500T 1 0.230769231 ENSG00000141564 chr17:80857889-80857889;G/A missense_variant False RPTN@p.S681L 1 0.111959288 ENSG00000215853 chr1:152155057-152155057;G/A missense_variant False RPN2@p.E509K 1 0.586666667 ENSG00000118705 chr20:37230003-37230003;G/A missense_variant False RPS18@p.D51N 1 0.30075188 ENSG00000231500 chr6:33275845-33275845;G/A missense_variant False RPS20@p.R55P 1 0.346153846 ENSG00000008988 chr8:56073708-56073708;C/G missense_variant False RPS20@p.E45Q 1 0.40625 ENSG00000008988 chr8:56073739-56073739;C/G missense_variant False RPS18@p.R132Q 1 0.125 ENSG00000231500 chr6:33276402-33276402;G/A missense_variant False RPS18@p.R130C 1 0.111111111 ENSG00000231500 chr6:33276395-33276395;C/T missense_variant False RPS18@p.K151N 1 0.269230769 ENSG00000231500 chr6:33276460-33276460;G/C missense_variant False RPS18@p.K116N 1 0.176470588 ENSG00000231500 chr6:33276232-33276232;G/C missense_variant False RPS15@p.S139F 1 0.150537634 ENSG00000115268 chr19:1440440-1440440;C/T missense_variant False RPRM@p.K83T 1 0.192982456 ENSG00000177519 chr2:153478318-153478318;T/G missense_variant False RPS13@p.R3C 1 0.225352113 ENSG00000110700 chr11:17077635-17077635;G/A missense_variant False RPS12@p.Y61C 1 0.210526316 ENSG00000112306 chr6:132816511-132816511;A/G missense_variant False RPS12@p.V109L 1 0.169811321 ENSG00000112306 chr6:132817050-132817050;G/T missense_variant False RPS12@p.G86R 1 0.181818182 ENSG00000112306 chr6:132816981-132816981;G/C missense_variant False RPS12@p.E37K 1 0.358024691 ENSG00000112306 chr6:132815066-132815066;G/A missense_variant False RPS11@p.E103Q 1 0.457627119 ENSG00000142534 chr19:49498000-49498000;G/C missense_variant False RPS26@p.R42L 1 0.126436782 ENSG00000197728 chr12:56042546-56042546;G/T missense_variant False RPS27A@p.L67V 1 0.166666667 ENSG00000143947 chr2:55234840-55234840;C/G missense_variant False RPS28@p.M35I 1 0.615384615 ENSG00000233927 chr19:8321970-8321970;G/A missense_variant False RPS2@p.A50V 1 0.166666667 ENSG00000140988 chr16:1964477-1964477;G/A missense_variant False RPS2@p.E56K 1 0.538461538 ENSG00000140988 chr16:1964460-1964460;C/T missense_variant False RPS2@p.F261L 1 0.289473684 ENSG00000140988 chr16:1962197-1962197;G/T missense_variant False RPS2@p.S225L 1 0.066037736 ENSG00000140988 chr16:1962532-1962532;G/A missense_variant False RPS3A@p.N179H 1 0.315789474 ENSG00000145425 chr4:151103051-151103051;A/C missense_variant False RPS4X@p.D73N 1 0.393617021 ENSG00000198034 chrX:72275589-72275589;C/T missense_variant False RPS4X@p.E97Q 1 0.611111111 ENSG00000198034 chrX:72275124-72275124;C/G missense_variant False RPS4X@p.R77Q 1 0.411764706 ENSG00000198034 chrX:72275576-72275576;C/T missense_variant False RPS4X@p.V210M 1 0.921052632 ENSG00000198034 chrX:72273294-72273294;C/T missense_variant False RPS4Y1@p.R148P 1 0.29245283 ENSG00000129824 chrY:2854682-2854682;G/C missense_variant False RPS5@p.I117M 1 0.25 ENSG00000083845 chr19:58393391-58393391;C/G missense_variant False RPS6@p.A229S 1 0.203703704 ENSG00000137154 chr9:19376358-19376358;C/A missense_variant False RPS6@p.E222D 1 0.370786517 ENSG00000137154 chr9:19376377-19376377;C/G missense_variant False RPS6@p.K230N 1 0.30952381 ENSG00000137154 chr9:19376353-19376353;C/G missense_variant False RPS10-NUDT3@p.E34Q 1 0.471698113 ENSG00000270800 chr6:34425122-34425122;C/G missense_variant False RPRM@p.F41L 1 0.230769231 ENSG00000177519 chr2:153478443-153478443;G/T missense_variant False RPS6@p.R216T 1 0.066666667 ENSG00000137154 chr9:19376501-19376501;C/G missense_variant False RPP38@p.R14H 1 0.269230769 ENSG00000152464 chr10:15103355-15103355;G/A missense_variant False RPRD1A@p.S298T 1 0.25 ENSG00000141425 chr18:35993197-35993197;C/G missense_variant False RPRD1A@p.L154V 1 0.169491525 ENSG00000141425 chr18:36030834-36030834;G/C missense_variant False RPRD1A@p.D80Y 1 0.537313433 ENSG00000141425 chr18:36033751-36033751;C/A missense_variant False RPP40@p.F248L 1 0.742537313 ENSG00000124787 chr6:4996236-4996236;G/T missense_variant False RPP40@p.E81K 1 0.158730159 ENSG00000124787 chr6:5002128-5002128;C/T missense_variant False RPP40@p.E228K 1 0.333333333 ENSG00000124787 chr6:4996298-4996298;C/T missense_variant False RPP38@p.Q6E 1 0.092592593 ENSG00000152464 chr10:15103330-15103330;C/G missense_variant False RPRM@p.E21K 1 0.348837209 ENSG00000177519 chr2:153478505-153478505;C/T missense_variant False RPP38@p.L13F 1 0.090909091 ENSG00000152464 chr10:15103351-15103351;C/T missense_variant False RPP30@p.M165I 1 0.366013072 ENSG00000148688 chr10:90894837-90894837;G/C missense_variant False RPP25L@p.S9F 1 0.272727273 ENSG00000164967 chr9:34611271-34611271;G/A missense_variant False RPP25L@p.P136L 1 0.217391304 ENSG00000164967 chr9:34610890-34610890;G/A missense_variant False RPN2@p.Q232P 1 0.157894737 ENSG00000118705 chr20:37207277-37207277;A/C missense_variant False RPN2@p.H580Y 1 0.8 ENSG00000118705 chr20:37234080-37234080;C/T missense_variant False RPRD1A@p.V84F 1 0.371428571 ENSG00000141425 chr18:36033739-36033739;C/A missense_variant False RPRD1B@p.E98K 1 0.263157895 ENSG00000101413 chr20:38048358-38048358;G/A missense_variant False RPRD1B@p.S19C 1 0.130653266 ENSG00000101413 chr20:38034003-38034003;C/G missense_variant False RPRD2@p.D721N 1 0.203125 ENSG00000163125 chr1:150471109-150471109;G/A missense_variant False RPRD2@p.E555D 1 0.391304348 ENSG00000163125 chr1:150470613-150470613;A/T missense_variant False RPRD2@p.F277L 1 0.290322581 ENSG00000163125 chr1:150446362-150446362;C/G missense_variant False RPRD2@p.G1264A 1 0.117647059 ENSG00000163125 chr1:150472739-150472739;G/C missense_variant False RPRD2@p.G924R 1 0.210126582 ENSG00000163125 chr1:150471718-150471718;G/A missense_variant False RPRD2@p.K755N 1 0.382352941 ENSG00000163125 chr1:150471213-150471213;G/C missense_variant False RPRD2@p.L1399M 1 0.098214286 ENSG00000163125 chr1:150473143-150473143;T/A missense_variant False RPRD2@p.L75F 1 0.245901639 ENSG00000163125 chr1:150417615-150417615;G/C missense_variant False RPRD2@p.L77V 1 0.452991453 ENSG00000163125 chr1:150417619-150417619;C/G missense_variant False RPRD2@p.R1117K 1 0.24137931 ENSG00000163125 chr1:150472298-150472298;G/A missense_variant False RPRD2@p.R1170W 1 0.204819277 ENSG00000163125 chr1:150472456-150472456;C/T missense_variant False RPRD2@p.S661L 1 0.35042735 ENSG00000163125 chr1:150470930-150470930;C/T missense_variant False RPRD2@p.T572A 1 0.15625 ENSG00000163125 chr1:150470662-150470662;A/G missense_variant False RPRM@p.D10N 1 0.384615385 ENSG00000177519 chr2:153478538-153478538;C/T missense_variant False RPS6@p.R131C 1 0.445652174 ENSG00000137154 chr9:19378473-19378473;G/A missense_variant False RPS6KA1@p.D310N 1 0.189655172 ENSG00000117676 chr1:26556665-26556665;G/A missense_variant False RPTN@p.S365C 1 0.107293869 ENSG00000215853 chr1:152156005-152156005;G/C missense_variant False RPS6KC1@p.Q311E 1 0.266666667 ENSG00000136643 chr1:213167953-213167953;C/G missense_variant False RPS6KC1@p.S188F 1 0.294117647 ENSG00000136643 chr1:213129617-213129617;C/T missense_variant False RPS6KC1@p.S155N 1 0.115384615 ENSG00000136643 chr1:213117402-213117402;G/A missense_variant False RPS6KC1@p.R922K 1 0.341880342 ENSG00000136643 chr1:213242241-213242241;G/A missense_variant False RPS6KC1@p.R376T 1 0.104761905 ENSG00000136643 chr1:213232157-213232157;G/C missense_variant False RPS6KC1@p.R223H 1 0.284482759 ENSG00000136643 chr1:213129722-213129722;G/A missense_variant False RPS6KC1@p.R191I 1 0.425 ENSG00000136643 chr1:213129626-213129626;G/T missense_variant False RPS6KC1@p.L937S 1 0.151515152 ENSG00000136643 chr1:213242286-213242286;T/C missense_variant False RPS6KA6@p.S372F 1 0.454545455 ENSG00000072133 chrX:84107037-84107037;G/A missense_variant False RPS6KC1@p.F151I 1 0.089285714 ENSG00000136643 chr1:213117389-213117389;T/A missense_variant False RPS6KC1@p.E487K 1 0.221052632 ENSG00000136643 chr1:213240935-213240935;G/A missense_variant False RPS6KC1@p.D851N 1 0.273809524 ENSG00000136643 chr1:213242027-213242027;G/A missense_variant False RPS6KC1@p.A34S 1 0.3 ENSG00000136643 chr1:213051504-213051504;G/T missense_variant False RPS6KB2@p.I191M 1 0.054545455 ENSG00000175634 chr11:67432794-67432794;C/G missense_variant False RPS6KB1@p.R363Q 1 0.045811518 ENSG00000108443 chr17:59936510-59936510;G/A missense_variant False RPS6KC1@p.S199L 1 0.509803922 ENSG00000136643 chr1:213129650-213129650;C/T missense_variant False RPS6KC1@p.S500C 1 0.365079365 ENSG00000136643 chr1:213240975-213240975;C/G missense_variant False RPS6KL1@p.E460K 1 0.1875 ENSG00000198208 chr14:74908915-74908915;C/T missense_variant False RPS6KL1@p.R108W 1 0.782051282 ENSG00000198208 chr14:74919913-74919913;G/A missense_variant False RPS7@p.E171K 1 0.243243243 ENSG00000171863 chr2:3580808-3580808;G/A missense_variant False RPS7@p.R41K 1 0.28125 ENSG00000171863 chr2:3575863-3575863;G/A missense_variant False RPS8@p.G180R 1 0.108108108 ENSG00000142937 chr1:44778596-44778596;G/C missense_variant False RPS8@p.R141L 1 0.404255319 ENSG00000142937 chr1:44778034-44778034;G/T missense_variant False RPS9@p.R10P 1 0.329113924 ENSG00000170889 chr19:54201213-54201213;G/C missense_variant False RPS9@p.S160F 1 0.318181818 ENSG00000170889 chr19:54207469-54207469;C/T missense_variant False RPSA@p.I77T 1 0.3875 ENSG00000168028 chr3:39408702-39408702;T/C missense_variant False RPSA@p.P243S 1 0.376344086 ENSG00000168028 chr3:39411995-39411995;C/T missense_variant False RPSA@p.S256F 1 0.258064516 ENSG00000168028 chr3:39412035-39412035;C/T missense_variant False RPTN@p.H390Y 1 0.11790393 ENSG00000215853 chr1:152155931-152155931;G/A missense_variant False RPTN@p.I666T 1 0.135802469 ENSG00000215853 chr1:152155102-152155102;A/G missense_variant False RPTN@p.Q264E 1 0.108484006 ENSG00000215853 chr1:152156309-152156309;G/C missense_variant False RPTN@p.Q537K 1 0.345333333 ENSG00000215853 chr1:152155490-152155490;G/T missense_variant False RPS6KA6@p.S436F 1 0.45 ENSG00000072133 chrX:84106423-84106423;G/A missense_variant False RPS6KA6@p.Q537E 1 0.4 ENSG00000072133 chrX:84104504-84104504;G/C missense_variant False RPS6KA1@p.E191K 1 0.086419753 ENSG00000117676 chr1:26553493-26553493;G/A missense_variant False RPS6KA2@p.S640L 1 0.341880342 ENSG00000071242 chr6:166418244-166418244;G/A missense_variant False RPS6KA3@p.Q27H 1 0.933333333 ENSG00000177189 chrX:20234803-20234803;T/G missense_variant False RPS6KA3@p.I146T 1 0.457627119 ENSG00000177189 chrX:20194238-20194238;A/G missense_variant False RPS6KA3@p.E360Q 1 0.15625 ENSG00000177189 chrX:20176274-20176274;C/G missense_variant False RPS6KA3@p.E294K 1 0.301369863 ENSG00000177189 chrX:20177050-20177050;C/T missense_variant False RPS6KA3@p.D420N 1 0.5625 ENSG00000177189 chrX:20172841-20172841;C/T missense_variant False RPS6KA3@p.A249T 1 0.355371901 ENSG00000177189 chrX:20187857-20187857;C/T missense_variant False RPS6KA2@p.E49Q 1 0.508474576 ENSG00000071242 chr6:166538739-166538739;C/G missense_variant False RPS6KA6@p.Q294E 1 0.666666667 ENSG00000072133 chrX:84117129-84117129;G/C missense_variant False RPS6KA2@p.E456Q 1 0.1875 ENSG00000071242 chr6:166432457-166432457;C/G missense_variant False RPS6KA2@p.E115K 1 0.413043478 ENSG00000071242 chr6:166510313-166510313;C/T missense_variant False RPS6KA2@p.D589H 1 0.139534884 ENSG00000071242 chr6:166419937-166419937;C/G missense_variant False RPS6KA1@p.R394L 1 0.302325581 ENSG00000117676 chr1:26558903-26558903;G/T missense_variant False RPS6KA1@p.G74R 1 0.340909091 ENSG00000117676 chr1:26546978-26546978;G/C missense_variant False RPS6KA1@p.E216K 1 0.071917808 ENSG00000117676 chr1:26554628-26554628;G/A missense_variant False RPS6KA4@p.E31D 1 0.071428571 ENSG00000162302 chr11:64359415-64359415;G/C missense_variant False RPS6KA4@p.S236L 1 0.545454545 ENSG00000162302 chr11:64361697-64361697;C/T missense_variant False RPS6KA5@p.E486K 1 0.422413793 ENSG00000100784 chr14:90899346-90899346;C/T missense_variant False RPS6KA5@p.F797L 1 0.417218543 ENSG00000100784 chr14:90872092-90872092;G/C missense_variant False RPS6KA5@p.G21E 1 0.545454545 ENSG00000100784 chr14:91060373-91060373;C/T missense_variant False RPS6KA5@p.H769Y 1 0.139534884 ENSG00000100784 chr14:90872178-90872178;G/A missense_variant False RPS6KA5@p.M282I 1 0.076923077 ENSG00000100784 chr14:90906260-90906260;C/G missense_variant False RPS6KA5@p.P306S 1 0.148148148 ENSG00000100784 chr14:90906190-90906190;G/A missense_variant False RPS6KA5@p.Q421E 1 0.451612903 ENSG00000100784 chr14:90900226-90900226;G/C missense_variant False RPS6KA5@p.S376C 1 0.379310345 ENSG00000100784 chr14:90900729-90900729;G/C missense_variant False RPS6KA5@p.V454I 1 0.377358491 ENSG00000100784 chr14:90900127-90900127;C/T missense_variant False RPS6KA5@p.Y375F 1 0.484848485 ENSG00000100784 chr14:90900732-90900732;T/A missense_variant False RPS6KA6@p.D35N 1 0.272727273 ENSG00000072133 chrX:84164366-84164366;C/T missense_variant False RPS6KA6@p.E466K 1 0.290909091 ENSG00000072133 chrX:84105846-84105846;C/T missense_variant False RPS6KA6@p.G646S 1 0.277777778 ENSG00000072133 chrX:84096229-84096229;C/T missense_variant False RPS6KA6@p.K221R 1 0.835820896 ENSG00000072133 chrX:84120012-84120012;T/C missense_variant False RPS6KA6@p.L495F 1 0.7 ENSG00000072133 chrX:84104630-84104630;G/A missense_variant False ROBO1@p.R1615T 1 0.271186441 ENSG00000169855 chr3:78600210-78600210;C/G missense_variant False ROBO1@p.G1639R 1 0.16 ENSG00000169855 chr3:78600139-78600139;C/T missense_variant False ROBO1@p.G1386E 1 0.214285714 ENSG00000169855 chr3:78617760-78617760;C/T missense_variant False RIPPLY3@p.S119F 1 0.333333333 ENSG00000183145 chr21:37017990-37017990;C/T missense_variant False RIT2@p.H175R 1 0.272727273 ENSG00000152214 chr18:42743623-42743623;T/C missense_variant False RIT2@p.F174I 1 0.375 ENSG00000152214 chr18:42743627-42743627;A/T missense_variant False RIT2@p.E161Q 1 0.11627907 ENSG00000152214 chr18:42743666-42743666;C/G missense_variant False RIT2@p.D199H 1 0.472222222 ENSG00000152214 chr18:42743552-42743552;C/G missense_variant False RIT1@p.S19L 1 0.235849057 ENSG00000143622 chr1:155910706-155910706;G/A missense_variant False RIT1@p.M90I 1 0.109375 ENSG00000143622 chr1:155904470-155904470;C/T missense_variant False RIPPLY3@p.K151T 1 0.133333333 ENSG00000183145 chr21:37018086-37018086;A/C missense_variant False RIPOR2@p.W248C 1 0.196721311 ENSG00000111913 chr6:24850651-24850651;C/A missense_variant False RIPPLY3@p.F111V 1 0.306122449 ENSG00000183145 chr21:37017965-37017965;T/G missense_variant False RIPPLY2@p.D119H 1 0.146341463 ENSG00000203877 chr6:83857357-83857357;G/C missense_variant False RIPPLY2@p.D116H 1 0.160493827 ENSG00000203877 chr6:83857348-83857348;G/C missense_variant False RIPPLY1@p.S105F 1 0.416666667 ENSG00000147223 chrX:106900891-106900891;G/A missense_variant False RIPOR3@p.E475D 1 0.139534884 ENSG00000042062 chr20:50602294-50602294;C/G missense_variant False RIPOR3@p.E320K 1 0.4 ENSG00000042062 chr20:50604761-50604761;C/T missense_variant False RIT2@p.R197T 1 0.134020619 ENSG00000152214 chr18:42743557-42743557;C/G missense_variant False RITA1@p.G125E 1 0.486486486 ENSG00000139405 chr12:113191381-113191381;G/A missense_variant False RITA1@p.Q224E 1 0.152777778 ENSG00000139405 chr12:113191677-113191677;C/G missense_variant False RLBP1@p.E164Q 1 0.056737589 ENSG00000140522 chr15:89215095-89215095;C/G missense_variant False RLBP1@p.E170K 1 0.172413793 ENSG00000140522 chr15:89215077-89215077;C/T missense_variant False RLBP1@p.V136L 1 0.227272727 ENSG00000140522 chr15:89215179-89215179;C/G missense_variant False RLF@p.D924N 1 0.135135135 ENSG00000117000 chr1:40237472-40237472;G/A missense_variant False RLF@p.E1250K 1 0.2 ENSG00000117000 chr1:40238450-40238450;G/A missense_variant False RLF@p.E1582Q 1 0.327586207 ENSG00000117000 chr1:40239446-40239446;G/C missense_variant False RLF@p.E1748Q 1 0.458333333 ENSG00000117000 chr1:40239944-40239944;G/C missense_variant False RLF@p.H1314N 1 0.191489362 ENSG00000117000 chr1:40238642-40238642;C/A missense_variant False RLF@p.H572D 1 0.330645161 ENSG00000117000 chr1:40236416-40236416;C/G missense_variant False RLF@p.H762R 1 0.073170732 ENSG00000117000 chr1:40236987-40236987;A/G missense_variant False RLF@p.I1636M 1 0.419047619 ENSG00000117000 chr1:40239610-40239610;C/G missense_variant False RLF@p.I192S 1 0.093333333 ENSG00000117000 chr1:40195732-40195732;T/G missense_variant False RLF@p.K1377T 1 0.310344828 ENSG00000117000 chr1:40238832-40238832;A/C missense_variant False RLF@p.S1100L 1 0.682464455 ENSG00000117000 chr1:40238001-40238001;C/T missense_variant False RIPOR3@p.A277T 1 0.137931034 ENSG00000042062 chr20:50608504-50608504;C/T missense_variant False RIPOR2@p.G491E 1 0.75862069 ENSG00000111913 chr6:24843310-24843310;C/T missense_variant False RLF@p.S1659L 1 0.593220339 ENSG00000117000 chr1:40239678-40239678;C/T missense_variant False RIPK2@p.S529L 1 0.097560976 ENSG00000104312 chr8:89790379-89790379;C/T missense_variant False RIPK4@p.D4H 1 0.333333333 ENSG00000183421 chr21:41767032-41767032;C/G missense_variant False RIPK4@p.D205N 1 0.230769231 ENSG00000183421 chr21:41751107-41751107;C/T missense_variant False RIPK3@p.G461E 1 0.245192308 ENSG00000129465 chr14:24336350-24336350;C/T missense_variant False RIPK3@p.E76Q 1 0.206896552 ENSG00000129465 chr14:24339260-24339260;C/G missense_variant False RIPK3@p.E347K 1 0.117424242 ENSG00000129465 chr14:24337322-24337322;C/T missense_variant False RIPK3@p.E251Q 1 0.823529412 ENSG00000129465 chr14:24337954-24337954;C/G missense_variant False RIPK2@p.L107I 1 0.092105263 ENSG00000104312 chr8:89762974-89762974;C/A missense_variant False RIPOR2@p.E560K 1 0.484210526 ENSG00000111913 chr6:24843104-24843104;C/T missense_variant False RIPK2@p.H339Y 1 0.506666667 ENSG00000104312 chr8:89784125-89784125;C/T missense_variant False RIPK2@p.H144Y 1 0.274336283 ENSG00000104312 chr8:89765443-89765443;C/T missense_variant False RIPK2@p.D371N 1 0.093333333 ENSG00000104312 chr8:89786674-89786674;G/A missense_variant False RIPK1@p.N310T 1 0.205882353 ENSG00000137275 chr6:3104238-3104238;A/C missense_variant False RIPK1@p.M637I 1 0.322580645 ENSG00000137275 chr6:3113234-3113234;G/A missense_variant False RIPK1@p.M517Ifs*11 1 0.322834646 ENSG00000137275 chr6:3106024-3106025;-/T frameshift_variant False RIPK4@p.D743N 1 0.116666667 ENSG00000183421 chr21:41741110-41741110;C/T missense_variant False RIPK4@p.E356Gfs*21 1 0.215686275 ENSG00000183421 chr21:41745774-41745775;-/G frameshift_variant False RIPK4@p.E440K 1 0.212765957 ENSG00000183421 chr21:41743903-41743903;C/T missense_variant False RIPK4@p.E584K 1 0.264705882 ENSG00000183421 chr21:41741587-41741587;C/T missense_variant False RIPK4@p.E598Q 1 0.405405405 ENSG00000183421 chr21:41741545-41741545;C/G missense_variant False RIPK4@p.E97Q 1 0.456521739 ENSG00000183421 chr21:41756710-41756710;C/G missense_variant False RIPK4@p.G642R 1 0.111111111 ENSG00000183421 chr21:41741413-41741413;C/T missense_variant False RIPK4@p.K196N 1 0.076086957 ENSG00000183421 chr21:41751132-41751132;C/G missense_variant False RIPK4@p.L108R 1 0.495412844 ENSG00000183421 chr21:41756676-41756676;A/C missense_variant False RIPK4@p.M471I 1 0.102880658 ENSG00000183421 chr21:41741924-41741924;C/A missense_variant False RIPK4@p.M471K 1 0.515384615 ENSG00000183421 chr21:41741925-41741925;A/T missense_variant False RIPK4@p.N646* 1 0.144578313 ENSG00000183421 chr21:41741401-41741402;-/TA frameshift_variant False RIPK4@p.R607Q 1 0.091743119 ENSG00000183421 chr21:41741517-41741517;C/T missense_variant False RIPOR1@p.E881K 1 0.397350993 ENSG00000039523 chr16:67544327-67544327;G/A missense_variant False RIPOR1@p.G505A 1 0.417777778 ENSG00000039523 chr16:67542288-67542288;G/C missense_variant False RIPOR1@p.R450Q 1 0.159090909 ENSG00000039523 chr16:67542123-67542123;G/A missense_variant False RIPOR2@p.E529Q 1 0.2 ENSG00000111913 chr6:24843197-24843197;C/G missense_variant False RLF@p.S1386C 1 0.46875 ENSG00000117000 chr1:40238859-40238859;C/G missense_variant False RLF@p.S1801Y 1 0.467213115 ENSG00000117000 chr1:40240104-40240104;C/A missense_variant False RIPK1@p.E368K 1 0.164021164 ENSG00000137275 chr6:3105577-3105577;G/A missense_variant False RNASEL@p.E248D 1 0.197183099 ENSG00000135828 chr1:182586063-182586063;C/G missense_variant False RNASET2@p.E45Q 1 0.08045977 ENSG00000026297 chr6:166952502-166952502;C/G missense_variant False RNASET2@p.D99N 1 0.222222222 ENSG00000026297 chr6:166943056-166943056;C/T missense_variant False RNASEL@p.S406C 1 0.362637363 ENSG00000135828 chr1:182585590-182585590;G/C missense_variant False RNASEL@p.L210F 1 0.463768116 ENSG00000135828 chr1:182586179-182586179;G/A missense_variant False RNASEL@p.F420L 1 0.436090226 ENSG00000135828 chr1:182585547-182585547;G/C missense_variant False RNASEL@p.E424Q 1 0.078947368 ENSG00000135828 chr1:182585537-182585537;C/G missense_variant False RNASEL@p.D39H 1 0.2 ENSG00000135828 chr1:182586692-182586692;C/G missense_variant False RNASE9@p.D184Y 1 0.268292683 ENSG00000188655 chr14:20556520-20556520;C/A missense_variant False RNASEL@p.A197T 1 0.101796407 ENSG00000135828 chr1:182586218-182586218;C/T missense_variant False RNASEH2C@p.W150G 1 0.52 ENSG00000172922 chr11:65720065-65720065;A/C missense_variant False RNASEH2B@p.F195L 1 0.235294118 ENSG00000136104 chr13:50945501-50945501;C/G missense_variant False RNASEH1@p.R175I 1 0.110687023 ENSG00000171865 chr2:3549098-3549098;C/A missense_variant False RNASEH1@p.Q180H 1 0.258064516 ENSG00000171865 chr2:3549082-3549082;C/G missense_variant False RNASEH1@p.E84K 1 0.288461538 ENSG00000171865 chr2:3552303-3552303;C/T missense_variant False RND1@p.C14S 1 0.508196721 ENSG00000172602 chr12:48865728-48865728;A/T missense_variant False RND1@p.D101N 1 0.472727273 ENSG00000172602 chr12:48862026-48862026;C/T missense_variant False RND1@p.E58K 1 0.126126126 ENSG00000172602 chr12:48864819-48864819;C/T missense_variant False RND1@p.V17I 1 0.333333333 ENSG00000172602 chr12:48865719-48865719;C/T missense_variant False RND3@p.R216W 1 0.04494382 ENSG00000115963 chr2:150470076-150470076;G/A missense_variant False RNF103@p.A210V 1 0.511627907 ENSG00000239305 chr2:86605272-86605272;G/A missense_variant False RNF103@p.D538N 1 0.273743017 ENSG00000239305 chr2:86604289-86604289;C/T missense_variant False RNF103@p.E198K 1 0.56768559 ENSG00000239305 chr2:86605309-86605309;C/T missense_variant False RNF103@p.R213W 1 0.06884058 ENSG00000239305 chr2:86605264-86605264;G/A missense_variant False RNF10@p.C483F 1 0.283333333 ENSG00000022840 chr12:120563540-120563540;G/T missense_variant False RNF10@p.E591Q 1 0.269565217 ENSG00000022840 chr12:120565177-120565177;G/C missense_variant False RNF10@p.G302W 1 0.088709677 ENSG00000022840 chr12:120557619-120557619;G/T missense_variant False RNF10@p.K298N 1 0.098039216 ENSG00000022840 chr12:120557609-120557609;G/C missense_variant False RNF10@p.Y286H 1 0.336134454 ENSG00000022840 chr12:120557571-120557571;T/C missense_variant False RNF111@p.C592Y 1 0.223684211 ENSG00000157450 chr15:59076042-59076042;G/A missense_variant False RNF111@p.D388N 1 0.214285714 ENSG00000157450 chr15:59055836-59055836;G/A missense_variant False RNF111@p.E298K 1 0.144329897 ENSG00000157450 chr15:59052316-59052316;G/A missense_variant False RNASEH1@p.E64Q 1 0.228070175 ENSG00000171865 chr2:3556843-3556843;C/G missense_variant False RNASE4@p.R129T 1 0.447115385 ENSG00000258818 chr14:20699757-20699757;G/C missense_variant False RLF@p.S332C 1 0.117977528 ENSG00000117000 chr1:40231564-40231564;C/G missense_variant False RLN3@p.E74K 1 0.388888889 ENSG00000171136 chr19:14030739-14030739;G/A missense_variant False RMDN3@p.D188N 1 0.436018957 ENSG00000137824 chr15:40745222-40745222;C/T missense_variant False RMDN2@p.E193K 1 0.166666667 ENSG00000115841 chr2:37974164-37974164;G/A missense_variant False RMDN1@p.D127N 1 0.153153153 ENSG00000176623 chr8:86486600-86486600;C/T missense_variant False RMC1@p.H525Y 1 0.102766798 ENSG00000141452 chr18:23530106-23530106;C/T missense_variant False RMC1@p.E66Q 1 0.115555556 ENSG00000141452 chr18:23506986-23506986;G/C missense_variant False RLN3@p.I57M 1 0.305084746 ENSG00000171136 chr19:14028375-14028375;C/G missense_variant False RLN1@p.R3C 1 0.524822695 ENSG00000107018 chr9:5339740-5339740;G/A missense_variant False RNASE3@p.R102I 1 0.345132743 ENSG00000169397 chr14:20891991-20891991;G/T missense_variant False RLN1@p.I44N 1 0.0625 ENSG00000107018 chr9:5339616-5339616;A/T missense_variant False RLIM@p.T353I 1 0.223880597 ENSG00000131263 chrX:74592257-74592257;G/A missense_variant False RLIM@p.R283K 1 0.141025641 ENSG00000131263 chrX:74592467-74592467;C/T missense_variant False RLIM@p.Q552H 1 0.392857143 ENSG00000131263 chrX:74591659-74591659;C/G missense_variant False RLIM@p.E82K 1 0.119047619 ENSG00000131263 chrX:74594315-74594315;C/T missense_variant False RLIM@p.E487K 1 0.833333333 ENSG00000131263 chrX:74591856-74591856;C/T missense_variant False RMDN3@p.R106W 1 0.345454545 ENSG00000137824 chr15:40752050-40752050;G/A missense_variant False RMDN3@p.R34Q 1 0.347826087 ENSG00000137824 chr15:40754683-40754683;C/T missense_variant False RMI1@p.D346N 1 0.446808511 ENSG00000178966 chr9:84002022-84002022;G/A missense_variant False RMI1@p.G148E 1 0.131147541 ENSG00000178966 chr9:84001429-84001429;G/A missense_variant False RMI1@p.T258I 1 0.507936508 ENSG00000178966 chr9:84001759-84001759;C/T missense_variant False RMI2@p.D141N 1 0.134615385 ENSG00000175643 chr16:11350767-11350767;G/A missense_variant False RMND1@p.G221C 1 0.171052632 ENSG00000155906 chr6:151433183-151433183;C/A missense_variant False RMND1@p.G221V 1 0.171052632 ENSG00000155906 chr6:151433182-151433182;C/A missense_variant False RMND1@p.R379T 1 0.16091954 ENSG00000155906 chr6:151417343-151417343;C/G missense_variant False RMND5A@p.E181K 1 0.471910112 ENSG00000153561 chr2:86765046-86765046;G/A missense_variant False RMND5A@p.E212K 1 0.223214286 ENSG00000153561 chr2:86765139-86765139;G/A missense_variant False RMND5A@p.H227N 1 0.288135593 ENSG00000153561 chr2:86765184-86765184;C/A missense_variant False RMND5A@p.R211Q 1 0.493670886 ENSG00000153561 chr2:86765137-86765137;G/A missense_variant False RNASE13@p.S66L 1 0.548387097 ENSG00000206150 chr14:21034092-21034092;G/A missense_variant False RNASE1@p.M57I 1 0.088888889 ENSG00000129538 chr14:20801898-20801898;C/T missense_variant False RNASE3@p.D111H 1 0.225490196 ENSG00000169397 chr14:20892017-20892017;G/C missense_variant False RNASE3@p.H42N 1 0.263157895 ENSG00000169397 chr14:20891810-20891810;C/A missense_variant False RIPK1@p.M42V 1 0.321428571 ENSG00000137275 chr6:3076947-3076947;A/G missense_variant False RIOX2@p.S343F 1 0.173333333 ENSG00000170854 chr3:97949876-97949876;G/A missense_variant False RNF111@p.P656R 1 0.177083333 ENSG00000157450 chr15:59080954-59080954;C/G missense_variant False RIMBP2@p.R749W 1 0.23943662 ENSG00000060709 chr12:130428295-130428295;G/A missense_variant False RIMKLB@p.D342H 1 0.229508197 ENSG00000166532 chr12:8773647-8773647;G/C missense_variant False RIMKLA@p.V204A 1 0.388888889 ENSG00000177181 chr1:42410113-42410113;T/C missense_variant False RIMKLA@p.E337Q 1 0.325581395 ENSG00000177181 chr1:42414807-42414807;G/C missense_variant False RIMBP3@p.F876L 1 0.176470588 ENSG00000275793 chr22:18608807-18608807;G/T missense_variant False RIMBP2@p.T954R 1 0.081300813 ENSG00000060709 chr12:130407790-130407790;G/C missense_variant False RIMBP2@p.R7W 1 0.322580645 ENSG00000060709 chr12:130478995-130478995;G/A missense_variant False RIMBP2@p.Q1034E 1 0.210526316 ENSG00000060709 chr12:130399711-130399711;G/C missense_variant False RILPL1@p.D141Y 1 0.217391304 ENSG00000188026 chr12:123523534-123523534;C/A missense_variant False RIMBP2@p.E846G 1 0.279069767 ENSG00000060709 chr12:130414240-130414240;T/C missense_variant False RIMBP2@p.E355K 1 0.17 ENSG00000060709 chr12:130442238-130442238;C/T missense_variant False RIMBP2@p.D890N 1 0.5 ENSG00000060709 chr12:130412772-130412772;C/T missense_variant False RIMBP2@p.D378N 1 0.117647059 ENSG00000060709 chr12:130442169-130442169;C/T missense_variant False RILPL2@p.R177K 1 0.179104478 ENSG00000150977 chr12:123423119-123423119;C/T missense_variant False RILPL1@p.Q225H 1 0.396341463 ENSG00000188026 chr12:123498670-123498670;C/A missense_variant False RIMKLB@p.E25K 1 0.163636364 ENSG00000166532 chr12:8713939-8713939;G/A missense_variant False RIMKLB@p.E327K 1 0.588888889 ENSG00000166532 chr12:8773602-8773602;G/A missense_variant False RIMS1@p.D1601N 1 0.581818182 ENSG00000079841 chr6:72399035-72399035;G/A missense_variant False RIMS1@p.D499H 1 0.727272727 ENSG00000079841 chr6:72182966-72182966;G/C missense_variant False RIMS1@p.D594G 1 0.285714286 ENSG00000079841 chr6:72235652-72235652;A/G missense_variant False RIMS1@p.E312K 1 0.23255814 ENSG00000079841 chr6:72182405-72182405;G/A missense_variant False RIMS1@p.E74K 1 0.098765432 ENSG00000079841 chr6:71969038-71969038;G/A missense_variant False RIMS1@p.G963R 1 0.269230769 ENSG00000079841 chr6:72258241-72258241;G/A missense_variant False RIMS1@p.M719I 1 0.247524752 ENSG00000079841 chr6:72248043-72248043;G/C missense_variant False RIMS1@p.P1242T 1 0.181818182 ENSG00000079841 chr6:72290848-72290848;C/A missense_variant False RIMS1@p.R998Q 1 0.424242424 ENSG00000079841 chr6:72259051-72259051;G/A missense_variant False RIMS1@p.S236C 1 0.666666667 ENSG00000079841 chr6:72179809-72179809;A/T missense_variant False RIMS1@p.S711L 1 0.195121951 ENSG00000079841 chr6:72248018-72248018;C/T missense_variant False RIMS2@p.D1448Y 1 0.451612903 ENSG00000176406 chr8:104249510-104249510;G/T missense_variant False RIMS2@p.E1388Q 1 0.299145299 ENSG00000176406 chr8:104245014-104245014;G/C missense_variant False RIMS2@p.G718Efs*3 1 0.353658537 ENSG00000176406 chr8:103921740-103921740;G/- frameshift_variant False RIMS2@p.H848Y 1 0.144736842 ENSG00000176406 chr8:103942815-103942815;C/T missense_variant False RILPL1@p.E305K 1 0.131147541 ENSG00000188026 chr12:123485694-123485694;C/T missense_variant False RILP@p.P283S 1 0.393939394 ENSG00000167705 chr17:1647932-1647932;G/A missense_variant False RIMS2@p.L1109F 1 0.238095238 ENSG00000176406 chr8:104014588-104014588;C/T missense_variant False RICTOR@p.S1585L 1 0.244318182 ENSG00000164327 chr5:38944948-38944948;G/A missense_variant False RIF1@p.D1460H 1 0.30952381 ENSG00000080345 chr2:151463898-151463898;G/C missense_variant False RIF1@p.A185T 1 0.066666667 ENSG00000080345 chr2:151420239-151420239;G/A missense_variant False RIDA@p.L4F 1 0.293233083 ENSG00000132541 chr8:98117085-98117085;C/A missense_variant False RIDA@p.D72N 1 0.095652174 ENSG00000132541 chr8:98106284-98106284;C/T missense_variant False RICTOR@p.V876I 1 0.47826087 ENSG00000164327 chr5:38954845-38954845;C/T missense_variant False RICTOR@p.T504R 1 0.396825397 ENSG00000164327 chr5:38962931-38962931;G/C missense_variant False RICTOR@p.R1110C 1 0.456375839 ENSG00000164327 chr5:38950520-38950520;G/A missense_variant False RIF1@p.V1035L 1 0.223880597 ENSG00000080345 chr2:151461165-151461165;G/T missense_variant False RICTOR@p.Q197H 1 0.043859649 ENSG00000164327 chr5:38982029-38982029;C/G missense_variant False RICTOR@p.P1354S 1 0.568181818 ENSG00000164327 chr5:38949788-38949788;G/A missense_variant False RICTOR@p.N783S 1 0.194029851 ENSG00000164327 chr5:38958515-38958515;T/C missense_variant False RICTOR@p.M482I 1 0.067567568 ENSG00000164327 chr5:38962996-38962996;C/T missense_variant False RICTOR@p.L408V 1 0.296296296 ENSG00000164327 chr5:38966718-38966718;G/C missense_variant False RICTOR@p.H237Y 1 0.242424242 ENSG00000164327 chr5:38981911-38981911;G/A missense_variant False RIF1@p.D1523H 1 0.148648649 ENSG00000080345 chr2:151464087-151464087;G/C missense_variant False RIF1@p.D1690H 1 0.181818182 ENSG00000080345 chr2:151464588-151464588;G/C missense_variant False RIF1@p.E1471D 1 0.234042553 ENSG00000080345 chr2:151463933-151463933;A/C missense_variant False RIF1@p.E1476A 1 0.25 ENSG00000080345 chr2:151463947-151463947;A/C missense_variant False RIF1@p.E180Q 1 0.095238095 ENSG00000080345 chr2:151420224-151420224;G/C missense_variant False RIF1@p.E1931Q 1 0.098901099 ENSG00000080345 chr2:151465311-151465311;G/C missense_variant False RIF1@p.E220K 1 0.463768116 ENSG00000080345 chr2:151420344-151420344;G/A missense_variant False RIF1@p.G2078R 1 0.153846154 ENSG00000080345 chr2:151465752-151465752;G/C missense_variant False RIF1@p.G350Lfs*8 1 0.269230769 ENSG00000080345 chr2:151433197-151433218;TTGGACCTCATCTTCCTGCTAA/- frameshift_variant False RIF1@p.H437Y 1 0.208333333 ENSG00000080345 chr2:151436940-151436940;C/T missense_variant False RIF1@p.K1819R 1 0.083333333 ENSG00000080345 chr2:151464976-151464976;A/G missense_variant False RIF1@p.L2155F 1 0.295918367 ENSG00000080345 chr2:151465983-151465983;C/T missense_variant False RIF1@p.N688S 1 0.695652174 ENSG00000080345 chr2:151445414-151445414;A/G missense_variant False RIF1@p.Q1622R 1 0.205128205 ENSG00000080345 chr2:151464385-151464385;A/G missense_variant False RIF1@p.S1810L 1 0.13559322 ENSG00000080345 chr2:151464949-151464949;C/T missense_variant False RIF1@p.S2129C 1 0.076923077 ENSG00000080345 chr2:151465906-151465906;C/G missense_variant False RIF1@p.S2228Y 1 0.101265823 ENSG00000080345 chr2:151468082-151468082;C/A missense_variant False RIMS2@p.H940D 1 0.177777778 ENSG00000176406 chr8:103975445-103975445;C/G missense_variant False RIMS2@p.P1571L 1 0.108695652 ENSG00000176406 chr8:104251753-104251753;C/T missense_variant False RIOX2@p.R313dup 1 0.369047619 ENSG00000170854 chr3:97949963-97949964;-/TCC inframe_insertion False RIOK1@p.M168I 1 0.279069767 ENSG00000124784 chr6:7400981-7400981;G/T missense_variant False RIOK2@p.M474I 1 0.127272727 ENSG00000058729 chr5:97165123-97165123;C/G missense_variant False RIOK2@p.M274I 1 0.215909091 ENSG00000058729 chr5:97168810-97168810;C/T missense_variant False RIOK2@p.E330Q 1 0.433070866 ENSG00000058729 chr5:97167876-97167876;C/G missense_variant False RIOK2@p.E238K 1 0.269230769 ENSG00000058729 chr5:97171273-97171273;C/T missense_variant False RIOK2@p.D228N 1 0.15 ENSG00000058729 chr5:97171303-97171303;C/T missense_variant False RIOK2@p.A516P 1 0.1 ENSG00000058729 chr5:97163174-97163174;C/G missense_variant False RIOK1@p.I149M 1 0.423728814 ENSG00000124784 chr6:7398707-7398707;C/G missense_variant False RING1@p.G370V 1 0.428571429 ENSG00000204227 chr6:33211992-33211992;G/T missense_variant False RINT1@p.S743A 1 0.051546392 ENSG00000135249 chr7:105567159-105567159;T/G missense_variant False RINT1@p.S299T 1 0.303797468 ENSG00000135249 chr7:105548609-105548609;T/A missense_variant False RINT1@p.R710W 1 0.217391304 ENSG00000135249 chr7:105565590-105565590;C/T missense_variant False RINT1@p.L37V 1 0.290322581 ENSG00000135249 chr7:105536585-105536585;C/G missense_variant False RINT1@p.E724A 1 0.434782609 ENSG00000135249 chr7:105565633-105565633;A/C missense_variant False RINL@p.R246K 1 0.233333333 ENSG00000187994 chr19:38870857-38870857;C/T missense_variant False RIOK2@p.P176S 1 0.4 ENSG00000058729 chr5:97173236-97173236;G/A missense_variant False RIOK2@p.S494L 1 0.303921569 ENSG00000058729 chr5:97165064-97165064;G/A missense_variant False RIOK3@p.E213K 1 0.289855072 ENSG00000101782 chr18:23466226-23466226;G/A missense_variant False RIOK3@p.L296R 1 0.121212121 ENSG00000101782 chr18:23473500-23473500;T/G missense_variant False RIOK3@p.N104D 1 0.4 ENSG00000101782 chr18:23464097-23464097;A/G missense_variant False RIOK3@p.P149A 1 0.560606061 ENSG00000101782 chr18:23464530-23464530;C/G missense_variant False RIOK3@p.S127R 1 0.5 ENSG00000101782 chr18:23464261-23464261;C/A missense_variant False RIOX1@p.D516H 1 0.2 ENSG00000170468 chr14:73492563-73492563;G/C missense_variant False RIOX1@p.G394A 1 0.24 ENSG00000170468 chr14:73492198-73492198;G/C missense_variant False RIOX1@p.L34F 1 0.101694915 ENSG00000170468 chr14:73491119-73491119;G/C missense_variant False RIOX1@p.R44Q 1 0.272727273 ENSG00000170468 chr14:73491148-73491148;G/A missense_variant False RIOX1@p.R607K 1 0.794117647 ENSG00000170468 chr14:73492837-73492837;G/A missense_variant False RIOX2@p.E25_A26dup 1 0.179104478 ENSG00000170854 chr3:97967514-97967515;-/CTGCTT inframe_insertion False RIOX2@p.H138Y 1 0.412621359 ENSG00000170854 chr3:97967182-97967182;G/A missense_variant False RIOX2@p.K20E 1 0.4 ENSG00000170854 chr3:97967536-97967536;T/C missense_variant False RIOX2@p.L421F 1 0.333333333 ENSG00000170854 chr3:97945319-97945319;C/A missense_variant False RIOX2@p.Q387E 1 0.181818182 ENSG00000170854 chr3:97945878-97945878;G/C missense_variant False RINL@p.A195T 1 0.403508772 ENSG00000187994 chr19:38871096-38871096;C/T missense_variant False RIN3@p.W233R 1 0.839622642 ENSG00000100599 chr14:92651746-92651746;T/C missense_variant False RIMS2@p.Q164E 1 0.491525424 ENSG00000176406 chr8:103766329-103766329;C/G missense_variant False RIMS3@p.D109N 1 0.631205674 ENSG00000117016 chr1:40635950-40635950;C/T missense_variant False RIN1@p.E753Q 1 0.269230769 ENSG00000174791 chr11:66332371-66332371;C/G missense_variant False RIN1@p.A756G 1 0.272030651 ENSG00000174791 chr11:66332361-66332361;G/C missense_variant False RIMS4@p.M241V 1 0.2 ENSG00000101098 chr20:44756223-44756223;T/C missense_variant False RIMS4@p.E77Q 1 0.179775281 ENSG00000101098 chr20:44771282-44771282;C/G missense_variant False RIMS4@p.E160Q 1 0.312849162 ENSG00000101098 chr20:44757011-44757011;C/G missense_variant False RIMS4@p.E131K 1 0.106060606 ENSG00000101098 chr20:44757730-44757730;C/T missense_variant False RIMS2@p.S219L 1 0.185185185 ENSG00000176406 chr8:103766495-103766495;C/T missense_variant False RIN3@p.V679A 1 0.167410714 ENSG00000100599 chr14:92659170-92659170;T/C missense_variant False RIMS2@p.S1389Y 1 0.195876289 ENSG00000176406 chr8:104245018-104245018;C/A missense_variant False RIMS2@p.S1313F 1 0.181818182 ENSG00000176406 chr8:104148723-104148723;C/T missense_variant False RIMS2@p.S1080W 1 0.096491228 ENSG00000176406 chr8:104013618-104013618;C/G missense_variant False RIMS2@p.R361Q 1 0.365853659 ENSG00000176406 chr8:103885681-103885681;G/A missense_variant False RIMS2@p.R1529H 1 0.155913978 ENSG00000176406 chr8:104251627-104251627;G/A missense_variant False RIMS2@p.R122Q 1 0.386792453 ENSG00000176406 chr8:103697274-103697274;G/A missense_variant False RIN1@p.G219V 1 0.451327434 ENSG00000174791 chr11:66335143-66335143;C/A missense_variant False RIN1@p.G593S 1 0.307692308 ENSG00000174791 chr11:66333356-66333356;C/T missense_variant False RIN1@p.Q633E 1 0.391304348 ENSG00000174791 chr11:66332731-66332731;G/C missense_variant False RIN1@p.R629Q 1 0.11 ENSG00000174791 chr11:66332742-66332742;C/T missense_variant False RIN2@p.C293_R304delinsW 1 0.266666667 ENSG00000132669 chr20:19974756-19974788;GCCTTATAAATGGAGTGCATTCTATCAAAACCA/- inframe_deletion False RIN2@p.E385Q 1 0.232142857 ENSG00000132669 chr20:19975031-19975031;G/C missense_variant False RIN2@p.E622Q 1 0.216666667 ENSG00000132669 chr20:19975742-19975742;G/C missense_variant False RIN2@p.E865K 1 0.050632911 ENSG00000132669 chr20:20000694-20000694;G/A missense_variant False RIN2@p.P454R 1 0.333333333 ENSG00000132669 chr20:19975239-19975239;C/G missense_variant False RIN2@p.S795C 1 0.142857143 ENSG00000132669 chr20:19996715-19996715;C/G missense_variant False RIN2@p.Y785C 1 0.235294118 ENSG00000132669 chr20:19996685-19996685;A/G missense_variant False RIN3@p.E134Q 1 0.060344828 ENSG00000100599 chr14:92615439-92615439;G/C missense_variant False RIN3@p.E423Q 1 0.430769231 ENSG00000100599 chr14:92652316-92652316;G/C missense_variant False RIN3@p.I695M 1 0.343096234 ENSG00000100599 chr14:92659219-92659219;C/G missense_variant False RIN3@p.P202L 1 0.666666667 ENSG00000100599 chr14:92651654-92651654;C/T missense_variant False RIN3@p.Q744H 1 0.457142857 ENSG00000100599 chr14:92659366-92659366;G/C missense_variant False RIN3@p.R645C 1 0.448275862 ENSG00000100599 chr14:92652982-92652982;C/T missense_variant False RNF111@p.H659Y 1 0.11409396 ENSG00000157450 chr15:59080962-59080962;C/T missense_variant False RNF111@p.S871L 1 0.437735849 ENSG00000157450 chr15:59089728-59089728;C/T missense_variant False ROBO1@p.G125A 1 0.576923077 ENSG00000169855 chr3:78938726-78938726;C/G missense_variant False RNF216@p.E561Q 1 0.527777778 ENSG00000011275 chr7:5712845-5712845;C/G missense_variant False RNF216@p.M667I 1 0.711111111 ENSG00000011275 chr7:5641364-5641364;C/G missense_variant False RNF216@p.L456F 1 0.324324324 ENSG00000011275 chr7:5721140-5721140;G/A missense_variant False RNF216@p.K451N 1 0.094736842 ENSG00000011275 chr7:5721153-5721153;C/A missense_variant False RNF216@p.E776Q 1 0.284313725 ENSG00000011275 chr7:5623135-5623135;C/G missense_variant False RNF216@p.E772Q 1 0.217391304 ENSG00000011275 chr7:5623147-5623147;C/G missense_variant False RNF216@p.E71Q 1 0.506849315 ENSG00000011275 chr7:5741635-5741635;C/G missense_variant False RNF216@p.E168K 1 0.18115942 ENSG00000011275 chr7:5741344-5741344;C/T missense_variant False RNF214@p.L421Ffs*91 1 0.113772455 ENSG00000167257 chr11:117281623-117281624;-/T frameshift_variant False RNF216@p.E157D 1 0.072115385 ENSG00000011275 chr7:5741375-5741375;C/G missense_variant False RNF216@p.E145K 1 0.168032787 ENSG00000011275 chr7:5741413-5741413;C/T missense_variant False RNF216@p.D251N 1 0.285714286 ENSG00000011275 chr7:5741095-5741095;C/T missense_variant False RNF215@p.R166Q 1 0.269230769 ENSG00000099999 chr22:30386074-30386074;C/T missense_variant False RNF215@p.G225D 1 0.483516484 ENSG00000099999 chr22:30384409-30384409;C/T missense_variant False RNF215@p.D229H 1 0.381944444 ENSG00000099999 chr22:30384398-30384398;C/G missense_variant False RNF216@p.Q264E 1 0.232876712 ENSG00000011275 chr7:5741056-5741056;G/C missense_variant False RNF216@p.S361C 1 0.322580645 ENSG00000011275 chr7:5729568-5729568;G/C missense_variant False RNF217@p.E392K 1 0.135416667 ENSG00000146373 chr6:125057999-125057999;G/A missense_variant False RNF217@p.R117Q 1 0.222222222 ENSG00000146373 chr6:124962894-124962894;G/A missense_variant False RNF220@p.A263V 1 0.253731343 ENSG00000187147 chr1:44622771-44622771;C/T missense_variant False RNF220@p.A338V 1 0.205607477 ENSG00000187147 chr1:44636049-44636049;C/T missense_variant False RNF220@p.E357Q 1 0.329787234 ENSG00000187147 chr1:44636105-44636105;G/C missense_variant False RNF220@p.E493Q 1 0.061403509 ENSG00000187147 chr1:44649692-44649692;G/C missense_variant False RNF220@p.H114D 1 0.572139303 ENSG00000187147 chr1:44412437-44412437;C/G missense_variant False RNF220@p.P61T 1 0.264900662 ENSG00000187147 chr1:44412278-44412278;C/A missense_variant False RNF220@p.P97S 1 0.211604096 ENSG00000187147 chr1:44412386-44412386;C/T missense_variant False RNF220@p.R121W 1 0.118181818 ENSG00000187147 chr1:44412458-44412458;C/T missense_variant False RNF220@p.R86G 1 0.34079602 ENSG00000187147 chr1:44412353-44412353;C/G missense_variant False RNF220@p.S91Ffs*25 1 0.148148148 ENSG00000187147 chr1:44412360-44412361;-/C frameshift_variant False RNF24@p.E56Q 1 0.328947368 ENSG00000101236 chr20:3948257-3948257;C/G missense_variant False RNF25@p.G195S 1 0.384615385 ENSG00000163481 chr2:218665238-218665238;C/T missense_variant False RNF25@p.P355R 1 0.205263158 ENSG00000163481 chr2:218664273-218664273;G/C missense_variant False RNF214@p.R423S 1 0.171568627 ENSG00000167257 chr11:117281632-117281632;G/T missense_variant False RNF214@p.G425E 1 0.075376884 ENSG00000167257 chr11:117281637-117281637;G/A missense_variant False RNF2@p.M214K 1 0.2625 ENSG00000121481 chr1:185098248-185098248;T/A missense_variant False RNF213@p.E3510Kfs*3 1 0.126984127 ENSG00000173821 chr17:80353615-80353616;AG/- frameshift_variant False RNF213@p.M5206I 1 0.089285714 ENSG00000173821 chr17:80393492-80393492;G/A missense_variant False RNF213@p.L757V 1 0.102040816 ENSG00000173821 chr17:80306310-80306310;C/G missense_variant False RNF213@p.L4979V 1 0.560283688 ENSG00000173821 chr17:80388624-80388624;C/G missense_variant False RNF213@p.K2426E 1 0.128865979 ENSG00000173821 chr17:80345611-80345611;A/G missense_variant False RNF213@p.E4085K 1 0.234042553 ENSG00000173821 chr17:80369599-80369599;G/A missense_variant False RNF213@p.E3806K 1 0.107843137 ENSG00000173821 chr17:80363162-80363162;G/A missense_variant False RNF213@p.E2142K 1 0.392344498 ENSG00000173821 chr17:80344759-80344759;G/A missense_variant False RNF214@p.E29K 1 0.495145631 ENSG00000167257 chr11:117234357-117234357;G/A missense_variant False RNF213@p.D710N 1 0.135135135 ENSG00000173821 chr17:80298436-80298436;G/A missense_variant False RNF213@p.D5020N 1 0.205673759 ENSG00000173821 chr17:80389230-80389230;G/A missense_variant False RNF213@p.D497N 1 0.306122449 ENSG00000173821 chr17:80294737-80294737;G/A missense_variant False RNF213@p.D338N 1 0.22 ENSG00000173821 chr17:80289737-80289737;G/A missense_variant False RNF213@p.D273H 1 0.056497175 ENSG00000173821 chr17:80288639-80288639;G/C missense_variant False RNF213@p.A3266V 1 0.164383562 ENSG00000173821 chr17:80348132-80348132;C/T missense_variant False RNF213@p.P300L 1 0.179775281 ENSG00000173821 chr17:80288721-80288721;C/T missense_variant False RNF213@p.Q733K 1 0.476190476 ENSG00000173821 chr17:80298505-80298505;C/A missense_variant False RNF213@p.R2109S 1 0.387755102 ENSG00000173821 chr17:80344000-80344000;G/T missense_variant False RNF213@p.R745S 1 0.106060606 ENSG00000173821 chr17:80306276-80306276;A/C missense_variant False RNF213@p.R783C 1 0.189655172 ENSG00000173821 chr17:80306388-80306388;C/T missense_variant False RNF213@p.R877K 1 0.286956522 ENSG00000173821 chr17:80309146-80309146;G/A missense_variant False RNF213@p.S10Y 1 0.225 ENSG00000173821 chr17:80263710-80263710;C/A missense_variant False RNF213@p.S2462C 1 0.295652174 ENSG00000173821 chr17:80345720-80345720;C/G missense_variant False RNF213@p.S2667C 1 0.2375 ENSG00000173821 chr17:80346335-80346335;C/G missense_variant False RNF213@p.S3013C 1 0.483870968 ENSG00000173821 chr17:80347372-80347372;A/T missense_variant False RNF213@p.S3072C 1 0.151515152 ENSG00000173821 chr17:80347550-80347550;C/G missense_variant False RNF213@p.S4118F 1 0.166666667 ENSG00000173821 chr17:80369795-80369795;C/T missense_variant False RNF213@p.S411L 1 0.290322581 ENSG00000173821 chr17:80290689-80290689;C/T missense_variant False RNF213@p.S4296C 1 0.769230769 ENSG00000173821 chr17:80373110-80373110;C/G missense_variant False RNF213@p.S4834C 1 0.2 ENSG00000173821 chr17:80385583-80385583;C/G missense_variant False RNF213@p.S5L 1 0.422764228 ENSG00000173821 chr17:80263695-80263695;C/T missense_variant False RNF213@p.T718N 1 0.196969697 ENSG00000173821 chr17:80298461-80298461;C/A missense_variant False RNF2@p.E165G 1 0.1 ENSG00000121481 chr1:185098101-185098101;A/G missense_variant False RNF2@p.S310F 1 0.175438596 ENSG00000121481 chr1:185100219-185100219;C/T missense_variant False RNF212@p.C30W 1 0.454545455 ENSG00000178222 chr4:1113375-1113375;G/C missense_variant False RNFT2@p.D267Sfs*34 1 0.367346939 ENSG00000135119 chr12:116779264-116779276;AGACTTTGTTCTG/- frameshift_variant False RNLS@p.P314S 1 0.203703704 ENSG00000184719 chr10:88274969-88274969;G/A missense_variant False RNLS@p.F324Y 1 0.388888889 ENSG00000184719 chr10:88285412-88285412;A/T missense_variant False RNGTT@p.R470C 1 0.181818182 ENSG00000111880 chr6:88769805-88769805;G/A missense_variant False RNGTT@p.P462S 1 0.189189189 ENSG00000111880 chr6:88769829-88769829;G/A missense_variant False RNGTT@p.G492A 1 0.448275862 ENSG00000111880 chr6:88678384-88678384;C/G missense_variant False RNFT2@p.F391S 1 0.363636364 ENSG00000135119 chr12:116836254-116836254;T/C missense_variant False RNFT2@p.A225V 1 0.555555556 ENSG00000135119 chr12:116766860-116766860;C/T missense_variant False RNF6@p.E435K 1 0.237113402 ENSG00000127870 chr13:26214579-26214579;C/T missense_variant False RNFT1@p.M38I 1 0.213114754 ENSG00000189050 chr17:59963227-59963227;C/T missense_variant False RNFT1@p.K26N 1 0.121212121 ENSG00000189050 chr17:59963263-59963263;C/G missense_variant False RNFT1@p.I99T 1 0.278350515 ENSG00000189050 chr17:59963045-59963045;A/G missense_variant False RNF8@p.R89T 1 0.14379085 ENSG00000112130 chr6:37368509-37368509;G/C missense_variant False RNF8@p.E71K 1 0.12195122 ENSG00000112130 chr6:37360545-37360545;G/A missense_variant False RNF7@p.A60V 1 0.289473684 ENSG00000114125 chr3:141743512-141743512;C/T missense_variant False RNLS@p.Q53K 1 0.375 ENSG00000184719 chr10:88582269-88582269;G/T missense_variant False RNMT@p.D242N 1 0.160714286 ENSG00000101654 chr18:13740211-13740211;G/A missense_variant False RNMT@p.K80N 1 0.181818182 ENSG00000101654 chr18:13731757-13731757;G/T missense_variant False RNMT@p.Q124K 1 0.1875 ENSG00000101654 chr18:13731887-13731887;C/A missense_variant False RNMT@p.R107T 1 0.185185185 ENSG00000101654 chr18:13731837-13731837;G/C missense_variant False RNPC3@p.R458H 1 0.28358209 ENSG00000185946 chr1:103550952-103550952;G/A missense_variant False RNPEP@p.E506K 1 0.484848485 ENSG00000176393 chr1:202003326-202003326;G/A missense_variant False RNPEP@p.G279R 1 0.095454545 ENSG00000176393 chr1:201996244-201996244;G/A missense_variant False RNPEPL1@p.I557M 1 0.61 ENSG00000142327 chr2:240576695-240576695;C/G missense_variant False RNPS1@p.G185R 1 0.298701299 ENSG00000205937 chr16:2262401-2262401;C/T missense_variant False RO60@p.A392T 1 0.295774648 ENSG00000116747 chr1:193081451-193081451;G/A missense_variant False RO60@p.E72Q 1 0.12345679 ENSG00000116747 chr1:193069268-193069268;G/C missense_variant False RO60@p.S380C 1 0.454545455 ENSG00000116747 chr1:193081416-193081416;C/G missense_variant False RO60@p.S503L 1 0.055555556 ENSG00000116747 chr1:193084622-193084622;C/T missense_variant False ROBO1@p.D65H 1 0.311688312 ENSG00000169855 chr3:78938907-78938907;C/G missense_variant False ROBO1@p.E1412Q 1 0.238095238 ENSG00000169855 chr3:78617683-78617683;C/G missense_variant False ROBO1@p.E1629Q 1 0.260869565 ENSG00000169855 chr3:78600169-78600169;C/G missense_variant False RNF6@p.Y40C 1 0.306122449 ENSG00000127870 chr13:26219531-26219531;T/C missense_variant False RNF6@p.E32Q 1 0.305343511 ENSG00000127870 chr13:26219556-26219556;C/G missense_variant False RNF31@p.D755E 1 0.161290323 ENSG00000092098 chr14:24155291-24155291;C/A missense_variant False RNF32@p.P87R 1 0.170454545 ENSG00000105982 chr7:156644743-156644743;C/G missense_variant False RNF39@p.V147M 1 1.0 ENSG00000204618 chr6:30075351-30075351;C/T missense_variant False RNF39@p.R225K 1 0.387323944 ENSG00000204618 chr6:30073165-30073165;C/T missense_variant False RNF39@p.K14N 1 0.074285714 ENSG00000204618 chr6:30075748-30075748;C/G missense_variant False RNF39@p.A30V 1 0.260504202 ENSG00000204618 chr6:30075701-30075701;G/A missense_variant False RNF34@p.Q111E 1 0.384615385 ENSG00000170633 chr12:121417609-121417609;C/G missense_variant False RNF32@p.W197C 1 0.384615385 ENSG00000105982 chr7:156658477-156658477;G/T missense_variant False RNF31@p.R327Q 1 0.564102564 ENSG00000092098 chr14:24150231-24150231;G/A missense_variant False RNF5@p.V38L 1 0.228070175 ENSG00000204308 chr6:32178623-32178623;G/T missense_variant False RNF31@p.P818S 1 0.146853147 ENSG00000092098 chr14:24155651-24155651;C/T missense_variant False RNF31@p.E567K 1 0.323943662 ENSG00000092098 chr14:24151341-24151341;G/A missense_variant False RNF31@p.E477K 1 0.966666667 ENSG00000092098 chr14:24150829-24150829;G/A missense_variant False RNF31@p.E346Q 1 0.277777778 ENSG00000092098 chr14:24150287-24150287;G/C missense_variant False RNF31@p.E337K 1 0.925 ENSG00000092098 chr14:24150260-24150260;G/A missense_variant False RNF31@p.E183K 1 0.072164948 ENSG00000092098 chr14:24148693-24148693;G/A missense_variant False RNF40@p.E61K 1 0.333333333 ENSG00000103549 chr16:30763166-30763166;G/A missense_variant False RNF40@p.K719N 1 0.663636364 ENSG00000103549 chr16:30768897-30768897;G/C missense_variant False RNF40@p.L138V 1 0.267605634 ENSG00000103549 chr16:30763529-30763529;C/G missense_variant False RNF40@p.P566A 1 0.222222222 ENSG00000103549 chr16:30768247-30768247;C/G missense_variant False RNF40@p.R973L 1 0.038251366 ENSG00000103549 chr16:30774026-30774026;G/T missense_variant False RNF40@p.S119F 1 0.408450704 ENSG00000103549 chr16:30763473-30763473;C/T missense_variant False RNF40@p.S188C 1 0.204545455 ENSG00000103549 chr16:30764299-30764299;C/G missense_variant False RNF41@p.E263D 1 0.266666667 ENSG00000181852 chr12:56206612-56206612;C/G missense_variant False RNF43@p.A394V 1 0.181818182 ENSG00000108375 chr17:58358595-58358595;G/A missense_variant True RNF43@p.A73V 1 0.209677419 ENSG00000108375 chr17:58415360-58415360;G/A missense_variant True RNF43@p.Q305K 1 0.181102362 ENSG00000108375 chr17:58360188-58360188;G/T missense_variant True RNF43@p.Y248H 1 0.116666667 ENSG00000108375 chr17:58360890-58360890;A/G missense_variant True RNF44@p.D328H 1 0.545454545 ENSG00000146083 chr5:176529763-176529763;C/G missense_variant False RNF44@p.P136L 1 0.333333333 ENSG00000146083 chr5:176531521-176531521;G/A missense_variant False RNF44@p.S14F 1 0.266666667 ENSG00000146083 chr5:176532432-176532432;G/A missense_variant False RNF4@p.S66C 1 0.25 ENSG00000063978 chr4:2500731-2500731;C/G missense_variant False RNF5@p.H52Y 1 0.354618016 ENSG00000204308 chr6:32179554-32179554;C/T missense_variant False RNF213@p.A3262T 1 0.223684211 ENSG00000173821 chr17:80348119-80348119;G/A missense_variant False RNF208@p.R190C 1 0.833333333 ENSG00000212864 chr9:137220645-137220645;G/A missense_variant False RNF111@p.T168N 1 0.25 ENSG00000157450 chr15:59031325-59031325;C/A missense_variant False RNF139@p.G481A 1 0.24137931 ENSG00000170881 chr8:124487091-124487091;G/C missense_variant False RNF13@p.E342Q 1 0.340425532 ENSG00000082996 chr3:149960982-149960982;G/C missense_variant False RNF13@p.E328K 1 0.270588235 ENSG00000082996 chr3:149960940-149960940;G/A missense_variant False RNF13@p.D297N 1 0.235294118 ENSG00000082996 chr3:149960847-149960847;G/A missense_variant False RNF13@p.D268H 1 0.118644068 ENSG00000082996 chr3:149960760-149960760;G/C missense_variant False RNF139@p.R645T 1 0.289473684 ENSG00000170881 chr8:124487583-124487583;G/C missense_variant False RNF139@p.I508M 1 0.117977528 ENSG00000170881 chr8:124487173-124487173;C/G missense_variant False RNF139@p.D594N 1 0.185185185 ENSG00000170881 chr8:124487429-124487429;G/A missense_variant False RNF130@p.E269K 1 0.28 ENSG00000113269 chr5:179978246-179978246;C/T missense_variant False RNF138@p.S115F 1 0.380952381 ENSG00000134758 chr18:32113812-32113812;C/T missense_variant False RNF138@p.S115C 1 0.324324324 ENSG00000134758 chr18:32113812-32113812;C/G missense_variant False RNF135@p.Q301E 1 0.0875 ENSG00000181481 chr17:30998793-30998793;C/G missense_variant False RNF135@p.E273K 1 0.338888889 ENSG00000181481 chr17:30998709-30998709;G/A missense_variant False RNF135@p.E133K 1 0.242857143 ENSG00000181481 chr17:30984641-30984641;G/A missense_variant False RNF133@p.E79Q 1 0.290540541 ENSG00000188050 chr7:122698684-122698684;C/G missense_variant False RNF13@p.V148F 1 0.565217391 ENSG00000082996 chr3:149902104-149902104;G/T missense_variant False RNF141@p.D128Y 1 0.136 ENSG00000110315 chr11:10525244-10525244;C/A missense_variant False RNF141@p.E200K 1 0.438202247 ENSG00000110315 chr11:10515011-10515011;C/T missense_variant False RNF141@p.P17S 1 0.197802198 ENSG00000110315 chr11:10534110-10534110;G/A missense_variant False RNF144A@p.K94E 1 0.25 ENSG00000151692 chr2:7014751-7014751;A/G missense_variant False RNF144A@p.P161R 1 0.288888889 ENSG00000151692 chr2:7020653-7020653;C/G missense_variant False RNF144A@p.S217F 1 0.2125 ENSG00000151692 chr2:7024509-7024509;C/T missense_variant False RNF145@p.L419V 1 0.239130435 ENSG00000145860 chr5:159162946-159162946;G/C missense_variant False RNF145@p.M399I 1 0.442622951 ENSG00000145860 chr5:159163004-159163004;C/A missense_variant False RNF145@p.P18L 1 0.108108108 ENSG00000145860 chr5:159203565-159203565;G/A missense_variant False RNF148@p.L25V 1 0.147058824 ENSG00000235631 chr7:122702678-122702678;G/C missense_variant False RNF149@p.D86Y 1 0.433333333 ENSG00000163162 chr2:101308333-101308333;C/A missense_variant False RNF149@p.E36K 1 0.285714286 ENSG00000163162 chr2:101308483-101308483;C/T missense_variant False RNF149@p.L344F 1 0.26 ENSG00000163162 chr2:101281986-101281986;C/G missense_variant False RNF14@p.E281Q 1 0.465753425 ENSG00000013561 chr5:141980129-141980129;G/C missense_variant False RNF150@p.E35K 1 0.265625 ENSG00000170153 chr4:141132706-141132706;C/T missense_variant False RNF150@p.G196E 1 0.734513274 ENSG00000170153 chr4:140967771-140967771;C/T missense_variant False RNF133@p.E353K 1 0.303921569 ENSG00000188050 chr7:122697862-122697862;C/T missense_variant False RNF128@p.T361Dfs*14 1 0.141176471 ENSG00000133135 chrX:106791159-106791160;-/A frameshift_variant False RNF152@p.S125T 1 0.75 ENSG00000176641 chr18:61816090-61816090;C/G missense_variant False RNF113B@p.E119K 1 0.383333333 ENSG00000139797 chr13:98176882-98176882;C/T missense_variant False RNF121@p.E31Q 1 0.185714286 ENSG00000137522 chr11:71957254-71957254;G/C missense_variant False RNF121@p.E31K 1 0.16 ENSG00000137522 chr11:71957254-71957254;G/A missense_variant False RNF11@p.Q20E 1 0.902439024 ENSG00000123091 chr1:51236814-51236814;C/G missense_variant False RNF114@p.V78L 1 0.201149425 ENSG00000124226 chr20:49941652-49941652;G/T missense_variant False RNF114@p.N218D 1 0.101123596 ENSG00000124226 chr20:49952106-49952106;A/G missense_variant False RNF113B@p.G170E 1 0.179487179 ENSG00000139797 chr13:98176728-98176728;C/T missense_variant False RNF113A@p.S105L 1 0.864978903 ENSG00000125352 chrX:119871300-119871300;G/A missense_variant False RNF128@p.R232Q 1 0.547169811 ENSG00000133135 chrX:106773123-106773123;G/A missense_variant False RNF112@p.S69L 1 0.348837209 ENSG00000128482 chr17:19412608-19412608;C/T missense_variant False RNF112@p.S484C 1 0.19047619 ENSG00000128482 chr17:19415730-19415730;C/G missense_variant False RNF112@p.R624Q 1 0.285714286 ENSG00000128482 chr17:19416150-19416150;G/A missense_variant False RNF112@p.R14G 1 0.307692308 ENSG00000128482 chr17:19411448-19411448;C/G missense_variant False RNF112@p.L558F 1 0.388888889 ENSG00000128482 chr17:19415951-19415951;C/T missense_variant False RNF112@p.L505M 1 0.361111111 ENSG00000128482 chr17:19415792-19415792;C/A missense_variant False RNF121@p.R291K 1 0.186046512 ENSG00000137522 chr11:71996203-71996203;G/A missense_variant False RNF123@p.E22Q 1 0.333333333 ENSG00000164068 chr3:49691229-49691229;G/C missense_variant False RNF123@p.E778K 1 0.31147541 ENSG00000164068 chr3:49706009-49706009;G/A missense_variant False RNF123@p.E995K 1 0.119047619 ENSG00000164068 chr3:49714147-49714147;G/A missense_variant False RNF123@p.F1289C 1 0.544378698 ENSG00000164068 chr3:49721226-49721226;T/G missense_variant False RNF123@p.L904V 1 0.25 ENSG00000164068 chr3:49713548-49713548;C/G missense_variant False RNF123@p.S1263C 1 0.333333333 ENSG00000164068 chr3:49721069-49721069;C/G missense_variant False RNF123@p.S540N 1 0.052816901 ENSG00000164068 chr3:49702395-49702395;G/A missense_variant False RNF123@p.S563C 1 0.302631579 ENSG00000164068 chr3:49702691-49702691;C/G missense_variant False RNF123@p.V661A 1 0.571428571 ENSG00000164068 chr3:49705006-49705006;T/C missense_variant False RNF125@p.A21Gfs*22 1 0.24 ENSG00000101695 chr18:32018921-32018922;-/G frameshift_variant False RNF125@p.S16F 1 0.290322581 ENSG00000101695 chr18:32018910-32018910;C/T missense_variant False RNF126@p.G201C 1 0.25 ENSG00000070423 chr19:648951-648951;C/A missense_variant False RNF128@p.E354K 1 0.066666667 ENSG00000133135 chrX:106791141-106791141;G/A missense_variant False RNF128@p.E83K 1 0.4375 ENSG00000133135 chrX:106694249-106694249;G/A missense_variant False RNF128@p.K88N 1 0.65625 ENSG00000133135 chrX:106694266-106694266;G/C missense_variant False RNF128@p.L388V 1 0.462962963 ENSG00000133135 chrX:106795588-106795588;C/G missense_variant False RNF150@p.T368I 1 0.193548387 ENSG00000170153 chr4:140911239-140911239;G/A missense_variant False RNF152@p.S194C 1 0.051282051 ENSG00000176641 chr18:61815883-61815883;G/C missense_variant False RNF208@p.L16F 1 0.277777778 ENSG00000212864 chr9:137221167-137221167;G/A missense_variant False RNF181@p.K56N 1 0.418181818 ENSG00000168894 chr2:85596600-85596600;G/T missense_variant False RNF185@p.Q111E 1 0.128205128 ENSG00000138942 chr22:31196958-31196958;C/G missense_variant False RNF185@p.E13D 1 0.126760563 ENSG00000138942 chr22:31187133-31187133;G/C missense_variant False RNF183@p.G95V 1 0.548076923 ENSG00000165188 chr9:113297901-113297901;C/A missense_variant False RNF182@p.S57F 1 0.145833333 ENSG00000180537 chr6:13977289-13977289;C/T missense_variant False RNF182@p.S12C 1 0.314814815 ENSG00000180537 chr6:13977154-13977154;C/G missense_variant False RNF182@p.D53H 1 0.059139785 ENSG00000180537 chr6:13977276-13977276;G/C missense_variant False RNF181@p.E11K 1 0.515151515 ENSG00000168894 chr2:85595794-85595794;G/A missense_variant False RNF17@p.R1012T 1 0.25 ENSG00000132972 chr13:24845013-24845013;G/C missense_variant False RNF180@p.S360L 1 0.166666667 ENSG00000164197 chr5:64214405-64214405;C/T missense_variant False RNF180@p.S337L 1 0.25 ENSG00000164197 chr5:64214336-64214336;C/T missense_variant False RNF180@p.M62I 1 0.166666667 ENSG00000164197 chr5:64212115-64212115;G/A missense_variant False RNF180@p.H225N 1 0.4125 ENSG00000164197 chr5:64213999-64213999;C/A missense_variant False RNF180@p.E315Q 1 0.6 ENSG00000164197 chr5:64214269-64214269;G/C missense_variant False RNF180@p.A338T 1 0.551724138 ENSG00000164197 chr5:64214338-64214338;G/A missense_variant False RNF185@p.S7L 1 0.100671141 ENSG00000138942 chr22:31187114-31187114;C/T missense_variant False RNF186@p.C215Y 1 0.172413793 ENSG00000178828 chr1:19814458-19814458;C/T missense_variant False RNF186@p.S79T 1 0.592105263 ENSG00000178828 chr1:19814867-19814867;A/T missense_variant False RNF19A@p.A432T 1 0.137440758 ENSG00000034677 chr8:100264683-100264683;C/T missense_variant False RNF19A@p.E131K 1 0.203225806 ENSG00000034677 chr8:100287784-100287784;C/T missense_variant False RNF19A@p.H151D 1 0.11971831 ENSG00000034677 chr8:100287724-100287724;G/C missense_variant False RNF19A@p.I480V 1 0.068421053 ENSG00000034677 chr8:100264064-100264064;T/C missense_variant False RNF19A@p.R160Q 1 0.691860465 ENSG00000034677 chr8:100287696-100287696;C/T missense_variant False RNF19A@p.R456Q 1 0.333333333 ENSG00000034677 chr8:100264135-100264135;C/T missense_variant False RNF19A@p.S10C 1 0.327272727 ENSG00000034677 chr8:100288146-100288146;G/C missense_variant False RNF19A@p.S50F 1 0.153846154 ENSG00000034677 chr8:100288026-100288026;G/A missense_variant False RNF19A@p.S664F 1 0.25 ENSG00000034677 chr8:100259082-100259082;G/A missense_variant False RNF19A@p.S785C 1 0.5 ENSG00000034677 chr8:100258719-100258719;G/C missense_variant False RNF19B@p.A217V 1 0.410714286 ENSG00000116514 chr1:32949760-32949760;G/A missense_variant False RNF19B@p.K547N 1 0.289156627 ENSG00000116514 chr1:32938501-32938501;C/G missense_variant False RNF207@p.D55N 1 0.451612903 ENSG00000158286 chr1:6206698-6206698;G/A missense_variant False RNF207@p.E308Q 1 0.053333333 ENSG00000158286 chr1:6210418-6210418;G/C missense_variant False RNF17@p.R482G 1 0.067164179 ENSG00000132972 chr13:24799439-24799439;C/G missense_variant False RNF17@p.N1468T 1 0.306666667 ENSG00000132972 chr13:24870695-24870695;A/C missense_variant False RNF157@p.E195K 1 0.481927711 ENSG00000141576 chr17:76166506-76166506;C/T missense_variant False RNF167@p.S344C 1 0.27027027 ENSG00000108523 chr17:4944994-4944994;C/G missense_variant False RNF168@p.R180T 1 0.241626794 ENSG00000163961 chr3:196487418-196487418;C/G missense_variant False RNF168@p.Q226E 1 0.179487179 ENSG00000163961 chr3:196483774-196483774;G/C missense_variant False RNF168@p.L3V 1 0.212765957 ENSG00000163961 chr3:196503167-196503167;G/C missense_variant False RNF168@p.K524N 1 0.478527607 ENSG00000163961 chr3:196471963-196471963;C/G missense_variant False RNF168@p.E422K 1 0.445 ENSG00000163961 chr3:196472271-196472271;C/T missense_variant False RNF168@p.D458N 1 0.282352941 ENSG00000163961 chr3:196472163-196472163;C/T missense_variant False RNF166@p.D82Y 1 0.129032258 ENSG00000158717 chr16:88701330-88701330;C/A missense_variant False RNF17@p.N1017Ifs*2 1 0.140350877 ENSG00000132972 chr13:24845025-24845025;A/- frameshift_variant False RNF165@p.S233F 1 0.169491525 ENSG00000141622 chr18:46450378-46450378;C/T missense_variant False RNF165@p.G285R 1 0.446808511 ENSG00000141622 chr18:46456010-46456010;G/A missense_variant False RNF157@p.M328I 1 0.386363636 ENSG00000141576 chr17:76161616-76161616;C/T missense_variant False RNF157@p.E596K 1 0.275590551 ENSG00000141576 chr17:76154307-76154307;C/T missense_variant False RNF157@p.E480K 1 0.146666667 ENSG00000141576 chr17:76156297-76156297;C/T missense_variant False RNF157@p.E223Q 1 0.085201794 ENSG00000141576 chr17:76165507-76165507;C/G missense_variant False RNF169@p.E370Q 1 0.221518987 ENSG00000166439 chr11:74835711-74835711;G/C missense_variant False RNF169@p.E425Q 1 0.215277778 ENSG00000166439 chr11:74835876-74835876;G/C missense_variant False RNF169@p.F171L 1 0.063380282 ENSG00000166439 chr11:74789636-74789636;C/G missense_variant False RNF169@p.H503Y 1 0.129251701 ENSG00000166439 chr11:74836110-74836110;C/T missense_variant False RNF169@p.S506C 1 0.288043478 ENSG00000166439 chr11:74836120-74836120;C/G missense_variant False RNF169@p.S531F 1 0.052631579 ENSG00000166439 chr11:74836195-74836195;C/T missense_variant False RNF170@p.L11F 1 0.111111111 ENSG00000120925 chr8:42887832-42887832;C/G missense_variant False RNF175@p.R79P 1 0.181818182 ENSG00000145428 chr4:153748655-153748655;C/G missense_variant False RNF17@p.A642V 1 0.436170213 ENSG00000132972 chr13:24802547-24802547;C/T missense_variant False RNF17@p.D1604N 1 0.20754717 ENSG00000132972 chr13:24879223-24879223;G/A missense_variant False RNF17@p.E1184Q 1 0.14893617 ENSG00000132972 chr13:24854084-24854084;G/C missense_variant False RNF17@p.E1213K 1 0.48 ENSG00000132972 chr13:24859027-24859027;G/A missense_variant False RNF17@p.E232Q 1 0.571428571 ENSG00000132972 chr13:24788070-24788070;G/C missense_variant False RNF17@p.I1308T 1 0.353383459 ENSG00000132972 chr13:24862741-24862741;T/C missense_variant False RNF17@p.I672V 1 0.119047619 ENSG00000132972 chr13:24804352-24804352;A/G missense_variant False RNF17@p.L1004V 1 0.333333333 ENSG00000132972 chr13:24844988-24844988;C/G missense_variant False RNF17@p.L843V 1 0.095238095 ENSG00000132972 chr13:24842085-24842085;C/G missense_variant False RSL1D1@p.E301D 1 0.365384615 ENSG00000171490 chr16:11839938-11839938;C/G missense_variant False RSL1D1@p.K395N 1 0.04494382 ENSG00000171490 chr16:11838075-11838075;C/G missense_variant False RICTOR@p.F1085L 1 0.18627451 ENSG00000164327 chr5:38950593-38950593;G/T missense_variant False SBF1@p.E1148Q 1 0.096385542 ENSG00000100241 chr22:50460001-50460001;C/G missense_variant False SBF2@p.C525F 1 0.219512195 ENSG00000133812 chr11:9968367-9968367;C/A missense_variant False SBF1@p.R935G 1 0.8 ENSG00000100241 chr22:50461559-50461559;G/C missense_variant False SBF1@p.R1867C 1 0.205882353 ENSG00000100241 chr22:50447225-50447225;G/A missense_variant False SBF1@p.R1866H 1 0.361111111 ENSG00000100241 chr22:50447227-50447227;C/T missense_variant False SBF1@p.L410R 1 0.269230769 ENSG00000100241 chr22:50465104-50465104;A/C missense_variant False SBF1@p.F1490L 1 0.161290323 ENSG00000100241 chr22:50455308-50455308;G/C missense_variant False SBF1@p.A960V 1 0.621621622 ENSG00000100241 chr22:50461247-50461247;G/A missense_variant False SBF2@p.D933Y 1 0.923809524 ENSG00000133812 chr11:9850032-9850032;C/A missense_variant False SBF1@p.A1675G 1 0.390243902 ENSG00000100241 chr22:50454531-50454531;G/C missense_variant False SBDS@p.T129I 1 0.148351648 ENSG00000126524 chr7:66993290-66993290;G/A missense_variant False SBDS@p.M165I 1 0.298850575 ENSG00000126524 chr7:66991266-66991266;C/T missense_variant False SBDS@p.K125N 1 0.155115512 ENSG00000126524 chr7:66993301-66993301;C/G missense_variant False SBDS@p.E69K 1 0.097046414 ENSG00000126524 chr7:66994265-66994265;C/T missense_variant False SBDS@p.E227G 1 0.265625 ENSG00000126524 chr7:66988444-66988444;T/C missense_variant False SBF2@p.D1630N 1 0.318181818 ENSG00000133812 chr11:9789153-9789153;C/T missense_variant False SBF2@p.E103K 1 0.062893082 ENSG00000133812 chr11:10031143-10031143;C/T missense_variant False RSL1D1@p.Q175E 1 0.235135135 ENSG00000171490 chr16:11846705-11846705;G/C missense_variant False SBK1@p.D226N 1 0.230769231 ENSG00000188322 chr16:28320322-28320322;G/A missense_variant False SBNO1@p.E227K 1 0.121212121 ENSG00000139697 chr12:123336464-123336464;C/T missense_variant False SBNO1@p.E1014Q 1 0.120481928 ENSG00000139697 chr12:123315556-123315556;C/G missense_variant False SBNO1@p.D27H 1 0.205 ENSG00000139697 chr12:123350363-123350363;C/G missense_variant False SBNO1@p.D273G 1 0.238095238 ENSG00000139697 chr12:123334144-123334144;T/C missense_variant False SBNO1@p.D225H 1 0.296296296 ENSG00000139697 chr12:123336470-123336470;C/G missense_variant False SBK2@p.E7K 1 0.28358209 ENSG00000187550 chr19:55536276-55536276;C/T missense_variant False SBF2@p.S1722F 1 0.151162791 ENSG00000133812 chr11:9785191-9785191;G/A missense_variant False SBF2@p.E1091D 1 0.207317073 ENSG00000133812 chr11:9839680-9839680;C/G missense_variant False SBF2@p.H380Y 1 0.279069767 ENSG00000133812 chr11:9993019-9993019;G/A missense_variant False SBF2@p.H1295Y 1 0.175675676 ENSG00000133812 chr11:9816935-9816935;G/A missense_variant False SBF2@p.F1555L 1 0.427419355 ENSG00000133812 chr11:9790589-9790589;G/T missense_variant False SBF2@p.E1747Q 1 0.214285714 ENSG00000133812 chr11:9784431-9784431;C/G missense_variant False SBF2@p.E1532Q 1 0.37037037 ENSG00000133812 chr11:9790660-9790660;C/G missense_variant False SBF2@p.E1230K 1 0.053435115 ENSG00000133812 chr11:9829461-9829461;C/T missense_variant False SAYSD1@p.G66S 1 0.246153846 ENSG00000112167 chr6:39114894-39114894;C/T missense_variant False SAYSD1@p.G140D 1 0.151111111 ENSG00000112167 chr6:39105565-39105565;C/T missense_variant False SAYSD1@p.G122D 1 0.370689655 ENSG00000112167 chr6:39105619-39105619;C/T missense_variant False SASH1@p.Q1218K 1 0.160714286 ENSG00000111961 chr6:148548466-148548466;C/A missense_variant False SASH3@p.M91T 1 0.341463415 ENSG00000122122 chrX:129788549-129788549;T/C missense_variant False SASH3@p.D183N 1 0.944444444 ENSG00000122122 chrX:129792432-129792432;G/A missense_variant False SASH1@p.S901Y 1 0.231788079 ENSG00000111961 chr6:148544172-148544172;C/A missense_variant False SASH1@p.S486C 1 0.13559322 ENSG00000111961 chr6:148531554-148531554;C/G missense_variant False SASH1@p.S1199F 1 0.184210526 ENSG00000111961 chr6:148548410-148548410;C/T missense_variant False SASH1@p.Q191E 1 0.318181818 ENSG00000111961 chr6:148474166-148474166;C/G missense_variant False SASH1@p.L450V 1 0.226804124 ENSG00000111961 chr6:148527516-148527516;C/G missense_variant False SAXO2@p.E226D 1 0.25 ENSG00000188659 chr15:82282543-82282543;A/T missense_variant False SASH1@p.I1222T 1 0.058823529 ENSG00000111961 chr6:148548479-148548479;T/C missense_variant False SASH1@p.G1074S 1 0.434782609 ENSG00000111961 chr6:148544690-148544690;G/A missense_variant False SART3@p.R469L 1 0.326086957 ENSG00000075856 chr12:108536743-108536743;C/A missense_variant False SART3@p.H539R 1 0.348837209 ENSG00000075856 chr12:108532329-108532329;T/C missense_variant False SART3@p.E28K 1 0.117241379 ENSG00000075856 chr12:108561073-108561073;C/T missense_variant False SART3@p.A948G 1 0.825396825 ENSG00000075856 chr12:108523560-108523560;G/C missense_variant False SAT2@p.E152K 1 0.131034483 ENSG00000141504 chr17:7626506-7626506;C/T missense_variant False SAT2@p.E99K 1 0.426229508 ENSG00000141504 chr17:7626952-7626952;C/T missense_variant False SAT2@p.F51L 1 0.06557377 ENSG00000141504 chr17:7627192-7627192;G/C missense_variant False SATB1@p.A573V 1 0.109929078 ENSG00000182568 chr3:18352053-18352053;G/A missense_variant False SATB1@p.D195N 1 0.088235294 ENSG00000182568 chr3:18415167-18415167;C/T missense_variant False SATB1@p.D248H 1 0.346666667 ENSG00000182568 chr3:18397188-18397188;C/G missense_variant False SATB1@p.H171R 1 0.226027397 ENSG00000182568 chr3:18416010-18416010;T/C missense_variant False SATB1@p.R623W 1 0.389830508 ENSG00000182568 chr3:18349595-18349595;G/A missense_variant False SATB2@p.P548L 1 0.278145695 ENSG00000119042 chr2:199308857-199308857;G/A missense_variant False SATB2@p.Q642H 1 0.192307692 ENSG00000119042 chr2:199272487-199272487;C/A missense_variant False SATB2@p.R431H 1 0.2 ENSG00000119042 chr2:199328792-199328792;C/T missense_variant False SATB2@p.S160P 1 0.916666667 ENSG00000119042 chr2:199380483-199380483;A/G missense_variant False SATB2@p.S299C 1 0.152866242 ENSG00000119042 chr2:199348978-199348978;G/C missense_variant False SATB2@p.S617F 1 0.25 ENSG00000119042 chr2:199272563-199272563;G/A missense_variant False SATB2@p.Y711C 1 0.531914894 ENSG00000119042 chr2:199272281-199272281;T/C missense_variant False SATL1@p.I74V 1 0.261437908 ENSG00000184788 chrX:85108188-85108188;T/C missense_variant False SAXO1@p.R170K 1 0.526315789 ENSG00000155875 chr9:18928968-18928968;C/T missense_variant False SBNO1@p.E240Q 1 0.175 ENSG00000139697 chr12:123336425-123336425;C/G missense_variant False SBNO1@p.E306K 1 0.31884058 ENSG00000139697 chr12:123331369-123331369;C/T missense_variant False SBNO1@p.L1250V 1 0.388059701 ENSG00000139697 chr12:123304602-123304602;G/C missense_variant False SCAF4@p.E640K 1 0.231707317 ENSG00000156304 chr21:31688432-31688432;C/T missense_variant False SCAF4@p.M886V 1 0.157894737 ENSG00000156304 chr21:31672187-31672187;T/C missense_variant False SCAF4@p.L875F 1 0.242718447 ENSG00000156304 chr21:31672218-31672218;C/G missense_variant False SCAF4@p.H757Q 1 0.151898734 ENSG00000156304 chr21:31685423-31685423;G/C missense_variant False SCAF4@p.G806S 1 0.224489796 ENSG00000156304 chr21:31685121-31685121;C/T missense_variant False SCAF4@p.G324A 1 0.192592593 ENSG00000156304 chr21:31696210-31696210;C/G missense_variant False SCAF4@p.F700L 1 0.124031008 ENSG00000156304 chr21:31685677-31685677;G/C missense_variant False SCAF4@p.E610Q 1 0.215384615 ENSG00000156304 chr21:31690854-31690854;C/G missense_variant False SCAF1@p.R363W 1 0.384615385 ENSG00000126461 chr19:49651476-49651476;C/T missense_variant False SCAF4@p.E480Q 1 0.511627907 ENSG00000156304 chr21:31693369-31693369;C/G missense_variant False SCAF4@p.E1128K 1 0.272727273 ENSG00000156304 chr21:31671461-31671461;C/T missense_variant False SCAF4@p.E1048Q 1 0.151315789 ENSG00000156304 chr21:31671701-31671701;C/G missense_variant False SCAF4@p.D82H 1 0.149606299 ENSG00000156304 chr21:31703842-31703842;C/G missense_variant False SCAF4@p.D269N 1 0.15 ENSG00000156304 chr21:31696723-31696723;C/T missense_variant False SCAF1@p.S674W 1 0.324324324 ENSG00000126461 chr19:49652410-49652410;C/G missense_variant False SCAF4@p.R453G 1 0.695652174 ENSG00000156304 chr21:31693450-31693450;T/C missense_variant False SCAF4@p.R463Q 1 0.307692308 ENSG00000156304 chr21:31693419-31693419;C/T missense_variant False SCAF4@p.R74C 1 0.294117647 ENSG00000156304 chr21:31703866-31703866;G/A missense_variant False SCAF4@p.S1004Y 1 0.482352941 ENSG00000156304 chr21:31671832-31671832;G/T missense_variant False SCAF8@p.D791N 1 0.196078431 ENSG00000213079 chr6:154831950-154831950;G/A missense_variant False SCAF8@p.L356F 1 0.20610687 ENSG00000213079 chr6:154808154-154808154;C/T missense_variant False SCAF8@p.P167Q 1 0.233082707 ENSG00000213079 chr6:154795033-154795033;C/A missense_variant False SCAF8@p.S956L 1 0.416666667 ENSG00000213079 chr6:154832446-154832446;C/T missense_variant False SCAF8@p.T1271A 1 0.606060606 ENSG00000213079 chr6:154833390-154833390;A/G missense_variant False SCAI@p.D379H 1 0.074712644 ENSG00000173611 chr9:125001974-125001974;C/G missense_variant False SCAI@p.D593N 1 0.944444444 ENSG00000173611 chr9:124952851-124952851;C/T missense_variant False SCAI@p.E125Q 1 0.08 ENSG00000173611 chr9:125028432-125028432;C/G missense_variant False SCAI@p.E173K 1 0.211267606 ENSG00000173611 chr9:125020765-125020765;C/T missense_variant False SCAI@p.E381K 1 0.219409283 ENSG00000173611 chr9:125001968-125001968;C/T missense_variant False SCAI@p.R160Ifs*8 1 0.17721519 ENSG00000173611 chr9:125026844-125026845;TC/- frameshift_variant False SCAI@p.R508Q 1 0.198473282 ENSG00000173611 chr9:124971721-124971721;C/T missense_variant False SCAMP3@p.Q3H 1 0.382352941 ENSG00000116521 chr1:155262143-155262143;C/G missense_variant False SCAF1@p.R770Q 1 0.444444444 ENSG00000126461 chr19:49652698-49652698;G/A missense_variant False SCAF1@p.E360K 1 0.6875 ENSG00000126461 chr19:49651467-49651467;G/A missense_variant False SBNO1@p.L1348F 1 0.357894737 ENSG00000139697 chr12:123296046-123296046;C/G missense_variant False SBNO1@p.S768C 1 0.336633663 ENSG00000139697 chr12:123321555-123321555;G/C missense_variant False SBSPON@p.Q54H 1 0.265306122 ENSG00000164764 chr8:73092906-73092906;T/G missense_variant False SBSPON@p.Q241E 1 0.073770492 ENSG00000164764 chr8:73067415-73067415;G/C missense_variant False SBNO2@p.M430V 1 0.470588235 ENSG00000064932 chr19:1119601-1119601;T/C missense_variant False SBNO2@p.D138N 1 0.227848101 ENSG00000064932 chr19:1127633-1127633;C/T missense_variant False SBNO2@p.D137N 1 0.07079646 ENSG00000064932 chr19:1127636-1127636;C/T missense_variant False SBNO1@p.Y1304F 1 0.333333333 ENSG00000139697 chr12:123298106-123298106;T/A missense_variant False SBNO1@p.S410F 1 0.430107527 ENSG00000139697 chr12:123328801-123328801;G/A missense_variant False SCAF1@p.E13K 1 0.073170732 ENSG00000126461 chr19:49645063-49645063;G/A missense_variant False SBNO1@p.S1208L 1 0.128440367 ENSG00000139697 chr12:123309317-123309317;G/A missense_variant False SBNO1@p.R343T 1 0.051948052 ENSG00000139697 chr12:123331257-123331257;C/G missense_variant False SBNO1@p.Q1333H 1 0.085714286 ENSG00000139697 chr12:123298018-123298018;C/G missense_variant False SBNO1@p.P97T 1 0.163043478 ENSG00000139697 chr12:123345519-123345519;G/T missense_variant False SBNO1@p.M1050I 1 0.487804878 ENSG00000139697 chr12:123313690-123313690;C/G missense_variant False SBNO1@p.L804S 1 0.153846154 ENSG00000139697 chr12:123320779-123320779;A/G missense_variant False SC5D@p.D26H 1 0.347368421 ENSG00000109929 chr11:121303451-121303451;G/C missense_variant False SCAF11@p.E1130Q 1 0.196969697 ENSG00000139218 chr12:45926313-45926313;C/G missense_variant False SCAF11@p.H279Q 1 0.19047619 ENSG00000139218 chr12:45931510-45931510;A/C missense_variant False SCAF11@p.I1391M 1 0.377777778 ENSG00000139218 chr12:45922535-45922535;G/C missense_variant False SCAF11@p.K1382R 1 0.432432432 ENSG00000139218 chr12:45922563-45922563;T/C missense_variant False SCAF11@p.L385S 1 0.359375 ENSG00000139218 chr12:45928547-45928547;A/G missense_variant False SCAF11@p.M1264K 1 0.411764706 ENSG00000139218 chr12:45924843-45924843;A/T missense_variant False SCAF11@p.P817S 1 0.214285714 ENSG00000139218 chr12:45927252-45927252;G/A missense_variant False SCAF11@p.Q661E 1 0.182795699 ENSG00000139218 chr12:45927720-45927720;G/C missense_variant False SCAF11@p.Q831E 1 0.358974359 ENSG00000139218 chr12:45927210-45927210;G/C missense_variant False SCAF11@p.Q86E 1 0.216494845 ENSG00000139218 chr12:45951691-45951691;G/C missense_variant False SCAF11@p.S1132L 1 0.243478261 ENSG00000139218 chr12:45926306-45926306;G/A missense_variant False SCAF11@p.S1271N 1 0.188034188 ENSG00000139218 chr12:45924822-45924822;C/T missense_variant False SCAF11@p.S128C 1 0.222222222 ENSG00000139218 chr12:45948452-45948452;G/C missense_variant False SCAF11@p.S1341L 1 0.182320442 ENSG00000139218 chr12:45923039-45923039;G/A missense_variant False SCAF11@p.S731C 1 0.246031746 ENSG00000139218 chr12:45927509-45927509;G/C missense_variant False SCAF1@p.D711N 1 0.592592593 ENSG00000126461 chr19:49652520-49652520;G/A missense_variant False SART3@p.A46E 1 0.1875 ENSG00000075856 chr12:108561018-108561018;G/T missense_variant False SART1@p.R8G 1 0.285714286 ENSG00000175467 chr11:65961802-65961802;C/G missense_variant False SART1@p.R8C 1 0.411764706 ENSG00000175467 chr11:65961802-65961802;C/T missense_variant False SAMD15@p.D515H 1 0.366071429 ENSG00000100583 chr14:77378961-77378961;G/C missense_variant False SAMD15@p.R179T 1 0.146341463 ENSG00000100583 chr14:77377954-77377954;G/C missense_variant False SAMD15@p.Q586H 1 0.302325581 ENSG00000100583 chr14:77380451-77380451;G/T missense_variant False SAMD15@p.P358S 1 0.2 ENSG00000100583 chr14:77378490-77378490;C/T missense_variant False SAMD15@p.L642F 1 0.152380952 ENSG00000100583 chr14:77391145-77391145;G/C missense_variant False SAMD15@p.E54K 1 0.366666667 ENSG00000100583 chr14:77377578-77377578;G/A missense_variant False SAMD15@p.E114K 1 0.245487365 ENSG00000100583 chr14:77377758-77377758;G/A missense_variant False SAMD14@p.S4L 1 0.24025974 ENSG00000167100 chr17:50124949-50124949;G/A missense_variant False SAMD13@p.M54V 1 0.373333333 ENSG00000203943 chr1:84325683-84325683;A/G missense_variant False SAMD14@p.S373F 1 0.159090909 ENSG00000167100 chr17:50113029-50113029;G/A missense_variant False SAMD14@p.G294R 1 0.22 ENSG00000167100 chr17:50114249-50114249;C/T missense_variant False SAMD14@p.E111K 1 0.285714286 ENSG00000167100 chr17:50117575-50117575;C/T missense_variant False SAMD14@p.D171E 1 0.48 ENSG00000167100 chr17:50116077-50116077;G/T missense_variant False SAMD14@p.A24T 1 0.53968254 ENSG00000167100 chr17:50118301-50118301;C/T missense_variant False SAMD13@p.V63M 1 0.218181818 ENSG00000203943 chr1:84325710-84325710;G/A missense_variant False SAMD15@p.S172L 1 0.505747126 ENSG00000100583 chr14:77377933-77377933;C/T missense_variant False SAMD3@p.M170I 1 0.117647059 ENSG00000164483 chr6:130184497-130184497;C/A missense_variant False SAMD3@p.N39S 1 0.523076923 ENSG00000164483 chr6:130214490-130214490;T/C missense_variant False SAMD3@p.Q516K 1 0.263157895 ENSG00000164483 chr6:130144537-130144537;G/T missense_variant False SAMD3@p.R233Q 1 0.533333333 ENSG00000164483 chr6:130175965-130175965;C/T missense_variant False SAMD3@p.R89G 1 0.241176471 ENSG00000164483 chr6:130214341-130214341;G/C missense_variant False SAMD4A@p.A25G 1 0.495049505 ENSG00000020577 chr14:54567990-54567990;C/G missense_variant False SAMD4A@p.D563H 1 0.116666667 ENSG00000020577 chr14:54770194-54770194;G/C missense_variant False SAMD4A@p.E213K 1 0.432098765 ENSG00000020577 chr14:54702502-54702502;G/A missense_variant False SAMD4A@p.R163Q 1 0.315217391 ENSG00000020577 chr14:54702353-54702353;G/A missense_variant False SAMD4A@p.R251P 1 0.339449541 ENSG00000020577 chr14:54737060-54737060;G/C missense_variant False SAMD4A@p.S658I 1 0.133574007 ENSG00000020577 chr14:54776469-54776469;G/T missense_variant False SAMD4B@p.E255Q 1 0.504021448 ENSG00000179134 chr19:39375745-39375745;G/C missense_variant False SAMD4B@p.E382K 1 0.168539326 ENSG00000179134 chr19:39377524-39377524;G/A missense_variant False SAMD4B@p.G257R 1 0.162303665 ENSG00000179134 chr19:39375751-39375751;G/C missense_variant False SAMD4B@p.G469E 1 0.06557377 ENSG00000179134 chr19:39377786-39377786;G/A missense_variant False SAMD4B@p.Q385H 1 0.404580153 ENSG00000179134 chr19:39377535-39377535;G/C missense_variant False SAMD13@p.R87T 1 0.09375 ENSG00000203943 chr1:84349665-84349665;G/C missense_variant False SAMD11@p.S52C 1 0.25 ENSG00000187634 chr1:930237-930237;C/G missense_variant False SAMD7@p.D197N 1 0.145454545 ENSG00000187033 chr3:169926851-169926851;G/A missense_variant False SALL2@p.A683T 1 0.305555556 ENSG00000165821 chr14:21523681-21523681;C/T missense_variant False SALL2@p.S259Y 1 0.302325581 ENSG00000165821 chr14:21524952-21524952;G/T missense_variant False SALL2@p.S104F 1 0.106382979 ENSG00000165821 chr14:21525417-21525417;G/A missense_variant False SALL2@p.S102F 1 0.150943396 ENSG00000165821 chr14:21525423-21525423;G/A missense_variant False SALL2@p.G148R 1 0.395683453 ENSG00000165821 chr14:21525286-21525286;C/T missense_variant False SALL2@p.F287L 1 0.375 ENSG00000165821 chr14:21524867-21524867;G/C missense_variant False SALL2@p.E892Q 1 0.076923077 ENSG00000165821 chr14:21523054-21523054;C/G missense_variant False SALL1@p.V433A 1 0.098837209 ENSG00000103449 chr16:51140924-51140924;A/G missense_variant False SAMD11@p.Q302H 1 0.181818182 ENSG00000187634 chr1:942172-942172;G/C missense_variant False SALL1@p.S961F 1 0.468085106 ENSG00000103449 chr16:51139340-51139340;G/A missense_variant False SALL1@p.S1302N 1 0.160714286 ENSG00000103449 chr16:51137182-51137182;C/T missense_variant False SALL1@p.R276Q 1 0.278481013 ENSG00000103449 chr16:51141395-51141395;C/T missense_variant False SALL1@p.R1128S 1 0.435897436 ENSG00000103449 chr16:51138838-51138838;C/G missense_variant False SALL1@p.Q107E 1 0.252427184 ENSG00000103449 chr16:51141903-51141903;G/C missense_variant False SALL1@p.P675A 1 0.12371134 ENSG00000103449 chr16:51140199-51140199;G/C missense_variant False SALL2@p.S873L 1 0.425531915 ENSG00000165821 chr14:21523110-21523110;G/A missense_variant False SALL2@p.T701I 1 0.403225806 ENSG00000165821 chr14:21523626-21523626;G/A missense_variant False SALL2@p.V444L 1 0.117647059 ENSG00000165821 chr14:21524398-21524398;C/G missense_variant False SALL3@p.D808E 1 0.193548387 ENSG00000256463 chr18:78994415-78994415;C/A missense_variant False SALL3@p.E54D 1 0.454545455 ENSG00000256463 chr18:78992153-78992153;G/C missense_variant False SALL3@p.L823V 1 0.333333333 ENSG00000256463 chr18:78994458-78994458;C/G missense_variant False SALL3@p.V518M 1 0.363636364 ENSG00000256463 chr18:78993543-78993543;G/A missense_variant False SALL4@p.A39V 1 0.192307692 ENSG00000101115 chr20:51802293-51802293;G/A missense_variant False SALL4@p.D1034N 1 0.232758621 ENSG00000101115 chr20:51784327-51784327;C/T missense_variant False SALL4@p.E936D 1 0.074380165 ENSG00000101115 chr20:51784619-51784619;C/G missense_variant False SALL4@p.L825V 1 0.158730159 ENSG00000101115 chr20:51789130-51789130;G/C missense_variant False SALL4@p.Q794E 1 0.586206897 ENSG00000101115 chr20:51790103-51790103;G/C missense_variant False SALL4@p.S269C 1 0.269230769 ENSG00000101115 chr20:51791677-51791677;G/C missense_variant False SALL4@p.S705F 1 0.244897959 ENSG00000101115 chr20:51790369-51790369;G/A missense_variant False SAMD10@p.W65S 1 0.555023923 ENSG00000130590 chr20:63977304-63977304;C/G missense_variant False SAMD11@p.E137K 1 0.461538462 ENSG00000187634 chr1:935875-935875;G/A missense_variant False SAMD11@p.E560Q 1 0.226415094 ENSG00000187634 chr1:943366-943366;G/C missense_variant False SAMD4B@p.S236C 1 0.079584775 ENSG00000179134 chr19:39375689-39375689;C/G missense_variant False SAMD7@p.E281K 1 0.273684211 ENSG00000187033 chr3:169927103-169927103;G/A missense_variant False SART1@p.D296H 1 0.285714286 ENSG00000175467 chr11:65966123-65966123;G/C missense_variant False SAP130@p.R1013T 1 0.306930693 ENSG00000136715 chr2:127942115-127942115;C/G missense_variant False SAP18@p.R81T 1 0.587301587 ENSG00000150459 chr13:21146864-21146864;G/C missense_variant False SAP18@p.R113T 1 0.133333333 ENSG00000150459 chr13:21147218-21147218;G/C missense_variant False SAP18@p.P152S 1 0.289156627 ENSG00000150459 chr13:21147334-21147334;C/T missense_variant False SAP18@p.E75Q 1 0.4 ENSG00000150459 chr13:21146845-21146845;G/C missense_variant False SAP130@p.S764L 1 0.211538462 ENSG00000136715 chr2:127955090-127955090;G/A missense_variant False SAP130@p.R990Q 1 0.3 ENSG00000136715 chr2:127942443-127942443;C/T missense_variant False SAP130@p.Q1008E 1 0.279411765 ENSG00000136715 chr2:127942131-127942131;G/C missense_variant False SAMSN1@p.D275Y 1 0.555555556 ENSG00000155307 chr21:14498538-14498538;C/A missense_variant False SAP130@p.P458T 1 0.217391304 ENSG00000136715 chr2:127996411-127996411;G/T missense_variant False SAP130@p.I528M 1 0.137931034 ENSG00000136715 chr2:127989838-127989838;G/C missense_variant False SAP130@p.I507M 1 0.222929936 ENSG00000136715 chr2:127993221-127993221;G/C missense_variant False SAP130@p.E138D 1 0.454545455 ENSG00000136715 chr2:128017692-128017692;C/G missense_variant False SAMSN1@p.L250V 1 0.340909091 ENSG00000155307 chr21:14500549-14500549;G/C missense_variant False SAMSN1@p.K231R 1 0.324074074 ENSG00000155307 chr21:14500605-14500605;T/C missense_variant False SAP30@p.K91N 1 0.078431373 ENSG00000164105 chr4:173371455-173371455;G/T missense_variant False SAP30@p.R123Q 1 0.92 ENSG00000164105 chr4:173373442-173373442;G/A missense_variant False SAP30@p.R125K 1 0.116666667 ENSG00000164105 chr4:173373448-173373448;G/A missense_variant False SAP30BP@p.G27A 1 0.19047619 ENSG00000161526 chr17:75667452-75667452;G/C missense_variant False SAPCD1@p.D50N 1 0.064935065 ENSG00000228727 chr6:31763448-31763448;G/A missense_variant False SAPCD1@p.R47K 1 0.09375 ENSG00000228727 chr6:31763440-31763440;G/A missense_variant False SARAF@p.E118Q 1 0.214285714 ENSG00000133872 chr8:30069990-30069990;C/G missense_variant False SARAF@p.L141P 1 0.333333333 ENSG00000133872 chr8:30069920-30069920;A/G missense_variant False SARDH@p.D675H 1 0.268292683 ENSG00000123453 chr9:133690426-133690426;C/G missense_variant False SARDH@p.Q149H 1 0.373831776 ENSG00000123453 chr9:133732486-133732486;C/G missense_variant False SARDH@p.Q263H 1 0.523809524 ENSG00000123453 chr9:133730089-133730089;C/G missense_variant False SARM1@p.R182Q 1 0.307692308 ENSG00000004139 chr17:28381277-28381277;G/A missense_variant False SARS1@p.E265K 1 0.099415205 ENSG00000031698 chr1:109235255-109235255;G/A missense_variant False SARS1@p.E42Q 1 0.233333333 ENSG00000031698 chr1:109214116-109214116;G/C missense_variant False SARS1@p.H280Y 1 0.380952381 ENSG00000031698 chr1:109235300-109235300;C/T missense_variant False SARS1@p.S258F 1 0.207920792 ENSG00000031698 chr1:109235235-109235235;C/T missense_variant False SARS2@p.D85N 1 0.166666667 ENSG00000104835 chr19:38930484-38930484;C/T missense_variant False SAMSN1@p.I276M 1 0.28125 ENSG00000155307 chr21:14498533-14498533;T/C missense_variant False SAMM50@p.S331L 1 0.337837838 ENSG00000100347 chr22:43981446-43981446;C/T missense_variant False SAMD7@p.E99Q 1 0.166666667 ENSG00000187033 chr3:169926557-169926557;G/C missense_variant False SAMD9@p.G1124S 1 0.41025641 ENSG00000205413 chr7:93102728-93102728;C/T missense_variant False SAMD9@p.R1529C 1 0.392156863 ENSG00000205413 chr7:93101513-93101513;G/A missense_variant False SAMD9@p.M886V 1 0.323076923 ENSG00000205413 chr7:93103442-93103442;T/C missense_variant False SAMD9@p.L1103V 1 0.116788321 ENSG00000205413 chr7:93102791-93102791;G/C missense_variant False SAMD9@p.K1385N 1 0.483870968 ENSG00000205413 chr7:93101943-93101943;C/A missense_variant False SAMD9@p.K1353Q 1 0.524752475 ENSG00000205413 chr7:93102041-93102041;T/G missense_variant False SAMD9@p.K1251N 1 0.470588235 ENSG00000205413 chr7:93102345-93102345;T/G missense_variant False SAMD9@p.F683L 1 0.161490683 ENSG00000205413 chr7:93104049-93104049;G/C missense_variant False SAMHD1@p.S27F 1 0.426791277 ENSG00000101347 chr20:36951564-36951564;G/A missense_variant False SAMD9@p.E1044D 1 0.363636364 ENSG00000205413 chr7:93102966-93102966;T/A missense_variant False SAMD9@p.D365H 1 0.050228311 ENSG00000205413 chr7:93105005-93105005;C/G missense_variant False SAMD8@p.S128C 1 0.061728395 ENSG00000156671 chr10:75150911-75150911;C/G missense_variant False SAMD8@p.R176Q 1 0.074074074 ENSG00000156671 chr10:75151055-75151055;G/A missense_variant False SAMD7@p.S237L 1 0.149350649 ENSG00000187033 chr3:169926972-169926972;C/T missense_variant False SAMD7@p.P299T 1 0.208333333 ENSG00000187033 chr3:169927157-169927157;C/A missense_variant False SAMD9@p.R824P 1 0.166666667 ENSG00000205413 chr7:93103627-93103627;C/G missense_variant False SAMD9@p.S602L 1 0.463917526 ENSG00000205413 chr7:93104293-93104293;G/A missense_variant False SAMD9L@p.D1190N 1 0.16080402 ENSG00000177409 chr7:93132404-93132404;C/T missense_variant False SAMD9L@p.D91H 1 0.130434783 ENSG00000177409 chr7:93135701-93135701;C/G missense_variant False SAMD9L@p.E1096Q 1 0.093333333 ENSG00000177409 chr7:93132686-93132686;C/G missense_variant False SAMD9L@p.H989Y 1 0.227272727 ENSG00000177409 chr7:93133007-93133007;G/A missense_variant False SAMD9L@p.K542Q 1 0.634146341 ENSG00000177409 chr7:93134348-93134348;T/G missense_variant False SAMD9L@p.R1243I 1 0.402777778 ENSG00000177409 chr7:93132244-93132244;C/A missense_variant False SAMD9L@p.R344T 1 0.072463768 ENSG00000177409 chr7:93134941-93134941;C/G missense_variant False SAMD9L@p.R463W 1 0.224719101 ENSG00000177409 chr7:93134585-93134585;G/A missense_variant False SAMD9L@p.S706C 1 0.282608696 ENSG00000177409 chr7:93133855-93133855;G/C missense_variant False SAMD9L@p.V304I 1 0.1640625 ENSG00000177409 chr7:93135062-93135062;C/T missense_variant False SAMD9L@p.W517C 1 0.051282051 ENSG00000177409 chr7:93134421-93134421;C/A missense_variant False SAMHD1@p.D353H 1 0.142465753 ENSG00000101347 chr20:36916727-36916727;C/G missense_variant False SAMHD1@p.G46S 1 0.176470588 ENSG00000101347 chr20:36951508-36951508;C/T missense_variant False SAMHD1@p.L428Sfs*8 1 0.357798165 ENSG00000101347 chr20:36905492-36905493;-/A frameshift_variant False SAMHD1@p.R371H 1 0.06122449 ENSG00000101347 chr20:36912503-36912503;C/T missense_variant False SCAMP3@p.R329Q 1 0.368421053 ENSG00000116521 chr1:155256331-155256331;C/T missense_variant False SCAMP3@p.T37R 1 0.12605042 ENSG00000116521 chr1:155261691-155261691;G/C missense_variant False SCAMP4@p.F208L 1 0.304347826 ENSG00000227500 chr19:1924218-1924218;C/A missense_variant False SCN5A@p.A1270V 1 0.076923077 ENSG00000183873 chr3:38566440-38566440;G/A missense_variant False SCN5A@p.I1559M 1 0.269230769 ENSG00000183873 chr3:38554415-38554415;G/C missense_variant False SCN5A@p.G400W 1 0.341463415 ENSG00000183873 chr3:38606091-38606091;C/A missense_variant False SCN5A@p.D542H 1 0.152173913 ENSG00000183873 chr3:38603978-38603978;C/G missense_variant False SCN5A@p.D322N 1 0.448275862 ENSG00000183873 chr3:38608185-38608185;C/T missense_variant False SCN5A@p.D322H 1 0.293413174 ENSG00000183873 chr3:38608185-38608185;C/G missense_variant False SCN5A@p.A997S 1 0.666666667 ENSG00000183873 chr3:38581170-38581170;C/A missense_variant False SCN4A@p.V1414I 1 0.245210728 ENSG00000007314 chr17:63942874-63942874;C/T missense_variant False SCN4A@p.A1068V 1 0.065217391 ENSG00000007314 chr17:63948005-63948005;G/A missense_variant False SCN4A@p.S1787N 1 0.490909091 ENSG00000007314 chr17:63940922-63940922;C/T missense_variant False SCN4A@p.R1337Q 1 0.3 ENSG00000007314 chr17:63943753-63943753;C/T missense_variant False SCN4A@p.Q1316H 1 0.115384615 ENSG00000007314 chr17:63943815-63943815;C/A missense_variant False SCN4A@p.N1600K 1 0.37755102 ENSG00000007314 chr17:63941482-63941482;G/T missense_variant False SCN4A@p.I174M 1 0.073170732 ENSG00000007314 chr17:63971811-63971811;G/C missense_variant False SCN4A@p.E1531K 1 0.109589041 ENSG00000007314 chr17:63941691-63941691;C/T missense_variant False SCN5A@p.K830N 1 0.1 ENSG00000183873 chr3:38585988-38585988;C/G missense_variant False SCN5A@p.Q998H 1 0.454545455 ENSG00000183873 chr3:38581165-38581165;C/G missense_variant False SCN5A@p.R1193W 1 0.5 ENSG00000183873 chr3:38575386-38575386;G/A missense_variant False SCN5A@p.R523H 1 0.411764706 ENSG00000183873 chr3:38604034-38604034;C/T missense_variant False SCN5A@p.V1353M 1 0.322580645 ENSG00000183873 chr3:38560335-38560335;C/T missense_variant False SCN7A@p.E437K 1 0.351851852 ENSG00000136546 chr2:166447690-166447690;C/T missense_variant False SCN7A@p.F1609I 1 0.346153846 ENSG00000136546 chr2:166405804-166405804;A/T missense_variant False SCN7A@p.I919L 1 0.23255814 ENSG00000136546 chr2:166427886-166427886;T/G missense_variant False SCN7A@p.K15E 1 0.1875 ENSG00000136546 chr2:166477654-166477654;T/C missense_variant False SCN7A@p.K1621E 1 0.489010989 ENSG00000136546 chr2:166405768-166405768;T/C missense_variant False SCN7A@p.L1339V 1 0.933333333 ENSG00000136546 chr2:166406614-166406614;G/C missense_variant False SCN7A@p.R1049T 1 0.266666667 ENSG00000136546 chr2:166416975-166416975;C/G missense_variant False SCN8A@p.A7P 1 0.060869565 ENSG00000196876 chr12:51662836-51662836;G/C missense_variant False SCN8A@p.E1804Q 1 0.290322581 ENSG00000196876 chr12:51806896-51806896;G/C missense_variant False SCN8A@p.F1192L 1 0.209677419 ENSG00000196876 chr12:51770614-51770614;C/A missense_variant False SCN8A@p.G1669E 1 0.119266055 ENSG00000196876 chr12:51806492-51806492;G/A missense_variant False SCN8A@p.I124T 1 0.275862069 ENSG00000196876 chr12:51684268-51684268;T/C missense_variant False SCN4A@p.E1034Q 1 0.103448276 ENSG00000007314 chr17:63948655-63948655;C/G missense_variant False SCN3B@p.R132L 1 0.382978723 ENSG00000166257 chr11:123642496-123642496;C/A missense_variant False SCN8A@p.R475W 1 0.52 ENSG00000196876 chr12:51706503-51706503;C/T missense_variant False SCN2A@p.K1743E 1 0.240963855 ENSG00000136531 chr2:165389033-165389033;A/G missense_variant False SCN2A@p.S1140L 1 0.317460317 ENSG00000136531 chr2:165365162-165365162;C/T missense_variant False SCN2A@p.P1622S 1 0.353658537 ENSG00000136531 chr2:165388670-165388670;C/T missense_variant False SCN2A@p.N1725S 1 0.161559889 ENSG00000136531 chr2:165388980-165388980;A/G missense_variant False SCN2A@p.N1339K 1 0.405405405 ENSG00000136531 chr2:165374729-165374729;T/G missense_variant False SCN2A@p.L808F 1 0.325301205 ENSG00000136531 chr2:165342329-165342329;C/T missense_variant False SCN2A@p.L56M 1 0.092307692 ENSG00000136531 chr2:165295989-165295989;T/A missense_variant False SCN2A@p.K124N 1 0.473684211 ENSG00000136531 chr2:165297121-165297121;G/T missense_variant False SCN3B@p.E32K 1 0.188405797 ENSG00000166257 chr11:123645712-123645712;C/T missense_variant False SCN2A@p.I253M 1 0.691588785 ENSG00000136531 chr2:165310384-165310384;C/G missense_variant False SCN2A@p.I1592T 1 0.193877551 ENSG00000136531 chr2:165386969-165386969;T/C missense_variant False SCN2A@p.G955S 1 0.366197183 ENSG00000136531 chr2:165344855-165344855;G/A missense_variant False SCN2A@p.E330Q 1 0.361702128 ENSG00000136531 chr2:165312042-165312042;G/C missense_variant False SCN2A@p.E1391Q 1 0.37704918 ENSG00000136531 chr2:165374883-165374883;G/C missense_variant False SCN2A@p.E1168K 1 0.127272727 ENSG00000136531 chr2:165365245-165365245;G/A missense_variant False SCN2A@p.S1336T 1 0.060606061 ENSG00000136531 chr2:165374718-165374718;T/A missense_variant False SCN2A@p.Y1448H 1 0.358490566 ENSG00000136531 chr2:165380625-165380625;T/C missense_variant False SCN2B@p.R47H 1 0.485232068 ENSG00000149575 chr11:118168682-118168682;C/T missense_variant False SCN3A@p.D1374H 1 0.119565217 ENSG00000153253 chr2:165097371-165097371;C/G missense_variant False SCN3A@p.E1119Q 1 0.095238095 ENSG00000153253 chr2:165127669-165127669;C/G missense_variant False SCN3A@p.E12K 1 0.411111111 ENSG00000153253 chr2:165176361-165176361;C/T missense_variant False SCN3A@p.E1693Q 1 0.212962963 ENSG00000153253 chr2:165091076-165091076;C/G missense_variant False SCN3A@p.G1455R 1 0.247191011 ENSG00000153253 chr2:165095579-165095579;C/T missense_variant False SCN3A@p.G1551V 1 0.068181818 ENSG00000153253 chr2:165092409-165092409;C/A missense_variant False SCN3A@p.K1476N 1 0.178082192 ENSG00000153253 chr2:165095514-165095514;C/G missense_variant False SCN3A@p.K234N 1 0.140350877 ENSG00000153253 chr2:165162821-165162821;C/G missense_variant False SCN3A@p.M1321I 1 0.230769231 ENSG00000153253 chr2:165100305-165100305;C/T missense_variant False SCN3A@p.M1367I 1 0.098039216 ENSG00000153253 chr2:165097390-165097390;C/T missense_variant False SCN3A@p.R1307T 1 0.08974359 ENSG00000153253 chr2:165100348-165100348;C/G missense_variant False SCN3A@p.R1621P 1 0.55952381 ENSG00000153253 chr2:165091291-165091291;C/G missense_variant False SCN3A@p.V73M 1 0.43956044 ENSG00000153253 chr2:165176178-165176178;C/T missense_variant False SCN3A@p.V888L 1 0.089820359 ENSG00000153253 chr2:165130200-165130200;C/G missense_variant False SCN8A@p.K1608Nfs*23 1 0.273469388 ENSG00000196876 chr12:51806308-51806308;A/- frameshift_variant False SCN9A@p.E1772Q 1 0.048648649 ENSG00000169432 chr2:166199325-166199325;C/G missense_variant False SCN2A@p.A1659P 1 0.09375 ENSG00000136531 chr2:165388781-165388781;G/C missense_variant False SCPEP1@p.G195R 1 0.539370079 ENSG00000121064 chr17:56991135-56991135;G/A missense_variant False SCRIB@p.D44H 1 0.25 ENSG00000180900 chr8:143815243-143815243;C/G missense_variant False SCRIB@p.D180N 1 0.13592233 ENSG00000180900 chr8:143813340-143813340;C/T missense_variant False SCRG1@p.E66K 1 0.050675676 ENSG00000164106 chr4:173391219-173391219;C/T missense_variant False SCPEP1@p.V383M 1 0.095744681 ENSG00000121064 chr17:57002032-57002032;G/A missense_variant False SCPEP1@p.M137V 1 0.396226415 ENSG00000121064 chr17:56987788-56987788;A/G missense_variant False SCPEP1@p.K102E 1 0.042016807 ENSG00000121064 chr17:56985456-56985456;A/G missense_variant False SCPEP1@p.F288L 1 0.189189189 ENSG00000121064 chr17:56997039-56997039;C/G missense_variant False SCNN1G@p.R138Q 1 0.149484536 ENSG00000166828 chr16:23189466-23189466;G/A missense_variant False SCP2D1@p.D152H 1 0.093023256 ENSG00000132631 chr20:18814269-18814269;G/C missense_variant False SCP2@p.Q73H 1 0.298076923 ENSG00000116171 chr1:52950774-52950774;G/C missense_variant False SCP2@p.M512I 1 0.269230769 ENSG00000116171 chr1:53047925-53047925;G/A missense_variant False SCP2@p.E449K 1 0.085714286 ENSG00000116171 chr1:53038923-53038923;G/A missense_variant False SCP2@p.D429N 1 0.205882353 ENSG00000116171 chr1:53028018-53028018;G/A missense_variant False SCO1@p.R25S 1 0.1875 ENSG00000133028 chr17:10697435-10697435;G/T missense_variant False SCRIB@p.E177Q 1 0.205479452 ENSG00000180900 chr8:143813349-143813349;C/G missense_variant False SCRIB@p.E289K 1 0.185714286 ENSG00000180900 chr8:143812307-143812307;C/T missense_variant False SCRIB@p.E489K 1 0.299559471 ENSG00000180900 chr8:143810544-143810544;C/T missense_variant False SCRIB@p.E494K 1 0.233463035 ENSG00000180900 chr8:143810529-143810529;C/T missense_variant False SCRIB@p.E561K 1 0.275862069 ENSG00000180900 chr8:143809568-143809568;C/T missense_variant False SCRIB@p.E718Q 1 0.089108911 ENSG00000180900 chr8:143807578-143807578;C/G missense_variant False SCRIB@p.E723Q 1 0.288461538 ENSG00000180900 chr8:143807563-143807563;C/G missense_variant False SCRIB@p.G1289R 1 0.132075472 ENSG00000180900 chr8:143793944-143793944;C/T missense_variant False SCRIB@p.G240R 1 0.157894737 ENSG00000180900 chr8:143812886-143812886;C/G missense_variant False SCRIB@p.L934Q 1 0.178571429 ENSG00000180900 chr8:143804776-143804776;A/T missense_variant False SCRIB@p.R1152C 1 0.376811594 ENSG00000180900 chr8:143803532-143803532;G/A missense_variant False SCRIB@p.R231G 1 0.333333333 ENSG00000180900 chr8:143812913-143812913;G/C missense_variant False SCRIB@p.R721C 1 0.28 ENSG00000180900 chr8:143807569-143807569;G/A missense_variant False SCRIB@p.S16L 1 0.260869565 ENSG00000180900 chr8:143815326-143815326;G/A missense_variant False SCRIB@p.S434L 1 0.1125 ENSG00000180900 chr8:143810789-143810789;G/A missense_variant False SCRN2@p.L232V 1 0.12244898 ENSG00000141295 chr17:47838869-47838869;G/C missense_variant False SCRN2@p.S231A 1 0.058823529 ENSG00000141295 chr17:47838872-47838872;A/C missense_variant False SCNN1G@p.R43H 1 0.063829787 ENSG00000166828 chr16:23186399-23186399;G/A missense_variant False SCNN1G@p.E446D 1 0.188118812 ENSG00000166828 chr16:23212721-23212721;G/T missense_variant False SCN9A@p.E284K 1 0.285714286 ENSG00000169432 chr2:166303141-166303141;C/T missense_variant False SCN9A@p.Q989H 1 0.5 ENSG00000169432 chr2:166272783-166272783;C/G missense_variant False SCNM1@p.E222K 1 0.333333333 ENSG00000163156 chr1:151169056-151169056;G/A missense_variant False SCN9A@p.V400M 1 0.417721519 ENSG00000169432 chr2:166288553-166288553;C/T missense_variant False SCN9A@p.V195I 1 0.268518519 ENSG00000169432 chr2:166305805-166305805;C/T missense_variant False SCN9A@p.V13F 1 0.512820513 ENSG00000169432 chr2:166311720-166311720;C/A missense_variant False SCN9A@p.T660M 1 0.4 ENSG00000169432 chr2:166281804-166281804;G/A missense_variant False SCN9A@p.R1860C 1 0.464788732 ENSG00000169432 chr2:166199061-166199061;G/A missense_variant False SCN9A@p.P80L 1 0.588235294 ENSG00000169432 chr2:166311518-166311518;G/A missense_variant False SCNN1G@p.D487N 1 0.120689655 ENSG00000166828 chr16:23213129-23213129;G/A missense_variant False SCN9A@p.P111S 1 0.25 ENSG00000169432 chr2:166307002-166307002;G/A missense_variant False SCN9A@p.M145I 1 0.571428571 ENSG00000169432 chr2:166306542-166306542;C/T missense_variant False SCN9A@p.K232T 1 0.481012658 ENSG00000169432 chr2:166303296-166303296;T/G missense_variant False SCN9A@p.I1694V 1 0.25 ENSG00000169432 chr2:166199559-166199559;T/C missense_variant False SCN9A@p.G830A 1 0.280487805 ENSG00000169432 chr2:166278168-166278168;C/G missense_variant False SCN9A@p.F1460V 1 0.615384615 ENSG00000169432 chr2:166226587-166226587;A/C missense_variant False SCNM1@p.R20K 1 0.142857143 ENSG00000163156 chr1:151166478-151166478;G/A missense_variant False SCNN1A@p.A522V 1 0.103448276 ENSG00000111319 chr12:6348791-6348791;G/A missense_variant False SCNN1A@p.E538K 1 0.376811594 ENSG00000111319 chr12:6348744-6348744;C/T missense_variant False SCNN1A@p.I259V 1 0.244274809 ENSG00000111319 chr12:6362151-6362151;T/C missense_variant False SCNN1A@p.S174F 1 0.55 ENSG00000111319 chr12:6363606-6363606;G/A missense_variant False SCNN1A@p.S487C 1 0.11875 ENSG00000111319 chr12:6349201-6349201;G/C missense_variant False SCNN1A@p.S487F 1 0.085308057 ENSG00000111319 chr12:6349201-6349201;G/A missense_variant False SCNN1A@p.S491L 1 0.071428571 ENSG00000111319 chr12:6349189-6349189;G/A missense_variant False SCNN1A@p.S562L 1 0.418604651 ENSG00000111319 chr12:6348198-6348198;G/A missense_variant False SCNN1B@p.A567T 1 0.333333333 ENSG00000168447 chr16:23380577-23380577;G/A missense_variant False SCNN1B@p.I108M 1 0.236842105 ENSG00000168447 chr16:23352813-23352813;C/G missense_variant False SCNN1B@p.I497M 1 0.336734694 ENSG00000168447 chr16:23380118-23380118;C/G missense_variant False SCNN1B@p.Q477E 1 0.276595745 ENSG00000168447 chr16:23378730-23378730;C/G missense_variant False SCNN1D@p.L543F 1 0.153846154 ENSG00000162572 chr1:1291320-1291320;C/T missense_variant False SCNN1D@p.Q490E 1 0.375 ENSG00000162572 chr1:1290937-1290937;C/G missense_variant False SCNN1D@p.R204T 1 0.5 ENSG00000162572 chr1:1286959-1286959;G/C missense_variant False SCNN1D@p.S406F 1 0.217391304 ENSG00000162572 chr1:1290317-1290317;C/T missense_variant False SCN2A@p.E1089K 1 0.221556886 ENSG00000136531 chr2:165354537-165354537;G/A missense_variant False SCN1B@p.V31A 1 0.183333333 ENSG00000105711 chr19:35032579-35032579;T/C missense_variant False SCAMP4@p.R177G 1 0.6 ENSG00000227500 chr19:1924123-1924123;C/G missense_variant False SCEL@p.Q21E 1 0.135048232 ENSG00000136155 chr13:77556613-77556613;C/G missense_variant False SCFD2@p.E638K 1 0.262295082 ENSG00000184178 chr4:52885797-52885797;C/T missense_variant False SCFD1@p.T242I 1 0.373333333 ENSG00000092108 chr14:30650620-30650620;C/T missense_variant False SCFD1@p.S637L 1 0.225609756 ENSG00000092108 chr14:30735590-30735590;C/T missense_variant False SCFD1@p.M454I 1 0.352112676 ENSG00000092108 chr14:30700210-30700210;G/C missense_variant False SCFD1@p.G527A 1 0.134146341 ENSG00000092108 chr14:30708016-30708016;G/C missense_variant False SCFD1@p.F29L 1 0.447368421 ENSG00000092108 chr14:30628234-30628234;C/A missense_variant False SCEL@p.P189A 1 0.546666667 ENSG00000136155 chr13:77589163-77589163;C/G missense_variant False SCARF2@p.S459L 1 0.25 ENSG00000244486 chr22:20429584-20429584;G/A missense_variant False SCEL@p.N383S 1 0.310457516 ENSG00000136155 chr13:77604406-77604406;A/G missense_variant False SCEL@p.N352Kfs*6 1 0.363636364 ENSG00000136155 chr13:77603091-77603104;TAATGCTACTGAAG/- frameshift_variant False SCEL@p.K47N 1 0.488764045 ENSG00000136155 chr13:77556693-77556693;G/T missense_variant False SCEL@p.H187N 1 0.547826087 ENSG00000136155 chr13:77589157-77589157;C/A missense_variant False SCD@p.M224I 1 0.891304348 ENSG00000099194 chr10:100356556-100356556;G/A missense_variant False SCCPDH@p.R103P 1 0.2 ENSG00000143653 chr1:246735979-246735979;G/C missense_variant False SCFD2@p.H566N 1 0.440677966 ENSG00000184178 chr4:52920736-52920736;G/T missense_variant False SCFD2@p.I374V 1 0.404255319 ENSG00000184178 chr4:53313651-53313651;T/C missense_variant False SCFD2@p.M613I 1 0.347368421 ENSG00000184178 chr4:52907460-52907460;C/T missense_variant False SCG2@p.D301H 1 0.088235294 ENSG00000171951 chr2:223598382-223598382;C/G missense_variant False SCG2@p.D536H 1 0.647058824 ENSG00000171951 chr2:223597677-223597677;C/G missense_variant False SCG2@p.D578H 1 0.090909091 ENSG00000171951 chr2:223597551-223597551;C/G missense_variant False SCG2@p.E101Q 1 0.341772152 ENSG00000171951 chr2:223598982-223598982;C/G missense_variant False SCG2@p.E188K 1 0.179012346 ENSG00000171951 chr2:223598721-223598721;C/T missense_variant False SCG2@p.I22M 1 0.140625 ENSG00000171951 chr2:223599217-223599217;G/C missense_variant False SCG2@p.M591T 1 0.067669173 ENSG00000171951 chr2:223597511-223597511;A/G missense_variant False SCG2@p.P129S 1 0.313432836 ENSG00000171951 chr2:223598898-223598898;G/A missense_variant False SCG2@p.P168S 1 0.174528302 ENSG00000171951 chr2:223598781-223598781;G/A missense_variant False SCG3@p.E161Q 1 0.196428571 ENSG00000104112 chr15:51688343-51688343;G/C missense_variant False SCG3@p.E90Q 1 0.402390438 ENSG00000104112 chr15:51683305-51683305;G/C missense_variant False SCG3@p.I302M 1 0.392473118 ENSG00000104112 chr15:51695912-51695912;C/G missense_variant False SCG5@p.L187V 1 0.318181818 ENSG00000166922 chr15:32696529-32696529;C/G missense_variant False SCGB1D1@p.K63N 1 0.102272727 ENSG00000168515 chr11:62192189-62192189;G/C missense_variant False SCCPDH@p.E115K 1 0.310344828 ENSG00000143653 chr1:246736014-246736014;G/A missense_variant False SCARF2@p.G485R 1 0.12987013 ENSG00000244486 chr22:20429327-20429327;C/G missense_variant False SCGB1D2@p.F35L 1 0.465753425 ENSG00000124935 chr11:62243338-62243338;C/A missense_variant False SCAP@p.L854V 1 0.238095238 ENSG00000114650 chr3:47417714-47417714;G/C missense_variant False SCAPER@p.F1222L 1 0.2 ENSG00000140386 chr15:76381417-76381417;G/T missense_variant False SCAPER@p.D1113H 1 0.348837209 ENSG00000140386 chr15:76404654-76404654;C/G missense_variant False SCAP@p.V114I 1 0.4125 ENSG00000114650 chr3:47428583-47428583;C/T missense_variant False SCAP@p.S571Qfs*13 1 0.272727273 ENSG00000114650 chr3:47419557-47419558;-/G frameshift_variant False SCAP@p.R503K 1 0.517241379 ENSG00000114650 chr3:47420609-47420609;C/T missense_variant False SCAP@p.Q1116E 1 0.102362205 ENSG00000114650 chr3:47414613-47414613;G/C missense_variant False SCAP@p.G53E 1 0.122807018 ENSG00000114650 chr3:47435102-47435102;C/T missense_variant False SCARF1@p.S787L 1 0.484375 ENSG00000074660 chr17:1634891-1634891;G/A missense_variant False SCAP@p.G34Sfs*4 1 0.333333333 ENSG00000114650 chr3:47442892-47442895;CCCT/- frameshift_variant False SCAP@p.E589K 1 0.919354839 ENSG00000114650 chr3:47419503-47419503;C/T missense_variant False SCAP@p.D1128N 1 0.412280702 ENSG00000114650 chr3:47414577-47414577;C/T missense_variant False SCAMP5@p.Y41C 1 0.48 ENSG00000198794 chr15:75012791-75012791;A/G missense_variant False SCAMP5@p.S85C 1 0.086956522 ENSG00000198794 chr15:75016710-75016710;C/G missense_variant False SCAMP4@p.W190C 1 0.131578947 ENSG00000227500 chr19:1924164-1924164;G/C missense_variant False SCAPER@p.F808Y 1 0.411764706 ENSG00000140386 chr15:76701843-76701843;A/T missense_variant False SCAPER@p.G1092D 1 0.295081967 ENSG00000140386 chr15:76434114-76434114;C/T missense_variant False SCAPER@p.K1013N 1 0.416666667 ENSG00000140386 chr15:76471251-76471251;C/G missense_variant False SCAPER@p.L796V 1 0.191011236 ENSG00000140386 chr15:76702864-76702864;G/C missense_variant False SCAPER@p.R112G 1 0.157894737 ENSG00000140386 chr15:76841793-76841793;G/C missense_variant False SCARA3@p.D327N 1 0.6 ENSG00000168077 chr8:27659149-27659149;G/A missense_variant False SCARA3@p.E232K 1 0.272727273 ENSG00000168077 chr8:27658864-27658864;G/A missense_variant False SCARA3@p.Q34H 1 0.291666667 ENSG00000168077 chr8:27649796-27649796;G/C missense_variant False SCARA3@p.R516Q 1 0.476190476 ENSG00000168077 chr8:27671077-27671077;G/A missense_variant False SCARA5@p.G415S 1 0.295454545 ENSG00000168079 chr8:27879677-27879677;C/T missense_variant False SCARA5@p.G415V 1 0.295454545 ENSG00000168079 chr8:27879676-27879676;C/A missense_variant False SCARB2@p.E157K 1 0.542124542 ENSG00000138760 chr4:76179660-76179660;C/T missense_variant False SCARB2@p.E471K 1 0.151515152 ENSG00000138760 chr4:76161739-76161739;C/T missense_variant False SCARB2@p.G106E 1 0.176470588 ENSG00000138760 chr4:76181060-76181060;C/T missense_variant False SCARB2@p.R134T 1 0.698412698 ENSG00000138760 chr4:76180976-76180976;C/G missense_variant False SCARB2@p.V229M 1 0.34375 ENSG00000138760 chr4:76176456-76176456;C/T missense_variant False SCARF1@p.P648A 1 0.409090909 ENSG00000074660 chr17:1635309-1635309;G/C missense_variant False SCGB1D2@p.D67N 1 0.178294574 ENSG00000124935 chr11:62243432-62243432;G/A missense_variant False SCGB2A2@p.L92V 1 0.40625 ENSG00000110484 chr11:62272987-62272987;T/G missense_variant False SCN1B@p.E48Q 1 0.184615385 ENSG00000105711 chr19:35032629-35032629;G/C missense_variant False SCN1A@p.A464V 1 0.361842105 ENSG00000144285 chr2:166045314-166045314;G/A missense_variant False SCN1A@p.E814K 1 0.230769231 ENSG00000144285 chr2:166039572-166039572;C/T missense_variant False SCN1A@p.E670Q 1 0.123287671 ENSG00000144285 chr2:166043704-166043704;C/G missense_variant False SCN1A@p.D1866Y 1 0.102040816 ENSG00000144285 chr2:165991679-165991679;C/A missense_variant False SCN1A@p.D1608N 1 0.416666667 ENSG00000144285 chr2:165994176-165994176;C/T missense_variant False SCN1A@p.C1756F 1 0.37628866 ENSG00000144285 chr2:165992008-165992008;C/A missense_variant False SCN1A@p.C1192F 1 0.410526316 ENSG00000144285 chr2:166013874-166013874;C/A missense_variant False SCN1A@p.A1343E 1 0.660714286 ENSG00000144285 chr2:166002728-166002728;G/T missense_variant False SCN11A@p.E1008Q 1 0.202380952 ENSG00000168356 chr3:38885330-38885330;C/G missense_variant False SCN11A@p.S323T 1 0.073529412 ENSG00000168356 chr3:38910200-38910200;A/T missense_variant False SCN11A@p.R1679S 1 0.142857143 ENSG00000168356 chr3:38847035-38847035;G/T missense_variant False SCN11A@p.K1718N 1 0.195979899 ENSG00000168356 chr3:38846916-38846916;C/G missense_variant False SCN11A@p.I1641M 1 0.25210084 ENSG00000168356 chr3:38847147-38847147;G/C missense_variant False SCN11A@p.F678L 1 0.170731707 ENSG00000168356 chr3:38897214-38897214;G/C missense_variant False SCN11A@p.E1615K 1 0.077380952 ENSG00000168356 chr3:38847227-38847227;C/T missense_variant False SCN1A@p.F1537L 1 0.3125 ENSG00000144285 chr2:165994387-165994387;G/T missense_variant False SCN1A@p.F412L 1 0.178571429 ENSG00000144285 chr2:166046911-166046911;G/C missense_variant False SCN1A@p.I1117N 1 0.082191781 ENSG00000144285 chr2:166036127-166036127;A/T missense_variant False SCN1A@p.I1715M 1 0.491525424 ENSG00000144285 chr2:165992130-165992130;G/C missense_variant False SCN1A@p.K1518N 1 0.106382979 ENSG00000144285 chr2:165996040-165996040;T/G missense_variant False SCN1A@p.K691N 1 0.386666667 ENSG00000144285 chr2:166042395-166042395;C/G missense_variant False SCN1A@p.N1349S 1 0.256410256 ENSG00000144285 chr2:166002710-166002710;T/C missense_variant False SCN1A@p.Q1821E 1 0.251851852 ENSG00000144285 chr2:165991814-165991814;G/C missense_variant False SCN1A@p.R187W 1 0.102040816 ENSG00000144285 chr2:166054681-166054681;G/A missense_variant False SCN1A@p.R1924L 1 0.299065421 ENSG00000144285 chr2:165991504-165991504;C/A missense_variant False SCN1A@p.R571K 1 0.325581395 ENSG00000144285 chr2:166044000-166044000;C/T missense_variant False SCN1A@p.R630Q 1 0.350877193 ENSG00000144285 chr2:166043823-166043823;C/T missense_variant False SCN1A@p.R630W 1 0.607142857 ENSG00000144285 chr2:166043824-166043824;G/A missense_variant False SCN1A@p.S106Y 1 0.181818182 ENSG00000144285 chr2:166058636-166058636;G/T missense_variant False SCN1A@p.T1088A 1 0.223880597 ENSG00000144285 chr2:166036215-166036215;T/C missense_variant False SCN1A@p.V404A 1 0.571428571 ENSG00000144285 chr2:166046936-166046936;A/G missense_variant False SCN1B@p.D153V 1 0.520408163 ENSG00000105711 chr19:35039126-35039126;A/T missense_variant False SCN11A@p.E1016Q 1 0.096774194 ENSG00000168356 chr3:38885306-38885306;C/G missense_variant False SCN11A@p.D1529N 1 0.396551724 ENSG00000168356 chr3:38847485-38847485;C/T missense_variant False SCGB2B2@p.E74K 1 0.095022624 ENSG00000205209 chr19:34594201-34594201;C/T missense_variant False SCLY@p.E325Q 1 0.666666667 ENSG00000132330 chr2:238093888-238093888;G/C missense_variant False SCML2@p.K161N 1 0.291262136 ENSG00000102098 chrX:18320335-18320335;C/G missense_variant False SCML2@p.D337N 1 0.918918919 ENSG00000102098 chrX:18260231-18260231;C/T missense_variant False SCML1@p.C326R 1 0.240506329 ENSG00000047634 chrX:17753378-17753378;T/C missense_variant False SCMH1@p.T188S 1 0.629032258 ENSG00000010803 chr1:41113436-41113436;T/A missense_variant False SCMH1@p.S391C 1 0.294117647 ENSG00000010803 chr1:41048794-41048794;G/C missense_variant False SCMH1@p.R205Q 1 0.155172414 ENSG00000010803 chr1:41113384-41113384;C/T missense_variant False SCLT1@p.S482L 1 0.529411765 ENSG00000151466 chr4:128943183-128943183;G/A missense_variant False SCN11A@p.A1688P 1 0.333333333 ENSG00000168356 chr3:38847008-38847008;C/G missense_variant False SCLT1@p.R605T 1 0.384615385 ENSG00000151466 chr4:128936670-128936670;C/G missense_variant False SCLT1@p.E519Q 1 0.166666667 ENSG00000151466 chr4:128943073-128943073;C/G missense_variant False SCLT1@p.E201D 1 0.233333333 ENSG00000151466 chr4:128997886-128997886;C/G missense_variant False SCIN@p.Q514E 1 0.142857143 ENSG00000006747 chr7:12640476-12640476;C/G missense_variant False SCGN@p.M86I 1 0.298507463 ENSG00000079689 chr6:25664954-25664954;G/A missense_variant False SCGN@p.D254N 1 0.55952381 ENSG00000079689 chr6:25701264-25701264;G/A missense_variant False SCML2@p.S255F 1 0.461538462 ENSG00000102098 chrX:18265769-18265769;G/A missense_variant False SCML2@p.S426C 1 0.347826087 ENSG00000102098 chrX:18257027-18257027;G/C missense_variant False SCML4@p.R291C 1 0.397959184 ENSG00000146285 chr6:107720805-107720805;G/A missense_variant False SCN10A@p.D1315N 1 0.168918919 ENSG00000185313 chr3:38712307-38712307;C/T missense_variant False SCN10A@p.D1499H 1 0.258064516 ENSG00000185313 chr3:38702001-38702001;C/G missense_variant False SCN10A@p.E1172Q 1 0.2 ENSG00000185313 chr3:38718820-38718820;C/G missense_variant False SCN10A@p.E849Q 1 0.211538462 ENSG00000185313 chr3:38728637-38728637;C/G missense_variant False SCN10A@p.E9K 1 0.394366197 ENSG00000185313 chr3:38793986-38793986;C/T missense_variant False SCN10A@p.H501Y 1 0.465116279 ENSG00000185313 chr3:38752473-38752473;G/A missense_variant False SCN10A@p.I1281M 1 0.093023256 ENSG00000185313 chr3:38712407-38712407;G/C missense_variant False SCN10A@p.L1508V 1 0.122807018 ENSG00000185313 chr3:38701974-38701974;G/C missense_variant False SCN10A@p.L169W 1 0.123076923 ENSG00000185313 chr3:38771372-38771372;A/C missense_variant False SCN10A@p.N1420K 1 0.109090909 ENSG00000185313 chr3:38709499-38709499;G/C missense_variant False SCN10A@p.N1684Tfs*14 1 0.181818182 ENSG00000185313 chr3:38698171-38698171;G/- frameshift_variant False SCN10A@p.P998S 1 0.582278481 ENSG00000185313 chr3:38726701-38726701;G/A missense_variant False SCN10A@p.R218T 1 0.226666667 ENSG00000185313 chr3:38763543-38763543;C/G missense_variant False SCN10A@p.S1603Y 1 0.17791411 ENSG00000185313 chr3:38698412-38698412;G/T missense_variant False SALL1@p.L762H 1 0.93220339 ENSG00000103449 chr16:51139937-51139937;A/T missense_variant False SALL1@p.I981M 1 0.357142857 ENSG00000103449 chr16:51139279-51139279;G/C missense_variant False SALL1@p.E599K 1 0.153846154 ENSG00000103449 chr16:51140427-51140427;C/T missense_variant False RUFY1@p.E516K 1 0.279279279 ENSG00000176783 chr5:179596596-179596596;G/A missense_variant False RUFY2@p.L543V 1 0.25 ENSG00000204130 chr10:68363618-68363618;G/C missense_variant False RUFY2@p.L460F 1 0.336244541 ENSG00000204130 chr10:68376905-68376905;G/A missense_variant False RUFY2@p.L17Ffs*6 1 0.313253012 ENSG00000204130 chr10:68406812-68406813;-/A frameshift_variant False RUFY1@p.Q465H 1 0.095238095 ENSG00000176783 chr5:179593627-179593627;G/T missense_variant False RUFY1@p.L268F 1 0.091836735 ENSG00000176783 chr5:179569401-179569401;G/C missense_variant False RUFY1@p.L234Kfs*5 1 0.1 ENSG00000176783 chr5:179567558-179567559;TT/- frameshift_variant False RUFY1@p.D281H 1 0.098591549 ENSG00000176783 chr5:179577087-179577087;G/C missense_variant False RTTN@p.S840L 1 0.097560976 ENSG00000176225 chr18:70142350-70142350;G/A missense_variant False RUBCNL@p.S252C 1 0.403225806 ENSG00000102445 chr13:46368113-46368113;G/C missense_variant False RUBCN@p.R385H 1 0.190082645 ENSG00000145016 chr3:197700720-197700720;C/T missense_variant False RUBCN@p.L478V 1 0.204545455 ENSG00000145016 chr3:197695907-197695907;G/C missense_variant False RUBCN@p.E933K 1 0.277777778 ENSG00000145016 chr3:197675140-197675140;C/T missense_variant False RUBCN@p.E525K 1 0.597402597 ENSG00000145016 chr3:197694486-197694486;C/T missense_variant False RUBCN@p.C339F 1 0.230769231 ENSG00000145016 chr3:197700858-197700858;C/A missense_variant False RUFY2@p.Q327K 1 0.081081081 ENSG00000204130 chr10:68383863-68383863;G/T missense_variant False RUFY2@p.S617F 1 0.305263158 ENSG00000204130 chr10:68345844-68345844;G/A missense_variant False RUFY3@p.E227Q 1 0.25 ENSG00000018189 chr4:70768644-70768644;G/C missense_variant False RUFY3@p.E557Q 1 0.149425287 ENSG00000018189 chr4:70804366-70804366;G/C missense_variant False RUFY3@p.I48M 1 0.545454545 ENSG00000018189 chr4:70722717-70722717;C/G missense_variant False RUFY3@p.P54S 1 0.15625 ENSG00000018189 chr4:70722733-70722733;C/T missense_variant False RUFY3@p.V384D 1 0.15 ENSG00000018189 chr4:70788885-70788885;T/A missense_variant False RUNDC1@p.C299Y 1 0.456896552 ENSG00000198863 chr17:42990356-42990356;G/A missense_variant False RUNDC1@p.D128N 1 0.3 ENSG00000198863 chr17:42980958-42980958;G/A missense_variant False RUNDC1@p.E581Q 1 0.447368421 ENSG00000198863 chr17:42991615-42991615;G/C missense_variant False RUNDC1@p.Q549R 1 0.243243243 ENSG00000198863 chr17:42991520-42991520;A/G missense_variant False RUNDC3A@p.L329V 1 0.216216216 ENSG00000108309 chr17:44316416-44316416;C/G missense_variant False RUNDC3B@p.D229N 1 0.176470588 ENSG00000105784 chr7:87770585-87770585;G/A missense_variant False RUNDC3B@p.L292I 1 0.5 ENSG00000105784 chr7:87777822-87777822;C/A missense_variant False RUNX1@p.A107P 1 0.487804878 ENSG00000159216 chr21:34880665-34880665;C/G missense_variant True RUNX1@p.D66N 1 0.255813953 ENSG00000159216 chr21:34886917-34886917;C/T missense_variant True RUNX1@p.K83N 1 0.214285714 ENSG00000159216 chr21:34886864-34886864;C/G missense_variant True RTTN@p.V64G 1 0.546666667 ENSG00000176225 chr18:70205156-70205156;A/C missense_variant False RTTN@p.S515F 1 0.144329897 ENSG00000176225 chr18:70169000-70169000;G/A missense_variant False RUNX1@p.N69S 1 0.666666667 ENSG00000159216 chr21:34886907-34886907;T/C missense_variant True RTN4RL2@p.L130P 1 0.213333333 ENSG00000186907 chr11:57467966-57467966;T/C missense_variant False RTP1@p.M54K 1 0.097560976 ENSG00000175077 chr3:187197676-187197676;T/A missense_variant False RTP1@p.E52D 1 0.280487805 ENSG00000175077 chr3:187197671-187197671;G/C missense_variant False RTP1@p.E168K 1 0.161764706 ENSG00000175077 chr3:187199780-187199780;G/A missense_variant False RTP1@p.E151K 1 0.108108108 ENSG00000175077 chr3:187199729-187199729;G/A missense_variant False RTP1@p.D61H 1 0.074468085 ENSG00000175077 chr3:187197696-187197696;G/C missense_variant False RTN4RL2@p.Q106R 1 0.0625 ENSG00000186907 chr11:57467894-57467894;A/G missense_variant False RTN4RL1@p.G371R 1 0.425 ENSG00000185924 chr17:1936711-1936711;C/T missense_variant False RTTN@p.S338R 1 0.298245614 ENSG00000176225 chr18:70190713-70190713;A/T missense_variant False RTN4R@p.T102S 1 0.670454545 ENSG00000040608 chr22:20242828-20242828;G/C missense_variant False RTN4R@p.R351K 1 0.333333333 ENSG00000040608 chr22:20242081-20242081;C/T missense_variant False RTN4R@p.E244K 1 0.37037037 ENSG00000040608 chr22:20242403-20242403;C/T missense_variant False RTN4IP1@p.R31T 1 0.242857143 ENSG00000130347 chr6:106628930-106628930;C/G missense_variant False RTN4IP1@p.Q177E 1 0.111111111 ENSG00000130347 chr6:106619293-106619293;G/C missense_variant False RTN4IP1@p.L155F 1 0.204545455 ENSG00000130347 chr6:106621457-106621457;G/A missense_variant False RTP2@p.C61G 1 0.28125 ENSG00000198471 chr3:187698995-187698995;A/C missense_variant False RTP2@p.D32N 1 0.183406114 ENSG00000198471 chr3:187702035-187702035;C/T missense_variant False RTP3@p.K124N 1 0.090909091 ENSG00000163825 chr3:46500572-46500572;G/C missense_variant False RTP4@p.E205K 1 0.216494845 ENSG00000136514 chr3:187371245-187371245;G/A missense_variant False RTP5@p.D64V 1 0.238095238 ENSG00000188011 chr2:241871746-241871746;A/T missense_variant False RTP5@p.L405Q 1 0.611111111 ENSG00000188011 chr2:241872769-241872769;T/A missense_variant False RTRAF@p.Q202E 1 0.186440678 ENSG00000087302 chr14:52004385-52004385;C/G missense_variant False RTTN@p.D217G 1 0.25 ENSG00000176225 chr18:70197667-70197667;T/C missense_variant False RTTN@p.L101V 1 0.117283951 ENSG00000176225 chr18:70204182-70204182;G/C missense_variant False RTTN@p.L1439F 1 0.403669725 ENSG00000176225 chr18:70086672-70086672;G/A missense_variant False RTTN@p.L1746V 1 0.264150943 ENSG00000176225 chr18:70051498-70051498;G/C missense_variant False RTTN@p.L620F 1 0.193548387 ENSG00000176225 chr18:70166133-70166133;G/A missense_variant False RTTN@p.L733V 1 0.182539683 ENSG00000176225 chr18:70149013-70149013;G/C missense_variant False RTTN@p.Q1238E 1 0.157894737 ENSG00000176225 chr18:70109689-70109689;G/C missense_variant False RTTN@p.R70K 1 0.360655738 ENSG00000176225 chr18:70205138-70205138;C/T missense_variant False RTTN@p.S1799F 1 0.42 ENSG00000176225 chr18:70048116-70048116;G/A missense_variant False RTTN@p.S288F 1 0.266666667 ENSG00000176225 chr18:70193432-70193432;G/A missense_variant False RUNX1@p.L148_T149insM 1 0.625 ENSG00000159216 chr21:34859560-34859561;-/TCA inframe_insertion True RUNX1@p.P271Qfs*13 1 0.555555556 ENSG00000159216 chr21:34799375-34799375;G/- frameshift_variant True RTN4@p.S939F 1 0.479591837 ENSG00000115310 chr2:55025283-55025283;G/A missense_variant False RWDD1@p.E6K 1 0.176470588 ENSG00000111832 chr6:116571598-116571598;G/A missense_variant False RWDD4@p.P42S 1 0.130081301 ENSG00000182552 chr4:183651309-183651309;G/A missense_variant False RWDD2B@p.Y298C 1 0.380952381 ENSG00000156253 chr21:29006484-29006484;T/C missense_variant False RWDD2B@p.G177V 1 0.263736264 ENSG00000156253 chr21:29007956-29007956;C/A missense_variant False RWDD2A@p.E276Q 1 0.292682927 ENSG00000013392 chr6:83196219-83196219;G/C missense_variant False RWDD1@p.S241L 1 0.58974359 ENSG00000111832 chr6:116593091-116593091;C/T missense_variant False RWDD1@p.G205A 1 0.163934426 ENSG00000111832 chr6:116592983-116592983;G/C missense_variant False RWDD1@p.D229N 1 0.193548387 ENSG00000111832 chr6:116593054-116593054;G/A missense_variant False RUSF1@p.E446K 1 0.159292035 ENSG00000140688 chr16:31490906-31490906;C/T missense_variant False RUVBL2@p.S110F 1 0.183673469 ENSG00000183207 chr19:49007081-49007081;C/T missense_variant False RUVBL2@p.E458K 1 0.218181818 ENSG00000183207 chr19:49015822-49015822;G/A missense_variant False RUVBL1@p.S37L 1 0.543478261 ENSG00000175792 chr3:128123615-128123615;G/A missense_variant False RUVBL1@p.S103L 1 0.305084746 ENSG00000175792 chr3:128112941-128112941;G/A missense_variant False RUVBL1@p.E4Q 1 0.142857143 ENSG00000175792 chr3:128123715-128123715;C/G missense_variant False RUVBL1@p.E4D 1 0.203883495 ENSG00000175792 chr3:128123713-128123713;C/G missense_variant False RWDD4@p.S31C 1 0.217741935 ENSG00000182552 chr4:183655894-183655894;G/C missense_variant False RXFP1@p.E255K 1 0.392857143 ENSG00000171509 chr4:158626827-158626827;G/A missense_variant False RXFP1@p.E255Q 1 0.5 ENSG00000171509 chr4:158626827-158626827;G/C missense_variant False RXFP1@p.E320Q 1 0.051020408 ENSG00000171509 chr4:158633463-158633463;G/C missense_variant False RXFP1@p.R702I 1 0.483516484 ENSG00000171509 chr4:158651886-158651886;G/T missense_variant False RXFP1@p.S99Y 1 0.314285714 ENSG00000171509 chr4:158599335-158599335;C/A missense_variant False RXFP1@p.W723C 1 0.854166667 ENSG00000171509 chr4:158651950-158651950;G/T missense_variant False RXFP2@p.E519Q 1 0.438596491 ENSG00000133105 chr13:31792857-31792857;G/C missense_variant False RXFP2@p.L248V 1 0.186567164 ENSG00000133105 chr13:31778540-31778540;C/G missense_variant False RXFP3@p.A399V 1 0.285714286 ENSG00000182631 chr5:33937936-33937936;C/T missense_variant False RXFP3@p.E72Q 1 0.058536585 ENSG00000182631 chr5:33936954-33936954;G/C missense_variant False RXFP3@p.R298H 1 0.238095238 ENSG00000182631 chr5:33937633-33937633;G/A missense_variant False RXFP4@p.A353T 1 0.319148936 ENSG00000173080 chr1:155942766-155942766;G/A missense_variant False RXFP4@p.E184K 1 0.380434783 ENSG00000173080 chr1:155942259-155942259;G/A missense_variant False RXFP4@p.R249C 1 0.433962264 ENSG00000173080 chr1:155942454-155942454;C/T missense_variant False RXRA@p.G329R 1 0.337209302 ENSG00000186350 chr9:134429182-134429182;G/A missense_variant False RXRA@p.I345M 1 0.181818182 ENSG00000186350 chr9:134429232-134429232;C/G missense_variant False RUSF1@p.L287F 1 0.203389831 ENSG00000140688 chr16:31493700-31493700;C/G missense_variant False RUSC2@p.S310P 1 0.181208054 ENSG00000198853 chr9:35547449-35547449;T/C missense_variant False RUNX1@p.R130I 1 0.35 ENSG00000159216 chr21:34880595-34880595;C/A missense_variant True RUNX1T1@p.S225L 1 0.115384615 ENSG00000079102 chr8:92005182-92005182;G/A missense_variant False RUSC1@p.E240K 1 0.112149533 ENSG00000160753 chr1:155322491-155322491;G/A missense_variant False RUSC1@p.A505T 1 0.12568306 ENSG00000160753 chr1:155325158-155325158;G/A missense_variant False RUSC1@p.A395T 1 0.363636364 ENSG00000160753 chr1:155322956-155322956;G/A missense_variant False RUNX3@p.Q319H 1 0.353658537 ENSG00000020633 chr1:24902413-24902413;C/A missense_variant False RUNX3@p.D249N 1 0.209424084 ENSG00000020633 chr1:24902625-24902625;C/T missense_variant False RUNX2@p.Q455E 1 0.105263158 ENSG00000124813 chr6:45547102-45547102;C/G missense_variant False RUNX1T1@p.R275L 1 0.481481481 ENSG00000079102 chr8:91991806-91991806;C/A missense_variant False RUSC2@p.S1493F 1 0.23015873 ENSG00000198853 chr9:35561309-35561309;C/T missense_variant False RUNX1T1@p.G281S 1 0.277777778 ENSG00000079102 chr8:91991789-91991789;C/T missense_variant False RUNX1T1@p.D543H 1 0.322580645 ENSG00000079102 chr8:91960430-91960430;C/G missense_variant False RUNX1@p.R244Ifs*324 1 0.712328767 ENSG00000159216 chr21:34799445-34799458;GTTGGATCTGCCTT/- frameshift_variant True RUNX1@p.R205L 1 0.561983471 ENSG00000159216 chr21:34834520-34834520;C/A missense_variant True RUNX1@p.R139P 1 0.242424242 ENSG00000159216 chr21:34880568-34880568;C/G missense_variant True RUNX1@p.R130T 1 0.225806452 ENSG00000159216 chr21:34880595-34880595;C/G missense_variant True RUSC1@p.F633L 1 0.25 ENSG00000160753 chr1:155326617-155326617;C/G missense_variant False RUSC1@p.P463S 1 0.252 ENSG00000160753 chr1:155324874-155324874;C/T missense_variant False RUSC1@p.P79S 1 0.44 ENSG00000160753 chr1:155322008-155322008;C/T missense_variant False RUSC1@p.R757H 1 0.113636364 ENSG00000160753 chr1:155326988-155326988;G/A missense_variant False RUSC1@p.S105L 1 0.108695652 ENSG00000160753 chr1:155322087-155322087;C/T missense_variant False RUSC1@p.S180L 1 0.365384615 ENSG00000160753 chr1:155322312-155322312;C/T missense_variant False RUSC1@p.S275C 1 0.048780488 ENSG00000160753 chr1:155322597-155322597;C/G missense_variant False RUSC2@p.A319T 1 0.112676056 ENSG00000198853 chr9:35547476-35547476;G/A missense_variant False RUSC2@p.D203N 1 0.464285714 ENSG00000198853 chr9:35547128-35547128;G/A missense_variant False RUSC2@p.E10Q 1 0.45505618 ENSG00000198853 chr9:35546549-35546549;G/C missense_variant False RUSC2@p.E1119K 1 0.49 ENSG00000198853 chr9:35559239-35559239;G/A missense_variant False RUSC2@p.E868D 1 0.140350877 ENSG00000198853 chr9:35555649-35555649;G/C missense_variant False RUSC2@p.E868Q 1 0.147540984 ENSG00000198853 chr9:35555647-35555647;G/C missense_variant False RUSC2@p.G1238E 1 0.357142857 ENSG00000198853 chr9:35560353-35560353;G/A missense_variant False RUSC2@p.K1303N 1 0.266666667 ENSG00000198853 chr9:35560549-35560549;G/C missense_variant False RUSC2@p.R1212Gfs*18 1 0.157894737 ENSG00000198853 chr9:35560272-35560272;C/- frameshift_variant False RUSC2@p.R165Q 1 0.231481481 ENSG00000198853 chr9:35547015-35547015;G/A missense_variant False RTN4IP1@p.A240S 1 0.533333333 ENSG00000130347 chr6:106592252-106592252;C/A missense_variant False RTN4@p.S666L 1 0.226415094 ENSG00000115310 chr2:55026102-55026102;G/A missense_variant False RXRA@p.L47V 1 0.663043478 ENSG00000186350 chr9:134401742-134401742;C/G missense_variant False RSPRY1@p.N280D 1 0.190677966 ENSG00000159579 chr16:57216972-57216972;A/G missense_variant False RSRC2@p.D96H 1 0.146666667 ENSG00000111011 chr12:122518951-122518951;C/G missense_variant False RSRC2@p.D19H 1 0.114754098 ENSG00000111011 chr12:122522251-122522251;C/G missense_variant False RSRC2@p.A322T 1 0.182432432 ENSG00000111011 chr12:122508289-122508289;C/T missense_variant False RSRC1@p.Y94C 1 0.490566038 ENSG00000174891 chr3:158123952-158123952;A/G missense_variant False RSRC1@p.R86H 1 0.285714286 ENSG00000174891 chr3:158123928-158123928;G/A missense_variant False RSRC1@p.R58H 1 0.301886792 ENSG00000174891 chr3:158122277-158122277;G/A missense_variant False RSPRY1@p.M125V 1 0.393203883 ENSG00000159579 chr16:57208080-57208080;A/G missense_variant False RSPO2@p.C128Y 1 0.08 ENSG00000147655 chr8:107960718-107960718;C/T missense_variant False RSPRY1@p.M125I 1 0.316939891 ENSG00000159579 chr16:57208082-57208082;G/A missense_variant False RSPRY1@p.E424Q 1 0.080645161 ENSG00000159579 chr16:57227450-57227450;G/C missense_variant False RSPRY1@p.D496Y 1 0.4 ENSG00000159579 chr16:57231276-57231276;G/T missense_variant False RSPO2@p.R69H 1 0.088888889 ENSG00000147655 chr8:107989133-107989133;C/T missense_variant False RSPO2@p.K220N 1 0.446808511 ENSG00000147655 chr8:107901147-107901147;C/A missense_variant False RSPO2@p.K112Q 1 0.225352113 ENSG00000147655 chr8:107960767-107960767;T/G missense_variant False RSRC2@p.E332Q 1 0.090909091 ENSG00000111011 chr12:122508259-122508259;C/G missense_variant False RSRC2@p.F213C 1 0.31372549 ENSG00000111011 chr12:122515192-122515192;A/C missense_variant False RSRC2@p.K255N 1 0.173913043 ENSG00000111011 chr12:122511149-122511149;C/G missense_variant False RSRC2@p.N365S 1 0.396039604 ENSG00000111011 chr12:122506865-122506865;T/C missense_variant False RSRC2@p.R66T 1 0.333333333 ENSG00000111011 chr12:122521395-122521395;C/G missense_variant False RSRC2@p.S165L 1 0.106060606 ENSG00000111011 chr12:122517335-122517335;G/A missense_variant False RSRC2@p.S350C 1 0.069444444 ENSG00000111011 chr12:122506910-122506910;G/C missense_variant False RSRP1@p.R235Q 1 0.453333333 ENSG00000117616 chr1:25243602-25243602;C/T missense_variant False RSRP1@p.S31W 1 0.125 ENSG00000117616 chr1:25246872-25246872;G/C missense_variant False RSRP1@p.S54A 1 0.41509434 ENSG00000117616 chr1:25246804-25246804;A/C missense_variant False RSU1@p.R277T 1 0.694444444 ENSG00000148484 chr10:16593398-16593398;C/G missense_variant False RSU1@p.T43A 1 0.173913043 ENSG00000148484 chr10:16782067-16782067;T/C missense_variant False RTCA@p.D237E 1 0.073170732 ENSG00000137996 chr1:100275694-100275694;C/G missense_variant False RTCA@p.D343H 1 0.202531646 ENSG00000137996 chr1:100291430-100291430;G/C missense_variant False RTCA@p.E276Q 1 0.148148148 ENSG00000137996 chr1:100285254-100285254;G/C missense_variant False RTCA@p.E344K 1 0.173469388 ENSG00000137996 chr1:100291433-100291433;G/A missense_variant False RTCA@p.G123V 1 0.351145038 ENSG00000137996 chr1:100270634-100270634;G/T missense_variant False RSPO2@p.G51V 1 0.139534884 ENSG00000147655 chr8:107989187-107989187;C/A missense_variant False RSPH6A@p.R610H 1 0.25 ENSG00000104941 chr19:45800533-45800533;C/T missense_variant False RTCB@p.D444N 1 0.169811321 ENSG00000100220 chr22:32392320-32392320;C/T missense_variant False RSPH10B2@p.Q534H 1 0.154696133 ENSG00000169402 chr7:6780881-6780881;G/C missense_variant False RSPH1@p.P207L 1 0.350515464 ENSG00000160188 chr21:42477398-42477398;G/A missense_variant False RSPH14@p.V260E 1 0.118421053 ENSG00000100218 chr22:23061820-23061820;A/T missense_variant False RSPH14@p.I60M 1 0.102564103 ENSG00000100218 chr22:23140241-23140241;G/C missense_variant False RSPH10B@p.M242I 1 0.104347826 ENSG00000155026 chr7:5957961-5957961;C/T missense_variant False RSPH10B@p.K778R 1 0.143911439 ENSG00000155026 chr7:5928295-5928295;T/C missense_variant False RSPH10B@p.E785D 1 0.286163522 ENSG00000155026 chr7:5928273-5928273;C/A missense_variant False RSPH10B2@p.L22V 1 0.315789474 ENSG00000169402 chr7:6757741-6757741;C/G missense_variant False RSPH6A@p.P48L 1 0.131147541 ENSG00000104941 chr19:45815034-45815034;G/A missense_variant False RSPH10B2@p.K11I 1 0.235294118 ENSG00000169402 chr7:6757709-6757709;A/T missense_variant False RSPH10B2@p.F170L 1 0.625 ENSG00000169402 chr7:6764038-6764038;C/A missense_variant False RSPH10B2@p.E39Q 1 0.140350877 ENSG00000169402 chr7:6757792-6757792;G/C missense_variant False RSPH10B2@p.D207H 1 0.178571429 ENSG00000169402 chr7:6765751-6765751;G/C missense_variant False RSL24D1@p.E4K 1 0.375 ENSG00000137876 chr15:55196881-55196881;C/T missense_variant False RSL1D1@p.R403H 1 0.084084084 ENSG00000171490 chr16:11838052-11838052;C/T missense_variant False RSPH1@p.Q79E 1 0.047244094 ENSG00000160188 chr21:42492797-42492797;G/C missense_variant False RSPH1@p.R66Q 1 0.358974359 ENSG00000160188 chr21:42492835-42492835;C/T missense_variant False RSPH3@p.M550I 1 0.3 ENSG00000130363 chr6:158977571-158977571;C/T missense_variant False RSPH3@p.R58G 1 0.176470588 ENSG00000130363 chr6:158999805-158999805;T/C missense_variant False RSPH4A@p.D179H 1 0.156626506 ENSG00000111834 chr6:116617158-116617158;G/C missense_variant False RSPH4A@p.D179N 1 0.145833333 ENSG00000111834 chr6:116617158-116617158;G/A missense_variant False RSPH4A@p.H399D 1 0.489795918 ENSG00000111834 chr6:116627902-116627902;C/G missense_variant False RSPH4A@p.H546Y 1 0.230366492 ENSG00000111834 chr6:116628343-116628343;C/T missense_variant False RSPH4A@p.L697V 1 0.25 ENSG00000111834 chr6:116632379-116632379;C/G missense_variant False RSPH4A@p.N566Kfs*2 1 0.436893204 ENSG00000111834 chr6:116629594-116629595;-/A frameshift_variant False RSPH4A@p.S612F 1 0.149425287 ENSG00000111834 chr6:116630471-116630471;C/T missense_variant False RSPH6A@p.D257H 1 0.663043478 ENSG00000104941 chr19:45810722-45810722;C/G missense_variant False RSPH6A@p.D518N 1 0.125 ENSG00000104941 chr19:45804353-45804353;C/T missense_variant False RSPH6A@p.E382Q 1 0.363636364 ENSG00000104941 chr19:45804761-45804761;C/G missense_variant False RSPH6A@p.G160S 1 0.225806452 ENSG00000104941 chr19:45814699-45814699;C/T missense_variant False RSPH6A@p.G631R 1 0.566666667 ENSG00000104941 chr19:45800471-45800471;C/T missense_variant False RSPH6A@p.H544Y 1 0.4 ENSG00000104941 chr19:45804275-45804275;G/A missense_variant False RTCB@p.A273V 1 0.064516129 ENSG00000100220 chr22:32396246-32396246;G/A missense_variant False RTCB@p.F238L 1 0.076923077 ENSG00000100220 chr22:32398041-32398041;G/T missense_variant False RTN4@p.P481S 1 0.140625 ENSG00000115310 chr2:55026658-55026658;G/A missense_variant False RTL9@p.T596Sfs*42 1 0.25 ENSG00000243978 chrX:110452401-110452402;AC/- frameshift_variant False RTN1@p.Q276H 1 0.201834862 ENSG00000139970 chr14:59745895-59745895;C/G missense_variant False RTN1@p.P579A 1 0.225806452 ENSG00000139970 chr14:59726949-59726949;G/C missense_variant False RTN1@p.E385K 1 0.222222222 ENSG00000139970 chr14:59727531-59727531;C/T missense_variant False RTN1@p.E203K 1 0.336283186 ENSG00000139970 chr14:59746116-59746116;C/T missense_variant False RTN1@p.D152Y 1 0.50877193 ENSG00000139970 chr14:59746269-59746269;C/A missense_variant False RTN1@p.A406T 1 0.636363636 ENSG00000139970 chr14:59727468-59727468;C/T missense_variant False RTL9@p.S689C 1 0.557692308 ENSG00000243978 chrX:110452683-110452683;C/G missense_variant False RTL8C@p.D93N 1 0.063829787 ENSG00000134590 chrX:135032660-135032660;G/A missense_variant False RTL9@p.S669L 1 0.28 ENSG00000243978 chrX:110452623-110452623;C/T missense_variant False RTL9@p.S602Y 1 0.148648649 ENSG00000243978 chrX:110452422-110452422;C/A missense_variant False RTL9@p.S256P 1 0.25 ENSG00000243978 chrX:110451383-110451383;T/C missense_variant False RTL9@p.S1108C 1 0.111111111 ENSG00000243978 chrX:110453940-110453940;C/G missense_variant False RTL9@p.L1211V 1 0.105263158 ENSG00000243978 chrX:110454248-110454248;C/G missense_variant False RTL8C@p.L98V 1 0.051851852 ENSG00000134590 chrX:135032675-135032675;C/G missense_variant False RTN1@p.S110C 1 0.101449275 ENSG00000139970 chr14:59746394-59746394;G/C missense_variant False RTN1@p.S558L 1 0.1875 ENSG00000139970 chr14:59727011-59727011;G/A missense_variant False RTN2@p.E247Q 1 0.668049793 ENSG00000125744 chr19:45494241-45494241;C/G missense_variant False RTN2@p.T154M 1 0.31097561 ENSG00000125744 chr19:45494624-45494624;G/A missense_variant False RTN3@p.D956H 1 0.198979592 ENSG00000133318 chr11:63752634-63752634;G/C missense_variant False RTN3@p.E522K 1 0.095238095 ENSG00000133318 chr11:63720066-63720066;G/A missense_variant False RTN3@p.E538Q 1 0.206349206 ENSG00000133318 chr11:63720114-63720114;G/C missense_variant False RTN3@p.M440V 1 0.267326733 ENSG00000133318 chr11:63719820-63719820;A/G missense_variant False RTN3@p.M931I 1 0.241176471 ENSG00000133318 chr11:63752561-63752561;G/A missense_variant False RTN3@p.R662K 1 0.263157895 ENSG00000133318 chr11:63720487-63720487;G/A missense_variant False RTN3@p.S105Kfs*50 1 0.208333333 ENSG00000133318 chr11:63718809-63718810;-/A frameshift_variant False RTN3@p.S234L 1 0.23880597 ENSG00000133318 chr11:63719203-63719203;C/T missense_variant False RTN3@p.S583L 1 0.170940171 ENSG00000133318 chr11:63720250-63720250;C/T missense_variant False RTN4@p.E330K 1 0.25 ENSG00000115310 chr2:55027111-55027111;C/T missense_variant False RTN4@p.E473K 1 0.376068376 ENSG00000115310 chr2:55026682-55026682;C/T missense_variant False RTN4@p.H1164Y 1 0.595744681 ENSG00000115310 chr2:54973609-54973609;G/A missense_variant False RTN4@p.K1016N 1 0.411764706 ENSG00000115310 chr2:54987664-54987664;C/G missense_variant False RTL8C@p.E42K 1 0.915789474 ENSG00000134590 chrX:135032507-135032507;G/A missense_variant False RTL8A@p.Q46H 1 0.35106383 ENSG00000203950 chrX:135051971-135051971;C/A missense_variant False RTCB@p.R125_T129del 1 0.269230769 ENSG00000100220 chr22:32401857-32401871;GGTTCTTAGCAAGCG/- inframe_deletion False RTEL1@p.S274L 1 0.195767196 ENSG00000258366 chr20:63673995-63673995;C/T missense_variant False RTKN2@p.E574K 1 0.545454545 ENSG00000182010 chr10:62198018-62198018;C/T missense_variant False RTKN2@p.E286K 1 0.138613861 ENSG00000182010 chr10:62218227-62218227;C/T missense_variant False RTF2@p.P211Q 1 0.202898551 ENSG00000022277 chr20:56516975-56516975;C/A missense_variant False RTF1@p.S171T 1 0.197044335 ENSG00000137815 chr15:41457725-41457725;T/A missense_variant False RTF1@p.E190K 1 0.100719424 ENSG00000137815 chr15:41457782-41457782;G/A missense_variant False RTEL1@p.S678F 1 0.235294118 ENSG00000258366 chr20:63689757-63689757;C/T missense_variant False RTEL1@p.R979W 1 0.104294479 ENSG00000258366 chr20:63693226-63693226;C/T missense_variant False RTL8A@p.D93N 1 0.380952381 ENSG00000203950 chrX:135051832-135051832;C/T missense_variant False RTEL1@p.R213Q 1 0.320261438 ENSG00000258366 chr20:63667492-63667492;G/A missense_variant False RTEL1@p.Q510H 1 0.407407407 ENSG00000258366 chr20:63687985-63687985;G/T missense_variant False RTEL1@p.I969M 1 0.153846154 ENSG00000258366 chr20:63693198-63693198;C/G missense_variant False RTEL1@p.E906Q 1 0.078431373 ENSG00000258366 chr20:63692868-63692868;G/C missense_variant False RTEL1@p.E326K 1 0.139534884 ENSG00000258366 chr20:63678285-63678285;G/A missense_variant False RTEL1@p.D926N 1 0.261764706 ENSG00000258366 chr20:63692928-63692928;G/A missense_variant False RTKN2@p.K173N 1 0.25 ENSG00000182010 chr10:62236233-62236233;C/A missense_variant False RTKN@p.E452K 1 0.5 ENSG00000114993 chr2:74427175-74427175;C/T missense_variant False RTKN@p.M324Dfs*23 1 0.283333333 ENSG00000114993 chr2:74428385-74428386;-/T frameshift_variant False RTKN@p.P345S 1 0.483443709 ENSG00000114993 chr2:74428321-74428321;G/A missense_variant False RTKN@p.R50L 1 0.129032258 ENSG00000114993 chr2:74432629-74432629;C/A missense_variant False RTL10@p.E328K 1 0.611111111 ENSG00000215012 chr22:19851280-19851280;C/T missense_variant False RTL1@p.D572H 1 0.380952381 ENSG00000254656 chr14:100883075-100883075;C/G missense_variant False RTL1@p.E591K 1 0.30952381 ENSG00000254656 chr14:100883018-100883018;C/T missense_variant False RTL3@p.D353N 1 0.875 ENSG00000179300 chrX:78657364-78657364;C/T missense_variant False RTL3@p.D410V 1 0.855072464 ENSG00000179300 chrX:78657192-78657192;T/A missense_variant False RTL3@p.H453L 1 0.454545455 ENSG00000179300 chrX:78657063-78657063;T/A missense_variant False RTL3@p.Q22E 1 0.277777778 ENSG00000179300 chrX:78658357-78658357;G/C missense_variant False RTL4@p.C71W 1 0.081967213 ENSG00000187823 chrX:112454941-112454941;C/G missense_variant False RTL4@p.P146R 1 0.114864865 ENSG00000187823 chrX:112455165-112455165;C/G missense_variant False RTL4@p.P301S 1 0.452830189 ENSG00000187823 chrX:112455629-112455629;C/T missense_variant False RTL4@p.R299P 1 0.592592593 ENSG00000187823 chrX:112455624-112455624;G/C missense_variant False RTL6@p.R33H 1 0.575757576 ENSG00000188636 chr22:44497459-44497459;C/T missense_variant False RXRA@p.L111Wfs*57 1 0.239130435 ENSG00000186350 chr9:134408194-134408194;C/- frameshift_variant False RXRA@p.M77Ifs*104 1 0.12345679 ENSG00000186350 chr9:134401832-134401833;-/T frameshift_variant False SALL1@p.E51Q 1 0.660714286 ENSG00000103449 chr16:51142071-51142071;C/G missense_variant False S1PR2@p.S37L 1 0.198863636 ENSG00000267534 chr19:10224796-10224796;G/A missense_variant False S1PR5@p.R229W 1 0.333333333 ENSG00000180739 chr19:10514327-10514327;G/A missense_variant False S1PR5@p.E2A 1 0.097560976 ENSG00000180739 chr19:10515007-10515007;T/G missense_variant False S1PR4@p.T252M 1 0.28358209 ENSG00000125910 chr19:3179547-3179547;C/T missense_variant False S1PR4@p.S364F 1 0.122137405 ENSG00000125910 chr19:3179883-3179883;C/T missense_variant False S1PR4@p.R362C 1 0.327433628 ENSG00000125910 chr19:3179876-3179876;C/T missense_variant False S1PR4@p.L229P 1 0.457831325 ENSG00000125910 chr19:3179478-3179478;T/C missense_variant False S1PR1@p.V264I 1 0.058064516 ENSG00000170989 chr1:101239774-101239774;G/A missense_variant False S100PBP@p.E43K 1 0.203296703 ENSG00000116497 chr1:32826226-32826226;G/A missense_variant False S1PR1@p.V132M 1 0.234375 ENSG00000170989 chr1:101239378-101239378;G/A missense_variant False S1PR1@p.S192C 1 0.32173913 ENSG00000170989 chr1:101239559-101239559;C/G missense_variant False S1PR1@p.L275V 1 0.135483871 ENSG00000170989 chr1:101239807-101239807;C/G missense_variant False S1PR1@p.E365K 1 0.086614173 ENSG00000170989 chr1:101240077-101240077;G/A missense_variant False S100PBP@p.S137C 1 0.15 ENSG00000116497 chr1:32826509-32826509;C/G missense_variant False S100PBP@p.R394Q 1 0.273684211 ENSG00000116497 chr1:32855992-32855992;G/A missense_variant False S1PR5@p.S162L 1 0.47826087 ENSG00000180739 chr19:10514527-10514527;G/A missense_variant False SAA1@p.E120Q 1 0.163265306 ENSG00000173432 chr11:18269844-18269844;G/C missense_variant False SAA1@p.I83M 1 0.306666667 ENSG00000173432 chr11:18269735-18269735;C/G missense_variant False SAA2-SAA4@p.I85F 1 0.367647059 ENSG00000255071 chr11:18235908-18235908;T/A missense_variant False SAA2-SAA4@p.S182F 1 0.354166667 ENSG00000255071 chr11:18231584-18231584;G/A missense_variant False SAA2@p.Q98E 1 0.071428571 ENSG00000134339 chr11:18245454-18245454;G/C missense_variant False SAA2@p.S40C 1 0.230769231 ENSG00000134339 chr11:18246021-18246021;G/C missense_variant False SAAL1@p.D147H 1 0.222222222 ENSG00000166788 chr11:18090468-18090468;C/G missense_variant False SAAL1@p.E64K 1 0.322916667 ENSG00000166788 chr11:18103292-18103292;C/T missense_variant False SAC3D1@p.E199K 1 0.197368421 ENSG00000168061 chr11:65044245-65044245;G/A missense_variant False SAC3D1@p.R334Q 1 0.358974359 ENSG00000168061 chr11:65044651-65044651;G/A missense_variant False SACM1L@p.E361Q 1 0.306122449 ENSG00000211456 chr3:45732132-45732132;G/C missense_variant False SACM1L@p.V581F 1 0.6875 ENSG00000211456 chr3:45743646-45743646;G/T missense_variant False SACM1L@p.W519C 1 0.076470588 ENSG00000211456 chr3:45738861-45738861;G/T missense_variant False SACM1L@p.W519L 1 0.076470588 ENSG00000211456 chr3:45738860-45738860;G/T missense_variant False SACS@p.A4188T 1 0.097560976 ENSG00000151835 chr13:23331314-23331314;C/T missense_variant False SACS@p.E1059Q 1 0.180451128 ENSG00000151835 chr13:23340701-23340701;C/G missense_variant False S100PBP@p.E57Q 1 0.146341463 ENSG00000116497 chr1:32826268-32826268;G/C missense_variant False S100PBP@p.D161H 1 0.243243243 ENSG00000116497 chr1:32826580-32826580;G/C missense_variant False SACS@p.E4152K 1 0.389261745 ENSG00000151835 chr13:23331422-23331422;C/T missense_variant False RYR3@p.M3640I 1 0.268292683 ENSG00000198838 chr15:33821530-33821530;G/A missense_variant False RYR3@p.R643W 1 0.266666667 ENSG00000198838 chr15:33603127-33603127;C/T missense_variant False RYR3@p.R626W 1 0.413793103 ENSG00000198838 chr15:33601506-33601506;C/T missense_variant False RYR3@p.R2913Nfs*6 1 0.092715232 ENSG00000198838 chr15:33768692-33768693;AG/- frameshift_variant False RYR3@p.R1867H 1 0.666666667 ENSG00000198838 chr15:33663718-33663718;G/A missense_variant False RYR3@p.Q33H 1 0.102941176 ENSG00000198838 chr15:33473466-33473466;G/C missense_variant False RYR3@p.P4005Q 1 0.40625 ENSG00000198838 chr15:33837997-33837997;C/A missense_variant False RYR3@p.M1257I 1 0.196969697 ENSG00000198838 chr15:33646356-33646356;G/A missense_variant False S100G@p.K5M 1 0.191011236 ENSG00000169906 chrX:16651020-16651020;A/T missense_variant False RYR3@p.M1229I 1 0.285714286 ENSG00000198838 chr15:33644441-33644441;G/A missense_variant False RYR3@p.L3054V 1 0.069767442 ENSG00000198838 chr15:33780236-33780236;C/G missense_variant False RYR3@p.L2380V 1 0.365384615 ENSG00000198838 chr15:33728964-33728964;C/G missense_variant False RYR3@p.L2291V 1 0.32 ENSG00000198838 chr15:33724138-33724138;C/G missense_variant False RYR3@p.L1903F 1 0.606060606 ENSG00000198838 chr15:33669441-33669441;C/T missense_variant False RYR3@p.I4729S 1 0.204545455 ENSG00000198838 chr15:33859621-33859621;T/G missense_variant False RYR3@p.S3814Y 1 0.466666667 ENSG00000198838 chr15:33831072-33831072;C/A missense_variant False RYR3@p.S4526C 1 0.122807018 ENSG00000198838 chr15:33848373-33848373;C/G missense_variant False RYR3@p.V1714A 1 0.25 ENSG00000198838 chr15:33662671-33662671;T/C missense_variant False RYR3@p.Y3579F 1 0.386054422 ENSG00000198838 chr15:33819788-33819788;A/T missense_variant False S100A14@p.E66Q 1 0.209876543 ENSG00000189334 chr1:153615004-153615004;C/G missense_variant False S100A14@p.G72R 1 0.465277778 ENSG00000189334 chr1:153614986-153614986;C/G missense_variant False S100A2@p.F79Sfs*46 1 0.267857143 ENSG00000196754 chr1:153561500-153561500;A/- frameshift_variant False S100A5@p.D90N 1 0.476923077 ENSG00000196420 chr1:153537307-153537307;C/T missense_variant False S100A5@p.S58I 1 0.226666667 ENSG00000196420 chr1:153537402-153537402;C/A missense_variant False S100A6@p.E67K 1 0.537037037 ENSG00000197956 chr1:153534770-153534770;C/T missense_variant False S100A6@p.M57I 1 0.10619469 ENSG00000197956 chr1:153534798-153534798;C/T missense_variant False S100A7@p.G51S 1 0.22826087 ENSG00000143556 chr1:153457961-153457961;C/T missense_variant False S100A7@p.Q5E 1 0.139534884 ENSG00000143556 chr1:153459001-153459001;G/C missense_variant False S100A7A@p.K64N 1 0.204081633 ENSG00000184330 chr1:153419195-153419195;G/C missense_variant False S100A7A@p.K68R 1 0.785714286 ENSG00000184330 chr1:153419206-153419206;A/G missense_variant False S100A8@p.L9F 1 0.196774194 ENSG00000143546 chr1:153390509-153390509;C/G missense_variant False S100A9@p.D71N 1 0.408163265 ENSG00000163220 chr1:153360704-153360704;G/A missense_variant False SACS@p.E1417K 1 0.130769231 ENSG00000151835 chr13:23339627-23339627;C/T missense_variant False SACS@p.E923dup 1 0.319327731 ENSG00000151835 chr13:23341106-23341107;-/TTC inframe_insertion False RYR3@p.G796V 1 0.080645161 ENSG00000198838 chr15:33623836-33623836;G/T missense_variant False SAFB@p.E534K 1 0.070588235 ENSG00000160633 chr19:5654134-5654134;G/A missense_variant False SAFB@p.S79F 1 0.181818182 ENSG00000160633 chr19:5626451-5626451;C/T missense_variant False SAFB@p.S594L 1 0.276595745 ENSG00000160633 chr19:5657266-5657266;C/T missense_variant False SAFB@p.R624C 1 0.268292683 ENSG00000160633 chr19:5661525-5661525;C/T missense_variant False SAFB@p.G881R 1 0.371428571 ENSG00000160633 chr19:5668184-5668184;G/A missense_variant False SAFB@p.G445A 1 0.425531915 ENSG00000160633 chr19:5653155-5653155;G/C missense_variant False SAFB@p.E561K 1 0.081545064 ENSG00000160633 chr19:5654382-5654382;G/A missense_variant False SAFB@p.D908Y 1 0.15 ENSG00000160633 chr19:5668265-5668265;G/T missense_variant False SAE1@p.R38W 1 0.465517241 ENSG00000142230 chr19:47143507-47143507;C/T missense_variant False SAFB@p.D908N 1 0.325581395 ENSG00000160633 chr19:5668265-5668265;G/A missense_variant False SAFB@p.D908H 1 0.135135135 ENSG00000160633 chr19:5668265-5668265;G/C missense_variant False SAFB2@p.M131I 1 0.305555556 ENSG00000130254 chr19:5616282-5616282;C/T missense_variant False SAFB2@p.I465M 1 0.375 ENSG00000130254 chr19:5604838-5604838;G/C missense_variant False SAFB2@p.D793H 1 0.205882353 ENSG00000130254 chr19:5591765-5591765;C/G missense_variant False SAFB2@p.D459N 1 0.162790698 ENSG00000130254 chr19:5604858-5604858;C/T missense_variant False SAG@p.E152Q 1 0.179487179 ENSG00000130561 chr2:233327139-233327139;G/C missense_variant False SAG@p.R294S 1 0.181818182 ENSG00000130561 chr2:233335037-233335037;G/C missense_variant False SAGE1@p.E114K 1 0.85 ENSG00000181433 chrX:135905278-135905278;G/A missense_variant False SAGE1@p.H137N 1 0.918032787 ENSG00000181433 chrX:135905347-135905347;C/A missense_variant False SAGE1@p.K63N 1 0.058333333 ENSG00000181433 chrX:135901660-135901660;G/C missense_variant False SAGE1@p.M146I 1 0.901960784 ENSG00000181433 chrX:135905376-135905376;G/A missense_variant False SAGE1@p.M240I 1 0.883116883 ENSG00000181433 chrX:135906535-135906535;G/A missense_variant False SAGE1@p.M446I 1 0.189873418 ENSG00000181433 chrX:135908514-135908514;G/A missense_variant False SAGE1@p.Q686K 1 0.081395349 ENSG00000181433 chrX:135911242-135911242;C/A missense_variant False SAGE1@p.R116S 1 0.170731707 ENSG00000181433 chrX:135905286-135905286;G/T missense_variant False SALL1@p.A214V 1 0.077777778 ENSG00000103449 chr16:51141581-51141581;G/A missense_variant False SALL1@p.A387P 1 0.15625 ENSG00000103449 chr16:51141063-51141063;C/G missense_variant False SALL1@p.A646P 1 0.441860465 ENSG00000103449 chr16:51140286-51140286;C/G missense_variant False SALL1@p.A672T 1 0.413793103 ENSG00000103449 chr16:51140208-51140208;C/T missense_variant False SALL1@p.D819H 1 0.442982456 ENSG00000103449 chr16:51139767-51139767;C/G missense_variant False SALL1@p.E1251K 1 0.13 ENSG00000103449 chr16:51137336-51137336;C/T missense_variant False SALL1@p.E515Q 1 0.297297297 ENSG00000103449 chr16:51140679-51140679;C/G missense_variant False SAE1@p.S297F 1 0.641791045 ENSG00000142230 chr19:47203682-47203682;C/T missense_variant False SAE1@p.R255I 1 0.347826087 ENSG00000142230 chr19:47197263-47197263;G/T missense_variant False SACS@p.F1003L 1 0.458015267 ENSG00000151835 chr13:23340867-23340867;A/C missense_variant False SACS@p.L1177V 1 0.530864198 ENSG00000151835 chr13:23340347-23340347;G/C missense_variant False SACS@p.M2806V 1 0.142857143 ENSG00000151835 chr13:23335460-23335460;T/C missense_variant False SACS@p.L3679V 1 0.1875 ENSG00000151835 chr13:23332841-23332841;G/C missense_variant False SACS@p.L3462I 1 0.119047619 ENSG00000151835 chr13:23333492-23333492;G/T missense_variant False SACS@p.L2970V 1 0.450381679 ENSG00000151835 chr13:23334968-23334968;G/C missense_variant False SACS@p.L1341F 1 0.428571429 ENSG00000151835 chr13:23339855-23339855;G/A missense_variant False SACS@p.L1263V 1 0.28125 ENSG00000151835 chr13:23340089-23340089;G/C missense_variant False SACS@p.L1053I 1 0.326666667 ENSG00000151835 chr13:23340719-23340719;G/T missense_variant False SAE1@p.L55F 1 0.168141593 ENSG00000142230 chr19:47143558-47143558;C/T missense_variant False SACS@p.K520N 1 0.359116022 ENSG00000151835 chr13:23355052-23355052;C/G missense_variant False SACS@p.K238E 1 0.957142857 ENSG00000151835 chr13:23355900-23355900;T/C missense_variant False SACS@p.I3015F 1 0.380434783 ENSG00000151835 chr13:23334833-23334833;T/A missense_variant False SACS@p.I1058L 1 0.277777778 ENSG00000151835 chr13:23340704-23340704;T/A missense_variant False SACS@p.H1262D 1 0.538461538 ENSG00000151835 chr13:23340092-23340092;G/C missense_variant False SACS@p.F4432L 1 0.27388535 ENSG00000151835 chr13:23330580-23330580;G/C missense_variant False SACS@p.P1028A 1 0.141791045 ENSG00000151835 chr13:23340794-23340794;G/C missense_variant False SACS@p.P1615L 1 0.321428571 ENSG00000151835 chr13:23339032-23339032;G/A missense_variant False SACS@p.P3346H 1 0.072289157 ENSG00000151835 chr13:23333839-23333839;G/T missense_variant False SACS@p.Q1651E 1 0.202898551 ENSG00000151835 chr13:23338925-23338925;G/C missense_variant False SACS@p.Q2211E 1 0.222222222 ENSG00000151835 chr13:23337245-23337245;G/C missense_variant False SACS@p.Q3669E 1 0.216666667 ENSG00000151835 chr13:23332871-23332871;G/C missense_variant False SACS@p.Q4253E 1 0.12195122 ENSG00000151835 chr13:23331119-23331119;G/C missense_variant False SACS@p.R1929W 1 0.268292683 ENSG00000151835 chr13:23338091-23338091;G/A missense_variant False SACS@p.R2898H 1 0.114942529 ENSG00000151835 chr13:23335183-23335183;C/T missense_variant False SACS@p.R3184H 1 0.458333333 ENSG00000151835 chr13:23334325-23334325;C/T missense_variant False SACS@p.R3788C 1 0.367088608 ENSG00000151835 chr13:23332514-23332514;G/A missense_variant False SACS@p.S3920T 1 0.053892216 ENSG00000151835 chr13:23332117-23332117;C/G missense_variant False SACS@p.S4281C 1 0.24137931 ENSG00000151835 chr13:23331034-23331034;G/C missense_variant False SACS@p.S4423L 1 0.082089552 ENSG00000151835 chr13:23330608-23330608;G/A missense_variant False SACS@p.S940C 1 0.3 ENSG00000151835 chr13:23341057-23341057;G/C missense_variant False SACS@p.V1422M 1 0.305785124 ENSG00000151835 chr13:23339612-23339612;C/T missense_variant False SACS@p.V3940M 1 0.192857143 ENSG00000151835 chr13:23332058-23332058;C/T missense_variant False RYR3@p.H1758R 1 0.149122807 ENSG00000198838 chr15:33662803-33662803;A/G missense_variant False RYR3@p.G2262R 1 0.221153846 ENSG00000198838 chr15:33722879-33722879;G/A missense_variant False RXRA@p.P231L 1 0.276595745 ENSG00000186350 chr9:134417239-134417239;C/T missense_variant False RYR1@p.P672T 1 0.074829932 ENSG00000196218 chr19:38458139-38458139;C/A missense_variant False RYR1@p.R682W 1 0.488764045 ENSG00000196218 chr19:38458169-38458169;C/T missense_variant False RYR1@p.R492C 1 0.375 ENSG00000196218 chr19:38455268-38455268;C/T missense_variant False RYR1@p.R2403H 1 0.333333333 ENSG00000196218 chr19:38499815-38499815;G/A missense_variant False RYR1@p.R2359Q 1 0.393939394 ENSG00000196218 chr19:38499683-38499683;G/A missense_variant False RYR1@p.Q3905P 1 0.154228856 ENSG00000196218 chr19:38543371-38543371;A/C missense_variant False RYR1@p.Q1692E 1 0.341269841 ENSG00000196218 chr19:38485729-38485729;C/G missense_variant False RYR1@p.P4522A 1 0.080536913 ENSG00000196218 chr19:38567822-38567822;C/G missense_variant False RYR1@p.K1567R 1 0.12 ENSG00000196218 chr19:38483106-38483106;A/G missense_variant False RYR1@p.P2631S 1 0.138888889 ENSG00000196218 chr19:38502935-38502935;C/T missense_variant False RYR1@p.N494H 1 0.429752066 ENSG00000196218 chr19:38455274-38455274;A/C missense_variant False RYR1@p.N3850H 1 0.36 ENSG00000196218 chr19:38536028-38536028;A/C missense_variant False RYR1@p.L4802F 1 0.708333333 ENSG00000196218 chr19:38580023-38580023;G/T missense_variant False RYR1@p.L3553V 1 0.103773585 ENSG00000196218 chr19:38527023-38527023;C/G missense_variant False RYR1@p.L292H 1 0.070967742 ENSG00000196218 chr19:38448429-38448429;T/A missense_variant False RYR1@p.S125F 1 0.097826087 ENSG00000196218 chr19:38443746-38443746;C/T missense_variant False RYR1@p.S1770L 1 0.103092784 ENSG00000196218 chr19:38485964-38485964;C/T missense_variant False RYR1@p.S193F 1 0.24 ENSG00000196218 chr19:38444624-38444624;C/T missense_variant False RYR1@p.S1985I 1 0.142857143 ENSG00000196218 chr19:38490215-38490215;G/T missense_variant False RYR1@p.S257F 1 0.329411765 ENSG00000196218 chr19:38446738-38446738;C/T missense_variant False RYR1@p.S3928C 1 0.323529412 ENSG00000196218 chr19:38543536-38543536;C/G missense_variant False RYR1@p.T433M 1 0.5625 ENSG00000196218 chr19:38452872-38452872;C/T missense_variant False RYR1@p.V1415M 1 0.393442623 ENSG00000196218 chr19:38475400-38475400;G/A missense_variant False RYR2@p.A1210D 1 0.363636364 ENSG00000198626 chr1:237589823-237589823;C/A missense_variant False RYR2@p.A165V 1 0.214285714 ENSG00000198626 chr1:237377353-237377353;C/T missense_variant False RYR2@p.A1675V 1 0.25 ENSG00000198626 chr1:237614152-237614152;C/T missense_variant False RYR2@p.A2889V 1 0.166666667 ENSG00000198626 chr1:237674171-237674171;C/T missense_variant False RYR2@p.A3756V 1 0.538461538 ENSG00000198626 chr1:237757718-237757718;C/T missense_variant False RYR2@p.A4216V 1 0.405405405 ENSG00000198626 chr1:237784359-237784359;C/T missense_variant False RYR2@p.A4916T 1 0.360655738 ENSG00000198626 chr1:237830620-237830620;G/A missense_variant False RYR2@p.C2402S 1 0.416666667 ENSG00000198626 chr1:237640986-237640986;G/C missense_variant False RYR2@p.D1362N 1 0.227272727 ENSG00000198626 chr1:237590916-237590916;G/A missense_variant False RYR1@p.K4090N 1 0.376811594 ENSG00000196218 chr19:38548408-38548408;G/C missense_variant False RYR1@p.I2242M 1 0.441558442 ENSG00000196218 chr19:38496471-38496471;C/G missense_variant False RYR2@p.D3457N 1 0.333333333 ENSG00000198626 chr1:237717243-237717243;G/A missense_variant False RXRG@p.M9V 1 0.328358209 ENSG00000143171 chr1:165444869-165444869;T/C missense_variant False RXYLT1@p.M286I 1 0.328947368 ENSG00000118600 chr12:63805348-63805348;G/A missense_variant False RXYLT1@p.E409K 1 0.138888889 ENSG00000118600 chr12:63808985-63808985;G/A missense_variant False RXYLT1@p.E209Q 1 0.176470588 ENSG00000118600 chr12:63802287-63802287;G/C missense_variant False RXRG@p.S75Y 1 0.365384615 ENSG00000143171 chr1:165428792-165428792;G/T missense_variant False RXRG@p.R427H 1 0.189189189 ENSG00000143171 chr1:165401375-165401375;C/T missense_variant False RXRG@p.R217Q 1 0.25 ENSG00000143171 chr1:165411082-165411082;C/T missense_variant False RXRG@p.I172M 1 0.117647059 ENSG00000143171 chr1:165417147-165417147;G/C missense_variant False RYR1@p.H4887Y 1 0.283950617 ENSG00000196218 chr19:38584955-38584955;C/T missense_variant False RXRG@p.G324V 1 0.25 ENSG00000143171 chr1:165409633-165409633;C/A missense_variant False RXRG@p.F440L 1 0.329608939 ENSG00000143171 chr1:165401335-165401335;G/C missense_variant False RXRB@p.R231C 1 0.884615385 ENSG00000204231 chr6:33197891-33197891;G/A missense_variant False RXRB@p.L446V 1 0.517647059 ENSG00000204231 chr6:33195375-33195375;G/C missense_variant False RXRB@p.I207M 1 0.234567901 ENSG00000204231 chr6:33198327-33198327;G/C missense_variant False RXRA@p.S27C 1 0.298850575 ENSG00000186350 chr9:134401683-134401683;C/G missense_variant False RXYLT1@p.N186H 1 0.051282051 ENSG00000118600 chr12:63802218-63802218;A/C missense_variant False RYBP@p.E75Q 1 0.176470588 ENSG00000163602 chr3:72379333-72379333;C/G missense_variant False RYBP@p.E87Q 1 0.094736842 ENSG00000163602 chr3:72379297-72379297;C/G missense_variant False RYR1@p.A4940S 1 0.342105263 ENSG00000196218 chr19:38585952-38585952;G/T missense_variant False RYR1@p.C1517F 1 0.457142857 ENSG00000196218 chr19:38478530-38478530;G/T missense_variant False RYR1@p.D1117N 1 0.223214286 ENSG00000196218 chr19:38467780-38467780;G/A missense_variant False RYR1@p.D3242Y 1 0.064516129 ENSG00000196218 chr19:38517397-38517397;G/T missense_variant False RYR1@p.E2371K 1 0.5 ENSG00000196218 chr19:38499718-38499718;G/A missense_variant False RYR1@p.E2545K 1 0.210526316 ENSG00000196218 chr19:38502525-38502525;G/A missense_variant False RYR1@p.E3086Dfs*69 1 0.358208955 ENSG00000196218 chr19:38512267-38512268;GA/- frameshift_variant False RYR1@p.E3736K 1 0.305555556 ENSG00000196218 chr19:38532683-38532683;G/A missense_variant False RYR1@p.E4010Q 1 0.282608696 ENSG00000196218 chr19:38546460-38546460;G/C missense_variant False RYR1@p.E4226K 1 0.341463415 ENSG00000196218 chr19:38565010-38565010;G/A missense_variant False RYR1@p.E4677Q 1 0.217391304 ENSG00000196218 chr19:38573207-38573207;G/C missense_variant False RYR1@p.E664Q 1 0.290322581 ENSG00000196218 chr19:38458115-38458115;G/C missense_variant False RYR1@p.E812Q 1 0.217391304 ENSG00000196218 chr19:38460448-38460448;G/C missense_variant False RYR1@p.F2997L 1 0.436507937 ENSG00000196218 chr19:38510556-38510556;C/A missense_variant False RYR2@p.D2909E 1 0.178571429 ENSG00000198626 chr1:237674743-237674743;C/G missense_variant False RYR2@p.E2329K 1 0.388888889 ENSG00000198626 chr1:237639071-237639071;G/A missense_variant False RYR3@p.G2239R 1 0.160493827 ENSG00000198838 chr15:33722810-33722810;G/A missense_variant False RYR2@p.V4319D 1 0.138297872 ENSG00000198626 chr1:237784668-237784668;T/A missense_variant False RYR3@p.D2592Mfs*14 1 0.415384615 ENSG00000198838 chr15:33739951-33739951;G/- frameshift_variant False RYR3@p.D2013N 1 0.166666667 ENSG00000198838 chr15:33696394-33696394;G/A missense_variant False RYR3@p.A3255V 1 0.146788991 ENSG00000198838 chr15:33788395-33788395;C/T missense_variant False RYR2@p.Y2923N 1 0.35483871 ENSG00000198626 chr1:237674783-237674783;T/A missense_variant False RYR2@p.Y1427N 1 0.209677419 ENSG00000198626 chr1:237593479-237593479;T/A missense_variant False RYR2@p.V894I 1 0.648648649 ENSG00000198626 chr1:237506776-237506776;G/A missense_variant False RYR2@p.V4125I 1 0.191919192 ENSG00000198626 chr1:237784085-237784085;G/A missense_variant False RYR2@p.R480Q 1 0.142857143 ENSG00000198626 chr1:237454537-237454537;G/A missense_variant False RYR2@p.V2524I 1 0.276422764 ENSG00000198626 chr1:237649934-237649934;G/A missense_variant False RYR2@p.S74C 1 0.318181818 ENSG00000198626 chr1:237330930-237330930;C/G missense_variant False RYR2@p.S4141R 1 0.219512195 ENSG00000198626 chr1:237784135-237784135;C/A missense_variant False RYR2@p.S3542L 1 0.198019802 ENSG00000198626 chr1:237723198-237723198;C/T missense_variant False RYR2@p.S3270L 1 0.133333333 ENSG00000198626 chr1:237707177-237707177;C/T missense_variant False RYR2@p.S2694L 1 0.323529412 ENSG00000198626 chr1:237655936-237655936;C/T missense_variant False RYR3@p.D2920N 1 0.263736264 ENSG00000198838 chr15:33769117-33769117;G/A missense_variant False RYR3@p.D3238N 1 0.615384615 ENSG00000198838 chr15:33788343-33788343;G/A missense_variant False RYR3@p.D3402H 1 0.25 ENSG00000198838 chr15:33810987-33810987;G/C missense_variant False RYR3@p.D4007N 1 0.475247525 ENSG00000198838 chr15:33838002-33838002;G/A missense_variant False RYR3@p.E1077K 1 0.31372549 ENSG00000198838 chr15:33635667-33635667;G/A missense_variant False RYR3@p.E1182D 1 0.413333333 ENSG00000198838 chr15:33636540-33636540;G/C missense_variant False RYR3@p.E1319K 1 0.206896552 ENSG00000198838 chr15:33647437-33647437;G/A missense_variant False RYR3@p.E2037K 1 0.555555556 ENSG00000198838 chr15:33696466-33696466;G/A missense_variant False RYR3@p.E2690Q 1 0.173333333 ENSG00000198838 chr15:33748195-33748195;G/C missense_variant False RYR3@p.E2812D 1 0.2 ENSG00000198838 chr15:33755104-33755104;G/C missense_variant False RYR3@p.E3166K 1 0.397260274 ENSG00000198838 chr15:33785892-33785892;G/A missense_variant False RYR3@p.E3525K 1 0.25 ENSG00000198838 chr15:33816935-33816935;G/A missense_variant False RYR3@p.E3957K 1 0.180555556 ENSG00000198838 chr15:33837852-33837852;G/A missense_variant False RYR3@p.E571Q 1 0.345454545 ENSG00000198838 chr15:33586039-33586039;G/C missense_variant False RYR3@p.E578K 1 0.115384615 ENSG00000198838 chr15:33586060-33586060;G/A missense_variant False RYR3@p.F1457Y 1 0.441176471 ENSG00000198838 chr15:33659781-33659781;T/A missense_variant False RYR3@p.G1600S 1 0.285714286 ENSG00000198838 chr15:33662328-33662328;G/A missense_variant False RYR2@p.R844T 1 0.379310345 ENSG00000198626 chr1:237503423-237503423;G/C missense_variant False RYR2@p.R3506Q 1 0.3 ENSG00000198626 chr1:237718484-237718484;G/A missense_variant False RYR2@p.E4064K 1 0.304347826 ENSG00000198626 chr1:237783902-237783902;G/A missense_variant False RYR2@p.G1435E 1 0.114754098 ENSG00000198626 chr1:237593504-237593504;G/A missense_variant False RYR2@p.I4862M 1 0.256410256 ENSG00000198626 chr1:237819188-237819188;A/G missense_variant False RYR2@p.I4094M 1 0.822222222 ENSG00000198626 chr1:237783994-237783994;C/G missense_variant False RYR2@p.H1805Y 1 0.122222222 ENSG00000198626 chr1:237614541-237614541;C/T missense_variant False RYR2@p.G2993E 1 0.48 ENSG00000198626 chr1:237680538-237680538;G/A missense_variant False RYR2@p.G2414A 1 0.215311005 ENSG00000198626 chr1:237643346-237643346;G/C missense_variant False RYR2@p.G220R 1 0.426470588 ENSG00000198626 chr1:237387362-237387362;G/A missense_variant False RYR2@p.F4850L 1 0.550724638 ENSG00000198626 chr1:237819152-237819152;C/A missense_variant False RYR2@p.R3364K 1 0.294117647 ENSG00000198626 chr1:237709047-237709047;G/A missense_variant False RYR2@p.F4786L 1 0.248031496 ENSG00000198626 chr1:237808960-237808960;C/A missense_variant False RYR2@p.F4291L 1 0.2 ENSG00000198626 chr1:237784585-237784585;C/G missense_variant False RYR2@p.F1979L 1 0.088235294 ENSG00000198626 chr1:237623785-237623785;T/G missense_variant False RYR2@p.F145C 1 0.607142857 ENSG00000198626 chr1:237374766-237374766;T/G missense_variant False RYR2@p.F1433L 1 0.235294118 ENSG00000198626 chr1:237593497-237593497;T/C missense_variant False RYR2@p.E4154K 1 0.293478261 ENSG00000198626 chr1:237784172-237784172;G/A missense_variant False RYR2@p.K2104N 1 0.311111111 ENSG00000198626 chr1:237627952-237627952;G/C missense_variant False RYR2@p.K4143E 1 0.418604651 ENSG00000198626 chr1:237784139-237784139;A/G missense_variant False RYR2@p.K4324R 1 0.076923077 ENSG00000198626 chr1:237784683-237784683;A/G missense_variant False RYR2@p.L211F 1 0.151785714 ENSG00000198626 chr1:237387335-237387335;C/T missense_variant False RYR2@p.L4253F 1 0.139534884 ENSG00000198626 chr1:237784471-237784471;G/C missense_variant False RYR2@p.L4769Pfs*5 1 0.164634146 ENSG00000198626 chr1:237808906-237808909;ATTA/- frameshift_variant False RYR2@p.L499P 1 0.272727273 ENSG00000198626 chr1:237456619-237456619;T/C missense_variant False RYR2@p.M4672I 1 0.173913043 ENSG00000198626 chr1:237798096-237798096;G/A missense_variant False RYR2@p.N3770Y 1 0.266666667 ENSG00000198626 chr1:237757759-237757759;A/T missense_variant False RYR2@p.N3992K 1 0.307692308 ENSG00000198626 chr1:237783688-237783688;T/A missense_variant False RYR2@p.P1780T 1 0.414285714 ENSG00000198626 chr1:237614466-237614466;C/A missense_variant False RYR2@p.P1969T 1 0.067073171 ENSG00000198626 chr1:237617475-237617475;C/A missense_variant False RYR2@p.P4337R 1 0.423076923 ENSG00000198626 chr1:237784722-237784722;C/G missense_variant False RYR2@p.Q3114H 1 0.647058824 ENSG00000198626 chr1:237700442-237700442;G/T missense_variant False RYR2@p.R1383C 1 0.111111111 ENSG00000198626 chr1:237590979-237590979;C/T missense_variant False RYR2@p.R1614H 1 0.212121212 ENSG00000198626 chr1:237610919-237610919;G/A missense_variant False RYR2@p.R298H 1 0.458333333 ENSG00000198626 chr1:237423136-237423136;G/A missense_variant False RICTOR@p.G1117E 1 0.06122449 ENSG00000164327 chr5:38950498-38950498;C/T missense_variant False RICTOR@p.E1690K 1 0.051612903 ENSG00000164327 chr5:38942363-38942363;C/T missense_variant False PTK2@p.E403K 1 0.163879599 ENSG00000169398 chr8:140764261-140764261;C/T missense_variant False RABGAP1L@p.A192V 1 0.315789474 ENSG00000152061 chr1:174241515-174241515;C/T missense_variant False RABGEF1@p.D279H 1 0.484375 ENSG00000154710 chr7:66799390-66799390;G/C missense_variant False RABGAP1L@p.S193C 1 0.1875 ENSG00000152061 chr1:174241518-174241518;C/G missense_variant False RABGAP1L@p.P120A 1 0.219512195 ENSG00000152061 chr1:174231171-174231171;C/G missense_variant False RABGAP1L@p.F426L 1 0.312621359 ENSG00000152061 chr1:174278734-174278734;C/G missense_variant False RABGAP1L@p.E467Q 1 0.09375 ENSG00000152061 chr1:174305061-174305061;G/C missense_variant False RABGAP1L@p.D614N 1 0.21875 ENSG00000152061 chr1:174683537-174683537;G/A missense_variant False RABGAP1@p.M407I 1 0.771084337 ENSG00000188394 chr9:122998613-122998613;G/A missense_variant False RABGEF1@p.E410K 1 0.634146341 ENSG00000154710 chr7:66808997-66808997;G/A missense_variant False RABGAP1@p.E664K 1 0.033898305 ENSG00000188394 chr9:123073558-123073558;G/A missense_variant False RABGAP1@p.E644D 1 0.159663866 ENSG00000188394 chr9:123070373-123070373;G/C missense_variant False RABEPK@p.R113Q 1 0.457831325 ENSG00000136933 chr9:125213496-125213496;G/A missense_variant False RABEPK@p.E324Q 1 0.836363636 ENSG00000136933 chr9:125233831-125233831;G/C missense_variant False RABEPK@p.D365N 1 0.448780488 ENSG00000136933 chr9:125233954-125233954;G/A missense_variant False RABEP2@p.V243F 1 0.540540541 ENSG00000177548 chr16:28914403-28914403;C/A missense_variant False RABGEF1@p.E245K 1 0.307692308 ENSG00000154710 chr7:66797472-66797472;G/A missense_variant False RABGEF1@p.E435Q 1 0.346153846 ENSG00000154710 chr7:66809072-66809072;G/C missense_variant False RAPH1@p.S17R 1 0.524475524 ENSG00000173166 chr2:203495305-203495305;T/G missense_variant False RABIF@p.D61N 1 0.333333333 ENSG00000183155 chr1:202881169-202881169;C/T missense_variant False RABL6@p.G219C 1 0.392156863 ENSG00000196642 chr9:136832320-136832320;G/T missense_variant False RABL6@p.E448K 1 0.333333333 ENSG00000196642 chr9:136838970-136838970;G/A missense_variant False RABL3@p.R108C 1 0.4 ENSG00000144840 chr3:120706061-120706061;G/A missense_variant False RABL2B@p.E217D 1 0.191489362 ENSG00000144134 chr22:50768812-50768812;C/G missense_variant False RABL2A@p.T164A 1 0.218045113 ENSG00000144134 chr2:113641436-113641436;A/G missense_variant False RABL2A@p.F145L 1 0.474358974 ENSG00000144134 chr2:113641381-113641381;C/G missense_variant False RABGGTB@p.M60I 1 0.111111111 ENSG00000137955 chr1:75789227-75789227;G/A missense_variant False RABGEF1@p.M14I 1 0.166666667 ENSG00000154710 chr7:66771902-66771902;G/A missense_variant False RABGGTB@p.D92H 1 0.067567568 ENSG00000137955 chr1:75789321-75789321;G/C missense_variant False RABGGTB@p.C174S 1 0.156462585 ENSG00000137955 chr1:75791512-75791512;T/A missense_variant False RABGGTA@p.R393Q 1 0.451612903 ENSG00000100949 chr14:24267928-24267928;C/T missense_variant False RABGGTA@p.L129R 1 0.323529412 ENSG00000100949 chr14:24269994-24269994;A/C missense_variant False RABGGTA@p.D344N 1 0.189655172 ENSG00000100949 chr14:24268397-24268397;C/T missense_variant False RABGEF1@p.Y397C 1 0.109589041 ENSG00000154710 chr7:66808959-66808959;A/G missense_variant False RABEP2@p.T561R 1 0.101851852 ENSG00000177548 chr16:28904971-28904971;G/C missense_variant False RABEP2@p.R153W 1 0.137931034 ENSG00000177548 chr16:28914758-28914758;G/A missense_variant False RABEP2@p.E65D 1 0.052173913 ENSG00000177548 chr16:28924482-28924482;C/G missense_variant False RAB5A@p.S107F 1 0.394736842 ENSG00000144566 chr3:19976051-19976051;C/T missense_variant False RAB6A@p.E73K 1 0.446153846 ENSG00000175582 chr11:73718685-73718685;C/T missense_variant False RAB5C@p.I174M 1 0.1875 ENSG00000108774 chr17:42126768-42126768;G/C missense_variant False RAB5C@p.E162Q 1 0.162650602 ENSG00000108774 chr17:42126806-42126806;C/G missense_variant False RAB5B@p.M168I 1 0.107142857 ENSG00000111540 chr12:55991425-55991425;G/A missense_variant False RAB5B@p.E28K 1 0.475409836 ENSG00000111540 chr12:55987042-55987042;G/A missense_variant False RAB5B@p.D172V 1 0.38372093 ENSG00000111540 chr12:55991436-55991436;A/T missense_variant False RAB5A@p.R4P 1 0.148148148 ENSG00000144566 chr3:19950909-19950909;G/C missense_variant False RABEP1@p.R75Q 1 0.138211382 ENSG00000029725 chr17:5332009-5332009;G/A missense_variant False RAB4B@p.E156K 1 0.305555556 ENSG00000167578 chr19:40786700-40786700;G/A missense_variant False RAB42@p.D62N 1 0.684210526 ENSG00000188060 chr1:28593983-28593983;G/A missense_variant False RAB40C@p.Q271Pfs*7 1 0.383333333 ENSG00000197562 chr16:627579-627580;-/C frameshift_variant False RAB40B@p.G230R 1 0.144278607 ENSG00000141542 chr17:82658012-82658012;C/G missense_variant False RAB40B@p.E154Q 1 0.285714286 ENSG00000141542 chr17:82658596-82658596;C/G missense_variant False RAB40AL@p.K111N 1 0.652173913 ENSG00000102128 chrX:102937651-102937651;G/T missense_variant False RAB6A@p.I95N 1 0.388888889 ENSG00000175582 chr11:73718618-73718618;A/T missense_variant False RAB6A@p.N126T 1 0.476923077 ENSG00000175582 chr11:73716275-73716275;T/G missense_variant False RAB6A@p.Q197E 1 0.236111111 ENSG00000175582 chr11:73677936-73677936;G/C missense_variant False RAB6B@p.F18L 1 0.531034483 ENSG00000154917 chr3:133895413-133895413;G/T missense_variant False RAB6C@p.E142D 1 0.335106383 ENSG00000222014 chr2:129980541-129980541;G/C missense_variant False RAB6C@p.L130F 1 0.053571429 ENSG00000222014 chr2:129980503-129980503;C/T missense_variant False RAB6D@p.R112K 1 0.112107623 ENSG00000233087 chr2:131363386-131363386;C/T missense_variant False RAB8A@p.C23R 1 0.218181818 ENSG00000167461 chr19:16111968-16111968;T/C missense_variant False RAB8A@p.D44Y 1 0.224137931 ENSG00000167461 chr19:16118231-16118231;G/T missense_variant False RAB8B@p.I38M 1 0.226415094 ENSG00000166128 chr15:63189738-63189738;C/G missense_variant False RAB8B@p.R71Q 1 0.275 ENSG00000166128 chr15:63249671-63249671;G/A missense_variant False RAB9B@p.D127N 1 0.607734807 ENSG00000123570 chrX:103825406-103825406;C/T missense_variant False RAB9B@p.E129K 1 0.497487437 ENSG00000123570 chrX:103825400-103825400;C/T missense_variant False RABAC1@p.E62Q 1 0.285714286 ENSG00000105404 chr19:41958821-41958821;C/G missense_variant False RABEP1@p.Q32R 1 0.463414634 ENSG00000029725 chr17:5308754-5308754;A/G missense_variant False RABEP1@p.Q808H 1 0.157894737 ENSG00000029725 chr17:5381442-5381442;G/C missense_variant False RABEP1@p.R332I 1 0.243902439 ENSG00000029725 chr17:5354390-5354390;G/T missense_variant False RABL6@p.K95Rfs*7 1 0.358078603 ENSG00000196642 chr9:136825795-136825795;G/- frameshift_variant False RAC1@p.D63N 1 0.24137931 ENSG00000136238 chr7:6392003-6392003;G/A missense_variant False RAC1@p.L53V 1 0.06097561 ENSG00000136238 chr7:6391973-6391973;C/G missense_variant False RAD23B@p.L401F 1 0.350649351 ENSG00000119318 chr9:107329627-107329627;C/T missense_variant False RAD50@p.E431Q 1 0.258064516 ENSG00000113522 chr5:132589676-132589676;G/C missense_variant False RAD50@p.E259Q 1 0.111111111 ENSG00000113522 chr5:132587580-132587580;G/C missense_variant False RAD50@p.D69N 1 0.203703704 ENSG00000113522 chr5:132559359-132559359;G/A missense_variant False RAD50@p.D1177H 1 0.666666667 ENSG00000113522 chr5:132638134-132638134;G/C missense_variant False RAD50@p.A149Gfs*10 1 0.1875 ENSG00000113522 chr5:132579397-132579410;CTGTGCTAAATAAT/- frameshift_variant False RAD23B@p.Q305H 1 0.26984127 ENSG00000119318 chr9:107323987-107323987;G/C missense_variant False RAD23B@p.I30_S32del 1 0.220588235 ENSG00000119318 chr9:107300162-107300170;ATTGAATCT/- inframe_deletion False RAD21@p.K335N 1 0.205128205 ENSG00000164754 chr8:116854401-116854401;C/G missense_variant False RAD23A@p.S86L 1 0.257142857 ENSG00000179262 chr19:12948199-12948199;C/T missense_variant False RAD23A@p.I61M 1 0.446428571 ENSG00000179262 chr19:12947958-12947958;C/G missense_variant False RAD23A@p.E345K 1 0.057377049 ENSG00000179262 chr19:12952990-12952990;G/A missense_variant False RAD23A@p.E126Q 1 0.064705882 ENSG00000179262 chr19:12948318-12948318;G/C missense_variant False RAD21@p.P517Q 1 0.267123288 ENSG00000164754 chr8:116850688-116850688;G/T missense_variant False RAD21@p.P473Nfs*2 1 0.096774194 ENSG00000164754 chr8:116851973-116852001;TGTCCAGCTTTTCGCTTAACTCCCTGAGG/- frameshift_variant False RAD50@p.E468K 1 0.388888889 ENSG00000113522 chr5:132589787-132589787;G/A missense_variant False RAD50@p.E75Q 1 0.090909091 ENSG00000113522 chr5:132575786-132575786;G/C missense_variant False RAD50@p.F156L 1 0.053333333 ENSG00000113522 chr5:132579419-132579419;C/G missense_variant False RAD50@p.G145R 1 0.339285714 ENSG00000113522 chr5:132579384-132579384;G/C missense_variant False RAD50@p.K722Rfs*14 1 0.1625 ENSG00000113522 chr5:132595760-132595760;A/- frameshift_variant False RAD50@p.Q685H 1 0.191780822 ENSG00000113522 chr5:132595658-132595658;G/C missense_variant False RAD50@p.S604F 1 0.242038217 ENSG00000113522 chr5:132594886-132594886;C/T missense_variant False RAD51@p.C312Y 1 0.438461538 ENSG00000051180 chr15:40731093-40731093;G/A missense_variant False RAD51@p.D149N 1 0.162162162 ENSG00000051180 chr15:40718814-40718814;G/A missense_variant False RAD51@p.D332N 1 0.15942029 ENSG00000051180 chr15:40731152-40731152;G/A missense_variant False RAD51@p.D37N 1 0.169491525 ENSG00000051180 chr15:40701085-40701085;G/A missense_variant False RAD51@p.E324K 1 0.113636364 ENSG00000051180 chr15:40731128-40731128;G/A missense_variant False RAD51@p.Q101H 1 0.122222222 ENSG00000051180 chr15:40706254-40706254;G/C missense_variant False RAD51@p.Q206E 1 0.151750973 ENSG00000051180 chr15:40728796-40728796;C/G missense_variant False RAD51@p.S233A 1 0.102564103 ENSG00000051180 chr15:40729557-40729557;T/G missense_variant False RAD51AP1@p.E214K 1 0.223684211 ENSG00000111247 chr12:4553015-4553015;G/A missense_variant False RAD51AP2@p.E1014K 1 0.296296296 ENSG00000214842 chr2:17515376-17515376;C/T missense_variant False RAD21@p.L582P 1 0.183206107 ENSG00000164754 chr8:116847651-116847651;A/G missense_variant False RAD21@p.G150V 1 0.126829268 ENSG00000164754 chr8:116858384-116858384;C/A missense_variant False RAC1@p.N26D 1 0.406593407 ENSG00000136238 chr7:6387252-6387252;A/G missense_variant False RACGAP1@p.P581S 1 0.254098361 ENSG00000161800 chr12:49990766-49990766;G/A missense_variant False RAD17@p.D20N 1 0.309090909 ENSG00000152942 chr5:69373845-69373845;G/A missense_variant False RACK1@p.D126H 1 0.144736842 ENSG00000204628 chr5:181241545-181241545;C/G missense_variant False RACK1@p.A250G 1 0.504672897 ENSG00000204628 chr5:181238127-181238127;G/C missense_variant False RACGAP1@p.S563L 1 0.329896907 ENSG00000161800 chr12:49992024-49992024;G/A missense_variant False RACGAP1@p.S364C 1 0.063829787 ENSG00000161800 chr12:49994463-49994463;G/C missense_variant False RACGAP1@p.Q485E 1 0.205128205 ENSG00000161800 chr12:49992370-49992370;G/C missense_variant False RACGAP1@p.L314V 1 0.428571429 ENSG00000161800 chr12:49997144-49997144;G/C missense_variant False RAD21@p.F373L 1 0.357664234 ENSG00000164754 chr8:116854289-116854289;A/G missense_variant False RAC3@p.T58I 1 0.103773585 ENSG00000169750 chr17:82032776-82032776;C/T missense_variant False RAC3@p.K16N 1 0.197530864 ENSG00000169750 chr17:82032399-82032399;G/C missense_variant False RAC3@p.D65N 1 0.383647799 ENSG00000169750 chr17:82032796-82032796;G/A missense_variant False RAC2@p.K186T 1 0.3 ENSG00000128340 chr22:37226695-37226695;T/G missense_variant False RAC1@p.R163Q 1 0.5 ENSG00000136238 chr7:6402355-6402355;G/A missense_variant False RAC1@p.P29S 1 0.166666667 ENSG00000136238 chr7:6387261-6387261;C/T missense_variant False RAD17@p.D376Y 1 0.090909091 ENSG00000152942 chr5:69391917-69391917;G/T missense_variant False RAD17@p.E89K 1 0.15 ENSG00000152942 chr5:69374052-69374052;G/A missense_variant False RAD17@p.G446A 1 0.180327869 ENSG00000152942 chr5:69393382-69393382;G/C missense_variant False RAD17@p.L643I 1 0.287128713 ENSG00000152942 chr5:69414173-69414173;C/A missense_variant False RAD17@p.R269M 1 0.092307692 ENSG00000152942 chr5:69386254-69386254;G/T missense_variant False RAD18@p.E69G 1 0.389830508 ENSG00000070950 chr3:8947280-8947280;T/C missense_variant False RAD18@p.K110N 1 0.395348837 ENSG00000070950 chr3:8941741-8941741;C/A missense_variant False RAD1@p.E72K 1 0.270833333 ENSG00000113456 chr5:34913563-34913563;C/T missense_variant False RAD1@p.R248T 1 0.424460432 ENSG00000113456 chr5:34908871-34908871;C/G missense_variant False RAD1@p.S238C 1 0.111764706 ENSG00000113456 chr5:34908901-34908901;G/C missense_variant False RAD21@p.D243H 1 0.302083333 ENSG00000164754 chr8:116856733-116856733;C/G missense_variant False RAD21@p.D262Y 1 0.464 ENSG00000164754 chr8:116856676-116856676;C/A missense_variant False RAD21@p.D267N 1 0.345132743 ENSG00000164754 chr8:116856661-116856661;C/T missense_variant False RAD21@p.D292H 1 0.196581197 ENSG00000164754 chr8:116856229-116856229;C/G missense_variant False RAD21@p.D333H 1 0.330935252 ENSG00000164754 chr8:116854409-116854409;C/G missense_variant False RAD21@p.E147K 1 0.229885057 ENSG00000164754 chr8:116858394-116858394;C/T missense_variant False RAD21@p.E42Q 1 0.315068493 ENSG00000164754 chr8:116866606-116866606;C/G missense_variant False RAB40AL@p.E146K 1 0.787234043 ENSG00000102128 chrX:102937754-102937754;G/A missense_variant False RAB40AL@p.D36N 1 0.4 ENSG00000102128 chrX:102937424-102937424;G/A missense_variant False RAB40A@p.E113Q 1 0.1875 ENSG00000172476 chrX:103500420-103500420;C/G missense_variant False RAB11FIP1@p.S1214R 1 0.144329897 ENSG00000156675 chr8:37863107-37863107;T/G missense_variant False RAB11FIP2@p.L268V 1 0.26984127 ENSG00000107560 chr10:118039435-118039435;G/C missense_variant False RAB11FIP2@p.L241Q 1 0.534482759 ENSG00000107560 chr10:118040197-118040197;A/T missense_variant False RAB11FIP2@p.E204K 1 0.395604396 ENSG00000107560 chr10:118040309-118040309;C/T missense_variant False RAB11FIP1@p.S571F 1 0.166666667 ENSG00000156675 chr8:37873090-37873090;G/A missense_variant False RAB11FIP1@p.S199L 1 0.087301587 ENSG00000156675 chr8:37877327-37877327;G/A missense_variant False RAB11FIP1@p.S16F 1 0.260869565 ENSG00000156675 chr8:37899395-37899395;G/A missense_variant False RAB11FIP1@p.K1058N 1 0.354037267 ENSG00000156675 chr8:37871628-37871628;C/G missense_variant False RAB11B@p.I151M 1 0.424242424 ENSG00000185236 chr19:8402507-8402507;C/G missense_variant False RAB11FIP1@p.E852Q 1 0.183673469 ENSG00000156675 chr8:37872248-37872248;C/G missense_variant False RAB11FIP1@p.E698Q 1 0.218181818 ENSG00000156675 chr8:37872710-37872710;C/G missense_variant False RAB11FIP1@p.E359Q 1 0.634920635 ENSG00000156675 chr8:37875062-37875062;C/G missense_variant False RAB11FIP1@p.E1017K 1 0.327586207 ENSG00000156675 chr8:37871753-37871753;C/T missense_variant False RAB11FIP1@p.D973H 1 0.135802469 ENSG00000156675 chr8:37871885-37871885;C/G missense_variant False RAB11FIP1@p.A603T 1 0.225806452 ENSG00000156675 chr8:37872995-37872995;C/T missense_variant False RAB11FIP2@p.S185F 1 0.381578947 ENSG00000107560 chr10:118040365-118040365;G/A missense_variant False RAB11FIP2@p.S224L 1 0.253424658 ENSG00000107560 chr10:118040248-118040248;G/A missense_variant False RAB11FIP3@p.S379F 1 0.151515152 ENSG00000090565 chr16:488871-488871;C/T missense_variant False RAB11FIP4@p.F318L 1 0.220858896 ENSG00000131242 chr17:31523536-31523536;C/A missense_variant False RAB11FIP4@p.T238I 1 0.358974359 ENSG00000131242 chr17:31521315-31521315;C/T missense_variant False RAB11FIP5@p.E133K 1 0.387096774 ENSG00000135631 chr2:73112381-73112381;C/T missense_variant False RAB11FIP5@p.K227N 1 0.183908046 ENSG00000135631 chr2:73089066-73089066;C/G missense_variant False RAB11FIP5@p.K411Tfs*22 1 0.254716981 ENSG00000135631 chr2:73088362-73088386;TGGCTGGCCCCAGGGGCCAGGACTT/- frameshift_variant False RAB11FIP5@p.R194G 1 0.322222222 ENSG00000135631 chr2:73089167-73089167;T/C missense_variant False RAB11FIP5@p.S444C 1 0.147619048 ENSG00000135631 chr2:73088287-73088287;G/C missense_variant False RAB12@p.K126N 1 0.248062016 ENSG00000206418 chr18:8633279-8633279;G/C missense_variant False RAB12@p.R87T 1 0.188235294 ENSG00000206418 chr18:8624971-8624971;G/C missense_variant False RAB18@p.K183E 1 0.10880829 ENSG00000099246 chr10:27537977-27537977;A/G missense_variant False RAB18@p.P173R 1 0.315789474 ENSG00000099246 chr10:27537948-27537948;C/G missense_variant False RAB19@p.E143Q 1 0.244680851 ENSG00000146955 chr7:140425923-140425923;G/C missense_variant False RAB1A@p.F12L 1 0.157894737 ENSG00000138069 chr2:65104794-65104794;G/C missense_variant False RAB20@p.A73V 1 0.27826087 ENSG00000139832 chr13:110524152-110524152;G/A missense_variant False RAB11B@p.R72C 1 0.155555556 ENSG00000185236 chr19:8400036-8400036;C/T missense_variant False RAB11A@p.D9N 1 0.2 ENSG00000103769 chr15:65869610-65869610;G/A missense_variant False RAB21@p.F56L 1 0.419354839 ENSG00000080371 chr12:71769808-71769808;C/G missense_variant False QTRT1@p.R256Pfs*11 1 0.103559871 ENSG00000213339 chr19:10712276-10712277;-/C frameshift_variant False R3HCC1L@p.E618D 1 0.213114754 ENSG00000166024 chr10:98231538-98231538;G/C missense_variant False R3HCC1L@p.E199K 1 0.310344828 ENSG00000166024 chr10:98208709-98208709;G/A missense_variant False R3HCC1L@p.D403H 1 0.291666667 ENSG00000166024 chr10:98209321-98209321;G/C missense_variant False QTRT2@p.S352Y 1 0.423357664 ENSG00000151576 chr3:114085711-114085711;C/A missense_variant False QTRT2@p.Q278E 1 0.253623188 ENSG00000151576 chr3:114079991-114079991;C/G missense_variant False QTRT2@p.L367V 1 0.14619883 ENSG00000151576 chr3:114085755-114085755;C/G missense_variant False QTRT1@p.D160N 1 0.164556962 ENSG00000213339 chr19:10707328-10707328;G/A missense_variant False RAB10@p.K4T 1 0.307692308 ENSG00000084733 chr2:26034619-26034619;A/C missense_variant False QSOX2@p.S201F 1 0.358208955 ENSG00000165661 chr9:136223836-136223836;G/A missense_variant False QSOX2@p.G638R 1 0.170731707 ENSG00000165661 chr9:136208913-136208913;C/T missense_variant False QSOX1@p.Q629H 1 0.261904762 ENSG00000116260 chr1:180196680-180196680;G/C missense_variant False QSOX1@p.Q458H 1 0.211538462 ENSG00000116260 chr1:180194298-180194298;G/C missense_variant False QSOX1@p.D579G 1 0.340336134 ENSG00000116260 chr1:180196529-180196529;A/G missense_variant False QSER1@p.S905C 1 0.275862069 ENSG00000060749 chr11:32934359-32934359;C/G missense_variant False R3HCC1L@p.F686L 1 0.261538462 ENSG00000166024 chr10:98234500-98234500;C/G missense_variant False R3HDM1@p.D180H 1 0.421052632 ENSG00000048991 chr2:135631758-135631758;G/C missense_variant False R3HDM1@p.E991K 1 0.127659574 ENSG00000048991 chr2:135723963-135723963;G/A missense_variant False R3HDM1@p.F917L 1 0.453333333 ENSG00000048991 chr2:135715669-135715669;T/G missense_variant False R3HDM1@p.I182V 1 0.214285714 ENSG00000048991 chr2:135631764-135631764;A/G missense_variant False R3HDM1@p.P508T 1 0.108108108 ENSG00000048991 chr2:135645426-135645426;C/A missense_variant False R3HDM1@p.P640S 1 0.5 ENSG00000048991 chr2:135652027-135652027;C/T missense_variant False R3HDM1@p.P688R 1 0.181818182 ENSG00000048991 chr2:135675347-135675347;C/G missense_variant False R3HDM1@p.Q531E 1 0.107692308 ENSG00000048991 chr2:135645495-135645495;C/G missense_variant False R3HDM1@p.S393I 1 0.043478261 ENSG00000048991 chr2:135639081-135639081;G/T missense_variant False R3HDM1@p.V43I 1 0.476190476 ENSG00000048991 chr2:135604972-135604972;G/A missense_variant False R3HDM2@p.Q408H 1 0.094117647 ENSG00000179912 chr12:57280436-57280436;C/A missense_variant False R3HDM2@p.Q589H 1 0.580310881 ENSG00000179912 chr12:57268988-57268988;C/G missense_variant False R3HDM2@p.R372S 1 0.224199288 ENSG00000179912 chr12:57283837-57283837;C/G missense_variant False R3HDM2@p.S893C 1 0.077777778 ENSG00000179912 chr12:57255026-57255026;G/C missense_variant False R3HDML@p.M135I 1 0.469387755 ENSG00000101074 chr20:44343401-44343401;G/A missense_variant False RAB10@p.D90N 1 0.366666667 ENSG00000084733 chr2:26109847-26109847;G/A missense_variant False RAB20@p.F30L 1 0.304347826 ENSG00000139832 chr13:110561430-110561430;G/T missense_variant False RAB21@p.I144Ffs*37 1 0.119266055 ENSG00000080371 chr12:71782067-71782067;C/- frameshift_variant False RAB3IP@p.V360I 1 0.55 ENSG00000127328 chr12:69801621-69801621;G/A missense_variant False RAB3C@p.S11C 1 0.085714286 ENSG00000152932 chr5:58617650-58617650;C/G missense_variant False RAB3GAP1@p.G886E 1 0.294117647 ENSG00000115839 chr2:135164644-135164644;G/A missense_variant False RAB3GAP1@p.E709K 1 0.310810811 ENSG00000115839 chr2:135153712-135153712;G/A missense_variant False RAB3GAP1@p.E318K 1 0.278688525 ENSG00000115839 chr2:135126635-135126635;G/A missense_variant False RAB3GAP1@p.D297N 1 0.245901639 ENSG00000115839 chr2:135126239-135126239;G/A missense_variant False RAB3D@p.F98L 1 0.2 ENSG00000105514 chr19:11335718-11335718;G/C missense_variant False RAB3D@p.D6N 1 0.111627907 ENSG00000105514 chr19:11337384-11337384;C/T missense_variant False RAB3B@p.S37Y 1 0.19047619 ENSG00000169213 chr1:51977008-51977008;G/T missense_variant False RAB39B@p.E51K 1 0.244444444 ENSG00000155961 chrX:155264138-155264138;C/T missense_variant False RAB3B@p.P195L 1 0.372093023 ENSG00000169213 chr1:51920003-51920003;G/A missense_variant False RAB3B@p.D45N 1 0.479591837 ENSG00000169213 chr1:51976985-51976985;C/T missense_variant False RAB3B@p.A14V 1 0.395604396 ENSG00000169213 chr1:51977077-51977077;G/A missense_variant False RAB3A@p.S37C 1 0.040160643 ENSG00000105649 chr19:18202631-18202631;G/C missense_variant False RAB3A@p.R151Q 1 0.447368421 ENSG00000105649 chr19:18198745-18198745;C/T missense_variant False RAB3A@p.D103Y 1 0.149659864 ENSG00000105649 chr19:18200367-18200367;C/A missense_variant False RAB3GAP1@p.I843S 1 0.481707317 ENSG00000115839 chr2:135163023-135163023;T/G missense_variant False RAB3GAP1@p.R958G 1 0.127272727 ENSG00000115839 chr2:135168707-135168707;C/G missense_variant False RAB3GAP1@p.S381L 1 0.23943662 ENSG00000115839 chr2:135130627-135130627;C/T missense_variant False RAB3GAP1@p.S681L 1 0.081632653 ENSG00000115839 chr2:135150487-135150487;C/T missense_variant False RAB3GAP2@p.A551V 1 0.380952381 ENSG00000118873 chr1:220190126-220190126;G/A missense_variant False RAB3GAP2@p.F1191L 1 0.102564103 ENSG00000118873 chr1:220154040-220154040;G/C missense_variant False RAB3GAP2@p.I210M 1 0.2 ENSG00000118873 chr1:220205989-220205989;G/C missense_variant False RAB3GAP2@p.M1111L 1 0.153846154 ENSG00000118873 chr1:220157807-220157807;T/G missense_variant False RAB3GAP2@p.M1169I 1 0.392857143 ENSG00000118873 chr1:220157318-220157318;C/T missense_variant False RAB3GAP2@p.Q463E 1 0.153846154 ENSG00000118873 chr1:220191168-220191168;G/C missense_variant False RAB3GAP2@p.R232Q 1 0.351351351 ENSG00000118873 chr1:220205924-220205924;C/T missense_variant False RAB3GAP2@p.S227F 1 0.583333333 ENSG00000118873 chr1:220205939-220205939;G/A missense_variant False RAB3IL1@p.S264L 1 0.214285714 ENSG00000167994 chr11:61904654-61904654;G/A missense_variant False RAB3IL1@p.S371L 1 0.61627907 ENSG00000167994 chr11:61898315-61898315;G/A missense_variant False RAB3IL1@p.S43C 1 0.25 ENSG00000167994 chr11:61908190-61908190;G/C missense_variant False RAB3IP@p.K409I 1 0.904761905 ENSG00000127328 chr12:69812825-69812825;A/T missense_variant False RAB3IP@p.T111A 1 0.42 ENSG00000127328 chr12:69756436-69756436;A/G missense_variant False RAB39B@p.E69K 1 0.25 ENSG00000155961 chrX:155264084-155264084;C/T missense_variant False RAB39B@p.E161K 1 0.325581395 ENSG00000155961 chrX:155260964-155260964;C/T missense_variant False RAB22A@p.D60N 1 0.173076923 ENSG00000124209 chr20:58343779-58343779;G/A missense_variant False RAB26@p.R237C 1 0.42 ENSG00000167964 chr16:2153359-2153359;C/T missense_variant False RAB29@p.Q60E 1 0.489270386 ENSG00000117280 chr1:205772514-205772514;G/C missense_variant False RAB29@p.E153K 1 0.438596491 ENSG00000117280 chr1:205770776-205770776;C/T missense_variant False RAB28@p.R137Q 1 0.431372549 ENSG00000157869 chr4:13381576-13381576;C/T missense_variant False RAB28@p.Q34E 1 0.291666667 ENSG00000157869 chr4:13479502-13479502;G/C missense_variant False RAB28@p.E102Q 1 0.208333333 ENSG00000157869 chr4:13460786-13460786;C/G missense_variant False RAB27A@p.R64K 1 0.287671233 ENSG00000069974 chr15:55230449-55230449;C/T missense_variant False RAB26@p.R127C 1 0.064516129 ENSG00000167964 chr16:2151725-2151725;C/T missense_variant False RAB39A@p.I12M 1 0.296296296 ENSG00000179331 chr11:107928604-107928604;C/G missense_variant False RAB25@p.S21L 1 0.315789474 ENSG00000132698 chr1:156065929-156065929;C/T missense_variant False RAB25@p.S159C 1 0.399049881 ENSG00000132698 chr1:156069713-156069713;C/G missense_variant False RAB25@p.R105Q 1 0.179487179 ENSG00000132698 chr1:156068344-156068344;G/A missense_variant False RAB24@p.L33V 1 0.142201835 ENSG00000169228 chr5:177303192-177303192;G/C missense_variant False RAB23@p.F34C 1 0.236263736 ENSG00000112210 chr6:57210280-57210280;A/C missense_variant False RAB22A@p.R68C 1 0.4875 ENSG00000124209 chr20:58353276-58353276;C/T missense_variant False RAB2B@p.R204Q 1 0.523809524 ENSG00000129472 chr14:21461236-21461236;C/T missense_variant False RAB30@p.R136Q 1 0.369565217 ENSG00000137502 chr11:82982370-82982370;C/T missense_variant False RAB31@p.P169L 1 0.37804878 ENSG00000168461 chr18:9859243-9859243;C/T missense_variant False RAB32@p.D125V 1 0.406593407 ENSG00000118508 chr6:146549587-146549587;A/T missense_variant False RAB32@p.G101D 1 0.411214953 ENSG00000118508 chr6:146549515-146549515;G/A missense_variant False RAB33A@p.E224Q 1 0.295454545 ENSG00000134594 chrX:130184696-130184696;G/C missense_variant False RAB36@p.E163G 1 0.390374332 ENSG00000100228 chr22:23153095-23153095;A/G missense_variant False RAB36@p.K145N 1 0.137931034 ENSG00000100228 chr22:23153042-23153042;G/C missense_variant False RAB37@p.A195V 1 0.377777778 ENSG00000172794 chr17:74745323-74745323;C/T missense_variant False RAB37@p.R101K 1 0.371727749 ENSG00000172794 chr17:74743184-74743184;G/A missense_variant False RAB38@p.E70D 1 0.538216561 ENSG00000123892 chr11:88149948-88149948;T/G missense_variant False RAB38@p.F46L 1 0.791666667 ENSG00000123892 chr11:88175247-88175247;G/C missense_variant False RAB38@p.I26M 1 0.133333333 ENSG00000123892 chr11:88175307-88175307;G/C missense_variant False RAB38@p.I26T 1 0.275071633 ENSG00000123892 chr11:88175308-88175308;A/G missense_variant False RAB38@p.T76M 1 0.381147541 ENSG00000123892 chr11:88149931-88149931;G/A missense_variant False RAB39A@p.D106H 1 0.066666667 ENSG00000179331 chr11:107962034-107962034;G/C missense_variant False RAB39A@p.E2D 1 0.444444444 ENSG00000179331 chr11:107928574-107928574;G/C missense_variant False RAD51AP2@p.E59K 1 0.25 ENSG00000214842 chr2:17518241-17518241;C/T missense_variant False RAD51AP2@p.E656K 1 0.289473684 ENSG00000214842 chr2:17516450-17516450;C/T missense_variant False RAD51AP2@p.E784Q 1 0.375 ENSG00000214842 chr2:17516066-17516066;C/G missense_variant False RANBP2@p.E1590K 1 0.251428571 ENSG00000153201 chr2:108765307-108765307;G/A missense_variant False RANBP2@p.I2607M 1 0.225705329 ENSG00000153201 chr2:108768360-108768360;C/G missense_variant False RANBP2@p.G872A 1 0.182692308 ENSG00000153201 chr2:108762113-108762113;G/C missense_variant False RANBP2@p.E2922K 1 0.118181818 ENSG00000153201 chr2:108782131-108782131;G/A missense_variant False RANBP2@p.E277Q 1 0.235741445 ENSG00000153201 chr2:108740535-108740535;G/C missense_variant False RANBP2@p.E2030K 1 0.175416133 ENSG00000153201 chr2:108766627-108766627;G/A missense_variant False RANBP2@p.E1725K 1 0.303030303 ENSG00000153201 chr2:108765712-108765712;G/A missense_variant False RANBP2@p.E1064K 1 0.304878049 ENSG00000153201 chr2:108763729-108763729;G/A missense_variant False RANBP1@p.H80Q 1 0.333333333 ENSG00000099901 chr22:20122351-20122351;C/G missense_variant False RANBP2@p.D95N 1 0.098360656 ENSG00000153201 chr2:108731352-108731352;G/A missense_variant False RANBP2@p.D405H 1 0.189054726 ENSG00000153201 chr2:108749069-108749069;G/C missense_variant False RANBP2@p.D2742H 1 0.06122449 ENSG00000153201 chr2:108772978-108772978;G/C missense_variant False RANBP2@p.D163H 1 0.186086957 ENSG00000153201 chr2:108735613-108735613;G/C missense_variant False RANBP2@p.D1471Y 1 0.411111111 ENSG00000153201 chr2:108764950-108764950;G/T missense_variant False RANBP2@p.D1168Y 1 0.102564103 ENSG00000153201 chr2:108764041-108764041;G/T missense_variant False RANBP2@p.L1916V 1 0.129770992 ENSG00000153201 chr2:108766285-108766285;C/G missense_variant False RANBP2@p.N3162S 1 0.108910891 ENSG00000153201 chr2:108783711-108783711;A/G missense_variant False RANBP2@p.P623S 1 0.251798561 ENSG00000153201 chr2:108753109-108753109;C/T missense_variant False RANBP2@p.Q56R 1 0.110215054 ENSG00000153201 chr2:108730800-108730800;A/G missense_variant False RANBP2@p.R2169K 1 0.060941828 ENSG00000153201 chr2:108767045-108767045;G/A missense_variant False RANBP2@p.S1832F 1 0.107843137 ENSG00000153201 chr2:108766034-108766034;C/T missense_variant False RANBP2@p.S2431L 1 0.234432234 ENSG00000153201 chr2:108767831-108767831;C/T missense_variant False RANBP3@p.D225E 1 0.411764706 ENSG00000031823 chr19:5931422-5931422;A/T missense_variant False RANBP3@p.L266F 1 0.556338028 ENSG00000031823 chr19:5927983-5927983;C/G missense_variant False RANBP3L@p.D107N 1 0.231292517 ENSG00000164188 chr5:36265470-36265470;C/T missense_variant False RANBP3L@p.E379Q 1 0.428571429 ENSG00000164188 chr5:36253679-36253679;C/G missense_variant False RANBP6@p.D1063N 1 0.112903226 ENSG00000137040 chr9:6012421-6012421;C/T missense_variant False RANBP6@p.D790N 1 0.227272727 ENSG00000137040 chr9:6013240-6013240;C/T missense_variant False RANBP6@p.P90R 1 0.299319728 ENSG00000137040 chr9:6015339-6015339;G/C missense_variant False RANBP6@p.Q628E 1 0.100558659 ENSG00000137040 chr9:6013726-6013726;G/C missense_variant False RANBP9@p.A351V 1 0.450549451 ENSG00000010017 chr6:13644605-13644605;G/A missense_variant False RANBP9@p.H490R 1 0.409638554 ENSG00000010017 chr6:13639619-13639619;T/C missense_variant False RANBP2@p.A1817V 1 0.153846154 ENSG00000153201 chr2:108765989-108765989;C/T missense_variant False RANBP17@p.S813Y 1 0.266129032 ENSG00000204764 chr5:171240943-171240943;C/A missense_variant False RANGAP1@p.E11K 1 0.266666667 ENSG00000100401 chr22:41281014-41281014;C/T missense_variant False RALGPS2@p.L370V 1 0.087719298 ENSG00000116191 chr1:178886036-178886036;C/G missense_variant False RALY@p.E265K 1 0.142857143 ENSG00000125970 chr20:34077162-34077162;G/A missense_variant False RALY@p.E186K 1 0.175438596 ENSG00000125970 chr20:34076713-34076713;G/A missense_variant False RALY@p.D297H 1 0.170940171 ENSG00000125970 chr20:34078517-34078517;G/C missense_variant False RALGPS2@p.Y496H 1 0.350515464 ENSG00000116191 chr1:178897718-178897718;T/C missense_variant False RALGPS2@p.Q461E 1 0.378378378 ENSG00000116191 chr1:178893974-178893974;C/G missense_variant False RALGPS2@p.N516Y 1 0.360655738 ENSG00000116191 chr1:178902127-178902127;A/T missense_variant False RALGPS2@p.E268Q 1 0.25 ENSG00000116191 chr1:178878958-178878958;G/C missense_variant False RANBP17@p.P976L 1 0.105263158 ENSG00000204764 chr5:171265831-171265831;C/T missense_variant False RALGPS2@p.D534H 1 0.132743363 ENSG00000116191 chr1:178902181-178902181;G/C missense_variant False RALGPS2@p.D529N 1 0.378378378 ENSG00000116191 chr1:178902166-178902166;G/A missense_variant False RALGPS1@p.S22R 1 0.203389831 ENSG00000136828 chr9:126965852-126965852;C/A missense_variant False RALGPS1@p.G327D 1 0.247787611 ENSG00000136828 chr9:127195160-127195160;G/A missense_variant False RALGDS@p.W668Afs*11 1 0.182481752 ENSG00000160271 chr9:133102484-133102485;-/CGCT frameshift_variant False RALGDS@p.Q551H 1 0.285714286 ENSG00000160271 chr9:133104281-133104281;C/G missense_variant False RALY@p.K34N 1 0.150684932 ENSG00000125970 chr20:34072176-34072176;G/C missense_variant False RALY@p.S106C 1 0.164705882 ENSG00000125970 chr20:34073623-34073623;C/G missense_variant False RALY@p.S63C 1 0.139534884 ENSG00000125970 chr20:34072262-34072262;C/G missense_variant False RALYL@p.C246G 1 0.196721311 ENSG00000184672 chr8:84887654-84887654;T/G missense_variant False RALYL@p.E227Q 1 0.555555556 ENSG00000184672 chr8:84873391-84873391;G/C missense_variant False RALYL@p.G282R 1 0.08490566 ENSG00000184672 chr8:84887762-84887762;G/C missense_variant False RALYL@p.K13N 1 0.5 ENSG00000184672 chr8:84529360-84529360;G/C missense_variant False RAMP1@p.D90Y 1 0.411214953 ENSG00000132329 chr2:237911604-237911604;G/T missense_variant False RAMP1@p.P121S 1 0.294117647 ENSG00000132329 chr2:237911697-237911697;C/T missense_variant False RAMP3@p.E117K 1 0.06918239 ENSG00000122679 chr7:45183314-45183314;G/A missense_variant False RAMP3@p.I63N 1 0.507692308 ENSG00000122679 chr7:45177438-45177438;T/A missense_variant False RAN@p.D18Y 1 0.136054422 ENSG00000132341 chr12:130872851-130872851;G/T missense_variant False RANBP10@p.E460Q 1 0.454545455 ENSG00000141084 chr16:67728486-67728486;C/G missense_variant False RANBP10@p.S353T 1 0.097014925 ENSG00000141084 chr16:67729770-67729770;A/T missense_variant False RANBP17@p.A548V 1 0.215686275 ENSG00000204764 chr5:170968310-170968310;C/T missense_variant False RANBP17@p.E1018K 1 0.653846154 ENSG00000204764 chr5:171295896-171295896;G/A missense_variant False RANBP17@p.E454Q 1 0.5 ENSG00000204764 chr5:170924442-170924442;G/C missense_variant False RANBP9@p.Q471E 1 0.222222222 ENSG00000010017 chr6:13639677-13639677;G/C missense_variant False RANGAP1@p.M317I 1 0.446428571 ENSG00000100401 chr22:41256228-41256228;C/T missense_variant False RALGAPB@p.W1219L 1 0.488636364 ENSG00000170471 chr20:38562656-38562656;G/T missense_variant False RAPGEF3@p.Q371E 1 0.062827225 ENSG00000079337 chr12:47748862-47748862;G/C missense_variant False RAPGEF4@p.W826C 1 0.902777778 ENSG00000091428 chr2:173027179-173027179;G/T missense_variant False RAPGEF4@p.V828I 1 0.333333333 ENSG00000091428 chr2:173027183-173027183;G/A missense_variant False RAPGEF4@p.R1010G 1 0.1125 ENSG00000091428 chr2:173051759-173051759;C/G missense_variant False RAPGEF4@p.K202R 1 0.076923077 ENSG00000091428 chr2:172961135-172961135;A/G missense_variant False RAPGEF4@p.H935Y 1 0.071428571 ENSG00000091428 chr2:173036642-173036642;C/T missense_variant False RAPGEF4@p.E594K 1 0.114285714 ENSG00000091428 chr2:173014585-173014585;G/A missense_variant False RAPGEF3@p.L108M 1 0.1 ENSG00000079337 chr12:47751781-47751781;G/T missense_variant False RAPGEF2@p.R905C 1 0.166666667 ENSG00000109756 chr4:159343346-159343346;C/T missense_variant False RAPGEF3@p.I825V 1 0.314606742 ENSG00000079337 chr12:47738743-47738743;T/C missense_variant False RAPGEF3@p.E640K 1 0.392857143 ENSG00000079337 chr12:47741510-47741510;C/T missense_variant False RAPGEF3@p.E628* 1 0.254237288 ENSG00000079337 chr12:47741546-47741547;-/A frameshift_variant False RAPGEF3@p.E256Q 1 0.112582781 ENSG00000079337 chr12:47749981-47749981;C/G missense_variant False RAPGEF3@p.A447V 1 0.194444444 ENSG00000079337 chr12:47747845-47747845;G/A missense_variant False RAPGEF2@p.S405C 1 0.277227723 ENSG00000109756 chr4:159331751-159331751;C/G missense_variant False RAPGEF5@p.V531L 1 0.380597015 ENSG00000136237 chr7:22125640-22125640;C/G missense_variant False RAPGEF6@p.D820H 1 0.189189189 ENSG00000158987 chr5:131464063-131464063;C/G missense_variant False RAPGEF6@p.E401K 1 0.485148515 ENSG00000158987 chr5:131504679-131504679;C/T missense_variant False RAPGEF6@p.E775K 1 0.444444444 ENSG00000158987 chr5:131464198-131464198;C/T missense_variant False RAPGEF6@p.E797K 1 0.337662338 ENSG00000158987 chr5:131464132-131464132;C/T missense_variant False RAPGEF6@p.K460R 1 0.742574257 ENSG00000158987 chr5:131498483-131498483;T/C missense_variant False RAPGEF6@p.S1229F 1 0.166666667 ENSG00000158987 chr5:131439640-131439640;G/A missense_variant False RAPGEF6@p.W913C 1 0.115384615 ENSG00000158987 chr5:131461830-131461830;C/A missense_variant False RAPGEF6@p.W913L 1 0.113207547 ENSG00000158987 chr5:131461831-131461831;C/A missense_variant False RAPGEFL1@p.I500M 1 0.166666667 ENSG00000108352 chr17:40191480-40191480;C/G missense_variant False RAPGEFL1@p.S335L 1 0.127118644 ENSG00000108352 chr17:40189265-40189265;C/T missense_variant False RAPH1@p.A1167T 1 0.077777778 ENSG00000173166 chr2:203439691-203439691;C/T missense_variant False RAPH1@p.H130Y 1 0.262773723 ENSG00000173166 chr2:203489928-203489928;G/A missense_variant False RAPH1@p.P1204S 1 0.434782609 ENSG00000173166 chr2:203439580-203439580;G/A missense_variant False RAPH1@p.Q1214H 1 0.139534884 ENSG00000173166 chr2:203439548-203439548;C/G missense_variant False RAPH1@p.R189K 1 0.446153846 ENSG00000173166 chr2:203489750-203489750;C/T missense_variant False RAPH1@p.R325T 1 0.339622642 ENSG00000173166 chr2:203460025-203460025;C/G missense_variant False RAPGEF2@p.S1115C 1 0.25 ENSG00000109756 chr4:159350251-159350251;C/G missense_variant False RAPGEF2@p.R734C 1 0.909090909 ENSG00000109756 chr4:159341712-159341712;C/T missense_variant False RANGAP1@p.S471Y 1 0.177777778 ENSG00000100401 chr22:41251078-41251078;G/T missense_variant False RAP1GDS1@p.E237Q 1 0.25 ENSG00000138698 chr4:98404548-98404548;G/C missense_variant False RAP2A@p.F39L 1 0.365853659 ENSG00000125249 chr13:97434587-97434587;C/A missense_variant False RAP2A@p.E159K 1 0.245762712 ENSG00000125249 chr13:97464365-97464365;G/A missense_variant False RAP1GDS1@p.V359G 1 0.307692308 ENSG00000138698 chr4:98418693-98418693;T/G missense_variant False RAP1GDS1@p.Q319E 1 0.305555556 ENSG00000138698 chr4:98417414-98417414;C/G missense_variant False RAP1GDS1@p.Q134H 1 0.242105263 ENSG00000138698 chr4:98379057-98379057;G/T missense_variant False RAP1GDS1@p.L578V 1 0.314814815 ENSG00000138698 chr4:98442025-98442025;C/G missense_variant False RAP1GDS1@p.D17N 1 0.125 ENSG00000138698 chr4:98293452-98293452;G/A missense_variant False RAPGEF2@p.R530S 1 0.25 ENSG00000109756 chr4:159332635-159332635;G/C missense_variant False RAP1GAP@p.G248W 1 0.275862069 ENSG00000076864 chr1:21611553-21611553;C/A missense_variant False RAP1GAP2@p.F59L 1 0.3125 ENSG00000132359 chr17:2957770-2957770;C/G missense_variant False RAP1B@p.E3G 1 0.952229299 ENSG00000127314 chr12:68648732-68648732;A/G missense_variant False RAP1B@p.E37Q 1 0.116666667 ENSG00000127314 chr12:68650451-68650451;G/C missense_variant False RAP1A@p.S150L 1 0.403508772 ENSG00000116473 chr1:111704467-111704467;C/T missense_variant False RAP1A@p.Q87K 1 0.204724409 ENSG00000116473 chr1:111703411-111703411;C/A missense_variant False RAP2B@p.E125K 1 0.378378378 ENSG00000181467 chr3:153163066-153163066;G/A missense_variant False RAP2C@p.C140F 1 0.195402299 ENSG00000123728 chrX:132214301-132214301;C/A missense_variant False RAP2C@p.E62Q 1 0.302521008 ENSG00000123728 chrX:132217085-132217085;C/G missense_variant False RAP2C@p.K5N 1 0.909090909 ENSG00000123728 chrX:132217254-132217254;C/G missense_variant False RAPGEF1@p.E59K 1 0.222222222 ENSG00000107263 chr9:131650218-131650218;C/T missense_variant False RAPGEF1@p.E777Q 1 0.1875 ENSG00000107263 chr9:131588967-131588967;C/G missense_variant False RAPGEF1@p.E843Q 1 0.166666667 ENSG00000107263 chr9:131587995-131587995;C/G missense_variant False RAPGEF1@p.R291K 1 0.294117647 ENSG00000107263 chr9:131628643-131628643;C/T missense_variant False RAPGEF2@p.D72N 1 0.210526316 ENSG00000109756 chr4:159314612-159314612;G/A missense_variant False RAPGEF2@p.E1020K 1 0.177966102 ENSG00000109756 chr4:159346827-159346827;G/A missense_variant False RAPGEF2@p.E250Q 1 0.196078431 ENSG00000109756 chr4:159329939-159329939;G/C missense_variant False RAPGEF2@p.G196E 1 0.288888889 ENSG00000109756 chr4:159323538-159323538;G/A missense_variant False RAPGEF2@p.I679M 1 0.303571429 ENSG00000109756 chr4:159339340-159339340;A/G missense_variant False RAPGEF2@p.L177R 1 0.324324324 ENSG00000109756 chr4:159323481-159323481;T/G missense_variant False RAPGEF2@p.M1194I 1 0.210526316 ENSG00000109756 chr4:159352884-159352884;G/A missense_variant False RAPGEF2@p.Q715E 1 0.275862069 ENSG00000109756 chr4:159341655-159341655;C/G missense_variant False RAPGEF2@p.R1151Q 1 0.346153846 ENSG00000109756 chr4:159352754-159352754;G/A missense_variant False RALGDS@p.D854N 1 0.237668161 ENSG00000160271 chr9:133100277-133100277;C/T missense_variant False RALGAPB@p.T674M 1 0.113772455 ENSG00000170471 chr20:38526013-38526013;C/T missense_variant False RAD51AP2@p.G169E 1 0.315068493 ENSG00000214842 chr2:17517910-17517910;C/T missense_variant False RAD9B@p.Q219E 1 0.401785714 ENSG00000151164 chr12:110518735-110518735;C/G missense_variant False RADIL@p.S984C 1 0.333333333 ENSG00000157927 chr7:4800202-4800202;G/C missense_variant False RADIL@p.S289L 1 0.466666667 ENSG00000157927 chr7:4835157-4835157;G/A missense_variant False RADIL@p.R595H 1 0.5 ENSG00000157927 chr7:4816410-4816410;C/T missense_variant False RADIL@p.A437T 1 0.46875 ENSG00000157927 chr7:4834714-4834714;C/T missense_variant False RAD9B@p.V210A 1 0.294117647 ENSG00000151164 chr12:110518709-110518709;T/C missense_variant False RAD9B@p.S386F 1 0.225352113 ENSG00000151164 chr12:110530556-110530556;C/T missense_variant False RAD9A@p.Y48C 1 0.204819277 ENSG00000172613 chr11:67392691-67392691;A/G missense_variant False RAD54L@p.E184Q 1 0.245283019 ENSG00000085999 chr1:46260799-46260799;G/C missense_variant False RAD9A@p.P243R 1 0.12195122 ENSG00000172613 chr11:67396169-67396169;C/G missense_variant False RAD54L@p.S79L 1 0.242105263 ENSG00000085999 chr1:46258711-46258711;C/T missense_variant False RAD54L@p.R13K 1 0.395833333 ENSG00000085999 chr1:46248546-46248546;G/A missense_variant False RAD54L@p.Q90E 1 0.065217391 ENSG00000085999 chr1:46258743-46258743;C/G missense_variant False RAD54L@p.L55F 1 0.246268657 ENSG00000085999 chr1:46250074-46250074;G/C missense_variant False RAD54L@p.I272V 1 0.346153846 ENSG00000085999 chr1:46261308-46261308;A/G missense_variant False RADX@p.D783N 1 0.103092784 ENSG00000147231 chrX:106669240-106669240;G/A missense_variant False RADX@p.D85Y 1 0.946428571 ENSG00000147231 chrX:106612333-106612333;G/T missense_variant False RADX@p.D96Y 1 0.222222222 ENSG00000147231 chrX:106612366-106612366;G/T missense_variant False RADX@p.S64L 1 0.189473684 ENSG00000147231 chrX:106612271-106612271;C/T missense_variant False RADX@p.S780F 1 0.555555556 ENSG00000147231 chrX:106669232-106669232;C/T missense_variant False RAE1@p.D253H 1 0.291187739 ENSG00000101146 chr20:57373670-57373670;G/C missense_variant False RAE1@p.D40N 1 0.097014925 ENSG00000101146 chr20:57354739-57354739;G/A missense_variant False RAET1E@p.E96K 1 0.465116279 ENSG00000164520 chr6:149889945-149889945;C/T missense_variant False RAET1E@p.G98R 1 0.253731343 ENSG00000164520 chr6:149889939-149889939;C/G missense_variant False RAET1G@p.Q221H 1 0.944444444 ENSG00000203722 chr6:149918353-149918353;T/G missense_variant False RAET1G@p.W87L 1 0.38121547 ENSG00000203722 chr6:149919642-149919642;C/A missense_variant False RAET1L@p.S181C 1 0.144144144 ENSG00000155918 chr6:150020994-150020994;G/C missense_variant False RAF1@p.E125Q 1 0.325 ENSG00000132155 chr3:12609283-12609283;C/G missense_variant False RAF1@p.L86R 1 0.201520913 ENSG00000132155 chr3:12612013-12612013;A/C missense_variant False RAF1@p.M83T 1 0.098214286 ENSG00000132155 chr3:12612022-12612022;A/G missense_variant False RAG1@p.E827D 1 0.2 ENSG00000166349 chr11:36575785-36575785;G/T missense_variant False RAG1@p.K527N 1 0.451219512 ENSG00000166349 chr11:36574885-36574885;G/T missense_variant False RAD54L@p.E210Q 1 0.069444444 ENSG00000085999 chr1:46260877-46260877;G/C missense_variant False RAD54L@p.D514N 1 0.393939394 ENSG00000085999 chr1:46273677-46273677;G/A missense_variant False RAG1@p.V779* 1 0.412698413 ENSG00000166349 chr11:36575637-36575637;G/- frameshift_variant False RAD51B@p.E168Q 1 0.228346457 ENSG00000182185 chr14:67885918-67885918;G/C missense_variant False RAD51C@p.R249C 1 0.292517007 ENSG00000108384 chr17:58709898-58709898;C/T missense_variant False RAD51C@p.P330H 1 0.243697479 ENSG00000108384 chr17:58732507-58732507;C/A missense_variant False RAD51C@p.P21T 1 0.289655172 ENSG00000108384 chr17:58692704-58692704;C/A missense_variant False RAD51B@p.Q225E 1 0.202797203 ENSG00000182185 chr14:67887121-67887121;C/G missense_variant False RAD51B@p.L189Q 1 0.294964029 ENSG00000182185 chr14:67885982-67885982;T/A missense_variant False RAD51B@p.E248A 1 0.322580645 ENSG00000182185 chr14:67887191-67887191;A/C missense_variant False RAD51AP2@p.Y617H 1 0.470588235 ENSG00000214842 chr2:17516567-17516567;A/G missense_variant False RAD54L@p.D296N 1 0.348837209 ENSG00000085999 chr1:46261380-46261380;G/A missense_variant False RAD51AP2@p.P1114T 1 0.081081081 ENSG00000214842 chr2:17510944-17510944;G/T missense_variant False RAD51AP2@p.L587Ffs*4 1 0.2 ENSG00000214842 chr2:17516655-17516656;-/A frameshift_variant False RAD51AP2@p.K920N 1 0.195652174 ENSG00000214842 chr2:17515656-17515656;C/G missense_variant False RAD51AP2@p.K524E 1 0.5 ENSG00000214842 chr2:17516846-17516846;T/C missense_variant False RAD51AP2@p.I452M 1 0.394366197 ENSG00000214842 chr2:17517060-17517060;G/C missense_variant False RAD51AP2@p.I1035T 1 0.463414634 ENSG00000214842 chr2:17515312-17515312;A/G missense_variant False RAD51D@p.E104G 1 0.419753086 ENSG00000185379 chr17:35107400-35107400;T/C missense_variant False RAD51D@p.L277V 1 0.144578313 ENSG00000185379 chr17:35101275-35101275;G/C missense_variant False RAD51D@p.Q319H 1 0.365853659 ENSG00000185379 chr17:35100983-35100983;C/G missense_variant False RAD51D@p.Q327P 1 0.222222222 ENSG00000185379 chr17:35100960-35100960;T/G missense_variant False RAD51D@p.S196F 1 0.6 ENSG00000185379 chr17:35103534-35103534;G/A missense_variant False RAD52@p.H216Y 1 0.237288136 ENSG00000002016 chr12:916718-916718;G/A missense_variant False RAD54B@p.C227Y 1 0.337349398 ENSG00000197275 chr8:94407540-94407540;C/T missense_variant False RAD54B@p.D691N 1 0.366197183 ENSG00000197275 chr8:94380321-94380321;C/T missense_variant False RAD54B@p.K721I 1 0.260869565 ENSG00000197275 chr8:94380230-94380230;T/A missense_variant False RAD54B@p.Q671Ffs*44 1 0.205882353 ENSG00000197275 chr8:94380369-94380381;TGTTCAAGGTTTG/- frameshift_variant False RAD54L2@p.D626Y 1 0.361702128 ENSG00000164080 chr3:51639434-51639434;G/T missense_variant False RAD54L2@p.E123Q 1 0.588235294 ENSG00000164080 chr3:51629359-51629359;G/C missense_variant False RAD54L2@p.E219K 1 0.11627907 ENSG00000164080 chr3:51630761-51630761;G/A missense_variant False RAD54L2@p.G602S 1 0.433333333 ENSG00000164080 chr3:51638265-51638265;G/A missense_variant False RAD54L2@p.R547G 1 0.137931034 ENSG00000164080 chr3:51637460-51637460;C/G missense_variant False RAD54L2@p.T1122A 1 0.705882353 ENSG00000164080 chr3:51660073-51660073;A/G missense_variant False RAD54L2@p.V399L 1 0.152542373 ENSG00000164080 chr3:51635645-51635645;G/T missense_variant False RAG1@p.V200M 1 0.254901961 ENSG00000166349 chr11:36573902-36573902;G/A missense_variant False RAG1@p.Y768C 1 0.644444444 ENSG00000166349 chr11:36575607-36575607;A/G missense_variant False RALGAPB@p.S647F 1 0.142857143 ENSG00000170471 chr20:38525932-38525932;C/T missense_variant False RALGAPA1@p.S1379L 1 0.275510204 ENSG00000174373 chr14:35651827-35651827;G/A missense_variant False RALGAPA2@p.E1744K 1 0.122302158 ENSG00000188559 chr20:20495254-20495254;C/T missense_variant False RALGAPA2@p.E1573K 1 0.098360656 ENSG00000188559 chr20:20512652-20512652;C/T missense_variant False RALGAPA2@p.E128K 1 0.434782609 ENSG00000188559 chr20:20640869-20640869;C/T missense_variant False RALGAPA2@p.E1245Q 1 0.222222222 ENSG00000188559 chr20:20524859-20524859;C/G missense_variant False RALGAPA2@p.D897V 1 0.363636364 ENSG00000188559 chr20:20583067-20583067;T/A missense_variant False RALGAPA2@p.D645N 1 0.3 ENSG00000188559 chr20:20605280-20605280;C/T missense_variant False RALGAPA1@p.S1027C 1 0.3 ENSG00000174373 chr14:35677976-35677976;G/C missense_variant False RALB@p.G23R 1 0.421052632 ENSG00000144118 chr2:120278731-120278731;G/C missense_variant False RALGAPA1@p.R566L 1 0.290322581 ENSG00000174373 chr14:35728401-35728401;C/A missense_variant False RALGAPA1@p.P1005A 1 0.340425532 ENSG00000174373 chr14:35678043-35678043;G/C missense_variant False RALGAPA1@p.M568L 1 0.133333333 ENSG00000174373 chr14:35728396-35728396;T/G missense_variant False RALGAPA1@p.I54Mfs*8 1 0.435897436 ENSG00000174373 chr14:35775684-35775690;ATAGTAT/- frameshift_variant False RALGAPA1@p.E1678Q 1 0.09352518 ENSG00000174373 chr14:35627397-35627397;C/G missense_variant False RALGAPA1@p.E1482K 1 0.217948718 ENSG00000174373 chr14:35634607-35634607;C/T missense_variant False RALGAPA2@p.E389K 1 0.173913043 ENSG00000188559 chr20:20629431-20629431;C/T missense_variant False RALGAPA2@p.G1799A 1 0.157894737 ENSG00000188559 chr20:20472928-20472928;C/G missense_variant False RALGAPA2@p.L1520I 1 0.477272727 ENSG00000188559 chr20:20512811-20512811;G/T missense_variant False RALGAPA2@p.L697F 1 0.552631579 ENSG00000188559 chr20:20601796-20601796;G/A missense_variant False RALGAPA2@p.P1072S 1 0.090909091 ENSG00000188559 chr20:20546775-20546775;G/A missense_variant False RALGAPA2@p.Q357H 1 0.474452555 ENSG00000188559 chr20:20629525-20629525;C/A missense_variant False RALGAPA2@p.R431K 1 0.5 ENSG00000188559 chr20:20620572-20620572;C/T missense_variant False RALGAPA2@p.S1213C 1 0.25 ENSG00000188559 chr20:20526307-20526307;G/C missense_variant False RALGAPA2@p.T292I 1 0.508474576 ENSG00000188559 chr20:20635548-20635548;G/A missense_variant False RALGAPB@p.D595N 1 0.185950413 ENSG00000170471 chr20:38524941-38524941;G/A missense_variant False RALGAPB@p.E1057Q 1 0.25 ENSG00000170471 chr20:38553873-38553873;G/C missense_variant False RALGAPB@p.I667V 1 0.256830601 ENSG00000170471 chr20:38525991-38525991;A/G missense_variant False RALGAPB@p.K528N 1 0.051724138 ENSG00000170471 chr20:38521663-38521663;G/C missense_variant False RALGAPB@p.L1196V 1 0.403846154 ENSG00000170471 chr20:38562586-38562586;T/G missense_variant False RALGAPB@p.P919S 1 0.376146789 ENSG00000170471 chr20:38546283-38546283;C/T missense_variant False RALGAPB@p.R769K 1 0.460829493 ENSG00000170471 chr20:38535134-38535134;G/A missense_variant False RALGAPB@p.S599L 1 0.172222222 ENSG00000170471 chr20:38525412-38525412;C/T missense_variant False RALGAPA1@p.D1891H 1 0.109756098 ENSG00000174373 chr14:35595654-35595654;C/G missense_variant False RAI2@p.P177L 1 0.348837209 ENSG00000131831 chrX:17801481-17801481;G/A missense_variant False RAG2@p.E412K 1 0.533333333 ENSG00000175097 chr11:36592935-36592935;C/T missense_variant False RAI14@p.I339V 1 0.177777778 ENSG00000039560 chr5:34821752-34821752;A/G missense_variant False RAI14@p.S905C 1 0.076433121 ENSG00000039560 chr5:34826394-34826394;C/G missense_variant False RAI14@p.S341F 1 0.078947368 ENSG00000039560 chr5:34821759-34821759;C/T missense_variant False RAI14@p.R825K 1 0.470588235 ENSG00000039560 chr5:34824316-34824316;G/A missense_variant False RAI14@p.Q243E 1 0.269230769 ENSG00000039560 chr5:34811936-34811936;C/G missense_variant False RAI14@p.L754H 1 0.307692308 ENSG00000039560 chr5:34824103-34824103;T/A missense_variant False RAI14@p.K666Q 1 0.085106383 ENSG00000039560 chr5:34823838-34823838;A/C missense_variant False RAI14@p.F312L 1 0.423076923 ENSG00000039560 chr5:34814666-34814666;C/A missense_variant False RAI2@p.E315K 1 0.478494624 ENSG00000131831 chrX:17801068-17801068;C/T missense_variant False RAI14@p.E851K 1 0.323353293 ENSG00000039560 chr5:34824393-34824393;G/A missense_variant False RAI14@p.E815Q 1 0.083333333 ENSG00000039560 chr5:34824285-34824285;G/C missense_variant False RAI14@p.D334N 1 0.205479452 ENSG00000039560 chr5:34821737-34821737;G/A missense_variant False RAI14@p.A623T 1 0.075675676 ENSG00000039560 chr5:34823709-34823709;G/A missense_variant False RAG2@p.L348F 1 0.262711864 ENSG00000175097 chr11:36593125-36593125;C/G missense_variant False RAG2@p.E87Q 1 0.047727273 ENSG00000175097 chr11:36593910-36593910;C/G missense_variant False RAI1@p.D1758N 1 0.928571429 ENSG00000258436 chr17:17798220-17798220;G/A missense_variant False RAI1@p.E115K 1 0.529411765 ENSG00000258436 chr17:17793291-17793291;G/A missense_variant False RAI1@p.E1196Gfs*21 1 0.355555556 ENSG00000258436 chr17:17796532-17796533;-/G frameshift_variant False RAI1@p.H476Q 1 0.279069767 ENSG00000258436 chr17:17794376-17794376;T/G missense_variant False RAI1@p.L1357V 1 0.240384615 ENSG00000258436 chr17:17797017-17797017;C/G missense_variant False RAI1@p.M949I 1 0.206896552 ENSG00000258436 chr17:17795795-17795795;G/A missense_variant False RAI1@p.S1013C 1 0.272727273 ENSG00000258436 chr17:17795986-17795986;C/G missense_variant False RAI1@p.S1306C 1 0.176470588 ENSG00000258436 chr17:17796865-17796865;C/G missense_variant False RAI1@p.S1420C 1 0.109375 ENSG00000258436 chr17:17797207-17797207;C/G missense_variant False RAI1@p.S1508F 1 0.828571429 ENSG00000258436 chr17:17797471-17797471;C/T missense_variant False RAI1@p.S1550C 1 0.072222222 ENSG00000258436 chr17:17797597-17797597;C/G missense_variant False RAI1@p.S1616F 1 0.360294118 ENSG00000258436 chr17:17797795-17797795;C/T missense_variant False RAI1@p.S1630C 1 0.10989011 ENSG00000258436 chr17:17797837-17797837;C/G missense_variant False RAI1@p.S3C 1 0.379310345 ENSG00000258436 chr17:17792956-17792956;C/G missense_variant False RAI1@p.S565P 1 0.416666667 ENSG00000258436 chr17:17794641-17794641;T/C missense_variant False RAI1@p.S67C 1 0.333333333 ENSG00000258436 chr17:17793148-17793148;C/G missense_variant False RAI2@p.E163K 1 0.263157895 ENSG00000131831 chrX:17801524-17801524;C/T missense_variant False QSER1@p.S1227C 1 0.368888889 ENSG00000060749 chr11:32935325-32935325;C/G missense_variant False QSER1@p.Q717E 1 0.293333333 ENSG00000060749 chr11:32933794-32933794;C/G missense_variant False QSER1@p.Q697E 1 0.340909091 ENSG00000060749 chr11:32933734-32933734;C/G missense_variant False PTPRE@p.S294L 1 0.170212766 ENSG00000132334 chr10:128068160-128068160;C/T missense_variant False PTPRF@p.L113M 1 0.482758621 ENSG00000142949 chr1:43553899-43553899;C/A missense_variant False PTPRF@p.H1102Y 1 0.1875 ENSG00000142949 chr1:43605358-43605358;C/T missense_variant False PTPRF@p.G1790E 1 0.25 ENSG00000142949 chr1:43620842-43620842;G/A missense_variant False PTPRF@p.E1453K 1 0.4 ENSG00000142949 chr1:43617897-43617897;G/A missense_variant False PTPRF@p.D1767H 1 0.352941176 ENSG00000142949 chr1:43620514-43620514;G/C missense_variant False PTPRF@p.A1787S 1 0.466666667 ENSG00000142949 chr1:43620574-43620574;G/T missense_variant False PTPRE@p.P39S 1 0.5 ENSG00000132334 chr10:128047395-128047395;C/T missense_variant False PTPRD@p.R811H 1 0.448051948 ENSG00000153707 chr9:8492897-8492897;C/T missense_variant False PTPRE@p.P39L 1 0.473684211 ENSG00000132334 chr10:128047396-128047396;C/T missense_variant False PTPRE@p.P39A 1 0.454545455 ENSG00000132334 chr10:128047395-128047395;C/G missense_variant False PTPRE@p.G252C 1 0.129411765 ENSG00000132334 chr10:128066105-128066105;G/T missense_variant False PTPRD@p.V1250M 1 0.366666667 ENSG00000153707 chr9:8460538-8460538;C/T missense_variant False PTPRD@p.T706S 1 0.35106383 ENSG00000153707 chr9:8500765-8500765;G/C missense_variant False PTPRD@p.T1100M 1 0.125 ENSG00000153707 chr9:8484233-8484233;G/A missense_variant False PTPRF@p.Q1791E 1 0.2 ENSG00000142949 chr1:43620844-43620844;C/G missense_variant False PTPRF@p.R1391P 1 0.32173913 ENSG00000142949 chr1:43617545-43617545;G/C missense_variant False PTPRF@p.R1436K 1 0.136363636 ENSG00000142949 chr1:43617847-43617847;G/A missense_variant False PTPRF@p.S1396C 1 0.374193548 ENSG00000142949 chr1:43617560-43617560;C/G missense_variant False PTPRF@p.S1585L 1 0.161290323 ENSG00000142949 chr1:43619395-43619395;C/T missense_variant False PTPRF@p.T1095P 1 0.210526316 ENSG00000142949 chr1:43605337-43605337;A/C missense_variant False PTPRG@p.A145S 1 0.511111111 ENSG00000144724 chr3:62003411-62003411;G/T missense_variant False PTPRG@p.D710H 1 0.278350515 ENSG00000144724 chr3:62203923-62203923;G/C missense_variant False PTPRG@p.E1033K 1 0.347222222 ENSG00000144724 chr3:62271470-62271470;G/A missense_variant False PTPRG@p.E282Q 1 0.352941176 ENSG00000144724 chr3:62167974-62167974;G/C missense_variant False PTPRG@p.E98Q 1 0.133333333 ENSG00000144724 chr3:61989726-61989726;G/C missense_variant False PTPRG@p.M439K 1 0.129032258 ENSG00000144724 chr3:62195159-62195159;T/A missense_variant False PTPRG@p.R272T 1 0.066666667 ENSG00000144724 chr3:62157199-62157199;G/C missense_variant False PTPRG@p.R311C 1 0.153846154 ENSG00000144724 chr3:62168061-62168061;C/T missense_variant False PTPRG@p.S19F 1 0.06097561 ENSG00000144724 chr3:61562343-61562343;C/T missense_variant False PTPRG@p.T1105N 1 0.214285714 ENSG00000144724 chr3:62273077-62273077;C/A missense_variant False PTPRG@p.T73M 1 0.203389831 ENSG00000144724 chr3:61989652-61989652;C/T missense_variant False PTPRD@p.S625T 1 0.171428571 ENSG00000153707 chr9:8501008-8501008;C/G missense_variant False PTPRD@p.R716H 1 0.372340426 ENSG00000153707 chr9:8499822-8499822;C/T missense_variant False PTPRH@p.G372E 1 0.413533835 ENSG00000080031 chr19:55202094-55202094;C/T missense_variant False PTPRC@p.S177F 1 0.494505495 ENSG00000081237 chr1:198702477-198702477;C/T missense_variant False PTPRD@p.D1409H 1 0.193717277 ENSG00000153707 chr9:8389393-8389393;C/G missense_variant False PTPRD@p.A94V 1 0.282051282 ENSG00000153707 chr9:8633388-8633388;G/A missense_variant False PTPRD@p.A1387V 1 0.157894737 ENSG00000153707 chr9:8404587-8404587;G/A missense_variant False PTPRD@p.A1231T 1 0.405940594 ENSG00000153707 chr9:8465489-8465489;C/T missense_variant False PTPRD@p.A1193V 1 0.245901639 ENSG00000153707 chr9:8465602-8465602;G/A missense_variant False PTPRC@p.V1103I 1 0.168831169 ENSG00000081237 chr1:198752348-198752348;G/A missense_variant False PTPRC@p.S1306L 1 0.254545455 ENSG00000081237 chr1:198756177-198756177;C/T missense_variant False PTPRD@p.R1088C 1 0.247058824 ENSG00000153707 chr9:8484270-8484270;G/A missense_variant False PTPRC@p.S1153A 1 0.096774194 ENSG00000081237 chr1:198752720-198752720;T/G missense_variant False PTPRC@p.R1115Q 1 0.425 ENSG00000081237 chr1:198752607-198752607;G/A missense_variant False PTPRC@p.Q407E 1 0.25 ENSG00000081237 chr1:198713000-198713000;C/G missense_variant False PTPRC@p.L687F 1 0.071428571 ENSG00000081237 chr1:198732384-198732384;C/T missense_variant False PTPRC@p.K366M 1 0.12 ENSG00000081237 chr1:198709750-198709750;A/T missense_variant False PTPRC@p.E1192Q 1 0.32 ENSG00000081237 chr1:198754333-198754333;G/C missense_variant False PTPRD@p.D388N 1 0.201438849 ENSG00000153707 chr9:8518229-8518229;C/T missense_variant False PTPRD@p.D92H 1 0.278846154 ENSG00000153707 chr9:8633395-8633395;C/G missense_variant False PTPRD@p.E1042D 1 0.457142857 ENSG00000153707 chr9:8485254-8485254;C/A missense_variant False PTPRD@p.E1135K 1 0.062992126 ENSG00000153707 chr9:8484129-8484129;C/T missense_variant False PTPRD@p.E1159D 1 0.47706422 ENSG00000153707 chr9:8471022-8471022;C/G missense_variant False PTPRD@p.E1265K 1 0.303030303 ENSG00000153707 chr9:8460493-8460493;C/T missense_variant False PTPRD@p.E698K 1 0.472527473 ENSG00000153707 chr9:8500790-8500790;C/T missense_variant False PTPRD@p.E721Q 1 0.318181818 ENSG00000153707 chr9:8499808-8499808;C/G missense_variant False PTPRD@p.I434M 1 0.430232558 ENSG00000153707 chr9:8518089-8518089;A/C missense_variant False PTPRD@p.I84M 1 0.442307692 ENSG00000153707 chr9:8633417-8633417;T/C missense_variant False PTPRD@p.K491N 1 0.189655172 ENSG00000153707 chr9:8517918-8517918;T/G missense_variant False PTPRD@p.M1331I 1 0.063829787 ENSG00000153707 chr9:8436685-8436685;C/G missense_variant False PTPRD@p.M457V 1 0.328358209 ENSG00000153707 chr9:8518022-8518022;T/C missense_variant False PTPRD@p.N397K 1 0.23828125 ENSG00000153707 chr9:8518200-8518200;A/T missense_variant False PTPRD@p.P1273S 1 0.47826087 ENSG00000153707 chr9:8460469-8460469;G/A missense_variant False PTPRD@p.P1544H 1 0.41025641 ENSG00000153707 chr9:8375966-8375966;G/T missense_variant False PTPRD@p.Q475R 1 0.158536585 ENSG00000153707 chr9:8517967-8517967;T/C missense_variant False PTPRH@p.G1014S 1 0.115384615 ENSG00000080031 chr19:55185524-55185524;C/T missense_variant False PTPRH@p.P53T 1 0.966666667 ENSG00000080031 chr19:55206884-55206884;G/T missense_variant False PTPRC@p.D1002H 1 0.25862069 ENSG00000081237 chr1:198749481-198749481;G/C missense_variant False PTPRO@p.E1041Q 1 0.2 ENSG00000151490 chr12:15580820-15580820;G/C missense_variant False PTPRO@p.Y208C 1 0.304347826 ENSG00000151490 chr12:15499556-15499556;A/G missense_variant False PTPRO@p.L844V 1 0.146067416 ENSG00000151490 chr12:15551643-15551643;C/G missense_variant False PTPRO@p.K680N 1 0.224489796 ENSG00000151490 chr12:15524962-15524962;G/C missense_variant False PTPRO@p.K1199N 1 0.619047619 ENSG00000151490 chr12:15594987-15594987;G/C missense_variant False PTPRO@p.E63K 1 0.368421053 ENSG00000151490 chr12:15484085-15484085;G/A missense_variant False PTPRO@p.E310K 1 0.361111111 ENSG00000151490 chr12:15501886-15501886;G/A missense_variant False PTPRO@p.D36N 1 0.4 ENSG00000151490 chr12:15484004-15484004;G/A missense_variant False PTPRN2@p.E50K 1 0.444444444 ENSG00000155093 chr7:158489750-158489750;C/T missense_variant False PTPRN@p.Y855S 1 0.923076923 ENSG00000054356 chr2:219295086-219295086;T/G missense_variant False PTPRN@p.R706W 1 0.647058824 ENSG00000054356 chr2:219297105-219297105;G/A missense_variant False PTPRN@p.R292G 1 0.714285714 ENSG00000054356 chr2:219302257-219302257;T/C missense_variant False PTPRN@p.D774Y 1 0.290322581 ENSG00000054356 chr2:219296507-219296507;C/A missense_variant False PTPRN2@p.T900M 1 0.272727273 ENSG00000155093 chr7:157576697-157576697;G/A missense_variant False PTPRN2@p.R812S 1 0.254716981 ENSG00000155093 chr7:157595298-157595298;C/A missense_variant False PTPRR@p.D27N 1 0.380530973 ENSG00000153233 chr12:70892957-70892957;C/T missense_variant False PEX1@p.D783N 1 0.455598456 ENSG00000127980 chr7:92501959-92501959;C/T missense_variant False PTPRR@p.P360R 1 0.329411765 ENSG00000153233 chr12:70701252-70701252;G/C missense_variant False PTPRR@p.S320C 1 0.264705882 ENSG00000153233 chr12:70745866-70745866;G/C missense_variant False PTPRS@p.D716N 1 0.242424242 ENSG00000105426 chr19:5231319-5231319;C/T missense_variant False PTPRS@p.E1562K 1 0.333333333 ENSG00000105426 chr19:5212422-5212422;C/T missense_variant False PTPRS@p.F1839L 1 0.216216216 ENSG00000105426 chr19:5208362-5208362;G/C missense_variant False PTPRS@p.G830A 1 0.060606061 ENSG00000105426 chr19:5225732-5225732;C/G missense_variant False PTPRS@p.I1487F 1 0.166666667 ENSG00000105426 chr19:5214596-5214596;T/A missense_variant False PTPRS@p.P426S 1 0.292035398 ENSG00000105426 chr19:5244195-5244195;G/A missense_variant False PTPRS@p.R1432C 1 0.226666667 ENSG00000105426 chr19:5215313-5215313;G/A missense_variant False PTPRS@p.R1492Q 1 0.228915663 ENSG00000105426 chr19:5214580-5214580;C/T missense_variant False PTPRS@p.S1733C 1 0.470588235 ENSG00000105426 chr19:5211626-5211626;G/C missense_variant False PTPRS@p.T1510A 1 0.209302326 ENSG00000105426 chr19:5214447-5214447;T/C missense_variant False PTPRT@p.A1096G 1 0.135802469 ENSG00000196090 chr20:42106889-42106889;G/C missense_variant False PTPRT@p.A119V 1 0.436170213 ENSG00000196090 chr20:42791325-42791325;G/A missense_variant False PTPRT@p.A868T 1 0.523076923 ENSG00000196090 chr20:42161432-42161432;C/T missense_variant False PTPRN2@p.G350D 1 0.474576271 ENSG00000155093 chr7:158138377-158138377;C/T missense_variant False PTPRN2@p.D99H 1 0.666666667 ENSG00000155093 chr7:158205256-158205256;C/G missense_variant False PTPRH@p.S271L 1 0.318181818 ENSG00000080031 chr19:55203856-55203856;G/A missense_variant False PTPRJ@p.V314M 1 0.223880597 ENSG00000149177 chr11:48125033-48125033;G/A missense_variant False PTPRK@p.E400K 1 0.27972028 ENSG00000152894 chr6:128089957-128089957;C/T missense_variant False PTPRK@p.E360K 1 0.174418605 ENSG00000152894 chr6:128184516-128184516;C/T missense_variant False PTPRK@p.E1190K 1 0.193548387 ENSG00000152894 chr6:127981256-127981256;C/T missense_variant False PTPRK@p.D237H 1 0.144578313 ENSG00000152894 chr6:128219081-128219081;C/G missense_variant False PTPRK@p.D1002H 1 0.213333333 ENSG00000152894 chr6:127990858-127990858;C/G missense_variant False PTPRJ@p.Y1320F 1 0.435185185 ENSG00000149177 chr11:48167307-48167307;A/T missense_variant False PTPRJ@p.S1090L 1 0.076923077 ENSG00000149177 chr11:48155840-48155840;C/T missense_variant False PTPRN2@p.D925N 1 0.1 ENSG00000155093 chr7:157576623-157576623;C/T missense_variant False PTPRJ@p.Q78E 1 0.298507463 ENSG00000149177 chr11:48112863-48112863;C/G missense_variant False PTPRJ@p.F648V 1 0.213592233 ENSG00000149177 chr11:48137071-48137071;T/G missense_variant False PTPRJ@p.A306T 1 0.075342466 ENSG00000149177 chr11:48125009-48125009;G/A missense_variant False PTPRJ@p.A146T 1 0.267857143 ENSG00000149177 chr11:48121086-48121086;G/A missense_variant False PTPRH@p.V1070I 1 0.271028037 ENSG00000080031 chr19:55181894-55181894;C/T missense_variant False PTPRH@p.S937L 1 0.196850394 ENSG00000080031 chr19:55185953-55185953;G/A missense_variant False PTPRK@p.G917V 1 0.342857143 ENSG00000152894 chr6:127996915-127996915;C/A missense_variant False PTPRK@p.L301F 1 0.358974359 ENSG00000152894 chr6:128184693-128184693;G/A missense_variant False PTPRK@p.L811V 1 0.101265823 ENSG00000152894 chr6:128005144-128005144;G/C missense_variant False PTPRK@p.R1426C 1 0.217391304 ENSG00000152894 chr6:127970271-127970271;G/A missense_variant False PTPRK@p.S1347F 1 0.257575758 ENSG00000152894 chr6:127973754-127973754;G/A missense_variant False PTPRM@p.A82D 1 0.224806202 ENSG00000173482 chr18:7888154-7888154;C/A missense_variant False PTPRM@p.E1049K 1 0.231884058 ENSG00000173482 chr18:8376058-8376058;G/A missense_variant False PTPRM@p.E1049Q 1 0.106382979 ENSG00000173482 chr18:8376058-8376058;G/C missense_variant False PTPRM@p.G686E 1 0.129251701 ENSG00000173482 chr18:8113686-8113686;G/A missense_variant False PTPRM@p.H1279Y 1 0.441176471 ENSG00000173482 chr18:8380383-8380383;C/T missense_variant False PTPRM@p.K793N 1 0.443243243 ENSG00000173482 chr18:8244136-8244136;G/C missense_variant False PTPRM@p.L114P 1 0.243902439 ENSG00000173482 chr18:7888250-7888250;T/C missense_variant False PTPRM@p.R253P 1 0.394736842 ENSG00000173482 chr18:7949275-7949275;G/C missense_variant False PTPRM@p.R614T 1 0.68852459 ENSG00000173482 chr18:8088836-8088836;G/C missense_variant False PTPRM@p.S133C 1 0.234042553 ENSG00000173482 chr18:7888307-7888307;C/G missense_variant False PTPRM@p.S271L 1 0.225 ENSG00000173482 chr18:7949329-7949329;C/T missense_variant False PTPRN2@p.A617V 1 0.452830189 ENSG00000155093 chr7:157682876-157682876;G/A missense_variant False PTPRC@p.D114N 1 0.293706294 ENSG00000081237 chr1:198699605-198699605;G/A missense_variant False PTPRC@p.A584V 1 0.237288136 ENSG00000081237 chr1:198728370-198728370;C/T missense_variant False PTPRT@p.D223Y 1 0.278825996 ENSG00000196090 chr20:42771452-42771452;C/A missense_variant False PTPN13@p.D840H 1 0.333333333 ENSG00000163629 chr4:86744996-86744996;G/C missense_variant False PTPN13@p.F255L 1 0.263157895 ENSG00000163629 chr4:86701371-86701371;C/G missense_variant False PTPN13@p.E83Q 1 0.533333333 ENSG00000163629 chr4:86672496-86672496;G/C missense_variant False PTPN13@p.E269Q 1 0.272727273 ENSG00000163629 chr4:86701411-86701411;G/C missense_variant False PTPN13@p.E2475Q 1 0.319148936 ENSG00000163629 chr4:86814516-86814516;G/C missense_variant False PTPN13@p.E2364Q 1 0.145833333 ENSG00000163629 chr4:86809775-86809775;G/C missense_variant False PTPN13@p.E1169K 1 0.342105263 ENSG00000163629 chr4:86759025-86759025;G/A missense_variant False PTPN13@p.D2380H 1 0.182795699 ENSG00000163629 chr4:86809823-86809823;G/C missense_variant False PTPN11@p.R23K 1 0.042682927 ENSG00000179295 chr12:112446329-112446329;G/A missense_variant True PTPN13@p.A957G 1 0.255813953 ENSG00000163629 chr4:86750689-86750689;C/G missense_variant False PTPN12@p.Q575K 1 0.046875 ENSG00000127947 chr7:77627402-77627402;C/A missense_variant False PTPN12@p.M216I 1 0.096774194 ENSG00000127947 chr7:77600759-77600759;G/A missense_variant False PTPN12@p.H360Y 1 0.112903226 ENSG00000127947 chr7:77626757-77626757;C/T missense_variant False PTPN12@p.D331N 1 0.23943662 ENSG00000127947 chr7:77618531-77618531;G/A missense_variant False PTPN11@p.V301A 1 0.220588235 ENSG00000179295 chr12:112477699-112477699;T/C missense_variant True PTPN13@p.F277L 1 0.380952381 ENSG00000163629 chr4:86701437-86701437;C/G missense_variant False PTPN13@p.I509M 1 0.120805369 ENSG00000163629 chr4:86722353-86722353;C/G missense_variant False PTPN13@p.L1728V 1 0.382022472 ENSG00000163629 chr4:86772791-86772791;C/G missense_variant False PTPN13@p.N1507Ifs*5 1 0.25 ENSG00000163629 chr4:86769795-86769795;A/- frameshift_variant False PTPN13@p.R812H 1 0.222222222 ENSG00000163629 chr4:86741764-86741764;G/A missense_variant False PTPN13@p.S1744C 1 0.271186441 ENSG00000163629 chr4:86772840-86772840;C/G missense_variant False PTPN14@p.D812V 1 0.118644068 ENSG00000152104 chr1:214383420-214383420;T/A missense_variant False PTPN14@p.H360Qfs*4 1 0.642857143 ENSG00000152104 chr1:214384775-214384776;-/T frameshift_variant False PTPN14@p.I291S 1 0.257731959 ENSG00000152104 chr1:214393752-214393752;A/C missense_variant False PTPN14@p.K453N 1 0.207792208 ENSG00000152104 chr1:214384496-214384496;C/G missense_variant False PTPN14@p.L268V 1 0.17791411 ENSG00000152104 chr1:214394943-214394943;G/C missense_variant False PTPN14@p.P676L 1 0.326530612 ENSG00000152104 chr1:214383828-214383828;G/A missense_variant False PTPN14@p.R940C 1 0.244186047 ENSG00000152104 chr1:214376308-214376308;G/A missense_variant False PTPN14@p.S605L 1 0.173333333 ENSG00000152104 chr1:214384041-214384041;G/A missense_variant False PTPN1@p.D265N 1 0.396341463 ENSG00000196396 chr20:50579258-50579258;G/A missense_variant False PTPN1@p.G351E 1 0.356164384 ENSG00000196396 chr20:50579890-50579890;G/A missense_variant False PTPN1@p.H173Y 1 0.12605042 ENSG00000196396 chr20:50578444-50578444;C/T missense_variant False PTPN11@p.R362K 1 0.586956522 ENSG00000179295 chr12:112478008-112478008;G/A missense_variant True PTPN11@p.I309M 1 0.269230769 ENSG00000179295 chr12:112477724-112477724;C/G missense_variant True PTPN20@p.L25F 1 0.118120805 ENSG00000204179 chr10:46940663-46940663;G/C missense_variant False PTK2B@p.D37Y 1 0.529411765 ENSG00000120899 chr8:27397693-27397693;G/T missense_variant False PTK7@p.E657Q 1 0.087912088 ENSG00000112655 chr6:43142221-43142221;G/C missense_variant False PTK7@p.E54K 1 0.525 ENSG00000112655 chr6:43129057-43129057;G/A missense_variant False PTK6@p.G54D 1 0.357142857 ENSG00000101213 chr20:63537154-63537154;C/T missense_variant False PTK2B@p.E639Q 1 0.476190476 ENSG00000120899 chr8:27440317-27440317;G/C missense_variant False PTK2B@p.E126K 1 0.521126761 ENSG00000120899 chr8:27420066-27420066;G/A missense_variant False PTK2B@p.D462G 1 0.43715847 ENSG00000120899 chr8:27437165-27437165;A/G missense_variant False PTK2@p.R797L 1 0.127272727 ENSG00000169398 chr8:140701000-140701000;C/A missense_variant False PTPMT1@p.E73K 1 0.475 ENSG00000110536 chr11:47565948-47565948;G/A missense_variant False PTK2@p.Q624E 1 0.084656085 ENSG00000169398 chr8:140735411-140735411;G/C missense_variant False PTK2@p.Q1006_Q1014del 1 0.2 ENSG00000169398 chr8:140659584-140659610;TGCTGGAGGCTGGTCATGACATACTGC/- inframe_deletion False PTK2@p.L134V 1 0.438202247 ENSG00000169398 chr8:140864362-140864362;G/C missense_variant False PTK2@p.I860M 1 0.470588235 ENSG00000169398 chr8:140675482-140675482;T/C missense_variant False PTK2@p.H776D 1 0.125 ENSG00000169398 chr8:140702611-140702611;G/C missense_variant False PTK2@p.E492D 1 0.418181818 ENSG00000169398 chr8:140746802-140746802;C/A missense_variant False PTK7@p.L949V 1 0.451612903 ENSG00000112655 chr6:43158940-43158940;C/G missense_variant False PTK7@p.P58A 1 0.405405405 ENSG00000112655 chr6:43129069-43129069;C/G missense_variant False PTK7@p.R104W 1 0.641025641 ENSG00000112655 chr6:43129207-43129207;C/T missense_variant False PTMA@p.E79Mfs*42 1 0.361111111 ENSG00000187514 chr2:231712460-231712461;-/AT frameshift_variant False PTN@p.E108K 1 0.21192053 ENSG00000105894 chr7:137251359-137251359;C/T missense_variant False PTN@p.Q4E 1 0.222222222 ENSG00000105894 chr7:137254964-137254964;G/C missense_variant False PTOV1@p.R230Q 1 0.213235294 ENSG00000104960 chr19:49857105-49857105;G/A missense_variant False PTOV1@p.S247L 1 0.34375 ENSG00000104960 chr19:49857718-49857718;C/T missense_variant False PTP4A2@p.D51H 1 0.41025641 ENSG00000184007 chr1:31915933-31915933;C/G missense_variant False PTP4A2@p.E12D 1 0.451219512 ENSG00000184007 chr1:31919030-31919030;C/G missense_variant False PTPDC1@p.D298H 1 0.245614035 ENSG00000158079 chr9:94097620-94097620;G/C missense_variant False PTPDC1@p.E21K 1 0.42 ENSG00000158079 chr9:94064800-94064800;G/A missense_variant False PTPDC1@p.E66Q 1 0.475247525 ENSG00000158079 chr9:94085364-94085364;G/C missense_variant False PTPDC1@p.R269C 1 0.451327434 ENSG00000158079 chr9:94097533-94097533;C/T missense_variant False PTPDC1@p.R271C 1 0.289156627 ENSG00000158079 chr9:94097539-94097539;C/T missense_variant False PTPDC1@p.S553C 1 0.375 ENSG00000158079 chr9:94098386-94098386;C/G missense_variant False PTPMT1@p.E181Q 1 0.181818182 ENSG00000110536 chr11:47571564-47571564;G/C missense_variant False PTPN20@p.D24H 1 0.1953125 ENSG00000204179 chr10:46940658-46940658;G/C missense_variant False PTPN20@p.P181Q 1 0.318181818 ENSG00000204179 chr10:46968006-46968006;C/A missense_variant False PTPRB@p.Y1512C 1 0.433823529 ENSG00000127329 chr12:70552975-70552975;T/C missense_variant False PTPN9@p.E405Q 1 0.320895522 ENSG00000169410 chr15:75470826-75470826;C/G missense_variant False PTPN9@p.L167F 1 0.369565217 ENSG00000169410 chr15:75517288-75517288;G/A missense_variant False PTPN9@p.K170E 1 0.109375 ENSG00000169410 chr15:75517279-75517279;T/C missense_variant False PTPN9@p.I202M 1 0.08 ENSG00000169410 chr15:75508950-75508950;G/C missense_variant False PTPN9@p.G334R 1 0.240963855 ENSG00000169410 chr15:75490270-75490270;C/G missense_variant False PTPN9@p.F267L 1 0.14084507 ENSG00000169410 chr15:75505842-75505842;G/C missense_variant False PTPN9@p.E562Q 1 0.38372093 ENSG00000169410 chr15:75468867-75468867;C/G missense_variant False PTPN9@p.E263K 1 0.673913043 ENSG00000169410 chr15:75505856-75505856;C/T missense_variant False PTPN4@p.G653A 1 0.469387755 ENSG00000088179 chr2:119955301-119955301;G/C missense_variant False PTPN9@p.D309H 1 0.353107345 ENSG00000169410 chr15:75505718-75505718;C/G missense_variant False PTPN9@p.D259N 1 0.253333333 ENSG00000169410 chr15:75505868-75505868;C/T missense_variant False PTPN6@p.I307M 1 0.125 ENSG00000111679 chr12:6956218-6956218;C/G missense_variant False PTPN5@p.P62S 1 0.107023411 ENSG00000110786 chr11:18744113-18744113;G/A missense_variant False PTPN4@p.N604Y 1 0.109195402 ENSG00000088179 chr2:119952126-119952126;A/T missense_variant False PTPN4@p.L64F 1 0.127272727 ENSG00000088179 chr2:119862589-119862589;G/T missense_variant False PTPN9@p.P469T 1 0.236111111 ENSG00000169410 chr15:75469954-75469954;G/T missense_variant False PTPRA@p.E46Q 1 0.299065421 ENSG00000132670 chr20:2964923-2964923;G/C missense_variant False PTPRA@p.S84C 1 0.214285714 ENSG00000132670 chr20:2965038-2965038;C/G missense_variant False PTPRB@p.D1200N 1 0.153846154 ENSG00000127329 chr12:70560851-70560851;C/T missense_variant False PTPRB@p.D1928N 1 0.341463415 ENSG00000127329 chr12:70532103-70532103;C/T missense_variant False PTPRB@p.E230K 1 0.25 ENSG00000127329 chr12:70594641-70594641;C/T missense_variant False PTPRB@p.E960Q 1 0.253012048 ENSG00000127329 chr12:70569777-70569777;C/G missense_variant False PTPRB@p.G1872A 1 0.088235294 ENSG00000127329 chr12:70534587-70534587;C/G missense_variant False PTPRB@p.G757A 1 0.113095238 ENSG00000127329 chr12:70572006-70572006;C/G missense_variant False PTPRB@p.H326Y 1 0.109090909 ENSG00000127329 chr12:70592432-70592432;G/A missense_variant False PTPRB@p.H62D 1 0.304347826 ENSG00000127329 chr12:70635938-70635938;G/C missense_variant False PTPRB@p.L1126V 1 0.107142857 ENSG00000127329 chr12:70562982-70562982;G/C missense_variant False PTPRB@p.L455V 1 0.5 ENSG00000127329 chr12:70589997-70589997;A/C missense_variant False PTPRB@p.N1291K 1 0.250896057 ENSG00000127329 chr12:70559530-70559530;G/T missense_variant False PTPRB@p.P1608S 1 0.448275862 ENSG00000127329 chr12:70544575-70544575;G/A missense_variant False PTPRB@p.Q1673H 1 0.097222222 ENSG00000127329 chr12:70539944-70539944;C/A missense_variant False PTPRB@p.Q1776E 1 0.25 ENSG00000127329 chr12:70536126-70536126;G/C missense_variant False PTPN4@p.L208I 1 0.211764706 ENSG00000088179 chr2:119885829-119885829;C/A missense_variant False PTPN4@p.G417S 1 0.333333333 ENSG00000088179 chr2:119934852-119934852;G/A missense_variant False PTPN21@p.A781T 1 0.113207547 ENSG00000070778 chr14:88479090-88479090;C/T missense_variant False PTPN21@p.S813C 1 0.274390244 ENSG00000070778 chr14:88478993-88478993;G/C missense_variant False PTPN22@p.K37E 1 0.638095238 ENSG00000134242 chr1:113859439-113859439;T/C missense_variant False PTPN22@p.K345Q 1 0.5 ENSG00000134242 chr1:113838367-113838367;T/G missense_variant False PTPN22@p.K291N 1 0.136029412 ENSG00000134242 chr1:113848582-113848582;C/G missense_variant False PTPN22@p.E423K 1 0.28 ENSG00000134242 chr1:113838133-113838133;C/T missense_variant False PTPN22@p.E382K 1 0.25 ENSG00000134242 chr1:113838256-113838256;C/T missense_variant False PTPN21@p.V777_P786del 1 0.076923077 ENSG00000070778 chr14:88479073-88479102;GGGCCGCTGGGCCTCTGCGGTCGTGCGGAC/- inframe_deletion False PTPN21@p.R817S 1 0.153846154 ENSG00000070778 chr14:88478980-88478980;C/A missense_variant False PTPN4@p.E787K 1 0.287671233 ENSG00000088179 chr2:119962694-119962694;G/A missense_variant False PTPN21@p.R436W 1 0.214285714 ENSG00000070778 chr14:88480125-88480125;G/A missense_variant False PTPN21@p.Q335Sfs*4 1 0.255813953 ENSG00000070778 chr14:88485151-88485151;G/- frameshift_variant False PTPN21@p.P523A 1 0.25 ENSG00000070778 chr14:88479864-88479864;G/C missense_variant False PTPN21@p.L836V 1 0.117647059 ENSG00000070778 chr14:88478925-88478925;G/C missense_variant False PTPN21@p.K1006N 1 0.333333333 ENSG00000070778 chr14:88469716-88469716;C/A missense_variant False PTPN21@p.E663K 1 0.6 ENSG00000070778 chr14:88479444-88479444;C/T missense_variant False PTPN22@p.L584S 1 0.096774194 ENSG00000134242 chr1:113837649-113837649;A/G missense_variant False PTPN22@p.L596S 1 0.24137931 ENSG00000134242 chr1:113837613-113837613;A/G missense_variant False PTPN22@p.Q475E 1 0.952380952 ENSG00000134242 chr1:113837977-113837977;G/C missense_variant False PTPN22@p.Q714P 1 0.19047619 ENSG00000134242 chr1:113829701-113829701;T/G missense_variant False PTPN22@p.S302C 1 0.350574713 ENSG00000134242 chr1:113848550-113848550;G/C missense_variant False PTPN22@p.S351C 1 0.179487179 ENSG00000134242 chr1:113838348-113838348;G/C missense_variant False PTPN22@p.S583Y 1 0.379310345 ENSG00000134242 chr1:113837652-113837652;G/T missense_variant False PTPN23@p.E113K 1 0.236842105 ENSG00000076201 chr3:47405054-47405054;G/A missense_variant False PTPN23@p.E191Q 1 0.109090909 ENSG00000076201 chr3:47406349-47406349;G/C missense_variant False PTPN23@p.Q234_W237del 1 0.327868852 ENSG00000076201 chr3:47406553-47406564;CAGAAGGACTGG/- inframe_deletion False PTPN3@p.A726Rfs*14 1 0.519230769 ENSG00000070159 chr9:109389298-109389310;GCCAAAACTGTGC/- frameshift_variant False PTPN3@p.E608K 1 0.179856115 ENSG00000070159 chr9:109404579-109404579;C/T missense_variant False PTPN3@p.G564Afs*13 1 0.369127517 ENSG00000070159 chr9:109406563-109406563;C/- frameshift_variant False PTPN3@p.S81F 1 0.366197183 ENSG00000070159 chr9:109457296-109457296;G/A missense_variant False PTPN3@p.T744M 1 0.489795918 ENSG00000070159 chr9:109389255-109389255;G/A missense_variant False PTPN4@p.D352N 1 0.17721519 ENSG00000088179 chr2:119926650-119926650;G/A missense_variant False PTPN4@p.E524K 1 0.214285714 ENSG00000088179 chr2:119946395-119946395;G/A missense_variant False PTPRT@p.D104N 1 0.325 ENSG00000196090 chr20:42791371-42791371;C/T missense_variant False PTPRT@p.E1107K 1 0.201754386 ENSG00000196090 chr20:42106857-42106857;C/T missense_variant False QSER1@p.N722D 1 0.258064516 ENSG00000060749 chr11:32933809-32933809;A/G missense_variant False PYGM@p.H478R 1 0.171597633 ENSG00000068976 chr11:64753158-64753158;T/C missense_variant False PYGM@p.S752Y 1 0.156862745 ENSG00000068976 chr11:64747281-64747281;G/T missense_variant False PYGM@p.R740W 1 0.322916667 ENSG00000068976 chr11:64747318-64747318;G/A missense_variant False PYGM@p.R735H 1 0.36 ENSG00000068976 chr11:64747332-64747332;C/T missense_variant False PYGM@p.R520C 1 0.541666667 ENSG00000068976 chr11:64752465-64752465;G/A missense_variant False PYGM@p.R185C 1 0.233333333 ENSG00000068976 chr11:64757886-64757886;G/A missense_variant False PYGM@p.H478Y 1 0.366071429 ENSG00000068976 chr11:64753159-64753159;G/A missense_variant False PYGM@p.F472L 1 0.300469484 ENSG00000068976 chr11:64753175-64753175;G/C missense_variant False PYGB@p.E797Q 1 0.128205128 ENSG00000100994 chr20:25296379-25296379;G/C missense_variant False PYGM@p.E706K 1 0.336 ENSG00000068976 chr11:64750437-64750437;C/T missense_variant False PYGM@p.D43Y 1 0.241635688 ENSG00000068976 chr11:64759772-64759772;C/A missense_variant False PYGL@p.E433K 1 0.372093023 ENSG00000100504 chr14:50915442-50915442;C/T missense_variant False PYGL@p.E27D 1 0.110091743 ENSG00000100504 chr14:50944323-50944323;C/G missense_variant False PYGL@p.E127K 1 0.228571429 ENSG00000100504 chr14:50935152-50935152;C/T missense_variant False PYGB@p.R842Q 1 0.238095238 ENSG00000100994 chr20:25296515-25296515;G/A missense_variant False PYGM@p.S809F 1 0.672727273 ENSG00000068976 chr11:64746762-64746762;G/A missense_variant False PYGM@p.W245C 1 0.121495327 ENSG00000068976 chr11:64755484-64755484;C/A missense_variant False PYGM@p.Y549H 1 0.289617486 ENSG00000068976 chr11:64752047-64752047;A/G missense_variant False PYGO1@p.E385Q 1 0.242857143 ENSG00000171016 chr15:55546130-55546130;C/G missense_variant False PYGO1@p.L91V 1 0.314285714 ENSG00000171016 chr15:55547012-55547012;G/C missense_variant False PYGO1@p.P35S 1 0.051020408 ENSG00000171016 chr15:55548942-55548942;G/A missense_variant False PYGO1@p.S335L 1 0.276315789 ENSG00000171016 chr15:55546279-55546279;G/A missense_variant False PYGO2@p.P116S 1 0.80952381 ENSG00000163348 chr1:154959654-154959654;G/A missense_variant False PYGO2@p.P303A 1 0.538461538 ENSG00000163348 chr1:154959093-154959093;G/C missense_variant False PYGO2@p.P53S 1 0.2 ENSG00000163348 chr1:154959843-154959843;G/A missense_variant False PYGO2@p.S290I 1 0.772727273 ENSG00000163348 chr1:154959131-154959131;C/A missense_variant False PYGO2@p.S374F 1 0.238095238 ENSG00000163348 chr1:154958879-154958879;G/A missense_variant False PYHIN1@p.G135R 1 0.689655172 ENSG00000163564 chr1:158938534-158938534;G/C missense_variant False PYHIN1@p.I48S 1 0.320987654 ENSG00000163564 chr1:158937053-158937053;T/G missense_variant False PYHIN1@p.L317V 1 0.68 ENSG00000163564 chr1:158942346-158942346;C/G missense_variant False PYHIN1@p.N486S 1 0.278195489 ENSG00000163564 chr1:158973744-158973744;A/G missense_variant False PYHIN1@p.R151S 1 0.23880597 ENSG00000163564 chr1:158939121-158939121;G/C missense_variant False PYGB@p.P836S 1 0.416666667 ENSG00000100994 chr20:25296496-25296496;C/T missense_variant False PYGB@p.E349K 1 0.130434783 ENSG00000100994 chr20:25279102-25279102;G/A missense_variant False PYM1@p.F53L 1 0.197368421 ENSG00000170473 chr12:55902328-55902328;G/C missense_variant False PXK@p.C196Y 1 0.089605735 ENSG00000168297 chr3:58391819-58391819;G/A missense_variant False PXMP4@p.S193N 1 0.883333333 ENSG00000101417 chr20:33707767-33707767;C/T missense_variant False PXMP2@p.R157W 1 0.34939759 ENSG00000176894 chr12:132701319-132701319;C/T missense_variant False PXK@p.R459Kfs*15 1 0.388888889 ENSG00000168297 chr3:58409590-58409591;-/A frameshift_variant False PXK@p.L75V 1 0.20754717 ENSG00000168297 chr3:58382535-58382535;C/G missense_variant False PXK@p.L564F 1 0.326923077 ENSG00000168297 chr3:58424915-58424915;G/C missense_variant False PXK@p.E454D 1 0.40625 ENSG00000168297 chr3:58409585-58409585;G/C missense_variant False PXK@p.A471P 1 0.407407407 ENSG00000168297 chr3:58410105-58410105;G/C missense_variant False PYGB@p.E274D 1 0.063157895 ENSG00000100994 chr20:25277293-25277293;G/C missense_variant False PXDNL@p.S937Y 1 0.511111111 ENSG00000147485 chr8:51408814-51408814;G/T missense_variant False PXDNL@p.S531L 1 0.146341463 ENSG00000147485 chr8:51426692-51426692;G/A missense_variant False PXDNL@p.S233I 1 0.114942529 ENSG00000147485 chr8:51472301-51472301;C/A missense_variant False PXDNL@p.S1137L 1 0.415458937 ENSG00000147485 chr8:51408214-51408214;G/A missense_variant False PXDNL@p.R762C 1 0.727272727 ENSG00000147485 chr8:51409340-51409340;G/A missense_variant False PXDNL@p.R713S 1 0.38 ENSG00000147485 chr8:51409485-51409485;C/A missense_variant False PXN@p.F590L 1 0.227272727 ENSG00000089159 chr12:120212320-120212320;G/C missense_variant False PXN@p.S227F 1 0.285714286 ENSG00000089159 chr12:120222564-120222564;G/A missense_variant False PXN@p.S489L 1 0.227272727 ENSG00000089159 chr12:120213885-120213885;G/A missense_variant False PXT1@p.F115Sfs*84 1 0.295454545 ENSG00000179165 chr6:36391831-36391831;A/- frameshift_variant False PXT1@p.H88Qfs*21 1 0.435897436 ENSG00000179165 chr6:36400483-36400490;CCCCAATG/T frameshift_variant False PXYLP1@p.D226H 1 0.25974026 ENSG00000155893 chr3:141292438-141292438;G/C missense_variant False PXYLP1@p.E79K 1 0.068181818 ENSG00000155893 chr3:141278497-141278497;G/A missense_variant False PXYLP1@p.H126Y 1 0.228915663 ENSG00000155893 chr3:141287324-141287324;C/T missense_variant False PXYLP1@p.N305S 1 0.131313131 ENSG00000155893 chr3:141292676-141292676;A/G missense_variant False PYCARD@p.D134N 1 0.44047619 ENSG00000103490 chr16:31201773-31201773;C/T missense_variant False PYCR1@p.S233F 1 0.111111111 ENSG00000183010 chr17:81934425-81934425;G/A missense_variant False PYCR2@p.G177R 1 0.318181818 ENSG00000143811 chr1:225921869-225921869;C/T missense_variant False PYDC1@p.E6K 1 0.118644068 ENSG00000169900 chr16:31217013-31217013;C/T missense_variant False PYDC1@p.E6Q 1 0.625 ENSG00000169900 chr16:31217013-31217013;C/G missense_variant False PYDC1@p.Y64C 1 0.25 ENSG00000169900 chr16:31216838-31216838;T/C missense_variant False PYDC2@p.Q44Rfs*4 1 0.1 ENSG00000253548 chr3:191461288-191461288;C/- frameshift_variant False PYGB@p.D321Y 1 0.140625 ENSG00000100994 chr20:25278424-25278424;G/T missense_variant False PYM1@p.E194Q 1 0.14600551 ENSG00000170473 chr12:55901907-55901907;C/G missense_variant False PYM1@p.K153N 1 0.046357616 ENSG00000170473 chr12:55902028-55902028;C/A missense_variant False PXDNL@p.L1064I 1 0.380952381 ENSG00000147485 chr8:51408434-51408434;G/T missense_variant False QRICH1@p.S261L 1 0.161764706 ENSG00000198218 chr3:49057418-49057418;G/A missense_variant False QRICH2@p.E1303K 1 0.25862069 ENSG00000129646 chr17:76280710-76280710;C/T missense_variant False QRICH2@p.E1109Rfs*29 1 0.233870968 ENSG00000129646 chr17:76287873-76287874;CC/- frameshift_variant False QRICH2@p.D530N 1 0.348684211 ENSG00000129646 chr17:76292641-76292641;C/T missense_variant False QRICH2@p.D440Y 1 0.3125 ENSG00000129646 chr17:76292911-76292911;C/A missense_variant False QRICH1@p.S518F 1 0.378378378 ENSG00000198218 chr3:49046543-49046543;G/A missense_variant False QRICH1@p.S4F 1 0.111111111 ENSG00000198218 chr3:49077007-49077007;G/A missense_variant False QRICH1@p.S116L 1 0.085714286 ENSG00000198218 chr3:49057853-49057853;G/A missense_variant False QRFPR@p.R160Q 1 0.457142857 ENSG00000186867 chr4:121340472-121340472;C/T missense_variant False QRICH1@p.R747T 1 0.074074074 ENSG00000198218 chr3:49030543-49030543;C/G missense_variant False QRICH1@p.N562S 1 0.492857143 ENSG00000198218 chr3:49044491-49044491;T/C missense_variant False QRICH1@p.L585V 1 0.153333333 ENSG00000198218 chr3:49044423-49044423;G/C missense_variant False QRICH1@p.L379F 1 0.306818182 ENSG00000198218 chr3:49057065-49057065;G/A missense_variant False QRICH1@p.H126Y 1 0.073863636 ENSG00000198218 chr3:49057824-49057824;G/A missense_variant False QRICH1@p.E454K 1 0.136842105 ENSG00000198218 chr3:49047225-49047225;C/T missense_variant False QRICH2@p.M1588I 1 0.35483871 ENSG00000129646 chr17:76277166-76277166;C/T missense_variant False QRICH2@p.P1204H 1 0.473684211 ENSG00000129646 chr17:76282018-76282018;G/T missense_variant False QRICH2@p.P965R 1 0.490196078 ENSG00000129646 chr17:76291335-76291335;G/C missense_variant False QRICH2@p.Q1531E 1 0.252427184 ENSG00000129646 chr17:76278017-76278017;G/C missense_variant False QRICH2@p.R1482W 1 0.283018868 ENSG00000129646 chr17:76278164-76278164;G/A missense_variant False QRICH2@p.R693H 1 0.141176471 ENSG00000129646 chr17:76292151-76292151;C/T missense_variant False QRICH2@p.R793H 1 0.430769231 ENSG00000129646 chr17:76291851-76291851;C/T missense_variant False QRICH2@p.R872Q 1 0.418032787 ENSG00000129646 chr17:76291614-76291614;C/T missense_variant False QRICH2@p.S1656L 1 0.202531646 ENSG00000129646 chr17:76275836-76275836;G/A missense_variant False QRSL1@p.K33N 1 0.613636364 ENSG00000130348 chr6:106640423-106640423;G/C missense_variant False QRSL1@p.S226L 1 0.442307692 ENSG00000130348 chr6:106652328-106652328;C/T missense_variant False QSER1@p.D1621N 1 0.444444444 ENSG00000060749 chr11:32973439-32973439;G/A missense_variant False QSER1@p.D603H 1 0.482142857 ENSG00000060749 chr11:32933452-32933452;G/C missense_variant False QSER1@p.E1060K 1 0.121621622 ENSG00000060749 chr11:32934823-32934823;G/A missense_variant False QSER1@p.E1703Q 1 0.203703704 ENSG00000060749 chr11:32976373-32976373;G/C missense_variant False QSER1@p.G380V 1 0.393442623 ENSG00000060749 chr11:32932784-32932784;G/T missense_variant False QSER1@p.L1296V 1 0.37037037 ENSG00000060749 chr11:32953952-32953952;C/G missense_variant False QRFPR@p.Y305F 1 0.421052632 ENSG00000186867 chr4:121329696-121329696;T/A missense_variant False QRFPR@p.Q403P 1 0.108108108 ENSG00000186867 chr4:121329402-121329402;T/G missense_variant False PYROXD1@p.D64H 1 0.120689655 ENSG00000121350 chr12:21445371-21445371;G/C missense_variant False PZP@p.L939F 1 0.308571429 ENSG00000126838 chr12:9161088-9161088;C/G missense_variant False PZP@p.V282F 1 0.378571429 ENSG00000126838 chr12:9197035-9197035;C/A missense_variant False PZP@p.S383P 1 0.178947368 ENSG00000126838 chr12:9194184-9194184;A/G missense_variant False PZP@p.S194L 1 0.102564103 ENSG00000126838 chr12:9200981-9200981;G/A missense_variant False PZP@p.S1436F 1 0.465909091 ENSG00000126838 chr12:9150721-9150721;G/A missense_variant False PZP@p.R171T 1 0.189873418 ENSG00000126838 chr12:9201050-9201050;C/G missense_variant False PZP@p.R1059G 1 0.173076923 ENSG00000126838 chr12:9158539-9158539;G/C missense_variant False PZP@p.K1153E 1 0.134453782 ENSG00000126838 chr12:9157268-9157268;T/C missense_variant False QRFP@p.S62L 1 0.152173913 ENSG00000188710 chr9:130893654-130893654;G/A missense_variant False PZP@p.I906M 1 0.327272727 ENSG00000126838 chr12:9163686-9163686;G/C missense_variant False PZP@p.E935Q 1 0.26446281 ENSG00000126838 chr12:9161102-9161102;C/G missense_variant False PZP@p.E1313Q 1 0.306603774 ENSG00000126838 chr12:9153181-9153181;C/G missense_variant False PZP@p.D1299H 1 0.716981132 ENSG00000126838 chr12:9153223-9153223;C/G missense_variant False PYROXD1@p.E472Q 1 0.348837209 ENSG00000121350 chr12:21468665-21468665;G/C missense_variant False PYROXD1@p.E406Q 1 0.321428571 ENSG00000121350 chr12:21467580-21467580;G/C missense_variant False QARS1@p.C687Y 1 0.375 ENSG00000172053 chr3:49098377-49098377;C/T missense_variant False QARS1@p.E84K 1 0.566037736 ENSG00000172053 chr3:49104339-49104339;C/T missense_variant False QARS1@p.K25N 1 0.359550562 ENSG00000172053 chr3:49104659-49104659;C/A missense_variant False QDPR@p.R31W 1 0.166666667 ENSG00000151552 chr4:17511964-17511964;G/A missense_variant False QDPR@p.W215C 1 0.815789474 ENSG00000151552 chr4:17487221-17487221;C/G missense_variant False QKI@p.R106T 1 0.168421053 ENSG00000112531 chr6:163478811-163478811;G/C missense_variant False QKI@p.Y288del 1 0.196581197 ENSG00000112531 chr6:163563646-163563648;CTA/- inframe_deletion False QPCT@p.G80E 1 0.322580645 ENSG00000115828 chr2:37352907-37352907;G/A missense_variant False QPCT@p.L244Ffs*32 1 0.273684211 ENSG00000115828 chr2:37369690-37369691;-/T frameshift_variant False QPCTL@p.F346Y 1 0.048275862 ENSG00000011478 chr19:45702937-45702937;T/A missense_variant False QPCTL@p.L341V 1 0.407407407 ENSG00000011478 chr19:45702921-45702921;C/G missense_variant False QPCTL@p.P363T 1 0.179310345 ENSG00000011478 chr19:45702987-45702987;C/A missense_variant False QPCTL@p.R287H 1 0.390909091 ENSG00000011478 chr19:45698874-45698874;G/A missense_variant False QPRT@p.R86K 1 0.5 ENSG00000103485 chr16:29694907-29694907;G/A missense_variant False QPRT@p.R86T 1 0.641791045 ENSG00000103485 chr16:29694907-29694907;G/C missense_variant False QPRT@p.S42L 1 0.190909091 ENSG00000103485 chr16:29694775-29694775;C/T missense_variant False QPRT@p.V219I 1 0.121212121 ENSG00000103485 chr16:29697101-29697101;G/A missense_variant False PXDNL@p.P852L 1 0.12 ENSG00000147485 chr8:51409069-51409069;G/A missense_variant False PXDNL@p.H399Y 1 0.15 ENSG00000147485 chr8:51453573-51453573;G/A missense_variant False PTPRT@p.E1118A 1 0.278571429 ENSG00000196090 chr20:42106823-42106823;T/G missense_variant False PUDP@p.S125G 1 0.9 ENSG00000130021 chrX:7077357-7077357;T/C missense_variant False PUM1@p.G728R 1 0.092592593 ENSG00000134644 chr1:30964815-30964815;C/T missense_variant False PUM1@p.G43W 1 0.183908046 ENSG00000134644 chr1:31059440-31059440;C/A missense_variant False PUM1@p.E952K 1 0.186046512 ENSG00000134644 chr1:30945480-30945480;C/T missense_variant False PUM1@p.A571V 1 0.078125 ENSG00000134644 chr1:30967244-30967244;G/A missense_variant False PUF60@p.Y177C 1 0.591836735 ENSG00000179950 chr8:143818266-143818266;T/C missense_variant False PUF60@p.F225L 1 0.170212766 ENSG00000179950 chr8:143818004-143818004;G/C missense_variant False PTX3@p.R349K 1 0.775862069 ENSG00000163661 chr3:157442879-157442879;G/A missense_variant False PTPRZ1@p.V803I 1 0.425465839 ENSG00000106278 chr7:122011453-122011453;G/A missense_variant False PTX3@p.N275S 1 0.096 ENSG00000163661 chr3:157442657-157442657;A/G missense_variant False PTX3@p.L343F 1 0.433333333 ENSG00000163661 chr3:157442860-157442860;C/T missense_variant False PTX3@p.E235G 1 0.484126984 ENSG00000163661 chr3:157442537-157442537;A/G missense_variant False PTTG1IP@p.K169N 1 0.107692308 ENSG00000183255 chr21:44851617-44851617;T/A missense_variant False PTTG1@p.S102N 1 0.344086022 ENSG00000164611 chr5:160424265-160424265;G/A missense_variant False PTRH2@p.M67I 1 0.26618705 ENSG00000141378 chr17:59697778-59697778;C/T missense_variant False PUM1@p.Q196E 1 0.204081633 ENSG00000134644 chr1:31005987-31005987;G/C missense_variant False PUM1@p.Q939H 1 0.222222222 ENSG00000134644 chr1:30950166-30950166;C/G missense_variant False PUM1@p.S305C 1 0.286666667 ENSG00000134644 chr1:30992634-30992634;G/C missense_variant False PUM1@p.V954F 1 0.563636364 ENSG00000134644 chr1:30945474-30945474;C/A missense_variant False PUM2@p.A388D 1 0.197368421 ENSG00000055917 chr2:20290780-20290780;G/T missense_variant False PUM2@p.D141Y 1 0.18018018 ENSG00000055917 chr2:20311591-20311591;C/A missense_variant False PUM2@p.D152Y 1 0.336633663 ENSG00000055917 chr2:20311558-20311558;C/A missense_variant False PUM2@p.E233Q 1 0.132183908 ENSG00000055917 chr2:20308406-20308406;C/G missense_variant False PUM2@p.G254R 1 0.837662338 ENSG00000055917 chr2:20308343-20308343;C/G missense_variant False PUM2@p.H881P 1 0.357142857 ENSG00000055917 chr2:20255322-20255322;T/G missense_variant False PUM2@p.L203V 1 0.170212766 ENSG00000055917 chr2:20308496-20308496;G/C missense_variant False PUM2@p.P619A 1 0.107142857 ENSG00000055917 chr2:20278685-20278685;G/C missense_variant False PUM3@p.G11E 1 0.325 ENSG00000080608 chr9:2838476-2838476;C/T missense_variant False PUM3@p.G45E 1 0.186813187 ENSG00000080608 chr9:2837350-2837350;C/T missense_variant False PUM3@p.K69N 1 0.55952381 ENSG00000080608 chr9:2837277-2837277;C/G missense_variant False PUM3@p.R146K 1 1.0 ENSG00000080608 chr9:2834034-2834034;C/T missense_variant False PURA@p.E293K 1 0.41025641 ENSG00000185129 chr5:140115058-140115058;G/A missense_variant False PTRH1@p.E186K 1 0.277777778 ENSG00000187024 chr9:127714189-127714189;C/T missense_variant False PTPRZ1@p.T593I 1 0.367346939 ENSG00000106278 chr7:122010824-122010824;C/T missense_variant False PURA@p.R164C 1 0.282608696 ENSG00000185129 chr5:140114671-140114671;C/T missense_variant False PTPRU@p.A1392V 1 0.102803738 ENSG00000060656 chr1:29325223-29325223;C/T missense_variant False PTPRU@p.Q204H 1 0.153846154 ENSG00000060656 chr1:29259501-29259501;G/C missense_variant False PTPRU@p.F1066Y 1 0.444444444 ENSG00000060656 chr1:29312646-29312646;T/A missense_variant False PTPRU@p.E697Q 1 0.393258427 ENSG00000060656 chr1:29282896-29282896;G/C missense_variant False PTPRU@p.E632K 1 0.266666667 ENSG00000060656 chr1:29282701-29282701;G/A missense_variant False PTPRU@p.D1365N 1 0.0625 ENSG00000060656 chr1:29323739-29323739;G/A missense_variant False PTPRU@p.D1011H 1 0.326241135 ENSG00000060656 chr1:29311688-29311688;G/C missense_variant False PTPRT@p.V142I 1 0.375 ENSG00000196090 chr20:42791257-42791257;C/T missense_variant False PTPRZ1@p.S499C 1 0.258064516 ENSG00000106278 chr7:122010542-122010542;C/G missense_variant False PTPRT@p.R1123T 1 0.531034483 ENSG00000196090 chr20:42106808-42106808;C/G missense_variant False PTPRT@p.P376S 1 0.395604396 ENSG00000196090 chr20:42677893-42677893;G/A missense_variant False PTPRT@p.H187Y 1 0.433070866 ENSG00000196090 chr20:42780227-42780227;G/A missense_variant False PTPRT@p.G799R 1 0.102625298 ENSG00000196090 chr20:42199336-42199336;C/G missense_variant False PTPRT@p.E857D 1 0.327160494 ENSG00000196090 chr20:42161463-42161463;C/G missense_variant False PTPRT@p.E61D 1 0.085106383 ENSG00000196090 chr20:42885838-42885838;C/A missense_variant False PTPRU@p.S167C 1 0.153846154 ENSG00000060656 chr1:29259283-29259283;C/G missense_variant False PTPRU@p.Y795Rfs*6 1 0.260869565 ENSG00000060656 chr1:29291902-29291908;CTACCGC/- frameshift_variant False PTPRZ1@p.A22V 1 0.264367816 ENSG00000106278 chr7:121928162-121928162;C/T missense_variant False PTPRZ1@p.D852N 1 0.111111111 ENSG00000106278 chr7:122011600-122011600;G/A missense_variant False PTPRZ1@p.E1233K 1 0.242424242 ENSG00000106278 chr7:122012743-122012743;G/A missense_variant False PTPRZ1@p.E1809K 1 0.304347826 ENSG00000106278 chr7:122038812-122038812;G/A missense_variant False PTPRZ1@p.E612K 1 0.263157895 ENSG00000106278 chr7:122010880-122010880;G/A missense_variant False PTPRZ1@p.E68K 1 0.120967742 ENSG00000106278 chr7:121968028-121968028;G/A missense_variant False PTPRZ1@p.G1049E 1 0.192307692 ENSG00000106278 chr7:122012192-122012192;G/A missense_variant False PTPRZ1@p.H1105D 1 0.470198675 ENSG00000106278 chr7:122012359-122012359;C/G missense_variant False PTPRZ1@p.I969L 1 0.581395349 ENSG00000106278 chr7:122011951-122011951;A/T missense_variant False PTPRZ1@p.P1200L 1 0.225663717 ENSG00000106278 chr7:122012645-122012645;C/T missense_variant False PTPRZ1@p.P1212L 1 0.102272727 ENSG00000106278 chr7:122012681-122012681;C/T missense_variant False PTPRZ1@p.Q12E 1 0.25 ENSG00000106278 chr7:121873533-121873533;C/G missense_variant False PTPRZ1@p.R2286S 1 0.4375 ENSG00000106278 chr7:122061130-122061130;G/T missense_variant False PTPRZ1@p.S1093F 1 0.153061224 ENSG00000106278 chr7:122012324-122012324;C/T missense_variant False PTPRZ1@p.S1451Yfs*5 1 0.315068493 ENSG00000106278 chr7:122013398-122013398;C/- frameshift_variant False PURA@p.F243C 1 0.420289855 ENSG00000185129 chr5:140114909-140114909;T/G missense_variant False PURB@p.E292K 1 0.296703297 ENSG00000146676 chr7:44884475-44884475;C/T missense_variant False PXDNL@p.G872D 1 0.297297297 ENSG00000147485 chr8:51409009-51409009;C/T missense_variant False PWWP3A@p.G102D 1 0.423913043 ENSG00000160953 chr19:1360223-1360223;G/A missense_variant False PWWP3B@p.S276L 1 0.173913043 ENSG00000157502 chrX:106206259-106206259;C/T missense_variant False PWWP3B@p.R380C 1 0.333333333 ENSG00000157502 chrX:106206570-106206570;C/T missense_variant False PWWP3B@p.P79A 1 0.947368421 ENSG00000157502 chrX:106205667-106205667;C/G missense_variant False PWWP3A@p.S28A 1 0.314285714 ENSG00000160953 chr19:1357030-1357030;T/G missense_variant False PWWP3A@p.S236L 1 0.305263158 ENSG00000160953 chr19:1360625-1360625;C/T missense_variant False PWWP3A@p.K584R 1 0.5 ENSG00000160953 chr19:1370840-1370840;A/G missense_variant False PWWP3A@p.E202D 1 0.37037037 ENSG00000160953 chr19:1360524-1360524;G/C missense_variant False PWWP2A@p.E129K 1 0.237288136 ENSG00000170234 chr5:160119004-160119004;C/T missense_variant False PWWP2B@p.P94R 1 0.333333333 ENSG00000171813 chr10:132404781-132404781;C/G missense_variant False PWWP2B@p.K254N 1 0.317073171 ENSG00000171813 chr10:132405262-132405262;G/T missense_variant False PWWP2B@p.G519R 1 0.162162162 ENSG00000171813 chr10:132406055-132406055;G/A missense_variant False PWWP2B@p.E549K 1 0.278688525 ENSG00000171813 chr10:132406145-132406145;G/A missense_variant False PWWP2B@p.E235K 1 0.25 ENSG00000171813 chr10:132405203-132405203;G/A missense_variant False PWWP2A@p.S346P 1 0.214285714 ENSG00000170234 chr5:160093614-160093614;A/G missense_variant False PXDC1@p.E195Q 1 0.274193548 ENSG00000168994 chr6:3723732-3723732;C/G missense_variant False PXDN@p.A1024E 1 1.0 ENSG00000130508 chr2:1648709-1648709;G/T missense_variant False PXDN@p.E1196K 1 0.144927536 ENSG00000130508 chr2:1648194-1648194;C/T missense_variant False PXDN@p.E309K 1 0.540983607 ENSG00000130508 chr2:1673736-1673736;C/T missense_variant False PXDN@p.G1123R 1 1.0 ENSG00000130508 chr2:1648413-1648413;C/T missense_variant False PXDN@p.I717M 1 0.376237624 ENSG00000130508 chr2:1649629-1649629;G/C missense_variant False PXDN@p.L797Rfs*17 1 0.329268293 ENSG00000130508 chr2:1649375-1649390;AGGGTGGTGGACACCA/- frameshift_variant False PXDN@p.N715K 1 0.452380952 ENSG00000130508 chr2:1649635-1649635;G/T missense_variant False PXDN@p.R1107P 1 0.365853659 ENSG00000130508 chr2:1648460-1648460;C/G missense_variant False PXDN@p.R1107W 1 0.147058824 ENSG00000130508 chr2:1648461-1648461;G/A missense_variant False PXDN@p.R1198W 1 0.08490566 ENSG00000130508 chr2:1648188-1648188;G/A missense_variant False PXDNL@p.A1138T 1 0.065502183 ENSG00000147485 chr8:51408212-51408212;C/T missense_variant False PXDNL@p.A850T 1 0.166666667 ENSG00000147485 chr8:51409076-51409076;C/T missense_variant False PXDNL@p.A945T 1 0.387096774 ENSG00000147485 chr8:51408791-51408791;C/T missense_variant False PXDNL@p.D1136N 1 0.396946565 ENSG00000147485 chr8:51408218-51408218;C/T missense_variant False PXDNL@p.D731N 1 0.193548387 ENSG00000147485 chr8:51409433-51409433;C/T missense_variant False PXDNL@p.G1261S 1 0.423076923 ENSG00000147485 chr8:51371993-51371993;C/T missense_variant False PWWP2A@p.P202L 1 0.117647059 ENSG00000170234 chr5:160094045-160094045;G/A missense_variant False PWP1@p.S436F 1 0.172839506 ENSG00000136045 chr12:107710421-107710421;C/T missense_variant False PURB@p.G212E 1 0.273972603 ENSG00000146676 chr7:44884714-44884714;C/T missense_variant False PUS10@p.D428H 1 0.253968254 ENSG00000162927 chr2:60953023-60953023;C/G missense_variant False PUS3@p.A176S 1 0.548780488 ENSG00000110060 chr11:125895642-125895642;C/A missense_variant False PUS1@p.R6C 1 0.133333333 ENSG00000177192 chr12:131929738-131929738;C/T missense_variant False PUS1@p.R195T 1 0.341880342 ENSG00000177192 chr12:131941331-131941331;G/C missense_variant False PUS10@p.E88Q 1 0.125 ENSG00000162927 chr2:61008880-61008880;C/G missense_variant False PUS10@p.E47K 1 0.444444444 ENSG00000162927 chr2:61009003-61009003;C/T missense_variant False PUS10@p.E221K 1 0.321637427 ENSG00000162927 chr2:60965439-60965439;C/T missense_variant False PUS10@p.A284Sfs*11 1 0.117073171 ENSG00000162927 chr2:60961487-60961488;CA/- frameshift_variant False PWP1@p.L118V 1 0.233333333 ENSG00000136045 chr12:107692846-107692846;C/G missense_variant False PURG@p.M229I 1 0.099378882 ENSG00000172733 chr8:31032096-31032096;C/T missense_variant False PURG@p.E89K 1 0.372093023 ENSG00000172733 chr8:31032518-31032518;C/T missense_variant False PURB@p.R293L 1 0.22173913 ENSG00000146676 chr7:44884471-44884471;C/A missense_variant False PURB@p.Q52H 1 0.147058824 ENSG00000146676 chr7:44885193-44885193;C/G missense_variant False PURB@p.P261R 1 0.401869159 ENSG00000146676 chr7:44884567-44884567;G/C missense_variant False PURB@p.K188R 1 0.384615385 ENSG00000146676 chr7:44884786-44884786;T/C missense_variant False PUS3@p.P179L 1 0.483516484 ENSG00000110060 chr11:125895632-125895632;G/A missense_variant False PUS7@p.E99D 1 0.154761905 ENSG00000091127 chr7:105508216-105508216;C/G missense_variant False PUS7@p.L320F 1 0.055555556 ENSG00000091127 chr7:105482401-105482401;C/G missense_variant False PUS7@p.R661C 1 0.165137615 ENSG00000091127 chr7:105457795-105457795;G/A missense_variant False PUS7@p.V114I 1 0.284090909 ENSG00000091127 chr7:105508173-105508173;C/T missense_variant False PUS7L@p.P184S 1 0.225352113 ENSG00000129317 chr12:43754696-43754696;G/A missense_variant False PUS7L@p.Q386E 1 0.2 ENSG00000129317 chr12:43746153-43746153;G/C missense_variant False PUS7L@p.V197E 1 0.298076923 ENSG00000129317 chr12:43754656-43754656;A/T missense_variant False PUS7L@p.Y221H 1 0.404255319 ENSG00000129317 chr12:43754585-43754585;A/G missense_variant False PUSL1@p.R111W 1 0.583333333 ENSG00000169972 chr1:1309461-1309461;C/T missense_variant False PVALB@p.E109K 1 0.714285714 ENSG00000100362 chr22:36800898-36800898;C/T missense_variant False PVALB@p.E60Q 1 0.75 ENSG00000100362 chr22:36815119-36815119;C/G missense_variant False PVR@p.E245Q 1 0.31512605 ENSG00000073008 chr19:44653908-44653908;G/C missense_variant False PVR@p.E386Q 1 0.547368421 ENSG00000073008 chr19:44661297-44661297;G/C missense_variant False PVR@p.G158A 1 0.539568345 ENSG00000073008 chr19:44649854-44649854;G/C missense_variant False PVR@p.G258D 1 0.56097561 ENSG00000073008 chr19:44653948-44653948;G/A missense_variant False PWP1@p.D105N 1 0.157894737 ENSG00000136045 chr12:107688796-107688796;G/A missense_variant False RAPH1@p.S105L 1 0.214285714 ENSG00000173166 chr2:203490002-203490002;G/A missense_variant False RAPH1@p.Y426F 1 0.520710059 ENSG00000173166 chr2:203455462-203455462;T/A missense_variant False RICTOR@p.E1675Q 1 0.666666667 ENSG00000164327 chr5:38942862-38942862;C/G missense_variant False RETREG2@p.P518L 1 0.272727273 ENSG00000144567 chr2:219182550-219182550;C/T missense_variant False RETSAT@p.S499L 1 0.057971014 ENSG00000042445 chr2:85344036-85344036;G/A missense_variant False RETSAT@p.R293Q 1 0.419642857 ENSG00000042445 chr2:85349503-85349503;C/T missense_variant False RETSAT@p.L561H 1 0.387096774 ENSG00000042445 chr2:85343650-85343650;A/T missense_variant False RETSAT@p.L438V 1 0.125 ENSG00000042445 chr2:85344293-85344293;G/C missense_variant False RETREG3@p.S463C 1 0.314814815 ENSG00000141699 chr17:42581826-42581826;G/C missense_variant False RETREG2@p.R123S 1 0.607734807 ENSG00000144567 chr2:219179007-219179007;C/A missense_variant False RETREG2@p.E485Q 1 0.255813953 ENSG00000144567 chr2:219182450-219182450;G/C missense_variant False REV1@p.D1167H 1 0.197368421 ENSG00000135945 chr2:99402686-99402686;C/G missense_variant False RETREG2@p.E484Q 1 0.263888889 ENSG00000144567 chr2:219182447-219182447;G/C missense_variant False RETREG2@p.E156K 1 0.398550725 ENSG00000144567 chr2:219180156-219180156;G/A missense_variant False RETREG2@p.D496H 1 0.188888889 ENSG00000144567 chr2:219182483-219182483;G/C missense_variant False RETREG2@p.D335N 1 0.193277311 ENSG00000144567 chr2:219181763-219181763;G/A missense_variant False RETREG1@p.Q438E 1 0.246753247 ENSG00000154153 chr5:16474923-16474923;G/C missense_variant False RETREG1@p.I442Hfs*9 1 0.113207547 ENSG00000154153 chr5:16474911-16474912;-/G frameshift_variant False RETSAT@p.T46I 1 0.443850267 ENSG00000042445 chr2:85354371-85354371;G/A missense_variant False REV1@p.D1234H 1 0.275362319 ENSG00000135945 chr2:99401297-99401297;C/G missense_variant False RAPSN@p.E180K 1 0.35 ENSG00000165917 chr11:47442808-47442808;C/T missense_variant False REV3L@p.D2882H 1 0.255813953 ENSG00000009413 chr6:111311220-111311220;C/G missense_variant False REV3L@p.L1113F 1 0.378378378 ENSG00000009413 chr6:111375018-111375018;G/A missense_variant False REV3L@p.K3087N 1 0.487804878 ENSG00000009413 chr6:111300148-111300148;C/G missense_variant False REV3L@p.I219T 1 0.711864407 ENSG00000009413 chr6:111392882-111392882;A/G missense_variant False REV3L@p.E781K 1 0.423728814 ENSG00000009413 chr6:111376014-111376014;C/T missense_variant False REV3L@p.E1729Q 1 0.238095238 ENSG00000009413 chr6:111373170-111373170;C/G missense_variant False REV3L@p.E1216Q 1 0.176470588 ENSG00000009413 chr6:111374709-111374709;C/G missense_variant False REV3L@p.D2718N 1 0.489361702 ENSG00000009413 chr6:111329621-111329621;C/T missense_variant False REV1@p.L615F 1 0.619047619 ENSG00000135945 chr2:99418936-99418936;G/A missense_variant False REV3L@p.A764D 1 0.85 ENSG00000009413 chr6:111376064-111376064;G/T missense_variant False REV1@p.S45L 1 0.324786325 ENSG00000135945 chr2:99462543-99462543;G/A missense_variant False REV1@p.R414T 1 0.247368421 ENSG00000135945 chr2:99435914-99435914;C/G missense_variant False REV1@p.R284G 1 0.254237288 ENSG00000135945 chr2:99438964-99438964;T/C missense_variant False REV1@p.P948L 1 0.549295775 ENSG00000135945 chr2:99404646-99404646;G/A missense_variant False REV1@p.N1166S 1 0.371794872 ENSG00000135945 chr2:99402688-99402688;T/C missense_variant False RETREG1@p.G256E 1 0.148648649 ENSG00000154153 chr5:16478891-16478891;C/T missense_variant False RET@p.V245A 1 0.136363636 ENSG00000165731 chr10:43105060-43105060;T/C missense_variant True RET@p.N1059D 1 0.117021277 ENSG00000165731 chr10:43126710-43126710;A/G missense_variant True RERG@p.D123N 1 0.149484536 ENSG00000134533 chr12:15109343-15109343;C/T missense_variant False RESF1@p.D888H 1 0.405940594 ENSG00000174718 chr12:31983617-31983617;G/C missense_variant False RESF1@p.D1384* 1 0.133333333 ENSG00000174718 chr12:31985102-31985103;-/TA frameshift_variant False RESF1@p.D1243N 1 0.304878049 ENSG00000174718 chr12:31984682-31984682;G/A missense_variant False RERGL@p.S91L 1 0.183908046 ENSG00000111404 chr12:18084580-18084580;G/A missense_variant False RERGL@p.I194M 1 0.09375 ENSG00000111404 chr12:18081227-18081227;G/C missense_variant False RERG@p.K99N 1 0.034042553 ENSG00000134533 chr12:15109413-15109413;C/G missense_variant False RERE@p.S211C 1 0.065088757 ENSG00000142599 chr1:8556568-8556568;G/C missense_variant False RET@p.F998L 1 0.576271186 ENSG00000165731 chr10:43124935-43124935;T/C missense_variant True RERE@p.Q1528H 1 0.063829787 ENSG00000142599 chr1:8355502-8355502;C/G missense_variant False RERE@p.P1424A 1 0.217391304 ENSG00000142599 chr1:8358265-8358265;G/C missense_variant False RERE@p.M959I 1 0.184210526 ENSG00000142599 chr1:8360630-8360630;C/T missense_variant False RERE@p.F250V 1 0.485915493 ENSG00000142599 chr1:8541296-8541296;A/C missense_variant False RERE@p.E562Q 1 0.145833333 ENSG00000142599 chr1:8364112-8364112;C/G missense_variant False RERE@p.E1328K 1 0.655172414 ENSG00000142599 chr1:8358553-8358553;C/T missense_variant False RESF1@p.G1670A 1 0.227272727 ENSG00000174718 chr12:31987245-31987245;G/C missense_variant False RESF1@p.H1300* 1 0.202898551 ENSG00000174718 chr12:31984853-31984878;CACGAGGTAACCTTTCACTCCAGTAA/- frameshift_variant False RESF1@p.Q103H 1 0.245614035 ENSG00000174718 chr12:31981264-31981264;A/T missense_variant False RESF1@p.Q37E 1 0.161073826 ENSG00000174718 chr12:31981064-31981064;C/G missense_variant False RESF1@p.R1442K 1 0.24137931 ENSG00000174718 chr12:31985280-31985280;G/A missense_variant False RESF1@p.R467T 1 0.335365854 ENSG00000174718 chr12:31982355-31982355;G/C missense_variant False RESF1@p.S408L 1 0.043956044 ENSG00000174718 chr12:31982178-31982178;C/T missense_variant False RESF1@p.S527L 1 0.179487179 ENSG00000174718 chr12:31982535-31982535;C/T missense_variant False REST@p.D210N 1 0.378378378 ENSG00000084093 chr4:56911266-56911266;G/A missense_variant False REST@p.N963H 1 0.493150685 ENSG00000084093 chr4:56931745-56931745;A/C missense_variant False REST@p.R324C 1 0.233333333 ENSG00000084093 chr4:56919858-56919858;C/T missense_variant False REST@p.T257A 1 0.534883721 ENSG00000084093 chr4:56911407-56911407;A/G missense_variant False RET@p.A999E 1 0.255102041 ENSG00000165731 chr10:43124939-43124939;C/A missense_variant True RET@p.D1081H 1 0.328125 ENSG00000165731 chr10:43128165-43128165;G/C missense_variant True RET@p.E337K 1 0.35483871 ENSG00000165731 chr10:43106517-43106517;G/A missense_variant True RET@p.E673K 1 0.227848101 ENSG00000165731 chr10:43114617-43114617;G/A missense_variant True RET@p.E884K 1 0.211538462 ENSG00000165731 chr10:43120123-43120123;G/A missense_variant True REV3L@p.P1125A 1 0.213333333 ENSG00000009413 chr6:111374982-111374982;G/C missense_variant False REV3L@p.Q1654H 1 0.209302326 ENSG00000009413 chr6:111373393-111373393;C/G missense_variant False REV3L@p.R1587I 1 0.204545455 ENSG00000009413 chr6:111373595-111373595;C/A missense_variant False RFC4@p.Q305E 1 0.06097561 ENSG00000163918 chr3:186790225-186790225;G/C missense_variant False RFC5@p.S296L 1 0.117647059 ENSG00000111445 chr12:118029786-118029786;C/T missense_variant False RFC5@p.Q257E 1 0.263157895 ENSG00000111445 chr12:118026994-118026994;C/G missense_variant False RFC4@p.S320F 1 0.390625 ENSG00000163918 chr3:186790179-186790179;G/A missense_variant False RFC4@p.S285C 1 0.348314607 ENSG00000163918 chr3:186790354-186790354;G/C missense_variant False RFC4@p.S157L 1 0.123809524 ENSG00000163918 chr3:186792888-186792888;G/A missense_variant False RFC4@p.R135H 1 0.186666667 ENSG00000163918 chr3:186794664-186794664;C/T missense_variant False RFC4@p.N362S 1 0.259259259 ENSG00000163918 chr3:186789976-186789976;T/C missense_variant False RFC1@p.Q773E 1 0.243243243 ENSG00000035928 chr4:39302763-39302763;G/C missense_variant False RFC4@p.D298H 1 0.157303371 ENSG00000163918 chr3:186790246-186790246;C/G missense_variant False RFC4@p.D112N 1 0.138211382 ENSG00000163918 chr3:186794734-186794734;C/T missense_variant False RFC2@p.R59T 1 0.211111111 ENSG00000049541 chr7:74252436-74252436;C/G missense_variant False RFC2@p.P78S 1 0.789473684 ENSG00000049541 chr7:74249112-74249112;G/A missense_variant False RFC2@p.L87V 1 0.207317073 ENSG00000049541 chr7:74249085-74249085;G/C missense_variant False RFC2@p.G339S 1 0.25 ENSG00000049541 chr7:74232156-74232156;C/T missense_variant False RFC5@p.S324C 1 0.2 ENSG00000111445 chr12:118031226-118031226;C/G missense_variant False RFFL@p.L241V 1 0.1328125 ENSG00000092871 chr17:35016535-35016535;G/C missense_variant False RFK@p.D141N 1 0.391304348 ENSG00000135002 chr9:76387446-76387446;C/T missense_variant False RFLNA@p.I170M 1 0.4 ENSG00000178882 chr12:124314384-124314384;C/G missense_variant False RFLNB@p.S38F 1 0.183333333 ENSG00000183688 chr17:443486-443486;G/A missense_variant False RFPL1@p.L47V 1 0.153846154 ENSG00000128250 chr22:29438930-29438930;C/G missense_variant False RFPL2@p.E323Q 1 0.220338983 ENSG00000128253 chr22:32190942-32190942;C/G missense_variant False RFPL2@p.L160Q 1 0.302325581 ENSG00000128253 chr22:32192979-32192979;A/T missense_variant False RFPL2@p.L220P 1 0.522727273 ENSG00000128253 chr22:32191250-32191250;A/G missense_variant False RFPL2@p.L58H 1 0.3 ENSG00000128253 chr22:32194437-32194437;A/T missense_variant False RFPL4B@p.F245L 1 0.593220339 ENSG00000251258 chr6:112350443-112350443;C/G missense_variant False RFPL4B@p.L215Pfs*4 1 0.25 ENSG00000251258 chr6:112350349-112350359;ACTTAGAAGAA/- frameshift_variant False RFPL4B@p.R79Q 1 0.5625 ENSG00000251258 chr6:112349944-112349944;G/A missense_variant False RFT1@p.E400K 1 0.213333333 ENSG00000163933 chr3:53099391-53099391;C/T missense_variant False RFTN1@p.D563N 1 0.319444444 ENSG00000131378 chr3:16316878-16316878;C/T missense_variant False RFTN1@p.E143Q 1 0.164705882 ENSG00000131378 chr3:16409389-16409389;C/G missense_variant False RFTN1@p.I106M 1 0.087227414 ENSG00000131378 chr3:16433865-16433865;G/C missense_variant False RFC1@p.R992S 1 0.306666667 ENSG00000035928 chr4:39291834-39291834;C/A missense_variant False RFC1@p.P1074A 1 0.265402844 ENSG00000035928 chr4:39289991-39289991;G/C missense_variant False REV3L@p.R2697T 1 0.516129032 ENSG00000009413 chr6:111329683-111329683;C/G missense_variant False REXO1@p.E1049K 1 0.380952381 ENSG00000079313 chr19:1817275-1817275;C/T missense_variant False REXO1@p.S184F 1 0.153846154 ENSG00000079313 chr19:1828238-1828238;G/A missense_variant False REXO1@p.R120C 1 0.294117647 ENSG00000079313 chr19:1828431-1828431;G/A missense_variant False REXO1@p.P203T 1 0.161290323 ENSG00000079313 chr19:1828182-1828182;G/T missense_variant False REXO1@p.L655V 1 0.231481481 ENSG00000079313 chr19:1825892-1825892;G/C missense_variant False REXO1@p.H1057Y 1 0.428571429 ENSG00000079313 chr19:1817251-1817251;G/A missense_variant False REXO1@p.F958C 1 0.357142857 ENSG00000079313 chr19:1818735-1818735;A/C missense_variant False REV3L@p.Y2779C 1 0.2 ENSG00000009413 chr6:111322584-111322584;T/C missense_variant False RFC1@p.K374N 1 0.326530612 ENSG00000035928 chr4:39316996-39316996;C/G missense_variant False REV3L@p.T1167S 1 0.46 ENSG00000009413 chr6:111374855-111374855;G/C missense_variant False REV3L@p.S721C 1 0.866666667 ENSG00000009413 chr6:111376193-111376193;G/C missense_variant False REV3L@p.S706Y 1 0.6 ENSG00000009413 chr6:111376238-111376238;G/T missense_variant False REV3L@p.S1761C 1 0.261744966 ENSG00000009413 chr6:111373073-111373073;G/C missense_variant False REV3L@p.R2914T 1 0.111702128 ENSG00000009413 chr6:111311123-111311123;C/G missense_variant False REV3L@p.R2757K 1 0.177083333 ENSG00000009413 chr6:111322650-111322650;C/T missense_variant False REXO1@p.V206M 1 0.416666667 ENSG00000079313 chr19:1828173-1828173;C/T missense_variant False REXO2@p.K108Q 1 0.333333333 ENSG00000076043 chr11:114444553-114444553;A/C missense_variant False REXO2@p.K216Q 1 0.211538462 ENSG00000076043 chr11:114449907-114449907;A/C missense_variant False REXO4@p.K177N 1 0.23943662 ENSG00000148300 chr9:133414706-133414706;C/A missense_variant False REXO4@p.N31Kfs*126 1 0.251028807 ENSG00000148300 chr9:133417752-133417753;-/T frameshift_variant False REXO4@p.P298T 1 0.218934911 ENSG00000148300 chr9:133412317-133412317;G/T missense_variant False REXO5@p.A223T 1 0.125 ENSG00000005189 chr16:20824489-20824489;G/A missense_variant False REXO5@p.E265K 1 0.25 ENSG00000005189 chr16:20825920-20825920;G/A missense_variant False REXO5@p.E444K 1 0.428571429 ENSG00000005189 chr16:20833070-20833070;G/A missense_variant False REXO5@p.I741M 1 0.2 ENSG00000005189 chr16:20846319-20846319;C/G missense_variant False REXO5@p.K716N 1 0.203125 ENSG00000005189 chr16:20846244-20846244;G/C missense_variant False REXO5@p.Q294H 1 0.121212121 ENSG00000005189 chr16:20827118-20827118;G/C missense_variant False REXO5@p.S447C 1 0.428571429 ENSG00000005189 chr16:20833080-20833080;C/G missense_variant False RFC1@p.D1135H 1 0.233766234 ENSG00000035928 chr4:39288805-39288805;C/G missense_variant False RFC1@p.G1143R 1 0.405797101 ENSG00000035928 chr4:39288781-39288781;C/T missense_variant False RFC1@p.H757Y 1 0.214285714 ENSG00000035928 chr4:39302811-39302811;G/A missense_variant False RFC1@p.I1120M 1 0.066666667 ENSG00000035928 chr4:39289851-39289851;G/C missense_variant False RERE@p.E1173Q 1 0.31147541 ENSG00000142599 chr1:8359865-8359865;C/G missense_variant False RERE@p.E1168K 1 0.080808081 ENSG00000142599 chr1:8359880-8359880;C/T missense_variant False RERE@p.E1102Q 1 0.555555556 ENSG00000142599 chr1:8360203-8360203;C/G missense_variant False REG1A@p.A128V 1 0.358490566 ENSG00000115386 chr2:79122902-79122902;C/T missense_variant False REG1B@p.E80K 1 0.394230769 ENSG00000172023 chr2:79086450-79086450;C/T missense_variant False REG1A@p.M15I 1 0.410714286 ENSG00000115386 chr2:79120906-79120906;G/A missense_variant False REG1A@p.H103Y 1 0.102272727 ENSG00000115386 chr2:79122111-79122111;C/T missense_variant False REG1A@p.D104N 1 0.25862069 ENSG00000115386 chr2:79122114-79122114;G/A missense_variant False REG1A@p.C137Y 1 0.376811594 ENSG00000115386 chr2:79122929-79122929;G/A missense_variant False REG1A@p.A2S 1 0.111111111 ENSG00000115386 chr2:79120865-79120865;G/T missense_variant False REEP6@p.T170I 1 0.245901639 ENSG00000115255 chr19:1496445-1496445;C/T missense_variant False RECQL@p.S518F 1 0.087912088 ENSG00000004700 chr12:21471542-21471542;G/A missense_variant False REEP5@p.K186R 1 0.733333333 ENSG00000129625 chr5:112878799-112878799;T/C missense_variant False REEP5@p.E185K 1 0.208333333 ENSG00000129625 chr5:112878803-112878803;C/T missense_variant False REEP4@p.F62L 1 0.4 ENSG00000168476 chr8:22140080-22140080;G/C missense_variant False REEP3@p.I107V 1 0.317073171 ENSG00000165476 chr10:63599185-63599185;A/G missense_variant False REEP2@p.R147H 1 0.069444444 ENSG00000132563 chr5:138445256-138445256;G/A missense_variant False REEP2@p.D56N 1 0.326530612 ENSG00000132563 chr5:138441445-138441445;G/A missense_variant False REG1B@p.K147N 1 0.333333333 ENSG00000172023 chr2:79085276-79085276;C/G missense_variant False REG1B@p.L19V 1 0.222222222 ENSG00000172023 chr2:79087558-79087558;G/C missense_variant False REG1B@p.W124L 1 0.470588235 ENSG00000172023 chr2:79085554-79085554;C/A missense_variant False REG3A@p.G43V 1 0.944444444 ENSG00000172016 chr2:79158718-79158718;C/A missense_variant False REG3G@p.D160Y 1 0.285714286 ENSG00000143954 chr2:79028226-79028226;G/T missense_variant False REG3G@p.M128I 1 0.206896552 ENSG00000143954 chr2:79027857-79027857;G/A missense_variant False REL@p.A405V 1 0.285714286 ENSG00000162924 chr2:60921889-60921889;C/T missense_variant False REL@p.D487N 1 0.340425532 ENSG00000162924 chr2:60922134-60922134;G/A missense_variant False REL@p.E385K 1 0.08 ENSG00000162924 chr2:60921828-60921828;G/A missense_variant False REL@p.M499I 1 0.274725275 ENSG00000162924 chr2:60922172-60922172;G/A missense_variant False REL@p.M574I 1 0.315789474 ENSG00000162924 chr2:60922397-60922397;G/A missense_variant False REL@p.R358T 1 0.505747126 ENSG00000162924 chr2:60920628-60920628;G/C missense_variant False REL@p.V236Hfs*10 1 0.307692308 ENSG00000162924 chr2:60918457-60918493;ATGTACACCGTCAAGTAGCCATTGTTTTCAAAACTCC/- frameshift_variant False RELA@p.E211Q 1 0.238636364 ENSG00000173039 chr11:65658751-65658751;C/G missense_variant False RELA@p.F309L 1 0.252336449 ENSG00000173039 chr11:65655886-65655886;G/C missense_variant False RELA@p.P140L 1 0.345454545 ENSG00000173039 chr11:65660132-65660132;G/A missense_variant False RELA@p.S529L 1 0.289156627 ENSG00000173039 chr11:65654448-65654448;G/A missense_variant False RECQL@p.Y208F 1 0.174603175 ENSG00000004700 chr12:21483453-21483453;T/A missense_variant False RECQL@p.R539G 1 0.165714286 ENSG00000004700 chr12:21471480-21471480;G/C missense_variant False RELB@p.R209K 1 0.395833333 ENSG00000104856 chr19:45022174-45022174;G/A missense_variant False REC8@p.R379Q 1 0.062222222 ENSG00000100918 chr14:24178849-24178849;G/A missense_variant False RECK@p.R427G 1 0.421052632 ENSG00000122707 chr9:36100524-36100524;C/G missense_variant False RECK@p.R114Q 1 0.395833333 ENSG00000122707 chr9:36063864-36063864;G/A missense_variant False RECK@p.Q645H 1 0.454545455 ENSG00000122707 chr9:36112351-36112351;G/C missense_variant False RECK@p.G377R 1 0.106060606 ENSG00000122707 chr9:36100374-36100374;G/A missense_variant False RECK@p.E618K 1 0.215189873 ENSG00000122707 chr9:36110043-36110043;G/A missense_variant False REC8@p.S420F 1 0.050505051 ENSG00000100918 chr14:24179403-24179403;C/T missense_variant False REC8@p.L479R 1 0.329113924 ENSG00000100918 chr14:24179711-24179711;T/G missense_variant False RECQL@p.I497M 1 0.122222222 ENSG00000004700 chr12:21471604-21471604;G/C missense_variant False REC8@p.F2Y 1 0.55 ENSG00000100918 chr14:24172557-24172557;T/A missense_variant False REC8@p.E461Q 1 0.285714286 ENSG00000100918 chr14:24179656-24179656;G/C missense_variant False REC8@p.E248K 1 0.072992701 ENSG00000100918 chr14:24177469-24177469;G/A missense_variant False REC114@p.Q190H 1 0.265306122 ENSG00000183324 chr15:73556325-73556325;G/C missense_variant False RDX@p.L463V 1 0.141509434 ENSG00000137710 chr11:110233437-110233437;A/C missense_variant False RDX@p.I300V 1 0.23880597 ENSG00000137710 chr11:110254007-110254007;T/C missense_variant False RECK@p.T697K 1 0.185185185 ENSG00000122707 chr9:36117014-36117014;C/A missense_variant False RECK@p.W82C 1 0.097560976 ENSG00000122707 chr9:36060130-36060130;G/T missense_variant False RECQL4@p.D605N 1 0.206349206 ENSG00000160957 chr8:144514254-144514254;C/T missense_variant False RECQL4@p.E1046K 1 0.245283019 ENSG00000160957 chr8:144512244-144512244;C/T missense_variant False RECQL4@p.E660K 1 0.545454545 ENSG00000160957 chr8:144514008-144514008;C/T missense_variant False RECQL4@p.R894T 1 0.307692308 ENSG00000160957 chr8:144512921-144512921;C/G missense_variant False RECQL5@p.C832Y 1 0.120689655 ENSG00000108469 chr17:75628757-75628757;C/T missense_variant False RECQL5@p.D607N 1 0.125 ENSG00000108469 chr17:75629836-75629836;C/T missense_variant False RECQL5@p.D901H 1 0.141732283 ENSG00000108469 chr17:75628322-75628322;C/G missense_variant False RECQL5@p.E469K 1 0.411214953 ENSG00000108469 chr17:75631493-75631493;C/T missense_variant False RECQL5@p.E792K 1 0.095238095 ENSG00000108469 chr17:75629049-75629049;C/T missense_variant False RECQL5@p.G810A 1 0.113207547 ENSG00000108469 chr17:75628994-75628994;C/G missense_variant False RECQL5@p.L79F 1 0.186311787 ENSG00000108469 chr17:75665068-75665068;G/A missense_variant False RECQL5@p.Q820H 1 0.089285714 ENSG00000108469 chr17:75628963-75628963;C/A missense_variant False RECQL5@p.R770Q 1 0.4 ENSG00000108469 chr17:75629114-75629114;C/T missense_variant False RECQL5@p.R976L 1 0.446808511 ENSG00000108469 chr17:75627471-75627471;C/A missense_variant False RECQL@p.G421E 1 0.65060241 ENSG00000004700 chr12:21474934-21474934;C/T missense_variant False RELB@p.L393F 1 0.631578947 ENSG00000104856 chr19:45032721-45032721;G/T missense_variant False RELB@p.S468C 1 0.08125 ENSG00000104856 chr19:45037453-45037453;C/G missense_variant False RERE@p.D326N 1 0.333333333 ENSG00000142599 chr1:8497433-8497433;C/T missense_variant False REM1@p.R181H 1 0.203389831 ENSG00000088320 chr20:31482405-31482405;G/A missense_variant False RENBP@p.F369Lfs*4 1 0.166666667 ENSG00000102032 chrX:153935547-153935547;A/- frameshift_variant False RENBP@p.E12K 1 0.310344828 ENSG00000102032 chrX:153944412-153944412;C/T missense_variant False REN@p.R9C 1 0.138888889 ENSG00000143839 chr1:204166269-204166269;G/A missense_variant False REN@p.A405T 1 0.229357798 ENSG00000143839 chr1:204155024-204155024;C/T missense_variant False REM2@p.S97L 1 0.145454545 ENSG00000139890 chr14:22884860-22884860;C/T missense_variant False REM2@p.G121E 1 0.18018018 ENSG00000139890 chr14:22884932-22884932;G/A missense_variant False REM1@p.E6K 1 0.190184049 ENSG00000088320 chr20:31476461-31476461;G/A missense_variant False RELN@p.S1879C 1 0.096774194 ENSG00000189056 chr7:103557138-103557138;G/C missense_variant False REM1@p.A214T 1 0.6 ENSG00000088320 chr20:31484173-31484173;G/A missense_variant False RELT@p.S289L 1 0.134146341 ENSG00000054967 chr11:73394554-73394554;C/T missense_variant False RELN@p.Y339H 1 0.516129032 ENSG00000189056 chr7:103697981-103697981;A/G missense_variant False RELN@p.V240I 1 0.449152542 ENSG00000189056 chr7:103728146-103728146;C/T missense_variant False RELN@p.T2963S 1 0.245614035 ENSG00000189056 chr7:103497882-103497882;G/C missense_variant False RELN@p.S34P 1 0.367346939 ENSG00000189056 chr7:103989257-103989257;A/G missense_variant False RENBP@p.M320I 1 0.184615385 ENSG00000102032 chrX:153940219-153940219;C/T missense_variant False RENBP@p.P247T 1 0.330882353 ENSG00000102032 chrX:153941980-153941980;G/T missense_variant False REP15@p.E42Q 1 0.096774194 ENSG00000174236 chr12:27696686-27696686;G/C missense_variant False REPIN1@p.F245L 1 0.426470588 ENSG00000214022 chr7:150371976-150371976;C/A missense_variant False REPS1@p.L242P 1 0.442622951 ENSG00000135597 chr6:138944526-138944526;A/G missense_variant False REPS1@p.L731V 1 0.178861789 ENSG00000135597 chr6:138908693-138908693;G/C missense_variant False REPS1@p.R269C 1 0.490566038 ENSG00000135597 chr6:138943964-138943964;G/A missense_variant False REPS1@p.S212F 1 0.442307692 ENSG00000135597 chr6:138944616-138944616;G/A missense_variant False REPS1@p.S594L 1 0.731707317 ENSG00000135597 chr6:138914701-138914701;G/A missense_variant False REPS2@p.A392V 1 0.235294118 ENSG00000169891 chrX:17062498-17062498;C/T missense_variant False REPS2@p.E147K 1 0.649122807 ENSG00000169891 chrX:17022164-17022164;G/A missense_variant False REPS2@p.E220Sfs*5 1 0.314814815 ENSG00000169891 chrX:17025167-17025177;GCAGAACAGAT/- frameshift_variant False REPS2@p.F109L 1 0.1625 ENSG00000169891 chrX:17006272-17006272;T/C missense_variant False REPS2@p.R483G 1 0.108374384 ENSG00000169891 chrX:17077338-17077338;C/G missense_variant False REPS2@p.S240L 1 0.209302326 ENSG00000169891 chrX:17029571-17029571;C/T missense_variant False RER1@p.I113T 1 0.065789474 ENSG00000157916 chr1:2400908-2400908;T/C missense_variant False RERE@p.D1138Qfs*110 1 0.123595506 ENSG00000142599 chr1:8359943-8359970;TCCGGGCACACGAGTTGTAGCCCCGGTC/- frameshift_variant False RELN@p.S2841L 1 0.289940828 ENSG00000189056 chr7:103500890-103500890;G/A missense_variant False RELN@p.R755H 1 0.416666667 ENSG00000189056 chr7:103636274-103636274;C/T missense_variant False RELCH@p.D364Y 1 0.333333333 ENSG00000134444 chr18:62227625-62227625;G/T missense_variant False RELN@p.C1416G 1 0.466666667 ENSG00000189056 chr7:103575605-103575605;A/C missense_variant False RELN@p.D2381N 1 0.24 ENSG00000189056 chr7:103539117-103539117;C/T missense_variant False RELN@p.D2180H 1 0.090909091 ENSG00000189056 chr7:103542864-103542864;C/G missense_variant False RELN@p.D185H 1 0.090909091 ENSG00000189056 chr7:103753206-103753206;C/G missense_variant False RELN@p.D1693N 1 0.162162162 ENSG00000189056 chr7:103565411-103565411;C/T missense_variant False RELN@p.D1563N 1 0.309090909 ENSG00000189056 chr7:103566661-103566661;C/T missense_variant False RELN@p.D1246H 1 0.147058824 ENSG00000189056 chr7:103593858-103593858;C/G missense_variant False RELN@p.A1341S 1 0.14953271 ENSG00000189056 chr7:103589720-103589720;C/A missense_variant False RELN@p.R2639H 1 0.242424242 ENSG00000189056 chr7:103515388-103515388;C/T missense_variant False RELL2@p.G196D 1 0.453333333 ENSG00000164620 chr5:141640003-141640003;G/A missense_variant False RELL2@p.E83K 1 0.23880597 ENSG00000164620 chr5:141638857-141638857;G/A missense_variant False RELCH@p.R804C 1 0.492957746 ENSG00000134444 chr18:62264048-62264048;C/T missense_variant False RELCH@p.N297S 1 0.4 ENSG00000134444 chr18:62227320-62227320;A/G missense_variant False RELCH@p.L1148V 1 0.205479452 ENSG00000134444 chr18:62291614-62291614;C/G missense_variant False RELCH@p.D672H 1 0.233333333 ENSG00000134444 chr18:62258065-62258065;G/C missense_variant False RELN@p.D3416A 1 0.405940594 ENSG00000189056 chr7:103482906-103482906;T/G missense_variant False RELN@p.D802H 1 0.045454545 ENSG00000189056 chr7:103635486-103635486;C/G missense_variant False RELN@p.E1366K 1 0.14973262 ENSG00000189056 chr7:103589645-103589645;C/T missense_variant False RELN@p.E3052K 1 0.348214286 ENSG00000189056 chr7:103496565-103496565;C/T missense_variant False RELN@p.E397K 1 0.071428571 ENSG00000189056 chr7:103682216-103682216;C/T missense_variant False RELN@p.E425Q 1 0.169811321 ENSG00000189056 chr7:103682132-103682132;C/G missense_variant False RELN@p.F1841C 1 0.346938776 ENSG00000189056 chr7:103561539-103561539;A/C missense_variant False RELN@p.G1405A 1 0.396825397 ENSG00000189056 chr7:103575637-103575637;C/G missense_variant False RELN@p.G2129S 1 0.089285714 ENSG00000189056 chr7:103545262-103545262;C/T missense_variant False RELN@p.I1978M 1 0.365853659 ENSG00000189056 chr7:103553695-103553695;G/C missense_variant False RELN@p.I3246V 1 0.315789474 ENSG00000189056 chr7:103489769-103489769;T/C missense_variant False RELN@p.L2213F 1 0.247524752 ENSG00000189056 chr7:103542763-103542763;C/G missense_variant False RELN@p.L3234V 1 0.583333333 ENSG00000189056 chr7:103489805-103489805;G/C missense_variant False RELN@p.M1070T 1 0.244444444 ENSG00000189056 chr7:103603428-103603428;A/G missense_variant False RELN@p.R1825Kfs*7 1 0.327433628 ENSG00000189056 chr7:103561587-103561588;-/T frameshift_variant False RELN@p.R2106T 1 0.222222222 ENSG00000189056 chr7:103545330-103545330;C/G missense_variant False RELN@p.R2524Q 1 0.133333333 ENSG00000189056 chr7:103522119-103522119;C/T missense_variant False RFTN1@p.S263N 1 0.545454545 ENSG00000131378 chr3:16377756-16377756;C/T missense_variant False RFTN2@p.D242N 1 0.316666667 ENSG00000162944 chr2:197631215-197631215;C/T missense_variant False RFTN2@p.E212Q 1 0.207865169 ENSG00000162944 chr2:197633802-197633802;C/G missense_variant False RHCG@p.V66M 1 0.102040816 ENSG00000140519 chr15:89486974-89486974;C/T missense_variant False RHEX@p.Q51Rfs*18 1 0.112244898 ENSG00000263961 chr1:206099694-206099694;A/- frameshift_variant False RHEX@p.E74K 1 0.385026738 ENSG00000263961 chr1:206099762-206099762;G/A missense_variant False RHEB@p.I90M 1 0.048076923 ENSG00000106615 chr7:151477338-151477338;G/C missense_variant False RHEB@p.G51R 1 0.085714286 ENSG00000106615 chr7:151484778-151484778;C/T missense_variant False RHD@p.S256L 1 0.188571429 ENSG00000187010 chr1:25301652-25301652;C/T missense_variant False RHD@p.D40N 1 0.27826087 ENSG00000187010 chr1:25272665-25272665;G/A missense_variant False RHCG@p.Q379E 1 0.534246575 ENSG00000140519 chr15:89477184-89477184;G/C missense_variant False RHCE@p.G255R 1 0.228070175 ENSG00000188672 chr1:25390787-25390787;C/T missense_variant False RHCG@p.I340F 1 0.611111111 ENSG00000140519 chr15:89477611-89477611;T/A missense_variant False RHCG@p.F235L 1 0.470588235 ENSG00000140519 chr15:89479454-89479454;G/C missense_variant False RHCE@p.W393C 1 0.474576271 ENSG00000188672 chr1:25370515-25370515;C/A missense_variant False RHCE@p.S256L 1 0.123529412 ENSG00000188672 chr1:25390783-25390783;G/A missense_variant False RHCE@p.S158N 1 0.154811715 ENSG00000188672 chr1:25402609-25402609;C/T missense_variant False RHCE@p.R11H 1 0.723404255 ENSG00000188672 chr1:25420755-25420755;C/T missense_variant False RHNO1@p.S104L 1 0.133333333 ENSG00000171792 chr12:2888053-2888053;C/T missense_variant False RHO@p.F273L 1 0.340659341 ENSG00000163914 chr3:129532655-129532655;C/A missense_variant False RHOA@p.A161T 1 0.11971831 ENSG00000067560 chr3:49360310-49360310;C/T missense_variant False RHOA@p.A161V 1 0.462427746 ENSG00000067560 chr3:49360309-49360309;G/A missense_variant False RHOA@p.C20G 1 0.37704918 ENSG00000067560 chr3:49375532-49375532;A/C missense_variant False RHOA@p.D28N 1 0.450980392 ENSG00000067560 chr3:49375508-49375508;C/T missense_variant False RHOA@p.D28Y 1 0.25625 ENSG00000067560 chr3:49375508-49375508;C/A missense_variant False RHOA@p.D76Y 1 0.455357143 ENSG00000067560 chr3:49368479-49368479;C/A missense_variant False RHOA@p.F106L 1 0.505154639 ENSG00000067560 chr3:49362586-49362586;G/C missense_variant False RHOA@p.G17A 1 0.113636364 ENSG00000067560 chr3:49375540-49375540;C/G missense_variant False RHOA@p.K118N 1 0.094890511 ENSG00000067560 chr3:49362550-49362550;C/G missense_variant False RHOA@p.L22P 1 0.320610687 ENSG00000067560 chr3:49375525-49375525;A/G missense_variant False RHOA@p.Q63K 1 0.208 ENSG00000067560 chr3:49368518-49368518;G/T missense_variant False RHOA@p.R168T 1 0.278145695 ENSG00000067560 chr3:49360288-49360288;C/G missense_variant False RHOA@p.S26R 1 0.525862069 ENSG00000067560 chr3:49375512-49375512;G/C missense_variant False RHOB@p.D155H 1 0.141732283 ENSG00000143878 chr2:20447928-20447928;G/C missense_variant False RHOB@p.D28E 1 0.580645161 ENSG00000143878 chr2:20447549-20447549;C/G missense_variant False RHCE@p.L26F 1 0.303571429 ENSG00000188672 chr1:25420711-25420711;G/A missense_variant False RHCE@p.E196K 1 0.370689655 ENSG00000188672 chr1:25392042-25392042;C/T missense_variant False RHOB@p.E102K 1 0.302631579 ENSG00000143878 chr2:20447769-20447769;G/A missense_variant False RHBDD1@p.N155D 1 0.219298246 ENSG00000144468 chr2:226867215-226867215;A/G missense_variant False RHBDF1@p.E436K 1 0.357142857 ENSG00000007384 chr16:61599-61599;C/T missense_variant False RHBDF1@p.E209Q 1 0.325 ENSG00000007384 chr16:63020-63020;C/G missense_variant False RHBDF1@p.D125N 1 0.234375 ENSG00000007384 chr16:63676-63676;C/T missense_variant False RHBDD2@p.V210L 1 0.040935673 ENSG00000005486 chr7:75883739-75883739;G/C missense_variant False RHBDD2@p.R225del 1 0.291079812 ENSG00000005486 chr7:75883780-75883782;GAG/- inframe_deletion False RHBDD1@p.W79C 1 0.342857143 ENSG00000144468 chr2:226864930-226864930;G/T missense_variant False RHBDD1@p.D284Tfs*21 1 0.409090909 ENSG00000144468 chr2:226914343-226914343;G/- frameshift_variant False RHCE@p.A127V 1 0.410714286 ENSG00000188672 chr1:25402702-25402702;G/A missense_variant False RHAG@p.M144I 1 0.178571429 ENSG00000112077 chr6:49618128-49618128;C/T missense_variant False RGS9@p.V223L 1 0.075221239 ENSG00000108370 chr17:65189298-65189298;G/C missense_variant False RGS9@p.V223A 1 0.326829268 ENSG00000108370 chr17:65189299-65189299;T/C missense_variant False RGS9@p.S600L 1 0.176165803 ENSG00000108370 chr17:65225393-65225393;C/T missense_variant False RGS9@p.R4L 1 0.081967213 ENSG00000108370 chr17:65137551-65137551;G/T missense_variant False RGS9@p.L94V 1 0.387559809 ENSG00000108370 chr17:65160307-65160307;C/G missense_variant False RHBDF1@p.R103H 1 0.136363636 ENSG00000007384 chr16:63741-63741;C/T missense_variant False RHBDF2@p.L712F 1 0.294117647 ENSG00000129667 chr17:76472703-76472703;G/A missense_variant False RHBDF2@p.S497L 1 0.461538462 ENSG00000129667 chr17:76474434-76474434;G/A missense_variant False RHBDL1@p.P106L 1 0.555555556 ENSG00000103269 chr16:676418-676418;C/T missense_variant False RHBDL2@p.D33N 1 0.191489362 ENSG00000158315 chr1:38919116-38919116;C/T missense_variant False RHBDL2@p.M30I 1 0.230215827 ENSG00000158315 chr1:38919123-38919123;C/T missense_variant False RHBDL2@p.R31T 1 0.054878049 ENSG00000158315 chr1:38919121-38919121;C/G missense_variant False RHBDL3@p.A342V 1 0.140625 ENSG00000141314 chr17:32321039-32321039;C/T missense_variant False RHBDL3@p.G128R 1 0.540540541 ENSG00000141314 chr17:32288879-32288879;G/A missense_variant False RHBDL3@p.R307G 1 0.078212291 ENSG00000141314 chr17:32316268-32316268;C/G missense_variant False RHBDL3@p.V285I 1 0.084745763 ENSG00000141314 chr17:32305412-32305412;G/A missense_variant False RHBDL3@p.Y254C 1 0.185185185 ENSG00000141314 chr17:32298184-32298184;A/G missense_variant False RHBDL3@p.Y282C 1 0.266666667 ENSG00000141314 chr17:32305404-32305404;A/G missense_variant False RHBG@p.A8_R11del 1 0.18627451 ENSG00000132677 chr1:156369266-156369277;GCCGCGCCGCGG/- inframe_deletion False RHBG@p.A98S 1 0.119565217 ENSG00000132677 chr1:156377405-156377405;G/T missense_variant False RHBG@p.H434Y 1 0.714285714 ENSG00000132677 chr1:156384592-156384592;C/T missense_variant False RHBG@p.P348L 1 0.205882353 ENSG00000132677 chr1:156382132-156382132;C/T missense_variant False RHOB@p.D65Y 1 0.515789474 ENSG00000143878 chr2:20447658-20447658;G/T missense_variant False RHOB@p.E40Q 1 0.12745098 ENSG00000143878 chr2:20447583-20447583;G/C missense_variant False RGS7BP@p.R123W 1 0.617021277 ENSG00000186479 chr5:64575808-64575808;C/T missense_variant False RHPN1@p.W565R 1 0.323529412 ENSG00000158106 chr8:143381864-143381864;T/C missense_variant False RIC1@p.E386K 1 0.463855422 ENSG00000107036 chr9:5745991-5745991;G/A missense_variant False RIC1@p.E1402K 1 0.196261682 ENSG00000107036 chr9:5774178-5774178;G/A missense_variant False RIC1@p.E1246K 1 0.128834356 ENSG00000107036 chr9:5772683-5772683;G/A missense_variant False RIC1@p.D390N 1 0.16091954 ENSG00000107036 chr9:5746003-5746003;G/A missense_variant False RHPN2@p.V80I 1 0.407643312 ENSG00000131941 chr19:33026580-33026580;C/T missense_variant False RHPN2@p.R184Q 1 0.492957746 ENSG00000131941 chr19:33011721-33011721;C/T missense_variant False RHPN1@p.G94D 1 0.444444444 ENSG00000158106 chr8:143376629-143376629;G/A missense_variant False RHOV@p.P78S 1 0.263157895 ENSG00000104140 chr15:40873719-40873719;G/A missense_variant False RHPN1@p.E319G 1 0.222222222 ENSG00000158106 chr8:143379839-143379839;A/G missense_variant False RHOXF2B@p.L60F 1 0.466666667 ENSG00000203989 chrX:120077188-120077188;T/A missense_variant False RHOXF2B@p.E148K 1 0.150943396 ENSG00000203989 chrX:120076926-120076926;C/T missense_variant False RHOXF2@p.D79Mfs*93 1 0.264150943 ENSG00000131721 chrX:120159165-120159165;A/- frameshift_variant False RHOXF1@p.P42Q 1 0.162162162 ENSG00000101883 chrX:120115738-120115738;G/T missense_variant False RHOXF1@p.M93K 1 0.3375 ENSG00000101883 chrX:120115585-120115585;A/T missense_variant False RIC1@p.E929K 1 0.283687943 ENSG00000107036 chr9:5763812-5763812;G/A missense_variant False RIC1@p.G307V 1 0.366071429 ENSG00000107036 chr9:5742887-5742887;G/T missense_variant False RIC1@p.H580Y 1 0.466666667 ENSG00000107036 chr9:5756257-5756257;C/T missense_variant False RIC1@p.L789V 1 0.242937853 ENSG00000107036 chr9:5763392-5763392;C/G missense_variant False RIC1@p.R1378Afs*60 1 0.446153846 ENSG00000107036 chr9:5774103-5774104;-/GC frameshift_variant False RIC1@p.S1236C 1 0.09375 ENSG00000107036 chr9:5772654-5772654;C/G missense_variant False RIC3@p.G169A 1 0.257575758 ENSG00000166405 chr11:8137393-8137393;C/G missense_variant False RIC3@p.R167K 1 0.843373494 ENSG00000166405 chr11:8137399-8137399;C/T missense_variant False RIC8A@p.E402K 1 0.431372549 ENSG00000177963 chr11:212753-212753;G/A missense_variant False RIC8A@p.E445K 1 0.571428571 ENSG00000177963 chr11:212959-212959;G/A missense_variant False RIC8A@p.L360V 1 0.5625 ENSG00000177963 chr11:212627-212627;C/G missense_variant False RIC8B@p.D206N 1 0.169642857 ENSG00000111785 chr12:106815179-106815179;G/A missense_variant False RIC8B@p.E223D 1 0.3828125 ENSG00000111785 chr12:106815232-106815232;G/C missense_variant False RIC8B@p.R43T 1 0.252873563 ENSG00000111785 chr12:106784040-106784040;G/C missense_variant False RIC8B@p.T270S 1 0.369565217 ENSG00000111785 chr12:106825792-106825792;A/T missense_variant False RICTOR@p.D175H 1 0.060240964 ENSG00000164327 chr5:38991009-38991009;C/G missense_variant False RICTOR@p.E1196Q 1 0.224242424 ENSG00000164327 chr5:38950262-38950262;C/G missense_variant False RHOV@p.Q71L 1 0.204918033 ENSG00000104140 chr15:40873739-40873739;T/A missense_variant False RHOV@p.I202V 1 0.347826087 ENSG00000104140 chr15:40873165-40873165;T/C missense_variant False RHOB@p.F106L 1 0.275641026 ENSG00000143878 chr2:20447783-20447783;C/A missense_variant False RHOBTB1@p.E75K 1 0.181818182 ENSG00000072422 chr10:60910960-60910960;C/T missense_variant False RHOBTB2@p.L80V 1 0.172413793 ENSG00000008853 chr8:23005417-23005417;C/G missense_variant False RHOBTB1@p.V190L 1 0.193370166 ENSG00000072422 chr10:60889100-60889100;C/G missense_variant False RHOBTB1@p.S637L 1 0.237623762 ENSG00000072422 chr10:60872196-60872196;G/A missense_variant False RHOBTB1@p.R94H 1 0.24137931 ENSG00000072422 chr10:60910902-60910902;C/T missense_variant False RHOBTB1@p.R650C 1 0.297297297 ENSG00000072422 chr10:60871625-60871625;G/A missense_variant False RHOBTB1@p.K164N 1 0.465909091 ENSG00000072422 chr10:60889176-60889176;C/G missense_variant False RHOB@p.S85L 1 0.086956522 ENSG00000143878 chr2:20447719-20447719;C/T missense_variant False RHOV@p.E185K 1 0.268518519 ENSG00000104140 chr15:40873216-40873216;C/T missense_variant False RHOB@p.Q63H 1 0.153846154 ENSG00000143878 chr2:20447654-20447654;G/T missense_variant False RHOB@p.P75L 1 0.242105263 ENSG00000143878 chr2:20447689-20447689;C/T missense_variant False RHOB@p.N94K 1 0.267015707 ENSG00000143878 chr2:20447747-20447747;C/A missense_variant False RHOB@p.K162N 1 0.131578947 ENSG00000143878 chr2:20447951-20447951;G/C missense_variant False RHOB@p.I46S 1 0.495049505 ENSG00000143878 chr2:20447602-20447602;T/G missense_variant False RHOB@p.G14S 1 0.278688525 ENSG00000143878 chr2:20447505-20447505;G/A missense_variant False RHOBTB2@p.S286C 1 0.518518519 ENSG00000008853 chr8:23007102-23007102;C/G missense_variant False RHOBTB3@p.E11K 1 0.307692308 ENSG00000164292 chr5:95731887-95731887;G/A missense_variant False RHOBTB3@p.E358K 1 0.123287671 ENSG00000164292 chr5:95763531-95763531;G/A missense_variant False RHOBTB3@p.E39D 1 0.352941176 ENSG00000164292 chr5:95731973-95731973;G/C missense_variant False RHOBTB3@p.F449C 1 0.5625 ENSG00000164292 chr5:95780315-95780315;T/G missense_variant False RHOBTB3@p.L472Cfs*4 1 0.204819277 ENSG00000164292 chr5:95780382-95780382;C/- frameshift_variant False RHOH@p.E135K 1 0.262295082 ENSG00000168421 chr4:40243789-40243789;G/A missense_variant False RHOH@p.H126Q 1 0.25 ENSG00000168421 chr4:40243764-40243764;C/G missense_variant False RHOH@p.R23C 1 0.433333333 ENSG00000168421 chr4:40243453-40243453;C/T missense_variant False RHOJ@p.D139N 1 0.419354839 ENSG00000126785 chr14:63283133-63283133;G/A missense_variant False RHOQ@p.E36K 1 0.221402214 ENSG00000119729 chr2:46543152-46543152;G/A missense_variant False RHOT1@p.E300K 1 0.239316239 ENSG00000126858 chr17:32198975-32198975;G/A missense_variant False RHOT1@p.S479L 1 0.271028037 ENSG00000126858 chr17:32206929-32206929;C/T missense_variant False RHOU@p.D168H 1 0.125 ENSG00000116574 chr1:228743465-228743465;G/C missense_variant False RHOU@p.E185K 1 0.422018349 ENSG00000116574 chr1:228743516-228743516;G/A missense_variant False RHOU@p.E213Q 1 0.074468085 ENSG00000116574 chr1:228743600-228743600;G/C missense_variant False RHOU@p.G160A 1 0.059139785 ENSG00000116574 chr1:228743442-228743442;G/C missense_variant False RGS7BP@p.S142C 1 0.225 ENSG00000186479 chr5:64575866-64575866;C/G missense_variant False RGS7@p.Y128N 1 0.577689243 ENSG00000182901 chr1:240930720-240930720;A/T missense_variant False RFTN2@p.E448K 1 0.144329897 ENSG00000162944 chr2:197572172-197572172;C/T missense_variant False RGL1@p.S713L 1 0.225806452 ENSG00000143344 chr1:183926123-183926123;C/T missense_variant False RGL2@p.S421Ffs*29 1 0.545454545 ENSG00000237441 chr6:33294993-33294994;-/A frameshift_variant False RGL2@p.S146C 1 0.909090909 ENSG00000237441 chr6:33296447-33296447;G/C missense_variant False RGL2@p.S110L 1 0.365853659 ENSG00000237441 chr6:33296688-33296688;G/A missense_variant False RGL2@p.L222F 1 0.342342342 ENSG00000237441 chr6:33296132-33296132;G/A missense_variant False RGL2@p.I530M 1 0.193548387 ENSG00000237441 chr6:33293618-33293618;G/C missense_variant False RGL2@p.E177Q 1 0.064935065 ENSG00000237441 chr6:33296267-33296267;C/G missense_variant False RGL1@p.S326F 1 0.359756098 ENSG00000143344 chr1:183888499-183888499;C/T missense_variant False RFX6@p.Q475H 1 0.211764706 ENSG00000185002 chr6:116922139-116922139;G/C missense_variant False RFXAP@p.S190L 1 0.128205128 ENSG00000133111 chr13:36819926-36819926;C/T missense_variant False RFX7@p.M370I 1 0.102040816 ENSG00000181827 chr15:56096327-56096327;C/T missense_variant False RFX7@p.L1160F 1 0.44 ENSG00000181827 chr15:56093959-56093959;G/A missense_variant False RFX7@p.E798Q 1 0.333333333 ENSG00000181827 chr15:56095045-56095045;C/G missense_variant False RFX6@p.S520C 1 0.082191781 ENSG00000185002 chr6:116924672-116924672;C/G missense_variant False RFX6@p.S516C 1 0.211538462 ENSG00000185002 chr6:116923216-116923216;C/G missense_variant False RGL3@p.E126Q 1 0.059701493 ENSG00000205517 chr19:11416663-11416663;C/G missense_variant False RGL3@p.R630Q 1 0.45 ENSG00000205517 chr19:11397455-11397455;C/T missense_variant False RGL3@p.T130K 1 0.217391304 ENSG00000205517 chr19:11416650-11416650;G/T missense_variant False RGL4@p.D404H 1 0.170212766 ENSG00000159496 chr22:23697219-23697219;G/C missense_variant False RGL4@p.S313C 1 0.433962264 ENSG00000159496 chr22:23694372-23694372;C/G missense_variant False RGL4@p.S365N 1 0.2 ENSG00000159496 chr22:23696621-23696621;G/A missense_variant False RGMA@p.A274D 1 0.75 ENSG00000182175 chr15:93045530-93045530;G/T missense_variant False RGMA@p.D387N 1 0.235294118 ENSG00000182175 chr15:93045192-93045192;C/T missense_variant False RGMA@p.E137Q 1 0.080645161 ENSG00000182175 chr15:93052229-93052229;C/G missense_variant False RGMA@p.E305K 1 0.19047619 ENSG00000182175 chr15:93045438-93045438;C/T missense_variant False RGMB@p.C163Lfs*15 1 0.24 ENSG00000174136 chr5:98779924-98779925;-/T frameshift_variant False RGMB@p.E320K 1 0.16 ENSG00000174136 chr5:98793397-98793397;G/A missense_variant False RGN@p.D204N 1 0.243902439 ENSG00000130988 chrX:47091725-47091725;G/A missense_variant False RGP1@p.R59Q 1 0.894736842 ENSG00000107185 chr9:35750302-35750302;G/A missense_variant False RGP1@p.T33M 1 0.242424242 ENSG00000107185 chr9:35749853-35749853;C/T missense_variant False RGPD1@p.D1354H 1 0.242424242 ENSG00000187627 chr2:86986983-86986983;G/C missense_variant False RGPD2@p.D1278H 1 0.425 ENSG00000185304 chr2:87783192-87783192;C/G missense_variant False RFX6@p.Q896E 1 0.278350515 ENSG00000185002 chr6:116931405-116931405;C/G missense_variant False RFX6@p.Q424E 1 0.183544304 ENSG00000185002 chr6:116920397-116920397;C/G missense_variant False RGPD2@p.E1346K 1 0.18956044 ENSG00000185304 chr2:87782988-87782988;C/T missense_variant False RFWD3@p.S221F 1 0.624242424 ENSG00000168411 chr16:74651979-74651979;G/A missense_variant False RFX3@p.G145D 1 0.109589041 ENSG00000080298 chr9:3330299-3330299;C/T missense_variant False RFX3@p.D64N 1 0.267857143 ENSG00000080298 chr9:3346692-3346692;C/T missense_variant False RFX2@p.R693H 1 0.191489362 ENSG00000087903 chr19:5994929-5994929;C/T missense_variant False RFX2@p.E96K 1 0.232 ENSG00000087903 chr19:6040216-6040216;C/T missense_variant False RFX2@p.E706K 1 0.38028169 ENSG00000087903 chr19:5994891-5994891;C/T missense_variant False RFX1@p.E797Q 1 0.173913043 ENSG00000132005 chr19:13963719-13963719;C/G missense_variant False RFWD3@p.S216C 1 0.634920635 ENSG00000168411 chr16:74651994-74651994;G/C missense_variant False RFX6@p.I311M 1 0.115789474 ENSG00000185002 chr6:116916275-116916275;C/G missense_variant False RFWD3@p.L350V 1 0.138888889 ENSG00000168411 chr16:74644393-74644393;A/C missense_variant False RFWD3@p.H110Y 1 0.21978022 ENSG00000168411 chr16:74661122-74661122;G/A missense_variant False RFWD3@p.D215N 1 0.346938776 ENSG00000168411 chr16:74651998-74651998;C/T missense_variant False RFTN2@p.S112L 1 0.965517241 ENSG00000162944 chr2:197644261-197644261;G/A missense_variant False RFTN2@p.H176R 1 0.41025641 ENSG00000162944 chr2:197633909-197633909;T/C missense_variant False RFTN2@p.E9K 1 0.2909699 ENSG00000162944 chr2:197675434-197675434;C/T missense_variant False RFX3@p.G62E 1 0.090909091 ENSG00000080298 chr9:3346697-3346697;C/T missense_variant False RFX3@p.H504Y 1 0.530864198 ENSG00000080298 chr9:3263030-3263030;G/A missense_variant False RFX3@p.L330V 1 0.446428571 ENSG00000080298 chr9:3275598-3275598;G/C missense_variant False RFX3@p.R237Q 1 0.22826087 ENSG00000080298 chr9:3293098-3293098;C/T missense_variant False RFX3@p.S317N 1 0.303571429 ENSG00000080298 chr9:3277363-3277363;C/T missense_variant False RFX4@p.D368H 1 0.326086957 ENSG00000111783 chr12:106715508-106715508;G/C missense_variant False RFX4@p.I630M 1 0.21641791 ENSG00000111783 chr12:106750748-106750748;C/G missense_variant False RFX4@p.P9S 1 0.233766234 ENSG00000111783 chr12:106583345-106583345;C/T missense_variant False RFX4@p.R708C 1 0.14159292 ENSG00000111783 chr12:106761383-106761383;C/T missense_variant False RFX4@p.S512L 1 0.508108108 ENSG00000111783 chr12:106732987-106732987;C/T missense_variant False RFX4@p.V161G 1 0.046948357 ENSG00000111783 chr12:106686988-106686988;T/G missense_variant False RFX5@p.D610N 1 0.294117647 ENSG00000143390 chr1:151342209-151342209;C/T missense_variant False RFX5@p.E23K 1 0.212962963 ENSG00000143390 chr1:151346254-151346254;C/T missense_variant False RFX5@p.E435Sfs*5 1 0.206128134 ENSG00000143390 chr1:151342734-151342735;CA/- frameshift_variant False RFX5@p.G189C 1 0.08988764 ENSG00000143390 chr1:151343873-151343873;C/A missense_variant False RFX5@p.L355I 1 0.175675676 ENSG00000143390 chr1:151342974-151342974;G/T missense_variant False RFX6@p.E50K 1 0.44 ENSG00000185002 chr6:116877423-116877423;G/A missense_variant False RGPD2@p.E1328K 1 0.425 ENSG00000185304 chr2:87783042-87783042;C/T missense_variant False RGPD2@p.S911C 1 0.15 ENSG00000185304 chr2:87784292-87784292;G/C missense_variant False RGS7@p.S434L 1 0.181818182 ENSG00000182901 chr1:240802962-240802962;G/A missense_variant False RGS22@p.I473M 1 0.428571429 ENSG00000132554 chr8:100062686-100062686;G/C missense_variant False RGS22@p.S1248C 1 0.15942029 ENSG00000132554 chr8:99962734-99962734;G/C missense_variant False RGS22@p.S1032L 1 0.189655172 ENSG00000132554 chr8:99987543-99987543;G/A missense_variant False RGS22@p.R890T 1 0.153846154 ENSG00000132554 chr8:100002323-100002323;C/G missense_variant False RGS22@p.M97T 1 0.070539419 ENSG00000132554 chr8:100080183-100080183;A/G missense_variant False RGS22@p.L72V 1 0.476190476 ENSG00000132554 chr8:100080259-100080259;G/C missense_variant False RGS22@p.L115F 1 0.222222222 ENSG00000132554 chr8:100072227-100072227;G/A missense_variant False RGS22@p.G249V 1 0.343042071 ENSG00000132554 chr8:100064022-100064022;C/A missense_variant False RGS20@p.F86L 1 0.174537988 ENSG00000147509 chr8:53879350-53879350;C/A missense_variant False RGS22@p.F421L 1 0.186046512 ENSG00000132554 chr8:100063507-100063507;A/G missense_variant False RGS22@p.E764Q 1 0.436363636 ENSG00000132554 chr8:100008446-100008446;C/G missense_variant False RGS22@p.D481H 1 0.047244094 ENSG00000132554 chr8:100062664-100062664;C/G missense_variant False RGS21@p.L136Tfs*4 1 0.205479452 ENSG00000253148 chr1:192366064-192366065;-/A frameshift_variant False RGS21@p.K65E 1 0.625 ENSG00000253148 chr1:192352151-192352151;A/G missense_variant False RGS21@p.E102Q 1 0.144578313 ENSG00000253148 chr1:192365969-192365969;G/C missense_variant False RGS22@p.S234A 1 0.090909091 ENSG00000132554 chr8:100066191-100066191;A/C missense_variant False RGS22@p.S310L 1 0.397058824 ENSG00000132554 chr8:100063839-100063839;G/A missense_variant False RGS22@p.S403C 1 0.051428571 ENSG00000132554 chr8:100063560-100063560;G/C missense_variant False RGS2@p.F119L 1 0.304597701 ENSG00000116741 chr1:192811063-192811063;C/G missense_variant False RGS3@p.A848V 1 0.457446809 ENSG00000138835 chr9:113583955-113583955;C/T missense_variant False RGS3@p.E663D 1 0.32 ENSG00000138835 chr9:113536870-113536870;G/C missense_variant False RGS3@p.S89C 1 0.583333333 ENSG00000138835 chr9:113462052-113462052;C/G missense_variant False RGS4@p.D150H 1 0.252836305 ENSG00000117152 chr1:163074390-163074390;G/C missense_variant False RGS5@p.R157T 1 0.313432836 ENSG00000143248 chr1:163147418-163147418;C/G missense_variant False RGS5@p.S54W 1 0.126984127 ENSG00000143248 chr1:163161971-163161971;G/C missense_variant False RGS6@p.P21R 1 0.153846154 ENSG00000182732 chr14:71964853-71964853;C/G missense_variant False RGS6@p.P397R 1 0.154929577 ENSG00000182732 chr14:72518449-72518449;C/G missense_variant False RGS6@p.Q389H 1 0.432432432 ENSG00000182732 chr14:72518426-72518426;A/T missense_variant False RGS7@p.D270H 1 0.195121951 ENSG00000182901 chr1:240814753-240814753;C/G missense_variant False RGS7@p.H80R 1 0.316455696 ENSG00000182901 chr1:240936694-240936694;T/C missense_variant False RGS7@p.L145V 1 0.403508772 ENSG00000182901 chr1:240870072-240870072;G/C missense_variant False RGS7@p.M220L 1 0.298701299 ENSG00000182901 chr1:240827124-240827124;T/A missense_variant False RGS21@p.D81N 1 0.157894737 ENSG00000253148 chr1:192352199-192352199;G/A missense_variant False RGS1@p.S85F 1 0.113924051 ENSG00000090104 chr1:192576809-192576809;C/T missense_variant False RGR@p.G229D 1 0.255813953 ENSG00000148604 chr10:84257936-84257936;G/A missense_variant False RGS12@p.C477W 1 0.15 ENSG00000159788 chr4:3317601-3317601;T/G missense_variant False RGS12@p.G50E 1 0.4375 ENSG00000159788 chr4:3316319-3316319;G/A missense_variant False RGS12@p.E933Q 1 0.075 ENSG00000159788 chr4:3420677-3420677;G/C missense_variant False RGS12@p.E1335Q 1 0.404255319 ENSG00000159788 chr4:3430844-3430844;G/C missense_variant False RGS12@p.D343N 1 0.080996885 ENSG00000159788 chr4:3317197-3317197;G/A missense_variant False RGS12@p.D218N 1 0.223880597 ENSG00000159788 chr4:3316822-3316822;G/A missense_variant False RGS12@p.D205N 1 0.092592593 ENSG00000159788 chr4:3316783-3316783;G/A missense_variant False RGS12@p.A296S 1 0.111111111 ENSG00000159788 chr4:3317056-3317056;G/T missense_variant False RGS1@p.D202N 1 0.071428571 ENSG00000090104 chr1:192579296-192579296;G/A missense_variant False RGS10@p.E67K 1 0.482758621 ENSG00000148908 chr10:119526064-119526064;C/T missense_variant False RGS10@p.E152K 1 0.486238532 ENSG00000148908 chr10:119500181-119500181;C/T missense_variant False RGS10@p.D159H 1 0.281553398 ENSG00000148908 chr10:119500160-119500160;C/G missense_variant False RGS10@p.D14H 1 0.136842105 ENSG00000148908 chr10:119527410-119527410;C/G missense_variant False RGR@p.L219V 1 0.189189189 ENSG00000148604 chr10:84257905-84257905;C/G missense_variant False RGR@p.L149V 1 0.372093023 ENSG00000148604 chr10:84252931-84252931;C/G missense_variant False RGS12@p.S1170F 1 0.5 ENSG00000159788 chr4:3428655-3428655;C/T missense_variant False RGS12@p.V1063M 1 0.248322148 ENSG00000159788 chr4:3423594-3423594;G/A missense_variant False RGS14@p.E182K 1 0.35 ENSG00000169220 chr5:177367474-177367474;G/A missense_variant False RGS14@p.E259K 1 0.10989011 ENSG00000169220 chr5:177368192-177368192;G/A missense_variant False RGS14@p.E499K 1 0.423076923 ENSG00000169220 chr5:177371586-177371586;G/A missense_variant False RGS14@p.L404V 1 0.171428571 ENSG00000169220 chr5:177370987-177370987;C/G missense_variant False RGS14@p.R335L 1 0.159574468 ENSG00000169220 chr5:177368871-177368871;G/T missense_variant False RGS16@p.G24V 1 0.439393939 ENSG00000143333 chr1:182603313-182603313;C/A missense_variant False RGS16@p.S30L 1 0.416 ENSG00000143333 chr1:182603295-182603295;G/A missense_variant False RGS17@p.C36Y 1 0.666666667 ENSG00000091844 chr6:153043912-153043912;C/T missense_variant False RGS18@p.L104V 1 0.138888889 ENSG00000150681 chr1:192181318-192181318;C/G missense_variant False RGS18@p.Q182E 1 0.105882353 ENSG00000150681 chr1:192184390-192184390;C/G missense_variant False RGS18@p.S34R 1 0.209677419 ENSG00000150681 chr1:192158739-192158739;C/G missense_variant False RGS18@p.T3I 1 0.230769231 ENSG00000150681 chr1:192158645-192158645;C/T missense_variant False RGS19@p.A217S 1 0.669811321 ENSG00000171700 chr20:64073858-64073858;C/A missense_variant False RGS19@p.D27Y 1 0.401785714 ENSG00000171700 chr20:64076598-64076598;C/A missense_variant False RGS19@p.E124K 1 0.326086957 ENSG00000171700 chr20:64074236-64074236;C/T missense_variant False RDX@p.F78L 1 0.403846154 ENSG00000137710 chr11:110264193-110264193;G/C missense_variant False RDM1@p.R75T 1 0.39010989 ENSG00000278023 chr17:35930128-35930128;C/G missense_variant False RDH8@p.V142L 1 0.545454545 ENSG00000080511 chr19:10018832-10018832;G/C missense_variant False RB1@p.Y728Sfs*19 1 0.583333333 ENSG00000139687 chr13:48463804-48463814;CATACAAGGAT/- frameshift_variant True RB1CC1@p.G789E 1 0.427672956 ENSG00000023287 chr8:52657463-52657463;C/T missense_variant False RB1CC1@p.G11R 1 0.042857143 ENSG00000023287 chr8:52685439-52685439;C/T missense_variant False RB1CC1@p.E887Q 1 0.224137931 ENSG00000023287 chr8:52657170-52657170;C/G missense_variant False RB1CC1@p.E1513K 1 0.269230769 ENSG00000023287 chr8:52628131-52628131;C/T missense_variant False RB1CC1@p.E1213K 1 0.267973856 ENSG00000023287 chr8:52656192-52656192;C/T missense_variant False RB1CC1@p.D1215H 1 0.317647059 ENSG00000023287 chr8:52656186-52656186;C/G missense_variant False RB1@p.Y454del 1 0.590909091 ENSG00000139687 chr13:48379621-48379623;TAC/- inframe_deletion True RB1@p.R798Tfs*17 1 0.357142857 ENSG00000139687 chr13:48465269-48465270;-/A frameshift_variant True RB1@p.V419Gfs*9 1 0.346153846 ENSG00000139687 chr13:48376956-48376957;-/G frameshift_variant True RB1@p.V193Lfs*8 1 0.533333333 ENSG00000139687 chr13:48348992-48348997;AGTTTC/G frameshift_variant True RB1@p.T271Nfs*5 1 0.369047619 ENSG00000139687 chr13:48362906-48362907;-/A frameshift_variant True RB1@p.S788Pfs*14 1 0.344827586 ENSG00000139687 chr13:48465240-48465264;AAGCCCTTACAAGTTTCCTAGTTCA/- frameshift_variant True RB1@p.S567L 1 0.303571429 ENSG00000139687 chr13:48452997-48452997;C/T missense_variant True RB1@p.R857Qfs*5 1 0.145833333 ENSG00000139687 chr13:48476748-48476755;CCGTGTGC/- frameshift_variant True RB1CC1@p.I433V 1 0.797468354 ENSG00000023287 chr8:52661596-52661596;T/C missense_variant False RB1CC1@p.L615I 1 0.081632653 ENSG00000023287 chr8:52658075-52658075;G/T missense_variant False RB1CC1@p.M1442I 1 0.238297872 ENSG00000023287 chr8:52642362-52642362;C/T missense_variant False RB1CC1@p.Q996H 1 0.295774648 ENSG00000023287 chr8:52656841-52656841;C/G missense_variant False RB1CC1@p.R214T 1 0.056818182 ENSG00000023287 chr8:52674206-52674206;C/G missense_variant False RB1CC1@p.R58T 1 0.148148148 ENSG00000023287 chr8:52683912-52683912;C/G missense_variant False RB1CC1@p.R823T 1 0.062015504 ENSG00000023287 chr8:52657361-52657361;C/G missense_variant False RB1CC1@p.S1279F 1 0.278688525 ENSG00000023287 chr8:52645853-52645853;G/A missense_variant False RB1CC1@p.S774N 1 0.565217391 ENSG00000023287 chr8:52657508-52657508;C/T missense_variant False RBAK@p.D527N 1 0.411111111 ENSG00000146587 chr7:5065035-5065035;G/A missense_variant False RBAK@p.D710H 1 0.155339806 ENSG00000146587 chr7:5065584-5065584;G/C missense_variant False RBAK@p.D96N 1 0.41509434 ENSG00000146587 chr7:5063742-5063742;G/A missense_variant False RBAK@p.E342D 1 0.277027027 ENSG00000146587 chr7:5064482-5064482;G/C missense_variant False RBAK@p.E377K 1 0.427350427 ENSG00000146587 chr7:5064585-5064585;G/A missense_variant False RBAK@p.E536D 1 0.476923077 ENSG00000146587 chr7:5065064-5065064;G/C missense_variant False RBAK@p.E550Q 1 0.25862069 ENSG00000146587 chr7:5065104-5065104;G/C missense_variant False RBAK@p.E592D 1 0.605263158 ENSG00000146587 chr7:5065232-5065232;G/C missense_variant False RB1@p.R828Nfs*5 1 0.5 ENSG00000139687 chr13:48465362-48465362;G/- frameshift_variant True RB1@p.Q395Tfs*11 1 0.288135593 ENSG00000139687 chr13:48373459-48373460;-/A frameshift_variant True RBAK@p.R702K 1 0.3125 ENSG00000146587 chr7:5065561-5065561;G/A missense_variant False RASSF9@p.L247I 1 0.19266055 ENSG00000198774 chr12:85805271-85805271;G/T missense_variant False RAVER2@p.G299D 1 0.413793103 ENSG00000162437 chr1:64781489-64781489;G/A missense_variant False RAVER1@p.G394S 1 0.095238095 ENSG00000161847 chr19:10321612-10321612;C/T missense_variant False RAVER1@p.E34K 1 0.155339806 ENSG00000161847 chr19:10333408-10333408;C/T missense_variant False RASSF9@p.T413N 1 0.283333333 ENSG00000198774 chr12:85804772-85804772;G/T missense_variant False RASSF9@p.R277Q 1 0.466101695 ENSG00000198774 chr12:85805180-85805180;C/T missense_variant False RASSF9@p.L70I 1 0.458715596 ENSG00000198774 chr12:85805802-85805802;G/T missense_variant False RASSF9@p.E342K 1 0.134615385 ENSG00000198774 chr12:85804986-85804986;C/T missense_variant False RB1@p.N328* 1 0.777777778 ENSG00000139687 chr13:48367533-48367534;AA/- frameshift_variant True RASSF9@p.D281H 1 0.114035088 ENSG00000198774 chr12:85805169-85805169;C/G missense_variant False RASSF8@p.Q278H 1 0.235955056 ENSG00000123094 chr12:26065228-26065228;A/T missense_variant False RASSF8@p.P114T 1 0.254658385 ENSG00000123094 chr12:26064734-26064734;C/A missense_variant False RASSF8@p.K167N 1 0.349206349 ENSG00000123094 chr12:26064895-26064895;G/C missense_variant False RASSF8@p.E204Q 1 0.106060606 ENSG00000123094 chr12:26065004-26065004;G/C missense_variant False RASSF8@p.E181K 1 0.35483871 ENSG00000123094 chr12:26064935-26064935;G/A missense_variant False RAVER2@p.L529F 1 0.107142857 ENSG00000162437 chr1:64807379-64807379;C/T missense_variant False RAX2@p.S56R 1 1.0 ENSG00000173976 chr19:3771577-3771577;T/G missense_variant False RB1@p.A74Efs*4 1 0.884615385 ENSG00000139687 chr13:48307352-48307353;-/AG frameshift_variant True RB1@p.C489Vfs*4 1 0.571428571 ENSG00000139687 chr13:48380206-48380207;-/T frameshift_variant True RB1@p.D270Rfs*6 1 0.279411765 ENSG00000139687 chr13:48362903-48362904;-/A frameshift_variant True RB1@p.D604G 1 0.285714286 ENSG00000139687 chr13:48453108-48453108;A/G missense_variant True RB1@p.E413Q 1 0.837398374 ENSG00000139687 chr13:48376939-48376939;G/C missense_variant True RB1@p.E492Lfs*4 1 0.311111111 ENSG00000139687 chr13:48380208-48380209;-/GC frameshift_variant True RB1@p.E79Rfs*32 1 0.188235294 ENSG00000139687 chr13:48307375-48307375;G/- frameshift_variant True RB1@p.G865V 1 0.378571429 ENSG00000139687 chr13:48476774-48476774;G/T missense_variant True RB1@p.G893A 1 0.307692308 ENSG00000139687 chr13:48477369-48477369;G/C missense_variant True RB1@p.I744Rfs*7 1 0.222222222 ENSG00000139687 chr13:48465015-48465024;GATCAAAGAA/- frameshift_variant True RB1@p.K143Sfs*2 1 0.586666667 ENSG00000139687 chr13:48345126-48345127;AA/- frameshift_variant True RB1@p.L191* 1 0.115384615 ENSG00000139687 chr13:48348987-48348987;C/- frameshift_variant True RB1@p.L596V 1 0.357142857 ENSG00000139687 chr13:48453083-48453083;C/G missense_variant True RB1@p.M708K 1 0.310344828 ENSG00000139687 chr13:48463747-48463747;T/A missense_variant True RB1@p.M761L 1 0.161290323 ENSG00000139687 chr13:48465067-48465067;A/C missense_variant True RBAK@p.G629E 1 0.480392157 ENSG00000146587 chr7:5065342-5065342;G/A missense_variant False RBAK@p.T303A 1 0.243589744 ENSG00000146587 chr7:5064363-5064363;A/G missense_variant False RASSF6@p.I226V 1 0.245901639 ENSG00000169435 chr4:73582278-73582278;T/C missense_variant False RBFA@p.E242K 1 0.23255814 ENSG00000101546 chr18:80045847-80045847;G/A missense_variant False RBIS@p.R82P 1 0.114942529 ENSG00000176731 chr8:85214618-85214618;C/G missense_variant False RBFOX2@p.D303H 1 0.050505051 ENSG00000100320 chr22:35761259-35761259;C/G missense_variant False RBFOX1@p.R388Q 1 0.108433735 ENSG00000078328 chr16:7710714-7710714;G/A missense_variant False RBFA@p.K42N 1 0.055793991 ENSG00000101546 chr18:80034621-80034621;G/C missense_variant False RBFA@p.E31K 1 0.4 ENSG00000101546 chr18:80034586-80034586;G/A missense_variant False RBFA@p.E287K 1 0.125 ENSG00000101546 chr18:80045982-80045982;G/A missense_variant False RBFA@p.D306N 1 0.311111111 ENSG00000101546 chr18:80046039-80046039;G/A missense_variant False RBBP8@p.K801Efs*14 1 0.2 ENSG00000101773 chr18:23016869-23016870;-/C frameshift_variant False RBCK1@p.E3K 1 0.571428571 ENSG00000125826 chr20:408764-408764;G/A missense_variant False RBBP9@p.S76F 1 0.154320988 ENSG00000089050 chr20:18493979-18493979;G/A missense_variant False RBBP8NL@p.S7L 1 0.333333333 ENSG00000130701 chr20:62419628-62419628;G/A missense_variant False RBBP8NL@p.E114K 1 0.1 ENSG00000130701 chr20:62416210-62416210;C/T missense_variant False RBBP8@p.S428F 1 0.55 ENSG00000101773 chr18:22993110-22993110;C/T missense_variant False RBBP8@p.P246L 1 0.323076923 ENSG00000101773 chr18:22989248-22989248;C/T missense_variant False RBKS@p.G39E 1 0.477272727 ENSG00000171174 chr2:27858545-27858545;C/T missense_variant False RBL1@p.D257H 1 0.257142857 ENSG00000080839 chr20:37066801-37066801;C/G missense_variant False RBL1@p.E287K 1 0.15625 ENSG00000080839 chr20:37065461-37065461;C/T missense_variant False RBL1@p.E9K 1 0.25 ENSG00000080839 chr20:37095904-37095904;C/T missense_variant False RBL1@p.F2L 1 0.545454545 ENSG00000080839 chr20:37095923-37095923;G/C missense_variant False RBL1@p.I1017M 1 0.213836478 ENSG00000080839 chr20:36998915-36998915;G/C missense_variant False RBL1@p.I937M 1 0.105263158 ENSG00000080839 chr20:37007471-37007471;T/C missense_variant False RBL1@p.L617V 1 0.189189189 ENSG00000080839 chr20:37040207-37040207;G/C missense_variant False RBL1@p.S581F 1 0.303797468 ENSG00000080839 chr20:37044114-37044114;G/A missense_variant False RBL2@p.D518H 1 0.709090909 ENSG00000103479 chr16:53462647-53462647;G/C missense_variant False RBL2@p.E361Kfs*9 1 0.4 ENSG00000103479 chr16:53454743-53454743;G/- frameshift_variant False RBL2@p.F1008L 1 0.683098592 ENSG00000103479 chr16:53480709-53480709;C/G missense_variant False RBL2@p.P272A 1 0.172413793 ENSG00000103479 chr16:53453499-53453499;C/G missense_variant False RBL2@p.P440Lfs*17 1 0.34375 ENSG00000103479 chr16:53459590-53459611;CAAGTGAGAAACTGGAACAGAT/- frameshift_variant False RBL2@p.S420F 1 0.263736264 ENSG00000103479 chr16:53459530-53459530;C/T missense_variant False RBL2@p.V762L 1 0.235294118 ENSG00000103479 chr16:53470421-53470421;G/C missense_variant False RBL2@p.V968F 1 0.222222222 ENSG00000103479 chr16:53480587-53480587;G/T missense_variant False RBBP8@p.M203I 1 0.142857143 ENSG00000101773 chr18:22984890-22984890;G/A missense_variant False RBBP8@p.E829Q 1 0.256198347 ENSG00000101773 chr18:23022159-23022159;G/C missense_variant False RBAK@p.V441M 1 0.371794872 ENSG00000146587 chr7:5064777-5064777;G/A missense_variant False RBBP5@p.Q183E 1 0.103448276 ENSG00000117222 chr1:205101685-205101685;G/C missense_variant False RBBP6@p.F314C 1 0.073529412 ENSG00000122257 chr16:24561705-24561705;T/G missense_variant False RBBP6@p.E858G 1 0.365384615 ENSG00000122257 chr16:24569263-24569263;A/G missense_variant False RBBP6@p.E1428D 1 0.305555556 ENSG00000122257 chr16:24571350-24571350;G/C missense_variant False RBBP6@p.E127K 1 0.150326797 ENSG00000122257 chr16:24555645-24555645;G/A missense_variant False RBBP6@p.D250H 1 0.266666667 ENSG00000122257 chr16:24559578-24559578;G/C missense_variant False RBBP6@p.D1302H 1 0.196969697 ENSG00000122257 chr16:24570970-24570970;G/C missense_variant False RBBP5@p.L185V 1 0.315789474 ENSG00000117222 chr1:205101679-205101679;G/C missense_variant False RBBP8@p.E751Q 1 0.42 ENSG00000101773 chr18:23001693-23001693;G/C missense_variant False RBBP5@p.H291Y 1 0.1953125 ENSG00000117222 chr1:205099946-205099946;G/A missense_variant False RBBP5@p.E238Q 1 0.096153846 ENSG00000117222 chr1:205100192-205100192;C/G missense_variant False RBBP4@p.M36I 1 0.056179775 ENSG00000162521 chr1:32652005-32652005;G/A missense_variant False RBBP4@p.G175E 1 0.4 ENSG00000162521 chr1:32668778-32668778;G/A missense_variant False RBBP4@p.E365K 1 0.3 ENSG00000162521 chr1:32672691-32672691;G/A missense_variant False RBBP4@p.D339N 1 0.404761905 ENSG00000162521 chr1:32672498-32672498;G/A missense_variant False RBBP6@p.K1126N 1 0.537037037 ENSG00000122257 chr16:24570068-24570068;G/C missense_variant False RBBP6@p.K1552E 1 0.25862069 ENSG00000122257 chr16:24571720-24571720;A/G missense_variant False RBBP6@p.K1668R 1 0.550458716 ENSG00000122257 chr16:24572069-24572069;A/G missense_variant False RBBP6@p.P566S 1 0.2 ENSG00000122257 chr16:24567249-24567249;C/T missense_variant False RBBP6@p.P593L 1 0.692307692 ENSG00000122257 chr16:24567331-24567331;C/T missense_variant False RBBP6@p.Q1374E 1 0.2 ENSG00000122257 chr16:24571186-24571186;C/G missense_variant False RBBP6@p.R1538T 1 0.230769231 ENSG00000122257 chr16:24571679-24571679;G/C missense_variant False RBBP6@p.S138C 1 0.283185841 ENSG00000122257 chr16:24555679-24555679;C/G missense_variant False RBBP6@p.S1532G 1 0.210526316 ENSG00000122257 chr16:24571660-24571660;A/G missense_variant False RBBP6@p.S1534Y 1 0.517241379 ENSG00000122257 chr16:24571667-24571667;C/A missense_variant False RBBP6@p.T1354A 1 0.134615385 ENSG00000122257 chr16:24571126-24571126;A/G missense_variant False RBBP7@p.D59H 1 0.390243902 ENSG00000102054 chrX:16863087-16863087;C/G missense_variant False RBBP7@p.E74K 1 0.425 ENSG00000102054 chrX:16863042-16863042;C/T missense_variant False RBBP7@p.Q134K 1 0.2 ENSG00000102054 chrX:16858757-16858757;G/T missense_variant False RBBP7@p.V110A 1 0.45 ENSG00000102054 chrX:16858828-16858828;A/G missense_variant False RBBP8@p.D427H 1 0.56 ENSG00000101773 chr18:22993106-22993106;G/C missense_variant False RBBP8@p.E510K 1 0.0625 ENSG00000101773 chr18:22993355-22993355;G/A missense_variant False RASSF7@p.S327F 1 0.285714286 ENSG00000099849 chr11:563424-563424;C/T missense_variant False RASSF6@p.E294K 1 0.097826087 ENSG00000169435 chr4:73576669-73576669;C/T missense_variant False RBM10@p.E820K 1 0.475 ENSG00000182872 chrX:47186092-47186092;G/A missense_variant False RASA2@p.E695K 1 0.103092784 ENSG00000155903 chr3:141608555-141608555;G/A missense_variant False RASA3@p.E627K 1 0.081967213 ENSG00000185989 chr13:113999638-113999638;C/T missense_variant False RASA3@p.E196K 1 0.090909091 ENSG00000185989 chr13:114027406-114027406;C/T missense_variant False RASA3@p.D84H 1 0.344827586 ENSG00000185989 chr13:114052079-114052079;C/G missense_variant False RASA3@p.A488V 1 0.702702703 ENSG00000185989 chr13:114013191-114013191;G/A missense_variant False RASA2@p.L658H 1 0.154929577 ENSG00000155903 chr3:141607717-141607717;T/A missense_variant False RASA2@p.E759K 1 0.098360656 ENSG00000155903 chr3:141609469-141609469;G/A missense_variant False RASA2@p.E249Q 1 0.31147541 ENSG00000155903 chr3:141558946-141558946;G/C missense_variant False RASA1@p.F301L 1 0.875 ENSG00000145715 chr5:87337977-87337977;C/A missense_variant False RASA2@p.E165D 1 0.326923077 ENSG00000155903 chr3:141540577-141540577;G/T missense_variant False RASA2@p.C170Y 1 0.096153846 ENSG00000155903 chr3:141540591-141540591;G/A missense_variant False RASA1@p.S219L 1 0.283783784 ENSG00000145715 chr5:87331464-87331464;C/T missense_variant False RASA1@p.S122L 1 0.228571429 ENSG00000145715 chr5:87268816-87268816;C/T missense_variant False RASA1@p.L692V 1 0.4 ENSG00000145715 chr5:87376455-87376455;C/G missense_variant False RASA1@p.L375V 1 0.177777778 ENSG00000145715 chr5:87349234-87349234;C/G missense_variant False RASA3@p.E731K 1 0.285714286 ENSG00000185989 chr13:113992539-113992539;C/T missense_variant False RASA3@p.S639Y 1 0.085106383 ENSG00000185989 chr13:113999601-113999601;G/T missense_variant False RASA4@p.G129R 1 0.266666667 ENSG00000105808 chr7:102605901-102605901;C/T missense_variant False RASAL1@p.D76Y 1 0.598853868 ENSG00000111344 chr12:113128075-113128075;C/A missense_variant False RASAL1@p.D783N 1 0.468085106 ENSG00000111344 chr12:113099997-113099997;C/T missense_variant False RASAL1@p.E276Q 1 0.459016393 ENSG00000111344 chr12:113115957-113115957;C/G missense_variant False RASAL1@p.E382Q 1 0.051282051 ENSG00000111344 chr12:113114837-113114837;C/G missense_variant False RASAL1@p.E755Q 1 0.111111111 ENSG00000111344 chr12:113100640-113100640;C/G missense_variant False RASAL1@p.R585H 1 0.131578947 ENSG00000111344 chr12:113105787-113105787;C/T missense_variant False RASAL1@p.R769T 1 0.235294118 ENSG00000111344 chr12:113100038-113100038;C/G missense_variant False RASAL1@p.S25N 1 0.8 ENSG00000111344 chr12:113130933-113130933;C/T missense_variant False RASAL2@p.D26N 1 0.625 ENSG00000075391 chr1:178094568-178094568;G/A missense_variant False RASAL2@p.D351N 1 0.258992806 ENSG00000075391 chr1:178445530-178445530;G/A missense_variant False RASAL2@p.D564H 1 0.066666667 ENSG00000075391 chr1:178454571-178454571;G/C missense_variant False RASAL2@p.D833Y 1 0.125 ENSG00000075391 chr1:178458212-178458212;G/T missense_variant False RASAL2@p.E356K 1 0.367231638 ENSG00000075391 chr1:178445545-178445545;G/A missense_variant False RASAL2@p.E406K 1 0.233870968 ENSG00000075391 chr1:178451603-178451603;G/A missense_variant False RASA1@p.L205Kfs*4 1 0.75 ENSG00000145715 chr5:87331417-87331421;TTATC/- frameshift_variant False RASA1@p.E857D 1 0.428571429 ENSG00000145715 chr5:87379818-87379818;G/C missense_variant False RASAL2@p.K185N 1 0.268817204 ENSG00000075391 chr1:178442746-178442746;G/T missense_variant False RARB@p.P56Vfs*6 1 0.206896552 ENSG00000077092 chr3:25174561-25174562;CC/- frameshift_variant False RARG@p.F314S 1 0.245283019 ENSG00000172819 chr12:53213573-53213573;A/G missense_variant False RARG@p.E327K 1 0.590909091 ENSG00000172819 chr12:53213535-53213535;C/T missense_variant False RARG@p.A315Gfs*4 1 0.170731707 ENSG00000172819 chr12:53213551-53213570;CAGGGGCAGGAGCTGCCCAG/- frameshift_variant False RARG@p.A234P 1 0.270588235 ENSG00000172819 chr12:53214172-53214172;C/G missense_variant False RARB@p.S68Y 1 0.24 ENSG00000077092 chr3:25461217-25461217;C/A missense_variant False RARB@p.S170L 1 0.385714286 ENSG00000077092 chr3:25569797-25569797;C/T missense_variant False RARB@p.K128N 1 0.098039216 ENSG00000077092 chr3:25501238-25501238;G/C missense_variant False RARS2@p.K125N 1 0.448979592 ENSG00000146282 chr6:87555428-87555428;C/A missense_variant False RARB@p.E176K 1 0.232142857 ENSG00000077092 chr3:25569814-25569814;G/A missense_variant False RARA@p.S232Y 1 0.052419355 ENSG00000131759 chr17:40352395-40352395;C/A missense_variant False RARA@p.R217C 1 0.436170213 ENSG00000131759 chr17:40352349-40352349;C/T missense_variant False RARA@p.N299S 1 0.172043011 ENSG00000131759 chr17:40354390-40354390;A/G missense_variant False RARA@p.E418K 1 0.142857143 ENSG00000131759 chr17:40356089-40356089;G/A missense_variant False RAPSN@p.E191Q 1 0.14084507 ENSG00000165917 chr11:47442775-47442775;C/G missense_variant False RARG@p.L321V 1 0.288888889 ENSG00000172819 chr12:53213553-53213553;G/C missense_variant False RARG@p.M286I 1 0.574257426 ENSG00000172819 chr12:53213656-53213656;C/G missense_variant False RARG@p.Q317Dfs*3 1 0.208333333 ENSG00000172819 chr12:53213550-53213566;CCAGGGGCAGGAGCTGC/- frameshift_variant False RARG@p.R369Q 1 0.424242424 ENSG00000172819 chr12:53213156-53213156;C/T missense_variant False RARG@p.S183Efs*50 1 0.221052632 ENSG00000172819 chr12:53214536-53214537;-/A frameshift_variant False RARG@p.V242A 1 0.225 ENSG00000172819 chr12:53214147-53214147;A/G missense_variant False RARG@p.Y279H 1 0.304347826 ENSG00000172819 chr12:53213679-53213679;A/G missense_variant False RARRES1@p.E270K 1 0.170731707 ENSG00000118849 chr3:158697755-158697755;C/T missense_variant False RARRES1@p.F132L 1 0.285714286 ENSG00000118849 chr3:158710877-158710877;G/C missense_variant False RARRES1@p.R109H 1 0.196850394 ENSG00000118849 chr3:158713810-158713810;C/T missense_variant False RARS1@p.D94H 1 0.75 ENSG00000113643 chr5:168492758-168492758;G/C missense_variant False RARS1@p.E583K 1 0.377622378 ENSG00000113643 chr5:168517936-168517936;G/A missense_variant False RARS1@p.E619D 1 0.19047619 ENSG00000113643 chr5:168518046-168518046;G/C missense_variant False RARS1@p.I404S 1 0.130434783 ENSG00000113643 chr5:168506174-168506174;T/G missense_variant False RARS1@p.I419V 1 0.431034483 ENSG00000113643 chr5:168506740-168506740;A/G missense_variant False RARS1@p.R59Q 1 0.55 ENSG00000113643 chr5:168488732-168488732;G/A missense_variant False RARS2@p.F5Lfs*10 1 0.243243243 ENSG00000146282 chr6:87589934-87589943;AGCGCGGCGA/- frameshift_variant False RASAL2@p.E528K 1 0.108433735 ENSG00000075391 chr1:178454463-178454463;G/A missense_variant False RASAL2@p.Q120R 1 0.452830189 ENSG00000075391 chr1:178300020-178300020;A/G missense_variant False RASSF6@p.E143Q 1 0.137931034 ENSG00000169435 chr4:73587891-73587891;C/G missense_variant False RASGRP3@p.E220D 1 0.148514851 ENSG00000152689 chr2:33524022-33524022;A/T missense_variant False RASIP1@p.P958A 1 0.372483221 ENSG00000105538 chr19:48720818-48720818;G/C missense_variant False RASIP1@p.P731S 1 0.474074074 ENSG00000105538 chr19:48724897-48724897;G/A missense_variant False RASIP1@p.E674Q 1 0.704918033 ENSG00000105538 chr19:48727010-48727010;C/G missense_variant False RASGRP3@p.V460D 1 0.208333333 ENSG00000152689 chr2:33543612-33543612;T/A missense_variant False RASGRP3@p.R97S 1 0.162291169 ENSG00000152689 chr2:33520605-33520605;C/A missense_variant False RASGRP3@p.R60Q 1 0.647058824 ENSG00000152689 chr2:33519957-33519957;G/A missense_variant False RASGRP3@p.E104K 1 0.172222222 ENSG00000152689 chr2:33520626-33520626;G/A missense_variant False RASGRF2@p.R735I 1 0.376068376 ENSG00000113319 chr5:81113654-81113654;G/T missense_variant False RASGRP2@p.R113Q 1 0.155555556 ENSG00000068831 chr11:64740981-64740981;C/T missense_variant False RASGRP2@p.Q448E 1 0.431372549 ENSG00000068831 chr11:64735182-64735182;G/C missense_variant False RASGRP1@p.L365M 1 0.4 ENSG00000172575 chr15:38507875-38507875;G/T missense_variant False RASGRP1@p.K188Q 1 0.454545455 ENSG00000172575 chr15:38516310-38516310;T/G missense_variant False RASGRP1@p.E739K 1 0.35 ENSG00000172575 chr15:38494426-38494426;C/T missense_variant False RASGRP1@p.E163K 1 0.583333333 ENSG00000172575 chr15:38518326-38518326;C/T missense_variant False RASIP1@p.S318L 1 0.257142857 ENSG00000105538 chr19:48735422-48735422;G/A missense_variant False RASL10A@p.W81C 1 0.346153846 ENSG00000100276 chr22:29313964-29313964;C/G missense_variant False RASL10B@p.V126M 1 0.391304348 ENSG00000270885 chr17:35741069-35741069;G/A missense_variant False RASL11B@p.E12K 1 0.205128205 ENSG00000128045 chr4:52862541-52862541;G/A missense_variant False RASL11B@p.Q103E 1 0.4 ENSG00000128045 chr4:52865365-52865365;C/G missense_variant False RASL12@p.E178K 1 0.205128205 ENSG00000103710 chr15:65055168-65055168;C/T missense_variant False RASSF10@p.D76Y 1 0.375 ENSG00000189431 chr11:13009802-13009802;G/T missense_variant False RASSF10@p.L385Q 1 0.307692308 ENSG00000189431 chr11:13010730-13010730;T/A missense_variant False RASSF1@p.I168M 1 0.226415094 ENSG00000068028 chr3:50331827-50331827;G/C missense_variant False RASSF2@p.E49K 1 0.56097561 ENSG00000101265 chr20:4795957-4795957;C/T missense_variant False RASSF2@p.H26Q 1 0.328125 ENSG00000101265 chr20:4798067-4798067;A/T missense_variant False RASSF2@p.R165T 1 0.114754098 ENSG00000101265 chr20:4790494-4790494;C/G missense_variant False RASSF3@p.E136K 1 0.112903226 ENSG00000153179 chr12:64688402-64688402;G/A missense_variant False RASSF3@p.I54M 1 0.234375 ENSG00000153179 chr12:64684837-64684837;C/G missense_variant False RASSF3@p.N200Tfs*14 1 0.16091954 ENSG00000153179 chr12:64694794-64694803;ATTTCTTGCG/- frameshift_variant False RASSF4@p.Q135E 1 0.448863636 ENSG00000107551 chr10:44984842-44984842;C/G missense_variant False RASSF5@p.R163C 1 0.15942029 ENSG00000266094 chr1:206538201-206538201;C/T missense_variant False RASGRF2@p.S604P 1 0.320754717 ENSG00000113319 chr5:81109050-81109050;T/C missense_variant False RASGRF2@p.Q2H 1 0.153846154 ENSG00000113319 chr5:80960744-80960744;G/C missense_variant False RASAL2@p.Q840H 1 0.360655738 ENSG00000075391 chr1:178458235-178458235;G/C missense_variant False RASAL3@p.P989S 1 0.553571429 ENSG00000105122 chr19:15451866-15451866;G/A missense_variant False RASEF@p.P481S 1 0.235294118 ENSG00000165105 chr9:83000567-83000567;G/A missense_variant False RASEF@p.E588Q 1 0.681978799 ENSG00000165105 chr9:82998408-82998408;C/G missense_variant False RASEF@p.D313N 1 0.173469388 ENSG00000165105 chr9:83009663-83009663;C/T missense_variant False RASD2@p.K120R 1 0.231292517 ENSG00000100302 chr22:35551590-35551590;A/G missense_variant False RASD2@p.E118Q 1 0.22 ENSG00000100302 chr22:35551583-35551583;G/C missense_variant False RASAL3@p.T991M 1 0.365853659 ENSG00000105122 chr19:15451859-15451859;G/A missense_variant False RASAL3@p.E946Q 1 0.288288288 ENSG00000105122 chr19:15452101-15452101;C/G missense_variant False RASGRF2@p.P878L 1 0.346666667 ENSG00000113319 chr5:81127110-81127110;C/T missense_variant False RASAL3@p.A771P 1 0.210526316 ENSG00000105122 chr19:15453466-15453466;C/G missense_variant False RASAL3@p.A534D 1 0.530612245 ENSG00000105122 chr19:15456224-15456224;G/T missense_variant False RASAL2@p.S87L 1 0.111111111 ENSG00000075391 chr1:178439451-178439451;C/T missense_variant False RASAL2@p.R853T 1 0.063291139 ENSG00000075391 chr1:178458273-178458273;G/C missense_variant False RASAL2@p.R705W 1 0.363636364 ENSG00000075391 chr1:178457828-178457828;C/T missense_variant False RASAL2@p.R127Q 1 0.065217391 ENSG00000075391 chr1:178300041-178300041;G/A missense_variant False RASEF@p.S118L 1 0.456521739 ENSG00000165105 chr9:83062515-83062515;G/A missense_variant False RASEF@p.S383C 1 0.538461538 ENSG00000165105 chr9:83004552-83004552;G/C missense_variant False RASGEF1A@p.D256G 1 0.3 ENSG00000198915 chr10:43199758-43199758;T/C missense_variant False RASGEF1A@p.D42N 1 0.434782609 ENSG00000198915 chr10:43205993-43205993;C/T missense_variant False RASGEF1A@p.E236Q 1 0.285714286 ENSG00000198915 chr10:43200232-43200232;C/G missense_variant False RASGEF1B@p.G354E 1 0.431034483 ENSG00000138670 chr4:81440877-81440877;C/T missense_variant False RASGEF1B@p.M285I 1 0.183908046 ENSG00000138670 chr4:81445599-81445599;C/A missense_variant False RASGEF1B@p.P6S 1 0.084507042 ENSG00000138670 chr4:81459493-81459493;G/A missense_variant False RASGEF1B@p.R282Q 1 0.297297297 ENSG00000138670 chr4:81445609-81445609;C/T missense_variant False RASGEF1C@p.D177Y 1 0.371428571 ENSG00000146090 chr5:180128520-180128520;C/A missense_variant False RASGEF1C@p.H85Y 1 0.258064516 ENSG00000146090 chr5:180137637-180137637;G/A missense_variant False RASGEF1C@p.R71G 1 0.325 ENSG00000146090 chr5:180137679-180137679;G/C missense_variant False RASGRF1@p.D1160N 1 0.416666667 ENSG00000058335 chr15:78980684-78980684;C/T missense_variant False RASGRF1@p.E821K 1 0.43373494 ENSG00000058335 chr15:79003838-79003838;C/T missense_variant False RASGRF1@p.R1176T 1 0.174603175 ENSG00000058335 chr15:78980635-78980635;C/G missense_variant False RASGRF1@p.T399M 1 0.52 ENSG00000058335 chr15:79031466-79031466;G/A missense_variant False RASGRF2@p.D327H 1 0.349056604 ENSG00000113319 chr5:81080607-81080607;G/C missense_variant False RBM10@p.E142K 1 0.818181818 ENSG00000182872 chrX:47171250-47171250;G/A missense_variant False RBM10@p.N214Kfs*2 1 0.363636364 ENSG00000182872 chrX:47176562-47176563;-/A frameshift_variant False RDH8@p.R307H 1 0.25 ENSG00000080511 chr19:10021673-10021673;G/A missense_variant False RBP2@p.E112K 1 0.1 ENSG00000114113 chr3:139454749-139454749;C/T missense_variant False RBP3@p.L1142V 1 0.372881356 ENSG00000265203 chr10:47357137-47357137;C/G missense_variant False RBP3@p.I475M 1 0.263157895 ENSG00000265203 chr10:47349909-47349909;C/G missense_variant False RBP3@p.G300A 1 0.166666667 ENSG00000265203 chr10:47349383-47349383;G/C missense_variant False RBP3@p.G161D 1 0.432692308 ENSG00000265203 chr10:47348966-47348966;G/A missense_variant False RBP3@p.D345N 1 0.162162162 ENSG00000265203 chr10:47349517-47349517;G/A missense_variant False RBP2@p.Q5H 1 0.203703704 ENSG00000114113 chr3:139476445-139476445;C/G missense_variant False RBP1@p.M120I 1 0.263513514 ENSG00000114115 chr3:139517675-139517675;C/T missense_variant False RBMXL1@p.R309H 1 0.454849498 ENSG00000213516 chr1:88982901-88982901;C/T missense_variant False RBP1@p.E19K 1 0.545454545 ENSG00000114115 chr3:139539478-139539478;C/T missense_variant False RBP1@p.E18K 1 0.380952381 ENSG00000114115 chr3:139539481-139539481;C/T missense_variant False RBMY1E@p.R407T 1 0.142857143 ENSG00000242389 chrY:21904167-21904167;C/G missense_variant False RBMY1E@p.P270A 1 0.238095238 ENSG00000242389 chrY:21906431-21906431;G/C missense_variant False RBMXL2@p.G339D 1 0.206896552 ENSG00000170748 chr11:7090136-7090136;G/A missense_variant False RBMXL2@p.E90K 1 0.25 ENSG00000170748 chr11:7089388-7089388;G/A missense_variant False RBP3@p.M146I 1 0.4625 ENSG00000265203 chr10:47348922-47348922;G/A missense_variant False RBP3@p.R267W 1 0.129032258 ENSG00000265203 chr10:47349283-47349283;C/T missense_variant False RBP3@p.V196M 1 0.456140351 ENSG00000265203 chr10:47349070-47349070;G/A missense_variant False RBP4@p.E31K 1 0.104477612 ENSG00000138207 chr10:93600938-93600938;C/T missense_variant False RBP4@p.R28Q 1 0.5 ENSG00000138207 chr10:93600946-93600946;C/T missense_variant False RBP4@p.S137F 1 0.394366197 ENSG00000138207 chr10:93593981-93593981;G/A missense_variant False RBP5@p.V67A 1 0.243243243 ENSG00000139194 chr12:7128292-7128292;A/G missense_variant False RBPJ@p.D278N 1 0.47826087 ENSG00000168214 chr4:26428765-26428765;G/A missense_variant False RBPJ@p.M87T 1 0.276595745 ENSG00000168214 chr4:26415540-26415540;T/C missense_variant False RBPJ@p.S465L 1 0.115789474 ENSG00000168214 chr4:26430898-26430898;C/T missense_variant False RBPJL@p.D34H 1 0.232758621 ENSG00000124232 chr20:45308220-45308220;G/C missense_variant False RBPJL@p.G178S 1 0.404761905 ENSG00000124232 chr20:45312308-45312308;G/A missense_variant False RBPJL@p.M457I 1 0.302631579 ENSG00000124232 chr20:45316776-45316776;G/A missense_variant False RBPMS2@p.A172V 1 0.315789474 ENSG00000166831 chr15:64748471-64748471;G/A missense_variant False RBPMS2@p.Y48F 1 0.292307692 ENSG00000166831 chr15:64751583-64751583;T/A missense_variant False RBSN@p.L437F 1 0.196721311 ENSG00000289750 chr3:15074826-15074826;C/G missense_variant False RBSN@p.L738P 1 0.145833333 ENSG00000289750 chr3:15073924-15073924;A/G missense_variant False RBMXL2@p.D259N 1 0.315068493 ENSG00000170748 chr11:7089895-7089895;G/A missense_variant False RBMXL1@p.R202G 1 0.214765101 ENSG00000213516 chr1:88983223-88983223;G/C missense_variant False RBSN@p.S654L 1 0.203296703 ENSG00000289750 chr3:15074176-15074176;G/A missense_variant False RBM6@p.L391V 1 0.234567901 ENSG00000004534 chr3:49968596-49968596;C/G missense_variant False RBM7@p.S185L 1 0.326923077 ENSG00000076053 chr11:114407560-114407560;C/T missense_variant False RBM7@p.S184C 1 0.06 ENSG00000076053 chr11:114407557-114407557;C/G missense_variant False RBM7@p.P49L 1 0.086956522 ENSG00000076053 chr11:114401747-114401747;C/T missense_variant False RBM7@p.F27L 1 0.090909091 ENSG00000076053 chr11:114400752-114400752;C/G missense_variant False RBM6@p.R780P 1 0.173076923 ENSG00000004534 chr3:50061207-50061207;G/C missense_variant False RBM6@p.P354S 1 0.142857143 ENSG00000004534 chr3:49968485-49968485;C/T missense_variant False RBM6@p.I458T 1 0.357142857 ENSG00000004534 chr3:49972108-49972108;T/C missense_variant False RBMXL1@p.R113K 1 0.285714286 ENSG00000213516 chr1:88983489-88983489;C/T missense_variant False RBM6@p.E921K 1 0.268292683 ENSG00000004534 chr3:50066320-50066320;G/A missense_variant False RBM6@p.E1084K 1 0.310344828 ENSG00000004534 chr3:50077011-50077011;G/A missense_variant False RBM6@p.D510N 1 0.27027027 ENSG00000004534 chr3:49999484-49999484;G/A missense_variant False RBM6@p.D408H 1 0.125 ENSG00000004534 chr3:49968647-49968647;G/C missense_variant False RBM6@p.D204A 1 0.206349206 ENSG00000004534 chr3:49968036-49968036;A/C missense_variant False RBM6@p.D164N 1 0.333333333 ENSG00000004534 chr3:49967915-49967915;G/A missense_variant False RBM8A@p.D91N 1 0.357894737 ENSG00000265241 chr1:145926553-145926553;C/T missense_variant False RBM8A@p.E19K 1 0.384615385 ENSG00000265241 chr1:145927372-145927372;C/T missense_variant False RBM8A@p.E82Q 1 0.95890411 ENSG00000265241 chr1:145926580-145926580;C/G missense_variant False RBM8A@p.R163Q 1 0.711538462 ENSG00000265241 chr1:145925919-145925919;C/T missense_variant False RBM8A@p.R172T 1 0.810344828 ENSG00000265241 chr1:145925892-145925892;C/G missense_variant False RBMS1@p.D260N 1 0.135802469 ENSG00000153250 chr2:160285023-160285023;C/T missense_variant False RBMS2@p.E186D 1 0.115555556 ENSG00000076067 chr12:56581199-56581199;G/C missense_variant False RBMS2@p.G49V 1 0.147058824 ENSG00000076067 chr12:56562496-56562496;G/T missense_variant False RBMS3@p.P291Lfs*26 1 0.333333333 ENSG00000144642 chr3:29897456-29897456;C/- frameshift_variant False RBMX2@p.R108Q 1 0.085714286 ENSG00000134597 chrX:130411367-130411367;G/A missense_variant False RBMX2@p.S57L 1 0.421052632 ENSG00000134597 chrX:130403850-130403850;C/T missense_variant False RBMX@p.D254H 1 0.4375 ENSG00000147274 chrX:136875280-136875280;C/G missense_variant False RBMX@p.H248R 1 0.3 ENSG00000147274 chrX:136875297-136875297;T/C missense_variant False RBMX@p.R381Q 1 0.273333333 ENSG00000147274 chrX:136874176-136874176;C/T missense_variant False RBMXL1@p.D254Y 1 0.455555556 ENSG00000213516 chr1:88983067-88983067;C/A missense_variant False RBMXL1@p.D75Y 1 0.239043825 ENSG00000213516 chr1:88983604-88983604;C/A missense_variant False RBMXL1@p.P7R 1 0.127659574 ENSG00000213516 chr1:88983807-88983807;G/C missense_variant False RBSN@p.R547W 1 0.088888889 ENSG00000289750 chr3:15074498-15074498;G/A missense_variant False RBX1@p.F81V 1 0.416666667 ENSG00000100387 chr22:40967811-40967811;T/G missense_variant False RBM5@p.S375L 1 0.108108108 ENSG00000003756 chr3:50108236-50108236;C/T missense_variant False RCOR1@p.S453C 1 0.561983471 ENSG00000089902 chr14:102722354-102722354;A/T missense_variant False RCOR3@p.E338Q 1 0.471264368 ENSG00000117625 chr1:211312830-211312830;G/C missense_variant False RCOR3@p.A311Lfs*9 1 0.188976378 ENSG00000117625 chr1:211312747-211312762;AAGCTATTGCAGATGT/- frameshift_variant False RCOR2@p.R182Q 1 0.571428571 ENSG00000167771 chr11:63914477-63914477;C/T missense_variant False RCOR2@p.E214Q 1 0.125 ENSG00000167771 chr11:63914296-63914296;C/G missense_variant False RCOR2@p.E214K 1 0.177419355 ENSG00000167771 chr11:63914296-63914296;C/T missense_variant False RCOR2@p.D218N 1 0.2 ENSG00000167771 chr11:63914284-63914284;C/T missense_variant False RCN2@p.E316K 1 0.173913043 ENSG00000117906 chr15:76949214-76949214;G/A missense_variant False RCC2@p.K510N 1 0.070967742 ENSG00000179051 chr1:17409129-17409129;C/G missense_variant False RCN2@p.E266K 1 0.34939759 ENSG00000117906 chr15:76948547-76948547;G/A missense_variant False RCN1@p.D128N 1 0.183673469 ENSG00000049449 chr11:32097271-32097271;G/A missense_variant False RCL1@p.E286K 1 0.180555556 ENSG00000120158 chr9:4844670-4844670;G/A missense_variant False RCE1@p.R70Q 1 0.3125 ENSG00000173653 chr11:66843782-66843782;G/A missense_variant False RCE1@p.L126F 1 0.513513514 ENSG00000173653 chr11:66844289-66844289;C/T missense_variant False RCCD1@p.R344C 1 0.952380952 ENSG00000166965 chr15:90961668-90961668;C/T missense_variant False RCOR3@p.P86L 1 0.52020202 ENSG00000117625 chr1:211276333-211276333;C/T missense_variant False RCOR3@p.T185I 1 0.379032258 ENSG00000117625 chr1:211289185-211289185;C/T missense_variant False RCSD1@p.D13E 1 0.265182186 ENSG00000198771 chr1:167683932-167683932;C/A missense_variant False RCSD1@p.P128L 1 0.133333333 ENSG00000198771 chr1:167694211-167694211;C/T missense_variant False RCVRN@p.E169V 1 0.156716418 ENSG00000109047 chr17:9898192-9898192;T/A missense_variant False RCVRN@p.S51N 1 0.3 ENSG00000109047 chr17:9905029-9905029;C/T missense_variant False RDH10@p.E103K 1 0.181818182 ENSG00000121039 chr8:73297211-73297211;G/A missense_variant False RDH10@p.E186Q 1 0.366412214 ENSG00000121039 chr8:73319126-73319126;G/C missense_variant False RDH10@p.E227K 1 0.395348837 ENSG00000121039 chr8:73320986-73320986;G/A missense_variant False RDH12@p.S90C 1 0.333333333 ENSG00000139988 chr14:67725180-67725180;C/G missense_variant False RDH12@p.T299R 1 0.5 ENSG00000139988 chr14:67733793-67733793;C/G missense_variant False RDH16@p.F209L 1 0.448275862 ENSG00000139547 chr12:56952936-56952936;G/C missense_variant False RDH16@p.P313R 1 0.68 ENSG00000139547 chr12:56952045-56952045;G/C missense_variant False RDH16@p.S74L 1 0.4 ENSG00000139547 chr12:56957242-56957242;G/A missense_variant False RDH16@p.T145S 1 0.488372093 ENSG00000139547 chr12:56955045-56955045;T/A missense_variant False RDH5@p.S38L 1 0.36 ENSG00000135437 chr12:55721297-55721297;C/T missense_variant False RDH8@p.K64N 1 0.214285714 ENSG00000080511 chr19:10017085-10017085;G/C missense_variant False RCCD1@p.I233M 1 0.131147541 ENSG00000166965 chr15:90959919-90959919;C/G missense_variant False RCC2@p.E448K 1 0.494382022 ENSG00000179051 chr1:17412166-17412166;C/T missense_variant False RC3H1@p.D806N 1 0.340909091 ENSG00000135870 chr1:173952093-173952093;C/T missense_variant False RC3H1@p.Q332H 1 0.158730159 ENSG00000135870 chr1:173978594-173978594;C/G missense_variant False RC3H1@p.R447C 1 0.228070175 ENSG00000135870 chr1:173965116-173965116;G/A missense_variant False RC3H1@p.R425T 1 0.343065693 ENSG00000135870 chr1:173970565-173970565;C/G missense_variant False RC3H1@p.R229I 1 0.458015267 ENSG00000135870 chr1:173982809-173982809;C/A missense_variant False RC3H1@p.Q932E 1 0.413793103 ENSG00000135870 chr1:173946780-173946780;G/C missense_variant False RC3H1@p.Q424H 1 0.180451128 ENSG00000135870 chr1:173970567-173970567;C/G missense_variant False RC3H1@p.Q405H 1 0.161290323 ENSG00000135870 chr1:173972515-173972515;C/A missense_variant False RC3H1@p.L459F 1 0.1 ENSG00000135870 chr1:173965078-173965078;C/G missense_variant False RCC1L@p.G363E 1 0.122340426 ENSG00000274523 chr7:75056044-75056044;C/T missense_variant False RC3H1@p.L171V 1 0.185185185 ENSG00000135870 chr1:173983499-173983499;G/C missense_variant False RC3H1@p.L1107V 1 0.316831683 ENSG00000135870 chr1:173938804-173938804;G/C missense_variant False RC3H1@p.K524Q 1 0.430656934 ENSG00000135870 chr1:173964885-173964885;T/G missense_variant False RC3H1@p.E794K 1 0.169811321 ENSG00000135870 chr1:173952129-173952129;C/T missense_variant False RC3H1@p.E710Q 1 0.23880597 ENSG00000135870 chr1:173961799-173961799;C/G missense_variant False RC3H1@p.E336K 1 0.25 ENSG00000135870 chr1:173978584-173978584;C/T missense_variant False RC3H1@p.R683K 1 0.915254237 ENSG00000135870 chr1:173961879-173961879;C/T missense_variant False RC3H1@p.R857T 1 0.230769231 ENSG00000135870 chr1:173947536-173947536;C/G missense_variant False RC3H1@p.S114N 1 0.5 ENSG00000135870 chr1:173984510-173984510;C/T missense_variant False RC3H1@p.S772C 1 0.082474227 ENSG00000135870 chr1:173961132-173961132;G/C missense_variant False RC3H2@p.D721H 1 0.377358491 ENSG00000056586 chr9:122858791-122858791;C/G missense_variant False RC3H2@p.Q1118H 1 0.240196078 ENSG00000056586 chr9:122851107-122851107;C/G missense_variant False RC3H2@p.Y618F 1 0.636363636 ENSG00000056586 chr9:122859099-122859099;T/A missense_variant False RCAN1@p.D219N 1 0.112244898 ENSG00000159200 chr21:34518188-34518188;C/T missense_variant False RCAN1@p.L132V 1 0.365591398 ENSG00000159200 chr21:34523569-34523569;G/C missense_variant False RCAN2@p.E73K 1 0.293103448 ENSG00000172348 chr6:46248767-46248767;C/T missense_variant False RCAN2@p.Q75R 1 0.080645161 ENSG00000172348 chr6:46248760-46248760;T/C missense_variant False RCBTB1@p.E452K 1 0.233333333 ENSG00000136144 chr13:49540977-49540977;C/T missense_variant False RCBTB1@p.R172Q 1 0.314814815 ENSG00000136144 chr13:49555603-49555603;C/T missense_variant False RCBTB2@p.A364T 1 0.318181818 ENSG00000136161 chr13:48502751-48502751;C/T missense_variant False RCBTB2@p.D534N 1 0.068493151 ENSG00000136161 chr13:48490167-48490167;C/T missense_variant False RCBTB2@p.K413N 1 0.107142857 ENSG00000136161 chr13:48501747-48501747;C/A missense_variant False RCC1@p.D128Y 1 0.155172414 ENSG00000180198 chr1:28532291-28532291;G/T missense_variant False RBM6@p.A475V 1 0.247311828 ENSG00000004534 chr3:49975333-49975333;C/T missense_variant False RBM5@p.S323L 1 0.297297297 ENSG00000003756 chr3:50107496-50107496;C/T missense_variant False RBM10@p.N599H 1 0.116883117 ENSG00000182872 chrX:47182171-47182171;A/C missense_variant False RBM17@p.E215K 1 0.152542373 ENSG00000134453 chr10:6110066-6110066;G/A missense_variant False RBM17@p.R163Q 1 0.357142857 ENSG00000134453 chr10:6106221-6106221;G/A missense_variant False RBM17@p.P82S 1 0.090909091 ENSG00000134453 chr10:6104934-6104934;C/T missense_variant False RBM17@p.K24Nfs*9 1 0.218045113 ENSG00000134453 chr10:6097135-6097135;A/- frameshift_variant False RBM17@p.G172E 1 0.404255319 ENSG00000134453 chr10:6108695-6108695;G/A missense_variant False RBM17@p.E320Q 1 0.074074074 ENSG00000134453 chr10:6114076-6114076;G/C missense_variant False RBM17@p.E268D 1 0.465116279 ENSG00000134453 chr10:6112309-6112309;G/C missense_variant False RBM15B@p.S132F 1 0.2 ENSG00000259956 chr3:51391794-51391794;C/T missense_variant False RBM15@p.N855S 1 0.489361702 ENSG00000162775 chr1:110341969-110341969;A/G missense_variant False RBM15B@p.E195K 1 0.863636364 ENSG00000259956 chr3:51391982-51391982;G/A missense_variant False RBM15B@p.D305N 1 0.363636364 ENSG00000259956 chr3:51392312-51392312;G/A missense_variant False RBM15@p.S365L 1 0.178571429 ENSG00000162775 chr1:110340499-110340499;C/T missense_variant False RBM15@p.S208L 1 0.25862069 ENSG00000162775 chr1:110340028-110340028;C/T missense_variant False RBM15@p.S158F 1 0.147058824 ENSG00000162775 chr1:110339878-110339878;C/T missense_variant False RBM15@p.R886S 1 0.47761194 ENSG00000162775 chr1:110342063-110342063;G/T missense_variant False RBM18@p.T5I 1 0.597014925 ENSG00000119446 chr9:122261479-122261479;G/A missense_variant False RBM19@p.E678K 1 0.113043478 ENSG00000122965 chr12:113937043-113937043;C/T missense_variant False RBM19@p.I480M 1 0.2 ENSG00000122965 chr12:113946443-113946443;G/C missense_variant False RBM19@p.L654V 1 0.196969697 ENSG00000122965 chr12:113937115-113937115;G/C missense_variant False RBM19@p.N331T 1 0.413043478 ENSG00000122965 chr12:113952520-113952520;T/G missense_variant False RBM19@p.R323Q 1 0.376237624 ENSG00000122965 chr12:113952544-113952544;C/T missense_variant False RBM19@p.S709F 1 0.5 ENSG00000122965 chr12:113927172-113927172;G/A missense_variant False RBM22@p.D191N 1 0.138461538 ENSG00000086589 chr5:150695681-150695681;C/T missense_variant False RBM22@p.Q13H 1 0.506849315 ENSG00000086589 chr5:150700947-150700947;C/G missense_variant False RBM23@p.D156H 1 0.290322581 ENSG00000100461 chr14:22905443-22905443;C/G missense_variant False RBM23@p.F186L 1 0.944444444 ENSG00000100461 chr14:22905351-22905351;G/T missense_variant False RBM23@p.R178W 1 0.164179104 ENSG00000100461 chr14:22905377-22905377;G/A missense_variant False RBM23@p.S362L 1 0.525423729 ENSG00000100461 chr14:22902228-22902228;G/A missense_variant False RBM25@p.E699K 1 0.318181818 ENSG00000119707 chr14:73111605-73111605;G/A missense_variant False RBM25@p.I648F 1 0.214285714 ENSG00000119707 chr14:73111080-73111080;A/T missense_variant False RBM25@p.K687N 1 0.34375 ENSG00000119707 chr14:73111571-73111571;G/C missense_variant False RBM25@p.P51T 1 0.430555556 ENSG00000119707 chr14:73076363-73076363;C/A missense_variant False RBM15@p.R325P 1 0.101694915 ENSG00000162775 chr1:110340379-110340379;G/C missense_variant False RBM15@p.H921Y 1 0.479166667 ENSG00000162775 chr1:110342166-110342166;C/T missense_variant False RBM25@p.S803L 1 0.368 ENSG00000119707 chr14:73114302-73114302;C/T missense_variant False RBM12@p.G795V 1 0.211538462 ENSG00000244462 chr20:35652939-35652939;C/A missense_variant False RBM12B@p.R883C 1 0.203208556 ENSG00000183808 chr8:93733764-93733764;G/A missense_variant False RBM12B@p.Q500H 1 0.2 ENSG00000183808 chr8:93734911-93734911;C/G missense_variant False RBM12B@p.L424Ffs*22 1 0.217741935 ENSG00000183808 chr8:93735138-93735141;GAAG/AAA frameshift_variant False RBM12B@p.L334V 1 0.085714286 ENSG00000183808 chr8:93735411-93735411;G/C missense_variant False RBM12B@p.E503Q 1 0.452941176 ENSG00000183808 chr8:93734904-93734904;C/G missense_variant False RBM12@p.P249L 1 0.092105263 ENSG00000244462 chr20:35654577-35654577;G/A missense_variant False RBM12@p.G651R 1 0.703389831 ENSG00000244462 chr20:35653372-35653372;C/G missense_variant False RBM15@p.E337Q 1 0.103448276 ENSG00000162775 chr1:110340414-110340414;G/C missense_variant False RBM12@p.E628Q 1 0.666666667 ENSG00000244462 chr20:35653441-35653441;C/G missense_variant False RBM10@p.S781L 1 0.454545455 ENSG00000182872 chrX:47185617-47185617;C/T missense_variant False RBM10@p.R766C 1 0.5 ENSG00000182872 chrX:47185571-47185571;C/T missense_variant False RBM10@p.R343C 1 0.347826087 ENSG00000182872 chrX:47180005-47180005;C/T missense_variant False RBM10@p.Q603Pfs*25 1 0.427350427 ENSG00000182872 chrX:47182181-47182182;-/C frameshift_variant False RBM10@p.P555Cfs*20 1 0.552631579 ENSG00000182872 chrX:47181835-47181839;CCCCA/- frameshift_variant False RBM12B@p.S375L 1 0.164705882 ENSG00000183808 chr8:93735287-93735287;G/A missense_variant False RBM12B@p.S501L 1 0.183333333 ENSG00000183808 chr8:93734909-93734909;G/A missense_variant False RBM12B@p.S68F 1 0.160714286 ENSG00000183808 chr8:93736208-93736208;G/A missense_variant False RBM14@p.D109H 1 0.287878788 ENSG00000239306 chr11:66617045-66617045;G/C missense_variant False RBM14@p.F22I 1 0.178571429 ENSG00000239306 chr11:66616784-66616784;T/A missense_variant False RBM14@p.F99L 1 0.10483871 ENSG00000239306 chr11:66617017-66617017;C/G missense_variant False RBM14@p.G459V 1 0.440972222 ENSG00000239306 chr11:66625252-66625252;G/T missense_variant False RBM14@p.R359C 1 0.340909091 ENSG00000239306 chr11:66624951-66624951;C/T missense_variant False RBM14@p.R541H 1 0.111842105 ENSG00000239306 chr11:66625498-66625498;G/A missense_variant False RBM14@p.S426C 1 0.133522727 ENSG00000239306 chr11:66625153-66625153;C/G missense_variant False RBM14@p.S560F 1 0.3125 ENSG00000239306 chr11:66625555-66625555;C/T missense_variant False RBM14@p.S87L 1 0.326530612 ENSG00000239306 chr11:66616980-66616980;C/T missense_variant False RBM14@p.Y645H 1 0.120879121 ENSG00000239306 chr11:66626591-66626591;T/C missense_variant False RBM15@p.A19G 1 0.416666667 ENSG00000162775 chr1:110339461-110339461;C/G missense_variant False RBM15@p.D868N 1 0.159090909 ENSG00000162775 chr1:110342007-110342007;G/A missense_variant False RBM15@p.D89N 1 0.377777778 ENSG00000162775 chr1:110339670-110339670;G/A missense_variant False RBM15@p.E337K 1 0.395348837 ENSG00000162775 chr1:110340414-110340414;G/A missense_variant False RBM25@p.R399K 1 0.552631579 ENSG00000119707 chr14:73105900-73105900;G/A missense_variant False RBM26@p.D393Mfs*14 1 0.222222222 ENSG00000139746 chr13:79366154-79366154;C/- frameshift_variant False RBM5@p.Q767Lfs*14 1 0.245762712 ENSG00000003756 chr3:50117354-50117355;-/TC frameshift_variant False RBM45@p.M83I 1 0.287234043 ENSG00000155636 chr2:178112795-178112795;G/A missense_variant False RBM47@p.D588N 1 0.32 ENSG00000163694 chr4:40425924-40425924;C/T missense_variant False RBM47@p.D293Y 1 0.13559322 ENSG00000163694 chr4:40438017-40438017;C/A missense_variant False RBM46@p.Y88H 1 0.188679245 ENSG00000151962 chr4:154797921-154797921;T/C missense_variant False RBM46@p.Q529E 1 0.182795699 ENSG00000151962 chr4:154828050-154828050;C/G missense_variant False RBM46@p.G505D 1 0.245967742 ENSG00000151962 chr4:154827979-154827979;G/A missense_variant False RBM45@p.R472W 1 0.426829268 ENSG00000155636 chr2:178126159-178126159;C/T missense_variant False RBM45@p.I269V 1 0.428571429 ENSG00000155636 chr2:178121305-178121305;A/G missense_variant False RBM42@p.R145W 1 0.414634146 ENSG00000126254 chr19:35631396-35631396;C/T missense_variant False RBM44@p.S94L 1 0.307692308 ENSG00000177483 chr2:237821802-237821802;C/T missense_variant False RBM43@p.L97F 1 0.189473684 ENSG00000184898 chr2:151252781-151252781;G/A missense_variant False RBM43@p.L247V 1 0.085714286 ENSG00000184898 chr2:151251241-151251241;G/C missense_variant False RBM43@p.L125V 1 0.282051282 ENSG00000184898 chr2:151251607-151251607;G/C missense_variant False RBM43@p.F67L 1 0.071428571 ENSG00000184898 chr2:151255546-151255546;G/C missense_variant False RBM42@p.V193M 1 0.42192691 ENSG00000126254 chr19:35633145-35633145;G/A missense_variant False RBM47@p.E123K 1 0.344827586 ENSG00000163694 chr4:40438527-40438527;C/T missense_variant False RBM47@p.E338K 1 0.568627451 ENSG00000163694 chr4:40437882-40437882;C/T missense_variant False RBM47@p.F154L 1 0.305263158 ENSG00000163694 chr4:40438432-40438432;G/C missense_variant False RBM47@p.I470M 1 0.366666667 ENSG00000163694 chr4:40432783-40432783;G/C missense_variant False RBM47@p.K190N 1 0.237113402 ENSG00000163694 chr4:40438324-40438324;C/G missense_variant False RBM47@p.S402F 1 0.317880795 ENSG00000163694 chr4:40436566-40436566;G/A missense_variant False RBM48@p.K134Nfs*9 1 0.18018018 ENSG00000127993 chr7:92532497-92532497;A/- frameshift_variant False RBM48@p.Q17H 1 0.7 ENSG00000127993 chr7:92528864-92528864;G/C missense_variant False RBM48@p.S268L 1 0.195121951 ENSG00000127993 chr7:92534756-92534756;C/T missense_variant False RBM4@p.A290_A295del 1 0.121019108 ENSG00000173933 chr11:66643905-66643922;GCAGCAGCCGCTGCTGCT/- inframe_deletion False RBM4@p.R349G 1 0.113636364 ENSG00000173933 chr11:66644082-66644082;C/G missense_variant False RBM4B@p.C89Y 1 0.297413793 ENSG00000173914 chr11:66676814-66676814;C/T missense_variant False RBM4B@p.M342I 1 0.306122449 ENSG00000173914 chr11:66668678-66668678;C/T missense_variant False RBM5@p.D357G 1 0.403846154 ENSG00000003756 chr3:50108098-50108098;A/G missense_variant False RBM5@p.D481Y 1 0.348837209 ENSG00000003756 chr3:50110756-50110756;G/T missense_variant False RBM5@p.E632D 1 0.081395349 ENSG00000003756 chr3:50115484-50115484;G/C missense_variant False RBM5@p.G781A 1 0.090909091 ENSG00000003756 chr3:50118350-50118350;G/C missense_variant False RBM42@p.S175C 1 0.31884058 ENSG00000126254 chr19:35633092-35633092;C/G missense_variant False RBM42@p.R139Q 1 0.226277372 ENSG00000126254 chr19:35631379-35631379;G/A missense_variant False RBM26@p.D992H 1 0.671052632 ENSG00000139746 chr13:79320671-79320671;C/G missense_variant False RBM26@p.R149C 1 0.517857143 ENSG00000139746 chr13:79371134-79371134;G/A missense_variant False RBM27@p.K168N 1 0.405405405 ENSG00000091009 chr5:146229825-146229825;G/C missense_variant False RBM27@p.G726E 1 0.203703704 ENSG00000091009 chr5:146261793-146261793;G/A missense_variant False RBM26@p.V320L 1 0.8125 ENSG00000139746 chr13:79366810-79366810;C/A missense_variant False RBM26@p.S852L 1 0.294117647 ENSG00000139746 chr13:79337280-79337280;G/A missense_variant False RBM26@p.S270I 1 0.365217391 ENSG00000139746 chr13:79368816-79368816;C/A missense_variant False RBM26@p.R295T 1 0.056451613 ENSG00000139746 chr13:79368741-79368741;C/G missense_variant False RBM26@p.R141C 1 0.072463768 ENSG00000139746 chr13:79371158-79371158;G/A missense_variant False RBM42@p.A62V 1 0.243902439 ENSG00000126254 chr19:35629576-35629576;C/T missense_variant False RBM26@p.Q920R 1 0.075862069 ENSG00000139746 chr13:79334405-79334405;T/C missense_variant False RBM26@p.N434S 1 0.105263158 ENSG00000139746 chr13:79365694-79365694;T/C missense_variant False RBM26@p.L851F 1 0.444444444 ENSG00000139746 chr13:79337284-79337284;G/A missense_variant False RBM26@p.L353F 1 0.32 ENSG00000139746 chr13:79366711-79366711;G/A missense_variant False RBM26@p.H263D 1 0.21875 ENSG00000139746 chr13:79368838-79368838;G/C missense_variant False RBM26@p.E970V 1 0.111111111 ENSG00000139746 chr13:79322374-79322374;T/A missense_variant False RBM27@p.K816Nfs*5 1 0.473684211 ENSG00000091009 chr5:146267757-146267757;A/- frameshift_variant False RBM27@p.R1056L 1 0.15942029 ENSG00000091009 chr5:146286014-146286014;G/T missense_variant False RBM27@p.R460Q 1 0.494897959 ENSG00000091009 chr5:146251810-146251810;G/A missense_variant False RBM27@p.S472L 1 0.092592593 ENSG00000091009 chr5:146251846-146251846;C/T missense_variant False RBM27@p.S499F 1 0.38 ENSG00000091009 chr5:146254994-146254994;C/T missense_variant False RBM27@p.S523F 1 0.307692308 ENSG00000091009 chr5:146255066-146255066;C/T missense_variant False RBM28@p.K162R 1 0.282758621 ENSG00000106344 chr7:128338306-128338306;T/C missense_variant False RBM28@p.Q475E 1 0.326086957 ENSG00000106344 chr7:128321406-128321406;G/C missense_variant False RBM28@p.S644C 1 0.265853659 ENSG00000106344 chr7:128314878-128314878;G/C missense_variant False RBM33@p.I1163R 1 0.274193548 ENSG00000184863 chr7:155775016-155775016;T/G missense_variant False RBM33@p.S408R 1 0.153846154 ENSG00000184863 chr7:155718407-155718407;C/G missense_variant False RBM34@p.I174M 1 0.32231405 ENSG00000188739 chr1:235154956-235154956;G/C missense_variant False RBM34@p.L409_T412del 1 0.098765432 ENSG00000188739 chr1:235131771-235131782;GTTTTAAGGAGA/- inframe_deletion False RBM39@p.E148K 1 0.172839506 ENSG00000131051 chr20:35725130-35725130;C/T missense_variant False RBM39@p.E170K 1 0.157232704 ENSG00000131051 chr20:35725064-35725064;C/T missense_variant False RBM39@p.E29K 1 0.875 ENSG00000131051 chr20:35738984-35738984;C/T missense_variant False RBM39@p.F426L 1 0.175257732 ENSG00000131051 chr20:35707149-35707149;G/C missense_variant False PEX1@p.K1251N 1 0.52 ENSG00000127980 chr7:92489307-92489307;C/A missense_variant False PDHA1@p.Y287H 1 0.0625 ENSG00000131828 chrX:19357679-19357679;T/C missense_variant False PEX1@p.D114N 1 0.129032258 ENSG00000127980 chr7:92519012-92519012;C/T missense_variant False NCKAP1L@p.R151W 1 0.336470588 ENSG00000123338 chr12:54508476-54508476;C/T missense_variant False NCKAP5@p.A486V 1 0.305785124 ENSG00000176771 chr2:132785354-132785354;G/A missense_variant False NCKAP5@p.A1838P 1 0.171755725 ENSG00000176771 chr2:132728884-132728884;C/G missense_variant False NCKAP5@p.A1271D 1 0.474358974 ENSG00000176771 chr2:132782999-132782999;G/T missense_variant False NCKAP1L@p.Y57H 1 0.066666667 ENSG00000123338 chr12:54499421-54499421;T/C missense_variant False NCKAP1L@p.W382L 1 0.5 ENSG00000123338 chr12:54517582-54517582;G/T missense_variant False NCKAP1L@p.S706C 1 0.126582278 ENSG00000123338 chr12:54523917-54523917;C/G missense_variant False NCKAP1L@p.L936V 1 0.14 ENSG00000123338 chr12:54532194-54532194;C/G missense_variant False NCKAP5@p.D1094N 1 0.311688312 ENSG00000176771 chr2:132783531-132783531;C/T missense_variant False NCKAP1L@p.L266V 1 0.180672269 ENSG00000123338 chr12:54511960-54511960;C/G missense_variant False NCKAP1L@p.E481Q 1 0.086956522 ENSG00000123338 chr12:54518934-54518934;G/C missense_variant False NCKAP1L@p.A839S 1 0.226720648 ENSG00000123338 chr12:54531268-54531268;G/T missense_variant False NCKAP1@p.S854R 1 0.227272727 ENSG00000061676 chr2:182952444-182952444;G/T missense_variant False NCKAP1@p.S561T 1 0.214285714 ENSG00000061676 chr2:182964756-182964756;A/T missense_variant False NCKAP1@p.R594C 1 0.536585366 ENSG00000061676 chr2:182962260-182962260;G/A missense_variant False NCKAP5@p.C540Y 1 0.203539823 ENSG00000176771 chr2:132785192-132785192;C/T missense_variant False NCKAP5@p.D1626H 1 0.076923077 ENSG00000176771 chr2:132781225-132781225;C/G missense_variant False NCOA7@p.T388I 1 0.352941176 ENSG00000111912 chr6:125889217-125889217;C/T missense_variant False NCKAP5@p.M1154I 1 0.244755245 ENSG00000176771 chr2:132783349-132783349;C/G missense_variant False NCKAP5L@p.A176S 1 0.636363636 ENSG00000167566 chr12:49797334-49797334;C/A missense_variant False NCKAP5@p.Y795C 1 0.403409091 ENSG00000176771 chr2:132784427-132784427;T/C missense_variant False NCKAP5@p.V1703A 1 0.381679389 ENSG00000176771 chr2:132773836-132773836;A/G missense_variant False NCKAP5@p.S341L 1 0.214285714 ENSG00000176771 chr2:132790093-132790093;G/A missense_variant False NCKAP5@p.Q1488H 1 0.095238095 ENSG00000176771 chr2:132782347-132782347;T/G missense_variant False NCKAP5@p.P1742A 1 0.16 ENSG00000176771 chr2:132731956-132731956;G/C missense_variant False NCKAP5@p.L96I 1 0.142857143 ENSG00000176771 chr2:133130033-133130033;G/T missense_variant False NCKAP5@p.D672H 1 0.36 ENSG00000176771 chr2:132784797-132784797;C/G missense_variant False NCKAP5@p.E711D 1 0.210884354 ENSG00000176771 chr2:132784678-132784678;C/A missense_variant False NCKAP5@p.E586K 1 0.118644068 ENSG00000176771 chr2:132785055-132785055;C/T missense_variant False NCKAP5@p.E562D 1 0.444444444 ENSG00000176771 chr2:132785125-132785125;C/G missense_variant False NCKAP5@p.E434K 1 0.183098592 ENSG00000176771 chr2:132785511-132785511;C/T missense_variant False NCKAP5@p.E1689K 1 0.145833333 ENSG00000176771 chr2:132773879-132773879;C/T missense_variant False NCKAP5@p.E148K 1 0.129310345 ENSG00000176771 chr2:132963857-132963857;C/T missense_variant False NCKAP1@p.L90V 1 0.181818182 ENSG00000061676 chr2:183003277-183003277;G/C missense_variant False NCKAP1@p.E828K 1 0.172413793 ENSG00000061676 chr2:182952814-182952814;C/T missense_variant False NCKAP1@p.D885H 1 0.353846154 ENSG00000061676 chr2:182942112-182942112;C/G missense_variant False NCBP3@p.I606V 1 0.37037037 ENSG00000074356 chr17:3813091-3813091;T/C missense_variant False NCDN@p.E37Q 1 0.210526316 ENSG00000020129 chr1:35559182-35559182;G/C missense_variant False NCDN@p.E30K 1 0.058333333 ENSG00000020129 chr1:35559161-35559161;G/A missense_variant False NCDN@p.D78H 1 0.060606061 ENSG00000020129 chr1:35560383-35560383;G/C missense_variant False NCCRP1@p.A202V 1 0.19379845 ENSG00000188505 chr19:39200402-39200402;C/T missense_variant False NCBP3@p.R386W 1 0.253246753 ENSG00000074356 chr17:3818417-3818417;G/A missense_variant False NCBP3@p.R310W 1 0.475 ENSG00000074356 chr17:3821321-3821321;G/A missense_variant False NCBP3@p.E571K 1 0.053333333 ENSG00000074356 chr17:3813196-3813196;C/T missense_variant False NCKAP1@p.C686F 1 0.232323232 ENSG00000061676 chr2:182956558-182956558;C/A missense_variant False NCBP2L@p.R27P 1 0.175438596 ENSG00000170935 chrX:107794300-107794300;G/C missense_variant False NCBP2L@p.L8Q 1 0.24137931 ENSG00000170935 chrX:107794243-107794243;T/A missense_variant False NCBP2@p.F83L 1 0.113924051 ENSG00000114503 chr3:196939262-196939262;G/C missense_variant False NCBP1@p.F130Y 1 0.428571429 ENSG00000136937 chr9:97645124-97645124;T/A missense_variant False NCBP1@p.A392V 1 0.192307692 ENSG00000136937 chr9:97654884-97654884;C/T missense_variant False NCAPH@p.T285M 1 0.21656051 ENSG00000121152 chr2:96351964-96351964;C/T missense_variant False NCEH1@p.D221N 1 0.458598726 ENSG00000144959 chr3:172635984-172635984;C/T missense_variant False NCEH1@p.E414Q 1 0.086330935 ENSG00000144959 chr3:172633582-172633582;C/G missense_variant False NCEH1@p.R224K 1 0.141414141 ENSG00000144959 chr3:172635974-172635974;C/T missense_variant False NCF2@p.E12K 1 0.372881356 ENSG00000116701 chr1:183590296-183590296;C/T missense_variant False NCF2@p.R397W 1 0.235714286 ENSG00000116701 chr1:183563296-183563296;G/A missense_variant False NCF2@p.V32I 1 0.424892704 ENSG00000116701 chr1:183590236-183590236;C/T missense_variant False NCF4@p.E258D 1 0.232876712 ENSG00000100365 chr22:36876044-36876044;G/C missense_variant False NCF4@p.I203M 1 0.294736842 ENSG00000100365 chr22:36872407-36872407;C/G missense_variant False NCF4@p.S79Cfs*47 1 0.140740741 ENSG00000100365 chr22:36865034-36865038;AGAGC/- frameshift_variant False NCK1@p.S320L 1 0.393939394 ENSG00000158092 chr3:136948278-136948278;C/T missense_variant False NCK1@p.T256N 1 0.396226415 ENSG00000158092 chr3:136946123-136946123;C/A missense_variant False NCK2@p.D128N 1 0.105263158 ENSG00000071051 chr2:105881483-105881483;G/A missense_variant False NCK2@p.E284Q 1 0.181818182 ENSG00000071051 chr2:105881951-105881951;G/C missense_variant False NCK2@p.G288R 1 0.064935065 ENSG00000071051 chr2:105881963-105881963;G/A missense_variant False NCK2@p.R183H 1 0.333333333 ENSG00000071051 chr2:105881649-105881649;G/A missense_variant False NCK2@p.S194F 1 0.485436893 ENSG00000071051 chr2:105881682-105881682;C/T missense_variant False NCKAP1@p.A221G 1 0.159090909 ENSG00000061676 chr2:182995780-182995780;G/C missense_variant False NCKAP5L@p.D852N 1 0.174107143 ENSG00000167566 chr12:49795306-49795306;C/T missense_variant False NCKAP5L@p.L1166V 1 0.2 ENSG00000167566 chr12:49792831-49792831;G/C missense_variant False NCKAP5L@p.L535P 1 0.235294118 ENSG00000167566 chr12:49796256-49796256;A/G missense_variant False NCOA4@p.E326Q 1 0.079207921 ENSG00000266412 chr10:46010945-46010945;C/G missense_variant False NCOA5@p.G498Vfs*22 1 0.304347826 ENSG00000124160 chr20:46062538-46062547;GGTCTGGGGC/- frameshift_variant False NCOA5@p.E331K 1 0.112676056 ENSG00000124160 chr20:46063519-46063519;C/T missense_variant False NCOA5@p.E243Q 1 0.196581197 ENSG00000124160 chr20:46065131-46065131;C/G missense_variant False NCOA5@p.D23N 1 0.288590604 ENSG00000124160 chr20:46070508-46070508;C/T missense_variant False NCOA5@p.D153N 1 0.221052632 ENSG00000124160 chr20:46068547-46068547;C/T missense_variant False NCOA4@p.L147V 1 0.239130435 ENSG00000266412 chr10:46014485-46014485;G/C missense_variant False NCOA4@p.E258Q 1 0.169230769 ENSG00000266412 chr10:46011149-46011149;C/G missense_variant False NCOA3@p.A213G 1 0.101449275 ENSG00000124151 chr20:47627666-47627666;C/G missense_variant False NCOA4@p.E107K 1 0.888888889 ENSG00000266412 chr10:46014906-46014906;C/T missense_variant False NCOA3@p.T103A 1 0.292682927 ENSG00000124151 chr20:47625431-47625431;A/G missense_variant False NCOA3@p.S841T 1 0.090909091 ENSG00000124151 chr20:47639017-47639017;G/C missense_variant False NCOA3@p.S662C 1 0.208053691 ENSG00000124151 chr20:47636371-47636371;C/G missense_variant False NCOA3@p.Q231E 1 0.303571429 ENSG00000124151 chr20:47627719-47627719;C/G missense_variant False NCOA3@p.I873M 1 0.247311828 ENSG00000124151 chr20:47639114-47639114;C/G missense_variant False NCOA5@p.L229F 1 0.339506173 ENSG00000124160 chr20:46065171-46065171;C/G missense_variant False NCOA5@p.M113I 1 0.402985075 ENSG00000124160 chr20:46070236-46070236;C/T missense_variant False NCOA6@p.D5H 1 0.212121212 ENSG00000198646 chr20:34782343-34782343;C/G missense_variant False NCOA6@p.E1242Q 1 0.418918919 ENSG00000198646 chr20:34742532-34742532;C/G missense_variant False NCOA6@p.K905N 1 0.218390805 ENSG00000198646 chr20:34749480-34749480;C/A missense_variant False NCOA6@p.M194I 1 0.179487179 ENSG00000198646 chr20:34758866-34758866;C/T missense_variant False NCOA6@p.M579I 1 0.356435644 ENSG00000198646 chr20:34750458-34750458;C/T missense_variant False NCOA6@p.P315Lfs*24 1 0.23 ENSG00000198646 chr20:34757804-34757804;G/- frameshift_variant False NCOA6@p.Q720E 1 0.133333333 ENSG00000198646 chr20:34750037-34750037;G/C missense_variant False NCOA6@p.Q952Kfs*82 1 0.164705882 ENSG00000198646 chr20:34746867-34746867;G/- frameshift_variant False NCOA6@p.R109L 1 0.144927536 ENSG00000198646 chr20:34776358-34776358;C/A missense_variant False NCOA6@p.R1986T 1 0.081395349 ENSG00000198646 chr20:34736695-34736695;C/G missense_variant False NCOA6@p.S1425I 1 0.13559322 ENSG00000198646 chr20:34741982-34741982;C/A missense_variant False NCOA6@p.S24L 1 0.211009174 ENSG00000198646 chr20:34782285-34782285;G/A missense_variant False NCOA7@p.D767H 1 0.527272727 ENSG00000111912 chr6:125920997-125920997;G/C missense_variant False NCOA7@p.D930N 1 0.379310345 ENSG00000111912 chr6:125928730-125928730;G/A missense_variant False NCOA7@p.E495K 1 0.153846154 ENSG00000111912 chr6:125889537-125889537;G/A missense_variant False NCOA3@p.D92N 1 0.586206897 ENSG00000124151 chr20:47625398-47625398;G/A missense_variant False NCOA2@p.S266L 1 0.160714286 ENSG00000140396 chr8:70163500-70163500;G/A missense_variant False NCKAP5L@p.P215A 1 0.529411765 ENSG00000167566 chr12:49797217-49797217;G/C missense_variant False NCMAP@p.E65K 1 0.597701149 ENSG00000184454 chr1:24605631-24605631;G/A missense_variant False NCOA1@p.E108Q 1 0.222222222 ENSG00000084676 chr2:24673431-24673431;G/C missense_variant False NCOA1@p.E108K 1 0.397435897 ENSG00000084676 chr2:24673431-24673431;G/A missense_variant False NCOA1@p.D91N 1 0.191176471 ENSG00000084676 chr2:24673380-24673380;G/A missense_variant False NCOA1@p.D290N 1 0.421875 ENSG00000084676 chr2:24697717-24697717;G/A missense_variant False NCOA1@p.A1235T 1 0.086956522 ENSG00000084676 chr2:24742183-24742183;G/A missense_variant False NCMAP@p.M58I 1 0.2 ENSG00000184454 chr1:24605612-24605612;G/A missense_variant False NCLN@p.E45Q 1 0.5 ENSG00000125912 chr19:3186163-3186163;G/C missense_variant False NCOA2@p.S1382N 1 0.64 ENSG00000140396 chr8:70124032-70124032;C/T missense_variant False NCL@p.Y463C 1 0.25 ENSG00000115053 chr2:231457702-231457702;T/C missense_variant False NCL@p.E585K 1 0.530612245 ENSG00000115053 chr2:231456089-231456089;C/T missense_variant False NCL@p.D166N 1 0.454545455 ENSG00000115053 chr2:231461657-231461657;C/T missense_variant False NCKIPSD@p.F604L 1 0.278688525 ENSG00000213672 chr3:48678717-48678717;G/C missense_variant False NCKAP5L@p.S641L 1 0.538461538 ENSG00000167566 chr12:49795938-49795938;G/A missense_variant False NCKAP5L@p.Q445E 1 0.52 ENSG00000167566 chr12:49796527-49796527;G/C missense_variant False NCOA1@p.E1441K 1 0.322580645 ENSG00000084676 chr2:24768386-24768386;G/A missense_variant False NCOA1@p.E306K 1 0.552631579 ENSG00000084676 chr2:24697765-24697765;G/A missense_variant False NCOA1@p.E832K 1 0.183333333 ENSG00000084676 chr2:24711006-24711006;G/A missense_variant False NCOA1@p.I983M 1 0.16080402 ENSG00000084676 chr2:24729563-24729563;C/G missense_variant False NCOA1@p.L115V 1 0.173469388 ENSG00000084676 chr2:24673452-24673452;C/G missense_variant False NCOA1@p.L1377V 1 0.167630058 ENSG00000084676 chr2:24762750-24762750;C/G missense_variant False NCOA1@p.L752V 1 0.391304348 ENSG00000084676 chr2:24707724-24707724;C/G missense_variant False NCOA1@p.M1315I 1 0.263157895 ENSG00000084676 chr2:24758036-24758036;G/C missense_variant False NCOA1@p.N387K 1 0.14893617 ENSG00000084676 chr2:24706631-24706631;T/A missense_variant False NCOA1@p.R1046K 1 0.325443787 ENSG00000084676 chr2:24729751-24729751;G/A missense_variant False NCOA1@p.R132K 1 0.376344086 ENSG00000084676 chr2:24682991-24682991;G/A missense_variant False NCOA1@p.V519I 1 0.234042553 ENSG00000084676 chr2:24707025-24707025;G/A missense_variant False NCOA2@p.L715V 1 0.154545455 ENSG00000140396 chr8:70156222-70156222;G/C missense_variant False NCOA2@p.R1290G 1 0.333333333 ENSG00000140396 chr8:70126861-70126861;G/C missense_variant False NCOA2@p.R81C 1 0.322580645 ENSG00000140396 chr8:70213921-70213921;G/A missense_variant False NCOA2@p.S1004C 1 0.084507042 ENSG00000140396 chr8:70141201-70141201;G/C missense_variant False NCOA2@p.S12Y 1 0.117346939 ENSG00000140396 chr8:70216711-70216711;G/T missense_variant False NCAPH@p.T282S 1 0.137614679 ENSG00000121152 chr2:96351954-96351954;A/T missense_variant False NCAPH2@p.P164S 1 0.289473684 ENSG00000025770 chr22:50518042-50518042;C/T missense_variant False NCAPG@p.P172T 1 0.166666667 ENSG00000109805 chr4:17813115-17813115;C/A missense_variant False NBN@p.I162V 1 0.16 ENSG00000104320 chr8:89978320-89978320;T/C missense_variant False NBPF11@p.D562N 1 0.054545455 ENSG00000263956 chr1:148110495-148110495;C/T missense_variant False NBPF11@p.C334Y 1 0.033222591 ENSG00000263956 chr1:148118710-148118710;C/T missense_variant False NBPF11@p.A155E 1 0.062068966 ENSG00000263956 chr1:148123882-148123882;G/T missense_variant False NBPF10@p.E361K 1 0.059027778 ENSG00000271425 chr1:146136363-146136363;C/T missense_variant False NBN@p.S499L 1 0.122807018 ENSG00000104320 chr8:89953593-89953593;G/A missense_variant False NBN@p.R43Q 1 0.40625 ENSG00000104320 chr8:89982765-89982765;C/T missense_variant False NBN@p.H712Y 1 0.563636364 ENSG00000104320 chr8:89943303-89943303;G/A missense_variant False NBEAL2@p.R2622H 1 0.177777778 ENSG00000160796 chr3:47008428-47008428;G/A missense_variant False NBN@p.E510Q 1 0.525 ENSG00000104320 chr8:89953561-89953561;C/G missense_variant False NBN@p.E379K 1 0.113636364 ENSG00000104320 chr8:89955545-89955545;C/T missense_variant False NBN@p.E36A 1 0.220858896 ENSG00000104320 chr8:89982786-89982786;T/G missense_variant False NBN@p.E194K 1 0.051020408 ENSG00000104320 chr8:89978224-89978224;C/T missense_variant False NBN@p.E109K 1 0.192307692 ENSG00000104320 chr8:89980889-89980889;C/T missense_variant False NBEAL2@p.V2069I 1 0.924528302 ENSG00000160796 chr3:47004501-47004501;G/A missense_variant False NBPF11@p.G487D 1 0.40990991 ENSG00000263956 chr1:148115918-148115918;C/T missense_variant False NBPF11@p.R41T 1 0.075471698 ENSG00000263956 chr1:148126882-148126882;C/G missense_variant False NBPF11@p.S516C 1 0.061752988 ENSG00000263956 chr1:148115831-148115831;G/C missense_variant False NBPF11@p.V556F 1 0.393188854 ENSG00000263956 chr1:148110513-148110513;C/A missense_variant False NBPF14@p.G2983A 1 0.388888889 ENSG00000270629 chr1:148533024-148533024;C/G missense_variant False NBPF15@p.G374S 1 0.158333333 ENSG00000266338 chr1:144427911-144427911;C/T missense_variant False NBPF15@p.G665E 1 0.316483516 ENSG00000266338 chr1:144423032-144423032;C/T missense_variant False NBPF15@p.R629K 1 0.25 ENSG00000266338 chr1:144423140-144423140;C/T missense_variant False NBPF1@p.D253Y 1 0.106382979 ENSG00000219481 chr1:16587071-16587071;C/A missense_variant False NBPF1@p.D744V 1 0.116071429 ENSG00000219481 chr1:16574654-16574654;T/A missense_variant False NBPF1@p.E172K 1 0.185950413 ENSG00000219481 chr1:16587777-16587777;C/T missense_variant False NBPF1@p.E245Q 1 0.184600197 ENSG00000219481 chr1:16587095-16587095;C/G missense_variant False NBPF1@p.E503Q 1 0.057627119 ENSG00000219481 chr1:16580829-16580829;C/G missense_variant False NBPF1@p.E90Q 1 0.090517241 ENSG00000219481 chr1:16589909-16589909;C/G missense_variant False NBPF1@p.H224D 1 0.069444444 ENSG00000219481 chr1:16587158-16587158;G/C missense_variant False NBPF26@p.D1117Y 1 0.094986807 ENSG00000273136 chr1:120832961-120832961;G/T missense_variant False NBPF26@p.H779D 1 0.17699115 ENSG00000273136 chr1:120816791-120816791;C/G missense_variant False NBEAL2@p.S2635L 1 0.195488722 ENSG00000160796 chr3:47008545-47008545;C/T missense_variant False NBEAL2@p.M313I 1 0.296296296 ENSG00000160796 chr3:46991853-46991853;G/A missense_variant False NBPF3@p.D347N 1 0.242798354 ENSG00000142794 chr1:21478190-21478190;G/A missense_variant False NBEA@p.L2828F 1 0.126760563 ENSG00000172915 chr13:35667456-35667456;G/C missense_variant False NBEAL1@p.E2258Q 1 0.296 ENSG00000144426 chr2:203190327-203190327;G/C missense_variant False NBEAL1@p.E1500Q 1 0.255319149 ENSG00000144426 chr2:203138181-203138181;G/C missense_variant False NBEA@p.T2103M 1 0.444444444 ENSG00000172915 chr13:35452095-35452095;C/T missense_variant False NBEA@p.S2743C 1 0.128787879 ENSG00000172915 chr13:35655678-35655678;C/G missense_variant False NBEA@p.R2083C 1 0.2 ENSG00000172915 chr13:35432336-35432336;C/T missense_variant False NBEA@p.P1530L 1 0.266666667 ENSG00000172915 chr13:35177030-35177030;C/T missense_variant False NBEA@p.L2024V 1 0.303030303 ENSG00000172915 chr13:35352214-35352214;C/G missense_variant False NBEAL2@p.I2280T 1 0.059701493 ENSG00000160796 chr3:47005983-47005983;T/C missense_variant False NBEA@p.K1796N 1 0.484848485 ENSG00000172915 chr13:35208721-35208721;G/T missense_variant False NBEA@p.I1978V 1 0.15942029 ENSG00000172915 chr13:35349136-35349136;A/G missense_variant False NBEA@p.E1506Kfs*6 1 0.178571429 ENSG00000172915 chr13:35173555-35173555;G/- frameshift_variant False NBEA@p.E1265K 1 0.846153846 ENSG00000172915 chr13:35159964-35159964;G/A missense_variant False NBEA@p.D1042H 1 0.261904762 ENSG00000172915 chr13:35159295-35159295;G/C missense_variant False NBAS@p.S339L 1 0.387096774 ENSG00000151779 chr2:15488961-15488961;G/A missense_variant False NBEAL1@p.E2560K 1 0.096774194 ENSG00000144426 chr2:203209302-203209302;G/A missense_variant False NBEAL1@p.I2434M 1 0.095238095 ENSG00000144426 chr2:203201693-203201693;C/G missense_variant False NBEAL1@p.I2621M 1 0.119047619 ENSG00000144426 chr2:203213533-203213533;C/G missense_variant False NBEAL1@p.K1800M 1 0.1875 ENSG00000144426 chr2:203151488-203151488;A/T missense_variant False NBEAL1@p.K2568N 1 0.25 ENSG00000144426 chr2:203210963-203210963;G/C missense_variant False NBEAL1@p.L1829F 1 0.212765957 ENSG00000144426 chr2:203151576-203151576;G/C missense_variant False NBEAL1@p.L2643V 1 0.213483146 ENSG00000144426 chr2:203213597-203213597;C/G missense_variant False NBEAL1@p.M1549I 1 0.183908046 ENSG00000144426 chr2:203138634-203138634;G/C missense_variant False NBEAL1@p.Q2275E 1 0.311111111 ENSG00000144426 chr2:203190378-203190378;C/G missense_variant False NBEAL1@p.Q2378L 1 0.061068702 ENSG00000144426 chr2:203199429-203199429;A/T missense_variant False NBEAL1@p.S1336F 1 0.109090909 ENSG00000144426 chr2:203135957-203135957;C/T missense_variant False NBEAL1@p.S1380P 1 0.2 ENSG00000144426 chr2:203136088-203136088;T/C missense_variant False NBEAL1@p.S1532L 1 0.394736842 ENSG00000144426 chr2:203138278-203138278;C/T missense_variant False NBEAL2@p.A649T 1 0.095238095 ENSG00000160796 chr3:46995760-46995760;G/A missense_variant False NBEAL2@p.E165K 1 0.875 ENSG00000160796 chr3:46989530-46989530;G/A missense_variant False NBEAL2@p.E1940K 1 0.36 ENSG00000160796 chr3:47003913-47003913;G/A missense_variant False NBEAL2@p.E1989Q 1 0.208333333 ENSG00000160796 chr3:47004160-47004160;G/C missense_variant False NBPF3@p.D174H 1 0.303303303 ENSG00000142794 chr1:21471642-21471642;G/C missense_variant False NBPF3@p.E337Q 1 0.165975104 ENSG00000142794 chr1:21478160-21478160;G/C missense_variant False NCAPG@p.G215V 1 0.428571429 ENSG00000109805 chr4:17814952-17814952;G/T missense_variant False NCAN@p.R482H 1 0.125 ENSG00000130287 chr19:19226858-19226858;G/A missense_variant False NCAPD2@p.L231F 1 0.35326087 ENSG00000010292 chr12:6514370-6514370;G/C missense_variant False NCAPD2@p.I278V 1 0.507042254 ENSG00000010292 chr12:6514580-6514580;A/G missense_variant False NCAPD2@p.I244M 1 0.450549451 ENSG00000010292 chr12:6514480-6514480;C/G missense_variant False NCAPD2@p.I1259M 1 0.512396694 ENSG00000010292 chr12:6529898-6529898;C/G missense_variant False NCAPD2@p.A709D 1 0.205882353 ENSG00000010292 chr12:6522999-6522999;C/A missense_variant False NCAN@p.S831Y 1 0.442105263 ENSG00000130287 chr19:19228112-19228112;C/A missense_variant False NCAN@p.R193G 1 0.20754717 ENSG00000130287 chr19:19224122-19224122;C/G missense_variant False NCAM2@p.P417S 1 0.333333333 ENSG00000154654 chr21:21410327-21410327;C/T missense_variant False NCAN@p.P433L 1 0.155555556 ENSG00000130287 chr19:19226711-19226711;C/T missense_variant False NCAN@p.L684F 1 0.113924051 ENSG00000130287 chr19:19227672-19227672;G/C missense_variant False NCAN@p.H360Y 1 0.101449275 ENSG00000130287 chr19:19226491-19226491;C/T missense_variant False NCAN@p.D866N 1 0.191489362 ENSG00000130287 chr19:19228216-19228216;G/A missense_variant False NCAM2@p.Y184H 1 0.402777778 ENSG00000154654 chr21:21292172-21292172;T/C missense_variant False NCAM2@p.P816Q 1 0.166666667 ENSG00000154654 chr21:21537890-21537890;C/A missense_variant False NCAPD2@p.L769V 1 0.394736842 ENSG00000010292 chr12:6525673-6525673;C/G missense_variant False NCAPD2@p.M1116I 1 0.35483871 ENSG00000010292 chr12:6528727-6528727;G/T missense_variant False NCAPD2@p.Q394H 1 0.163265306 ENSG00000010292 chr12:6517022-6517022;G/C missense_variant False NCAPD2@p.Q463H 1 0.129032258 ENSG00000010292 chr12:6517664-6517664;G/C missense_variant False NCAPD2@p.R1173C 1 0.158878505 ENSG00000010292 chr12:6528984-6528984;C/T missense_variant False NCAPD2@p.R390Q 1 0.450819672 ENSG00000010292 chr12:6517009-6517009;G/A missense_variant False NCAPD3@p.D1274H 1 0.178571429 ENSG00000151503 chr11:134159939-134159939;C/G missense_variant False NCAPD3@p.E553K 1 0.140186916 ENSG00000151503 chr11:134194697-134194697;C/T missense_variant False NCAPD3@p.E900D 1 0.6 ENSG00000151503 chr11:134178716-134178716;C/A missense_variant False NCAPD3@p.I1354V 1 0.040650407 ENSG00000151503 chr11:134158042-134158042;T/C missense_variant False NCAPD3@p.K442R 1 0.422680412 ENSG00000151503 chr11:134203797-134203797;T/C missense_variant False NCAPD3@p.P1475S 1 0.239130435 ENSG00000151503 chr11:134153018-134153018;G/A missense_variant False NCAPD3@p.Y1226C 1 0.128571429 ENSG00000151503 chr11:134161788-134161788;T/C missense_variant False NCAPG2@p.E5Q 1 0.051282051 ENSG00000146918 chr7:158701887-158701887;C/G missense_variant False NCAPG2@p.E765K 1 0.277777778 ENSG00000146918 chr7:158656355-158656355;C/T missense_variant False NCAPG2@p.V1007Sfs*8 1 0.327272727 ENSG00000146918 chr7:158650874-158650889;CAGAGTAGAAAGTACA/- frameshift_variant False NCAPG2@p.V544M 1 0.326923077 ENSG00000146918 chr7:158664600-158664600;C/T missense_variant False NCAM2@p.P499S 1 0.111111111 ENSG00000154654 chr21:21432122-21432122;C/T missense_variant False NCAM2@p.M213T 1 0.408163265 ENSG00000154654 chr21:21324401-21324401;T/C missense_variant False NBPF3@p.G62S 1 0.081081081 ENSG00000142794 chr1:21468738-21468738;G/A missense_variant False NBR1@p.D142H 1 0.254716981 ENSG00000188554 chr17:43189063-43189063;G/C missense_variant False NBR1@p.Q45E 1 0.088235294 ENSG00000188554 chr17:43177966-43177966;C/G missense_variant False NBR1@p.M398I 1 0.303030303 ENSG00000188554 chr17:43193214-43193214;G/A missense_variant False NBR1@p.L821Rfs*43 1 0.276119403 ENSG00000188554 chr17:43200602-43200602;T/- frameshift_variant False NBR1@p.I58M 1 0.080645161 ENSG00000188554 chr17:43179402-43179402;C/G missense_variant False NBR1@p.E637K 1 0.14893617 ENSG00000188554 chr17:43196989-43196989;G/A missense_variant False NBR1@p.D382N 1 0.461538462 ENSG00000188554 chr17:43193164-43193164;G/A missense_variant False NBPF9@p.E40D 1 0.088305489 ENSG00000269713 chr1:149082020-149082020;C/G missense_variant False NCAM2@p.I85M 1 0.363013699 ENSG00000154654 chr21:21284318-21284318;A/G missense_variant False NBPF3@p.R284K 1 0.170833333 ENSG00000142794 chr1:21473496-21473496;G/A missense_variant False NBPF3@p.R201Q 1 0.094017094 ENSG00000142794 chr1:21471724-21471724;G/A missense_variant False NBPF3@p.Q96H 1 1.0 ENSG00000142794 chr1:21468842-21468842;G/T missense_variant False NBPF3@p.Q102E 1 1.0 ENSG00000142794 chr1:21468858-21468858;C/G missense_variant False NBPF3@p.L162P 1 0.076923077 ENSG00000142794 chr1:21471607-21471607;T/C missense_variant False NBPF3@p.H302N 1 0.241286863 ENSG00000142794 chr1:21473549-21473549;C/A missense_variant False NBR1@p.R670G 1 0.458333333 ENSG00000188554 chr17:43197088-43197088;A/G missense_variant False NBR1@p.S21C 1 0.411764706 ENSG00000188554 chr17:43175861-43175861;C/G missense_variant False NBR1@p.S276C 1 0.434782609 ENSG00000188554 chr17:43190740-43190740;C/G missense_variant False NCAM1@p.D334N 1 0.4 ENSG00000149294 chr11:113214452-113214452;G/A missense_variant False NCAM1@p.E261Q 1 0.166666667 ENSG00000149294 chr11:113207867-113207867;G/C missense_variant False NCAM1@p.E681K 1 0.090909091 ENSG00000149294 chr11:113260233-113260233;G/A missense_variant False NCAM1@p.S36F 1 0.2 ENSG00000149294 chr11:113202433-113202433;C/T missense_variant False NCAM1@p.S443Vfs*34 1 0.3 ENSG00000149294 chr11:113232253-113232253;C/- frameshift_variant False NCAM1@p.Y84C 1 0.162162162 ENSG00000149294 chr11:113204409-113204409;A/G missense_variant False NCAM2@p.D826N 1 0.37254902 ENSG00000154654 chr21:21537919-21537919;G/A missense_variant False NCAM2@p.D834H 1 0.128205128 ENSG00000154654 chr21:21537943-21537943;G/C missense_variant False NCAM2@p.E153K 1 0.130952381 ENSG00000154654 chr21:21286388-21286388;G/A missense_variant False NCAM2@p.E777K 1 0.170731707 ENSG00000154654 chr21:21534583-21534583;G/A missense_variant False NCAM2@p.G100R 1 0.138888889 ENSG00000154654 chr21:21284361-21284361;G/C missense_variant False NCAM2@p.G455E 1 0.117647059 ENSG00000154654 chr21:21410442-21410442;G/A missense_variant False NCAM2@p.G524S 1 0.448275862 ENSG00000154654 chr21:21432197-21432197;G/A missense_variant False NCAM2@p.G700W 1 0.272727273 ENSG00000154654 chr21:21508871-21508871;G/T missense_variant False NCOA7@p.S916C 1 0.253623188 ENSG00000111912 chr6:125928689-125928689;C/G missense_variant False NCOA7@p.W804C 1 0.796296296 ENSG00000111912 chr6:125922723-125922723;G/C missense_variant False MYO5A@p.M1624I 1 0.491525424 ENSG00000197535 chr15:52321363-52321363;C/G missense_variant False NEB@p.L4522M 1 0.204 ENSG00000183091 chr2:151563632-151563632;G/T missense_variant False NEB@p.R3016Q 1 0.1375 ENSG00000183091 chr2:151629594-151629594;C/T missense_variant False NEB@p.Q6208H 1 0.131736527 ENSG00000183091 chr2:151505493-151505493;C/G missense_variant False NEB@p.Q3136H 1 0.05952381 ENSG00000183091 chr2:151627529-151627529;C/G missense_variant False NEB@p.Q2903R 1 0.796296296 ENSG00000183091 chr2:151640038-151640038;T/C missense_variant False NEB@p.L5478V 1 0.2 ENSG00000183091 chr2:151531089-151531089;A/C missense_variant False NEB@p.L5195V 1 0.372093023 ENSG00000183091 chr2:151540798-151540798;G/C missense_variant False NEB@p.L3960V 1 0.251533742 ENSG00000183091 chr2:151575727-151575727;G/C missense_variant False NEB@p.R5765H 1 0.288 ENSG00000183091 chr2:151524393-151524393;C/T missense_variant False NEB@p.L3258F 1 0.380952381 ENSG00000183091 chr2:151620976-151620976;C/G missense_variant False NEB@p.L2949V 1 0.379310345 ENSG00000183091 chr2:151639901-151639901;G/C missense_variant False NEB@p.L2902V 1 0.223076923 ENSG00000183091 chr2:151640042-151640042;G/C missense_variant False NEB@p.K866N 1 0.039823009 ENSG00000183091 chr2:151687458-151687458;C/G missense_variant False NEB@p.K5746N 1 0.365461847 ENSG00000183091 chr2:151524548-151524548;C/G missense_variant False NEB@p.K3651N 1 0.615384615 ENSG00000183091 chr2:151612309-151612309;C/G missense_variant False NEB@p.R5318C 1 0.175438596 ENSG00000183091 chr2:151537919-151537919;G/A missense_variant False NEB@p.R6425W 1 0.107142857 ENSG00000183091 chr2:151492419-151492419;G/A missense_variant False NCOR1@p.A966T 1 0.365853659 ENSG00000141027 chr17:16091983-16091983;C/T missense_variant True NEBL@p.L723M 1 0.24691358 ENSG00000078114 chr10:20815699-20815699;G/T missense_variant False NEBL@p.S881C 1 0.23880597 ENSG00000078114 chr10:20808629-20808629;G/C missense_variant False NEBL@p.S572F 1 0.179104478 ENSG00000078114 chr10:20828591-20828591;G/A missense_variant False NEBL@p.R877G 1 0.326732673 ENSG00000078114 chr10:20808642-20808642;T/C missense_variant False NEBL@p.R845H 1 0.472972973 ENSG00000078114 chr10:20809883-20809883;C/T missense_variant False NEBL@p.P72A 1 0.142857143 ENSG00000078114 chr10:20889889-20889889;G/C missense_variant False NEBL@p.M567T 1 0.307692308 ENSG00000078114 chr10:20828606-20828606;A/G missense_variant False NEBL@p.G823R 1 0.144736842 ENSG00000078114 chr10:20812820-20812820;C/G missense_variant False NEB@p.R6487Q 1 0.08045977 ENSG00000183091 chr2:151492127-151492127;C/T missense_variant False NEB@p.Y2176F 1 0.325581395 ENSG00000183091 chr2:151655992-151655992;T/A missense_variant False NEB@p.W3846R 1 0.370967742 ENSG00000183091 chr2:151609874-151609874;A/G missense_variant False NEB@p.V3404F 1 0.407407407 ENSG00000183091 chr2:151618412-151618412;C/A missense_variant False NEB@p.T6610S 1 0.358333333 ENSG00000183091 chr2:151489979-151489979;T/A missense_variant False NEB@p.S1908N 1 0.051282051 ENSG00000183091 chr2:151663588-151663588;C/T missense_variant False NEB@p.S1339L 1 0.453125 ENSG00000183091 chr2:151672652-151672652;G/A missense_variant False NEB@p.I6637M 1 0.553719008 ENSG00000183091 chr2:151485859-151485859;G/C missense_variant False NEB@p.I1777T 1 0.454545455 ENSG00000183091 chr2:151664772-151664772;A/G missense_variant False NEB@p.I1120L 1 0.304347826 ENSG00000183091 chr2:151678085-151678085;T/A missense_variant False NDUFS7@p.Q32H 1 0.37254902 ENSG00000115286 chr19:1388567-1388567;G/C missense_variant False NDUFV2@p.K27N 1 0.611940299 ENSG00000178127 chr18:9117864-9117864;G/C missense_variant False NDUFV2@p.E202Q 1 0.148809524 ENSG00000178127 chr18:9126855-9126855;G/C missense_variant False NDUFV1@p.E447K 1 0.202898551 ENSG00000167792 chr11:67612402-67612402;G/A missense_variant False NDUFV1@p.E333K 1 0.36 ENSG00000167792 chr11:67611486-67611486;G/A missense_variant False NDUFV1@p.C206S 1 0.305732484 ENSG00000167792 chr11:67610487-67610487;G/C missense_variant False NDUFS8@p.D53N 1 0.18018018 ENSG00000110717 chr11:68032970-68032970;G/A missense_variant False NDUFS6@p.G36R 1 0.458333333 ENSG00000145494 chr5:1801523-1801523;G/A missense_variant False NEB@p.H6071D 1 0.2 ENSG00000183091 chr2:151512765-151512765;G/C missense_variant False NDUFS5@p.C43Hfs*9 1 0.265060241 ENSG00000168653 chr1:39028851-39028875;TGTGCACATGGAATCGGTTATACTC/CAT frameshift_variant False NDUFS4@p.Q46K 1 0.338709677 ENSG00000164258 chr5:53603489-53603489;C/A missense_variant False NDUFS4@p.D102N 1 0.140625 ENSG00000164258 chr5:53646359-53646359;G/A missense_variant False NDUFS2@p.N83K 1 0.095238095 ENSG00000158864 chr1:161206453-161206453;C/A missense_variant False NDUFS2@p.D70N 1 0.112781955 ENSG00000158864 chr1:161206412-161206412;G/A missense_variant False NDUFS2@p.D40H 1 0.179487179 ENSG00000158864 chr1:161203459-161203459;G/C missense_variant False NDUFV2@p.R222Tfs*5 1 0.243243243 ENSG00000178127 chr18:9134189-9134190;-/G frameshift_variant False NEB@p.A481T 1 0.130434783 ENSG00000183091 chr2:151697177-151697177;C/T missense_variant False NEB@p.D1661Y 1 0.2 ENSG00000183091 chr2:151666140-151666140;C/A missense_variant False NEB@p.E1422K 1 0.302325581 ENSG00000183091 chr2:151672404-151672404;C/T missense_variant False NEB@p.E1422Q 1 0.538461538 ENSG00000183091 chr2:151672404-151672404;C/G missense_variant False NEB@p.E1825K 1 0.096153846 ENSG00000183091 chr2:151663838-151663838;C/T missense_variant False NEB@p.E2069G 1 0.45631068 ENSG00000183091 chr2:151656442-151656442;T/C missense_variant False NEB@p.E2278K 1 0.203703704 ENSG00000183091 chr2:151654075-151654075;C/T missense_variant False NEB@p.E2444K 1 0.311320755 ENSG00000183091 chr2:151650277-151650277;C/T missense_variant False NEB@p.E3250Q 1 0.5 ENSG00000183091 chr2:151621002-151621002;C/G missense_variant False NEB@p.E3566Q 1 0.4 ENSG00000183091 chr2:151614452-151614452;C/G missense_variant False NEB@p.E3648Q 1 0.155555556 ENSG00000183091 chr2:151612320-151612320;C/G missense_variant False NEB@p.E5991K 1 0.163841808 ENSG00000183091 chr2:151514371-151514371;C/T missense_variant False NEB@p.E6280Q 1 0.285714286 ENSG00000183091 chr2:151496356-151496356;C/G missense_variant False NEB@p.G4465Afs*25 1 0.266666667 ENSG00000183091 chr2:151563905-151563905;C/- frameshift_variant False NEB@p.H4520Y 1 0.159292035 ENSG00000183091 chr2:151563638-151563638;G/A missense_variant False NEB@p.H5323Y 1 0.142857143 ENSG00000183091 chr2:151537904-151537904;G/A missense_variant False NECAB1@p.E296Q 1 0.222222222 ENSG00000123119 chr8:90949832-90949832;G/C missense_variant False NECAB1@p.F323L 1 0.105263158 ENSG00000123119 chr8:90951143-90951143;C/A missense_variant False NECAB1@p.N107S 1 0.088888889 ENSG00000123119 chr8:90881093-90881093;A/G missense_variant False NEFL@p.K353T 1 0.56122449 ENSG00000277586 chr8:24954292-24954292;T/G missense_variant False NEGR1@p.L96F 1 0.2 ENSG00000172260 chr1:71935200-71935200;C/G missense_variant False NEFM@p.S37L 1 0.448979592 ENSG00000104722 chr8:24913903-24913903;C/T missense_variant False NEFM@p.S142L 1 0.5 ENSG00000104722 chr8:24914218-24914218;C/T missense_variant False NEFM@p.E901Q 1 0.28440367 ENSG00000104722 chr8:24918556-24918556;G/C missense_variant False NEFM@p.E581K 1 0.178571429 ENSG00000104722 chr8:24917596-24917596;G/A missense_variant False NEFL@p.K379N 1 0.205263158 ENSG00000277586 chr8:24954213-24954213;C/G missense_variant False NEFH@p.V446L 1 0.22 ENSG00000100285 chr22:29488976-29488976;G/C missense_variant False NEDD9@p.H183Y 1 0.357142857 ENSG00000111859 chr6:11193605-11193605;G/A missense_variant False NEFH@p.K947N 1 0.326086957 ENSG00000100285 chr22:29490481-29490481;G/C missense_variant False NEFH@p.E828K 1 0.27027027 ENSG00000100285 chr22:29490122-29490122;G/A missense_variant False NEFH@p.E797K 1 0.382352941 ENSG00000100285 chr22:29490029-29490029;G/A missense_variant False NEFH@p.E513D 1 0.311111111 ENSG00000100285 chr22:29489179-29489179;G/C missense_variant False NEDD9@p.S393L 1 0.115384615 ENSG00000111859 chr6:11190691-11190691;G/A missense_variant False NEDD9@p.R740Q 1 0.401459854 ENSG00000111859 chr6:11185448-11185448;C/T missense_variant False NEGR1@p.T117M 1 0.380952381 ENSG00000172260 chr1:71935138-71935138;G/A missense_variant False NEIL1@p.D124N 1 0.18 ENSG00000140398 chr15:75349275-75349275;G/A missense_variant False NEIL2@p.D126H 1 0.152380952 ENSG00000154328 chr8:11779835-11779835;G/C missense_variant False NEIL2@p.K299T 1 0.921568627 ENSG00000154328 chr8:11786170-11786170;A/C missense_variant False NEIL2@p.K50N 1 0.215189873 ENSG00000154328 chr8:11779609-11779609;G/C missense_variant False NEIL2@p.S140N 1 0.065789474 ENSG00000154328 chr8:11779878-11779878;G/A missense_variant False NEIL3@p.E108Q 1 0.353658537 ENSG00000109674 chr4:177335731-177335731;G/C missense_variant False NEIL3@p.G386E 1 0.258064516 ENSG00000109674 chr4:177353425-177353425;G/A missense_variant False NEIL3@p.G70E 1 0.257668712 ENSG00000109674 chr4:177322511-177322511;G/A missense_variant False NEIL3@p.I225M 1 0.409090909 ENSG00000109674 chr4:177339830-177339830;A/G missense_variant False NEIL3@p.P332_K335del 1 0.142857143 ENSG00000109674 chr4:177351500-177351511;TAAGCCCTCTTC/- inframe_deletion False NEK10@p.D303N 1 0.512820513 ENSG00000163491 chr3:27304868-27304868;C/T missense_variant False NEK10@p.D477N 1 0.156862745 ENSG00000163491 chr3:27291531-27291531;C/T missense_variant False NEK10@p.H1103N 1 0.313432836 ENSG00000163491 chr3:27119814-27119814;G/T missense_variant False NEK10@p.I661V 1 0.435185185 ENSG00000163491 chr3:27284635-27284635;T/C missense_variant False NEK10@p.R1107C 1 0.354166667 ENSG00000163491 chr3:27119802-27119802;G/A missense_variant False NEK10@p.S618Y 1 0.161849711 ENSG00000163491 chr3:27284898-27284898;G/T missense_variant False NEDD9@p.M485I 1 0.232142857 ENSG00000111859 chr6:11190414-11190414;C/T missense_variant False NEDD9@p.G125R 1 0.373626374 ENSG00000111859 chr6:11213367-11213367;C/G missense_variant False NECAB2@p.Q251H 1 0.146341463 ENSG00000103154 chr16:83994646-83994646;G/C missense_variant False NECTIN1@p.E499Kfs*99 1 0.166666667 ENSG00000110400 chr11:119664804-119664806;CTC/TT frameshift_variant False NECTIN2@p.R43Q 1 0.152542373 ENSG00000130202 chr19:44865310-44865310;G/A missense_variant False NECTIN2@p.G48C 1 0.204545455 ENSG00000130202 chr19:44865324-44865324;G/T missense_variant False NECTIN2@p.E456Q 1 0.184466019 ENSG00000130202 chr19:44888128-44888128;G/C missense_variant False NECTIN2@p.E448Q 1 0.552631579 ENSG00000130202 chr19:44886214-44886214;G/C missense_variant False NECTIN1@p.S174L 1 0.583333333 ENSG00000110400 chr11:119677767-119677767;G/A missense_variant False NECTIN1@p.R188W 1 0.163265306 ENSG00000110400 chr11:119677726-119677726;G/A missense_variant False NECTIN1@p.E493Q 1 0.175438596 ENSG00000110400 chr11:119664824-119664824;C/G missense_variant False NEDD8@p.H68Y 1 0.428571429 ENSG00000129559 chr14:24217171-24217171;G/A missense_variant False NECTIN1@p.A277V 1 0.071428571 ENSG00000110400 chr11:119677123-119677123;G/A missense_variant False NECAP2@p.H17Y 1 0.222222222 ENSG00000157191 chr1:16440810-16440810;C/T missense_variant False NECAP2@p.D114Y 1 0.25748503 ENSG00000157191 chr1:16448101-16448101;G/T missense_variant False NECAP1@p.Q141Lfs*6 1 0.285714286 ENSG00000089818 chr12:8092714-8092719;AAGAAA/T frameshift_variant False NECAP1@p.A145V 1 0.315789474 ENSG00000089818 chr12:8092726-8092726;C/T missense_variant False NECAB3@p.E161V 1 0.222222222 ENSG00000125967 chr20:33660301-33660301;T/A missense_variant False NECTIN2@p.S256C 1 0.509202454 ENSG00000130202 chr19:44872141-44872141;C/G missense_variant False NECTIN3@p.I402V 1 0.173076923 ENSG00000177707 chr3:111133769-111133769;A/G missense_variant False NECTIN3@p.K72N 1 0.411764706 ENSG00000177707 chr3:111112085-111112085;G/C missense_variant False NECTIN3@p.L79S 1 0.172413793 ENSG00000177707 chr3:111112105-111112105;T/C missense_variant False NECTIN4@p.F196L 1 0.107843137 ENSG00000143217 chr1:161077595-161077595;G/T missense_variant False NECTIN4@p.R263T 1 0.396396396 ENSG00000143217 chr1:161076418-161076418;C/G missense_variant False NEDD1@p.D400N 1 0.402985075 ENSG00000139350 chr12:96940489-96940489;G/A missense_variant False NEDD1@p.L353V 1 0.145695364 ENSG00000139350 chr12:96937333-96937333;C/G missense_variant False NEDD1@p.S568L 1 0.132075472 ENSG00000139350 chr12:96945741-96945741;C/T missense_variant False NEDD4@p.D1122N 1 0.267326733 ENSG00000069869 chr15:55838529-55838529;C/T missense_variant False NEDD4@p.F1075Lfs*8 1 0.19047619 ENSG00000069869 chr15:55840510-55840510;G/- frameshift_variant False NEDD4@p.H1067D 1 0.204545455 ENSG00000069869 chr15:55840624-55840624;G/C missense_variant False NEDD4@p.L612V 1 0.661538462 ENSG00000069869 chr15:55863010-55863010;G/C missense_variant False NEDD4@p.R967C 1 0.444444444 ENSG00000069869 chr15:55842130-55842130;G/A missense_variant False NEDD4L@p.E629K 1 0.375 ENSG00000049759 chr18:58366050-58366050;G/A missense_variant False NEDD4L@p.E653K 1 0.52 ENSG00000049759 chr18:58366122-58366122;G/A missense_variant False NEDD8@p.E12K 1 0.428571429 ENSG00000129559 chr14:24218416-24218416;C/T missense_variant False NDUFS1@p.V257G 1 0.2 ENSG00000023228 chr2:206144994-206144994;A/C missense_variant False NDUFS1@p.V253I 1 0.15625 ENSG00000023228 chr2:206145007-206145007;C/T missense_variant False NDUFS1@p.T715A 1 0.663636364 ENSG00000023228 chr2:206124226-206124226;T/C missense_variant False NCSTN@p.E636Q 1 0.079470199 ENSG00000162736 chr1:160357152-160357152;G/C missense_variant False NDC80@p.E234Q 1 0.36 ENSG00000080986 chr18:2587860-2587860;G/C missense_variant False NDC80@p.E149K 1 0.23 ENSG00000080986 chr18:2578110-2578110;G/A missense_variant False NDC80@p.D608N 1 0.285714286 ENSG00000080986 chr18:2616467-2616467;G/A missense_variant False NDC1@p.S502C 1 0.369047619 ENSG00000058804 chr1:53796768-53796768;G/C missense_variant False NCSTN@p.S419F 1 0.203389831 ENSG00000162736 chr1:160354194-160354194;C/T missense_variant False NCSTN@p.E80K 1 0.21978022 ENSG00000162736 chr1:160349046-160349046;G/A missense_variant False NCSTN@p.D695H 1 0.06 ENSG00000162736 chr1:160358224-160358224;G/C missense_variant False NCOR2@p.S708L 1 0.358778626 ENSG00000196498 chr12:124378281-124378281;G/A missense_variant False NCSTN@p.D336N 1 0.140625 ENSG00000162736 chr1:160352896-160352896;G/A missense_variant False NCSTN@p.D273E 1 0.306603774 ENSG00000162736 chr1:160351781-160351781;C/A missense_variant False NCSTN@p.D143N 1 0.418604651 ENSG00000162736 chr1:160349661-160349661;G/A missense_variant False NCR2@p.S79C 1 0.204545455 ENSG00000096264 chr6:41336270-41336270;C/G missense_variant False NCR1@p.L60Q 1 0.153846154 ENSG00000189430 chr19:54906631-54906631;T/A missense_variant False NCOR2@p.T2062A 1 0.153846154 ENSG00000196498 chr12:124335564-124335564;T/C missense_variant False NDC80@p.E388K 1 0.202531646 ENSG00000080986 chr18:2595562-2595562;G/A missense_variant False NDC80@p.E430Q 1 0.129032258 ENSG00000080986 chr18:2599085-2599085;G/C missense_variant False NDC80@p.E505K 1 0.286956522 ENSG00000080986 chr18:2606463-2606463;G/A missense_variant False NDC80@p.E522Q 1 0.38028169 ENSG00000080986 chr18:2608706-2608706;G/C missense_variant False NDC80@p.L465R 1 0.158730159 ENSG00000080986 chr18:2601415-2601415;T/G missense_variant False NDC80@p.M114I 1 0.455357143 ENSG00000080986 chr18:2578007-2578007;G/C missense_variant False NDC80@p.P48L 1 0.483870968 ENSG00000080986 chr18:2575030-2575030;C/T missense_variant False NDC80@p.R153K 1 0.492307692 ENSG00000080986 chr18:2578123-2578123;G/A missense_variant False NDE1@p.D123N 1 0.45631068 ENSG00000072864 chr16:15677930-15677930;G/A missense_variant False NDE1@p.E11K 1 0.312101911 ENSG00000072864 chr16:15664809-15664809;G/A missense_variant False NDE1@p.E200K 1 0.285714286 ENSG00000072864 chr16:15691218-15691218;G/A missense_variant False NDE1@p.E326D 1 0.132743363 ENSG00000072864 chr16:15696808-15696808;G/C missense_variant False NDE1@p.E49K 1 0.342342342 ENSG00000072864 chr16:15667347-15667347;G/A missense_variant False NDE1@p.L135F 1 0.592105263 ENSG00000072864 chr16:15687391-15687391;C/T missense_variant False NDE1@p.R250W 1 0.277777778 ENSG00000072864 chr16:15694209-15694209;C/T missense_variant False NDE1@p.S10C 1 0.078651685 ENSG00000072864 chr16:15664807-15664807;C/G missense_variant False NDEL1@p.S247F 1 0.781818182 ENSG00000166579 chr17:8454835-8454835;C/T missense_variant False NCOR2@p.T15I 1 0.166666667 ENSG00000196498 chr12:124495208-124495208;G/A missense_variant False NCOR2@p.S1595F 1 0.290322581 ENSG00000196498 chr12:124343157-124343157;G/A missense_variant False NDN@p.E320K 1 0.15 ENSG00000182636 chr15:23686260-23686260;C/T missense_variant False NCOR1@p.G2186R 1 0.25203252 ENSG00000141027 chr17:16047074-16047074;C/T missense_variant True NCOR1@p.P1355L 1 0.407582938 ENSG00000141027 chr17:16071497-16071497;G/A missense_variant True NCOR1@p.N2331H 1 0.362318841 ENSG00000141027 chr17:16034909-16034909;T/G missense_variant True NCOR1@p.I950Mfs*5 1 0.5 ENSG00000141027 chr17:16092029-16092029;A/- frameshift_variant True NCOR1@p.I1351Kfs*4 1 0.247863248 ENSG00000141027 chr17:16071509-16071510;-/TGTT frameshift_variant True NCOR1@p.H101_K107delinsQ 1 0.225806452 ENSG00000141027 chr17:16171918-16171935;TTCGATTCCAGTGAATCA/- inframe_deletion True NCOR1@p.G2283A 1 0.191489362 ENSG00000141027 chr17:16039540-16039540;C/G missense_variant True NCOR1@p.E894Q 1 0.070422535 ENSG00000141027 chr17:16101260-16101260;C/G missense_variant True NCOR2@p.R166W 1 0.212598425 ENSG00000196498 chr12:124473047-124473047;G/A missense_variant False NCOR1@p.E807Q 1 0.470588235 ENSG00000141027 chr17:16101521-16101521;C/G missense_variant True NCOR1@p.E335Q 1 0.166666667 ENSG00000141027 chr17:16146455-16146455;C/G missense_variant True NCOR1@p.E1841Q 1 0.523809524 ENSG00000141027 chr17:16061761-16061761;C/G missense_variant True NCOR1@p.E1230K 1 0.224489796 ENSG00000141027 chr17:16073552-16073552;C/T missense_variant True NCOR1@p.E1005Kfs*10 1 0.146666667 ENSG00000141027 chr17:16091866-16091866;C/- frameshift_variant True NCOR1@p.D1310H 1 0.227272727 ENSG00000141027 chr17:16071633-16071633;C/G missense_variant True NCOR1@p.P815Lfs*12 1 0.780487805 ENSG00000141027 chr17:16101494-16101496;CGG/AA frameshift_variant True NCOR1@p.Q1588H 1 0.144927536 ENSG00000141027 chr17:16065672-16065672;C/G missense_variant True NCOR1@p.Q2001E 1 0.315217391 ENSG00000141027 chr17:16058480-16058480;G/C missense_variant True NCOR1@p.R1023P 1 0.14893617 ENSG00000141027 chr17:16086391-16086391;C/G missense_variant True NCOR1@p.S106L 1 0.333333333 ENSG00000141027 chr17:16171921-16171921;G/A missense_variant True NCOR1@p.S1812F 1 0.506493506 ENSG00000141027 chr17:16061847-16061847;G/A missense_variant True NCOR1@p.S2098L 1 0.310810811 ENSG00000141027 chr17:16057613-16057613;G/A missense_variant True NCOR1@p.S2429L 1 0.625 ENSG00000141027 chr17:16032333-16032333;G/A missense_variant True NCOR1@p.S51N 1 0.130434783 ENSG00000141027 chr17:16186644-16186644;C/T missense_variant True NCOR1@p.S54L 1 0.170731707 ENSG00000141027 chr17:16186635-16186635;G/A missense_variant True NCOR1@p.S743A 1 0.103448276 ENSG00000141027 chr17:16101713-16101713;A/C missense_variant True NCOR1@p.T1502S 1 0.197044335 ENSG00000141027 chr17:16070174-16070174;T/A missense_variant True NCOR1@p.T2243M 1 0.373134328 ENSG00000141027 chr17:16040446-16040446;G/A missense_variant True NCOR2@p.D418H 1 0.405797101 ENSG00000196498 chr12:124426698-124426698;C/G missense_variant False NCOR2@p.I1686M 1 0.086021505 ENSG00000196498 chr12:124341953-124341953;G/C missense_variant False NCOR2@p.K2283N 1 0.072463768 ENSG00000196498 chr12:124332374-124332374;C/G missense_variant False NCOR2@p.Q599Sfs*11 1 0.377358491 ENSG00000196498 chr12:124400519-124400519;G/- frameshift_variant False NDFIP1@p.K204N 1 0.301587302 ENSG00000131507 chr5:142144620-142144620;G/C missense_variant False NDNF@p.I453M 1 0.430167598 ENSG00000173376 chr4:121036612-121036612;G/C missense_variant False NDUFS1@p.E410Q 1 0.413793103 ENSG00000023228 chr2:206141975-206141975;C/G missense_variant False NDUFAF2@p.Y38N 1 0.086956522 ENSG00000164182 chr5:60945367-60945367;T/A missense_variant False NDUFAF6@p.D157N 1 0.444444444 ENSG00000156170 chr8:95041618-95041618;G/A missense_variant False NDUFAF5@p.R26H 1 0.28125 ENSG00000101247 chr20:13785145-13785145;G/A missense_variant False NDUFAF3@p.R33W 1 0.594594595 ENSG00000178057 chr3:49022365-49022365;C/T missense_variant False NDUFAF3@p.R33G 1 0.152173913 ENSG00000178057 chr3:49022365-49022365;C/G missense_variant False NDUFAF3@p.M69I 1 0.534883721 ENSG00000178057 chr3:49022475-49022475;G/A missense_variant False NDUFAF3@p.G164V 1 0.337349398 ENSG00000178057 chr3:49023108-49023108;G/T missense_variant False NDUFAF2@p.E96K 1 0.333333333 ENSG00000164182 chr5:61152731-61152731;G/A missense_variant False NDUFA8@p.E50Q 1 0.260869565 ENSG00000119421 chr9:122152312-122152312;C/G missense_variant False NDUFAF1@p.I71V 1 0.356481481 ENSG00000137806 chr15:41396849-41396849;T/C missense_variant False NDUFAF1@p.E131Q 1 0.262295082 ENSG00000137806 chr15:41396669-41396669;C/G missense_variant False NDUFAB1@p.K92N 1 0.46835443 ENSG00000004779 chr16:23587212-23587212;C/G missense_variant False NDUFAB1@p.E143Q 1 0.202531646 ENSG00000004779 chr16:23582328-23582328;C/G missense_variant False NDUFA9@p.R34L 1 0.220338983 ENSG00000139180 chr12:4654343-4654343;G/T missense_variant False NDUFA9@p.E306K 1 0.140625 ENSG00000139180 chr12:4685278-4685278;G/A missense_variant False NDUFAF7@p.D309H 1 0.146551724 ENSG00000003509 chr2:37246184-37246184;G/C missense_variant False NDUFAF7@p.E34Q 1 0.101265823 ENSG00000003509 chr2:37232150-37232150;G/C missense_variant False NDUFAF7@p.L351V 1 0.050505051 ENSG00000003509 chr2:37247570-37247570;C/G missense_variant False NDUFAF7@p.L4P 1 0.225806452 ENSG00000003509 chr2:37231716-37231716;T/C missense_variant False NDUFAF7@p.Q419E 1 0.261744966 ENSG00000003509 chr2:37248279-37248279;C/G missense_variant False NDUFAF7@p.Y389C 1 0.193548387 ENSG00000003509 chr2:37248190-37248190;A/G missense_variant False NDUFB10@p.C107R 1 0.543859649 ENSG00000140990 chr16:1961546-1961546;T/C missense_variant False NDUFB10@p.Y58H 1 0.170731707 ENSG00000140990 chr16:1961194-1961194;T/C missense_variant False NDUFB4@p.R57G 1 0.34375 ENSG00000065518 chr3:120596528-120596528;C/G missense_variant False NDUFB4@p.R57Q 1 0.272727273 ENSG00000065518 chr3:120596529-120596529;G/A missense_variant False NDUFB4@p.S2L 1 0.444444444 ENSG00000065518 chr3:120596364-120596364;C/T missense_variant False NDUFB5@p.L88V 1 0.342105263 ENSG00000136521 chr3:179616031-179616031;C/G missense_variant False NDUFB5@p.R26C 1 0.333333333 ENSG00000136521 chr3:179604891-179604891;C/T missense_variant False NDUFB5@p.R9L 1 0.183673469 ENSG00000136521 chr3:179604841-179604841;G/T missense_variant False NDUFB6@p.D108N 1 0.426470588 ENSG00000165264 chr9:32553941-32553941;C/T missense_variant False NDUFB6@p.R31W 1 0.344827586 ENSG00000165264 chr9:32572970-32572970;G/A missense_variant False NDUFB9@p.M44I 1 0.148514851 ENSG00000147684 chr8:124543117-124543117;G/A missense_variant False NDUFA9@p.E162K 1 0.077922078 ENSG00000139180 chr12:4659109-4659109;G/A missense_variant False NDUFA8@p.E12K 1 0.131868132 ENSG00000119421 chr9:122159644-122159644;C/T missense_variant False NDNF@p.M323R 1 0.361445783 ENSG00000173376 chr4:121037003-121037003;A/C missense_variant False NDRG4@p.F51L 1 0.491803279 ENSG00000103034 chr16:58504179-58504179;C/A missense_variant False NDST3@p.E156Q 1 0.254545455 ENSG00000164100 chr4:118054376-118054376;G/C missense_variant False NDST3@p.E134K 1 0.235294118 ENSG00000164100 chr4:118054310-118054310;G/A missense_variant False NDST1@p.E247Q 1 0.4375 ENSG00000070614 chr5:150528029-150528029;G/C missense_variant False NDST1@p.A428V 1 0.206896552 ENSG00000070614 chr5:150535731-150535731;C/T missense_variant False NDRG4@p.S25C 1 0.126315789 ENSG00000103034 chr16:58503850-58503850;C/G missense_variant False NDRG4@p.G116E 1 0.063157895 ENSG00000103034 chr16:58504624-58504624;G/A missense_variant False NDRG3@p.D353H 1 0.188679245 ENSG00000101079 chr20:36653591-36653591;C/G missense_variant False NDUFA8@p.D52H 1 0.333333333 ENSG00000119421 chr9:122152306-122152306;C/G missense_variant False NDRG2@p.S42C 1 0.333333333 ENSG00000165795 chr14:21022490-21022490;G/C missense_variant False NDRG2@p.S208C 1 0.311111111 ENSG00000165795 chr14:21019732-21019732;G/C missense_variant False NDRG1@p.S193C 1 0.385714286 ENSG00000104419 chr8:133254555-133254555;G/C missense_variant False NDP@p.G20E 1 0.35483871 ENSG00000124479 chrX:43958587-43958587;C/T missense_variant False NDOR1@p.E183Q 1 0.594594595 ENSG00000188566 chr9:137214238-137214238;G/C missense_variant False NDNF@p.Y481S 1 0.584158416 ENSG00000173376 chr4:121036529-121036529;T/G missense_variant False NDST3@p.G266E 1 0.735632184 ENSG00000164100 chr4:118054707-118054707;G/A missense_variant False NDST3@p.L787V 1 0.223076923 ENSG00000164100 chr4:118242109-118242109;C/G missense_variant False NDST3@p.Q784H 1 0.232142857 ENSG00000164100 chr4:118242102-118242102;G/C missense_variant False NDST3@p.Y705C 1 0.2 ENSG00000164100 chr4:118237216-118237216;A/G missense_variant False NDST4@p.D831Y 1 0.181818182 ENSG00000138653 chr4:114829798-114829798;C/A missense_variant False NDST4@p.G745A 1 0.076923077 ENSG00000138653 chr4:114839430-114839430;C/G missense_variant False NDST4@p.M380T 1 0.489361702 ENSG00000138653 chr4:114970512-114970512;A/G missense_variant False NDST4@p.R473P 1 0.25 ENSG00000138653 chr4:114935324-114935324;C/G missense_variant False NDST4@p.S10N 1 0.323529412 ENSG00000138653 chr4:115077008-115077008;C/T missense_variant False NDST4@p.S246P 1 0.13592233 ENSG00000138653 chr4:115076301-115076301;A/G missense_variant False NDST4@p.V131I 1 0.678571429 ENSG00000138653 chr4:115076646-115076646;C/T missense_variant False NDUFA10@p.R139C 1 0.518518519 ENSG00000130414 chr2:240021242-240021242;G/A missense_variant False NDUFA12@p.L24I 1 0.156398104 ENSG00000184752 chr12:95003611-95003611;G/T missense_variant False NDUFA13@p.E131K 1 0.268292683 ENSG00000186010 chr19:19528082-19528082;G/A missense_variant False NDUFA1@p.S10F 1 0.716535433 ENSG00000125356 chrX:119871940-119871940;C/T missense_variant False NDUFA5@p.G10S 1 0.220338983 ENSG00000128609 chr7:123557442-123557442;C/T missense_variant False NDUFA7@p.S50P 1 0.155555556 ENSG00000267855 chr19:8316599-8316599;A/G missense_variant False NBAS@p.S1694T 1 0.095238095 ENSG00000151779 chr2:15287130-15287130;C/G missense_variant False NBAS@p.S1067C 1 0.090909091 ENSG00000151779 chr2:15394284-15394284;G/C missense_variant False NBAS@p.Q107K 1 0.25 ENSG00000151779 chr2:15553442-15553442;G/T missense_variant False MYPN@p.S643C 1 0.223880597 ENSG00000138347 chr10:68166621-68166621;C/G missense_variant False MYRF@p.L900V 1 0.2 ENSG00000124920 chr11:61781263-61781263;C/G missense_variant False MYRF@p.L285M 1 0.079545455 ENSG00000124920 chr11:61771612-61771612;C/A missense_variant False MYRF@p.A548T 1 0.348837209 ENSG00000124920 chr11:61777315-61777315;G/A missense_variant False MYPOP@p.E23K 1 0.583333333 ENSG00000176182 chr19:45901707-45901707;C/T missense_variant False MYPOP@p.D57N 1 0.230769231 ENSG00000176182 chr19:45901605-45901605;C/T missense_variant False MYPN@p.S643Y 1 0.383561644 ENSG00000138347 chr10:68166621-68166621;C/A missense_variant False MYPN@p.S539R 1 0.196428571 ENSG00000138347 chr10:68166310-68166310;C/G missense_variant False MYRF@p.Q549Sfs*50 1 0.571428571 ENSG00000124920 chr11:61777316-61777334;CACAGGTGCCCGACACCGT/- frameshift_variant False MYPN@p.S1311C 1 0.321428571 ENSG00000138347 chr10:68210424-68210424;C/G missense_variant False MYPN@p.R285Q 1 0.396551724 ENSG00000138347 chr10:68122292-68122292;G/A missense_variant False MYPN@p.R1216T 1 0.127272727 ENSG00000138347 chr10:68201982-68201982;G/C missense_variant False MYPN@p.R1042L 1 0.333333333 ENSG00000138347 chr10:68195499-68195499;G/T missense_variant False MYPN@p.Q299E 1 0.106060606 ENSG00000138347 chr10:68122333-68122333;C/G missense_variant False MYPN@p.L1159V 1 0.459459459 ENSG00000138347 chr10:68199557-68199557;C/G missense_variant False MYRF@p.M274I 1 0.216981132 ENSG00000124920 chr11:61771581-61771581;G/C missense_variant False MYRF@p.R1078S 1 0.125 ENSG00000124920 chr11:61784319-61784319;G/C missense_variant False NBAS@p.M1881I 1 0.723404255 ENSG00000151779 chr2:15275565-15275565;C/T missense_variant False MYSM1@p.D93E 1 0.506493506 ENSG00000162601 chr1:58690357-58690357;A/T missense_variant False MYT1@p.E302Q 1 0.175675676 ENSG00000196132 chr20:64208100-64208100;G/C missense_variant False MYT1@p.A513V 1 0.160714286 ENSG00000196132 chr20:64213554-64213554;C/T missense_variant False MYSM1@p.T745K 1 0.048780488 ENSG00000162601 chr1:58661442-58661442;G/T missense_variant False MYSM1@p.Q387L 1 0.458333333 ENSG00000162601 chr1:58681884-58681884;T/A missense_variant False MYSM1@p.Q185H 1 0.418181818 ENSG00000162601 chr1:58682489-58682489;T/G missense_variant False MYSM1@p.E4K 1 0.261538462 ENSG00000162601 chr1:58700043-58700043;C/T missense_variant False MYSM1@p.D557N 1 0.380952381 ENSG00000162601 chr1:58669031-58669031;C/T missense_variant False MYRF@p.R316H 1 0.110091743 ENSG00000124920 chr11:61771706-61771706;G/A missense_variant False MYSM1@p.D266N 1 0.450704225 ENSG00000162601 chr1:58682248-58682248;C/T missense_variant False MYSM1@p.C440Y 1 0.314606742 ENSG00000162601 chr1:58676997-58676997;C/T missense_variant False MYRIP@p.E814Q 1 0.236842105 ENSG00000170011 chr3:40251892-40251892;G/C missense_variant False MYRIP@p.D552N 1 0.238095238 ENSG00000170011 chr3:40190452-40190452;G/A missense_variant False MYRF@p.S865L 1 0.311827957 ENSG00000124920 chr11:61781159-61781159;C/T missense_variant False MYRF@p.S854C 1 0.172413793 ENSG00000124920 chr11:61781034-61781034;C/G missense_variant False MYPN@p.I12T 1 0.444444444 ENSG00000138347 chr10:68121473-68121473;T/C missense_variant False MYPN@p.G1153R 1 0.173333333 ENSG00000138347 chr10:68199539-68199539;G/A missense_variant False MYPN@p.E1007Q 1 0.09375 ENSG00000138347 chr10:68194456-68194456;G/C missense_variant False MYOM3@p.L940M 1 0.254545455 ENSG00000142661 chr1:24075359-24075359;G/T missense_variant False MYORG@p.R282Q 1 0.14893617 ENSG00000164976 chr9:34372099-34372099;C/T missense_variant False MYORG@p.G222E 1 0.736842105 ENSG00000164976 chr9:34372279-34372279;C/T missense_variant False MYORG@p.D442Y 1 0.863636364 ENSG00000164976 chr9:34371620-34371620;C/A missense_variant False MYOM3@p.S617F 1 0.165625 ENSG00000142661 chr1:24084588-24084588;G/A missense_variant False MYOM3@p.S1223C 1 0.55 ENSG00000142661 chr1:24063228-24063228;G/C missense_variant False MYOM3@p.P1033A 1 0.227272727 ENSG00000142661 chr1:24071170-24071170;G/C missense_variant False MYOM3@p.L697V 1 0.211267606 ENSG00000142661 chr1:24082596-24082596;G/C missense_variant False MYPN@p.A554T 1 0.175675676 ENSG00000138347 chr10:68166353-68166353;G/A missense_variant False MYOM3@p.I635M 1 0.325 ENSG00000142661 chr1:24084533-24084533;G/C missense_variant False MYOM3@p.I1176M 1 0.79876161 ENSG00000142661 chr1:24065897-24065897;A/C missense_variant False MYOM3@p.F199Sfs*19 1 0.142857143 ENSG00000142661 chr1:24099739-24099740;AA/- frameshift_variant False MYOM3@p.E410K 1 0.13592233 ENSG00000142661 chr1:24092178-24092178;C/T missense_variant False MYOM3@p.E302K 1 0.214285714 ENSG00000142661 chr1:24094877-24094877;C/T missense_variant False MYOM3@p.E1314K 1 0.244897959 ENSG00000142661 chr1:24061304-24061304;C/T missense_variant False MYORG@p.R89C 1 0.454545455 ENSG00000164976 chr9:34372679-34372679;G/A missense_variant False MYOT@p.E263K 1 0.169491525 ENSG00000120729 chr5:137882076-137882076;G/A missense_variant False MYOT@p.E302Q 1 0.224137931 ENSG00000120729 chr5:137883471-137883471;G/C missense_variant False MYOT@p.L448V 1 0.459016393 ENSG00000120729 chr5:137887230-137887230;C/G missense_variant False MYOT@p.Q200E 1 0.202898551 ENSG00000120729 chr5:137877586-137877586;C/G missense_variant False MYOT@p.R485H 1 0.145833333 ENSG00000120729 chr5:137887342-137887342;G/A missense_variant False MYOT@p.S124L 1 0.193548387 ENSG00000120729 chr5:137875843-137875843;C/T missense_variant False MYOT@p.V324I 1 0.18 ENSG00000120729 chr5:137883537-137883537;G/A missense_variant False MYOT@p.V456Ffs*9 1 0.242236025 ENSG00000120729 chr5:137887252-137887252;G/- frameshift_variant False MYOZ1@p.P281L 1 0.37037037 ENSG00000177791 chr10:73631988-73631988;G/A missense_variant False MYOZ1@p.R237S 1 0.146666667 ENSG00000177791 chr10:73632121-73632121;G/T missense_variant False MYOZ2@p.D255G 1 0.431034483 ENSG00000172399 chr4:119186169-119186169;A/G missense_variant False MYOZ2@p.E260Q 1 0.234375 ENSG00000172399 chr4:119186183-119186183;G/C missense_variant False MYOZ2@p.G193A 1 0.436619718 ENSG00000172399 chr4:119185983-119185983;G/C missense_variant False MYOZ2@p.M8I 1 0.52173913 ENSG00000172399 chr4:119136549-119136549;G/C missense_variant False MYOZ3@p.E170K 1 0.333333333 ENSG00000164591 chr5:150672423-150672423;G/A missense_variant False MYPN@p.A233_E239del 1 0.133333333 ENSG00000138347 chr10:68122131-68122151;GGAAGCCAAGAGGCGTGAAGC/- inframe_deletion False MYT1@p.E68K 1 0.175824176 ENSG00000196132 chr20:64205605-64205605;G/A missense_variant False MYT1@p.H460R 1 0.315789474 ENSG00000196132 chr20:64211293-64211293;A/G missense_variant False MYT1@p.K534T 1 0.083333333 ENSG00000196132 chr20:64213617-64213617;A/C missense_variant False N4BP2@p.E631Dfs*2 1 0.121495327 ENSG00000078177 chr4:40120003-40120007;AGTTC/- frameshift_variant False N4BP2@p.N213H 1 0.333333333 ENSG00000078177 chr4:40102482-40102482;A/C missense_variant False N4BP2@p.L1705F 1 0.261904762 ENSG00000078177 chr4:40144772-40144772;G/C missense_variant False N4BP2@p.L1661V 1 0.285714286 ENSG00000078177 chr4:40144638-40144638;C/G missense_variant False N4BP2@p.G304D 1 0.317647059 ENSG00000078177 chr4:40102756-40102756;G/A missense_variant False N4BP2@p.E950K 1 0.485714286 ENSG00000078177 chr4:40120959-40120959;G/A missense_variant False N4BP2@p.E849Q 1 0.443298969 ENSG00000078177 chr4:40120656-40120656;G/C missense_variant False N4BP2@p.E42K 1 0.115384615 ENSG00000078177 chr4:40097464-40097464;G/A missense_variant False N4BP1@p.G222R 1 0.166666667 ENSG00000102921 chr16:48561979-48561979;C/T missense_variant False N4BP2@p.E1329K 1 0.306122449 ENSG00000078177 chr4:40122096-40122096;G/A missense_variant False N4BP2@p.E1328K 1 0.222222222 ENSG00000078177 chr4:40122093-40122093;G/A missense_variant False N4BP1@p.R726K 1 0.142857143 ENSG00000102921 chr16:48548055-48548055;C/T missense_variant False N4BP1@p.N789S 1 0.285714286 ENSG00000102921 chr16:48543229-48543229;T/C missense_variant False N4BP1@p.H553Y 1 0.409395973 ENSG00000102921 chr16:48560986-48560986;G/A missense_variant False N4BP1@p.G817V 1 0.103448276 ENSG00000102921 chr16:48543145-48543145;C/A missense_variant False N4BP2@p.P1175S 1 0.298387097 ENSG00000078177 chr4:40121634-40121634;C/T missense_variant False N4BP2@p.Q1688H 1 0.076923077 ENSG00000078177 chr4:40144721-40144721;G/C missense_variant False N4BP2@p.Q278E 1 0.175438596 ENSG00000078177 chr4:40102677-40102677;C/G missense_variant False N4BP2@p.R1623K 1 0.24 ENSG00000078177 chr4:40142755-40142755;G/A missense_variant False N4BP2L1@p.E135Q 1 0.358974359 ENSG00000139597 chr13:32404391-32404391;C/G missense_variant False N4BP2L2@p.E267Q 1 0.210526316 ENSG00000244754 chr13:32536229-32536229;C/G missense_variant False N4BP2L2@p.E909Q 1 0.444444444 ENSG00000244754 chr13:32443099-32443099;C/G missense_variant False N4BP2L2@p.K654E 1 0.333333333 ENSG00000244754 chr13:32443864-32443864;T/C missense_variant False N4BP2L2@p.M485I 1 0.102941176 ENSG00000244754 chr13:32522200-32522200;C/T missense_variant False N4BP2L2@p.N479D 1 0.426829268 ENSG00000244754 chr13:32522220-32522220;T/C missense_variant False N4BP2L2@p.N479S 1 0.172839506 ENSG00000244754 chr13:32522219-32522219;T/C missense_variant False N4BP2L2@p.S111F 1 0.277777778 ENSG00000244754 chr13:32536696-32536696;G/A missense_variant False N4BP2L2@p.V319L 1 0.302631579 ENSG00000244754 chr13:32536073-32536073;C/A missense_variant False N4BP3@p.E460K 1 0.928571429 ENSG00000145911 chr5:178121744-178121744;G/A missense_variant False N4BP3@p.R107C 1 0.117647059 ENSG00000145911 chr5:178119902-178119902;C/T missense_variant False N4BP3@p.S192Y 1 0.365384615 ENSG00000145911 chr5:178120422-178120422;C/A missense_variant False N4BP3@p.T121M 1 0.424242424 ENSG00000145911 chr5:178120209-178120209;C/T missense_variant False N4BP1@p.G685R 1 0.433823529 ENSG00000102921 chr16:48551450-48551450;C/T missense_variant False N4BP1@p.E396Q 1 0.328767123 ENSG00000102921 chr16:48561457-48561457;C/G missense_variant False MYT1@p.N1046D 1 0.541899441 ENSG00000196132 chr20:64239802-64239802;A/G missense_variant False MYT1L@p.E578Q 1 0.073170732 ENSG00000186487 chr2:1910319-1910319;C/G missense_variant False MYT1L@p.L1171V 1 0.117647059 ENSG00000186487 chr2:1791911-1791911;G/C missense_variant False MYT1L@p.L1026F 1 0.099009901 ENSG00000186487 chr2:1809164-1809164;C/A missense_variant False MYT1L@p.H921Y 1 0.308080808 ENSG00000186487 chr2:1851648-1851648;G/A missense_variant False MYT1L@p.G1009E 1 0.2 ENSG00000186487 chr2:1839197-1839197;C/T missense_variant False MYT1L@p.E811K 1 0.1875 ENSG00000186487 chr2:1889324-1889324;C/T missense_variant False MYT1L@p.E637Q 1 0.083333333 ENSG00000186487 chr2:1903197-1903197;C/G missense_variant False MYT1L@p.E498Q 1 0.148760331 ENSG00000186487 chr2:1917325-1917325;C/G missense_variant False MZT2B@p.K151N 1 0.464646465 ENSG00000152082 chr2:130190602-130190602;G/C missense_variant False MYT1L@p.E364Q 1 0.128205128 ENSG00000186487 chr2:1922679-1922679;C/G missense_variant False MYT1L@p.A1120E 1 0.409090909 ENSG00000186487 chr2:1792376-1792376;G/T missense_variant False MYT1@p.V453I 1 0.444444444 ENSG00000196132 chr20:64211271-64211271;G/A missense_variant False MYT1@p.S167F 1 0.312056738 ENSG00000196132 chr20:64207696-64207696;C/T missense_variant False MYT1@p.R639C 1 0.095890411 ENSG00000196132 chr20:64218979-64218979;C/T missense_variant False MYT1@p.P651L 1 0.302325581 ENSG00000196132 chr20:64219016-64219016;C/T missense_variant False MYT1L@p.M462I 1 0.201612903 ENSG00000186487 chr2:1922383-1922383;C/T missense_variant False MYT1L@p.Q1164H 1 0.255813953 ENSG00000186487 chr2:1791930-1791930;C/G missense_variant False MYT1L@p.R11C 1 0.232876712 ENSG00000186487 chr2:1979747-1979747;G/A missense_variant False MYT1L@p.R245Q 1 0.48 ENSG00000186487 chr2:1923035-1923035;C/T missense_variant False MYT1L@p.R852T 1 0.061728395 ENSG00000186487 chr2:1887569-1887569;C/G missense_variant False MYT1L@p.S1013L 1 0.136363636 ENSG00000186487 chr2:1839185-1839185;G/A missense_variant False MYZAP@p.L433I 1 0.269230769 ENSG00000263155 chr15:57675061-57675061;C/A missense_variant False MYZAP@p.R448T 1 0.154761905 ENSG00000263155 chr15:57684440-57684440;G/C missense_variant False MZB1@p.R163Q 1 0.370967742 ENSG00000170476 chr5:139387847-139387847;C/T missense_variant False MZF1@p.A302V 1 0.111111111 ENSG00000099326 chr19:58563372-58563372;G/A missense_variant False MZF1@p.D359H 1 0.138888889 ENSG00000099326 chr19:58563202-58563202;C/G missense_variant False MZF1@p.E185Q 1 0.25984252 ENSG00000099326 chr19:58570371-58570371;C/G missense_variant False MZF1@p.E28Q 1 0.408163265 ENSG00000099326 chr19:58571308-58571308;C/G missense_variant False MZF1@p.E594K 1 0.260869565 ENSG00000099326 chr19:58562497-58562497;C/T missense_variant False MZT1@p.E78K 1 0.316666667 ENSG00000204899 chr13:72710339-72710339;C/T missense_variant False MZT2A@p.Q132H 1 0.716981132 ENSG00000173272 chr2:131484142-131484142;C/G missense_variant False MZT2A@p.R124H 1 0.197080292 ENSG00000173272 chr2:131484167-131484167;C/T missense_variant False MYOM3@p.D807N 1 0.327272727 ENSG00000142661 chr1:24080183-24080183;C/T missense_variant False MYOM3@p.D1265N 1 0.117647059 ENSG00000142661 chr1:24062087-24062087;C/T missense_variant False MYOM2@p.R456Q 1 0.182389937 ENSG00000036448 chr8:2078838-2078838;G/A missense_variant False MYO7B@p.F617L 1 0.176470588 ENSG00000169994 chr2:127588552-127588552;C/G missense_variant False MYO7B@p.W2057C 1 0.313432836 ENSG00000169994 chr2:127636835-127636835;G/C missense_variant False MYO7B@p.R570Q 1 0.127906977 ENSG00000169994 chr2:127588410-127588410;G/A missense_variant False MYO7B@p.R2003W 1 0.411764706 ENSG00000169994 chr2:127636286-127636286;C/T missense_variant False MYO7B@p.Q1055E 1 0.294117647 ENSG00000169994 chr2:127609987-127609987;C/G missense_variant False MYO7B@p.M723I 1 0.356435644 ENSG00000169994 chr2:127593569-127593569;G/A missense_variant False MYO7B@p.L1863F 1 0.4 ENSG00000169994 chr2:127634637-127634637;G/C missense_variant False MYO7B@p.D1907H 1 0.24137931 ENSG00000169994 chr2:127635203-127635203;G/C missense_variant False MYO7A@p.L1194I 1 0.075268817 ENSG00000137474 chr11:77189420-77189420;C/A missense_variant False MYO7B@p.A1243T 1 0.257142857 ENSG00000169994 chr2:127623361-127623361;G/A missense_variant False MYO7B@p.A1204T 1 0.233333333 ENSG00000169994 chr2:127623244-127623244;G/A missense_variant False MYO7A@p.T520R 1 0.481927711 ENSG00000137474 chr11:77162857-77162857;C/G missense_variant False MYO7A@p.S303F 1 0.260869565 ENSG00000137474 chr11:77158335-77158335;C/T missense_variant False MYO7A@p.S1358T 1 0.424657534 ENSG00000137474 chr11:77192198-77192198;T/A missense_variant False MYO7A@p.M309V 1 0.305555556 ENSG00000137474 chr11:77158352-77158352;A/G missense_variant False MYO9A@p.A1896P 1 0.115942029 ENSG00000066933 chr15:71879774-71879774;C/G missense_variant False MYO9A@p.D1588H 1 0.35483871 ENSG00000066933 chr15:71897741-71897741;C/G missense_variant False MYO9A@p.E1514K 1 0.329411765 ENSG00000066933 chr15:71897963-71897963;C/T missense_variant False MYO9A@p.E1570K 1 0.32 ENSG00000066933 chr15:71897795-71897795;C/T missense_variant False MYO9A@p.E1685K 1 0.5 ENSG00000066933 chr15:71893768-71893768;C/T missense_variant False MYO9A@p.E2055Q 1 0.529411765 ENSG00000066933 chr15:71854560-71854560;C/G missense_variant False MYO9A@p.E2349K 1 0.183673469 ENSG00000066933 chr15:71828022-71828022;C/T missense_variant False MYO9A@p.E2380K 1 0.172839506 ENSG00000066933 chr15:71827929-71827929;C/T missense_variant False MYO9A@p.E349D 1 0.37254902 ENSG00000066933 chr15:72020969-72020969;C/G missense_variant False MYO9A@p.E384D 1 0.291666667 ENSG00000066933 chr15:72019042-72019042;C/A missense_variant False MYO9A@p.F1039S 1 0.431372549 ENSG00000066933 chr15:71901225-71901225;A/G missense_variant False MYO9A@p.H2191Y 1 0.2 ENSG00000066933 chr15:71851263-71851263;G/A missense_variant False MYO9A@p.K1271N 1 0.204724409 ENSG00000066933 chr15:71898690-71898690;C/G missense_variant False MYO9A@p.K230I 1 0.427419355 ENSG00000066933 chr15:72045875-72045875;T/A missense_variant False MYO9A@p.L1020F 1 0.40625 ENSG00000066933 chr15:71901283-71901283;G/A missense_variant False MYO9A@p.L1042V 1 0.120689655 ENSG00000066933 chr15:71901217-71901217;G/C missense_variant False MYO9A@p.N250K 1 0.237113402 ENSG00000066933 chr15:72045814-72045814;G/C missense_variant False MYO7A@p.L4I 1 0.461538462 ENSG00000137474 chr11:77130644-77130644;C/A missense_variant False MYO7A@p.K1884N 1 0.333333333 ENSG00000137474 chr11:77206112-77206112;G/T missense_variant False MYO9A@p.Q301E 1 0.152173913 ENSG00000066933 chr15:72032528-72032528;G/C missense_variant False MYO5B@p.I398M 1 0.466666667 ENSG00000167306 chr18:49974478-49974478;G/C missense_variant False MYO5B@p.S96F 1 0.322222222 ENSG00000167306 chr18:50040166-50040166;G/A missense_variant False MYO5B@p.S727C 1 0.459119497 ENSG00000167306 chr18:49912084-49912084;G/C missense_variant False MYO5B@p.R932L 1 0.333333333 ENSG00000167306 chr18:49902610-49902610;C/A missense_variant False MYO5B@p.Q1711K 1 0.384615385 ENSG00000167306 chr18:49837524-49837524;G/T missense_variant False MYO5B@p.N718D 1 0.218623482 ENSG00000167306 chr18:49912112-49912112;T/C missense_variant False MYO5B@p.K1425Q 1 0.355140187 ENSG00000167306 chr18:49849609-49849609;T/G missense_variant False MYO5B@p.H378Y 1 0.553191489 ENSG00000167306 chr18:49974540-49974540;G/A missense_variant False MYO7A@p.E450Q 1 0.4 ENSG00000137474 chr11:77162124-77162124;G/C missense_variant False MYO5B@p.E1758Q 1 0.440677966 ENSG00000167306 chr18:49836752-49836752;C/G missense_variant False MYO5B@p.E1420G 1 0.05704698 ENSG00000167306 chr18:49849623-49849623;T/C missense_variant False MYO5B@p.E1125K 1 0.65060241 ENSG00000167306 chr18:49877786-49877786;C/T missense_variant False MYO5B@p.D1586Y 1 0.378378378 ENSG00000167306 chr18:49839240-49839240;C/A missense_variant False MYO5A@p.R984W 1 0.862745098 ENSG00000197535 chr15:52370285-52370285;G/A missense_variant False MYO5A@p.R778Q 1 0.287878788 ENSG00000197535 chr15:52376434-52376434;C/T missense_variant False MYO5C@p.D1650N 1 0.583333333 ENSG00000128833 chr15:52196356-52196356;C/T missense_variant False MYO5C@p.E1195K 1 0.607843137 ENSG00000128833 chr15:52223588-52223588;C/T missense_variant False MYO5C@p.E1614K 1 0.306451613 ENSG00000128833 chr15:52196464-52196464;C/T missense_variant False MYO5C@p.E715Q 1 0.15625 ENSG00000128833 chr15:52245389-52245389;C/G missense_variant False MYO5C@p.G1258E 1 0.369230769 ENSG00000128833 chr15:52219771-52219771;C/T missense_variant False MYO5C@p.Q1082E 1 0.179487179 ENSG00000128833 chr15:52225496-52225496;G/C missense_variant False MYO5C@p.Q307E 1 0.091836735 ENSG00000128833 chr15:52269774-52269774;G/C missense_variant False MYO6@p.E589K 1 0.109589041 ENSG00000196586 chr6:75866616-75866616;G/A missense_variant False MYO6@p.K1199T 1 0.074766355 ENSG00000196586 chr6:75914189-75914189;A/C missense_variant False MYO6@p.K365N 1 0.230769231 ENSG00000196586 chr6:75855155-75855155;G/C missense_variant False MYO6@p.L1108V 1 0.125 ENSG00000196586 chr6:75908507-75908507;C/G missense_variant False MYO6@p.L372S 1 0.511627907 ENSG00000196586 chr6:75855175-75855175;T/C missense_variant False MYO6@p.P538T 1 0.490909091 ENSG00000196586 chr6:75862661-75862661;C/A missense_variant False MYO6@p.R339Q 1 0.128440367 ENSG00000196586 chr6:75848469-75848469;G/A missense_variant False MYO7A@p.A1005V 1 0.173333333 ENSG00000137474 chr11:77182060-77182060;C/T missense_variant False MYO7A@p.D596H 1 0.461538462 ENSG00000137474 chr11:77166151-77166151;G/C missense_variant False MYO7A@p.E1032Q 1 0.224137931 ENSG00000137474 chr11:77182140-77182140;G/C missense_variant False MYO9A@p.P82A 1 0.384615385 ENSG00000066933 chr15:72046320-72046320;G/C missense_variant False MYO9A@p.R1255T 1 0.142857143 ENSG00000066933 chr15:71898739-71898739;C/G missense_variant False MYOM2@p.Q24E 1 0.244444444 ENSG00000036448 chr8:2050836-2050836;C/G missense_variant False MYOF@p.P1299S 1 0.222222222 ENSG00000138119 chr10:93351223-93351223;G/A missense_variant False MYOG@p.E172K 1 0.444444444 ENSG00000122180 chr1:203084686-203084686;C/T missense_variant False MYOF@p.V589I 1 0.3 ENSG00000138119 chr10:93381330-93381330;C/T missense_variant False MYOF@p.S615L 1 0.5 ENSG00000138119 chr10:93381251-93381251;G/A missense_variant False MYOF@p.R1987L 1 0.293103448 ENSG00000138119 chr10:93310573-93310573;C/A missense_variant False MYOF@p.Q1320Rfs*23 1 0.323529412 ENSG00000138119 chr10:93349933-93349933;G/- frameshift_variant False MYOF@p.P773del 1 0.128205128 ENSG00000138119 chr10:93373068-93373070;AGG/- inframe_deletion False MYOF@p.L545F 1 0.043478261 ENSG00000138119 chr10:93387862-93387862;G/A missense_variant False MYOCD@p.K763E 1 0.166666667 ENSG00000141052 chr17:12763114-12763114;A/G missense_variant False MYOF@p.L1771Sfs*41 1 0.352941176 ENSG00000138119 chr10:93323311-93323318;TGGCCCCA/- frameshift_variant False MYOF@p.I1166Mfs*10 1 0.552631579 ENSG00000138119 chr10:93351829-93351830;AG/- frameshift_variant False MYOF@p.F2018L 1 0.25 ENSG00000138119 chr10:93310113-93310113;G/C missense_variant False MYOF@p.F1232L 1 0.298507463 ENSG00000138119 chr10:93351539-93351539;G/C missense_variant False MYOF@p.E400G 1 0.189189189 ENSG00000138119 chr10:93399414-93399414;T/C missense_variant False MYOCD@p.S617Y 1 0.233183857 ENSG00000141052 chr17:12753138-12753138;C/A missense_variant False MYOM1@p.D1322H 1 0.291666667 ENSG00000101605 chr18:3090703-3090703;C/G missense_variant False MYOM1@p.D977H 1 0.166666667 ENSG00000101605 chr18:3126763-3126763;C/G missense_variant False MYOM1@p.E1669K 1 0.1875 ENSG00000101605 chr18:3067315-3067315;C/T missense_variant False MYOM1@p.E378K 1 0.189189189 ENSG00000101605 chr18:3173980-3173980;C/T missense_variant False MYOM1@p.E681Q 1 0.444444444 ENSG00000101605 chr18:3135715-3135715;C/G missense_variant False MYOM1@p.H471Ifs*46 1 0.4 ENSG00000101605 chr18:3164368-3164368;G/- frameshift_variant False MYOM1@p.M1014I 1 0.3 ENSG00000101605 chr18:3119945-3119945;C/T missense_variant False MYOM1@p.N890I 1 0.24137931 ENSG00000101605 chr18:3129357-3129357;T/A missense_variant False MYOM1@p.P1126Q 1 0.261904762 ENSG00000101605 chr18:3112339-3112339;G/T missense_variant False MYOM1@p.R63W 1 0.088050314 ENSG00000101605 chr18:3215037-3215037;G/A missense_variant False MYOM1@p.S1615L 1 0.722222222 ENSG00000101605 chr18:3067476-3067476;G/A missense_variant False MYOM2@p.A807T 1 0.178571429 ENSG00000036448 chr8:2098962-2098962;G/A missense_variant False MYOM2@p.D1044N 1 0.465116279 ENSG00000036448 chr8:2109481-2109481;G/A missense_variant False MYOM2@p.E423D 1 0.666666667 ENSG00000036448 chr8:2078740-2078740;A/C missense_variant False MYOM2@p.E759K 1 0.315789474 ENSG00000036448 chr8:2096396-2096396;G/A missense_variant False MYOM2@p.G857V 1 0.304347826 ENSG00000036448 chr8:2101005-2101005;G/T missense_variant False MYOM2@p.I1051F 1 0.675675676 ENSG00000036448 chr8:2109502-2109502;A/T missense_variant False MYOCD@p.K766N 1 0.355932203 ENSG00000141052 chr17:12763125-12763125;G/T missense_variant False MYOCD@p.I112Nfs*29 1 0.326271186 ENSG00000141052 chr17:12722921-12722922;-/A frameshift_variant False MYO9A@p.R1644T 1 0.254716981 ENSG00000066933 chr15:71897572-71897572;C/G missense_variant False MYO9B@p.A1344T 1 0.815789474 ENSG00000099331 chr19:17195457-17195457;G/A missense_variant False MYO9B@p.E1232K 1 0.19047619 ENSG00000099331 chr19:17195121-17195121;G/A missense_variant False MYO9B@p.E1172D 1 0.24 ENSG00000099331 chr19:17194943-17194943;G/C missense_variant False MYO9B@p.E1060K 1 0.290322581 ENSG00000099331 chr19:17194605-17194605;G/A missense_variant False MYO9B@p.D1200N 1 0.3 ENSG00000099331 chr19:17195025-17195025;G/A missense_variant False MYO9B@p.D115H 1 0.129032258 ENSG00000099331 chr19:17102060-17102060;G/C missense_variant False MYO9B@p.C1681R 1 0.274725275 ENSG00000099331 chr19:17205313-17205313;T/C missense_variant False MYO9A@p.Y21Ffs*21 1 0.127659574 ENSG00000066933 chr15:72046490-72046502;ATAGCCCCAGGAT/- frameshift_variant False MYOCD@p.F851L 1 0.119047619 ENSG00000141052 chr17:12763380-12763380;C/G missense_variant False MYO9A@p.Y1922F 1 0.185185185 ENSG00000066933 chr15:71878206-71878206;T/A missense_variant False MYO9A@p.T307A 1 0.338235294 ENSG00000066933 chr15:72032510-72032510;T/C missense_variant False MYO9A@p.S2444F 1 0.328358209 ENSG00000066933 chr15:71826896-71826896;G/A missense_variant False MYO9A@p.S2049F 1 0.439393939 ENSG00000066933 chr15:71859742-71859742;G/A missense_variant False MYO9A@p.S1749L 1 0.278688525 ENSG00000066933 chr15:71888013-71888013;G/A missense_variant False MYO9A@p.S1483F 1 0.284313725 ENSG00000066933 chr15:71898055-71898055;G/A missense_variant False MYO9B@p.E1233K 1 0.3125 ENSG00000099331 chr19:17195124-17195124;G/A missense_variant False MYO9B@p.E1375Q 1 0.111111111 ENSG00000099331 chr19:17198193-17198193;G/C missense_variant False MYO9B@p.E1579Q 1 0.114285714 ENSG00000099331 chr19:17202202-17202202;G/C missense_variant False MYO9B@p.E1986K 1 0.393939394 ENSG00000099331 chr19:17211672-17211672;G/A missense_variant False MYO9B@p.E382Q 1 0.065789474 ENSG00000099331 chr19:17154360-17154360;G/C missense_variant False MYO9B@p.I1547F 1 0.608695652 ENSG00000099331 chr19:17202001-17202001;A/T missense_variant False MYO9B@p.L319V 1 0.136363636 ENSG00000099331 chr19:17152663-17152663;C/G missense_variant False MYO9B@p.L905R 1 0.285714286 ENSG00000099331 chr19:17191122-17191122;T/G missense_variant False MYO9B@p.Q1130H 1 0.1875 ENSG00000099331 chr19:17194817-17194817;G/C missense_variant False MYO9B@p.R1465C 1 0.272727273 ENSG00000099331 chr19:17200659-17200659;C/T missense_variant False MYO9B@p.Y340C 1 0.084745763 ENSG00000099331 chr19:17153987-17153987;A/G missense_variant False MYOC@p.E300Q 1 0.13559322 ENSG00000034971 chr1:171636542-171636542;C/G missense_variant False MYOC@p.I317T 1 0.141304348 ENSG00000034971 chr1:171636490-171636490;A/G missense_variant False MYOC@p.K484E 1 0.103448276 ENSG00000034971 chr1:171635990-171635990;T/C missense_variant False MYOC@p.V344L 1 0.117647059 ENSG00000034971 chr1:171636410-171636410;C/G missense_variant False MYOCD@p.E154K 1 0.169491525 ENSG00000141052 chr17:12736205-12736205;G/A missense_variant False MYOCD@p.E855K 1 0.47826087 ENSG00000141052 chr17:12763390-12763390;G/A missense_variant False N6AMT1@p.A39V 1 0.113207547 ENSG00000156239 chr21:28885230-28885230;G/A missense_variant False N6AMT1@p.A40P 1 0.120805369 ENSG00000156239 chr21:28885228-28885228;C/G missense_variant False N6AMT1@p.S54L 1 0.184210526 ENSG00000156239 chr21:28883045-28883045;G/A missense_variant False NASP@p.E42K 1 0.196969697 ENSG00000132780 chr1:45602271-45602271;G/A missense_variant False NASP@p.Y596H 1 0.445652174 ENSG00000132780 chr1:45615132-45615132;T/C missense_variant False NASP@p.S690* 1 0.324074074 ENSG00000132780 chr1:45616383-45616383;C/- frameshift_variant False NASP@p.R255T 1 0.235294118 ENSG00000132780 chr1:45607675-45607675;G/C missense_variant False NASP@p.Q251K 1 0.19047619 ENSG00000132780 chr1:45607662-45607662;C/A missense_variant False NASP@p.H114N 1 0.257731959 ENSG00000132780 chr1:45606522-45606522;C/A missense_variant False NASP@p.E764K 1 0.411764706 ENSG00000132780 chr1:45618064-45618064;G/A missense_variant False NASP@p.E14K 1 0.363636364 ENSG00000132780 chr1:45584186-45584186;G/A missense_variant False NARS2@p.D122N 1 0.36 ENSG00000137513 chr11:78568640-78568640;C/T missense_variant False NASP@p.E130Q 1 0.606060606 ENSG00000132780 chr1:45606570-45606570;G/C missense_variant False NARS2@p.S15F 1 0.444444444 ENSG00000137513 chr11:78574445-78574445;G/A missense_variant False NARS2@p.L197V 1 0.15 ENSG00000137513 chr11:78559544-78559544;G/C missense_variant False NARS2@p.F376L 1 0.25 ENSG00000137513 chr11:78465912-78465912;G/C missense_variant False NARS2@p.E262D 1 0.472527473 ENSG00000137513 chr11:78493099-78493099;C/A missense_variant False NARS2@p.E260K 1 0.336842105 ENSG00000137513 chr11:78493107-78493107;C/T missense_variant False NAT10@p.D754N 1 0.368421053 ENSG00000135372 chr11:34139239-34139239;G/A missense_variant False NAT10@p.E324K 1 0.274390244 ENSG00000135372 chr11:34123817-34123817;G/A missense_variant False NAT10@p.E503K 1 0.416666667 ENSG00000135372 chr11:34131518-34131518;G/A missense_variant False NAT10@p.E653K 1 0.252427184 ENSG00000135372 chr11:34135220-34135220;G/A missense_variant False NAT10@p.G17A 1 0.159763314 ENSG00000135372 chr11:34108275-34108275;G/C missense_variant False NAT10@p.L698F 1 0.306666667 ENSG00000135372 chr11:34136707-34136707;G/C missense_variant False NAT10@p.L891F 1 0.113207547 ENSG00000135372 chr11:34141169-34141169;G/C missense_variant False NAT10@p.Q668H 1 0.107526882 ENSG00000135372 chr11:34135267-34135267;G/T missense_variant False NAT10@p.R1011T 1 0.142857143 ENSG00000135372 chr11:34146146-34146146;G/C missense_variant False NAT10@p.R52W 1 0.476190476 ENSG00000135372 chr11:34108787-34108787;C/T missense_variant False NAT10@p.S536C 1 0.08988764 ENSG00000135372 chr11:34132211-34132211;C/G missense_variant False NAT16@p.A5D 1 0.235294118 ENSG00000167011 chr7:101174794-101174794;G/T missense_variant False NAT16@p.D269E 1 0.25 ENSG00000167011 chr7:101172382-101172382;G/C missense_variant False NAT1@p.D162E 1 0.414141414 ENSG00000171428 chr8:18222533-18222533;C/G missense_variant False NAT1@p.L161V 1 0.188235294 ENSG00000171428 chr8:18222528-18222528;C/G missense_variant False NAT1@p.T289A 1 0.555555556 ENSG00000171428 chr8:18222912-18222912;A/G missense_variant False NAT2@p.H179Y 1 0.133333333 ENSG00000156006 chr8:18400538-18400538;C/T missense_variant False NARS2@p.E207K 1 0.303030303 ENSG00000137513 chr11:78528912-78528912;C/T missense_variant False NARS1@p.K68N 1 0.414012739 ENSG00000134440 chr18:57615865-57615865;C/G missense_variant False NAT8@p.M191T 1 0.214285714 ENSG00000144035 chr2:73641057-73641057;A/G missense_variant False NAP1L2@p.R87L 1 0.205882353 ENSG00000186462 chrX:73214233-73214233;C/A missense_variant False NAP1L4@p.E325K 1 0.279069767 ENSG00000205531 chr11:2954589-2954589;C/T missense_variant False NAP1L3@p.S25L 1 0.206521739 ENSG00000186310 chrX:93673231-93673231;G/A missense_variant False NAP1L3@p.R85K 1 0.413793103 ENSG00000186310 chrX:93673051-93673051;C/T missense_variant False NAP1L3@p.E286K 1 0.804878049 ENSG00000186310 chrX:93672449-93672449;C/T missense_variant False NAP1L3@p.D463H 1 0.705882353 ENSG00000186310 chrX:93671918-93671918;C/G missense_variant False NAP1L3@p.D384N 1 0.081081081 ENSG00000186310 chrX:93672155-93672155;C/T missense_variant False NAP1L2@p.G62S 1 0.5 ENSG00000186462 chrX:73214309-73214309;C/T missense_variant False NARS1@p.D87H 1 0.424528302 ENSG00000134440 chr18:57615724-57615724;C/G missense_variant False NAP1L2@p.E32Gfs*4 1 0.219512195 ENSG00000186462 chrX:73214400-73214401;-/A frameshift_variant False NAP1L2@p.E189Q 1 0.066666667 ENSG00000186462 chrX:73213928-73213928;C/G missense_variant False NAP1L2@p.E173K 1 0.196078431 ENSG00000186462 chrX:73213976-73213976;C/T missense_variant False NAP1L1@p.Y110C 1 0.348484848 ENSG00000187109 chr12:76060157-76060157;T/C missense_variant False NAP1L1@p.M42I 1 0.209677419 ENSG00000187109 chr12:76067451-76067451;C/G missense_variant False NAP1L1@p.L109V 1 0.182926829 ENSG00000187109 chr12:76060161-76060161;G/C missense_variant False NAP1L5@p.E60D 1 0.22826087 ENSG00000177432 chr4:88697575-88697575;C/G missense_variant False NAP1L5@p.K93N 1 0.269230769 ENSG00000177432 chr4:88697476-88697476;C/G missense_variant False NAP1L5@p.P12L 1 0.5 ENSG00000177432 chr4:88697720-88697720;G/A missense_variant False NAPA@p.E291K 1 0.202020202 ENSG00000105402 chr19:47488305-47488305;C/T missense_variant False NAPA@p.L104F 1 0.084291188 ENSG00000105402 chr19:47495580-47495580;C/G missense_variant False NAPB@p.N57H 1 0.468085106 ENSG00000125814 chr20:23403002-23403002;T/G missense_variant False NAPEPLD@p.A282Rfs*11 1 0.238095238 ENSG00000161048 chr7:103119675-103119676;-/A frameshift_variant False NAPEPLD@p.L378F 1 0.681818182 ENSG00000161048 chr7:103103477-103103477;C/G missense_variant False NAPG@p.K282N 1 0.166666667 ENSG00000134265 chr18:10550127-10550127;G/C missense_variant False NAPRT@p.D177N 1 0.538461538 ENSG00000147813 chr8:143577308-143577308;C/T missense_variant False NAPRT@p.E451K 1 0.542168675 ENSG00000147813 chr8:143575286-143575286;C/T missense_variant False NAPRT@p.R365P 1 0.333333333 ENSG00000147813 chr8:143576091-143576091;C/G missense_variant False NAPSA@p.R352H 1 0.210526316 ENSG00000131400 chr19:50358761-50358761;C/T missense_variant False NAPSA@p.S327C 1 0.203883495 ENSG00000131400 chr19:50359066-50359066;G/C missense_variant False NARF@p.C86W 1 0.465909091 ENSG00000141562 chr17:82468769-82468769;T/G missense_variant False NARF@p.D45N 1 0.3375 ENSG00000141562 chr17:82464311-82464311;G/A missense_variant False NARS1@p.D429N 1 0.109375 ENSG00000134440 chr18:57602910-57602910;C/T missense_variant False NAT8@p.F140* 1 0.150537634 ENSG00000144035 chr2:73641191-73641210;ACTGTCCACAAAGAGATGAA/- frameshift_variant False NAT8@p.S183C 1 0.384615385 ENSG00000144035 chr2:73641081-73641081;G/C missense_variant False NAP1L1@p.E169K 1 0.25 ENSG00000187109 chr12:76056086-76056086;C/T missense_variant False NAV3@p.S1090F 1 0.182926829 ENSG00000067798 chr12:78119465-78119465;C/T missense_variant False NAV3@p.S136F 1 0.083333333 ENSG00000067798 chr12:77941126-77941126;C/T missense_variant False NAV3@p.S1262F 1 0.171875 ENSG00000067798 chr12:78121975-78121975;C/T missense_variant False NAV3@p.S1262C 1 0.263157895 ENSG00000067798 chr12:78121975-78121975;C/G missense_variant False NAV3@p.S1170C 1 0.160714286 ENSG00000067798 chr12:78119705-78119705;C/G missense_variant False NAV3@p.S1142L 1 0.275862069 ENSG00000067798 chr12:78119621-78119621;C/T missense_variant False NAV3@p.S1106L 1 0.183673469 ENSG00000067798 chr12:78119513-78119513;C/T missense_variant False NAV3@p.R1402T 1 0.233766234 ENSG00000067798 chr12:78122395-78122395;G/C missense_variant False NAV3@p.E1023Q 1 0.163043478 ENSG00000067798 chr12:78119263-78119263;G/C missense_variant False NAV3@p.Q2363L 1 0.060344828 ENSG00000067798 chr12:78210447-78210447;A/T missense_variant False NAV3@p.Q1645K 1 0.058823529 ENSG00000067798 chr12:78168818-78168818;C/A missense_variant False NAV3@p.N732S 1 0.333333333 ENSG00000067798 chr12:78050826-78050826;A/G missense_variant False NAV3@p.L29V 1 0.266666667 ENSG00000067798 chr12:77831546-77831546;C/G missense_variant False NAV3@p.I100M 1 0.428571429 ENSG00000067798 chr12:77940375-77940375;C/G missense_variant False NAV3@p.E1603K 1 0.228070175 ENSG00000067798 chr12:78159224-78159224;G/A missense_variant False NAV3@p.S1722F 1 0.442105263 ENSG00000067798 chr12:78177181-78177181;C/T missense_variant False NAV3@p.S2364C 1 0.413043478 ENSG00000067798 chr12:78210449-78210449;A/T missense_variant False NAV3@p.S461C 1 0.171171171 ENSG00000067798 chr12:78006920-78006920;C/G missense_variant False NAV3@p.S532Y 1 0.222222222 ENSG00000067798 chr12:78007133-78007133;C/A missense_variant False NAV3@p.T1080S 1 0.396396396 ENSG00000067798 chr12:78119435-78119435;C/G missense_variant False NAV3@p.Y2151C 1 0.6 ENSG00000067798 chr12:78198610-78198610;A/G missense_variant False NAV3@p.Y820Vfs*20 1 0.4 ENSG00000067798 chr12:78051087-78051093;GATATAT/- frameshift_variant False NAXD@p.D225Y 1 0.428571429 ENSG00000213995 chr13:110635489-110635489;G/T missense_variant False NAXD@p.M222Yfs*5 1 0.166666667 ENSG00000213995 chr13:110635473-110635474;-/G frameshift_variant False NAXD@p.Q83E 1 0.324324324 ENSG00000213995 chr13:110622362-110622362;C/G missense_variant False NAXE@p.R261C 1 0.13740458 ENSG00000163382 chr1:156593998-156593998;C/T missense_variant False NAXE@p.S247C 1 0.207920792 ENSG00000163382 chr1:156593957-156593957;C/G missense_variant False NBAS@p.D2146N 1 0.120833333 ENSG00000151779 chr2:15190400-15190400;C/T missense_variant False NBAS@p.E1604K 1 0.479166667 ENSG00000151779 chr2:15292754-15292754;C/T missense_variant False NBAS@p.E5K 1 0.333333333 ENSG00000151779 chr2:15561292-15561292;C/T missense_variant False NBAS@p.G185E 1 0.264900662 ENSG00000151779 chr2:15536511-15536511;C/T missense_variant False NBAS@p.L186F 1 0.268115942 ENSG00000151779 chr2:15536507-15536507;C/G missense_variant False NAV3@p.E1563K 1 0.242424242 ENSG00000067798 chr12:78146372-78146372;G/A missense_variant False NAV3@p.D1969H 1 0.452380952 ENSG00000067798 chr12:78188627-78188627;G/C missense_variant False NAT8@p.S183F 1 0.234567901 ENSG00000144035 chr2:73641081-73641081;G/A missense_variant False NAV1@p.K398N 1 0.266666667 ENSG00000134369 chr1:201718723-201718723;G/C missense_variant False NAV1@p.S750L 1 0.093333333 ENSG00000134369 chr1:201782761-201782761;C/T missense_variant False NAV1@p.S594L 1 0.147540984 ENSG00000134369 chr1:201782293-201782293;C/T missense_variant False NAV1@p.S452L 1 0.24137931 ENSG00000134369 chr1:201780549-201780549;C/T missense_variant False NAV1@p.S214F 1 0.318181818 ENSG00000134369 chr1:201649309-201649309;C/T missense_variant False NAV1@p.P445S 1 0.387096774 ENSG00000134369 chr1:201780527-201780527;C/T missense_variant False NAV1@p.L1380F 1 0.104347826 ENSG00000134369 chr1:201808804-201808804;A/C missense_variant False NAV1@p.E978K 1 0.331125828 ENSG00000134369 chr1:201786514-201786514;G/A missense_variant False NAV3@p.D1690H 1 0.109090909 ENSG00000067798 chr12:78175392-78175392;G/C missense_variant False NAV1@p.E478D 1 0.058823529 ENSG00000134369 chr1:201781080-201781080;G/C missense_variant False NAV1@p.E1484Q 1 0.361111111 ENSG00000134369 chr1:201809994-201809994;G/C missense_variant False NAV1@p.D1323Y 1 0.28 ENSG00000134369 chr1:201808539-201808539;G/T missense_variant False NATD1@p.D39N 1 0.238095238 ENSG00000274180 chr17:21244216-21244216;C/T missense_variant False NAT9@p.D97N 1 0.4 ENSG00000109065 chr17:74772941-74772941;C/T missense_variant False NAT9@p.C65F 1 0.666666667 ENSG00000109065 chr17:74773036-74773036;C/A missense_variant False NAV1@p.S797L 1 0.354066986 ENSG00000134369 chr1:201783438-201783438;C/T missense_variant False NAV1@p.S813L 1 0.403409091 ENSG00000134369 chr1:201783486-201783486;C/T missense_variant False NAV1@p.V1276M 1 0.918032787 ENSG00000134369 chr1:201808130-201808130;G/A missense_variant False NAV2@p.D1037H 1 0.0875 ENSG00000166833 chr11:20044113-20044113;G/C missense_variant False NAV2@p.D1701N 1 0.317073171 ENSG00000166833 chr11:20068348-20068348;G/A missense_variant False NAV2@p.D2055N 1 0.098765432 ENSG00000166833 chr11:20095741-20095741;G/A missense_variant False NAV2@p.D2360N 1 0.788888889 ENSG00000166833 chr11:20107723-20107723;G/A missense_variant False NAV2@p.D316N 1 0.302325581 ENSG00000166833 chr11:19892540-19892540;G/A missense_variant False NAV2@p.E1947D 1 0.206896552 ENSG00000166833 chr11:20092217-20092217;G/C missense_variant False NAV2@p.E2006K 1 0.45 ENSG00000166833 chr11:20093122-20093122;G/A missense_variant False NAV2@p.E2418K 1 0.3125 ENSG00000166833 chr11:20114706-20114706;G/A missense_variant False NAV2@p.H2324Y 1 0.141025641 ENSG00000166833 chr11:20105679-20105679;C/T missense_variant False NAV2@p.P2463S 1 0.464285714 ENSG00000166833 chr11:20118178-20118178;C/T missense_variant False NAV2@p.R1525S 1 0.162790698 ENSG00000166833 chr11:20054102-20054102;C/A missense_variant False NAV2@p.R814W 1 0.181818182 ENSG00000166833 chr11:19948806-19948806;C/T missense_variant False NAV2@p.S1651L 1 0.166666667 ENSG00000166833 chr11:20056581-20056581;C/T missense_variant False NAV3@p.A1679V 1 0.347826087 ENSG00000067798 chr12:78175360-78175360;C/T missense_variant False NAP1L1@p.G249E 1 0.235294118 ENSG00000187109 chr12:76053794-76053794;C/T missense_variant False NAP1L1@p.D240H 1 0.346153846 ENSG00000187109 chr12:76053822-76053822;C/G missense_variant False NAA10@p.L20H 1 0.16 ENSG00000102030 chrX:153934438-153934438;A/T missense_variant False NAAA@p.E319Q 1 0.156862745 ENSG00000138744 chr4:75919923-75919923;C/G missense_variant False NAALADL1@p.F430L 1 0.473958333 ENSG00000168060 chr11:65048210-65048210;G/T missense_variant False NAALAD2@p.V626M 1 0.222222222 ENSG00000077616 chr11:90181637-90181637;G/A missense_variant False NAALAD2@p.S391R 1 0.121621622 ENSG00000077616 chr11:90163405-90163405;A/C missense_variant False NAALAD2@p.G261S 1 0.326923077 ENSG00000077616 chr11:90152469-90152469;G/A missense_variant False NAALAD2@p.E387K 1 0.340540541 ENSG00000077616 chr11:90163393-90163393;G/A missense_variant False NAAA@p.S29L 1 0.578947368 ENSG00000138744 chr4:75940864-75940864;G/A missense_variant False NAA60@p.D122N 1 0.136363636 ENSG00000122390 chr16:3483389-3483389;G/A missense_variant False NAA30@p.S201L 1 0.322580645 ENSG00000139977 chr14:57391559-57391559;C/T missense_variant False NAA50@p.D168G 1 0.254098361 ENSG00000121579 chr3:113721767-113721767;T/C missense_variant False NAA40@p.R105Q 1 0.5 ENSG00000110583 chr11:63952469-63952469;G/A missense_variant False NAA38@p.C66S 1 0.197530864 ENSG00000183011 chr17:7857083-7857083;C/G missense_variant False NAA35@p.R331S 1 0.677419355 ENSG00000135040 chr9:85996514-85996514;A/T missense_variant False NAA35@p.K661M 1 0.26 ENSG00000135040 chr9:86018766-86018766;A/T missense_variant False NAA35@p.G699V 1 0.117647059 ENSG00000135040 chr9:86020947-86020947;G/T missense_variant False NAALADL1@p.G139V 1 0.552083333 ENSG00000168060 chr11:65057939-65057939;C/A missense_variant False NAALADL1@p.S276F 1 0.22 ENSG00000168060 chr11:65054515-65054515;G/A missense_variant False NAALADL2@p.E167K 1 0.197183099 ENSG00000177694 chr3:175097245-175097245;G/A missense_variant False NAALADL2@p.E565Q 1 0.206521739 ENSG00000177694 chr3:175576080-175576080;G/C missense_variant False NAALADL2@p.G460R 1 0.279661017 ENSG00000177694 chr3:175467029-175467029;G/A missense_variant False NAALADL2@p.H241Y 1 0.172661871 ENSG00000177694 chr3:175234106-175234106;C/T missense_variant False NAALADL2@p.K515N 1 0.214285714 ENSG00000177694 chr3:175471650-175471650;G/T missense_variant False NAALADL2@p.Q88E 1 0.3 ENSG00000177694 chr3:175097008-175097008;C/G missense_variant False NAB1@p.E101Q 1 0.236842105 ENSG00000138386 chr2:190659477-190659477;G/C missense_variant False NAB1@p.E170K 1 0.255319149 ENSG00000138386 chr2:190659684-190659684;G/A missense_variant False NAB1@p.S180F 1 0.315789474 ENSG00000138386 chr2:190659715-190659715;C/T missense_variant False NAB2@p.S189Rfs*81 1 0.387096774 ENSG00000166886 chr12:57091604-57091605;-/GA frameshift_variant False NABP1@p.E29K 1 0.382165605 ENSG00000173559 chr2:191678699-191678699;G/A missense_variant False NACA2@p.E58K 1 0.185365854 ENSG00000253506 chr17:61591009-61591009;C/T missense_variant False NACA2@p.F104L 1 0.336032389 ENSG00000253506 chr17:61590869-61590869;A/T missense_variant False NACA2@p.G32C 1 0.40625 ENSG00000253506 chr17:61591087-61591087;C/A missense_variant False NACA2@p.R71Q 1 0.051546392 ENSG00000253506 chr17:61590969-61590969;C/T missense_variant False NAA35@p.D468N 1 0.122093023 ENSG00000135040 chr9:86013731-86013731;G/A missense_variant False NAA30@p.H69R 1 0.472222222 ENSG00000139977 chr14:57391163-57391163;A/G missense_variant False NACA@p.E61K 1 0.209090909 ENSG00000196531 chr12:56714415-56714415;C/T missense_variant False NAA15@p.G29E 1 0.076388889 ENSG00000164134 chr4:139334205-139334205;G/A missense_variant False NAA15@p.N360S 1 0.15625 ENSG00000164134 chr4:139354090-139354090;A/G missense_variant False NAA15@p.N299_L301del 1 0.125 ENSG00000164134 chr4:139351271-139351279;TTAAACTTT/- inframe_deletion False NAA15@p.L73F 1 0.134615385 ENSG00000164134 chr4:139336927-139336927;G/C missense_variant False NAA15@p.K593N 1 0.875 ENSG00000164134 chr4:139370236-139370236;G/C missense_variant False NAA15@p.K108Yfs*39 1 0.111888112 ENSG00000164134 chr4:139340989-139341034;AAATGGGATAAAGACAATCTTCAAATCTTAAGGGACCTTTCCTTAC/- frameshift_variant False NAA15@p.I444M 1 0.081967213 ENSG00000164134 chr4:139359817-139359817;C/G missense_variant False NAA15@p.E710K 1 0.581395349 ENSG00000164134 chr4:139378827-139378827;G/A missense_variant False NAA25@p.Y266C 1 0.409302326 ENSG00000111300 chr12:112074744-112074744;T/C missense_variant False NAA15@p.E673K 1 0.292307692 ENSG00000164134 chr4:139376434-139376434;G/A missense_variant False NAA15@p.E510K 1 0.142857143 ENSG00000164134 chr4:139360617-139360617;G/A missense_variant False NAA15@p.A393V 1 0.16 ENSG00000164134 chr4:139357476-139357476;C/T missense_variant False NAA15@p.A393S 1 0.16 ENSG00000164134 chr4:139357475-139357475;G/T missense_variant False NAA10@p.S123F 1 0.109756098 ENSG00000102030 chrX:153932089-153932089;G/A missense_variant False NAA10@p.R116W 1 0.213414634 ENSG00000102030 chrX:153932111-153932111;G/A missense_variant False NAA15@p.R601K 1 0.333333333 ENSG00000164134 chr4:139370259-139370259;G/A missense_variant False NAA15@p.S855R 1 0.305343511 ENSG00000164134 chr4:139388048-139388048;T/A missense_variant False NAA15@p.Y384C 1 0.23255814 ENSG00000164134 chr4:139357449-139357449;A/G missense_variant False NAA16@p.K646Q 1 0.361111111 ENSG00000172766 chr13:41369272-41369272;A/C missense_variant False NAA16@p.R536S 1 0.412371134 ENSG00000172766 chr13:41367505-41367505;C/A missense_variant False NAA16@p.R550K 1 0.117647059 ENSG00000172766 chr13:41367548-41367548;G/A missense_variant False NAA16@p.R628T 1 0.151162791 ENSG00000172766 chr13:41369219-41369219;G/C missense_variant False NAA25@p.A406V 1 0.493333333 ENSG00000111300 chr12:112061321-112061321;G/A missense_variant False NAA25@p.E746Q 1 0.244274809 ENSG00000111300 chr12:112043639-112043639;C/G missense_variant False NAA25@p.E878Q 1 0.303571429 ENSG00000111300 chr12:112039246-112039246;C/G missense_variant False NAA25@p.I87Pfs*16 1 0.201754386 ENSG00000111300 chr12:112090749-112090750;AT/- frameshift_variant False NAA25@p.K874N 1 0.205882353 ENSG00000111300 chr12:112039256-112039256;C/A missense_variant False NAA25@p.L729Rfs*36 1 0.368932039 ENSG00000111300 chr12:112043660-112043690;CCAGGGTTGCCTCCAGCTGTTGAAGGAGCAA/- frameshift_variant False NAA25@p.L837V 1 0.131868132 ENSG00000111300 chr12:112040510-112040510;G/C missense_variant False NAA25@p.Q507E 1 0.259259259 ENSG00000111300 chr12:112054497-112054497;G/C missense_variant False NAA25@p.S952L 1 0.220588235 ENSG00000111300 chr12:112029595-112029595;G/A missense_variant False NAA25@p.Y239F 1 0.384615385 ENSG00000111300 chr12:112075738-112075738;T/A missense_variant False NACA@p.E15K 1 0.76 ENSG00000196531 chr12:56724479-56724479;C/T missense_variant False NACA@p.G26E 1 0.359375 ENSG00000196531 chr12:56714681-56714681;C/T missense_variant False NAP1L1@p.D17H 1 0.174672489 ENSG00000187109 chr12:76068963-76068963;C/G missense_variant False NALCN@p.M1258I 1 0.148148148 ENSG00000102452 chr13:101081638-101081638;C/T missense_variant False NALCN@p.V1247L 1 0.180124224 ENSG00000102452 chr13:101082835-101082835;C/G missense_variant False NALCN@p.T348S 1 0.118518519 ENSG00000102452 chr13:101291994-101291994;G/C missense_variant False NALCN@p.S1541A 1 0.361111111 ENSG00000102452 chr13:101062102-101062102;A/C missense_variant False NALCN@p.R845W 1 0.313953488 ENSG00000102452 chr13:101107533-101107533;T/A missense_variant False NALCN@p.Q1002H 1 0.136842105 ENSG00000102452 chr13:101103223-101103223;C/G missense_variant False NALCN@p.P163T 1 0.424242424 ENSG00000102452 chr13:101376945-101376945;G/T missense_variant False NALCN@p.K1334N 1 0.100840336 ENSG00000102452 chr13:101074615-101074615;C/G missense_variant False NAIP@p.T89I 1 0.096385542 ENSG00000249437 chr5:71012650-71012650;G/A missense_variant False NALCN@p.I129S 1 0.043478261 ENSG00000102452 chr13:101377046-101377046;A/C missense_variant False NALCN@p.F1211L 1 0.15 ENSG00000102452 chr13:101083151-101083151;A/G missense_variant False NALCN@p.E813K 1 0.327586207 ENSG00000102452 chr13:101107717-101107717;C/T missense_variant False NALCN@p.E62K 1 0.446428571 ENSG00000102452 chr13:101395290-101395290;C/T missense_variant False NALCN@p.E327K 1 0.233333333 ENSG00000102452 chr13:101292058-101292058;C/T missense_variant False NALCN@p.E257Q 1 0.3125 ENSG00000102452 chr13:101345296-101345296;C/G missense_variant False NALCN@p.Y1204F 1 0.121621622 ENSG00000102452 chr13:101083171-101083171;T/A missense_variant False NAMPT@p.D184N 1 0.275 ENSG00000105835 chr7:106269210-106269210;C/T missense_variant False NAMPT@p.E326Q 1 0.41322314 ENSG00000105835 chr7:106261701-106261701;C/G missense_variant False NAMPT@p.G217R 1 0.61682243 ENSG00000105835 chr7:106268558-106268558;C/T missense_variant False NAMPT@p.N316S 1 0.166666667 ENSG00000105835 chr7:106263414-106263414;T/C missense_variant False NANOG@p.A80V 1 0.318181818 ENSG00000111704 chr12:7793037-7793037;C/T missense_variant False NANOG@p.D18E 1 0.165517241 ENSG00000111704 chr12:7789668-7789668;C/G missense_variant False NANOG@p.L122H 1 0.507692308 ENSG00000111704 chr12:7793163-7793163;T/A missense_variant False NANOG@p.P256S 1 0.417721519 ENSG00000111704 chr12:7794943-7794943;C/T missense_variant False NANOS2@p.G118D 1 0.47826087 ENSG00000188425 chr19:45914341-45914341;C/T missense_variant False NANOS3@p.A103T 1 0.266666667 ENSG00000187556 chr19:13877612-13877612;G/A missense_variant False NANOS3@p.C93Y 1 0.516129032 ENSG00000187556 chr19:13877583-13877583;G/A missense_variant False NANOS3@p.H104Y 1 0.333333333 ENSG00000187556 chr19:13877615-13877615;C/T missense_variant False NANOS3@p.S164L 1 0.342105263 ENSG00000187556 chr19:13880472-13880472;C/T missense_variant False NANP@p.D14H 1 0.291666667 ENSG00000170191 chr20:25623909-25623909;C/G missense_variant False NANP@p.E44Q 1 0.390625 ENSG00000170191 chr20:25616542-25616542;C/G missense_variant False NAP1L1@p.D15H 1 0.11637931 ENSG00000187109 chr12:76068969-76068969;C/G missense_variant False NALCN@p.A310T 1 0.218181818 ENSG00000102452 chr13:101292238-101292238;C/T missense_variant False NAIF1@p.L135P 1 0.197183099 ENSG00000171169 chr9:128066698-128066698;A/G missense_variant False NACC1@p.M456I 1 0.117647059 ENSG00000160877 chr19:13138190-13138190;G/A missense_variant False NADSYN1@p.E140Q 1 0.494791667 ENSG00000172890 chr11:71472459-71472459;G/C missense_variant False NAE1@p.E239Q 1 0.228571429 ENSG00000159593 chr16:66816998-66816998;C/G missense_variant False NAE1@p.C460R 1 0.369127517 ENSG00000159593 chr16:66805979-66805979;A/G missense_variant False NADSYN1@p.R392H 1 0.214285714 ENSG00000172890 chr11:71482873-71482873;G/A missense_variant False NADSYN1@p.L70P 1 0.302752294 ENSG00000172890 chr11:71458490-71458490;T/C missense_variant False NADSYN1@p.E45Q 1 0.076923077 ENSG00000172890 chr11:71455157-71455157;G/C missense_variant False NADSYN1@p.E284D 1 0.466666667 ENSG00000172890 chr11:71478448-71478448;G/T missense_variant False NADSYN1@p.D448Y 1 0.15942029 ENSG00000172890 chr11:71484334-71484334;G/T missense_variant False NAGS@p.E422K 1 0.188679245 ENSG00000161653 chr17:44007490-44007490;G/A missense_variant False NADK@p.E144Q 1 0.30952381 ENSG00000008130 chr1:1756572-1756572;C/G missense_variant False NADK2@p.P195L 1 0.415584416 ENSG00000152620 chr5:36219656-36219656;G/A missense_variant False NACC1@p.V34M 1 0.267605634 ENSG00000160877 chr19:13135307-13135307;G/A missense_variant False NACC1@p.T103M 1 0.314285714 ENSG00000160877 chr19:13135515-13135515;C/T missense_variant False NACC1@p.S64Gfs*87 1 0.489361702 ENSG00000160877 chr19:13135396-13135415;CAGCGCCGTGGTGGAGCTGC/- frameshift_variant False NACC1@p.R400Q 1 0.111111111 ENSG00000160877 chr19:13137349-13137349;G/A missense_variant False NAE1@p.H23Y 1 0.1 ENSG00000159593 chr16:66826767-66826767;G/A missense_variant False NAE1@p.S367F 1 0.078947368 ENSG00000159593 chr16:66810707-66810707;G/A missense_variant False NAF1@p.P32A 1 0.5 ENSG00000145414 chr4:163166634-163166634;G/C missense_variant False NAF1@p.S114L 1 0.5 ENSG00000145414 chr4:163166387-163166387;G/A missense_variant False NAF1@p.S118L 1 0.55 ENSG00000145414 chr4:163166375-163166375;G/A missense_variant False NAGA@p.M28I 1 0.179487179 ENSG00000198951 chr22:42068507-42068507;C/G missense_variant False NAGK@p.E222K 1 0.155844156 ENSG00000124357 chr2:71075639-71075639;G/A missense_variant False NAGK@p.E292Q 1 0.357142857 ENSG00000124357 chr2:71078347-71078347;G/C missense_variant False NAGK@p.N135D 1 0.121212121 ENSG00000124357 chr2:71072688-71072688;A/G missense_variant False NAGK@p.R14Q 1 0.24 ENSG00000124357 chr2:71070513-71070513;G/A missense_variant False NAGLU@p.E302Q 1 0.046413502 ENSG00000108784 chr17:42541089-42541089;G/C missense_variant False NAGLU@p.E386K 1 0.218487395 ENSG00000108784 chr17:42543162-42543162;G/A missense_variant False NAGLU@p.E608K 1 1.0 ENSG00000108784 chr17:42543828-42543828;G/A missense_variant False NAGLU@p.R375C 1 0.410041841 ENSG00000108784 chr17:42543129-42543129;C/T missense_variant False NAGPA@p.E147Q 1 0.708333333 ENSG00000103174 chr16:5033376-5033376;C/G missense_variant False NAGPA@p.E502K 1 0.201807229 ENSG00000103174 chr16:5025522-5025522;C/T missense_variant False NAGPA@p.S474Y 1 0.285714286 ENSG00000103174 chr16:5025605-5025605;G/T missense_variant False NEK10@p.S696F 1 0.425 ENSG00000163491 chr3:27256299-27256299;G/A missense_variant False NEK10@p.S795C 1 0.3 ENSG00000163491 chr3:27192150-27192150;G/C missense_variant False NEK10@p.S952L 1 0.38028169 ENSG00000163491 chr3:27162715-27162715;G/A missense_variant False NLRP7@p.G219S 1 0.568181818 ENSG00000167634 chr19:54940164-54940164;C/T missense_variant False NLRP7@p.P973H 1 0.34351145 ENSG00000167634 chr19:54923765-54923765;G/T missense_variant False NLRP7@p.L922F 1 0.283105023 ENSG00000167634 chr19:54930545-54930545;G/A missense_variant False NLRP7@p.L557F 1 0.274336283 ENSG00000167634 chr19:54939150-54939150;G/A missense_variant False NLRP7@p.K957del 1 0.287878788 ENSG00000167634 chr19:54923810-54923812;TTC/- inframe_deletion False NLRP7@p.I915L 1 0.08040201 ENSG00000167634 chr19:54930566-54930566;T/A missense_variant False NLRP7@p.I248T 1 0.495192308 ENSG00000167634 chr19:54940076-54940076;A/G missense_variant False NLRP7@p.D237N 1 0.213872832 ENSG00000167634 chr19:54940110-54940110;C/T missense_variant False NLRP7@p.W231L 1 0.351851852 ENSG00000167634 chr19:54940127-54940127;C/A missense_variant False NLRP6@p.Q859R 1 0.346153846 ENSG00000174885 chr11:285201-285201;A/G missense_variant False NLRP6@p.Q500H 1 0.350649351 ENSG00000174885 chr11:281234-281234;G/C missense_variant False NLRP6@p.E630G 1 0.270462633 ENSG00000174885 chr11:281623-281623;A/G missense_variant False NLRP6@p.A645T 1 0.470046083 ENSG00000174885 chr11:281667-281667;G/A missense_variant False NLRP5@p.V479L 1 0.236842105 ENSG00000171487 chr19:56027668-56027668;G/T missense_variant False NLRP5@p.V316D 1 0.391304348 ENSG00000171487 chr19:56027180-56027180;T/A missense_variant False NLRP7@p.S685G 1 0.334782609 ENSG00000167634 chr19:54938120-54938120;T/C missense_variant False NLRP8@p.A700P 1 0.173228346 ENSG00000179709 chr19:55962122-55962122;G/C missense_variant False NKIRAS2@p.P132R 1 0.14953271 ENSG00000168256 chr17:42023712-42023712;C/G missense_variant False NLRP8@p.S645F 1 0.46728972 ENSG00000179709 chr19:55955992-55955992;C/T missense_variant False NLRP9@p.G438A 1 0.446927374 ENSG00000185792 chr19:55732518-55732518;C/G missense_variant False NLRP9@p.E424Q 1 0.210526316 ENSG00000185792 chr19:55732561-55732561;C/G missense_variant False NLRP9@p.E401Q 1 0.134831461 ENSG00000185792 chr19:55732630-55732630;C/G missense_variant False NLRP9@p.D941N 1 0.151515152 ENSG00000185792 chr19:55711822-55711822;C/T missense_variant False NLRP8@p.T485A 1 0.04379562 ENSG00000179709 chr19:55955511-55955511;A/G missense_variant False NLRP8@p.T251M 1 0.325 ENSG00000179709 chr19:55954810-55954810;C/T missense_variant False NLRP8@p.R494W 1 0.080213904 ENSG00000179709 chr19:55955538-55955538;C/T missense_variant False NLRP8@p.D881H 1 0.046875 ENSG00000179709 chr19:55973758-55973758;G/C missense_variant False NLRP8@p.P802S 1 0.142045455 ENSG00000179709 chr19:55970566-55970566;C/T missense_variant False NLRP8@p.P349A 1 0.146551724 ENSG00000179709 chr19:55955103-55955103;C/G missense_variant False NLRP8@p.L988F 1 0.098484848 ENSG00000179709 chr19:55979481-55979481;G/C missense_variant False NLRP8@p.L793V 1 0.388235294 ENSG00000179709 chr19:55966376-55966376;C/G missense_variant False NLRP8@p.G210R 1 0.144927536 ENSG00000179709 chr19:55954686-55954686;G/A missense_variant False NLRP8@p.E247Q 1 0.19047619 ENSG00000179709 chr19:55954797-55954797;G/C missense_variant False NLRP5@p.R734W 1 0.239583333 ENSG00000171487 chr19:56028433-56028433;C/T missense_variant False NLRP5@p.R456C 1 0.382352941 ENSG00000171487 chr19:56027599-56027599;C/T missense_variant False NLRP5@p.P745L 1 0.124637681 ENSG00000171487 chr19:56028467-56028467;C/T missense_variant False NLRP3@p.D208H 1 0.081081081 ENSG00000162711 chr1:247424071-247424071;G/C missense_variant False NLRP3@p.Q357L 1 0.188118812 ENSG00000162711 chr1:247424519-247424519;A/T missense_variant False NLRP3@p.N477K 1 0.413793103 ENSG00000162711 chr1:247424880-247424880;C/G missense_variant False NLRP3@p.L1026V 1 0.065217391 ENSG00000162711 chr1:247448475-247448475;C/G missense_variant False NLRP3@p.F408V 1 0.1 ENSG00000162711 chr1:247424671-247424671;T/G missense_variant False NLRP3@p.E652K 1 0.22 ENSG00000162711 chr1:247425403-247425403;G/A missense_variant False NLRP3@p.E634K 1 0.4 ENSG00000162711 chr1:247425349-247425349;G/A missense_variant False NLRP2@p.T572S 1 0.557692308 ENSG00000022556 chr19:54983412-54983412;A/T missense_variant False NLRP5@p.P731L 1 0.492753623 ENSG00000171487 chr19:56028425-56028425;C/T missense_variant False NLRP2@p.S206L 1 0.1953125 ENSG00000022556 chr19:54982315-54982315;C/T missense_variant False NLRP2@p.R745Q 1 0.218181818 ENSG00000022556 chr19:54986183-54986183;G/A missense_variant False NLRP2@p.Q624E 1 0.642857143 ENSG00000022556 chr19:54983568-54983568;C/G missense_variant False NLRP2@p.N707D 1 0.460869565 ENSG00000022556 chr19:54985135-54985135;A/G missense_variant False NLRP2@p.L870V 1 0.032 ENSG00000022556 chr19:54990572-54990572;C/G missense_variant False NLRP2@p.K1000N 1 0.158469945 ENSG00000022556 chr19:54997437-54997437;G/C missense_variant False NLRP3@p.S599C 1 0.120481928 ENSG00000162711 chr1:247425245-247425245;C/G missense_variant False NLRP3@p.T895M 1 0.384615385 ENSG00000162711 chr1:247443992-247443992;C/T missense_variant False NLRP3@p.V198* 1 0.15625 ENSG00000162711 chr1:247424037-247424037;C/- frameshift_variant False NLRP4@p.D360Y 1 0.4875 ENSG00000160505 chr19:55858471-55858471;G/T missense_variant False NLRP4@p.E124K 1 0.336065574 ENSG00000160505 chr19:55857763-55857763;G/A missense_variant False NLRP4@p.E354K 1 0.371428571 ENSG00000160505 chr19:55858453-55858453;G/A missense_variant False NLRP4@p.E829K 1 0.098484848 ENSG00000160505 chr19:55870957-55870957;G/A missense_variant False NLRP4@p.F188L 1 0.074626866 ENSG00000160505 chr19:55857957-55857957;C/A missense_variant False NLRP4@p.F788L 1 0.196969697 ENSG00000160505 chr19:55870836-55870836;C/A missense_variant False NLRP4@p.H790P 1 0.074468085 ENSG00000160505 chr19:55870841-55870841;A/C missense_variant False NLRP4@p.I581T 1 0.102040816 ENSG00000160505 chr19:55859135-55859135;T/C missense_variant False NLRP4@p.L240F 1 0.302083333 ENSG00000160505 chr19:55858113-55858113;G/C missense_variant False NLRP4@p.P215S 1 0.3 ENSG00000160505 chr19:55858036-55858036;C/T missense_variant False NLRP4@p.V282M 1 0.309859155 ENSG00000160505 chr19:55858237-55858237;G/A missense_variant False NLRP5@p.A11G 1 0.063218391 ENSG00000171487 chr19:55999757-55999757;C/G missense_variant False NLRP5@p.C957S 1 0.169354839 ENSG00000171487 chr19:56041005-56041005;G/C missense_variant False NLRP5@p.E851D 1 0.095238095 ENSG00000171487 chr19:56033647-56033647;A/T missense_variant False NLRP9@p.K715N 1 0.162162162 ENSG00000185792 chr19:55723994-55723994;C/G missense_variant False NLRP9@p.L754F 1 0.138888889 ENSG00000185792 chr19:55716796-55716796;C/G missense_variant False NLRP9@p.L84F 1 0.455629139 ENSG00000185792 chr19:55738125-55738125;G/A missense_variant False NMRAL1@p.R277K 1 0.044728435 ENSG00000153406 chr16:4461850-4461850;C/T missense_variant False NMT1@p.F447Lfs*23 1 0.125 ENSG00000136448 chr17:45104865-45104865;T/- frameshift_variant False NMT1@p.D345H 1 0.454545455 ENSG00000136448 chr17:45102990-45102990;G/C missense_variant False NMT1@p.C30R 1 0.8 ENSG00000136448 chr17:45061417-45061417;T/C missense_variant False NMRK2@p.I44T 1 0.684210526 ENSG00000077009 chr19:3937253-3937253;T/C missense_variant False NMRK1@p.T3P 1 0.2 ENSG00000106733 chr9:75083109-75083109;T/G missense_variant False NMRK1@p.D144H 1 0.175824176 ENSG00000106733 chr9:75069062-75069062;C/G missense_variant False NMRAL1@p.K202N 1 0.435483871 ENSG00000153406 chr16:4463774-4463774;C/G missense_variant False NME9@p.E139K 1 0.126027397 ENSG00000181322 chr3:138314377-138314377;C/T missense_variant False NMRAL1@p.G11E 1 0.6 ENSG00000153406 chr16:4474101-4474101;C/T missense_variant False NMNAT3@p.R64Q 1 0.288888889 ENSG00000163864 chr3:139578974-139578974;C/T missense_variant False NMNAT2@p.E190K 1 0.098765432 ENSG00000157064 chr1:183284001-183284001;C/T missense_variant False NME9@p.S297N 1 0.170731707 ENSG00000181322 chr3:138303545-138303545;C/T missense_variant False NME9@p.E67K 1 0.416666667 ENSG00000181322 chr3:138318216-138318216;C/T missense_variant False NME9@p.E194Q 1 0.247252747 ENSG00000181322 chr3:138306060-138306060;C/G missense_variant False NMT1@p.G492A 1 0.166666667 ENSG00000136448 chr17:45105623-45105623;G/C missense_variant False NMT2@p.D143H 1 0.129310345 ENSG00000152465 chr10:15133328-15133328;C/G missense_variant False NMT2@p.K461N 1 0.315217391 ENSG00000152465 chr10:15109795-15109795;C/G missense_variant False NMT2@p.K47N 1 0.222222222 ENSG00000152465 chr10:15141527-15141527;C/G missense_variant False NMT2@p.M437I 1 0.53271028 ENSG00000152465 chr10:15112823-15112823;C/G missense_variant False NMT2@p.R217T 1 0.219178082 ENSG00000152465 chr10:15132886-15132886;C/G missense_variant False NMU@p.M86T 1 0.632911392 ENSG00000109255 chr4:55609142-55609142;A/G missense_variant False NMU@p.P40A 1 0.097560976 ENSG00000109255 chr4:55630455-55630455;G/C missense_variant False NNAT@p.R39Q 1 0.294117647 ENSG00000053438 chr20:37522401-37522401;G/A missense_variant False NNMT@p.D158H 1 0.328358209 ENSG00000166741 chr11:114312154-114312154;G/C missense_variant False NNMT@p.D61N 1 0.145631068 ENSG00000166741 chr11:114297977-114297977;G/A missense_variant False NNMT@p.G65D 1 0.408163265 ENSG00000166741 chr11:114297990-114297990;G/A missense_variant False NNT@p.E275Q 1 0.103092784 ENSG00000112992 chr5:43628246-43628246;G/C missense_variant False NNT@p.F585L 1 0.145089286 ENSG00000112992 chr5:43651776-43651776;C/G missense_variant False NNT@p.H370D 1 0.425 ENSG00000112992 chr5:43644620-43644620;C/G missense_variant False NNT@p.H514D 1 0.053571429 ENSG00000112992 chr5:43649242-43649242;C/G missense_variant False NNT@p.S553Y 1 0.265060241 ENSG00000112992 chr5:43650528-43650528;C/A missense_variant False NME9@p.E188Q 1 0.146067416 ENSG00000181322 chr3:138306078-138306078;C/G missense_variant False NME8@p.R175G 1 0.1875 ENSG00000086288 chr7:37864416-37864416;A/G missense_variant False NLRP9@p.M128I 1 0.353846154 ENSG00000185792 chr19:55733447-55733447;C/T missense_variant False NLRX1@p.R92G 1 0.275862069 ENSG00000160703 chr11:119173523-119173523;C/G missense_variant False NMBR@p.S3C 1 0.363636364 ENSG00000135577 chr6:142088651-142088651;G/C missense_variant False NMBR@p.S102W 1 0.384615385 ENSG00000135577 chr6:142088354-142088354;G/C missense_variant False NMBR@p.R289W 1 0.452830189 ENSG00000135577 chr6:142075956-142075956;G/A missense_variant False NMBR@p.R103C 1 0.838709677 ENSG00000135577 chr6:142088352-142088352;G/A missense_variant False NMBR@p.Q203E 1 0.466321244 ENSG00000135577 chr6:142078719-142078719;G/C missense_variant False NLRX1@p.S787C 1 0.307407407 ENSG00000160703 chr11:119182099-119182099;C/G missense_variant False NLRX1@p.Q596H 1 0.35443038 ENSG00000160703 chr11:119179809-119179809;G/C missense_variant False NME8@p.Q468H 1 0.24137931 ENSG00000086288 chr7:37894470-37894470;G/C missense_variant False NLRX1@p.G723R 1 0.35 ENSG00000160703 chr11:119180188-119180188;G/A missense_variant False NLRX1@p.E200K 1 0.438596491 ENSG00000160703 chr11:119173847-119173847;G/A missense_variant False NLRX1@p.D112N 1 0.407407407 ENSG00000160703 chr11:119173583-119173583;G/A missense_variant False NLRP9@p.S305W 1 0.104 ENSG00000185792 chr19:55732917-55732917;G/C missense_variant False NLRP9@p.R288W 1 0.48 ENSG00000185792 chr19:55732969-55732969;G/A missense_variant False NLRP9@p.N363Y 1 0.52173913 ENSG00000185792 chr19:55732744-55732744;T/A missense_variant False NMD3@p.D285H 1 0.095238095 ENSG00000169251 chr3:161241145-161241145;G/C missense_variant False NMD3@p.E314Q 1 0.172043011 ENSG00000169251 chr3:161242576-161242576;G/C missense_variant False NMD3@p.E447K 1 0.359375 ENSG00000169251 chr3:161250284-161250284;G/A missense_variant False NMD3@p.I42F 1 0.064102564 ENSG00000169251 chr3:161225009-161225009;A/T missense_variant False NMD3@p.Q229E 1 0.244444444 ENSG00000169251 chr3:161238758-161238758;C/G missense_variant False NMD3@p.R477Q 1 0.441558442 ENSG00000169251 chr3:161250828-161250828;G/A missense_variant False NME1-NME2@p.D22N 1 0.61038961 ENSG00000011052 chr17:51154437-51154437;G/A missense_variant False NME1@p.C4Y 1 0.323529412 ENSG00000239672 chr17:51155665-51155665;G/A missense_variant False NME1@p.E127Q 1 0.244444444 ENSG00000239672 chr17:51161765-51161765;G/C missense_variant False NME3@p.S104L 1 0.172413793 ENSG00000103024 chr16:1770962-1770962;G/A missense_variant False NME5@p.E27K 1 0.375 ENSG00000112981 chr5:138138702-138138702;C/T missense_variant False NME5@p.I34L 1 0.194444444 ENSG00000112981 chr5:138138681-138138681;T/G missense_variant False NME5@p.N198K 1 0.340909091 ENSG00000112981 chr5:138115726-138115726;G/C missense_variant False NME6@p.F68L 1 0.533333333 ENSG00000172113 chr3:48296148-48296148;G/C missense_variant False NME7@p.H43Y 1 0.39 ENSG00000143156 chr1:169323268-169323268;G/A missense_variant False NME7@p.I158T 1 0.186440678 ENSG00000143156 chr1:169298731-169298731;A/G missense_variant False NME8@p.E276Q 1 0.253968254 ENSG00000086288 chr7:37876839-37876839;G/C missense_variant False NLRP2@p.I352M 1 0.444444444 ENSG00000022556 chr19:54982754-54982754;C/G missense_variant False NLRP2@p.H466Y 1 0.428571429 ENSG00000022556 chr19:54983094-54983094;C/T missense_variant False NLRP2@p.F514L 1 0.381443299 ENSG00000022556 chr19:54983240-54983240;C/G missense_variant False NLGN1@p.A503V 1 0.205882353 ENSG00000169760 chr3:174279509-174279509;C/T missense_variant False NLGN1@p.K701N 1 0.49382716 ENSG00000169760 chr3:174280934-174280934;G/T missense_variant False NLGN1@p.I65S 1 0.086206897 ENSG00000169760 chr3:173604792-173604792;T/G missense_variant False NLGN1@p.I204S 1 0.281690141 ENSG00000169760 chr3:173807797-173807797;T/G missense_variant False NLGN1@p.I122T 1 0.650406504 ENSG00000169760 chr3:173604963-173604963;T/C missense_variant False NLGN1@p.E745K 1 0.264150943 ENSG00000169760 chr3:174281064-174281064;G/A missense_variant False NLGN1@p.A684T 1 0.323943662 ENSG00000169760 chr3:174280881-174280881;G/A missense_variant False NLE1@p.W164C 1 0.050847458 ENSG00000073536 chr17:35137859-35137859;C/A missense_variant False NKX2-5@p.E126K 1 0.5 ENSG00000183072 chr5:173233168-173233168;C/T missense_variant False NLE1@p.V70I 1 0.08 ENSG00000073536 chr17:35140021-35140021;C/T missense_variant False NKX6-3@p.S224W 1 0.555555556 ENSG00000165066 chr8:41646576-41646576;G/C missense_variant False NKX6-3@p.R195W 1 0.357142857 ENSG00000165066 chr8:41646664-41646664;G/A missense_variant False NKX6-1@p.L330V 1 0.147540984 ENSG00000163623 chr4:84493405-84493405;G/C missense_variant False NKX3-2@p.A241V 1 0.384615385 ENSG00000109705 chr4:13542273-13542273;G/A missense_variant False NKX2-8@p.R143C 1 0.357142857 ENSG00000136327 chr14:36581195-36581195;G/A missense_variant False NLGN1@p.M373I 1 0.328947368 ENSG00000169760 chr3:174279120-174279120;G/A missense_variant False NLGN1@p.Q308L 1 0.333333333 ENSG00000169760 chr3:174278924-174278924;A/T missense_variant False NLGN1@p.Q580K 1 0.439252336 ENSG00000169760 chr3:174280569-174280569;C/A missense_variant False NLGN2@p.D497N 1 0.454545455 ENSG00000169992 chr17:7415962-7415962;G/A missense_variant False NLGN3@p.E139K 1 0.183098592 ENSG00000196338 chrX:71148164-71148164;G/A missense_variant False NLGN3@p.E452Q 1 0.088235294 ENSG00000196338 chrX:71167451-71167451;G/C missense_variant False NLGN3@p.P103S 1 0.222222222 ENSG00000196338 chrX:71148056-71148056;C/T missense_variant False NLGN3@p.S432C 1 0.391304348 ENSG00000196338 chrX:71167392-71167392;C/G missense_variant False NLGN4X@p.H267R 1 0.36 ENSG00000146938 chrX:5909065-5909065;T/C missense_variant False NLGN4X@p.M20L 1 0.666666667 ENSG00000146938 chrX:6151409-6151409;T/A missense_variant False NLGN4Y@p.D345N 1 0.25 ENSG00000165246 chrY:14829951-14829951;G/A missense_variant False NLGN4Y@p.E555Q 1 0.245901639 ENSG00000165246 chrY:14840474-14840474;G/C missense_variant False NLGN4Y@p.H160Y 1 0.106382979 ENSG00000165246 chrY:14723122-14723122;C/T missense_variant False NLGN4Y@p.S107F 1 0.461538462 ENSG00000165246 chrY:14622439-14622439;C/T missense_variant False NLK@p.D428H 1 0.234693878 ENSG00000087095 chr17:28191066-28191066;G/C missense_variant False NLK@p.H131Y 1 0.333333333 ENSG00000087095 chr17:28043264-28043264;C/T missense_variant False NLK@p.K414E 1 0.438596491 ENSG00000087095 chr17:28191024-28191024;A/G missense_variant False NKX2-5@p.F51L 1 0.307692308 ENSG00000183072 chr5:173234931-173234931;G/C missense_variant False NKX2-5@p.D101N 1 0.297297297 ENSG00000183072 chr5:173234783-173234783;C/T missense_variant False NLK@p.S199P 1 0.416666667 ENSG00000087095 chr17:28132626-28132626;T/C missense_variant False NKTR@p.E368K 1 0.375 ENSG00000114857 chr3:42635305-42635305;G/A missense_variant False NKTR@p.R546G 1 0.248484848 ENSG00000114857 chr3:42637340-42637340;C/G missense_variant False NKTR@p.R1364T 1 0.365079365 ENSG00000114857 chr3:42642545-42642545;G/C missense_variant False NKTR@p.R1010Q 1 0.203703704 ENSG00000114857 chr3:42638733-42638733;G/A missense_variant False NKTR@p.M475I 1 0.225806452 ENSG00000114857 chr3:42637129-42637129;G/C missense_variant False NKTR@p.L941M 1 0.156862745 ENSG00000114857 chr3:42638525-42638525;C/A missense_variant False NKTR@p.I1051V 1 0.52 ENSG00000114857 chr3:42638855-42638855;A/G missense_variant False NKTR@p.D943N 1 0.227272727 ENSG00000114857 chr3:42638531-42638531;G/A missense_variant False NKX2-3@p.R207P 1 0.25 ENSG00000119919 chr10:99535246-99535246;G/C missense_variant False NKTR@p.D167H 1 0.246575342 ENSG00000114857 chr3:42631265-42631265;G/C missense_variant False NKTR@p.D1135H 1 0.325301205 ENSG00000114857 chr3:42639107-42639107;G/C missense_variant False NKRF@p.R56C 1 0.287037037 ENSG00000186416 chrX:119591259-119591259;G/A missense_variant False NKRF@p.Q585K 1 0.365461847 ENSG00000186416 chrX:119589672-119589672;G/T missense_variant False NKRF@p.N690S 1 0.666666667 ENSG00000186416 chrX:119589356-119589356;T/C missense_variant False NKPD1@p.S481C 1 0.681818182 ENSG00000179846 chr19:45152995-45152995;G/C missense_variant False NKTR@p.R802T 1 0.3046875 ENSG00000114857 chr3:42638109-42638109;G/C missense_variant False NKTR@p.R842T 1 0.23880597 ENSG00000114857 chr3:42638229-42638229;G/C missense_variant False NKTR@p.S1445N 1 0.342857143 ENSG00000114857 chr3:42645920-42645920;G/A missense_variant False NKTR@p.S270P 1 0.37593985 ENSG00000114857 chr3:42633614-42633614;T/C missense_variant False NKTR@p.S523F 1 0.095744681 ENSG00000114857 chr3:42637272-42637272;C/T missense_variant False NKTR@p.S557F 1 0.183098592 ENSG00000114857 chr3:42637374-42637374;C/T missense_variant False NKTR@p.S808F 1 0.191919192 ENSG00000114857 chr3:42638127-42638127;C/T missense_variant False NKX2-1@p.S12L 1 0.727272727 ENSG00000136352 chr14:36519323-36519323;G/A missense_variant False NKX2-2@p.A138V 1 0.25 ENSG00000125820 chr20:21512332-21512332;G/A missense_variant False NKX2-2@p.A226T 1 0.096774194 ENSG00000125820 chr20:21512069-21512069;C/T missense_variant False NKX2-2@p.D222N 1 0.620689655 ENSG00000125820 chr20:21512081-21512081;C/T missense_variant False NKX2-2@p.E35Q 1 0.212121212 ENSG00000125820 chr20:21513567-21513567;C/G missense_variant False NKX2-2@p.E81K 1 0.416666667 ENSG00000125820 chr20:21513429-21513429;C/T missense_variant False NKX2-2@p.G9V 1 0.083333333 ENSG00000125820 chr20:21513644-21513644;C/A missense_variant False NKX2-2@p.R129Q 1 0.5 ENSG00000125820 chr20:21512359-21512359;C/T missense_variant False NKX2-2@p.R132P 1 0.173913043 ENSG00000125820 chr20:21512350-21512350;C/G missense_variant False NKX2-3@p.K204N 1 0.416666667 ENSG00000119919 chr10:99535238-99535238;G/C missense_variant False NLK@p.M365I 1 0.19047619 ENSG00000087095 chr17:28172564-28172564;G/C missense_variant False NLN@p.E86Q 1 0.146551724 ENSG00000123213 chr5:65758781-65758781;G/C missense_variant False NLRP2@p.E896K 1 0.178571429 ENSG00000022556 chr19:54990650-54990650;G/A missense_variant False NLRP12@p.I292V 1 0.413793103 ENSG00000142405 chr19:53810785-53810785;T/C missense_variant False NLRP13@p.E297K 1 0.125 ENSG00000173572 chr19:55912928-55912928;C/T missense_variant False NLRP13@p.E297G 1 0.098484848 ENSG00000173572 chr19:55912927-55912927;T/C missense_variant False NLRP12@p.Q257H 1 0.238095238 ENSG00000142405 chr19:53810888-53810888;C/G missense_variant False NLRP12@p.N894D 1 0.519230769 ENSG00000142405 chr19:53801303-53801303;T/C missense_variant False NLRP12@p.N769S 1 0.456790123 ENSG00000142405 chr19:53805388-53805388;T/C missense_variant False NLRP12@p.L226P 1 0.14893617 ENSG00000142405 chr19:53810982-53810982;A/G missense_variant False NLRP12@p.A549P 1 0.311111111 ENSG00000142405 chr19:53810014-53810014;C/G missense_variant False NLRP11@p.A268T 1 0.169230769 ENSG00000179873 chr19:55809808-55809808;C/T missense_variant False NLRP11@p.T962N 1 0.37254902 ENSG00000179873 chr19:55785842-55785842;G/T missense_variant False NLRP11@p.R482I 1 0.100917431 ENSG00000179873 chr19:55809165-55809165;C/A missense_variant False NLRP11@p.L862R 1 0.211382114 ENSG00000179873 chr19:55789328-55789328;A/C missense_variant False NLRP11@p.K222E 1 0.222222222 ENSG00000179873 chr19:55809946-55809946;T/C missense_variant False NLRP11@p.E920Q 1 0.160493827 ENSG00000179873 chr19:55788904-55788904;C/G missense_variant False NLRP11@p.E679K 1 0.090909091 ENSG00000179873 chr19:55801708-55801708;C/T missense_variant False NLRP13@p.E406Q 1 0.403846154 ENSG00000173572 chr19:55912601-55912601;C/G missense_variant False NLRP13@p.G478R 1 0.076923077 ENSG00000173572 chr19:55912385-55912385;C/G missense_variant False NLRP13@p.G942E 1 0.5 ENSG00000173572 chr19:55898902-55898902;C/T missense_variant False NLRP13@p.N183Y 1 0.140186916 ENSG00000173572 chr19:55913270-55913270;T/A missense_variant False NLRP14@p.A866V 1 0.471544715 ENSG00000158077 chr11:7058414-7058414;C/T missense_variant False NLRP14@p.D686H 1 0.18018018 ENSG00000158077 chr11:7046765-7046765;G/C missense_variant False NLRP14@p.E833K 1 0.509615385 ENSG00000158077 chr11:7058314-7058314;G/A missense_variant False NLRP14@p.L709F 1 0.176470588 ENSG00000158077 chr11:7049674-7049674;G/T missense_variant False NLRP14@p.L810F 1 0.36 ENSG00000158077 chr11:7057815-7057815;A/C missense_variant False NLRP14@p.V635L 1 0.389473684 ENSG00000158077 chr11:7043929-7043929;G/T missense_variant False NLRP1@p.E228D 1 0.459459459 ENSG00000091592 chr17:5560012-5560012;C/G missense_variant False NLRP1@p.E256Q 1 0.948571429 ENSG00000091592 chr17:5559930-5559930;C/G missense_variant False NLRP1@p.E638Q 1 0.311688312 ENSG00000091592 chr17:5558784-5558784;C/G missense_variant False NLRP1@p.E654K 1 0.153846154 ENSG00000091592 chr17:5558736-5558736;C/T missense_variant False NLRP1@p.E739K 1 0.314814815 ENSG00000091592 chr17:5558481-5558481;C/T missense_variant False NLRP1@p.G4A 1 0.3 ENSG00000091592 chr17:5583947-5583947;C/G missense_variant False NLRP1@p.M967I 1 0.5 ENSG00000091592 chr17:5536910-5536910;C/A missense_variant False NLRP11@p.D80H 1 0.073170732 ENSG00000179873 chr19:55817937-55817937;C/G missense_variant False NLRP10@p.S326F 1 0.279069767 ENSG00000182261 chr11:7960635-7960635;G/A missense_variant False NLRC3@p.E5Q 1 0.538461538 ENSG00000167984 chr16:3565024-3565024;C/G missense_variant False NLRC4@p.E95Q 1 0.069444444 ENSG00000091106 chr2:32251581-32251581;C/G missense_variant False NLRC5@p.D1676N 1 0.073170732 ENSG00000140853 chr16:57077965-57077965;G/A missense_variant False NLRC4@p.Q348H 1 0.233333333 ENSG00000091106 chr2:32250820-32250820;C/G missense_variant False NLRC4@p.Q256H 1 0.15 ENSG00000091106 chr2:32251096-32251096;C/G missense_variant False NLRC4@p.Q219E 1 0.172413793 ENSG00000091106 chr2:32251209-32251209;G/C missense_variant False NLRC4@p.F408Y 1 0.727272727 ENSG00000091106 chr2:32250641-32250641;A/T missense_variant False NLRC4@p.F386L 1 0.133333333 ENSG00000091106 chr2:32250706-32250706;G/C missense_variant False NLRC4@p.E905K 1 0.06875 ENSG00000091106 chr2:32235470-32235470;C/T missense_variant False NLRP10@p.Q551H 1 0.241935484 ENSG00000182261 chr11:7959959-7959959;C/G missense_variant False NLRC4@p.E729K 1 0.148325359 ENSG00000091106 chr2:32249679-32249679;C/T missense_variant False NLRC4@p.E296Q 1 0.132653061 ENSG00000091106 chr2:32250978-32250978;C/G missense_variant False NLRC4@p.D676H 1 0.103703704 ENSG00000091106 chr2:32249838-32249838;C/G missense_variant False NLRC4@p.D482N 1 0.19047619 ENSG00000091106 chr2:32250420-32250420;C/T missense_variant False NLRC3@p.G590R 1 0.384615385 ENSG00000167984 chr16:3563169-3563169;C/T missense_variant False NLRC3@p.G432V 1 0.465116279 ENSG00000167984 chr16:3563642-3563642;C/A missense_variant False NLRC5@p.D559N 1 0.257142857 ENSG00000140853 chr16:57026618-57026618;G/A missense_variant False NLRC5@p.E1401D 1 0.216216216 ENSG00000140853 chr16:57065260-57065260;A/T missense_variant False NLRC5@p.E1460D 1 0.298701299 ENSG00000140853 chr16:57067444-57067444;G/C missense_variant False NLRC5@p.E1495Q 1 0.326923077 ENSG00000140853 chr16:57067812-57067812;G/C missense_variant False NLRC5@p.H1689Q 1 0.586206897 ENSG00000140853 chr16:57078006-57078006;C/A missense_variant False NLRC5@p.H378N 1 0.144827586 ENSG00000140853 chr16:57026075-57026075;C/A missense_variant False NLRC5@p.K591M 1 0.607843137 ENSG00000140853 chr16:57026715-57026715;A/T missense_variant False NLRC5@p.L1264V 1 0.5 ENSG00000140853 chr16:57058108-57058108;C/G missense_variant False NLRC5@p.Q1755H 1 0.301075269 ENSG00000140853 chr16:57079573-57079573;G/T missense_variant False NLRC5@p.Q52H 1 0.212121212 ENSG00000140853 chr16:57020868-57020868;G/C missense_variant False NLRC5@p.R222K 1 0.275862069 ENSG00000140853 chr16:57025608-57025608;G/A missense_variant False NLRC5@p.R729Q 1 0.261111111 ENSG00000140853 chr16:57028328-57028328;G/A missense_variant False NLRC5@p.V784M 1 0.238636364 ENSG00000140853 chr16:57030017-57030017;G/A missense_variant False NLRP10@p.A457V 1 0.201754386 ENSG00000182261 chr11:7960242-7960242;G/A missense_variant False NLRP10@p.E503D 1 0.560606061 ENSG00000182261 chr11:7960103-7960103;C/G missense_variant False NLRP10@p.E647Q 1 0.5 ENSG00000182261 chr11:7959673-7959673;C/G missense_variant False NLRP10@p.L608F 1 0.142857143 ENSG00000182261 chr11:7959788-7959788;C/G missense_variant False NNT@p.S815C 1 0.327586207 ENSG00000112992 chr5:43656803-43656803;C/G missense_variant False NOA1@p.D362N 1 0.5 ENSG00000084092 chr4:56976502-56976502;C/T missense_variant False NOA1@p.D465H 1 0.063492063 ENSG00000084092 chr4:56973270-56973270;C/G missense_variant False NOS3@p.E767K 1 0.428571429 ENSG00000164867 chr7:151009242-151009242;G/A missense_variant False NOSTRIN@p.D256H 1 0.5 ENSG00000163072 chr2:168851315-168851315;G/C missense_variant False NOSIP@p.P150S 1 0.333333333 ENSG00000142546 chr19:49556964-49556964;G/A missense_variant False NOSIP@p.E170K 1 0.2 ENSG00000142546 chr19:49556904-49556904;C/T missense_variant False NOS3@p.R285H 1 0.203296703 ENSG00000164867 chr7:150998983-150998983;G/A missense_variant False NOS3@p.Q532H 1 0.306451613 ENSG00000164867 chr7:151001914-151001914;G/C missense_variant False NOS3@p.K5N 1 0.225 ENSG00000164867 chr7:150993818-150993818;G/C missense_variant False NOS3@p.E555K 1 0.380952381 ENSG00000164867 chr7:151002215-151002215;G/A missense_variant False NOS2@p.R1017H 1 0.140740741 ENSG00000007171 chr17:27760139-27760139;C/T missense_variant False NOS3@p.E308K 1 0.390804598 ENSG00000164867 chr7:150999051-150999051;G/A missense_variant False NOS3@p.E301K 1 0.168674699 ENSG00000164867 chr7:150999030-150999030;G/A missense_variant False NOS3@p.E167D 1 0.428571429 ENSG00000164867 chr7:150996844-150996844;G/C missense_variant False NOS3@p.E1134K 1 0.391304348 ENSG00000164867 chr7:151013868-151013868;G/A missense_variant False NOS2@p.Y299C 1 0.448275862 ENSG00000007171 chr17:27780875-27780875;T/C missense_variant False NOS2@p.R687Q 1 0.151162791 ENSG00000007171 chr17:27767812-27767812;C/T missense_variant False NOSTRIN@p.M408I 1 0.245454545 ENSG00000163072 chr2:168860839-168860839;G/A missense_variant False NOTCH1@p.D1972Sfs*5 1 0.231707317 ENSG00000148400 chr9:136500561-136500573;ACCTTGTGCGTCG/- frameshift_variant True NOTCH1@p.D260Y 1 0.422413793 ENSG00000148400 chr9:136519530-136519530;C/A missense_variant True NOTCH1@p.D651N 1 0.346666667 ENSG00000148400 chr9:136515353-136515353;C/T missense_variant True NOTCH1@p.E639K 1 0.68 ENSG00000148400 chr9:136515389-136515389;C/T missense_variant True NOTCH1@p.K538N 1 0.513513514 ENSG00000148400 chr9:136516036-136516036;C/G missense_variant True NOTCH1@p.N1484I 1 0.189655172 ENSG00000148400 chr9:136505445-136505445;T/A missense_variant True NOTCH1@p.P2332L 1 0.363636364 ENSG00000148400 chr9:136496744-136496744;G/A missense_variant True NOTCH1@p.S1856F 1 0.25 ENSG00000148400 chr9:136501819-136501819;G/A missense_variant True NOTCH1@p.S2521F 1 0.215686275 ENSG00000148400 chr9:136496177-136496177;G/A missense_variant True NOTCH1@p.S402L 1 0.235294118 ENSG00000148400 chr9:136518187-136518187;G/A missense_variant True NOTCH1@p.V2007M 1 0.404255319 ENSG00000148400 chr9:136499175-136499175;C/T missense_variant True NOTCH1@p.V2119M 1 0.275862069 ENSG00000148400 chr9:136497384-136497384;C/T missense_variant True NOTCH2@p.D1760N 1 0.102941176 ENSG00000134250 chr1:119921745-119921745;C/T missense_variant True NOTCH2@p.D1843H 1 0.363636364 ENSG00000134250 chr1:119919566-119919566;C/G missense_variant True NOTCH2@p.D1898N 1 0.222222222 ENSG00000134250 chr1:119919401-119919401;C/T missense_variant True NOTCH2@p.E1780K 1 0.198019802 ENSG00000134250 chr1:119920370-119920370;C/T missense_variant True NOS2@p.R301H 1 0.444444444 ENSG00000007171 chr17:27780869-27780869;C/T missense_variant False NOS2@p.M572V 1 0.727272727 ENSG00000007171 chr17:27771008-27771008;T/C missense_variant False NOTCH2@p.G2449A 1 0.244444444 ENSG00000134250 chr1:119915376-119915376;C/G missense_variant True NOP9@p.E349K 1 0.22556391 ENSG00000196943 chr14:24302326-24302326;G/A missense_variant False NOS1@p.E956Q 1 0.413793103 ENSG00000089250 chr12:117243393-117243393;C/G missense_variant False NOS1@p.D78N 1 0.171428571 ENSG00000089250 chr12:117330838-117330838;C/T missense_variant False NOP9@p.S229F 1 0.468085106 ENSG00000196943 chr14:24300846-24300846;C/T missense_variant False NOP9@p.H202Y 1 0.344827586 ENSG00000196943 chr14:24300764-24300764;C/T missense_variant False NOP9@p.G185E 1 0.222222222 ENSG00000196943 chr14:24300714-24300714;G/A missense_variant False NOP9@p.E92* 1 0.315789474 ENSG00000196943 chr14:24300430-24300433;GAAG/- frameshift_variant False NOP9@p.E333K 1 0.144736842 ENSG00000196943 chr14:24302278-24302278;G/A missense_variant False NOS2@p.M444I 1 0.134146341 ENSG00000007171 chr17:27774401-27774401;C/A missense_variant False NOP58@p.S431C 1 0.105263158 ENSG00000055044 chr2:202300257-202300257;C/G missense_variant False NOP58@p.S304F 1 0.139534884 ENSG00000055044 chr2:202295677-202295677;C/T missense_variant False NOP58@p.G320Qfs*6 1 0.393617021 ENSG00000055044 chr2:202295722-202295741;TTGGAGCTGAAAAGGCACTT/- frameshift_variant False NOP58@p.D91N 1 0.166666667 ENSG00000055044 chr2:202282446-202282446;G/A missense_variant False NOP56@p.K88Nfs*21 1 0.108910891 ENSG00000101361 chr20:2654469-2654472;GAAG/TAA frameshift_variant False NOP56@p.K557N 1 0.3 ENSG00000101361 chr20:2658180-2658180;G/C missense_variant False NOS1@p.H803D 1 0.077419355 ENSG00000089250 chr12:117259091-117259091;G/C missense_variant False NOS1@p.K1147R 1 0.202898551 ENSG00000089250 chr12:117227607-117227607;T/C missense_variant False NOS1@p.M233I 1 0.182692308 ENSG00000089250 chr12:117330371-117330371;C/A missense_variant False NOS1@p.M919I 1 0.194029851 ENSG00000089250 chr12:117247414-117247414;C/G missense_variant False NOS1@p.N959K 1 0.52293578 ENSG00000089250 chr12:117243382-117243382;G/C missense_variant False NOS1@p.R1178C 1 0.258426966 ENSG00000089250 chr12:117227515-117227515;G/A missense_variant False NOS1@p.S746W 1 0.119047619 ENSG00000089250 chr12:117260595-117260595;G/C missense_variant False NOS1@p.T934I 1 0.159090909 ENSG00000089250 chr12:117247370-117247370;G/A missense_variant False NOS1@p.V572M 1 0.285714286 ENSG00000089250 chr12:117272510-117272510;C/T missense_variant False NOS1AP@p.E324K 1 0.111111111 ENSG00000198929 chr1:162365434-162365434;G/A missense_variant False NOS1AP@p.E446Q 1 0.215189873 ENSG00000198929 chr1:162367282-162367282;G/C missense_variant False NOS1AP@p.E465Q 1 0.137931034 ENSG00000198929 chr1:162367339-162367339;G/C missense_variant False NOS1AP@p.R334C 1 0.36 ENSG00000198929 chr1:162365464-162365464;C/T missense_variant False NOS2@p.E614Q 1 0.276315789 ENSG00000007171 chr17:27769554-27769554;C/G missense_variant False NOS2@p.E855Q 1 0.302325581 ENSG00000007171 chr17:27764010-27764010;C/G missense_variant False NOS2@p.G602R 1 0.375 ENSG00000007171 chr17:27770918-27770918;C/T missense_variant False NOS2@p.K509Efs*65 1 0.1425 ENSG00000007171 chr17:27773194-27773195;TT/- frameshift_variant False NOTCH2@p.E253Q 1 0.202380952 ENSG00000134250 chr1:119987077-119987077;C/G missense_variant True NOTCH2@p.I2170F 1 0.12 ENSG00000134250 chr1:119916214-119916214;T/A missense_variant True NOP56@p.K451N 1 0.395061728 ENSG00000101361 chr20:2657152-2657152;G/C missense_variant False NOX4@p.K268N 1 0.37037037 ENSG00000086991 chr11:89402368-89402368;C/A missense_variant False NOX5@p.F65L 1 0.52247191 ENSG00000290203 chr15:69028235-69028235;C/A missense_variant False NOX5@p.F60L 1 0.158653846 ENSG00000290203 chr15:69028220-69028220;C/G missense_variant False NOX5@p.E156Q 1 0.413793103 ENSG00000290203 chr15:69031658-69031658;G/C missense_variant False NOX5@p.D280H 1 0.203703704 ENSG00000290203 chr15:69033260-69033260;G/C missense_variant False NOX4@p.S131L 1 0.230769231 ENSG00000086991 chr11:89444190-89444190;G/A missense_variant False NOX4@p.R488I 1 0.368421053 ENSG00000086991 chr11:89337499-89337499;C/A missense_variant False NOX4@p.I373T 1 0.698863636 ENSG00000086991 chr11:89373449-89373449;A/G missense_variant False NOX1@p.R43K 1 0.890410959 ENSG00000007952 chrX:100870732-100870732;C/T missense_variant False NOX4@p.H47Q 1 0.109375 ENSG00000086991 chr11:89490470-89490470;G/C missense_variant False NOX4@p.E140Q 1 0.235294118 ENSG00000086991 chr11:89444164-89444164;C/G missense_variant False NOX3@p.T479P 1 0.173076923 ENSG00000074771 chr6:155411234-155411234;T/G missense_variant False NOX3@p.H475Y 1 0.777777778 ENSG00000074771 chr6:155411246-155411246;G/A missense_variant False NOX3@p.E248K 1 0.329545455 ENSG00000074771 chr6:155436474-155436474;C/T missense_variant False NOX3@p.C443S 1 0.106382979 ENSG00000074771 chr6:155411341-155411341;C/G missense_variant False NOX5@p.H402Y 1 0.136752137 ENSG00000290203 chr15:69037043-69037043;C/T missense_variant False NOX5@p.R668H 1 0.256410256 ENSG00000290203 chr15:69055337-69055337;G/A missense_variant False NOXA1@p.E297Q 1 0.25 ENSG00000188747 chr9:137433243-137433243;G/C missense_variant False NOXO1@p.D271H 1 0.136363636 ENSG00000196408 chr16:1979447-1979447;C/G missense_variant False NOXO1@p.R265S 1 0.189189189 ENSG00000196408 chr16:1979465-1979465;G/T missense_variant False NOXRED1@p.D288Y 1 0.44 ENSG00000165555 chr14:77405956-77405956;C/A missense_variant False NOXRED1@p.L284F 1 0.111111111 ENSG00000165555 chr14:77405966-77405966;C/G missense_variant False NPAP1@p.A67V 1 0.576923077 ENSG00000185823 chr15:24676067-24676067;C/T missense_variant False NPAP1@p.E452D 1 0.082474227 ENSG00000185823 chr15:24677223-24677223;G/T missense_variant False NPAP1@p.E574K 1 0.058139535 ENSG00000185823 chr15:24677587-24677587;G/A missense_variant False NPAP1@p.H629Q 1 0.452380952 ENSG00000185823 chr15:24677754-24677754;C/A missense_variant False NPAP1@p.I820V 1 0.203463203 ENSG00000185823 chr15:24678325-24678325;A/G missense_variant False NPAP1@p.K719N 1 0.129310345 ENSG00000185823 chr15:24678024-24678024;G/T missense_variant False NPAP1@p.L786F 1 0.317708333 ENSG00000185823 chr15:24678223-24678223;C/T missense_variant False NPAP1@p.M122L 1 0.338095238 ENSG00000185823 chr15:24676231-24676231;A/C missense_variant False NPAP1@p.P931L 1 0.184210526 ENSG00000185823 chr15:24678659-24678659;C/T missense_variant False NPAP1@p.R849Q 1 0.481818182 ENSG00000185823 chr15:24678413-24678413;G/A missense_variant False NOX3@p.A361V 1 0.505617978 ENSG00000074771 chr6:155428857-155428857;G/A missense_variant False NOX1@p.H354Y 1 0.5 ENSG00000007952 chrX:100850224-100850224;G/A missense_variant False NOTCH2@p.L2241F 1 0.18852459 ENSG00000134250 chr1:119915999-119915999;C/G missense_variant True NOTCH3@p.E538K 1 0.368421053 ENSG00000074181 chr19:15187333-15187333;C/T missense_variant False NOTCH3@p.S1542L 1 0.384615385 ENSG00000074181 chr19:15174179-15174179;G/A missense_variant False NOTCH3@p.R169C 1 0.472222222 ENSG00000074181 chr19:15192134-15192134;G/A missense_variant False NOTCH3@p.R1568Q 1 0.203703704 ENSG00000074181 chr19:15174101-15174101;C/T missense_variant False NOTCH3@p.Q214H 1 0.115384615 ENSG00000074181 chr19:15191997-15191997;C/G missense_variant False NOTCH3@p.I1138Sfs*132 1 0.550925926 ENSG00000074181 chr19:15179406-15179412;GGTCAAT/- frameshift_variant False NOTCH3@p.H1690Y 1 0.307692308 ENSG00000074181 chr19:15170377-15170377;G/A missense_variant False NOTCH3@p.E309K 1 0.347826087 ENSG00000074181 chr19:15191535-15191535;C/T missense_variant False NOVA2@p.Q481H 1 0.257142857 ENSG00000104967 chr19:45939899-45939899;C/G missense_variant False NOTCH3@p.E1585K 1 0.1 ENSG00000074181 chr19:15170809-15170809;C/T missense_variant False NOTCH3@p.E1161K 1 0.194444444 ENSG00000074181 chr19:15179262-15179262;C/T missense_variant False NOTCH3@p.D1587N 1 0.476190476 ENSG00000074181 chr19:15170803-15170803;C/T missense_variant False NOTCH3@p.A1796S 1 0.363636364 ENSG00000074181 chr19:15166068-15166068;C/A missense_variant False NOTCH2@p.Y790C 1 0.310810811 ENSG00000134250 chr1:119950834-119950834;T/C missense_variant True NOTCH2@p.Q1080H 1 0.057553957 ENSG00000134250 chr1:119937954-119937954;C/G missense_variant True NOTCH3@p.S1688C 1 0.206896552 ENSG00000074181 chr19:15170382-15170382;G/C missense_variant False NOTCH3@p.S834N 1 0.15625 ENSG00000074181 chr19:15184360-15184360;C/T missense_variant False NOTCH4@p.E1292K 1 0.102564103 ENSG00000204301 chr6:32201382-32201382;C/T missense_variant False NOTCH4@p.E1977K 1 0.230769231 ENSG00000204301 chr6:32195520-32195520;C/T missense_variant False NOTCH4@p.E687K 1 0.144508671 ENSG00000204301 chr6:32214218-32214218;C/T missense_variant False NOTCH4@p.E687Q 1 0.322981366 ENSG00000204301 chr6:32214218-32214218;C/G missense_variant False NOTCH4@p.G1099E 1 0.34375 ENSG00000204301 chr6:32202535-32202535;C/T missense_variant False NOTCH4@p.G1544D 1 0.264705882 ENSG00000204301 chr6:32198546-32198546;C/T missense_variant False NOTCH4@p.G988A 1 0.111111111 ENSG00000204301 chr6:32204292-32204292;C/G missense_variant False NOTCH4@p.P1208Q 1 0.381165919 ENSG00000204301 chr6:32202208-32202208;G/T missense_variant False NOTCH4@p.P1397L 1 0.148648649 ENSG00000204301 chr6:32200956-32200956;G/A missense_variant False NOTCH4@p.P1950L 1 0.098484848 ENSG00000204301 chr6:32195600-32195600;G/A missense_variant False NOTUM@p.C279Y 1 0.260869565 ENSG00000185269 chr17:81956934-81956934;C/T missense_variant False NOTUM@p.H444R 1 0.517241379 ENSG00000185269 chr17:81953121-81953121;T/C missense_variant False NOVA1@p.G48S 1 0.142857143 ENSG00000139910 chr14:26595548-26595548;C/T missense_variant False NOVA1@p.R231P 1 0.181818182 ENSG00000139910 chr14:26448791-26448791;C/G missense_variant False NOVA2@p.G392R 1 0.409090909 ENSG00000104967 chr19:45940168-45940168;C/T missense_variant False NOP56@p.K481N 1 0.223880597 ENSG00000101361 chr20:2657952-2657952;G/C missense_variant False NOP56@p.G495A 1 0.182539683 ENSG00000101361 chr20:2657993-2657993;G/C missense_variant False NOA1@p.E293K 1 0.388888889 ENSG00000084092 chr4:56976709-56976709;C/T missense_variant False NODAL@p.A314V 1 0.393939394 ENSG00000156574 chr10:70433039-70433039;G/A missense_variant False NOL10@p.L236F 1 0.25 ENSG00000115761 chr2:10659220-10659220;C/G missense_variant False NOL10@p.E666Q 1 0.393518519 ENSG00000115761 chr2:10572142-10572142;C/G missense_variant False NOG@p.S180G 1 0.25 ENSG00000183691 chr17:56594761-56594761;A/G missense_variant False NODAL@p.P315R 1 0.073684211 ENSG00000156574 chr10:70433036-70433036;G/C missense_variant False NODAL@p.P100A 1 0.28 ENSG00000156574 chr10:70435879-70435879;G/C missense_variant False NODAL@p.E122Q 1 0.213114754 ENSG00000156574 chr10:70435813-70435813;C/G missense_variant False NOD2@p.S448P 1 0.152542373 ENSG00000167207 chr16:50711253-50711253;T/C missense_variant False NOD1@p.E490D 1 0.283018868 ENSG00000106100 chr7:30451947-30451947;C/G missense_variant False NOD2@p.R760H 1 0.418918919 ENSG00000167207 chr16:50712190-50712190;G/A missense_variant False NOD2@p.E692K 1 0.327272727 ENSG00000167207 chr16:50711985-50711985;G/A missense_variant False NOD1@p.S815F 1 0.397260274 ENSG00000106100 chr7:30446150-30446150;G/A missense_variant False NOD1@p.R615K 1 0.448275862 ENSG00000106100 chr7:30451573-30451573;C/T missense_variant False NOD1@p.I659M 1 0.297297297 ENSG00000106100 chr7:30451440-30451440;G/C missense_variant False NOD1@p.I653M 1 0.090909091 ENSG00000106100 chr7:30451458-30451458;G/C missense_variant False NOL10@p.R349W 1 0.392857143 ENSG00000115761 chr2:10607293-10607293;G/A missense_variant False NOL10@p.R621C 1 0.421052632 ENSG00000115761 chr2:10577722-10577722;G/A missense_variant False NOL11@p.E475K 1 0.104477612 ENSG00000130935 chr17:67737866-67737866;G/A missense_variant False NOL11@p.E574K 1 0.127659574 ENSG00000130935 chr17:67738312-67738312;G/A missense_variant False NOL11@p.G439V 1 0.325 ENSG00000130935 chr17:67737605-67737605;G/T missense_variant False NOL11@p.I433T 1 0.289772727 ENSG00000130935 chr17:67737587-67737587;T/C missense_variant False NOL12@p.S162C 1 0.318584071 ENSG00000273899 chr22:37691179-37691179;C/G missense_variant False NOL3@p.E46K 1 0.333333333 ENSG00000140939 chr16:67174305-67174305;G/A missense_variant False NOL3@p.S27L 1 0.44 ENSG00000140939 chr16:67174249-67174249;C/T missense_variant False NOL4@p.D94H 1 0.246753247 ENSG00000101746 chr18:34130005-34130005;C/G missense_variant False NOL4@p.E500K 1 0.366666667 ENSG00000101746 chr18:33943109-33943109;C/T missense_variant False NOL4@p.E605K 1 0.119047619 ENSG00000101746 chr18:33852946-33852946;C/T missense_variant False NOL4@p.E618Q 1 0.807017544 ENSG00000101746 chr18:33852907-33852907;C/G missense_variant False NOL4@p.T29I 1 0.337209302 ENSG00000101746 chr18:34223168-34223168;G/A missense_variant False NOL4L@p.K121R 1 0.391304348 ENSG00000197183 chr20:32456143-32456143;T/C missense_variant False NOL6@p.C171R 1 0.443181818 ENSG00000165271 chr9:33470059-33470059;A/G missense_variant False NOL6@p.E874K 1 0.333333333 ENSG00000165271 chr9:33465268-33465268;C/T missense_variant False NOD1@p.E816Q 1 0.066666667 ENSG00000106100 chr7:30446148-30446148;C/G missense_variant False NOCT@p.D354H 1 0.231884058 ENSG00000151014 chr4:139045238-139045238;G/C missense_variant False NOL6@p.M461I 1 0.12745098 ENSG00000165271 chr9:33468071-33468071;C/T missense_variant False NOA1@p.S411P 1 0.071428571 ENSG00000084092 chr4:56973936-56973936;A/G missense_variant False NOBOX@p.E77K 1 0.186046512 ENSG00000106410 chr7:144401932-144401932;C/T missense_variant False NOB1@p.V226L 1 0.2 ENSG00000141101 chr16:69748968-69748968;C/G missense_variant False NOB1@p.R345C 1 0.481012658 ENSG00000141101 chr16:69742538-69742538;G/A missense_variant False NOB1@p.R178T 1 0.3 ENSG00000141101 chr16:69749111-69749111;C/G missense_variant False NOB1@p.H102Y 1 0.475 ENSG00000141101 chr16:69752264-69752264;G/A missense_variant False NOA1@p.Y337_G345del 1 0.165289256 ENSG00000084092 chr4:56976551-56976577;GCCCACTAAGTAGACGTCCCCACGGTA/- inframe_deletion False NOA1@p.S206Gfs*33 1 0.138888889 ENSG00000084092 chr4:56976955-56976970;GCCGCAACGCGGCGCT/- frameshift_variant False NOCT@p.A299_Q300del 1 0.279069767 ENSG00000151014 chr4:139045072-139045077;AGCTCA/- inframe_deletion False NOA1@p.R640K 1 0.081967213 ENSG00000084092 chr4:56963628-56963628;C/T missense_variant False NOA1@p.R50H 1 0.321428571 ENSG00000084092 chr4:56977437-56977437;C/T missense_variant False NOA1@p.R406T 1 0.296296296 ENSG00000084092 chr4:56973950-56973950;C/G missense_variant False NOA1@p.Q425E 1 0.187165775 ENSG00000084092 chr4:56973894-56973894;G/C missense_variant False NOA1@p.K691N 1 0.184615385 ENSG00000084092 chr4:56963474-56963474;C/A missense_variant False NOA1@p.K672N 1 0.358851675 ENSG00000084092 chr4:56963531-56963531;C/G missense_variant False NOBOX@p.R360Q 1 0.347826087 ENSG00000106410 chr7:144399832-144399832;C/T missense_variant False NOBOX@p.S51F 1 0.212765957 ENSG00000106410 chr7:144404614-144404614;G/A missense_variant False NOC2L@p.D676N 1 0.293333333 ENSG00000188976 chr1:945545-945545;C/T missense_variant False NOC2L@p.D699N 1 0.416666667 ENSG00000188976 chr1:945105-945105;C/T missense_variant False NOC2L@p.E45Q 1 0.326530612 ENSG00000188976 chr1:958975-958975;C/G missense_variant False NOC2L@p.K144N 1 0.363636364 ENSG00000188976 chr1:956948-956948;C/G missense_variant False NOC2L@p.R588H 1 0.164383562 ENSG00000188976 chr1:946442-946442;C/T missense_variant False NOC2L@p.R623G 1 0.230769231 ENSG00000188976 chr1:946223-946223;G/C missense_variant False NOC3L@p.D172G 1 0.483606557 ENSG00000173145 chr10:94356585-94356585;T/C missense_variant False NOC3L@p.E128K 1 0.270833333 ENSG00000173145 chr10:94357300-94357300;C/T missense_variant False NOC3L@p.H636Y 1 1.0 ENSG00000173145 chr10:94339795-94339795;G/A missense_variant False NOC3L@p.I155M 1 0.565217391 ENSG00000173145 chr10:94357217-94357217;G/C missense_variant False NOC3L@p.L662M 1 0.328767123 ENSG00000173145 chr10:94338715-94338715;G/T missense_variant False NOC3L@p.N6T 1 0.5 ENSG00000173145 chr10:94361865-94361865;T/G missense_variant False NOC3L@p.Q668H 1 0.261904762 ENSG00000173145 chr10:94338695-94338695;C/G missense_variant False NOC3L@p.S115F 1 0.41221374 ENSG00000173145 chr10:94358089-94358089;G/A missense_variant False NOC3L@p.S456C 1 0.28358209 ENSG00000173145 chr10:94346447-94346447;G/C missense_variant False NOL6@p.H527Y 1 0.206896552 ENSG00000165271 chr9:33467714-33467714;G/A missense_variant False NOL6@p.R1023H 1 0.159090909 ENSG00000165271 chr9:33463368-33463368;C/T missense_variant False NOP56@p.E549K 1 0.425 ENSG00000101361 chr20:2658154-2658154;G/A missense_variant False NOP10@p.M56I 1 0.409090909 ENSG00000182117 chr15:34341995-34341995;C/T missense_variant False NOP14@p.E611Q 1 0.196721311 ENSG00000087269 chr4:2944133-2944133;C/G missense_variant False NOP14@p.E527D 1 0.507042254 ENSG00000087269 chr4:2946466-2946466;C/G missense_variant False NOP14@p.E446Q 1 0.102803738 ENSG00000087269 chr4:2948355-2948355;C/G missense_variant False NOP14@p.E290Gfs*3 1 0.198113208 ENSG00000087269 chr4:2952278-2952279;-/A frameshift_variant False NOP14@p.E277Q 1 0.30952381 ENSG00000087269 chr4:2952316-2952316;C/G missense_variant False NOP10@p.T27S 1 0.129032258 ENSG00000182117 chr15:34342083-34342083;G/C missense_variant False NONO@p.R140L 1 0.26984127 ENSG00000147140 chrX:71294297-71294297;G/T missense_variant False NOMO1@p.R474T 1 0.253289474 ENSG00000103512 chr16:14864610-14864610;G/C missense_variant False NONO@p.E10Q 1 0.803571429 ENSG00000147140 chrX:71290665-71290665;G/C missense_variant False NOMO3@p.S286N 1 0.481012658 ENSG00000103226 chr16:16252084-16252084;G/A missense_variant False NOMO2@p.Q436E 1 0.262068966 ENSG00000185164 chr16:18533094-18533094;G/C missense_variant False NOMO2@p.E720D 1 0.112903226 ENSG00000185164 chr16:18520878-18520878;C/G missense_variant False NOMO1@p.S968C 1 0.108280255 ENSG00000103512 chr16:14881561-14881561;C/G missense_variant False NOMO1@p.S280C 1 0.191570881 ENSG00000103512 chr16:14853570-14853570;C/G missense_variant False NOP14@p.K809N 1 0.121387283 ENSG00000087269 chr4:2939235-2939235;C/G missense_variant False NOP14@p.L666V 1 0.413043478 ENSG00000087269 chr4:2942247-2942247;G/C missense_variant False NOP14@p.Q210E 1 0.364640884 ENSG00000087269 chr4:2953630-2953630;G/C missense_variant False NOP16@p.E98K 1 0.338235294 ENSG00000048162 chr5:176385322-176385322;C/T missense_variant False NOP16@p.Q142E 1 0.107142857 ENSG00000048162 chr5:176384344-176384344;G/C missense_variant False NOP16@p.R135C 1 0.285714286 ENSG00000048162 chr5:176384365-176384365;G/A missense_variant False NOP16@p.R89W 1 0.277777778 ENSG00000048162 chr5:176386861-176386861;G/A missense_variant False NOP2@p.A718T 1 0.293333333 ENSG00000111641 chr12:6557280-6557280;C/T missense_variant False NOP2@p.E191Q 1 0.161290323 ENSG00000111641 chr12:6563731-6563731;C/G missense_variant False NOP2@p.G370A 1 0.375 ENSG00000111641 chr12:6561762-6561762;C/G missense_variant False NOP2@p.G370E 1 0.5 ENSG00000111641 chr12:6561762-6561762;C/T missense_variant False NOP2@p.K63E 1 0.4375 ENSG00000111641 chr12:6566580-6566580;T/C missense_variant False NOP2@p.R16Q 1 0.490909091 ENSG00000111641 chr12:6567872-6567872;C/T missense_variant False NOP53@p.D17N 1 0.196078431 ENSG00000105373 chr19:47745608-47745608;G/A missense_variant False NOP53@p.E455K 1 0.378378378 ENSG00000105373 chr19:47756594-47756594;G/A missense_variant False NOP53@p.R39Q 1 0.204545455 ENSG00000105373 chr19:47745675-47745675;G/A missense_variant False NOP56@p.D165H 1 0.518248175 ENSG00000101361 chr20:2654871-2654871;G/C missense_variant False NOMO1@p.R593T 1 0.103896104 ENSG00000103512 chr16:14866663-14866663;G/C missense_variant False NOMO1@p.Q380H 1 0.434782609 ENSG00000103512 chr16:14857575-14857575;G/C missense_variant False NOL6@p.R203H 1 0.074626866 ENSG00000165271 chr9:33469618-33469618;C/T missense_variant False NOL8@p.I56T 1 0.275862069 ENSG00000198000 chr9:92323476-92323476;A/G missense_variant False NOL9@p.R465K 1 0.233944954 ENSG00000162408 chr1:6532604-6532604;C/T missense_variant False NOL9@p.L261F 1 0.168674699 ENSG00000162408 chr1:6545142-6545142;C/G missense_variant False NOL9@p.E185Q 1 0.058441558 ENSG00000162408 chr1:6550459-6550459;C/G missense_variant False NOL9@p.A642P 1 0.164948454 ENSG00000162408 chr1:6526731-6526731;C/G missense_variant False NOL8@p.S664Y 1 0.189189189 ENSG00000198000 chr9:92314634-92314634;G/T missense_variant False NOL8@p.R240K 1 0.32 ENSG00000198000 chr9:92315906-92315906;C/T missense_variant False NOL8@p.E958K 1 0.487179487 ENSG00000198000 chr9:92305784-92305784;C/T missense_variant False NOMO1@p.K1215N 1 0.138674884 ENSG00000103512 chr16:14895621-14895621;G/C missense_variant False NOL8@p.E806K 1 0.37037037 ENSG00000198000 chr9:92311202-92311202;C/T missense_variant False NOL8@p.E330K 1 0.476190476 ENSG00000198000 chr9:92315637-92315637;C/T missense_variant False NOL8@p.E134K 1 0.265306122 ENSG00000198000 chr9:92319238-92319238;C/T missense_variant False NOL8@p.D1081N 1 0.176029963 ENSG00000198000 chr9:92299951-92299951;C/T missense_variant False NOL7@p.L214F 1 0.24 ENSG00000225921 chr6:13620425-13620425;C/T missense_variant False NOL6@p.S320L 1 0.327868852 ENSG00000165271 chr9:33469025-33469025;G/A missense_variant False NOL9@p.R681T 1 0.232954545 ENSG00000162408 chr1:6525921-6525921;C/G missense_variant False NOL9@p.S562C 1 0.116666667 ENSG00000162408 chr1:6529134-6529134;G/C missense_variant False NOL9@p.T231A 1 0.142857143 ENSG00000162408 chr1:6549624-6549624;T/C missense_variant False NOLC1@p.E481Q 1 0.247706422 ENSG00000166197 chr10:102160793-102160793;G/C missense_variant False NOLC1@p.T610I 1 0.423076923 ENSG00000166197 chr10:102161643-102161643;C/T missense_variant False NOM1@p.D559N 1 0.451923077 ENSG00000146909 chr7:156962193-156962193;G/A missense_variant False NOM1@p.D671N 1 0.054054054 ENSG00000146909 chr7:156964004-156964004;G/A missense_variant False NOM1@p.E386K 1 0.125 ENSG00000146909 chr7:156954146-156954146;G/A missense_variant False NOM1@p.E688D 1 0.331578947 ENSG00000146909 chr7:156966300-156966300;A/C missense_variant False NOM1@p.E718Q 1 0.147651007 ENSG00000146909 chr7:156966388-156966388;G/C missense_variant False NOM1@p.K227E 1 0.137254902 ENSG00000146909 chr7:156950416-156950416;A/G missense_variant False NOM1@p.K641N 1 0.416666667 ENSG00000146909 chr7:156963916-156963916;G/C missense_variant False NOM1@p.N370S 1 0.255319149 ENSG00000146909 chr7:156952595-156952595;A/G missense_variant False NOM1@p.N624D 1 0.2 ENSG00000146909 chr7:156963134-156963134;A/G missense_variant False NOMO1@p.D1044N 1 0.596638655 ENSG00000103512 chr16:14884390-14884390;G/A missense_variant False NOMO1@p.E368Q 1 0.234899329 ENSG00000103512 chr16:14857537-14857537;G/C missense_variant False NOMO1@p.E727K 1 0.319444444 ENSG00000103512 chr16:14875160-14875160;G/A missense_variant False NKPD1@p.F276L 1 0.363636364 ENSG00000179846 chr19:45153609-45153609;G/T missense_variant False NKIRAS2@p.G119S 1 0.211009174 ENSG00000168256 chr17:42023672-42023672;G/A missense_variant False NEK11@p.D431V 1 0.171428571 ENSG00000114670 chr3:131170780-131170780;A/T missense_variant False NF1@p.F741L 1 0.318584071 ENSG00000196712 chr17:31226654-31226654;T/C missense_variant True NF1@p.P2189R 1 0.072289157 ENSG00000196712 chr17:31337506-31337506;C/G missense_variant True NF1@p.L952Yfs*19 1 0.382352941 ENSG00000196712 chr17:31229838-31229848;TTATTGACTGA/- frameshift_variant True NF1@p.L447F 1 0.310810811 ENSG00000196712 chr17:31206318-31206318;C/T missense_variant True NF1@p.L2103F 1 0.425 ENSG00000196712 chr17:31336794-31336794;C/T missense_variant True NF1@p.I1351M 1 0.081761006 ENSG00000196712 chr17:31249062-31249062;C/G missense_variant True NF1@p.G455E 1 0.238461538 ENSG00000196712 chr17:31206343-31206343;G/A missense_variant True NF1@p.E2430Q 1 0.086956522 ENSG00000196712 chr17:31349218-31349218;G/C missense_variant True NF1@p.R2119T 1 0.547169811 ENSG00000196712 chr17:31336843-31336843;G/C missense_variant True NF1@p.E2193K 1 0.5625 ENSG00000196712 chr17:31337517-31337517;G/A missense_variant True NF1@p.E1889K 1 0.341463415 ENSG00000196712 chr17:31330351-31330351;G/A missense_variant True NF1@p.E1020K 1 0.455696203 ENSG00000196712 chr17:31230327-31230327;G/A missense_variant True NF1@p.D1490Y 1 0.201492537 ENSG00000196712 chr17:31260406-31260406;G/T missense_variant True NEXN@p.Y22C 1 0.155844156 ENSG00000162614 chr1:77917603-77917603;A/G missense_variant False NEXN@p.F645S 1 0.120689655 ENSG00000162614 chr1:77942735-77942735;T/C missense_variant False NF1@p.R135L 1 0.585714286 ENSG00000196712 chr17:31163301-31163301;G/T missense_variant True NF1@p.R2450Q 1 0.156626506 ENSG00000196712 chr17:31350210-31350210;G/A missense_variant True NKIRAS2@p.F94Y 1 0.304347826 ENSG00000168256 chr17:42022585-42022585;T/A missense_variant False NF2@p.D559Y 1 0.188034188 ENSG00000186575 chr22:29681539-29681539;G/T missense_variant True NFASC@p.E413K 1 0.272727273 ENSG00000163531 chr1:204973377-204973377;G/A missense_variant False NFASC@p.D310H 1 0.35 ENSG00000163531 chr1:204968907-204968907;G/C missense_variant False NF2@p.P246L 1 0.092307692 ENSG00000186575 chr22:29661266-29661266;C/T missense_variant True NF2@p.F591L 1 0.434782609 ENSG00000186575 chr22:29694787-29694787;C/A missense_variant True NF2@p.E166Q 1 0.062937063 ENSG00000186575 chr22:29654705-29654705;G/C missense_variant True NF2@p.E103K 1 0.146666667 ENSG00000186575 chr22:29639156-29639156;G/A missense_variant True NF2@p.D152* 1 0.416 ENSG00000186575 chr22:29654661-29654662;-/T frameshift_variant True NF1@p.R2571T 1 0.078125 ENSG00000196712 chr17:31356556-31356556;G/C missense_variant True NF1@p.T1730Pfs*4 1 0.295454545 ENSG00000196712 chr17:31326170-31326170;C/- frameshift_variant True NF1@p.T1589Rfs*2 1 0.136752137 ENSG00000196712 chr17:31265265-31265265;G/- frameshift_variant True NF1@p.S666C 1 0.142857143 ENSG00000196712 chr17:31225246-31225246;C/G missense_variant True NF1@p.S382P 1 0.415384615 ENSG00000196712 chr17:31201118-31201118;T/C missense_variant True NF1@p.R304Q 1 0.444444444 ENSG00000196712 chr17:31200444-31200444;G/A missense_variant True NF1@p.R2825T 1 0.15942029 ENSG00000196712 chr17:31374109-31374109;G/C missense_variant True NEXN@p.E148K 1 0.376811594 ENSG00000162614 chr1:77918268-77918268;G/A missense_variant False NEXMIF@p.S883N 1 0.454545455 ENSG00000050030 chrX:74741909-74741909;C/T missense_variant False NEXMIF@p.P1045R 1 0.62295082 ENSG00000050030 chrX:74741423-74741423;G/C missense_variant False NEUROD1@p.T209M 1 0.266666667 ENSG00000162992 chr2:181678235-181678235;G/A missense_variant False NEUROD4@p.K125N 1 0.161290323 ENSG00000123307 chr12:55026814-55026814;G/C missense_variant False NEUROD4@p.E55K 1 0.185185185 ENSG00000123307 chr12:55026602-55026602;G/A missense_variant False NEUROD4@p.E33D 1 0.755555556 ENSG00000123307 chr12:55026538-55026538;G/C missense_variant False NEUROD2@p.M363Tfs*181 1 0.285714286 ENSG00000171532 chr17:39605509-39605512;TGCA/- frameshift_variant False NEUROD2@p.L203V 1 0.210526316 ENSG00000171532 chr17:39605993-39605993;G/C missense_variant False NEUROD2@p.H381Sfs*2 1 0.466666667 ENSG00000171532 chr17:39605459-39605460;-/A frameshift_variant False NEUROD1@p.S340Hfs*7 1 0.442477876 ENSG00000162992 chr2:181677843-181677843;A/- frameshift_variant False NEXMIF@p.L570F 1 0.403846154 ENSG00000050030 chrX:74742847-74742847;C/G missense_variant False NEUROD1@p.R193W 1 0.1 ENSG00000162992 chr2:181678284-181678284;G/A missense_variant False NEUROD1@p.E25Q 1 0.265957447 ENSG00000162992 chr2:181678788-181678788;C/G missense_variant False NEUROD1@p.A185V 1 0.075 ENSG00000162992 chr2:181678307-181678307;G/A missense_variant False NEURL4@p.V351A 1 0.148148148 ENSG00000215041 chr17:7326751-7326751;A/G missense_variant False NEURL4@p.S704F 1 0.098901099 ENSG00000215041 chr17:7323964-7323964;G/A missense_variant False NEURL4@p.R78Q 1 0.259259259 ENSG00000215041 chr17:7329080-7329080;C/T missense_variant False NEUROD4@p.L221V 1 0.252747253 ENSG00000123307 chr12:55027100-55027100;C/G missense_variant False NEUROD4@p.R130T 1 0.197674419 ENSG00000123307 chr12:55026828-55026828;G/C missense_variant False NEUROD6@p.D226H 1 0.172932331 ENSG00000164600 chr7:31338593-31338593;C/G missense_variant False NEUROD6@p.E62K 1 0.381294964 ENSG00000164600 chr7:31339085-31339085;C/T missense_variant False NEUROD6@p.G288D 1 0.315789474 ENSG00000164600 chr7:31338406-31338406;C/T missense_variant False NEUROD6@p.K33N 1 0.284810127 ENSG00000164600 chr7:31339170-31339170;C/A missense_variant False NEUROD6@p.R50W 1 0.453125 ENSG00000164600 chr7:31339121-31339121;T/A missense_variant False NEUROG2@p.A93V 1 0.666666667 ENSG00000178403 chr4:112515198-112515198;G/A missense_variant False NEUROG3@p.D116N 1 0.212121212 ENSG00000122859 chr10:69572698-69572698;C/T missense_variant False NEXMIF@p.C413F 1 0.909090909 ENSG00000050030 chrX:74743319-74743319;C/A missense_variant False NEXMIF@p.D1282H 1 0.451612903 ENSG00000050030 chrX:74740713-74740713;C/G missense_variant False NEXMIF@p.D698N 1 0.212121212 ENSG00000050030 chrX:74742465-74742465;C/T missense_variant False NEXMIF@p.E25Q 1 0.8 ENSG00000050030 chrX:74745578-74745578;C/G missense_variant False NEXMIF@p.E419Q 1 0.105 ENSG00000050030 chrX:74743302-74743302;C/G missense_variant False NEXMIF@p.K1484N 1 0.347826087 ENSG00000050030 chrX:74740105-74740105;T/G missense_variant False NEXMIF@p.K211E 1 0.244897959 ENSG00000050030 chrX:74743926-74743926;T/C missense_variant False NEXMIF@p.L41V 1 0.541666667 ENSG00000050030 chrX:74744436-74744436;G/C missense_variant False NFASC@p.E798Q 1 0.522727273 ENSG00000163531 chr1:204981942-204981942;G/C missense_variant False NFASC@p.H193R 1 0.522222222 ENSG00000163531 chr1:204957698-204957698;A/G missense_variant False NFASC@p.R492C 1 0.060747664 ENSG00000163531 chr1:204974739-204974739;C/T missense_variant False NFATC3@p.L196M 1 0.229166667 ENSG00000072736 chr16:68122469-68122469;T/A missense_variant False NFATC4@p.R241L 1 0.28 ENSG00000100968 chr14:24370120-24370120;G/T missense_variant False NFATC4@p.E540K 1 0.100358423 ENSG00000100968 chr14:24373753-24373753;G/A missense_variant False NFATC3@p.S823P 1 0.295774648 ENSG00000072736 chr16:68191136-68191136;T/C missense_variant False NFATC3@p.R444Q 1 0.066666667 ENSG00000072736 chr16:68126540-68126540;G/A missense_variant False NFATC3@p.P951S 1 0.266666667 ENSG00000072736 chr16:68191520-68191520;C/T missense_variant False NFATC3@p.M531I 1 0.086956522 ENSG00000072736 chr16:68158060-68158060;G/A missense_variant False NFATC3@p.F176L 1 0.108695652 ENSG00000072736 chr16:68122411-68122411;C/G missense_variant False NFATC2@p.Q793H 1 0.311827957 ENSG00000101096 chr20:51432410-51432410;C/G missense_variant False NFATC3@p.E598Q 1 0.166666667 ENSG00000072736 chr16:68174391-68174391;G/C missense_variant False NFATC3@p.D191N 1 0.5 ENSG00000072736 chr16:68122454-68122454;G/A missense_variant False NFATC2IP@p.L141V 1 0.306818182 ENSG00000176953 chr16:28952165-28952165;C/G missense_variant False NFATC2IP@p.E310Q 1 0.185714286 ENSG00000176953 chr16:28958798-28958798;G/C missense_variant False NFATC2IP@p.D159V 1 0.359073359 ENSG00000176953 chr16:28954580-28954580;A/T missense_variant False NFATC2@p.T925M 1 0.35 ENSG00000101096 chr20:51391400-51391400;G/A missense_variant False NFATC4@p.R241Q 1 0.333333333 ENSG00000100968 chr14:24370120-24370120;G/A missense_variant False NFATC4@p.R759S 1 0.1875 ENSG00000100968 chr14:24376514-24376514;A/T missense_variant False NFATC4@p.S581L 1 0.35 ENSG00000100968 chr14:24374335-24374335;C/T missense_variant False NFATC4@p.V500I 1 0.15 ENSG00000100968 chr14:24373309-24373309;G/A missense_variant False NFE2@p.L158F 1 0.248704663 ENSG00000123405 chr12:54293024-54293024;G/A missense_variant False NFE2@p.S157F 1 0.255102041 ENSG00000123405 chr12:54293026-54293026;G/A missense_variant False NFE2L1@p.D193Tfs*37 1 0.165730337 ENSG00000082641 chr17:48056452-48056452;G/- frameshift_variant False NFE2L1@p.D75N 1 0.5 ENSG00000082641 chr17:48051341-48051341;G/A missense_variant False NFE2L1@p.I72V 1 0.239263804 ENSG00000082641 chr17:48051332-48051332;A/G missense_variant False NFE2L1@p.S493F 1 0.058823529 ENSG00000082641 chr17:48058800-48058800;C/T missense_variant False NFE2L1@p.S586L 1 0.414141414 ENSG00000082641 chr17:48059079-48059079;C/T missense_variant False NFE2L2@p.D29Y 1 0.371428571 ENSG00000116044 chr2:177234232-177234232;C/A missense_variant True NFE2L2@p.E35D 1 0.363636364 ENSG00000116044 chr2:177234212-177234212;T/G missense_variant True NFE2L2@p.E524Q 1 0.084337349 ENSG00000116044 chr2:177231033-177231033;C/G missense_variant True NFE2L2@p.E82V 1 0.21875 ENSG00000116044 chr2:177234072-177234072;T/A missense_variant True NFE2L2@p.G31A 1 0.366666667 ENSG00000116044 chr2:177234225-177234225;C/G missense_variant True NFE2L2@p.G31R 1 0.244897959 ENSG00000116044 chr2:177234226-177234226;C/T missense_variant True NFATC2@p.S280L 1 0.317073171 ENSG00000101096 chr20:51523402-51523402;G/A missense_variant False NFATC2@p.M637V 1 0.329341317 ENSG00000101096 chr20:51435311-51435311;T/C missense_variant False NFASC@p.R526W 1 0.377777778 ENSG00000163531 chr1:204975288-204975288;C/T missense_variant False NFAT5@p.L705_T709del 1 0.22972973 ENSG00000102908 chr16:69691991-69692005;ATTGCAGCAGGCTAC/- inframe_deletion False NFAT5@p.S967F 1 0.2375 ENSG00000102908 chr16:69692779-69692779;C/T missense_variant False NFAT5@p.Q239E 1 0.101265823 ENSG00000102908 chr16:69647543-69647543;C/G missense_variant False NFAT5@p.Q1509K 1 1.0 ENSG00000102908 chr16:69695300-69695300;C/A missense_variant False NFAT5@p.Q1357E 1 0.184782609 ENSG00000102908 chr16:69693948-69693948;C/G missense_variant False NFAT5@p.N154Ifs*33 1 0.121428571 ENSG00000102908 chr16:69647289-69647290;AC/T frameshift_variant False NFAT5@p.L802F 1 0.2 ENSG00000102908 chr16:69692285-69692285;A/C missense_variant False NFAT5@p.L471V 1 0.407407407 ENSG00000102908 chr16:69670072-69670072;C/G missense_variant False NFATC2@p.G840S 1 0.1328125 ENSG00000101096 chr20:51432271-51432271;C/T missense_variant False NFAT5@p.I447M 1 0.185185185 ENSG00000102908 chr16:69670002-69670002;C/G missense_variant False NFAT5@p.I419M 1 0.427272727 ENSG00000102908 chr16:69659841-69659841;C/G missense_variant False NFAT5@p.F1182L 1 0.279411765 ENSG00000102908 chr16:69693425-69693425;C/G missense_variant False NFAT5@p.E748K 1 0.18556701 ENSG00000102908 chr16:69692121-69692121;G/A missense_variant False NFASC@p.S755W 1 0.303030303 ENSG00000163531 chr1:204981814-204981814;C/G missense_variant False NFASC@p.R89W 1 0.268292683 ENSG00000163531 chr1:204954237-204954237;C/T missense_variant False NFATC1@p.E641K 1 0.102040816 ENSG00000131196 chr18:79461328-79461328;G/A missense_variant False NFATC1@p.G224V 1 0.272727273 ENSG00000131196 chr18:79410946-79410946;G/T missense_variant False NFATC1@p.G449E 1 0.253968254 ENSG00000131196 chr18:79433698-79433698;G/A missense_variant False NFATC1@p.G535A 1 0.350364964 ENSG00000131196 chr18:79450968-79450968;G/C missense_variant False NFATC1@p.G795E 1 0.428571429 ENSG00000131196 chr18:79486539-79486539;G/A missense_variant False NFATC1@p.P362L 1 0.315789474 ENSG00000131196 chr18:79411360-79411360;C/T missense_variant False NFATC1@p.R273L 1 0.245614035 ENSG00000131196 chr18:79411093-79411093;G/T missense_variant False NFATC1@p.R874L 1 0.347826087 ENSG00000131196 chr18:79486776-79486776;G/T missense_variant False NFATC1@p.S124L 1 0.147540984 ENSG00000131196 chr18:79410646-79410646;C/T missense_variant False NFATC1@p.S345L 1 0.13559322 ENSG00000131196 chr18:79411309-79411309;C/T missense_variant False NFATC1@p.S655Y 1 0.333333333 ENSG00000131196 chr18:79467454-79467454;C/A missense_variant False NFATC1@p.S742C 1 0.308695652 ENSG00000131196 chr18:79486380-79486380;C/G missense_variant False NFATC1@p.V745L 1 0.090566038 ENSG00000131196 chr18:79486388-79486388;G/C missense_variant False NFATC2@p.A100T 1 0.2 ENSG00000101096 chr20:51523943-51523943;C/T missense_variant False NFATC2@p.A298G 1 0.388888889 ENSG00000101096 chr20:51523348-51523348;G/C missense_variant False NFATC2@p.F178L 1 0.24 ENSG00000101096 chr20:51523707-51523707;G/T missense_variant False NFATC2@p.G289S 1 0.25 ENSG00000101096 chr20:51523376-51523376;C/T missense_variant False NEURL4@p.L905V 1 0.133333333 ENSG00000215041 chr17:7322747-7322747;G/C missense_variant False NEURL4@p.K1414N 1 0.518518519 ENSG00000215041 chr17:7317537-7317537;C/A missense_variant False NEURL4@p.H1259N 1 0.157894737 ENSG00000215041 chr17:7318584-7318584;G/T missense_variant False NEK9@p.D712N 1 0.2 ENSG00000119638 chr14:75097139-75097139;C/T missense_variant False NELFA@p.Q191H 1 0.051150895 ENSG00000185049 chr4:1989712-1989712;C/G missense_variant False NELFA@p.L132F 1 0.162162162 ENSG00000185049 chr4:1991563-1991563;C/G missense_variant False NELFA@p.G115R 1 0.194444444 ENSG00000185049 chr4:1991616-1991616;C/G missense_variant False NEK9@p.S413C 1 0.265306122 ENSG00000119638 chr14:75107432-75107432;G/C missense_variant False NEK9@p.I721Lfs*5 1 0.180555556 ENSG00000119638 chr14:75097104-75097113;GATGAGAATG/- frameshift_variant False NEK9@p.E82K 1 0.066666667 ENSG00000119638 chr14:75124199-75124199;C/T missense_variant False NEK8@p.E650K 1 0.315789474 ENSG00000160602 chr17:28741469-28741469;G/A missense_variant False NEK6@p.G249V 1 0.668831169 ENSG00000119408 chr9:124347737-124347737;G/T missense_variant False NEK8@p.E204K 1 0.333333333 ENSG00000160602 chr17:28735363-28735363;G/A missense_variant False NEK8@p.D661N 1 0.182795699 ENSG00000160602 chr17:28741502-28741502;G/A missense_variant False NEK7@p.V174A 1 0.358974359 ENSG00000151414 chr1:198278993-198278993;T/C missense_variant False NEK7@p.S217F 1 0.441176471 ENSG00000151414 chr1:198293005-198293005;C/T missense_variant False NEK7@p.I80M 1 0.246305419 ENSG00000151414 chr1:198262616-198262616;C/G missense_variant False NEK7@p.G223S 1 0.193069307 ENSG00000151414 chr1:198293022-198293022;G/A missense_variant False NELFB@p.D200H 1 0.103896104 ENSG00000188986 chr9:137256911-137256911;G/C missense_variant False NELFB@p.I301M 1 0.132743363 ENSG00000188986 chr9:137263198-137263198;C/G missense_variant False NELFB@p.V298M 1 0.376470588 ENSG00000188986 chr9:137263187-137263187;G/A missense_variant False NELFCD@p.E500Q 1 0.130177515 ENSG00000101158 chr20:58993627-58993627;G/C missense_variant False NELFCD@p.L561P 1 0.063492063 ENSG00000101158 chr20:58994156-58994156;T/C missense_variant False NELFCD@p.R384Q 1 0.536585366 ENSG00000101158 chr20:58991888-58991888;G/A missense_variant False NELFCD@p.R515Q 1 0.356382979 ENSG00000101158 chr20:58993673-58993673;G/A missense_variant False NELFE@p.D167H 1 0.366666667 ENSG00000204356 chr6:31954798-31954798;C/G missense_variant False NELFE@p.D337H 1 0.326829268 ENSG00000204356 chr6:31953765-31953765;C/G missense_variant False NELFE@p.E145D 1 0.277372263 ENSG00000204356 chr6:31954862-31954862;T/A missense_variant False NELFE@p.E154Q 1 0.154255319 ENSG00000204356 chr6:31954837-31954837;C/G missense_variant False NELFE@p.E243Q 1 0.140625 ENSG00000204356 chr6:31954570-31954570;C/G missense_variant False NELL1@p.D461H 1 0.175 ENSG00000165973 chr11:21113669-21113669;G/C missense_variant False NELL1@p.F87V 1 0.126582278 ENSG00000165973 chr11:20783754-20783754;T/G missense_variant False NELL1@p.G743E 1 0.391891892 ENSG00000165973 chr11:21573255-21573255;G/A missense_variant False NELL1@p.M250I 1 0.421686747 ENSG00000165973 chr11:20919325-20919325;G/C missense_variant False NELL1@p.R775P 1 0.20661157 ENSG00000165973 chr11:21573351-21573351;G/C missense_variant False NEK6@p.R39L 1 0.5 ENSG00000119408 chr9:124312534-124312534;G/T missense_variant False NEK5@p.Y170F 1 0.824561404 ENSG00000197168 chr13:52108363-52108363;T/A missense_variant False NELL2@p.D494H 1 0.3125 ENSG00000184613 chr12:44610935-44610935;C/G missense_variant False NEK11@p.R114L 1 0.108108108 ENSG00000114670 chr3:131109807-131109807;G/T missense_variant False NEK1@p.G16E 1 0.367924528 ENSG00000137601 chr4:169602584-169602584;C/T missense_variant False NEK1@p.G1122D 1 0.512820513 ENSG00000137601 chr4:169401786-169401786;C/T missense_variant False NEK1@p.E772K 1 0.266666667 ENSG00000137601 chr4:169477160-169477160;C/T missense_variant False NEK1@p.D1065Y 1 0.066666667 ENSG00000137601 chr4:169406693-169406693;C/A missense_variant False NEK11@p.S414L 1 0.136363636 ENSG00000114670 chr3:131168894-131168894;C/T missense_variant False NEK11@p.R255K 1 0.175925926 ENSG00000114670 chr3:131152504-131152504;G/A missense_variant False NEK11@p.P556Q 1 0.090909091 ENSG00000114670 chr3:131273523-131273523;C/A missense_variant False NEK5@p.Q382E 1 0.259887006 ENSG00000197168 chr13:52093118-52093118;G/C missense_variant False NEK11@p.L166M 1 0.263157895 ENSG00000114670 chr3:131132785-131132785;C/A missense_variant False NEK11@p.I325_Q328del 1 0.297413793 ENSG00000114670 chr3:131162417-131162428;GATCCACCTGCA/- inframe_deletion False NEK11@p.G36C 1 0.36 ENSG00000114670 chr3:131029814-131029814;G/T missense_variant False NEK11@p.G13A 1 0.172413793 ENSG00000114670 chr3:131029746-131029746;G/C missense_variant False NEK11@p.E489K 1 0.366666667 ENSG00000114670 chr3:131228593-131228593;G/A missense_variant False NEK11@p.E432K 1 0.140350877 ENSG00000114670 chr3:131170782-131170782;G/A missense_variant False NEK1@p.R49S 1 0.155844156 ENSG00000137601 chr4:169602075-169602075;C/A missense_variant False NEK1@p.R540L 1 0.170506912 ENSG00000137601 chr4:169537855-169537855;C/A missense_variant False NEK2@p.L202W 1 0.186666667 ENSG00000117650 chr1:211671235-211671235;A/C missense_variant False NEK2@p.L283V 1 0.136 ENSG00000117650 chr1:211669251-211669251;G/C missense_variant False NEK2@p.N350H 1 0.417475728 ENSG00000117650 chr1:211667169-211667169;T/G missense_variant False NEK2@p.R280K 1 0.244565217 ENSG00000117650 chr1:211669259-211669259;C/T missense_variant False NEK3@p.P242S 1 0.285714286 ENSG00000136098 chr13:52144771-52144771;G/A missense_variant False NEK4@p.D380H 1 0.251141553 ENSG00000114904 chr3:52752162-52752162;C/G missense_variant False NEK4@p.E439K 1 0.2 ENSG00000114904 chr3:52751985-52751985;C/T missense_variant False NEK4@p.E46K 1 0.214285714 ENSG00000114904 chr3:52768562-52768562;C/T missense_variant False NEK4@p.H204Y 1 0.427835052 ENSG00000114904 chr3:52765943-52765943;G/A missense_variant False NEK4@p.L122V 1 0.609756098 ENSG00000114904 chr3:52766372-52766372;A/C missense_variant False NEK4@p.S687L 1 0.369230769 ENSG00000114904 chr3:52741444-52741444;G/A missense_variant False NEK5@p.E406K 1 0.32 ENSG00000197168 chr13:52089306-52089306;C/T missense_variant False NEK5@p.E460K 1 0.230769231 ENSG00000197168 chr13:52087352-52087352;C/T missense_variant False NEK5@p.E640K 1 0.459459459 ENSG00000197168 chr13:52071950-52071950;C/T missense_variant False NEK5@p.K580Q 1 0.266666667 ENSG00000197168 chr13:52075817-52075817;T/G missense_variant False NELL2@p.C543F 1 0.125 ENSG00000184613 chr12:44607204-44607204;C/A missense_variant False NELL2@p.E748Q 1 0.366666667 ENSG00000184613 chr12:44520163-44520163;C/G missense_variant False NEURL4@p.G300R 1 0.285714286 ENSG00000215041 chr17:7326905-7326905;C/G missense_variant False NES@p.S1462Y 1 0.414893617 ENSG00000132688 chr1:156669803-156669803;G/T missense_variant False NETO2@p.D89N 1 0.101351351 ENSG00000171208 chr16:47128541-47128541;C/T missense_variant False NETO2@p.D103H 1 0.245762712 ENSG00000171208 chr16:47128499-47128499;C/G missense_variant False NETO1@p.Q40H 1 0.227272727 ENSG00000166342 chr18:72864908-72864908;C/A missense_variant False NETO1@p.I69M 1 0.303571429 ENSG00000166342 chr18:72864821-72864821;G/C missense_variant False NET1@p.S451C 1 0.213114754 ENSG00000173848 chr10:5456241-5456241;C/G missense_variant False NES@p.S905C 1 0.2 ENSG00000132688 chr1:156671474-156671474;G/C missense_variant False NES@p.Q868E 1 0.15720524 ENSG00000132688 chr1:156671586-156671586;G/C missense_variant False NES@p.E506Q 1 0.104651163 ENSG00000132688 chr1:156672672-156672672;C/G missense_variant False NES@p.Q1608H 1 0.339449541 ENSG00000132688 chr1:156669364-156669364;C/G missense_variant False NES@p.Q1490R 1 0.189189189 ENSG00000132688 chr1:156669719-156669719;T/C missense_variant False NES@p.P359H 1 0.157024793 ENSG00000132688 chr1:156673112-156673112;G/T missense_variant False NES@p.G1257R 1 0.099150142 ENSG00000132688 chr1:156670419-156670419;C/G missense_variant False NES@p.G1033E 1 0.110344828 ENSG00000132688 chr1:156671090-156671090;C/T missense_variant False NES@p.E984K 1 0.281425891 ENSG00000132688 chr1:156671238-156671238;C/T missense_variant False NETO2@p.K345N 1 0.301587302 ENSG00000171208 chr16:47083764-47083764;C/G missense_variant False NETO2@p.L76S 1 0.424778761 ENSG00000171208 chr16:47129229-47129229;A/G missense_variant False NEU1@p.E312Q 1 0.636363636 ENSG00000204386 chr6:31860129-31860129;C/G missense_variant False NEU2@p.D336N 1 0.573459716 ENSG00000115488 chr2:233034920-233034920;G/A missense_variant False NEU2@p.P313L 1 0.166666667 ENSG00000115488 chr2:233034852-233034852;C/T missense_variant False NEU2@p.Y359Tfs*11 1 0.2228739 ENSG00000115488 chr2:233034988-233034988;T/- frameshift_variant False NEU3@p.E286K 1 0.252873563 ENSG00000162139 chr11:75005962-75005962;G/A missense_variant False NEU3@p.I216N 1 0.179310345 ENSG00000162139 chr11:75005753-75005753;T/A missense_variant False NEU3@p.L89M 1 0.244444444 ENSG00000162139 chr11:74994679-74994679;C/A missense_variant False NEU3@p.P357R 1 0.392156863 ENSG00000162139 chr11:75006176-75006176;C/G missense_variant False NEU3@p.S152Rfs*21 1 0.096153846 ENSG00000162139 chr11:75005556-75005557;TG/- frameshift_variant False NEU4@p.N463K 1 0.272727273 ENSG00000204099 chr2:241816982-241816982;C/A missense_variant False NEU4@p.N86H 1 0.857142857 ENSG00000204099 chr2:241814946-241814946;A/C missense_variant False NEU4@p.R5C 1 0.133333333 ENSG00000204099 chr2:241814497-241814497;C/T missense_variant False NEURL1@p.R572H 1 0.378787879 ENSG00000107954 chr10:103590362-103590362;G/A missense_variant False NEURL1@p.S427L 1 0.294117647 ENSG00000107954 chr10:103585166-103585166;C/T missense_variant False NEURL4@p.E1199Q 1 0.192307692 ENSG00000215041 chr17:7319139-7319139;C/G missense_variant False NES@p.E941K 1 0.364485981 ENSG00000132688 chr1:156671367-156671367;C/T missense_variant False NES@p.E1211K 1 0.382352941 ENSG00000132688 chr1:156670557-156670557;C/T missense_variant False NELL2@p.Q193R 1 0.412698413 ENSG00000184613 chr12:44779691-44779691;T/C missense_variant False NEMP1@p.C58Wfs*27 1 0.109677419 ENSG00000166881 chr12:57072857-57072866;ACGCTTTTCA/- frameshift_variant False NEO1@p.E535K 1 0.727272727 ENSG00000067141 chr15:73244495-73244495;G/A missense_variant False NEO1@p.E523Q 1 0.166666667 ENSG00000067141 chr15:73244459-73244459;G/C missense_variant False NEO1@p.E295K 1 0.333333333 ENSG00000067141 chr15:73135895-73135895;G/A missense_variant False NEMP1@p.L32F 1 0.320754717 ENSG00000166881 chr12:57078650-57078650;C/G missense_variant False NEMP1@p.E421K 1 0.260869565 ENSG00000166881 chr12:57059953-57059953;C/T missense_variant False NEMP1@p.E405K 1 0.227272727 ENSG00000166881 chr12:57060001-57060001;C/T missense_variant False NEMF@p.S785F 1 0.5 ENSG00000165525 chr14:49800438-49800438;G/A missense_variant False NES@p.E1068K 1 0.278688525 ENSG00000132688 chr1:156670986-156670986;C/T missense_variant False NEMF@p.S748C 1 0.266129032 ENSG00000165525 chr14:49800549-49800549;G/C missense_variant False NEMF@p.P584H 1 0.473684211 ENSG00000165525 chr14:49806127-49806127;G/T missense_variant False NEMF@p.H951Y 1 0.241666667 ENSG00000165525 chr14:49789190-49789190;G/A missense_variant False NEMF@p.E551K 1 0.62 ENSG00000165525 chr14:49814784-49814784;C/T missense_variant False NELL2@p.S118G 1 0.053691275 ENSG00000184613 chr12:44780006-44780006;T/C missense_variant False NELL2@p.Q79E 1 0.438356164 ENSG00000184613 chr12:44816086-44816086;G/C missense_variant False NEO1@p.G1403R 1 0.071428571 ENSG00000067141 chr15:73301362-73301362;G/A missense_variant False NEO1@p.I208M 1 0.2 ENSG00000067141 chr15:73122700-73122700;C/G missense_variant False NEO1@p.K884E 1 0.12244898 ENSG00000067141 chr15:73270165-73270165;A/G missense_variant False NEO1@p.P241S 1 0.229885057 ENSG00000067141 chr15:73122797-73122797;C/T missense_variant False NEO1@p.P278A 1 0.266666667 ENSG00000067141 chr15:73126524-73126524;C/G missense_variant False NEO1@p.Q1195K 1 0.141509434 ENSG00000067141 chr15:73288485-73288485;C/A missense_variant False NEO1@p.R1035Q 1 0.210526316 ENSG00000067141 chr15:73273949-73273949;G/A missense_variant False NEO1@p.S403L 1 0.12345679 ENSG00000067141 chr15:73178344-73178344;C/T missense_variant False NEO1@p.S474C 1 0.397959184 ENSG00000067141 chr15:73236476-73236476;C/G missense_variant False NEPRO@p.C152F 1 0.362068966 ENSG00000163608 chr3:113013290-113013290;C/A missense_variant False NEPRO@p.G510A 1 0.198275862 ENSG00000163608 chr3:113005711-113005711;C/G missense_variant False NEPRO@p.I434M 1 0.23255814 ENSG00000163608 chr3:113005938-113005938;G/C missense_variant False NEPRO@p.I523_E532delinsK 1 0.338709677 ENSG00000163608 chr3:113005646-113005672;CATGGATGCCTCTAAGATTTTCATGAA/- inframe_deletion False NEPRO@p.R452Q 1 0.236842105 ENSG00000163608 chr3:113005885-113005885;C/T missense_variant False NES@p.A1095V 1 0.230769231 ENSG00000132688 chr1:156670904-156670904;G/A missense_variant False NES@p.E1036K 1 0.11 ENSG00000132688 chr1:156671082-156671082;C/T missense_variant False NES@p.E1064Q 1 0.078431373 ENSG00000132688 chr1:156670998-156670998;C/G missense_variant False NFE2L2@p.G81A 1 0.231404959 ENSG00000116044 chr2:177234075-177234075;C/G missense_variant True NFE2L2@p.K533Q 1 0.492753623 ENSG00000116044 chr2:177231006-177231006;T/G missense_variant True NFE2L2@p.K53Q 1 0.546296296 ENSG00000116044 chr2:177234160-177234160;T/G missense_variant True NIN@p.E368K 1 0.619047619 ENSG00000100503 chr14:50771348-50771348;C/T missense_variant False NIN@p.I1822T 1 0.246753247 ENSG00000100503 chr14:50739471-50739471;A/G missense_variant False NIN@p.H1974D 1 0.178571429 ENSG00000100503 chr14:50729681-50729681;G/C missense_variant False NIN@p.E911K 1 0.290909091 ENSG00000100503 chr14:50758299-50758299;C/T missense_variant False NIN@p.E883Q 1 0.717391304 ENSG00000100503 chr14:50758383-50758383;C/G missense_variant False NIN@p.E782K 1 0.327683616 ENSG00000100503 chr14:50759912-50759912;C/T missense_variant False NIN@p.E394K 1 0.5 ENSG00000100503 chr14:50770931-50770931;C/T missense_variant False NIN@p.E2016K 1 0.255813953 ENSG00000100503 chr14:50729555-50729555;C/T missense_variant False NIM1K@p.E170V 1 0.282442748 ENSG00000177453 chr5:43277273-43277273;A/T missense_variant False NIN@p.E1510Q 1 0.121212121 ENSG00000100503 chr14:50756502-50756502;C/G missense_variant False NIN@p.D1694N 1 0.419642857 ENSG00000100503 chr14:50744350-50744350;C/T missense_variant False NIN@p.D1150H 1 0.055555556 ENSG00000100503 chr14:50757582-50757582;C/G missense_variant False NIM1K@p.R22H 1 0.574193548 ENSG00000177453 chr5:43245840-43245840;G/A missense_variant False NIM1K@p.P235T 1 0.094594595 ENSG00000177453 chr5:43280121-43280121;C/A missense_variant False NIM1K@p.G385W 1 0.197674419 ENSG00000177453 chr5:43280571-43280571;G/T missense_variant False NIN@p.I444_L445delinsM 1 0.192982456 ENSG00000100503 chr14:50770488-50770490;AGG/- inframe_deletion False NIN@p.K1220N 1 0.089171975 ENSG00000100503 chr14:50757370-50757370;C/G missense_variant False NIN@p.K1890N 1 0.296875 ENSG00000100503 chr14:50738245-50738245;T/A missense_variant False NIN@p.K2051Q 1 0.282051282 ENSG00000100503 chr14:50725994-50725994;T/G missense_variant False NIN@p.L1735V 1 0.314285714 ENSG00000100503 chr14:50743514-50743514;G/C missense_variant False NIN@p.L833V 1 0.253968254 ENSG00000100503 chr14:50758533-50758533;G/C missense_variant False NIN@p.M1208K 1 0.384057971 ENSG00000100503 chr14:50757407-50757407;A/T missense_variant False NINJ1@p.V126M 1 0.861111111 ENSG00000131669 chr9:93124991-93124991;C/T missense_variant False NINJ2@p.E55K 1 0.270588235 ENSG00000171840 chr12:566049-566049;C/T missense_variant False NINL@p.A471V 1 0.130434783 ENSG00000101004 chr20:25491424-25491424;G/A missense_variant False NINL@p.D1314Ifs*3 1 0.323943662 ENSG00000101004 chr20:25455690-25455690;C/- frameshift_variant False NINL@p.D317N 1 0.147540984 ENSG00000101004 chr20:25500923-25500923;C/T missense_variant False NINL@p.E1002K 1 0.110091743 ENSG00000101004 chr20:25476287-25476287;C/T missense_variant False NINL@p.E1318K 1 0.124260355 ENSG00000101004 chr20:25455678-25455678;C/T missense_variant False NINL@p.E256K 1 0.218543046 ENSG00000101004 chr20:25504047-25504047;C/T missense_variant False NINL@p.E408Q 1 0.555555556 ENSG00000101004 chr20:25496751-25496751;C/G missense_variant False NINL@p.E655K 1 0.209090909 ENSG00000101004 chr20:25479161-25479161;C/T missense_variant False NIM1K@p.E172Q 1 0.114942529 ENSG00000177453 chr5:43277278-43277278;G/C missense_variant False NIFK@p.E194K 1 0.215189873 ENSG00000155438 chr2:121728521-121728521;C/T missense_variant False NINL@p.H683Q 1 0.142857143 ENSG00000101004 chr20:25479075-25479075;G/T missense_variant False NID1@p.P830S 1 0.47761194 ENSG00000116962 chr1:236011960-236011960;G/A missense_variant False NID1@p.S430F 1 0.333333333 ENSG00000116962 chr1:236032649-236032649;G/A missense_variant False NID1@p.S186C 1 0.193181818 ENSG00000116962 chr1:236045652-236045652;G/C missense_variant False NID1@p.R702P 1 0.105263158 ENSG00000116962 chr1:236024093-236024093;C/G missense_variant False NID1@p.R123Q 1 0.247706422 ENSG00000116962 chr1:236048847-236048847;C/T missense_variant False NID1@p.R1044Q 1 0.292307692 ENSG00000116962 chr1:235981707-235981707;C/T missense_variant False NID1@p.Q366E 1 0.186813187 ENSG00000116962 chr1:236041949-236041949;G/C missense_variant False NID1@p.E428K 1 0.126760563 ENSG00000116962 chr1:236038107-236038107;C/T missense_variant False NIFK@p.E124K 1 0.130434783 ENSG00000155438 chr2:121731087-121731087;C/T missense_variant False NICN1@p.I33M 1 0.142857143 ENSG00000145029 chr3:49429141-49429141;G/C missense_variant False NIBAN3@p.L459V 1 0.198113208 ENSG00000167483 chr19:17542247-17542247;C/G missense_variant False NIBAN3@p.K590N 1 0.109090909 ENSG00000167483 chr19:17549454-17549454;G/C missense_variant False NIBAN2@p.S609L 1 0.527777778 ENSG00000136830 chr9:127507260-127507260;G/A missense_variant False NIBAN2@p.S500del 1 0.142857143 ENSG00000136830 chr9:127508134-127508136;TGC/- inframe_deletion False NIBAN2@p.P207R 1 0.545454545 ENSG00000136830 chr9:127517911-127517911;G/C missense_variant False NID1@p.S719L 1 0.239316239 ENSG00000116962 chr1:236017246-236017246;G/A missense_variant False NID1@p.V979F 1 0.594594595 ENSG00000116962 chr1:235985499-235985499;C/A missense_variant False NID2@p.C512R 1 0.459770115 ENSG00000087303 chr14:52042827-52042827;A/G missense_variant False NID2@p.D1044N 1 0.338028169 ENSG00000087303 chr14:52015174-52015174;C/T missense_variant False NID2@p.D234N 1 0.805555556 ENSG00000087303 chr14:52060191-52060191;C/T missense_variant False NID2@p.D402Ffs*39 1 0.27173913 ENSG00000087303 chr14:52053803-52053804;TC/- frameshift_variant False NID2@p.D53H 1 0.491525424 ENSG00000087303 chr14:52068838-52068838;C/G missense_variant False NID2@p.E990K 1 0.235294118 ENSG00000087303 chr14:52019121-52019121;C/T missense_variant False NID2@p.I1118V 1 0.192307692 ENSG00000087303 chr14:52014355-52014355;T/C missense_variant False NID2@p.L540H 1 0.533333333 ENSG00000087303 chr14:52042311-52042311;A/T missense_variant False NID2@p.N417K 1 0.247863248 ENSG00000087303 chr14:52053757-52053757;G/T missense_variant False NID2@p.S452L 1 0.096153846 ENSG00000087303 chr14:52053653-52053653;G/A missense_variant False NID2@p.S816C 1 0.235955056 ENSG00000087303 chr14:52028805-52028805;G/C missense_variant False NIF3L1@p.D323N 1 0.239583333 ENSG00000196290 chr2:200903511-200903511;G/A missense_variant False NIF3L1@p.H277D 1 0.204225352 ENSG00000196290 chr2:200897178-200897178;C/G missense_variant False NIF3L1@p.I269M 1 0.435294118 ENSG00000196290 chr2:200897156-200897156;A/G missense_variant False NIF3L1@p.L374V 1 0.166666667 ENSG00000196290 chr2:200903664-200903664;C/G missense_variant False NINL@p.G937V 1 0.177777778 ENSG00000101004 chr20:25476481-25476481;C/A missense_variant False NINL@p.P706H 1 0.136842105 ENSG00000101004 chr20:25479007-25479007;G/T missense_variant False NIBAN1@p.V655M 1 0.151515152 ENSG00000135842 chr1:184795801-184795801;C/T missense_variant False NKAP@p.E394Q 1 0.483146067 ENSG00000101882 chrX:119925288-119925288;C/G missense_variant False NKAPD1@p.L88P 1 0.217391304 ENSG00000150776 chr11:112080501-112080501;T/C missense_variant False NKAPD1@p.K160Sfs*20 1 0.2 ENSG00000150776 chr11:112082565-112082565;A/- frameshift_variant False NKAP@p.R81T 1 0.363636364 ENSG00000101882 chrX:119943364-119943364;C/G missense_variant False NKAP@p.R402Q 1 0.257142857 ENSG00000101882 chrX:119925263-119925263;C/T missense_variant False NKAP@p.R391Q 1 0.270833333 ENSG00000101882 chrX:119925296-119925296;C/T missense_variant False NKAP@p.M354I 1 0.56 ENSG00000101882 chrX:119930027-119930027;C/T missense_variant False NKAIN4@p.Y190Pfs*4 1 0.113636364 ENSG00000101198 chr20:63242588-63242589;AG/- frameshift_variant False NISCH@p.P1427S 1 0.510948905 ENSG00000010322 chr3:52492246-52492246;C/T missense_variant False NKAIN4@p.F82V 1 0.113636364 ENSG00000101198 chr20:63248844-63248844;A/C missense_variant False NKAIN2@p.W108C 1 0.121212121 ENSG00000188580 chr6:124658236-124658236;G/C missense_variant False NKAIN2@p.R60C 1 0.25 ENSG00000188580 chr6:124283128-124283128;C/T missense_variant False NKAIN2@p.Q191H 1 0.228070175 ENSG00000188580 chr6:124818424-124818424;A/C missense_variant False NIT1@p.D59N 1 0.323232323 ENSG00000158793 chr1:161119210-161119210;G/A missense_variant False NISCH@p.S480L 1 0.088888889 ENSG00000010322 chr3:52480206-52480206;C/T missense_variant False NKAPD1@p.R34K 1 0.195121951 ENSG00000150776 chr11:112078246-112078246;G/A missense_variant False NKAPL@p.E262Q 1 0.269230769 ENSG00000189134 chr6:28260155-28260155;G/C missense_variant False NKAPL@p.E365K 1 0.20625 ENSG00000189134 chr6:28260464-28260464;G/A missense_variant False NKAPL@p.G132A 1 0.297709924 ENSG00000189134 chr6:28259766-28259766;G/C missense_variant False NKAPL@p.K186N 1 0.363636364 ENSG00000189134 chr6:28259929-28259929;G/T missense_variant False NKAPL@p.K383N 1 0.173469388 ENSG00000189134 chr6:28260520-28260520;G/C missense_variant False NKAPL@p.P139L 1 0.124260355 ENSG00000189134 chr6:28259787-28259787;C/T missense_variant False NKAPL@p.P30T 1 0.264705882 ENSG00000189134 chr6:28259459-28259459;C/A missense_variant False NKD1@p.E102K 1 0.315789474 ENSG00000140807 chr16:50621646-50621646;G/A missense_variant False NKD1@p.E79Q 1 0.404958678 ENSG00000140807 chr16:50608336-50608336;G/C missense_variant False NKD1@p.R153Q 1 0.339622642 ENSG00000140807 chr16:50625576-50625576;G/A missense_variant False NKG7@p.E30Q 1 0.616161616 ENSG00000105374 chr19:51372448-51372448;C/G missense_variant False NKG7@p.S130del 1 0.265060241 ENSG00000105374 chr19:51371988-51371990;AGG/- inframe_deletion False NKG7@p.T58M 1 0.157142857 ENSG00000105374 chr19:51372292-51372292;G/A missense_variant False NKG7@p.V71M 1 0.277173913 ENSG00000105374 chr19:51372254-51372254;C/T missense_variant False NKIRAS1@p.E98D 1 0.492063492 ENSG00000197885 chr3:23900850-23900850;C/A missense_variant False NKIRAS1@p.F107L 1 0.264150943 ENSG00000197885 chr3:23900823-23900823;G/C missense_variant False NISCH@p.S1123L 1 0.182608696 ENSG00000010322 chr3:52489590-52489590;C/T missense_variant False NISCH@p.H1440Y 1 0.150793651 ENSG00000010322 chr3:52492285-52492285;C/T missense_variant False NINL@p.Q1143H 1 0.172222222 ENSG00000101004 chr20:25462536-25462536;C/G missense_variant False NIPAL1@p.I219_V222del 1 0.185430464 ENSG00000163293 chr4:48035591-48035602;GTGATCTCCTTG/- inframe_deletion False NIPBL@p.D1155N 1 0.053030303 ENSG00000164190 chr5:37000531-37000531;G/A missense_variant False NIPAL4@p.L80V 1 0.383838384 ENSG00000172548 chr5:157463108-157463108;C/G missense_variant False NIPAL3@p.V254I 1 0.243369735 ENSG00000001461 chr1:24456260-24456260;G/A missense_variant False NIPAL3@p.D347N 1 0.175182482 ENSG00000001461 chr1:24469003-24469003;G/A missense_variant False NIPAL2@p.T147M 1 0.457142857 ENSG00000104361 chr8:98222597-98222597;G/A missense_variant False NIPAL1@p.L149F 1 0.213114754 ENSG00000163293 chr4:48033069-48033069;G/C missense_variant False NIPAL1@p.E191K 1 0.454545455 ENSG00000163293 chr4:48034990-48034990;G/A missense_variant False NISCH@p.E777Q 1 0.432432432 ENSG00000010322 chr3:52487821-52487821;G/C missense_variant False NIPA2@p.S100F 1 0.365269461 ENSG00000140157 chr15:22860640-22860640;C/T missense_variant False NIPA2@p.I188V 1 0.186440678 ENSG00000140157 chr15:22866326-22866326;A/G missense_variant False NIPA1@p.H218Y 1 0.292307692 ENSG00000170113 chr15:22823901-22823901;C/T missense_variant False NIP7@p.V133M 1 0.333333333 ENSG00000132603 chr16:69341294-69341294;G/A missense_variant False NINL@p.R982Q 1 0.20754717 ENSG00000101004 chr20:25476346-25476346;C/T missense_variant False NINL@p.R754H 1 0.351351351 ENSG00000101004 chr20:25477030-25477030;C/T missense_variant False NIPBL@p.D1752N 1 0.215753425 ENSG00000164190 chr5:37020803-37020803;G/A missense_variant False NIPBL@p.E1577K 1 0.635416667 ENSG00000164190 chr5:37016123-37016123;G/A missense_variant False NIPBL@p.E1711Q 1 0.1484375 ENSG00000164190 chr5:37020579-37020579;G/C missense_variant False NIPBL@p.E2609K 1 0.275 ENSG00000164190 chr5:37060983-37060983;G/A missense_variant False NIPBL@p.K1173N 1 0.135135135 ENSG00000164190 chr5:37000833-37000833;G/T missense_variant False NIPBL@p.Q1973E 1 0.166666667 ENSG00000164190 chr5:37036433-37036433;C/G missense_variant False NIPBL@p.Q439H 1 0.309859155 ENSG00000164190 chr5:36976224-36976224;G/C missense_variant False NIPBL@p.R2501W 1 0.377952756 ENSG00000164190 chr5:37058981-37058981;C/T missense_variant False NIPBL@p.S2272L 1 0.117241379 ENSG00000164190 chr5:37049162-37049162;C/T missense_variant False NIPSNAP1@p.G219R 1 0.136094675 ENSG00000184117 chr22:29560785-29560785;C/G missense_variant False NIPSNAP2@p.E218K 1 0.433212996 ENSG00000146729 chr7:55994928-55994928;G/A missense_variant False NIPSNAP3A@p.E201D 1 0.3 ENSG00000136783 chr9:104759107-104759107;G/C missense_variant False NIPSNAP3A@p.R40C 1 0.456521739 ENSG00000136783 chr9:104751013-104751013;C/T missense_variant False NISCH@p.A1048T 1 0.325581395 ENSG00000010322 chr3:52489364-52489364;G/A missense_variant False NISCH@p.E1118D 1 0.12745098 ENSG00000010322 chr3:52489576-52489576;G/C missense_variant False NISCH@p.E1379K 1 0.375 ENSG00000010322 chr3:52492102-52492102;G/A missense_variant False NISCH@p.E368K 1 0.104166667 ENSG00000010322 chr3:52478211-52478211;G/A missense_variant False NIBAN2@p.M215I 1 0.433333333 ENSG00000136830 chr9:127517886-127517886;C/T missense_variant False NIBAN1@p.L393V 1 0.71641791 ENSG00000135842 chr1:184808232-184808232;G/C missense_variant False NFE2L2@p.L30_S33del 1 0.25 ENSG00000116044 chr2:177234217-177234228;GACTTACTCCAA/- inframe_deletion True NFKBIE@p.D475E 1 0.179104478 ENSG00000146232 chr6:44260055-44260055;G/T missense_variant False NFKBIZ@p.H204L 1 0.5 ENSG00000144802 chr3:101853137-101853137;A/T missense_variant False NFKBIZ@p.E426Q 1 0.423529412 ENSG00000144802 chr3:101853802-101853802;G/C missense_variant False NFKBIZ@p.D498Y 1 0.204081633 ENSG00000144802 chr3:101855110-101855110;G/T missense_variant False NFKBIL1@p.D90Y 1 0.538461538 ENSG00000204498 chr6:31548373-31548373;G/T missense_variant False NFKBIE@p.N367H 1 0.428571429 ENSG00000146232 chr6:44261635-44261635;T/G missense_variant False NFKBIE@p.E471K 1 0.133802817 ENSG00000146232 chr6:44260069-44260069;C/T missense_variant False NFKBID@p.Y66N 1 0.436363636 ENSG00000167604 chr19:35896788-35896788;A/T missense_variant False NFKB2@p.M146I 1 0.306122449 ENSG00000077150 chr10:102397344-102397344;G/C missense_variant False NFKBIB@p.R152W 1 0.671641791 ENSG00000104825 chr19:38905370-38905370;C/T missense_variant False NFKBIB@p.L113R 1 0.18852459 ENSG00000104825 chr19:38905254-38905254;T/G missense_variant False NFKBIB@p.D321H 1 0.166666667 ENSG00000104825 chr19:38907651-38907651;G/C missense_variant False NFKBIA@p.W66C 1 0.172413793 ENSG00000100906 chr14:35404447-35404447;C/A missense_variant False NFKBIA@p.R143P 1 0.122807018 ENSG00000100906 chr14:35403269-35403269;C/G missense_variant False NFKBIA@p.E41K 1 0.230769231 ENSG00000100906 chr14:35404524-35404524;C/T missense_variant False NFKBIZ@p.K166Sfs*5 1 0.471698113 ENSG00000144802 chr3:101852921-101852932;AAAGGGCCCGAT/TCCA frameshift_variant False NFRKB@p.E13Q 1 0.169230769 ENSG00000170322 chr11:129892813-129892813;C/G missense_variant False NFRKB@p.I106F 1 0.397849462 ENSG00000170322 chr11:129888615-129888615;T/A missense_variant False NFRKB@p.L382F 1 0.527777778 ENSG00000170322 chr11:129882133-129882133;G/A missense_variant False NFRKB@p.Q835H 1 0.134751773 ENSG00000170322 chr11:129873790-129873790;C/G missense_variant False NFRKB@p.R1260H 1 0.55 ENSG00000170322 chr11:129864846-129864846;C/T missense_variant False NFRKB@p.R971Q 1 0.475177305 ENSG00000170322 chr11:129870113-129870113;C/T missense_variant False NFRKB@p.S766L 1 0.470588235 ENSG00000170322 chr11:129873998-129873998;G/A missense_variant False NFS1@p.I354M 1 0.404109589 ENSG00000244005 chr20:35674424-35674424;G/C missense_variant False NFS1@p.P43S 1 0.223684211 ENSG00000244005 chr20:35698561-35698561;G/A missense_variant False NFS1@p.R105C 1 0.177570093 ENSG00000244005 chr20:35697695-35697695;G/A missense_variant False NFS1@p.S383C 1 0.22972973 ENSG00000244005 chr20:35673673-35673673;G/C missense_variant False NFX1@p.D550N 1 0.285714286 ENSG00000086102 chr9:33318790-33318790;G/A missense_variant False NFX1@p.D922H 1 0.263157895 ENSG00000086102 chr9:33354120-33354120;G/C missense_variant False NFX1@p.E141Q 1 0.513513514 ENSG00000086102 chr9:33294815-33294815;G/C missense_variant False NFX1@p.E3K 1 0.122807018 ENSG00000086102 chr9:33290579-33290579;G/A missense_variant False NFX1@p.E727K 1 0.326530612 ENSG00000086102 chr9:33342809-33342809;G/A missense_variant False NFKBIA@p.D307N 1 0.086021505 ENSG00000100906 chr14:35402048-35402048;C/T missense_variant False NFKB2@p.G64R 1 0.072916667 ENSG00000077150 chr10:102396770-102396770;G/A missense_variant False NFX1@p.R839Efs*12 1 0.384615385 ENSG00000086102 chr9:33351647-33351648;-/A frameshift_variant False NFE2L3@p.E444K 1 0.246575342 ENSG00000050344 chr7:26185028-26185028;G/A missense_variant False NFE2L3@p.S297C 1 0.235042735 ENSG00000050344 chr7:26184588-26184588;C/G missense_variant False NFE2L3@p.N254Lfs*38 1 0.166666667 ENSG00000050344 chr7:26183708-26183720;TGAATGGGACAGA/- frameshift_variant False NFE2L3@p.L423Ffs*7 1 0.346733668 ENSG00000050344 chr7:26184963-26184964;-/T frameshift_variant False NFE2L3@p.I672M 1 0.081632653 ENSG00000050344 chr7:26185714-26185714;C/G missense_variant False NFE2L3@p.H348Y 1 0.289855072 ENSG00000050344 chr7:26184740-26184740;C/T missense_variant False NFE2L3@p.G670R 1 0.390728477 ENSG00000050344 chr7:26185706-26185706;G/A missense_variant False NFE2L3@p.D418Y 1 0.495145631 ENSG00000050344 chr7:26184950-26184950;G/T missense_variant False NFKB1@p.T882I 1 0.121212121 ENSG00000109320 chr4:102613480-102613480;C/T missense_variant False NFE2L2@p.W24R 1 0.115384615 ENSG00000116044 chr2:177234247-177234247;A/G missense_variant True NFE2L2@p.V417M 1 0.205405405 ENSG00000116044 chr2:177231354-177231354;C/T missense_variant True NFE2L2@p.T80I 1 0.3 ENSG00000116044 chr2:177234078-177234078;G/A missense_variant True NFE2L2@p.R34P 1 0.872340426 ENSG00000116044 chr2:177234216-177234216;C/G missense_variant True NFE2L2@p.Q161E 1 0.12345679 ENSG00000116044 chr2:177232505-177232505;G/C missense_variant True NFE2L2@p.P600R 1 0.087719298 ENSG00000116044 chr2:177230804-177230804;G/C missense_variant True NFE2L3@p.S417Y 1 0.404580153 ENSG00000050344 chr7:26184948-26184948;C/A missense_variant False NFE2L3@p.S509C 1 0.164556962 ENSG00000050344 chr7:26185224-26185224;C/G missense_variant False NFE2L3@p.S550F 1 0.109090909 ENSG00000050344 chr7:26185347-26185347;C/T missense_variant False NFE2L3@p.V555I 1 0.119266055 ENSG00000050344 chr7:26185361-26185361;G/A missense_variant False NFIA@p.A411V 1 0.457142857 ENSG00000162599 chr1:61404260-61404260;C/T missense_variant False NFIA@p.E398Q 1 0.094339623 ENSG00000162599 chr1:61404220-61404220;G/C missense_variant False NFIA@p.M262I 1 0.4375 ENSG00000162599 chr1:61352535-61352535;G/C missense_variant False NFIA@p.S106C 1 0.068493151 ENSG00000162599 chr1:61088438-61088438;C/G missense_variant False NFIB@p.E53K 1 0.094594595 ENSG00000147862 chr9:14307394-14307394;C/T missense_variant False NFIB@p.P293A 1 0.311926606 ENSG00000147862 chr9:14146737-14146737;G/C missense_variant False NFIB@p.S255L 1 0.461290323 ENSG00000147862 chr9:14150187-14150187;G/A missense_variant False NFIB@p.T302A 1 0.304347826 ENSG00000147862 chr9:14146710-14146710;T/C missense_variant False NFIC@p.D415N 1 0.117647059 ENSG00000141905 chr19:3452640-3452640;G/A missense_variant False NFIL3@p.E118Q 1 0.380952381 ENSG00000165030 chr9:91410383-91410383;C/G missense_variant False NFIL3@p.V383E 1 0.421965318 ENSG00000165030 chr9:91409587-91409587;A/T missense_variant False NFKB1@p.L951V 1 0.24 ENSG00000109320 chr4:102616538-102616538;C/G missense_variant False NFKB1@p.Q557E 1 0.46031746 ENSG00000109320 chr4:102600929-102600929;C/G missense_variant False NFX1@p.Q1039K 1 0.369369369 ENSG00000086102 chr9:33366704-33366704;C/A missense_variant False NFX1@p.S493L 1 0.109195402 ENSG00000086102 chr9:33313683-33313683;C/T missense_variant False NIBAN1@p.L294F 1 0.054744526 ENSG00000135842 chr1:184823270-184823270;C/G missense_variant False NHLRC2@p.E721Q 1 0.1875 ENSG00000196865 chr10:113908516-113908516;G/C missense_variant False NHLRC4@p.Q35Hfs*38 1 0.285714286 ENSG00000257108 chr16:568151-568151;A/- frameshift_variant False NHLRC4@p.F24I 1 0.260869565 ENSG00000257108 chr16:568117-568117;T/A missense_variant False NHLRC3@p.R236T 1 0.318181818 ENSG00000188811 chr13:39047068-39047068;G/C missense_variant False NHLRC3@p.E326K 1 0.05 ENSG00000188811 chr13:39047858-39047858;G/A missense_variant False NHLRC2@p.S626L 1 0.237288136 ENSG00000196865 chr10:113904989-113904989;C/T missense_variant False NHLRC2@p.G514E 1 0.245614035 ENSG00000196865 chr10:113903573-113903573;G/A missense_variant False NHLRC2@p.E331K 1 0.162162162 ENSG00000196865 chr10:113884332-113884332;G/A missense_variant False NHLRC1@p.E18K 1 0.868571429 ENSG00000187566 chr6:18122555-18122555;C/T missense_variant False NHLRC2@p.D236N 1 0.462962963 ENSG00000196865 chr10:113876895-113876895;G/A missense_variant False NHLRC1@p.T125Pfs*107 1 0.125 ENSG00000187566 chr6:18122235-18122235;C/- frameshift_variant False NHLRC1@p.P353S 1 0.325581395 ENSG00000187566 chr6:18121550-18121550;G/A missense_variant False NHLRC1@p.E7Q 1 0.25 ENSG00000187566 chr6:18122588-18122588;C/G missense_variant False NHLRC1@p.E255K 1 0.3125 ENSG00000187566 chr6:18121844-18121844;C/T missense_variant False NHLRC1@p.E222Q 1 0.333333333 ENSG00000187566 chr6:18121943-18121943;C/G missense_variant False NHLRC4@p.S39F 1 0.263157895 ENSG00000257108 chr16:568163-568163;C/T missense_variant False NHP2@p.L103F 1 0.09478673 ENSG00000145912 chr5:178150915-178150915;C/A missense_variant False NHS@p.A592V 1 0.895522388 ENSG00000188158 chrX:17725944-17725944;C/T missense_variant False NHS@p.C729F 1 0.248407643 ENSG00000188158 chrX:17726355-17726355;G/T missense_variant False NHS@p.H306R 1 0.977272727 ENSG00000188158 chrX:17721505-17721505;A/G missense_variant False NHS@p.L871V 1 0.277777778 ENSG00000188158 chrX:17726780-17726780;C/G missense_variant False NHS@p.P1000L 1 0.633802817 ENSG00000188158 chrX:17727168-17727168;C/T missense_variant False NHS@p.P980S 1 0.125 ENSG00000188158 chrX:17727107-17727107;C/T missense_variant False NHS@p.R1446Q 1 0.945652174 ENSG00000188158 chrX:17731908-17731908;G/A missense_variant False NHS@p.R833H 1 0.928571429 ENSG00000188158 chrX:17726667-17726667;G/A missense_variant False NHS@p.T1201S 1 0.225490196 ENSG00000188158 chrX:17727771-17727771;C/G missense_variant False NHS@p.T1310S 1 0.714285714 ENSG00000188158 chrX:17728098-17728098;C/G missense_variant False NHSL2@p.Q622H 1 0.65 ENSG00000204131 chrX:72140512-72140512;G/T missense_variant False NIBAN1@p.D183N 1 0.133333333 ENSG00000135842 chr1:184884687-184884687;C/T missense_variant False NIBAN1@p.E22Q 1 0.836363636 ENSG00000135842 chr1:184899301-184899301;C/G missense_variant False NIBAN1@p.E364K 1 0.490842491 ENSG00000135842 chr1:184818721-184818721;C/T missense_variant False NIBAN1@p.K84N 1 0.522222222 ENSG00000135842 chr1:184894141-184894141;C/A missense_variant False NHLRC1@p.E18Q 1 0.157894737 ENSG00000187566 chr6:18122555-18122555;C/G missense_variant False NHLRC1@p.D328H 1 0.426035503 ENSG00000187566 chr6:18121625-18121625;C/G missense_variant False NFXL1@p.D475N 1 0.19047619 ENSG00000170448 chr4:47894209-47894209;C/T missense_variant False NFYA@p.S72L 1 0.148148148 ENSG00000001167 chr6:41084098-41084098;C/T missense_variant False NGEF@p.Q626K 1 0.263157895 ENSG00000066248 chr2:232881212-232881212;G/T missense_variant False NGEF@p.F405L 1 0.266666667 ENSG00000066248 chr2:232891415-232891415;G/C missense_variant False NGEF@p.E670del 1 0.29787234 ENSG00000066248 chr2:232879612-232879614;CTC/- inframe_deletion False NGDN@p.R306Q 1 0.186046512 ENSG00000129460 chr14:23477549-23477549;G/A missense_variant False NGDN@p.M245I 1 0.22 ENSG00000129460 chr14:23477221-23477221;G/A missense_variant False NFYB@p.S207L 1 0.063829787 ENSG00000120837 chr12:104119741-104119741;G/A missense_variant False NFXL1@p.S619F 1 0.3125 ENSG00000170448 chr4:47884406-47884406;G/A missense_variant False NHLH2@p.E22Q 1 0.235294118 ENSG00000177551 chr1:115838309-115838309;C/G missense_variant False NFXL1@p.S574C 1 0.235294118 ENSG00000170448 chr4:47885601-47885601;G/C missense_variant False NFXL1@p.S417Afs*78 1 0.166666667 ENSG00000170448 chr4:47896582-47896603;ATTCAAGTACTTTGTCACAACT/- frameshift_variant False NFXL1@p.S109C 1 0.409090909 ENSG00000170448 chr4:47910904-47910904;G/C missense_variant False NFXL1@p.R337T 1 0.203389831 ENSG00000170448 chr4:47898836-47898836;C/G missense_variant False NFXL1@p.K803Q 1 0.107526882 ENSG00000170448 chr4:47855073-47855073;T/G missense_variant False NFXL1@p.G112V 1 0.515151515 ENSG00000170448 chr4:47910895-47910895;C/A missense_variant False NGEF@p.R83W 1 0.474226804 ENSG00000066248 chr2:232974644-232974644;G/A missense_variant False NGEF@p.V324L 1 0.2 ENSG00000066248 chr2:232894775-232894775;C/A missense_variant False NGF@p.R224Q 1 0.076923077 ENSG00000134259 chr1:115286125-115286125;C/T missense_variant False NGF@p.R86H 1 0.268292683 ENSG00000134259 chr1:115286539-115286539;C/T missense_variant False NGFR@p.E415D 1 0.428571429 ENSG00000064300 chr17:49512970-49512970;G/C missense_variant False NGFR@p.E88Q 1 0.127272727 ENSG00000064300 chr17:49506352-49506352;G/C missense_variant False NGFR@p.Q393K 1 0.430769231 ENSG00000064300 chr17:49512902-49512902;C/A missense_variant False NGLY1@p.E326K 1 0.303030303 ENSG00000151092 chr3:25737361-25737361;C/T missense_variant False NGLY1@p.E407K 1 0.084337349 ENSG00000151092 chr3:25733913-25733913;C/T missense_variant False NGLY1@p.K118N 1 0.25 ENSG00000151092 chr3:25764204-25764204;C/G missense_variant False NGLY1@p.K488N 1 0.444444444 ENSG00000151092 chr3:25729280-25729280;C/G missense_variant False NGLY1@p.P90S 1 0.090909091 ENSG00000151092 chr3:25764290-25764290;G/A missense_variant False NGLY1@p.S462L 1 0.31496063 ENSG00000151092 chr3:25732359-25732359;G/A missense_variant False NGLY1@p.T63N 1 0.1875 ENSG00000151092 chr3:25778632-25778632;G/T missense_variant False NGRN@p.R19C 1 0.245283019 ENSG00000182768 chr15:90265767-90265767;C/T missense_variant False NHEJ1@p.D40N 1 0.209150327 ENSG00000187736 chr2:219158245-219158245;C/T missense_variant False NHEJ1@p.S113C 1 0.481012658 ENSG00000187736 chr2:219157524-219157524;G/C missense_variant False MYO5A@p.R178Q 1 0.25 ENSG00000197535 chr15:52416224-52416224;C/T missense_variant False MYO5A@p.L243F 1 0.327868852 ENSG00000197535 chr15:52410362-52410362;G/A missense_variant False NPAP1@p.S495Y 1 0.276041667 ENSG00000185823 chr15:24677351-24677351;C/A missense_variant False MREG@p.M55I 1 0.166666667 ENSG00000118242 chr2:215996396-215996396;C/G missense_variant False MRGPRE@p.R103C 1 0.658536585 ENSG00000184350 chr11:3228493-3228493;G/A missense_variant False MRGPRE@p.N42D 1 0.37804878 ENSG00000184350 chr11:3228676-3228676;T/C missense_variant False MRGPRD@p.S226F 1 0.12195122 ENSG00000172938 chr11:68980310-68980310;G/A missense_variant False MRGBP@p.W78G 1 0.172413793 ENSG00000101189 chr20:62797193-62797193;T/G missense_variant False MRGBP@p.E94Q 1 0.298449612 ENSG00000101189 chr20:62798596-62798596;G/C missense_variant False MREG@p.T158A 1 0.0625 ENSG00000118242 chr2:215945609-215945609;T/C missense_variant False MREG@p.D93N 1 0.714285714 ENSG00000118242 chr2:215947092-215947092;C/T missense_variant False MRGPRF@p.I253M 1 0.583333333 ENSG00000172935 chr11:69005551-69005551;G/C missense_variant False MREG@p.A175T 1 0.272727273 ENSG00000118242 chr2:215944985-215944985;C/T missense_variant False MRE11@p.S558F 1 0.486956522 ENSG00000020922 chr11:94447329-94447329;G/A missense_variant False MRE11@p.S119L 1 0.227848101 ENSG00000020922 chr11:94479720-94479720;G/A missense_variant False MRE11@p.Q438E 1 0.75 ENSG00000020922 chr11:94460950-94460950;G/C missense_variant False MRE11@p.N413S 1 0.333333333 ENSG00000020922 chr11:94461024-94461024;T/C missense_variant False MRC2@p.R783Q 1 0.571428571 ENSG00000011028 chr17:62680219-62680219;G/A missense_variant False MRGPRF@p.E23K 1 0.283333333 ENSG00000172935 chr11:69006243-69006243;C/T missense_variant False MRGPRX1@p.A70T 1 0.279220779 ENSG00000170255 chr11:18934577-18934577;C/T missense_variant False MRPL21@p.F141L 1 0.5 ENSG00000197345 chr11:68893429-68893429;G/T missense_variant False MRGPRX3@p.V144I 1 0.474137931 ENSG00000179826 chr11:18137632-18137632;G/A missense_variant False MRM1@p.S192R 1 0.333333333 ENSG00000278619 chr17:36602586-36602586;C/G missense_variant False MRM1@p.P186A 1 0.155844156 ENSG00000278619 chr17:36602566-36602566;C/G missense_variant False MRM1@p.G170E 1 0.137254902 ENSG00000278619 chr17:36602319-36602319;G/A missense_variant False MRM1@p.E346Q 1 0.276595745 ENSG00000278619 chr17:36608389-36608389;G/C missense_variant False MRM1@p.E122Q 1 0.071428571 ENSG00000278619 chr17:36602174-36602174;G/C missense_variant False MRM1@p.D108N 1 0.435483871 ENSG00000278619 chr17:36602132-36602132;G/A missense_variant False MRGPRX3@p.I88M 1 0.427184466 ENSG00000179826 chr11:18137466-18137466;C/G missense_variant False MRGPRX1@p.N286K 1 0.396396396 ENSG00000170255 chr11:18933927-18933927;G/C missense_variant False MRGPRX2@p.R61K 1 0.701298701 ENSG00000183695 chr11:19056221-19056221;C/T missense_variant False MRGPRX2@p.L198F 1 0.094594595 ENSG00000183695 chr11:19055811-19055811;G/A missense_variant False MRGPRX1@p.Y99C 1 0.3 ENSG00000170255 chr11:18934489-18934489;T/C missense_variant False MRGPRX1@p.V275M 1 0.223684211 ENSG00000170255 chr11:18933962-18933962;C/T missense_variant False MRGPRX1@p.S206F 1 0.169014085 ENSG00000170255 chr11:18934168-18934168;G/A missense_variant False MRGPRX1@p.R57P 1 0.943396226 ENSG00000170255 chr11:18934615-18934615;C/G missense_variant False MRC2@p.N348Tfs*31 1 0.266272189 ENSG00000011028 chr17:62667458-62667458;A/- frameshift_variant False MRC2@p.M1332I 1 0.25 ENSG00000011028 chr17:62690745-62690745;G/T missense_variant False MRC2@p.I285M 1 0.19047619 ENSG00000011028 chr17:62666615-62666615;C/G missense_variant False MRAP@p.E15K 1 0.210526316 ENSG00000170262 chr21:32299014-32299014;G/A missense_variant False MRC1@p.F1208V 1 0.152173913 ENSG00000260314 chr10:17900926-17900926;T/G missense_variant False MRC1@p.E394D 1 0.204255319 ENSG00000260314 chr10:17849697-17849697;A/C missense_variant False MRC1@p.D802E 1 0.134502924 ENSG00000260314 chr10:17875109-17875109;T/A missense_variant False MRC1@p.A48T 1 0.509090909 ENSG00000260314 chr10:17823154-17823154;G/A missense_variant False MRAS@p.V124M 1 0.476744186 ENSG00000158186 chr3:138398491-138398491;G/A missense_variant False MRAS@p.Q59K 1 0.467065868 ENSG00000158186 chr3:138373058-138373058;C/A missense_variant False MRAP2@p.Q4H 1 0.277777778 ENSG00000135324 chr6:84055330-84055330;G/C missense_variant False MRC2@p.H721L 1 0.203703704 ENSG00000011028 chr17:62678613-62678613;A/T missense_variant False MR1@p.M234I 1 0.472972973 ENSG00000153029 chr1:181052332-181052332;G/C missense_variant False MR1@p.I334M 1 0.153061224 ENSG00000153029 chr1:181055241-181055241;C/G missense_variant False MR1@p.F95L 1 0.157894737 ENSG00000153029 chr1:181049269-181049269;C/G missense_variant False MPZL3@p.I113V 1 0.19047619 ENSG00000160588 chr11:118237164-118237164;T/C missense_variant False MPZL3@p.A185S 1 0.064516129 ENSG00000160588 chr11:118235488-118235488;C/A missense_variant False MPZL2@p.E204Q 1 0.114035088 ENSG00000149573 chr11:118257288-118257288;C/G missense_variant False MRC1@p.G120D 1 0.575163399 ENSG00000260314 chr10:17823371-17823371;G/A missense_variant False MRC1@p.G120S 1 0.457746479 ENSG00000260314 chr10:17823370-17823370;G/A missense_variant False MRC1@p.G948V 1 0.138235294 ENSG00000260314 chr10:17880648-17880648;G/T missense_variant False MRC1@p.L1211F 1 0.152941176 ENSG00000260314 chr10:17900935-17900935;C/T missense_variant False MRC1@p.M1441I 1 0.244173141 ENSG00000260314 chr10:17910417-17910417;G/A missense_variant False MRC1@p.N1012D 1 0.107344633 ENSG00000260314 chr10:17885322-17885322;A/G missense_variant False MRC1@p.N773K 1 0.109090909 ENSG00000260314 chr10:17872101-17872101;C/A missense_variant False MRC1@p.N954T 1 0.136231884 ENSG00000260314 chr10:17880666-17880666;A/C missense_variant False MRC1@p.P1240S 1 0.110891089 ENSG00000260314 chr10:17902041-17902041;C/T missense_variant False MRC1@p.R385S 1 0.174528302 ENSG00000260314 chr10:17849670-17849670;G/C missense_variant False MRC1@p.R701Q 1 0.096989967 ENSG00000260314 chr10:17870364-17870364;G/A missense_variant False MRC1@p.S1326C 1 0.150684932 ENSG00000260314 chr10:17907597-17907597;C/G missense_variant False MRC1@p.S64C 1 0.068965517 ENSG00000260314 chr10:17823203-17823203;C/G missense_variant False MRC1@p.Y1353C 1 0.185 ENSG00000260314 chr10:17907678-17907678;A/G missense_variant False MRC2@p.E1049K 1 0.170731707 ENSG00000011028 chr17:62688584-62688584;G/A missense_variant False MRC2@p.E454Q 1 0.25 ENSG00000011028 chr17:62672051-62672051;G/C missense_variant False MRC2@p.E895K 1 0.202531646 ENSG00000011028 chr17:62681110-62681110;G/A missense_variant False MRM1@p.T6Sfs*20 1 0.194244604 ENSG00000278619 chr17:36601822-36601852;CTCGACCGTCCGGGGCGCGACCTGGGGTCGC/- frameshift_variant False MRM2@p.G16V 1 0.195876289 ENSG00000286192 chr7:2239669-2239669;C/A missense_variant False MRM2@p.Q200E 1 0.120967742 ENSG00000286192 chr7:2235265-2235265;G/C missense_variant False MROH7@p.L1248F 1 0.26984127 ENSG00000184313 chr1:54709959-54709959;G/C missense_variant False MROH9@p.D475Tfs*32 1 0.404109589 ENSG00000117501 chr1:170996590-170996590;G/- frameshift_variant False MROH8@p.M464I 1 0.095890411 ENSG00000101353 chr20:37115200-37115200;C/T missense_variant False MROH8@p.L94F 1 0.25 ENSG00000101353 chr20:37143807-37143807;C/G missense_variant False MROH7@p.Q467L 1 0.230769231 ENSG00000184313 chr1:54670507-54670507;A/T missense_variant False MROH7@p.M327I 1 0.091286307 ENSG00000184313 chr1:54653907-54653907;G/A missense_variant False MROH7@p.L65F 1 0.265625 ENSG00000184313 chr1:54653121-54653121;G/C missense_variant False MROH7@p.I640M 1 0.504950495 ENSG00000184313 chr1:54674135-54674135;T/G missense_variant False MROH5@p.T305K 1 0.290909091 ENSG00000226807 chr8:141479971-141479971;G/T missense_variant False MROH7@p.D811N 1 0.480620155 ENSG00000184313 chr1:54682705-54682705;G/A missense_variant False MROH7@p.D632N 1 0.105527638 ENSG00000184313 chr1:54674109-54674109;G/A missense_variant False MROH7@p.D116N 1 0.476190476 ENSG00000184313 chr1:54653272-54653272;G/A missense_variant False MROH6@p.S136F 1 0.148148148 ENSG00000204839 chr8:143572073-143572073;G/A missense_variant False MROH6@p.P263S 1 0.444444444 ENSG00000204839 chr8:143570591-143570591;G/A missense_variant False MROH6@p.L569F 1 0.2 ENSG00000204839 chr8:143568199-143568199;C/G missense_variant False MROH9@p.E376K 1 0.657142857 ENSG00000117501 chr1:170992261-170992261;G/A missense_variant False MROH9@p.E515K 1 0.3125 ENSG00000117501 chr1:170998221-170998221;G/A missense_variant False MROH9@p.I319M 1 0.427672956 ENSG00000117501 chr1:170989932-170989932;C/G missense_variant False MROH9@p.L494V 1 0.116504854 ENSG00000117501 chr1:170998158-170998158;C/G missense_variant False MRPL10@p.H119Y 1 0.115789474 ENSG00000159111 chr17:47827072-47827072;G/A missense_variant False MRPL11@p.E119Q 1 0.272727273 ENSG00000174547 chr11:66437222-66437222;C/G missense_variant False MRPL11@p.G32R 1 0.773584906 ENSG00000174547 chr11:66438661-66438661;C/G missense_variant False MRPL15@p.E231K 1 0.14 ENSG00000137547 chr8:54147519-54147519;G/A missense_variant False MRPL16@p.L69S 1 0.571428571 ENSG00000166902 chr11:59807765-59807765;A/G missense_variant False MRPL16@p.R7C 1 0.35625 ENSG00000166902 chr11:59810640-59810640;G/A missense_variant False MRPL17@p.D67N 1 0.725 ENSG00000158042 chr11:6682791-6682791;C/T missense_variant False MRPL17@p.E23Q 1 0.409090909 ENSG00000158042 chr11:6683230-6683230;C/G missense_variant False MRPL18@p.E126D 1 0.058823529 ENSG00000112110 chr6:159797425-159797425;G/C missense_variant False MRPL19@p.L117V 1 0.296 ENSG00000115364 chr2:75652531-75652531;C/G missense_variant False MRPL19@p.R170W 1 0.355769231 ENSG00000115364 chr2:75654768-75654768;C/T missense_variant False MRPL1@p.A199G 1 0.347826087 ENSG00000169288 chr4:77894176-77894176;C/G missense_variant False MRPL1@p.K232Q 1 0.130434783 ENSG00000169288 chr4:77909289-77909289;A/C missense_variant False MROH6@p.E551Q 1 0.214285714 ENSG00000204839 chr8:143568255-143568255;C/G missense_variant False MROH5@p.R1155W 1 0.387755102 ENSG00000226807 chr8:141436002-141436002;T/A missense_variant False MRM2@p.R203W 1 0.377358491 ENSG00000286192 chr7:2235256-2235256;G/A missense_variant False MRNIP@p.R273T 1 0.319587629 ENSG00000161010 chr5:179837605-179837605;C/G missense_variant False MROH1@p.R816G 1 0.16 ENSG00000179832 chr8:144243587-144243587;C/G missense_variant False MROH1@p.R1542L 1 0.117647059 ENSG00000179832 chr8:144260995-144260995;G/T missense_variant False MROH1@p.R1296S 1 0.538461538 ENSG00000179832 chr8:144258873-144258873;G/C missense_variant False MROH1@p.R1172T 1 0.230769231 ENSG00000179832 chr8:144254899-144254899;G/C missense_variant False MROH1@p.P494T 1 0.396551724 ENSG00000179832 chr8:144239068-144239068;C/A missense_variant False MROH1@p.G1136R 1 0.419354839 ENSG00000179832 chr8:144250344-144250344;G/C missense_variant False MRNIP@p.I219M 1 0.117647059 ENSG00000161010 chr5:179837766-179837766;G/C missense_variant False MROH5@p.Q1178R 1 0.1 ENSG00000226807 chr8:141435932-141435932;T/C missense_variant False MRNIP@p.H241_L250del 1 0.375 ENSG00000161010 chr5:179837671-179837700;TGAAGAGACCTTGGCTGCTCACTGTCCACA/- inframe_deletion False MRNIP@p.E136Q 1 0.065743945 ENSG00000161010 chr5:179841950-179841950;C/G missense_variant False MRM3@p.W333S 1 0.212765957 ENSG00000171861 chr17:791804-791804;G/C missense_variant False MRM3@p.S229Y 1 0.444444444 ENSG00000171861 chr17:788091-788091;C/A missense_variant False MRM3@p.M314I 1 0.2 ENSG00000171861 chr17:791748-791748;G/A missense_variant False MRM3@p.L212F 1 0.312217195 ENSG00000171861 chr17:788041-788041;G/C missense_variant False MROH1@p.R955H 1 0.178571429 ENSG00000179832 chr8:144245253-144245253;G/A missense_variant False MROH2B@p.D14N 1 0.333333333 ENSG00000171495 chr5:41069741-41069741;C/T missense_variant False MROH2B@p.D700H 1 0.170731707 ENSG00000171495 chr5:41038852-41038852;C/G missense_variant False MROH2B@p.E1467Q 1 0.242424242 ENSG00000171495 chr5:41000303-41000303;C/G missense_variant False MROH2B@p.E884Q 1 0.134328358 ENSG00000171495 chr5:41018714-41018714;C/G missense_variant False MROH2B@p.L1307M 1 0.32 ENSG00000171495 chr5:41004866-41004866;A/T missense_variant False MROH2B@p.L1456F 1 0.340909091 ENSG00000171495 chr5:41000334-41000334;C/G missense_variant False MROH2B@p.L1505F 1 0.206896552 ENSG00000171495 chr5:40999749-40999749;G/A missense_variant False MROH2B@p.P235L 1 0.181818182 ENSG00000171495 chr5:41058115-41058115;G/A missense_variant False MROH2B@p.Q596E 1 0.537593985 ENSG00000171495 chr5:41045796-41045796;G/C missense_variant False MROH2B@p.R1556C 1 0.262711864 ENSG00000171495 chr5:40998144-40998144;G/A missense_variant False MROH2B@p.R338T 1 0.234042553 ENSG00000171495 chr5:41055762-41055762;C/G missense_variant False MROH2B@p.S989C 1 0.25 ENSG00000171495 chr5:41015397-41015397;G/C missense_variant False MROH5@p.A1183V 1 0.441176471 ENSG00000226807 chr8:141435917-141435917;G/A missense_variant False MROH5@p.E601K 1 0.411764706 ENSG00000226807 chr8:141472918-141472918;C/T missense_variant False MROH5@p.L664F 1 0.191321499 ENSG00000226807 chr8:141471069-141471069;C/G missense_variant False MROH5@p.Q1178E 1 0.1 ENSG00000226807 chr8:141435933-141435933;G/C missense_variant False MPZL1@p.Y200F 1 0.25 ENSG00000197965 chr1:167773362-167773362;A/T missense_variant False MPZL1@p.V165I 1 0.385321101 ENSG00000197965 chr1:167773256-167773256;G/A missense_variant False MPV17L@p.D112H 1 0.181818182 ENSG00000261130 chr16:15400810-15400810;G/C missense_variant False MPG@p.K202R 1 0.066666667 ENSG00000103152 chr16:85485-85485;A/G missense_variant False MPHOSPH10@p.G19C 1 0.489361702 ENSG00000124383 chr2:71130720-71130720;G/T missense_variant False MPHOSPH10@p.E568K 1 0.266666667 ENSG00000124383 chr2:71149259-71149259;G/A missense_variant False MPHOSPH10@p.E221Q 1 0.532467532 ENSG00000124383 chr2:71133469-71133469;G/C missense_variant False MPHOSPH10@p.D235H 1 0.479674797 ENSG00000124383 chr2:71133511-71133511;G/C missense_variant False MPG@p.R261Q 1 0.333333333 ENSG00000103152 chr16:85662-85662;G/A missense_variant False MPG@p.P112S 1 0.095541401 ENSG00000103152 chr16:83070-83070;C/T missense_variant False MPEG1@p.S625C 1 0.057142857 ENSG00000197629 chr11:59210992-59210992;G/C missense_variant False MPEG1@p.A675D 1 0.534653465 ENSG00000197629 chr11:59210842-59210842;G/T missense_variant False MPEG1@p.S603N 1 0.221757322 ENSG00000197629 chr11:59211058-59211058;C/T missense_variant False MPEG1@p.S553C 1 0.302325581 ENSG00000197629 chr11:59211208-59211208;G/C missense_variant False MPEG1@p.R437Q 1 0.480769231 ENSG00000197629 chr11:59211556-59211556;C/T missense_variant False MPEG1@p.Q398H 1 0.426966292 ENSG00000197629 chr11:59211672-59211672;T/G missense_variant False MPEG1@p.P698S 1 0.068181818 ENSG00000197629 chr11:59210774-59210774;G/A missense_variant False MPEG1@p.I216F 1 0.171875 ENSG00000197629 chr11:59212220-59212220;T/A missense_variant False MPHOSPH10@p.L460I 1 0.331010453 ENSG00000124383 chr2:71141301-71141301;T/A missense_variant False MPHOSPH10@p.P108L 1 0.18 ENSG00000124383 chr2:71133131-71133131;C/T missense_variant False MPHOSPH10@p.S156N 1 0.421383648 ENSG00000124383 chr2:71133275-71133275;G/A missense_variant False MPHOSPH6@p.E35K 1 0.269662921 ENSG00000135698 chr16:82164143-82164143;C/T missense_variant False MPHOSPH6@p.K153N 1 0.176470588 ENSG00000135698 chr16:82148755-82148755;C/G missense_variant False MPHOSPH8@p.E143Q 1 0.139534884 ENSG00000196199 chr13:19646500-19646500;G/C missense_variant False MPHOSPH8@p.E348Q 1 0.086206897 ENSG00000196199 chr13:19647115-19647115;G/C missense_variant False MPHOSPH8@p.E456K 1 0.355555556 ENSG00000196199 chr13:19650050-19650050;G/A missense_variant False MPHOSPH8@p.E470K 1 0.285714286 ENSG00000196199 chr13:19650092-19650092;G/A missense_variant False MPHOSPH8@p.K632N 1 0.144230769 ENSG00000196199 chr13:19661802-19661802;G/C missense_variant False MPHOSPH8@p.R202T 1 0.235294118 ENSG00000196199 chr13:19646678-19646678;G/C missense_variant False MPHOSPH8@p.R236T 1 0.159090909 ENSG00000196199 chr13:19646780-19646780;G/C missense_variant False MPHOSPH8@p.R327T 1 0.127659574 ENSG00000196199 chr13:19647053-19647053;G/C missense_variant False MPHOSPH8@p.R412T 1 0.333333333 ENSG00000196199 chr13:19648438-19648438;G/C missense_variant False MPHOSPH8@p.R755G 1 0.204081633 ENSG00000196199 chr13:19668465-19668465;C/G missense_variant False MPHOSPH8@p.V518M 1 0.625 ENSG00000196199 chr13:19650236-19650236;G/A missense_variant False MPHOSPH9@p.D1017N 1 0.4 ENSG00000051825 chr12:123162199-123162199;C/T missense_variant False MPEG1@p.E183Q 1 0.277372263 ENSG00000197629 chr11:59212319-59212319;C/G missense_variant False MPDZ@p.T1968S 1 0.342857143 ENSG00000107186 chr9:13109991-13109991;G/C missense_variant False MPHOSPH9@p.D892H 1 0.288 ENSG00000051825 chr12:123165395-123165395;C/G missense_variant False MOV10@p.A229T 1 0.153846154 ENSG00000155363 chr1:112689947-112689947;G/A missense_variant False MOV10@p.R8G 1 0.213114754 ENSG00000155363 chr1:112674934-112674934;C/G missense_variant False MOV10@p.R882Q 1 0.238095238 ENSG00000155363 chr1:112699746-112699746;G/A missense_variant False MOV10@p.R24W 1 0.176470588 ENSG00000155363 chr1:112674982-112674982;C/T missense_variant False MOV10@p.L860F 1 0.224215247 ENSG00000155363 chr1:112698786-112698786;G/C missense_variant False MOV10@p.K858E 1 0.317241379 ENSG00000155363 chr1:112698778-112698778;A/G missense_variant False MOV10@p.E404Q 1 0.096774194 ENSG00000155363 chr1:112694087-112694087;G/C missense_variant False MOSPD2@p.T251A 1 0.311111111 ENSG00000130150 chrX:14911285-14911285;A/G missense_variant False MPDZ@p.S1476N 1 0.111111111 ENSG00000107186 chr9:13133861-13133861;C/T missense_variant False MOSPD2@p.I492F 1 0.941176471 ENSG00000130150 chrX:14919726-14919726;A/T missense_variant False MOSPD2@p.F513L 1 0.67961165 ENSG00000130150 chrX:14919791-14919791;C/G missense_variant False MOSPD2@p.E38K 1 0.898550725 ENSG00000130150 chrX:14892755-14892755;G/A missense_variant False MOSPD2@p.E334A 1 0.944444444 ENSG00000130150 chrX:14914511-14914511;A/C missense_variant False MOS@p.N206K 1 0.352941176 ENSG00000172680 chr8:56113365-56113365;G/T missense_variant False MOS@p.A301T 1 0.307692308 ENSG00000172680 chr8:56113082-56113082;C/T missense_variant False MOV10L1@p.L404Afs*15 1 0.381818182 ENSG00000073146 chr22:50115190-50115191;-/G frameshift_variant False MOV10L1@p.P1037R 1 0.46875 ENSG00000073146 chr22:50158100-50158100;C/G missense_variant False MOV10L1@p.R795Q 1 0.417525773 ENSG00000073146 chr22:50144122-50144122;G/A missense_variant False MOV10L1@p.S579F 1 0.230769231 ENSG00000073146 chr22:50125558-50125558;C/T missense_variant False MOXD1@p.G405W 1 0.4 ENSG00000079931 chr6:132322771-132322771;C/A missense_variant False MOXD1@p.L373V 1 0.352941176 ENSG00000079931 chr6:132322867-132322867;G/C missense_variant False MPDZ@p.D1272N 1 0.613793103 ENSG00000107186 chr9:13143492-13143492;C/T missense_variant False MPDZ@p.D1746N 1 0.136986301 ENSG00000107186 chr9:13119645-13119645;C/T missense_variant False MPDZ@p.D31H 1 0.318627451 ENSG00000107186 chr9:13247727-13247727;C/G missense_variant False MPDZ@p.E169Q 1 0.089285714 ENSG00000107186 chr9:13223599-13223599;C/G missense_variant False MPDZ@p.E2027K 1 0.185185185 ENSG00000107186 chr9:13107099-13107099;C/T missense_variant False MPDZ@p.G1384A 1 0.142857143 ENSG00000107186 chr9:13138006-13138006;C/G missense_variant False MPDZ@p.G288A 1 0.565217391 ENSG00000107186 chr9:13221385-13221385;C/G missense_variant False MPDZ@p.L1685F 1 0.578947368 ENSG00000107186 chr9:13121915-13121915;C/G missense_variant False MPDZ@p.M1031I 1 0.795774648 ENSG00000107186 chr9:13168527-13168527;C/T missense_variant False MPDZ@p.R1698T 1 0.8 ENSG00000107186 chr9:13121877-13121877;C/G missense_variant False MPDZ@p.R335T 1 0.133333333 ENSG00000107186 chr9:13219641-13219641;C/G missense_variant False MPHOSPH9@p.D609H 1 0.206896552 ENSG00000051825 chr12:123202276-123202276;C/G missense_variant False MPHOSPH9@p.E1124Q 1 0.314814815 ENSG00000051825 chr12:123161147-123161147;C/G missense_variant False MPV17L2@p.R167P 1 0.228571429 ENSG00000254858 chr19:18195022-18195022;G/C missense_variant False MPP6@p.E148Q 1 0.396226415 ENSG00000105926 chr7:24650503-24650503;G/C missense_variant False MPP6@p.I524R 1 0.237762238 ENSG00000105926 chr7:24687562-24687562;T/G missense_variant False MPP6@p.E79K 1 0.382352941 ENSG00000105926 chr7:24641833-24641833;G/A missense_variant False MPP6@p.E50Q 1 0.205882353 ENSG00000105926 chr7:24641746-24641746;G/C missense_variant False MPP6@p.E462Q 1 0.13253012 ENSG00000105926 chr7:24680458-24680458;G/C missense_variant False MPP6@p.E30Q 1 0.163265306 ENSG00000105926 chr7:24623755-24623755;G/C missense_variant False MPP6@p.E281Q 1 0.161290323 ENSG00000105926 chr7:24665645-24665645;G/C missense_variant False MPP5@p.S372F 1 0.17 None chr14:67312600-67312600;C/T missense_variant False MPP3@p.E349D 1 0.835616438 ENSG00000161647 chr17:43814324-43814324;C/G missense_variant False MPP5@p.R519Q 1 0.362068966 None chr14:67321075-67321075;G/A missense_variant False MPP5@p.R258H 1 0.277777778 None chr14:67302090-67302090;G/A missense_variant False MPP5@p.E300K 1 0.231707317 None chr14:67302506-67302506;G/A missense_variant False MPP5@p.E240D 1 0.244444444 None chr14:67302037-67302037;G/C missense_variant False MPP5@p.D225N 1 0.3 None chr14:67301990-67301990;G/A missense_variant False MPP3@p.H577Y 1 0.105990783 ENSG00000161647 chr17:43801730-43801730;G/A missense_variant False MPP6@p.L241F 1 0.242424242 ENSG00000105926 chr7:24663661-24663661;G/C missense_variant False MPP6@p.L80W 1 0.093167702 ENSG00000105926 chr7:24641837-24641837;T/G missense_variant False MPP6@p.R210T 1 0.422222222 ENSG00000105926 chr7:24650690-24650690;G/C missense_variant False MPP7@p.D330H 1 0.145985401 ENSG00000150054 chr10:28089806-28089806;C/G missense_variant False MPP7@p.I233M 1 0.444444444 ENSG00000150054 chr10:28120382-28120382;G/C missense_variant False MPP7@p.L21V 1 0.26 ENSG00000150054 chr10:28202248-28202248;G/C missense_variant False MPP7@p.S490L 1 0.091954023 ENSG00000150054 chr10:28056562-28056562;G/A missense_variant False MPP7@p.S5L 1 0.25 ENSG00000150054 chr10:28238591-28238591;G/A missense_variant False MPPE1@p.H14Y 1 0.126984127 ENSG00000154889 chr18:11897225-11897225;G/A missense_variant False MPPE1@p.K125N 1 0.444444444 ENSG00000154889 chr18:11893483-11893483;C/A missense_variant False MPPED2@p.E125K 1 0.421052632 ENSG00000066382 chr11:30495459-30495459;C/T missense_variant False MPPED2@p.I73M 1 0.380952381 ENSG00000066382 chr11:30536085-30536085;G/C missense_variant False MPPED2@p.Q8E 1 0.891891892 ENSG00000066382 chr11:30580352-30580352;G/C missense_variant False MPRIP@p.E788D 1 0.459459459 ENSG00000133030 chr17:17172750-17172750;G/T missense_variant False MPRIP@p.I920V 1 0.25 ENSG00000133030 chr17:17176474-17176474;A/G missense_variant False MPRIP@p.M989I 1 0.571428571 ENSG00000133030 chr17:17180010-17180010;G/A missense_variant False MPV17L2@p.E138D 1 0.294117647 ENSG00000254858 chr19:18194832-18194832;G/T missense_variant False MPP3@p.E570Q 1 0.320261438 ENSG00000161647 chr17:43801751-43801751;C/G missense_variant False MPP2@p.V385M 1 0.14893617 ENSG00000108852 chr17:43880760-43880760;C/T missense_variant False MPHOSPH9@p.E1158Q 1 0.487804878 ENSG00000051825 chr12:123156887-123156887;C/G missense_variant False MPHOSPH9@p.V224F 1 0.428571429 ENSG00000051825 chr12:123221574-123221574;C/A missense_variant False MPIG6B@p.H112N 1 0.475308642 ENSG00000204420 chr6:31723911-31723911;C/A missense_variant False MPI@p.S405L 1 0.074074074 ENSG00000178802 chr15:74897672-74897672;C/T missense_variant False MPI@p.S336L 1 0.248484848 ENSG00000178802 chr15:74897173-74897173;C/T missense_variant False MPI@p.S102L 1 0.301204819 ENSG00000178802 chr15:74891539-74891539;C/T missense_variant False MPI@p.G83D 1 0.204081633 ENSG00000178802 chr15:74891482-74891482;G/A missense_variant False MPI@p.D35N 1 0.325396825 ENSG00000178802 chr15:74890613-74890613;G/A missense_variant False MPHOSPH9@p.S165F 1 0.053763441 ENSG00000051825 chr12:123221750-123221750;G/A missense_variant False MPP2@p.T453I 1 0.314049587 ENSG00000108852 chr17:43879849-43879849;G/A missense_variant False MPHOSPH9@p.R471I 1 0.227272727 ENSG00000051825 chr12:123202993-123202993;C/A missense_variant False MPHOSPH9@p.E758Q 1 0.102564103 ENSG00000051825 chr12:123181180-123181180;C/G missense_variant False MPHOSPH9@p.E371K 1 0.166666667 ENSG00000051825 chr12:123210139-123210139;C/T missense_variant False MPHOSPH9@p.E246Q 1 0.636363636 ENSG00000051825 chr12:123221508-123221508;C/G missense_variant False MPHOSPH9@p.E171K 1 0.115942029 ENSG00000051825 chr12:123221733-123221733;C/T missense_variant False MPHOSPH9@p.E1163K 1 0.169811321 ENSG00000051825 chr12:123156872-123156872;C/T missense_variant False MPL@p.E56Q 1 0.26 ENSG00000117400 chr1:43338185-43338185;G/C missense_variant True MPL@p.G88A 1 0.38028169 ENSG00000117400 chr1:43338592-43338592;G/C missense_variant True MPL@p.L498V 1 0.124567474 ENSG00000117400 chr1:43349286-43349286;C/G missense_variant True MPL@p.P106L 1 0.494382022 ENSG00000117400 chr1:43338646-43338646;C/T missense_variant True MPLKIP@p.E146Q 1 0.415841584 ENSG00000168303 chr7:40133163-40133163;C/G missense_variant False MPLKIP@p.R131T 1 0.320754717 ENSG00000168303 chr7:40133207-40133207;C/G missense_variant False MPND@p.D109H 1 0.189189189 ENSG00000008382 chr19:4345775-4345775;G/C missense_variant False MPND@p.D156N 1 0.317073171 ENSG00000008382 chr19:4345916-4345916;G/A missense_variant False MPND@p.G144A 1 0.089108911 ENSG00000008382 chr19:4345881-4345881;G/C missense_variant False MPND@p.K401N 1 0.272727273 ENSG00000008382 chr19:4357552-4357552;G/C missense_variant False MPND@p.P404R 1 0.282051282 ENSG00000008382 chr19:4357560-4357560;C/G missense_variant False MPND@p.S422F 1 0.147727273 ENSG00000008382 chr19:4359191-4359191;C/T missense_variant False MPO@p.D582H 1 0.053846154 ENSG00000005381 chr17:58272796-58272796;C/G missense_variant False MPO@p.L40V 1 0.216216216 ENSG00000005381 chr17:58280641-58280641;G/C missense_variant False MPP2@p.D290Y 1 0.34057971 ENSG00000108852 chr17:43881475-43881475;C/A missense_variant False MPP2@p.H257Y 1 0.323809524 ENSG00000108852 chr17:43881574-43881574;G/A missense_variant False MPP2@p.N91K 1 0.3125 ENSG00000108852 chr17:43883305-43883305;G/T missense_variant False MRPL20@p.E126K 1 0.222929936 ENSG00000242485 chr1:1402157-1402157;C/T missense_variant False MRPL22@p.G59A 1 0.273584906 ENSG00000082515 chr5:154950919-154950919;G/C missense_variant False MYO5A@p.E71K 1 0.304347826 ENSG00000197535 chr15:52428497-52428497;C/T missense_variant False MSH4@p.S400C 1 0.330188679 ENSG00000057468 chr1:75848245-75848245;C/G missense_variant False MSH6@p.D880Y 1 0.155844156 ENSG00000116062 chr2:47800621-47800621;G/T missense_variant True MSH5@p.T572N 1 0.319548872 ENSG00000204410 chr6:31760119-31760119;C/A missense_variant False MSH5@p.S149F 1 0.313291139 ENSG00000204410 chr6:31743934-31743934;C/T missense_variant False MSH5@p.R392H 1 0.188405797 ENSG00000204410 chr6:31758579-31758579;G/A missense_variant False MSH5@p.H279Y 1 0.566037736 ENSG00000204410 chr6:31753323-31753323;C/T missense_variant False MSH4@p.T395R 1 0.396551724 ENSG00000057468 chr1:75848230-75848230;C/G missense_variant False MSH4@p.R535G 1 0.108108108 ENSG00000057468 chr1:75879054-75879054;C/G missense_variant False MSH6@p.E810K 1 0.368421053 ENSG00000116062 chr2:47800411-47800411;G/A missense_variant True MSH4@p.Q377E 1 0.184782609 ENSG00000057468 chr1:75822548-75822548;C/G missense_variant False MSH4@p.F245L 1 0.196078431 ENSG00000057468 chr1:75815056-75815056;C/A missense_variant False MSH4@p.E769K 1 0.368421053 ENSG00000057468 chr1:75890774-75890774;G/A missense_variant False MSH4@p.E247K 1 0.350515464 ENSG00000057468 chr1:75815060-75815060;G/A missense_variant False MSH4@p.A892S 1 0.275862069 ENSG00000057468 chr1:75912750-75912750;G/T missense_variant False MSH4@p.A627D 1 0.113821138 ENSG00000057468 chr1:75881344-75881344;C/A missense_variant False MSH6@p.E487K 1 0.276595745 ENSG00000116062 chr2:47799442-47799442;G/A missense_variant True MSH6@p.F1088Lfs*5 1 0.347826087 ENSG00000116062 chr2:47803500-47803501;-/C frameshift_variant True MRPL24@p.E158K 1 0.40776699 ENSG00000143314 chr1:156737688-156737688;C/T missense_variant False MSL1@p.E514K 1 0.357142857 ENSG00000188895 chr17:40133093-40133093;G/A missense_variant False MSL2@p.Y87C 1 0.290748899 ENSG00000174579 chr3:136152621-136152621;T/C missense_variant False MSL2@p.T249A 1 0.116666667 ENSG00000174579 chr3:136152136-136152136;T/C missense_variant False MSL2@p.L9F 1 0.323353293 ENSG00000174579 chr3:136195089-136195089;G/A missense_variant False MSL2@p.E30K 1 0.375912409 ENSG00000174579 chr3:136195026-136195026;C/T missense_variant False MSL1@p.S362F 1 0.488 ENSG00000188895 chr17:40129337-40129337;C/T missense_variant False MSL1@p.Q528Pfs*34 1 0.875 ENSG00000188895 chr17:40133560-40133570;AAAGAATTTTA/C frameshift_variant False MSI2@p.Y205H 1 0.267515924 ENSG00000153944 chr17:57616045-57616045;T/C missense_variant False MSH6@p.F689L 1 0.238297872 ENSG00000116062 chr2:47800050-47800050;C/G missense_variant True MSI2@p.R99C 1 0.356643357 ENSG00000153944 chr17:57262175-57262175;C/T missense_variant False MSI2@p.G250E 1 0.395061728 ENSG00000153944 chr17:57652120-57652120;G/A missense_variant False MSI2@p.G215R 1 0.388059701 ENSG00000153944 chr17:57616075-57616075;G/C missense_variant False MSH6@p.T363del 1 0.139534884 ENSG00000116062 chr2:47799068-47799070;CTA/- inframe_deletion True MSH6@p.T1355A 1 0.359375 ENSG00000116062 chr2:47806840-47806840;A/G missense_variant True MSH6@p.H826N 1 0.647058824 ENSG00000116062 chr2:47800459-47800459;C/A missense_variant True MSH3@p.Q487E 1 0.22972973 ENSG00000113318 chr5:80728856-80728856;C/G missense_variant False MSH3@p.L640F 1 0.243902439 ENSG00000113318 chr5:80767956-80767956;G/C missense_variant False MSH3@p.E995Q 1 0.258823529 ENSG00000113318 chr5:80854299-80854299;G/C missense_variant False MS4A7@p.H227Y 1 0.211764706 ENSG00000166927 chr11:60393817-60393817;C/T missense_variant False MSANTD3@p.E153D 1 0.463414634 ENSG00000066697 chr9:100450597-100450597;G/T missense_variant False MSANTD2@p.E123K 1 0.4375 ENSG00000120458 chr11:124800014-124800014;C/T missense_variant False MSANTD1@p.S115T 1 0.169811321 ENSG00000188981 chr4:3253230-3253230;G/C missense_variant False MS4A8@p.Q213K 1 0.446808511 ENSG00000166959 chr11:60715123-60715123;C/A missense_variant False MS4A8@p.P41L 1 0.118811881 ENSG00000166959 chr11:60700982-60700982;C/T missense_variant False MS4A8@p.E126K 1 0.533333333 ENSG00000166959 chr11:60707021-60707021;G/A missense_variant False MS4A6E@p.R112K 1 0.382978723 ENSG00000166926 chr11:60337928-60337928;G/A missense_variant False MSH2@p.V606F 1 0.867924528 ENSG00000095002 chr2:47475081-47475081;G/T missense_variant True MS4A5@p.Q36E 1 0.140127389 ENSG00000166930 chr11:60429780-60429780;C/G missense_variant False MS4A5@p.I146V 1 0.188405797 ENSG00000166930 chr11:60433861-60433861;A/G missense_variant False MS4A3@p.Q44H 1 0.290322581 ENSG00000149516 chr11:60061292-60061292;G/C missense_variant False MS4A3@p.E5K 1 0.209677419 ENSG00000149516 chr11:60061173-60061173;G/A missense_variant False MS4A3@p.D7H 1 0.260273973 ENSG00000149516 chr11:60061179-60061179;G/C missense_variant False MS4A2@p.T68A 1 0.054545455 ENSG00000149534 chr11:60090351-60090351;A/G missense_variant False MSANTD3@p.S171L 1 0.317460317 ENSG00000066697 chr9:100450650-100450650;C/T missense_variant False MSANTD3@p.S173L 1 0.060606061 ENSG00000066697 chr9:100450656-100450656;C/T missense_variant False MSANTD4@p.E229K 1 0.162162162 ENSG00000170903 chr11:106009888-106009888;C/T missense_variant False MSANTD4@p.E253Q 1 0.471428571 ENSG00000170903 chr11:106009816-106009816;C/G missense_variant False MSANTD4@p.I168M 1 0.359223301 ENSG00000170903 chr11:106010069-106010069;T/C missense_variant False MSC@p.A112S 1 0.305555556 ENSG00000178860 chr8:71843845-71843845;C/A missense_variant False MSC@p.D140N 1 0.245901639 ENSG00000178860 chr8:71843761-71843761;C/T missense_variant False MSGN1@p.D28E 1 0.333333333 ENSG00000151379 chr2:17816602-17816602;C/G missense_variant False MSGN1@p.R184H 1 0.227272727 ENSG00000151379 chr2:17817069-17817069;G/A missense_variant False MSGN1@p.S156N 1 0.30952381 ENSG00000151379 chr2:17816985-17816985;G/A missense_variant False MSH2@p.D543N 1 0.222222222 ENSG00000095002 chr2:47466774-47466774;G/A missense_variant True MSH2@p.E731Q 1 0.6 ENSG00000095002 chr2:47476552-47476552;G/C missense_variant True MSH2@p.I274M 1 0.203125 ENSG00000095002 chr2:47414298-47414298;C/G missense_variant True MSH2@p.L458S 1 0.442307692 ENSG00000095002 chr2:47445644-47445644;T/C missense_variant True MSH2@p.M453I 1 0.260869565 ENSG00000095002 chr2:47445630-47445630;G/A missense_variant True MSH2@p.R106T 1 0.127272727 ENSG00000095002 chr2:47408506-47408506;G/C missense_variant True MSH2@p.S585F 1 0.105263158 ENSG00000095002 chr2:47471057-47471057;C/T missense_variant True MSL3@p.A415V 1 0.271604938 ENSG00000005302 chrX:11768645-11768645;C/T missense_variant False MSL3@p.L180V 1 0.8125 ENSG00000005302 chrX:11762202-11762202;C/G missense_variant False MSL3@p.P332A 1 0.053191489 ENSG00000005302 chrX:11765552-11765552;C/G missense_variant False MST1R@p.R582T 1 0.466666667 ENSG00000164078 chr3:49898186-49898186;C/G missense_variant False MSTN@p.R263K 1 0.182608696 ENSG00000138379 chr2:190057598-190057598;C/T missense_variant False MSTN@p.R190Q 1 0.153594771 ENSG00000138379 chr2:190060240-190060240;C/T missense_variant False MSTN@p.E124Q 1 0.161993769 ENSG00000138379 chr2:190062227-190062227;C/G missense_variant False MSTN@p.C374R 1 0.489361702 ENSG00000138379 chr2:190057266-190057266;A/G missense_variant False MST1R@p.T1261I 1 0.951219512 ENSG00000164078 chr3:49890513-49890513;G/A missense_variant False MST1R@p.S1315F 1 0.138888889 ENSG00000164078 chr3:49889927-49889927;G/A missense_variant False MST1R@p.P6L 1 0.316666667 ENSG00000164078 chr3:49903593-49903593;G/A missense_variant False MST1R@p.D1295H 1 0.308219178 ENSG00000164078 chr3:49889988-49889988;C/G missense_variant False MST1R@p.L999M 1 0.336956522 ENSG00000164078 chr3:49895516-49895516;G/T missense_variant False MST1R@p.I74V 1 0.106382979 ENSG00000164078 chr3:49903390-49903390;T/C missense_variant False MST1R@p.I1113M 1 0.519125683 ENSG00000164078 chr3:49891771-49891771;G/C missense_variant False MST1R@p.G110E 1 0.235294118 ENSG00000164078 chr3:49903281-49903281;C/T missense_variant False MST1R@p.E876K 1 0.810344828 ENSG00000164078 chr3:49896218-49896218;C/T missense_variant False MST1R@p.D951Y 1 0.823529412 ENSG00000164078 chr3:49895826-49895826;C/A missense_variant False MSTN@p.R88W 1 0.133333333 ENSG00000138379 chr2:190062335-190062335;G/A missense_variant False MSTN@p.W44C 1 0.128472222 ENSG00000138379 chr2:190062465-190062465;C/A missense_variant False MSTO1@p.E247Q 1 0.108433735 ENSG00000125459 chr1:155612242-155612242;G/C missense_variant False MSTO1@p.E405K 1 0.18018018 ENSG00000125459 chr1:155613163-155613163;G/A missense_variant False MSTO1@p.S301F 1 0.221153846 ENSG00000125459 chr1:155612506-155612506;C/T missense_variant False MSX1@p.K239N 1 0.235294118 ENSG00000163132 chr4:4862948-4862948;G/C missense_variant False MSX2@p.P258L 1 0.29787234 ENSG00000120149 chr5:174729552-174729552;C/T missense_variant False MT1A@p.A8T 1 0.39375 ENSG00000205362 chr16:56638760-56638760;G/A missense_variant False MT4@p.G17R 1 0.35443038 ENSG00000102891 chr16:56567768-56567768;G/A missense_variant False MTA1@p.E292Q 1 0.27027027 ENSG00000182979 chr14:105460885-105460885;G/C missense_variant False MTA1@p.K678N 1 0.3 ENSG00000182979 chr14:105470101-105470101;G/C missense_variant False MTA1@p.R445L 1 0.396825397 ENSG00000182979 chr14:105464557-105464557;G/T missense_variant False MTA1@p.T564M 1 0.4375 ENSG00000182979 chr14:105466492-105466492;C/T missense_variant False MTA2@p.D328H 1 0.470588235 ENSG00000149480 chr11:62596313-62596313;C/G missense_variant False MTA2@p.E146D 1 0.141304348 ENSG00000149480 chr11:62598076-62598076;C/G missense_variant False MTA2@p.E264K 1 0.330396476 ENSG00000149480 chr11:62596729-62596729;C/T missense_variant False MTA2@p.L207V 1 0.191489362 ENSG00000149480 chr11:62597390-62597390;G/C missense_variant False MST1R@p.D271N 1 0.362068966 ENSG00000164078 chr3:49902799-49902799;C/T missense_variant False MST1R@p.D1027N 1 0.128712871 ENSG00000164078 chr3:49895359-49895359;C/T missense_variant False MSL3@p.R262K 1 0.858974359 ENSG00000005302 chrX:11763815-11763815;G/A missense_variant False MSLNL@p.E410Q 1 0.375 ENSG00000162006 chr16:772904-772904;C/G missense_variant False MSMP@p.Q43E 1 0.640854473 ENSG00000215183 chr9:35754003-35754003;G/C missense_variant False MSMO1@p.Q84E 1 0.4 ENSG00000052802 chr4:165333620-165333620;C/G missense_variant False MSMO1@p.Q277K 1 0.470588235 ENSG00000052802 chr4:165341893-165341893;C/A missense_variant False MSMO1@p.N104I 1 0.314285714 ENSG00000052802 chr4:165337844-165337844;A/T missense_variant False MSLNL@p.P230S 1 0.692307692 ENSG00000162006 chr16:774500-774500;G/A missense_variant False MSLNL@p.L38F 1 0.4 ENSG00000162006 chr16:780088-780088;G/A missense_variant False MSLNL@p.A311T 1 0.153153153 ENSG00000162006 chr16:773284-773284;C/T missense_variant False MST1R@p.A889T 1 0.197115385 ENSG00000164078 chr3:49896092-49896092;C/T missense_variant False MSLNL@p.A211V 1 0.176470588 ENSG00000162006 chr16:774887-774887;G/A missense_variant False MSLN@p.R107Q 1 0.291304348 ENSG00000102854 chr16:764666-764666;G/A missense_variant False MSLN@p.P56A 1 0.535714286 ENSG00000102854 chr16:763678-763678;C/G missense_variant False MSLN@p.P412A 1 0.12295082 ENSG00000102854 chr16:766647-766647;C/G missense_variant False MSLN@p.G613A 1 0.230769231 ENSG00000102854 chr16:768678-768678;G/C missense_variant False MSL3@p.R353H 1 0.377192982 ENSG00000005302 chrX:11765616-11765616;G/A missense_variant False MSMP@p.R61H 1 0.173913043 ENSG00000215183 chr9:35753717-35753717;C/T missense_variant False MSN@p.D69N 1 0.372727273 ENSG00000147065 chrX:65729450-65729450;G/A missense_variant False MSR1@p.M108I 1 0.309090909 ENSG00000038945 chr8:16168764-16168764;C/T missense_variant False MSR1@p.R266K 1 0.166666667 ENSG00000038945 chr8:16164085-16164085;C/T missense_variant False MSR1@p.S262A 1 0.514285714 ENSG00000038945 chr8:16164098-16164098;A/C missense_variant False MSR1@p.S368R 1 0.833333333 ENSG00000038945 chr8:16120536-16120536;G/T missense_variant False MSRA@p.H141Tfs*33 1 0.244444444 ENSG00000175806 chr8:10301623-10301623;C/- frameshift_variant False MSRA@p.L14F 1 0.157894737 ENSG00000175806 chr8:10054556-10054556;C/T missense_variant False MSRB2@p.D123H 1 0.089285714 ENSG00000148450 chr10:23119374-23119374;G/C missense_variant False MSRB2@p.H89D 1 0.875 ENSG00000148450 chr10:23110287-23110287;C/G missense_variant False MSRB3@p.G178D 1 0.170731707 ENSG00000174099 chr12:65463276-65463276;G/A missense_variant False MSS51@p.E341K 1 0.166666667 ENSG00000166343 chr10:73425859-73425859;C/T missense_variant False MST1@p.E623K 1 0.296610169 ENSG00000173531 chr3:49684559-49684559;C/T missense_variant False MST1@p.N164K 1 0.4 ENSG00000173531 chr3:49687264-49687264;A/T missense_variant False MST1@p.Q193H 1 0.365217391 ENSG00000173531 chr3:49687177-49687177;C/G missense_variant False MST1@p.R342W 1 0.552631579 ENSG00000173531 chr3:49686185-49686185;G/A missense_variant False MST1@p.R535Gfs*37 1 0.1875 ENSG00000173531 chr3:49685031-49685031;G/- frameshift_variant False MS4A2@p.L131P 1 0.058823529 ENSG00000149534 chr11:60093413-60093413;T/C missense_variant False MS4A2@p.L11F 1 0.303030303 ENSG00000149534 chr11:60088796-60088796;C/T missense_variant False MS4A2@p.G194Vfs*29 1 0.162790698 ENSG00000149534 chr11:60094003-60094003;C/- frameshift_variant False MRPL55@p.R120Q 1 0.11965812 ENSG00000162910 chr1:228106788-228106788;C/T missense_variant False MRPL58@p.M157I 1 0.245614035 ENSG00000167862 chr17:75020592-75020592;G/A missense_variant False MRPL58@p.I134M 1 0.135135135 ENSG00000167862 chr17:75020523-75020523;C/G missense_variant False MRPL58@p.E160K 1 0.323529412 ENSG00000167862 chr17:75020599-75020599;G/A missense_variant False MRPL57@p.G14C 1 0.186046512 ENSG00000173141 chr13:21176956-21176956;G/T missense_variant False MRPL57@p.E72Q 1 0.24137931 ENSG00000173141 chr13:21177130-21177130;G/C missense_variant False MRPL55@p.R24H 1 0.306451613 ENSG00000162910 chr1:228107825-228107825;C/T missense_variant False MRPL53@p.V27L 1 0.144230769 ENSG00000204822 chr2:74472582-74472582;C/G missense_variant False MRPL44@p.R312W 1 0.549019608 ENSG00000135900 chr2:223966969-223966969;C/T missense_variant False MRPL53@p.R17W 1 0.226415094 ENSG00000204822 chr2:74472612-74472612;G/A missense_variant False MRPL50@p.R56G 1 0.266666667 ENSG00000136897 chr9:101390777-101390777;G/C missense_variant False MRPL50@p.E76K 1 0.11627907 ENSG00000136897 chr9:101390717-101390717;C/T missense_variant False MRPL49@p.D126Y 1 0.260273973 ENSG00000149792 chr11:65125747-65125747;G/T missense_variant False MRPL47@p.A7T 1 0.352941176 ENSG00000136522 chr3:179604606-179604606;C/T missense_variant False MRPL45@p.Q205E 1 0.435344828 ENSG00000278845 chr17:38320720-38320720;C/G missense_variant False MRPL9@p.F193L 1 0.46875 ENSG00000143436 chr1:151761460-151761460;G/T missense_variant False MRPS10@p.L79F 1 0.371794872 ENSG00000048544 chr6:42211867-42211867;C/G missense_variant False MRPS14@p.M93I 1 0.204472843 ENSG00000120333 chr1:175014777-175014777;C/T missense_variant False MRPS14@p.R102Q 1 0.333333333 ENSG00000120333 chr1:175014751-175014751;C/T missense_variant False MRPS15@p.D65N 1 0.438356164 ENSG00000116898 chr1:36462146-36462146;C/T missense_variant False MRPS17@p.G89E 1 0.140740741 ENSG00000239789 chr7:55955051-55955051;G/A missense_variant False MRPS17@p.P94S 1 0.234375 ENSG00000239789 chr7:55955065-55955065;C/T missense_variant False MRPS18A@p.E137K 1 0.707865169 ENSG00000096080 chr6:43675239-43675239;C/T missense_variant False MRPS18B@p.E60K 1 0.192307692 ENSG00000204568 chr6:30619592-30619592;G/A missense_variant False MRPS18B@p.F135L 1 0.410714286 ENSG00000204568 chr6:30622882-30622882;C/G missense_variant False MRPS18B@p.R215H 1 0.273684211 ENSG00000204568 chr6:30625664-30625664;G/A missense_variant False MRPS18B@p.R24K 1 0.224719101 ENSG00000204568 chr6:30617936-30617936;G/A missense_variant False MRPS18C@p.D73N 1 0.157894737 ENSG00000163319 chr4:83458412-83458412;G/A missense_variant False MRPS18C@p.G9V 1 0.149606299 ENSG00000163319 chr4:83456103-83456103;G/T missense_variant False MRPS18C@p.I111N 1 0.222222222 ENSG00000163319 chr4:83461012-83461012;T/A missense_variant False MRPS22@p.E45Q 1 0.21875 ENSG00000175110 chr3:139344159-139344159;G/C missense_variant False MRPS22@p.E72K 1 0.524590164 ENSG00000175110 chr3:139346922-139346922;G/A missense_variant False MRPL45@p.M203I 1 0.489626556 ENSG00000278845 chr17:38320716-38320716;G/A missense_variant False MRPL44@p.P208H 1 0.062068966 ENSG00000135900 chr2:223959977-223959977;C/A missense_variant False MRPS22@p.R262H 1 0.328125 ENSG00000175110 chr3:139352702-139352702;G/A missense_variant False MRPL34@p.L70V 1 0.357142857 ENSG00000130312 chr19:17306308-17306308;C/G missense_variant False MRPL37@p.E115K 1 0.110091743 ENSG00000116221 chr1:54200586-54200586;G/A missense_variant False MRPL37@p.A297T 1 0.460784314 ENSG00000116221 chr1:54212557-54212557;G/A missense_variant False MRPL35@p.I16M 1 0.282051282 ENSG00000132313 chr2:86206110-86206110;C/G missense_variant False MRPL35@p.A99V 1 0.14084507 ENSG00000132313 chr2:86207245-86207245;C/T missense_variant False MRPL34@p.R81C 1 0.136363636 ENSG00000130312 chr19:17306341-17306341;C/T missense_variant False MRPL34@p.R49S 1 0.428571429 ENSG00000130312 chr19:17306245-17306245;C/A missense_variant False MRPL33@p.E23K 1 0.125827815 ENSG00000243147 chr2:27774449-27774449;G/A missense_variant False MRPL44@p.L141Qfs*8 1 0.25 ENSG00000135900 chr2:223959774-223959789;TCTTGAAGACGAGTAC/- frameshift_variant False MRPL32@p.E176K 1 0.829268293 ENSG00000106591 chr7:42937535-42937535;G/A missense_variant False MRPL32@p.E136K 1 0.552631579 ENSG00000106591 chr7:42937415-42937415;G/A missense_variant False MRPL30@p.S39L 1 0.333333333 ENSG00000185414 chr2:99188241-99188241;C/T missense_variant False MRPL30@p.R77T 1 0.241935484 ENSG00000185414 chr2:99194848-99194848;G/C missense_variant False MRPL27@p.K33N 1 0.475095785 ENSG00000108826 chr17:50370528-50370528;C/A missense_variant False MRPL24@p.L3P 1 0.256410256 ENSG00000143314 chr1:156738697-156738697;A/G missense_variant False MRPL37@p.I106M 1 0.546875 ENSG00000116221 chr1:54200561-54200561;C/G missense_variant False MRPL37@p.I270V 1 0.205607477 ENSG00000116221 chr1:54210107-54210107;A/G missense_variant False MRPL37@p.M313I 1 0.333333333 ENSG00000116221 chr1:54212607-54212607;G/A missense_variant False MRPL38@p.D302H 1 0.3 ENSG00000204316 chr17:75899260-75899260;C/G missense_variant False MRPL38@p.V345L 1 0.714285714 ENSG00000204316 chr17:75898960-75898960;C/A missense_variant False MRPL39@p.T59P 1 0.418604651 ENSG00000154719 chr21:25606554-25606554;T/G missense_variant False MRPL3@p.L145V 1 0.116883117 ENSG00000114686 chr3:131498214-131498214;G/C missense_variant False MRPL3@p.S153L 1 0.210526316 ENSG00000114686 chr3:131498189-131498189;G/A missense_variant False MRPL40@p.E112Q 1 0.103004292 ENSG00000185608 chr22:19435675-19435675;G/C missense_variant False MRPL40@p.K119N 1 0.328 ENSG00000185608 chr22:19435698-19435698;G/T missense_variant False MRPL40@p.K197N 1 0.184615385 ENSG00000185608 chr22:19435932-19435932;G/C missense_variant False MRPL40@p.L50F 1 0.103448276 ENSG00000185608 chr22:19434746-19434746;C/T missense_variant False MRPL41@p.C10Y 1 0.421052632 ENSG00000182154 chr9:137552110-137552110;G/A missense_variant False MRPL41@p.I100M 1 0.928571429 ENSG00000182154 chr9:137552381-137552381;C/G missense_variant False MRPL43@p.R146Q 1 0.229508197 ENSG00000055950 chr10:100986777-100986777;C/T missense_variant False MRPL44@p.E163K 1 0.117647059 ENSG00000135900 chr2:223959841-223959841;G/A missense_variant False MRPL44@p.G34E 1 0.125 ENSG00000135900 chr2:223957573-223957573;G/A missense_variant False MRPS22@p.L14F 1 0.431034483 ENSG00000175110 chr3:139344068-139344068;G/C missense_variant False MRPS22@p.R28G 1 0.133333333 ENSG00000175110 chr3:139344108-139344108;C/G missense_variant False MS4A1@p.S173F 1 0.269565217 ENSG00000156738 chr11:60466102-60466102;C/T missense_variant False MRTFB@p.E591Q 1 0.170212766 ENSG00000186260 chr16:14247031-14247031;G/C missense_variant False MS4A10@p.K53N 1 0.178571429 ENSG00000172689 chr11:60790494-60790494;G/C missense_variant False MRTO4@p.R126P 1 0.153333333 ENSG00000053372 chr1:19257868-19257868;G/C missense_variant False MRTO4@p.E228Q 1 0.227272727 ENSG00000053372 chr1:19258792-19258792;G/C missense_variant False MRTFB@p.R607Q 1 0.317073171 ENSG00000186260 chr16:14247080-14247080;G/A missense_variant False MRTFB@p.Q182E 1 0.109589041 ENSG00000186260 chr16:14218849-14218849;C/G missense_variant False MRTFB@p.F985L 1 0.504587156 ENSG00000186260 chr16:14261099-14261099;C/A missense_variant False MRTFB@p.D402V 1 0.391566265 ENSG00000186260 chr16:14245653-14245653;A/T missense_variant False MRS2@p.G345V 1 0.264516129 ENSG00000124532 chr6:24418505-24418505;G/T missense_variant False MRTFB@p.A820T 1 0.178571429 ENSG00000186260 chr16:14251916-14251916;G/A missense_variant False MRTFA@p.S254C 1 0.406060606 ENSG00000196588 chr22:40424222-40424222;G/C missense_variant False MRTFA@p.S213C 1 0.444444444 ENSG00000196588 chr22:40424345-40424345;G/C missense_variant False MRTFA@p.L104F 1 0.375 ENSG00000196588 chr22:40435550-40435550;C/G missense_variant False MRTFA@p.G997D 1 0.434782609 ENSG00000196588 chr22:40411496-40411496;C/T missense_variant False MRS2@p.M124I 1 0.43902439 ENSG00000124532 chr6:24409531-24409531;G/C missense_variant False MS4A10@p.P209S 1 0.227272727 ENSG00000172689 chr11:60798417-60798417;C/T missense_variant False MS4A12@p.G35C 1 0.49122807 ENSG00000071203 chr11:60497421-60497421;G/T missense_variant False MS4A12@p.L145V 1 0.068292683 ENSG00000071203 chr11:60502001-60502001;C/G missense_variant False MS4A12@p.L34M 1 0.198198198 ENSG00000071203 chr11:60497418-60497418;C/A missense_variant False MS4A13@p.H90D 1 0.285714286 ENSG00000204979 chr11:60525288-60525288;C/G missense_variant False MS4A13@p.S109L 1 0.117647059 ENSG00000204979 chr11:60529384-60529384;C/T missense_variant False MS4A14@p.E187K 1 0.369047619 ENSG00000166928 chr11:60415527-60415527;G/A missense_variant False MS4A14@p.E634D 1 0.506666667 ENSG00000166928 chr11:60416870-60416870;G/T missense_variant False MS4A14@p.H12D 1 0.288461538 ENSG00000166928 chr11:60396612-60396612;C/G missense_variant False MS4A14@p.H12Y 1 0.3 ENSG00000166928 chr11:60396612-60396612;C/T missense_variant False MS4A14@p.H343Y 1 0.120481928 ENSG00000166928 chr11:60415995-60415995;C/T missense_variant False MS4A14@p.S118C 1 0.28 ENSG00000166928 chr11:60402946-60402946;C/G missense_variant False MS4A14@p.V624I 1 0.101694915 ENSG00000166928 chr11:60416838-60416838;G/A missense_variant False MS4A1@p.A22V 1 0.48 ENSG00000156738 chr11:60462439-60462439;C/T missense_variant False MS4A1@p.G10R 1 0.291044776 ENSG00000156738 chr11:60462402-60462402;G/A missense_variant False MS4A1@p.L69F 1 0.245454545 ENSG00000156738 chr11:60463047-60463047;C/T missense_variant False MS4A1@p.N258D 1 0.233333333 ENSG00000156738 chr11:60468346-60468346;A/G missense_variant False MRS2@p.I326S 1 0.22826087 ENSG00000124532 chr6:24418224-24418224;T/G missense_variant False MRS2@p.F164L 1 0.480519481 ENSG00000124532 chr6:24412297-24412297;T/C missense_variant False MRPS22@p.S17F 1 0.134615385 ENSG00000175110 chr3:139344076-139344076;C/T missense_variant False MRPS28@p.C5Wfs*20 1 0.161290323 ENSG00000147586 chr8:80030219-80030234;CACAGCACGGGTCCGA/- frameshift_variant False MRPS30@p.R43Q 1 0.375 ENSG00000112996 chr5:44809090-44809090;G/A missense_variant False MRPS30@p.R222Q 1 0.257575758 ENSG00000112996 chr5:44811072-44811072;G/A missense_variant False MRPS30@p.N387Y 1 0.24 ENSG00000112996 chr5:44815041-44815041;A/T missense_variant False MRPS30@p.F109Y 1 0.433333333 ENSG00000112996 chr5:44809288-44809288;T/A missense_variant False MRPS28@p.G102E 1 0.260869565 ENSG00000147586 chr8:80003089-80003089;C/T missense_variant False MRPS28@p.E32K 1 0.304347826 ENSG00000147586 chr8:80030155-80030155;C/T missense_variant False MRPS27@p.P139A 1 0.112676056 ENSG00000113048 chr5:72234179-72234179;G/C missense_variant False MRS2@p.E263Q 1 0.852459016 ENSG00000124532 chr6:24416464-24416464;G/C missense_variant False MRPS27@p.E370Q 1 0.053571429 ENSG00000113048 chr5:72221046-72221046;C/G missense_variant False MRPS26@p.R193T 1 0.071428571 ENSG00000125901 chr20:3047829-3047829;G/C missense_variant False MRPS24@p.Y147F 1 0.178082192 ENSG00000062582 chr7:43866763-43866763;T/A missense_variant False MRPS24@p.T73A 1 0.436619718 ENSG00000062582 chr7:43868966-43868966;T/C missense_variant False MRPS23@p.R50P 1 0.141025641 ENSG00000181610 chr17:57849306-57849306;C/G missense_variant False MRPS22@p.T89S 1 0.419847328 ENSG00000175110 chr3:139346973-139346973;A/T missense_variant False MRPS31@p.A28V 1 0.229166667 ENSG00000102738 chr13:40771054-40771054;G/A missense_variant False MRPS31@p.E86D 1 0.271028037 ENSG00000102738 chr13:40766928-40766928;C/G missense_variant False MRPS31@p.L334V 1 0.115384615 ENSG00000102738 chr13:40729560-40729560;G/C missense_variant False MRPS31@p.S21F 1 0.153846154 ENSG00000102738 chr13:40771075-40771075;G/A missense_variant False MRPS34@p.K123N 1 0.34939759 ENSG00000074071 chr16:1772509-1772509;C/G missense_variant False MRPS34@p.P143R 1 0.231707317 ENSG00000074071 chr16:1772450-1772450;G/C missense_variant False MRPS35@p.D247H 1 0.232758621 ENSG00000061794 chr12:27755217-27755217;G/C missense_variant False MRPS35@p.R169Q 1 0.564102564 ENSG00000061794 chr12:27724170-27724170;G/A missense_variant False MRPS36@p.G58E 1 0.52173913 ENSG00000134056 chr5:69228266-69228266;G/A missense_variant False MRPS36@p.I76T 1 0.481927711 ENSG00000134056 chr5:69228320-69228320;T/C missense_variant False MRPS5@p.E216Q 1 0.138461538 ENSG00000144029 chr2:95106449-95106449;C/G missense_variant False MRPS6@p.E115K 1 0.477272727 ENSG00000243927 chr21:34142565-34142565;G/A missense_variant False MRPS6@p.R90T 1 0.111111111 ENSG00000243927 chr21:34142491-34142491;G/C missense_variant False MRPS7@p.E61K 1 0.185950413 ENSG00000125445 chr17:75262594-75262594;G/A missense_variant False MRPS7@p.R10Q 1 0.25 ENSG00000125445 chr17:75261929-75261929;G/A missense_variant False MRPS7@p.W186* 1 0.263157895 ENSG00000125445 chr17:75265750-75265753;TGGA/- frameshift_variant False MRPS9@p.T189Nfs*14 1 0.1875 ENSG00000135972 chr2:105089053-105089054;-/A frameshift_variant False MORN5@p.E11K 1 0.402061856 ENSG00000185681 chr9:122160003-122160003;G/A missense_variant False MORN3@p.R89T 1 0.23015873 ENSG00000139714 chr12:121659228-121659228;C/G missense_variant False MORN3@p.M168I 1 0.163934426 ENSG00000139714 chr12:121653219-121653219;C/T missense_variant False MISP@p.D306N 1 0.222222222 ENSG00000099812 chr19:757862-757862;G/A missense_variant False MITF@p.G265E 1 0.242718447 ENSG00000187098 chr3:69949085-69949085;G/A missense_variant False MITF@p.F84C 1 0.221238938 ENSG00000187098 chr3:69879283-69879283;T/G missense_variant False MITF@p.E199K 1 0.409090909 ENSG00000187098 chr3:69939113-69939113;G/A missense_variant False MITD1@p.R126T 1 0.263157895 ENSG00000158411 chr2:99171523-99171523;C/G missense_variant False MISP@p.S281L 1 0.617021277 ENSG00000099812 chr19:757788-757788;C/T missense_variant False MISP@p.I672M 1 0.294117647 ENSG00000099812 chr19:763566-763566;C/G missense_variant False MIS18BP1@p.S392G 1 0.235294118 ENSG00000129534 chr14:45237691-45237691;T/C missense_variant False MITF@p.H432D 1 0.279411765 ENSG00000187098 chr3:69964982-69964982;C/G missense_variant False MIS18BP1@p.S314L 1 0.226804124 ENSG00000129534 chr14:45242236-45242236;G/A missense_variant False MIS18BP1@p.R717H 1 0.136363636 ENSG00000129534 chr14:45224437-45224437;C/T missense_variant False MIS18BP1@p.L55F 1 0.188679245 ENSG00000129534 chr14:45247122-45247122;C/G missense_variant False MIS18BP1@p.L116I 1 0.391304348 ENSG00000129534 chr14:45246941-45246941;G/T missense_variant False MIS18BP1@p.K646N 1 0.104477612 ENSG00000129534 chr14:45224649-45224649;C/G missense_variant False MIS18BP1@p.I1076M 1 0.642857143 ENSG00000129534 chr14:45206095-45206095;G/C missense_variant False MITF@p.G487D 1 0.5625 ENSG00000187098 chr3:69965148-69965148;G/A missense_variant False MITF@p.L260F 1 0.423076923 ENSG00000187098 chr3:69949071-69949071;G/C missense_variant False MORN1@p.L331F 1 0.380952381 ENSG00000116151 chr1:2357475-2357475;C/G missense_variant False MKI67@p.D407H 1 0.3 ENSG00000148773 chr10:128115189-128115189;C/G missense_variant False MKI67@p.E1279Q 1 0.306603774 ENSG00000148773 chr10:128108005-128108005;C/G missense_variant False MKI67@p.E1094Q 1 0.274285714 ENSG00000148773 chr10:128108560-128108560;C/G missense_variant False MKI67@p.E1057K 1 0.139959432 ENSG00000148773 chr10:128108671-128108671;C/T missense_variant False MKI67@p.E1057A 1 0.589576547 ENSG00000148773 chr10:128108670-128108670;T/G missense_variant False MKI67@p.D751H 1 0.184210526 ENSG00000148773 chr10:128111654-128111654;C/G missense_variant False MKI67@p.D518N 1 0.457446809 ENSG00000148773 chr10:128113531-128113531;C/T missense_variant False MKI67@p.D278H 1 0.36 ENSG00000148773 chr10:128115576-128115576;C/G missense_variant False MITF@p.Q267H 1 0.510869565 ENSG00000187098 chr3:69949092-69949092;A/T missense_variant False MKI67@p.D173H 1 0.112 ENSG00000148773 chr10:128115891-128115891;C/G missense_variant False MKI67@p.D173E 1 0.107692308 ENSG00000148773 chr10:128115889-128115889;G/C missense_variant False MKI67@p.D1669H 1 0.188679245 ENSG00000148773 chr10:128106835-128106835;C/G missense_variant False MKI67@p.A1365V 1 0.134615385 ENSG00000148773 chr10:128107746-128107746;G/A missense_variant False MIXL1@p.S227Y 1 0.185185185 ENSG00000185155 chr1:226225793-226225793;C/A missense_variant False MIXL1@p.F149L 1 0.115384615 ENSG00000185155 chr1:226225560-226225560;C/G missense_variant False MIS18BP1@p.H551L 1 0.091954023 ENSG00000129534 chr14:45227757-45227757;T/A missense_variant False MIS18BP1@p.E841K 1 0.3 ENSG00000129534 chr14:45224066-45224066;C/T missense_variant False MIS18BP1@p.E716K 1 0.173076923 ENSG00000129534 chr14:45224441-45224441;C/T missense_variant False MIOS@p.R756T 1 0.147727273 ENSG00000164654 chr7:7596327-7596327;G/C missense_variant False MIP@p.R113Q 1 0.209302326 ENSG00000135517 chr12:56454276-56454276;C/T missense_variant False MIP@p.R113P 1 0.209876543 ENSG00000135517 chr12:56454276-56454276;C/G missense_variant False MIP@p.D150N 1 0.257142857 ENSG00000135517 chr12:56453668-56453668;C/T missense_variant False MIOS@p.S770Y 1 0.100628931 ENSG00000164654 chr7:7596369-7596369;C/A missense_variant False MIOS@p.S625I 1 0.073394495 ENSG00000164654 chr7:7588553-7588553;G/T missense_variant False MIOS@p.S141P 1 0.763157895 ENSG00000164654 chr7:7572896-7572896;T/C missense_variant False MIOS@p.R616T 1 0.274193548 ENSG00000164654 chr7:7588526-7588526;G/C missense_variant False MIS18BP1@p.E420K 1 0.0625 ENSG00000129534 chr14:45235904-45235904;C/T missense_variant False MIOS@p.M433I 1 0.142857143 ENSG00000164654 chr7:7574102-7574102;G/C missense_variant False MIOS@p.L282V 1 0.402985075 ENSG00000164654 chr7:7573319-7573319;C/G missense_variant False MIOS@p.L261F 1 0.429447853 ENSG00000164654 chr7:7573258-7573258;G/C missense_variant False MIOS@p.I540M 1 0.194029851 ENSG00000164654 chr7:7583344-7583344;C/G missense_variant False MIOS@p.H29D 1 0.230769231 ENSG00000164654 chr7:7572560-7572560;C/G missense_variant False MIOS@p.E598K 1 0.305084746 ENSG00000164654 chr7:7585779-7585779;G/A missense_variant False MIPEP@p.D700G 1 0.628571429 ENSG00000027001 chr13:23730391-23730391;T/C missense_variant False MIPEP@p.E82Kfs*4 1 0.156521739 ENSG00000027001 chr13:23886452-23886452;C/- frameshift_variant False MIPEP@p.G461Kfs*8 1 0.152671756 ENSG00000027001 chr13:23837711-23837714;CTCC/TTT frameshift_variant False MIPEP@p.H196Y 1 0.18902439 ENSG00000027001 chr13:23874863-23874863;G/A missense_variant False MIPEP@p.K269T 1 0.25 ENSG00000027001 chr13:23869429-23869429;T/G missense_variant False MIPOL1@p.E161K 1 0.269230769 ENSG00000151338 chr14:37270513-37270513;G/A missense_variant False MIPOL1@p.E353K 1 0.204545455 ENSG00000151338 chr14:37499933-37499933;G/A missense_variant False MIPOL1@p.E374D 1 0.047619048 ENSG00000151338 chr14:37499998-37499998;G/C missense_variant False MIPOL1@p.L301Q 1 0.361445783 ENSG00000151338 chr14:37369590-37369590;T/A missense_variant False MIPOL1@p.L301V 1 0.345238095 ENSG00000151338 chr14:37369589-37369589;C/G missense_variant False MIPOL1@p.R227K 1 0.293333333 ENSG00000151338 chr14:37308371-37308371;G/A missense_variant False MIPOL1@p.R373G 1 0.285714286 ENSG00000151338 chr14:37499993-37499993;A/G missense_variant False MIPOL1@p.S317C 1 0.2 ENSG00000151338 chr14:37422868-37422868;C/G missense_variant False MIPOL1@p.S317F 1 0.384615385 ENSG00000151338 chr14:37422868-37422868;C/T missense_variant False MIS12@p.E83Q 1 0.212121212 ENSG00000167842 chr17:5489109-5489109;G/C missense_variant False MIS18A@p.S36C 1 0.213483146 ENSG00000159055 chr21:32278908-32278908;G/C missense_variant False MIS18BP1@p.E1120K 1 0.403846154 ENSG00000129534 chr14:45204150-45204150;C/T missense_variant False MKI67@p.E1324D 1 0.421940928 ENSG00000148773 chr10:128107868-128107868;C/A missense_variant False MKI67@p.E1339K 1 0.41221374 ENSG00000148773 chr10:128107825-128107825;C/T missense_variant False MKI67@p.E1705K 1 0.179487179 ENSG00000148773 chr10:128106727-128106727;C/T missense_variant False MKRN3@p.Q281H 1 0.339622642 ENSG00000179455 chr15:23566625-23566625;G/C missense_variant False MKS1@p.Q522H 1 0.234200743 ENSG00000011143 chr17:58206305-58206305;C/G missense_variant False MKS1@p.E304Q 1 0.227272727 ENSG00000011143 chr17:58212383-58212383;C/G missense_variant False MKS1@p.E277K 1 0.427083333 ENSG00000011143 chr17:58213011-58213011;C/T missense_variant False MKRN3@p.S257T 1 0.333333333 ENSG00000179455 chr15:23566552-23566552;G/C missense_variant False MKRN3@p.S167F 1 0.181818182 ENSG00000179455 chr15:23566282-23566282;C/T missense_variant False MKRN3@p.R215C 1 0.516129032 ENSG00000179455 chr15:23566425-23566425;C/T missense_variant False MKRN3@p.E383Q 1 0.130434783 ENSG00000179455 chr15:23566929-23566929;G/C missense_variant False MKNK2@p.F155I 1 0.231884058 ENSG00000099875 chr19:2043154-2043154;A/T missense_variant False MKRN3@p.E354D 1 0.08 ENSG00000179455 chr15:23566844-23566844;G/C missense_variant False MKRN3@p.E129K 1 0.113207547 ENSG00000179455 chr15:23566167-23566167;G/A missense_variant False MKRN3@p.C410F 1 0.105263158 ENSG00000179455 chr15:23567011-23567011;G/T missense_variant False MKRN2@p.G63A 1 0.25 ENSG00000075975 chr3:12570103-12570103;G/C missense_variant False MKRN2@p.G48R 1 0.114754098 ENSG00000075975 chr3:12568990-12568990;G/A missense_variant False MKRN1@p.L482I 1 0.435897436 ENSG00000133606 chr7:140454522-140454522;G/T missense_variant False MKS1@p.S321L 1 0.340425532 ENSG00000011143 chr17:58210721-58210721;G/A missense_variant False MKX@p.Y97H 1 0.173333333 ENSG00000150051 chr10:27741404-27741404;A/G missense_variant False MLANA@p.E105Q 1 0.457627119 ENSG00000120215 chr9:5908664-5908664;G/C missense_variant False MLC1@p.I264M 1 0.143478261 ENSG00000100427 chr22:50068535-50068535;T/C missense_variant False MLC1@p.N110T 1 0.5 ENSG00000100427 chr22:50080012-50080012;T/G missense_variant False MLC1@p.S208C 1 0.255813953 ENSG00000100427 chr22:50074307-50074307;G/C missense_variant False MLEC@p.E183K 1 0.270114943 ENSG00000110917 chr12:120694956-120694956;G/A missense_variant False MLEC@p.E238K 1 0.149659864 ENSG00000110917 chr12:120696378-120696378;G/A missense_variant False MLEC@p.M171V 1 0.054545455 ENSG00000110917 chr12:120694920-120694920;A/G missense_variant False MLF1@p.E90Q 1 0.777777778 ENSG00000178053 chr3:158596934-158596934;G/C missense_variant False MLF1@p.L64F 1 0.588235294 ENSG00000178053 chr3:158592578-158592578;G/C missense_variant False MLF1@p.R83T 1 0.288461538 ENSG00000178053 chr3:158596914-158596914;G/C missense_variant False MLF2@p.D193H 1 0.3 ENSG00000089693 chr12:6748965-6748965;C/G missense_variant False MLH1@p.E13K 1 0.270676692 ENSG00000076242 chr3:36993584-36993584;G/A missense_variant True MLH1@p.E717Q 1 0.101694915 ENSG00000076242 chr3:37050531-37050531;G/C missense_variant True MLH1@p.E754Q 1 0.197183099 ENSG00000076242 chr3:37050642-37050642;G/C missense_variant True MLH1@p.I630T 1 0.14516129 ENSG00000076242 chr3:37047676-37047676;T/C missense_variant True MKNK2@p.Y134F 1 0.482758621 ENSG00000099875 chr19:2043521-2043521;T/A missense_variant False MKNK2@p.E160K 1 0.064748201 ENSG00000099875 chr19:2043139-2043139;C/T missense_variant False MKI67@p.E1715K 1 0.213333333 ENSG00000148773 chr10:128106697-128106697;C/T missense_variant False MKI67@p.E930K 1 0.365853659 ENSG00000148773 chr10:128109052-128109052;C/T missense_variant False MKI67@p.I1492M 1 0.070063694 ENSG00000148773 chr10:128107364-128107364;T/C missense_variant False MKI67@p.H84L 1 0.157894737 ENSG00000148773 chr10:128122917-128122917;T/A missense_variant False MKI67@p.H3077Q 1 0.066666667 ENSG00000148773 chr10:128102609-128102609;G/C missense_variant False MKI67@p.G617A 1 0.38 ENSG00000148773 chr10:128112252-128112252;C/G missense_variant False MKI67@p.F2525C 1 0.447204969 ENSG00000148773 chr10:128104266-128104266;A/C missense_variant False MKI67@p.E940Q 1 0.461538462 ENSG00000148773 chr10:128109022-128109022;C/G missense_variant False MKI67@p.E453K 1 0.25 ENSG00000148773 chr10:128115051-128115051;C/T missense_variant False MKNK1@p.P427S 1 0.130434783 ENSG00000079277 chr1:46558658-46558658;G/A missense_variant False MKI67@p.E310K 1 0.178571429 ENSG00000148773 chr10:128115480-128115480;C/T missense_variant False MKI67@p.E2660Q 1 0.526946108 ENSG00000148773 chr10:128103862-128103862;C/G missense_variant False MKI67@p.E2641D 1 0.24 ENSG00000148773 chr10:128103917-128103917;C/G missense_variant False MKI67@p.E2573K 1 0.525179856 ENSG00000148773 chr10:128104123-128104123;C/T missense_variant False MKI67@p.E2069Q 1 0.1625 ENSG00000148773 chr10:128105635-128105635;C/G missense_variant False MKI67@p.E1887Q 1 0.101654846 ENSG00000148773 chr10:128106181-128106181;C/G missense_variant False MKI67@p.K1330N 1 0.486577181 ENSG00000148773 chr10:128107850-128107850;C/G missense_variant False MKI67@p.K1491E 1 0.458823529 ENSG00000148773 chr10:128107369-128107369;T/C missense_variant False MKI67@p.K2000N 1 0.790794979 ENSG00000148773 chr10:128105840-128105840;C/G missense_variant False MKI67@p.L1076P 1 0.412997904 ENSG00000148773 chr10:128108613-128108613;A/G missense_variant False MKI67@p.P1214T 1 0.361702128 ENSG00000148773 chr10:128108200-128108200;G/T missense_variant False MKI67@p.Q1232H 1 0.112 ENSG00000148773 chr10:128108144-128108144;C/G missense_variant False MKI67@p.Q1334H 1 0.443396226 ENSG00000148773 chr10:128107838-128107838;T/G missense_variant False MKI67@p.Q2142E 1 0.59375 ENSG00000148773 chr10:128105416-128105416;G/C missense_variant False MKI67@p.R81Q 1 0.1 ENSG00000148773 chr10:128122926-128122926;C/T missense_variant False MKKS@p.L363F 1 0.383333333 ENSG00000285723 chr20:10408702-10408702;G/A missense_variant False MKKS@p.R208K 1 0.351351351 ENSG00000285723 chr20:10412892-10412892;C/T missense_variant False MKLN1@p.K112N 1 0.303030303 ENSG00000128585 chr7:131388908-131388908;A/T missense_variant False MKLN1@p.P572Q 1 0.106666667 ENSG00000128585 chr7:131464335-131464335;C/A missense_variant False MKNK1@p.A414Hfs*2 1 0.236363636 ENSG00000079277 chr1:46558697-46558697;C/- frameshift_variant False MKNK1@p.E249K 1 0.2 ENSG00000079277 chr1:46562831-46562831;C/T missense_variant False MKNK1@p.L438V 1 0.133333333 ENSG00000079277 chr1:46558625-46558625;G/C missense_variant False MKNK1@p.P367L 1 0.138888889 ENSG00000079277 chr1:46560270-46560270;G/A missense_variant False MIOS@p.E567D 1 0.0625 ENSG00000164654 chr7:7585688-7585688;G/C missense_variant False MIOS@p.D16H 1 0.138461538 ENSG00000164654 chr7:7572521-7572521;G/C missense_variant False MINPP1@p.R325T 1 0.156626506 ENSG00000107789 chr10:87521076-87521076;G/C missense_variant False MICALL2@p.Q527E 1 0.354037267 ENSG00000164877 chr7:1442324-1442324;G/C missense_variant False MICU1@p.K350N 1 0.193548387 ENSG00000107745 chr10:72423255-72423255;C/G missense_variant False MICB@p.M163I 1 0.057142857 ENSG00000204516 chr6:31506306-31506306;G/A missense_variant False MICALL2@p.W587C 1 0.303030303 ENSG00000164877 chr7:1440635-1440635;C/G missense_variant False MICALL2@p.V669I 1 0.258064516 ENSG00000164877 chr7:1438957-1438957;C/T missense_variant False MICALL2@p.S494T 1 0.046961326 ENSG00000164877 chr7:1442422-1442422;C/G missense_variant False MICALL2@p.S483T 1 0.17037037 ENSG00000164877 chr7:1442455-1442455;C/G missense_variant False MICALL1@p.S620L 1 0.3 ENSG00000100139 chr22:37927804-37927804;C/T missense_variant False MICAL3@p.E182K 1 0.25 ENSG00000243156 chr22:17902676-17902676;C/T missense_variant False MICALL1@p.S538L 1 0.108108108 ENSG00000100139 chr22:37927558-37927558;C/T missense_variant False MICALL1@p.Q576E 1 0.15 ENSG00000100139 chr22:37927671-37927671;C/G missense_variant False MICALL1@p.A485V 1 0.580645161 ENSG00000100139 chr22:37926032-37926032;C/T missense_variant False MICAL3@p.V1076M 1 0.34375 ENSG00000243156 chr22:17823028-17823028;C/T missense_variant False MICAL3@p.Q1966H 1 0.163934426 ENSG00000243156 chr22:17790843-17790843;C/G missense_variant False MICAL3@p.K458N 1 0.32 ENSG00000243156 chr22:17895359-17895359;C/G missense_variant False MICU1@p.S17Y 1 0.631578947 ENSG00000107745 chr10:72566744-72566744;G/T missense_variant False MICU2@p.K427E 1 0.09375 ENSG00000165487 chr13:21493275-21493275;T/C missense_variant False MICU2@p.N231S 1 0.536231884 ENSG00000165487 chr13:21510073-21510073;T/C missense_variant False MICU2@p.S64T 1 0.171232877 ENSG00000165487 chr13:21603958-21603958;C/G missense_variant False MICU3@p.D245H 1 0.222222222 ENSG00000155970 chr8:17085274-17085274;G/C missense_variant False MICU3@p.N403I 1 0.235294118 ENSG00000155970 chr8:17105535-17105535;A/T missense_variant False MID1@p.C145F 1 0.243243243 ENSG00000101871 chrX:10567114-10567114;C/A missense_variant False MID1@p.D217N 1 0.19047619 ENSG00000101871 chrX:10566899-10566899;C/T missense_variant False MID1@p.D435H 1 0.06 ENSG00000101871 chrX:10459790-10459790;C/G missense_variant False MID1@p.E337K 1 0.262820513 ENSG00000101871 chrX:10482484-10482484;C/T missense_variant False MID1@p.H600Tfs*22 1 0.282608696 ENSG00000101871 chrX:10449574-10449574;G/- frameshift_variant False MID2@p.D539N 1 0.506493506 ENSG00000080561 chrX:107926111-107926111;G/A missense_variant False MID2@p.E570Q 1 0.25 ENSG00000080561 chrX:107926204-107926204;G/C missense_variant False MID2@p.N204D 1 0.367647059 ENSG00000080561 chrX:107841275-107841275;A/G missense_variant False MIDEAS@p.A24V 1 0.282051282 ENSG00000156030 chr14:73739938-73739938;G/A missense_variant False MIDEAS@p.D548H 1 0.315315315 ENSG00000156030 chr14:73737105-73737105;C/G missense_variant False MIDEAS@p.E1026Q 1 0.341463415 ENSG00000156030 chr14:73719363-73719363;C/G missense_variant False MICAL3@p.E1844Q 1 0.5 ENSG00000243156 chr22:17810729-17810729;C/G missense_variant False MICAL3@p.E1554K 1 0.2 ENSG00000243156 chr22:17818001-17818001;C/T missense_variant False MIDEAS@p.E646K 1 0.411764706 ENSG00000156030 chr14:73729799-73729799;C/T missense_variant False MICAL1@p.D539N 1 0.320224719 ENSG00000135596 chr6:109448781-109448781;C/T missense_variant False MICAL1@p.R318W 1 0.789473684 ENSG00000135596 chr6:109450539-109450539;G/A missense_variant False MICAL1@p.N494S 1 0.291139241 ENSG00000135596 chr6:109449435-109449435;T/C missense_variant False MICAL1@p.M369I 1 0.271929825 ENSG00000135596 chr6:109450384-109450384;C/G missense_variant False MICAL1@p.F717L 1 0.310344828 ENSG00000135596 chr6:109447149-109447149;G/C missense_variant False MICAL1@p.F607L 1 0.276595745 ENSG00000135596 chr6:109448237-109448237;G/T missense_variant False MICAL1@p.D539Y 1 0.2 ENSG00000135596 chr6:109448781-109448781;C/A missense_variant False MIB2@p.S75L 1 0.304347826 ENSG00000197530 chr1:1616557-1616557;C/T missense_variant False MICAL2@p.S760Y 1 0.291666667 ENSG00000133816 chr11:12241104-12241104;C/A missense_variant False MIB2@p.E249K 1 0.333333333 ENSG00000197530 chr1:1623926-1623926;G/A missense_variant False MIB1@p.G980E 1 0.166666667 ENSG00000101752 chr18:21864584-21864584;G/A missense_variant False MIB1@p.G283A 1 0.461538462 ENSG00000101752 chr18:21779625-21779625;G/C missense_variant False MIB1@p.G171E 1 0.466666667 ENSG00000101752 chr18:21768733-21768733;G/A missense_variant False MIB1@p.F226L 1 0.387878788 ENSG00000101752 chr18:21778144-21778144;C/G missense_variant False MIB1@p.E509K 1 0.14893617 ENSG00000101752 chr18:21815661-21815661;G/A missense_variant False MICAL2@p.D606N 1 0.326530612 ENSG00000133816 chr11:12226298-12226298;G/A missense_variant False MICAL2@p.E1071K 1 0.776119403 ENSG00000133816 chr11:12258536-12258536;G/A missense_variant False MICAL2@p.E1462D 1 0.25 ENSG00000133816 chr11:12294031-12294031;G/C missense_variant False MICAL2@p.E215Q 1 0.454545455 ENSG00000133816 chr11:12209550-12209550;G/C missense_variant False MICAL2@p.G698S 1 0.655172414 ENSG00000133816 chr11:12239463-12239463;G/A missense_variant False MICAL2@p.H1055Y 1 0.274193548 ENSG00000133816 chr11:12258488-12258488;C/T missense_variant False MICAL2@p.I1934M 1 0.176136364 ENSG00000133816 chr11:12358407-12358407;C/G missense_variant False MICAL2@p.K866del 1 0.097560976 ENSG00000133816 chr11:12242710-12242712;AAG/- inframe_deletion False MICAL2@p.L498F 1 0.181818182 ENSG00000133816 chr11:12223453-12223453;C/T missense_variant False MICAL2@p.M610I 1 0.892307692 ENSG00000133816 chr11:12226312-12226312;G/A missense_variant False MICAL2@p.N860S 1 0.247191011 ENSG00000133816 chr11:12242693-12242693;A/G missense_variant False MICAL2@p.R1330Q 1 0.279792746 ENSG00000133816 chr11:12293634-12293634;G/A missense_variant False MICAL2@p.R1782T 1 0.15625 ENSG00000133816 chr11:12323994-12323994;G/C missense_variant False MICAL2@p.R1784K 1 0.267857143 ENSG00000133816 chr11:12324000-12324000;G/A missense_variant False MICAL2@p.R927T 1 0.366906475 ENSG00000133816 chr11:12244108-12244108;G/C missense_variant False MICAL2@p.S377L 1 0.349056604 ENSG00000133816 chr11:12220382-12220382;C/T missense_variant False MICAL2@p.S650C 1 0.219512195 ENSG00000133816 chr11:12227085-12227085;C/G missense_variant False MIDEAS@p.E585Q 1 0.256410256 ENSG00000156030 chr14:73729982-73729982;C/G missense_variant False MIDEAS@p.P278L 1 0.070175439 ENSG00000156030 chr14:73739176-73739176;G/A missense_variant False MINPP1@p.Q345E 1 0.585858586 ENSG00000107789 chr10:87521135-87521135;C/G missense_variant False MINDY2@p.E221D 1 0.296296296 ENSG00000128923 chr15:58772058-58772058;G/C missense_variant False MINDY3@p.E285K 1 0.272727273 ENSG00000148481 chr10:15816864-15816864;C/T missense_variant False MINDY3@p.D417N 1 0.3125 ENSG00000148481 chr10:15779081-15779081;C/T missense_variant False MINDY2@p.S81C 1 0.318181818 ENSG00000128923 chr15:58771637-58771637;C/G missense_variant False MINDY2@p.S594C 1 0.260869565 ENSG00000128923 chr15:58854525-58854525;C/G missense_variant False MINDY2@p.S491L 1 0.536231884 ENSG00000128923 chr15:58847400-58847400;C/T missense_variant False MINDY2@p.E413Q 1 0.076923077 ENSG00000128923 chr15:58831785-58831785;G/C missense_variant False MINDY1@p.S95F 1 0.411764706 ENSG00000143409 chr1:151002334-151002334;G/A missense_variant False MINAR1@p.P754L 1 0.219512195 ENSG00000169330 chr15:79458408-79458408;C/T missense_variant False MINDY1@p.S75L 1 0.381818182 ENSG00000143409 chr1:151002394-151002394;G/A missense_variant False MINDY1@p.L208M 1 0.099447514 ENSG00000143409 chr1:151000570-151000570;G/T missense_variant False MINDY1@p.I266V 1 0.235955056 ENSG00000143409 chr1:150999904-150999904;T/C missense_variant False MINDY1@p.E89Q 1 0.375 ENSG00000143409 chr1:151002353-151002353;C/G missense_variant False MINDY1@p.E110K 1 0.108225108 ENSG00000143409 chr1:151002290-151002290;C/T missense_variant False MINAR1@p.S794N 1 0.549019608 ENSG00000169330 chr15:79463149-79463149;G/A missense_variant False MINDY3@p.E433Q 1 0.173913043 ENSG00000148481 chr10:15779033-15779033;C/G missense_variant False MINDY4@p.E54K 1 0.333333333 ENSG00000106125 chr7:30778528-30778528;G/A missense_variant False MINDY4@p.H541Y 1 0.309090909 ENSG00000106125 chr7:30853403-30853403;C/T missense_variant False MINDY4@p.S410L 1 0.185185185 ENSG00000106125 chr7:30836754-30836754;C/T missense_variant False MINDY4@p.S556N 1 0.5 ENSG00000106125 chr7:30853449-30853449;G/A missense_variant False MINDY4@p.T167M 1 0.140625 ENSG00000106125 chr7:30785829-30785829;C/T missense_variant False MINK1@p.D1168Y 1 0.096774194 ENSG00000141503 chr17:4896229-4896229;G/T missense_variant False MINK1@p.D642H 1 0.555555556 ENSG00000141503 chr17:4891639-4891639;G/C missense_variant False MINK1@p.E204K 1 0.245283019 ENSG00000141503 chr17:4885584-4885584;G/A missense_variant False MINK1@p.L270V 1 0.137254902 ENSG00000141503 chr17:4886485-4886485;C/G missense_variant False MINK1@p.R290W 1 0.149606299 ENSG00000141503 chr17:4886545-4886545;C/T missense_variant False MINK1@p.S754C 1 0.220338983 ENSG00000141503 chr17:4892718-4892718;C/G missense_variant False MINPP1@p.D133N 1 0.235294118 ENSG00000107789 chr10:87505312-87505312;G/A missense_variant False MINPP1@p.D275N 1 0.285714286 ENSG00000107789 chr10:87508521-87508521;G/A missense_variant False MINPP1@p.E233Q 1 0.380952381 ENSG00000107789 chr10:87508395-87508395;G/C missense_variant False MINPP1@p.E257Q 1 0.121495327 ENSG00000107789 chr10:87508467-87508467;G/C missense_variant False MINPP1@p.F368C 1 0.059259259 ENSG00000107789 chr10:87552117-87552117;T/G missense_variant False MINAR1@p.S493C 1 0.089285714 ENSG00000169330 chr15:79457625-79457625;C/G missense_variant False MINAR1@p.K323R 1 0.298701299 ENSG00000169330 chr15:79457115-79457115;A/G missense_variant False MIDEAS@p.Q471Pfs*19 1 0.147058824 ENSG00000156030 chr14:73738597-73738598;-/G frameshift_variant False MIER1@p.D467Y 1 0.222222222 ENSG00000198160 chr1:66984760-66984760;G/T missense_variant False MIER2@p.D206N 1 0.194444444 ENSG00000105556 chr19:325674-325674;C/T missense_variant False MIER1@p.S319L 1 0.218181818 ENSG00000198160 chr1:66976608-66976608;C/T missense_variant False MIER1@p.R234K 1 0.197530864 ENSG00000198160 chr1:66970895-66970895;G/A missense_variant False MIER1@p.L451R 1 0.536585366 ENSG00000198160 chr1:66984713-66984713;T/G missense_variant False MIER1@p.K477E 1 0.586666667 ENSG00000198160 chr1:66984790-66984790;A/G missense_variant False MIER1@p.K251E 1 0.347826087 ENSG00000198160 chr1:66970945-66970945;A/G missense_variant False MIEN1@p.R95Kfs*46 1 0.098765432 ENSG00000141741 chr17:39729561-39729586;TTCTAGGGTTTCTCCATTACTGGCTC/- frameshift_variant False MINAR1@p.E676Q 1 0.377777778 ENSG00000169330 chr15:79458173-79458173;G/C missense_variant False MIEN1@p.L102P 1 0.162264151 ENSG00000141741 chr17:39729565-39729565;A/G missense_variant False MIEN1@p.E66K 1 0.358974359 ENSG00000141741 chr17:39729753-39729753;C/T missense_variant False MIEF2@p.A191V 1 0.310344828 ENSG00000177427 chr17:18263971-18263971;C/T missense_variant False MIDN@p.G443S 1 0.596153846 ENSG00000167470 chr19:1257192-1257192;G/A missense_variant False MIDEAS@p.S389C 1 0.368421053 ENSG00000156030 chr14:73738843-73738843;G/C missense_variant False MIDEAS@p.R517Q 1 0.223880597 ENSG00000156030 chr14:73737197-73737197;C/T missense_variant False MIER2@p.G25W 1 0.298969072 ENSG00000105556 chr19:336110-336110;C/A missense_variant False MIER2@p.I324M 1 0.181818182 ENSG00000105556 chr19:311857-311857;G/C missense_variant False MIER3@p.D417H 1 0.3125 ENSG00000155545 chr5:56923532-56923532;C/G missense_variant False MIER3@p.E474K 1 0.244186047 ENSG00000155545 chr5:56923361-56923361;C/T missense_variant False MIER3@p.E476Q 1 0.267605634 ENSG00000155545 chr5:56923355-56923355;C/G missense_variant False MIER3@p.P382Lfs*5 1 0.130434783 ENSG00000155545 chr5:56923741-56923741;G/- frameshift_variant False MIER3@p.R338T 1 0.240740741 ENSG00000155545 chr5:56923954-56923954;C/G missense_variant False MIER3@p.S463L 1 0.325 ENSG00000155545 chr5:56923393-56923393;G/A missense_variant False MIER3@p.Y461N 1 0.344262295 ENSG00000155545 chr5:56923400-56923400;A/T missense_variant False MIF4GD@p.E145Q 1 0.217391304 ENSG00000125457 chr17:75267546-75267546;C/G missense_variant False MIF4GD@p.E3K 1 0.098265896 ENSG00000125457 chr17:75270189-75270189;C/T missense_variant False MIF@p.M3I 1 0.323529412 ENSG00000240972 chr22:23894483-23894483;G/A missense_variant False MIGA1@p.L57V 1 0.057142857 ENSG00000180488 chr1:77783325-77783325;C/G missense_variant False MIGA2@p.E389Q 1 0.215686275 ENSG00000148343 chr9:129063626-129063626;G/C missense_variant False MIGA2@p.M11T 1 0.43877551 ENSG00000148343 chr9:129040626-129040626;T/C missense_variant False MIIP@p.R110S 1 0.428571429 ENSG00000116691 chr1:12022310-12022310;A/T missense_variant False MIIP@p.S284C 1 0.17699115 ENSG00000116691 chr1:12030032-12030032;A/T missense_variant False MLH1@p.K254N 1 0.428571429 ENSG00000076242 chr3:37014516-37014516;G/C missense_variant True MLH1@p.R474W 1 0.45505618 ENSG00000076242 chr3:37028794-37028794;C/T missense_variant True MLH3@p.D1049N 1 0.481481481 ENSG00000119684 chr14:75046511-75046511;C/T missense_variant False MNX1@p.Q313H 1 0.147286822 ENSG00000130675 chr7:157005787-157005787;C/A missense_variant False MOB1B@p.H24Y 1 0.720930233 ENSG00000173542 chr4:70958929-70958929;C/T missense_variant False MOB1A@p.P48S 1 0.068493151 ENSG00000114978 chr2:74172625-74172625;G/A missense_variant False MOB1A@p.A58S 1 0.072916667 ENSG00000114978 chr2:74172595-74172595;C/A missense_variant False MOAP1@p.E36Q 1 0.264 ENSG00000165943 chr14:93184137-93184137;C/G missense_variant False MOAP1@p.E179K 1 0.155555556 ENSG00000165943 chr14:93183708-93183708;C/T missense_variant False MOAP1@p.D199Y 1 0.202898551 ENSG00000165943 chr14:93183648-93183648;C/A missense_variant False MNDA@p.R45K 1 0.232876712 ENSG00000163563 chr1:158842287-158842287;G/A missense_variant False MN1@p.S1306C 1 0.29787234 ENSG00000169184 chr22:27750961-27750961;G/C missense_variant False MNDA@p.Q311L 1 0.523809524 ENSG00000163563 chr1:158845948-158845948;A/T missense_variant False MNDA@p.K218I 1 0.155555556 ENSG00000163563 chr1:158845669-158845669;A/T missense_variant False MNDA@p.G163E 1 0.069767442 ENSG00000163563 chr1:158844040-158844040;G/A missense_variant False MNDA@p.E145K 1 0.163793103 ENSG00000163563 chr1:158843985-158843985;G/A missense_variant False MNAT1@p.R41K 1 0.515151515 ENSG00000020426 chr14:60796249-60796249;G/A missense_variant False MNAT1@p.R162I 1 0.373015873 ENSG00000020426 chr14:60812051-60812051;G/T missense_variant False MOB2@p.F179S 1 0.072847682 ENSG00000182208 chr11:1470341-1470341;A/G missense_variant False MOB3A@p.Y192C 1 0.176470588 ENSG00000172081 chr19:2076860-2076860;T/C missense_variant False MOB3C@p.F68L 1 0.2 ENSG00000142961 chr1:46613118-46613118;G/C missense_variant False MOB3C@p.R160Q 1 0.663265306 ENSG00000142961 chr1:46610144-46610144;C/T missense_variant False MOB3C@p.V64L 1 0.202898551 ENSG00000142961 chr1:46613132-46613132;C/A missense_variant False MOB3C@p.W124R 1 0.055555556 ENSG00000142961 chr1:46612952-46612952;A/T missense_variant False MOCOS@p.H253Y 1 0.285714286 ENSG00000075643 chr18:36200140-36200140;C/T missense_variant False MOCOS@p.H621Y 1 0.431034483 ENSG00000075643 chr18:36220118-36220118;C/T missense_variant False MOCOS@p.I637M 1 0.285714286 ENSG00000075643 chr18:36220168-36220168;C/G missense_variant False MOCOS@p.L589V 1 0.116883117 ENSG00000075643 chr18:36215945-36215945;C/G missense_variant False MOCOS@p.M163T 1 0.555555556 ENSG00000075643 chr18:36199871-36199871;T/C missense_variant False MOCOS@p.Q818R 1 0.357142857 ENSG00000075643 chr18:36266792-36266792;A/G missense_variant False MOCOS@p.R562K 1 0.065217391 ENSG00000075643 chr18:36215865-36215865;G/A missense_variant False MOCS1@p.E105K 1 0.296296296 ENSG00000124615 chr6:39925783-39925783;C/T missense_variant False MOCS1@p.G530R 1 0.487179487 ENSG00000124615 chr6:39906680-39906680;C/G missense_variant False MOCS1@p.G66C 1 0.136363636 ENSG00000124615 chr6:39927383-39927383;C/A missense_variant False MOCS2@p.D156Y 1 0.1125 ENSG00000164172 chr5:53100446-53100446;C/A missense_variant False MNAT1@p.E169K 1 0.308510638 ENSG00000020426 chr14:60812071-60812071;G/A missense_variant False MN1@p.S1113A 1 0.269230769 ENSG00000169184 chr22:27797207-27797207;A/C missense_variant False MOCS3@p.M119I 1 0.103092784 ENSG00000124217 chr20:50959199-50959199;G/A missense_variant False MMRN2@p.E925* 1 0.282700422 ENSG00000173269 chr10:86936820-86936821;-/A frameshift_variant False MMS22L@p.E399D 1 0.344262295 ENSG00000146263 chr6:97233966-97233966;T/G missense_variant False MMS22L@p.D468N 1 0.4 ENSG00000146263 chr6:97231553-97231553;C/T missense_variant False MMS19@p.R162Q 1 0.179775281 ENSG00000155229 chr10:97477355-97477355;C/T missense_variant False MMS19@p.L345V 1 0.266666667 ENSG00000155229 chr10:97468996-97468996;G/C missense_variant False MMS19@p.E58K 1 0.222222222 ENSG00000155229 chr10:97481032-97481032;C/T missense_variant False MMS19@p.D1006N 1 0.48 ENSG00000155229 chr10:97458849-97458849;C/T missense_variant False MMRN2@p.E418K 1 0.548611111 ENSG00000173269 chr10:86943532-86943532;C/T missense_variant False MN1@p.G915S 1 0.296296296 ENSG00000169184 chr22:27797801-27797801;C/T missense_variant False MMRN1@p.S1044I 1 0.095238095 ENSG00000138722 chr4:89951617-89951617;G/T missense_variant False MMRN1@p.R59G 1 0.205128205 ENSG00000138722 chr4:89895146-89895146;C/G missense_variant False MMRN1@p.Q638R 1 0.366071429 ENSG00000138722 chr4:89935593-89935593;A/G missense_variant False MMRN1@p.M583I 1 0.264705882 ENSG00000138722 chr4:89935429-89935429;G/A missense_variant False MMRN1@p.E107K 1 0.129032258 ENSG00000138722 chr4:89895290-89895290;G/A missense_variant False MMRN1@p.D594E 1 0.339622642 ENSG00000138722 chr4:89935462-89935462;C/A missense_variant False MMS22L@p.E45K 1 0.416666667 ENSG00000146263 chr6:97282345-97282345;C/T missense_variant False MMS22L@p.E882K 1 0.169230769 ENSG00000146263 chr6:97178478-97178478;C/T missense_variant False MMS22L@p.Q1232H 1 0.493333333 ENSG00000146263 chr6:97146842-97146842;T/G missense_variant False MMS22L@p.R890P 1 0.123287671 ENSG00000146263 chr6:97178453-97178453;C/G missense_variant False MMS22L@p.S168L 1 0.388888889 ENSG00000146263 chr6:97272807-97272807;G/A missense_variant False MMS22L@p.S625F 1 0.074074074 ENSG00000146263 chr6:97229059-97229059;G/A missense_variant False MMS22L@p.S737L 1 0.277777778 ENSG00000146263 chr6:97186520-97186520;G/A missense_variant False MMS22L@p.S871L 1 0.234375 ENSG00000146263 chr6:97178510-97178510;G/A missense_variant False MMS22L@p.Y849C 1 0.229508197 ENSG00000146263 chr6:97178576-97178576;T/C missense_variant False MMUT@p.E118K 1 0.131147541 ENSG00000146085 chr6:49459115-49459115;C/T missense_variant False MMUT@p.E593Q 1 0.186046512 ENSG00000146085 chr6:49441871-49441871;C/G missense_variant False MMUT@p.G158E 1 0.590163934 ENSG00000146085 chr6:49457971-49457971;C/T missense_variant False MMUT@p.G462E 1 0.074534161 ENSG00000146085 chr6:49448875-49448875;C/T missense_variant False MMUT@p.L196F 1 0.30952381 ENSG00000146085 chr6:49457858-49457858;G/A missense_variant False MMUT@p.M266V 1 0.452830189 ENSG00000146085 chr6:49456195-49456195;T/C missense_variant False MMUT@p.Q527E 1 0.222222222 ENSG00000146085 chr6:49444736-49444736;G/C missense_variant False MN1@p.G913R 1 0.242424242 ENSG00000169184 chr22:27797807-27797807;C/T missense_variant False MOCS3@p.D241N 1 0.255813953 ENSG00000124217 chr20:50959563-50959563;G/A missense_variant False MOCS3@p.R186C 1 0.302325581 ENSG00000124217 chr20:50959398-50959398;C/T missense_variant False MMRN1@p.A307P 1 0.132075472 ENSG00000138722 chr4:89923236-89923236;G/C missense_variant False MORC1@p.S913C 1 0.440366972 ENSG00000114487 chr3:108963475-108963475;G/C missense_variant False MORC2@p.W451C 1 0.275 ENSG00000133422 chr22:30937831-30937831;C/G missense_variant False MORC2@p.R551K 1 0.101123596 ENSG00000133422 chr22:30936596-30936596;C/T missense_variant False MORC2@p.I384M 1 0.151162791 ENSG00000133422 chr22:30938127-30938127;G/C missense_variant False MORC2@p.E537Q 1 0.474747475 ENSG00000133422 chr22:30936639-30936639;C/G missense_variant False MORC2@p.A1022T 1 0.169230769 ENSG00000133422 chr22:30926838-30926838;C/T missense_variant False MORC1@p.V401L 1 0.169014085 ENSG00000114487 chr3:109054857-109054857;C/G missense_variant False MORC1@p.S498C 1 0.492957746 ENSG00000114487 chr3:109032792-109032792;G/C missense_variant False MORC1@p.E637K 1 0.364864865 ENSG00000114487 chr3:109005174-109005174;C/T missense_variant False MORC1@p.R251K 1 0.46031746 ENSG00000114487 chr3:109069695-109069695;C/T missense_variant False MORC1@p.R152T 1 0.179487179 ENSG00000114487 chr3:109095037-109095037;C/G missense_variant False MORC1@p.P232Q 1 0.089285714 ENSG00000114487 chr3:109069752-109069752;G/T missense_variant False MORC1@p.L847S 1 0.258333333 ENSG00000114487 chr3:108971340-108971340;A/G missense_variant False MORC1@p.L198M 1 0.313432836 ENSG00000114487 chr3:109093533-109093533;G/T missense_variant False MORC1@p.K596I 1 0.315789474 ENSG00000114487 chr3:109005296-109005296;T/A missense_variant False MORC3@p.D573G 1 0.484848485 ENSG00000159256 chr21:36369086-36369086;A/G missense_variant False MORC3@p.D615N 1 0.355140187 ENSG00000159256 chr21:36369211-36369211;G/A missense_variant False MORC3@p.D633Y 1 0.198275862 ENSG00000159256 chr21:36369265-36369265;G/T missense_variant False MORC3@p.H356Y 1 0.076923077 ENSG00000159256 chr21:36349371-36349371;C/T missense_variant False MORC3@p.Q132E 1 0.333333333 ENSG00000159256 chr21:36337880-36337880;C/G missense_variant False MORC3@p.S688F 1 0.577777778 ENSG00000159256 chr21:36369431-36369431;C/T missense_variant False MORC3@p.T364N 1 0.461538462 ENSG00000159256 chr21:36349396-36349396;C/A missense_variant False MORC3@p.T874K 1 0.231884058 ENSG00000159256 chr21:36372486-36372486;C/A missense_variant False MORC4@p.D305N 1 0.444444444 ENSG00000133131 chrX:106980914-106980914;C/T missense_variant False MORC4@p.D378N 1 0.262295082 ENSG00000133131 chrX:106976609-106976609;C/T missense_variant False MORC4@p.K650E 1 0.169642857 ENSG00000133131 chrX:106942943-106942943;T/C missense_variant False MORC4@p.R317K 1 0.140186916 ENSG00000133131 chrX:106978186-106978186;C/T missense_variant False MORC4@p.T584R 1 0.076388889 ENSG00000133131 chrX:106943140-106943140;G/C missense_variant False MORF4L1@p.E194K 1 0.413793103 ENSG00000185787 chr15:78892236-78892236;G/A missense_variant False MORF4L1@p.E94K 1 0.175 ENSG00000185787 chr15:78886148-78886148;G/A missense_variant False MORF4L1@p.H45D 1 0.365384615 ENSG00000185787 chr15:78880557-78880557;C/G missense_variant False MORF4L1@p.T316S 1 0.441860465 ENSG00000185787 chr15:78894846-78894846;A/T missense_variant False MORC1@p.I80M 1 0.363636364 ENSG00000114487 chr3:109100491-109100491;G/C missense_variant False MORC1@p.E576K 1 0.285714286 ENSG00000114487 chr3:109007070-109007070;C/T missense_variant False MOCS3@p.T185S 1 0.093457944 ENSG00000124217 chr20:50959396-50959396;C/G missense_variant False MOGAT3@p.Q172H 1 0.254545455 ENSG00000106384 chr7:101198343-101198343;C/G missense_variant False MOK@p.M87I 1 0.25 ENSG00000080823 chr14:102263568-102263568;C/T missense_variant False MOGS@p.R351T 1 0.421052632 ENSG00000115275 chr2:74462737-74462737;C/G missense_variant False MOGS@p.H151Y 1 0.377192982 ENSG00000115275 chr2:74464624-74464624;G/A missense_variant False MOGS@p.G824D 1 0.218181818 ENSG00000115275 chr2:74461318-74461318;C/T missense_variant False MOGS@p.E622K 1 0.17 ENSG00000115275 chr2:74461925-74461925;C/T missense_variant False MOGS@p.E373Q 1 0.218543046 ENSG00000115275 chr2:74462672-74462672;C/G missense_variant False MOGAT3@p.F238S 1 0.508474576 ENSG00000106384 chr7:101196345-101196345;A/G missense_variant False MORC1@p.E288K 1 0.140740741 ENSG00000114487 chr3:109063185-109063185;C/T missense_variant False MOGAT3@p.E78K 1 0.390625 ENSG00000106384 chr7:101200290-101200290;C/T missense_variant False MOGAT3@p.A194V 1 0.72972973 ENSG00000106384 chr7:101198278-101198278;G/A missense_variant False MOGAT2@p.W80R 1 0.510204082 ENSG00000166391 chr11:75720138-75720138;T/C missense_variant False MOGAT2@p.E298K 1 0.298245614 ENSG00000166391 chr11:75731173-75731173;G/A missense_variant False MOGAT1@p.R153Q 1 0.347222222 ENSG00000124003 chr2:222689449-222689449;G/A missense_variant False MOGAT1@p.M41I 1 0.315789474 ENSG00000124003 chr2:222688372-222688372;G/T missense_variant False MON1A@p.D243N 1 0.814814815 ENSG00000164077 chr3:49911703-49911703;C/T missense_variant False MON1A@p.G142D 1 0.228813559 ENSG00000164077 chr3:49912005-49912005;C/T missense_variant False MON1B@p.D99Tfs*17 1 0.4 ENSG00000103111 chr16:77193594-77193594;G/- frameshift_variant False MON1B@p.S393L 1 0.2 ENSG00000103111 chr16:77195037-77195037;C/T missense_variant False MON1B@p.S440N 1 0.242424242 ENSG00000103111 chr16:77195558-77195558;G/A missense_variant False MON2@p.D602H 1 0.14893617 ENSG00000061987 chr12:62535613-62535613;G/C missense_variant False MON2@p.D761H 1 0.282051282 ENSG00000061987 chr12:62538422-62538422;G/C missense_variant False MON2@p.E1369Q 1 0.247706422 ENSG00000061987 chr12:62565309-62565309;G/C missense_variant False MON2@p.E248K 1 0.413793103 ENSG00000061987 chr12:62501651-62501651;G/A missense_variant False MON2@p.L567Ffs*15 1 0.593984962 ENSG00000061987 chr12:62534906-62534909;CTCA/- frameshift_variant False MON2@p.M680I 1 0.238095238 ENSG00000061987 chr12:62537628-62537628;G/A missense_variant False MON2@p.P1707A 1 0.35443038 ENSG00000061987 chr12:62592714-62592714;C/G missense_variant False MON2@p.R1468T 1 0.076530612 ENSG00000061987 chr12:62571471-62571471;G/C missense_variant False MON2@p.S1687F 1 0.376237624 ENSG00000061987 chr12:62592655-62592655;C/T missense_variant False MON2@p.S1688L 1 0.443181818 ENSG00000061987 chr12:62592658-62592658;C/T missense_variant False MORC1@p.D915H 1 0.137681159 ENSG00000114487 chr3:108963470-108963470;C/G missense_variant False MORC1@p.E122K 1 0.415384615 ENSG00000114487 chr3:109099417-109099417;C/T missense_variant False MMRN1@p.D366H 1 0.19047619 ENSG00000138722 chr4:89927935-89927935;G/C missense_variant False MMP9@p.S308F 1 0.078431373 ENSG00000100985 chr20:46011673-46011673;C/T missense_variant False MLH3@p.S716C 1 0.420634921 ENSG00000119684 chr14:75047509-75047509;G/C missense_variant False MLYCD@p.V312I 1 0.262295082 ENSG00000103150 chr16:83912353-83912353;G/A missense_variant False MMADHC@p.R266C 1 0.464788732 ENSG00000168288 chr2:149570069-149570069;G/A missense_variant False MMADHC@p.M186I 1 0.278688525 ENSG00000168288 chr2:149575762-149575762;C/A missense_variant False MMACHC@p.A6S 1 0.111801242 ENSG00000132763 chr1:45500348-45500348;G/T missense_variant False MMAB@p.E84Q 1 0.172043011 ENSG00000139428 chr12:109568810-109568810;C/G missense_variant False MMAA@p.S402Y 1 0.116129032 ENSG00000151611 chr4:145655382-145655382;C/A missense_variant False MMAA@p.R386W 1 0.413461538 ENSG00000151611 chr4:145655333-145655333;C/T missense_variant False MLYCD@p.R235K 1 0.173913043 ENSG00000103150 chr16:83908188-83908188;G/A missense_variant False MLXIP@p.K571T 1 0.181818182 ENSG00000175727 chr12:122133967-122133967;A/C missense_variant False MLXIPL@p.T529R 1 0.19047619 ENSG00000009950 chr7:73597199-73597199;G/C missense_variant False MLXIPL@p.Q634K 1 0.142857143 ENSG00000009950 chr7:73596402-73596402;G/T missense_variant False MLXIPL@p.K504I 1 0.4 ENSG00000009950 chr7:73597274-73597274;T/A missense_variant False MLXIPL@p.E698Q 1 0.142857143 ENSG00000009950 chr7:73595936-73595936;C/G missense_variant False MLXIPL@p.D367Tfs*6 1 0.321428571 ENSG00000009950 chr7:73597686-73597686;C/- frameshift_variant False MLXIP@p.V824M 1 0.114285714 ENSG00000175727 chr12:122138900-122138900;G/A missense_variant False MMD2@p.G215A 1 0.117647059 ENSG00000136297 chr7:4907565-4907565;C/G missense_variant False MMD2@p.I111M 1 0.55 ENSG00000136297 chr7:4916037-4916037;G/C missense_variant False MMD2@p.Q29K 1 0.428571429 ENSG00000136297 chr7:4925495-4925495;G/T missense_variant False MME@p.D12H 1 0.22 ENSG00000196549 chr3:155084201-155084201;G/C missense_variant False MME@p.D651V 1 0.363636364 ENSG00000196549 chr3:155168769-155168769;A/T missense_variant False MME@p.E185K 1 0.244897959 ENSG00000196549 chr3:155116885-155116885;G/A missense_variant False MME@p.I70M 1 0.387387387 ENSG00000196549 chr3:155115007-155115007;C/G missense_variant False MME@p.M273I 1 0.152173913 ENSG00000196549 chr3:155138200-155138200;G/C missense_variant False MME@p.N614K 1 0.40776699 ENSG00000196549 chr3:155168553-155168553;C/G missense_variant False MME@p.N72S 1 0.102272727 ENSG00000196549 chr3:155115012-155115012;A/G missense_variant False MME@p.Q453E 1 0.1875 ENSG00000196549 chr3:155144398-155144398;C/G missense_variant False MME@p.R736H 1 0.088235294 ENSG00000196549 chr3:155180413-155180413;G/A missense_variant False MME@p.S548L 1 0.057471264 ENSG00000196549 chr3:155160431-155160431;C/T missense_variant False MME@p.Y624C 1 0.084745763 ENSG00000196549 chr3:155168582-155168582;A/G missense_variant False MMEL1@p.E697Q 1 0.361702128 ENSG00000142606 chr1:2592006-2592006;C/G missense_variant False MMEL1@p.P107L 1 0.214285714 ENSG00000142606 chr1:2609804-2609804;G/A missense_variant False MMEL1@p.Q703H 1 0.105263158 ENSG00000142606 chr1:2591986-2591986;C/G missense_variant False MLXIP@p.S489C 1 0.4 ENSG00000175727 chr12:122133721-122133721;C/G missense_variant False MLXIP@p.D495N 1 0.5 ENSG00000175727 chr12:122133738-122133738;G/A missense_variant False MMP10@p.G177R 1 0.273972603 ENSG00000166670 chr11:102778717-102778717;C/T missense_variant False MLLT10@p.S779L 1 0.246153846 ENSG00000078403 chr10:21733016-21733016;C/T missense_variant False MLLT3@p.H332Y 1 0.455696203 ENSG00000171843 chr9:20413852-20413852;G/A missense_variant False MLLT3@p.E245D 1 0.246621622 ENSG00000171843 chr9:20414111-20414111;C/G missense_variant False MLLT3@p.E231Q 1 0.239583333 ENSG00000171843 chr9:20414155-20414155;C/G missense_variant False MLLT1@p.V114L 1 0.366666667 ENSG00000130382 chr19:6230650-6230650;C/A missense_variant False MLLT1@p.K121R 1 0.727272727 ENSG00000130382 chr19:6230628-6230628;T/C missense_variant False MLLT1@p.C99Y 1 0.193370166 ENSG00000130382 chr19:6230694-6230694;C/T missense_variant False MLLT10@p.S613L 1 0.21 ENSG00000078403 chr10:21713910-21713910;C/T missense_variant False MLX@p.Q243E 1 0.736263736 ENSG00000108788 chr17:42570070-42570070;C/G missense_variant False MLLT10@p.S503C 1 0.256410256 ENSG00000078403 chr10:21673806-21673806;C/G missense_variant False MLLT10@p.S364C 1 0.155555556 ENSG00000078403 chr10:21673389-21673389;C/G missense_variant False MLLT10@p.E459K 1 0.299319728 ENSG00000078403 chr10:21673673-21673673;G/A missense_variant False MLKL@p.R152T 1 0.195402299 ENSG00000168404 chr16:74695303-74695303;C/G missense_variant False MLKL@p.K40E 1 0.162790698 ENSG00000168404 chr16:74695640-74695640;T/C missense_variant False MLH3@p.T610I 1 0.432432432 ENSG00000119684 chr14:75047827-75047827;G/A missense_variant False MLLT3@p.M431V 1 0.427350427 ENSG00000171843 chr9:20363516-20363516;T/C missense_variant False MLLT3@p.S42Kfs*24 1 0.111111111 ENSG00000171843 chr9:20620698-20620722;TTCTCCACAAAGTGCTGTATGTTAC/- frameshift_variant False MLLT6@p.D79N 1 0.177419355 ENSG00000275023 chr17:38707531-38707531;G/A missense_variant False MLLT6@p.P353A 1 0.4 ENSG00000275023 chr17:38716387-38716387;C/G missense_variant False MLLT6@p.R657W 1 0.31147541 ENSG00000275023 chr17:38719543-38719543;C/T missense_variant False MLN@p.E71K 1 0.481481481 ENSG00000096395 chr6:33799128-33799128;C/T missense_variant False MLNR@p.K360N 1 0.100719424 ENSG00000102539 chr13:49222218-49222218;G/C missense_variant False MLNR@p.M329I 1 0.290909091 ENSG00000102539 chr13:49222125-49222125;G/C missense_variant False MLNR@p.R282Q 1 0.807692308 ENSG00000102539 chr13:49221182-49221182;G/A missense_variant False MLPH@p.R29Q 1 0.137681159 ENSG00000115648 chr2:237493512-237493512;G/A missense_variant False MLPH@p.S173L 1 0.297297297 ENSG00000115648 chr2:237518611-237518611;C/T missense_variant False MLST8@p.R25G 1 0.419354839 ENSG00000167965 chr16:2206158-2206158;C/G missense_variant False MLST8@p.R36Q 1 0.223880597 ENSG00000167965 chr16:2206192-2206192;G/A missense_variant False MLST8@p.S253C 1 0.301204819 ENSG00000167965 chr16:2208509-2208509;C/G missense_variant False MLST8@p.S268Wfs*52 1 0.183098592 ENSG00000167965 chr16:2208554-2208561;CCTCCCGC/- frameshift_variant False MLX@p.D235H 1 0.064516129 ENSG00000108788 chr17:42570046-42570046;G/C missense_variant False MLX@p.I273M 1 0.142857143 ENSG00000108788 chr17:42570162-42570162;C/G missense_variant False MMEL1@p.S532L 1 0.534653465 ENSG00000142606 chr1:2594883-2594883;G/A missense_variant False MMP10@p.K107N 1 0.12195122 ENSG00000166670 chr11:102779530-102779530;C/G missense_variant False MMP9@p.S273Afs*65 1 0.277310924 ENSG00000100985 chr20:46011306-46011306;C/- frameshift_variant False MMP25@p.S162F 1 0.153846154 ENSG00000008516 chr16:3050370-3050370;C/T missense_variant False MMP28@p.P463H 1 0.181818182 ENSG00000271447 chr17:35766675-35766675;G/T missense_variant False MMP27@p.R372C 1 0.690140845 ENSG00000137675 chr11:102693985-102693985;G/A missense_variant False MMP27@p.H504Y 1 0.203125 ENSG00000137675 chr11:102691798-102691798;G/A missense_variant False MMP27@p.F146Lfs*12 1 0.314049587 ENSG00000137675 chr11:102703022-102703022;G/- frameshift_variant False MMP26@p.D165H 1 0.308724832 ENSG00000167346 chr11:4991394-4991394;G/C missense_variant False MMP25@p.S245L 1 0.389261745 ENSG00000008516 chr16:3057105-3057105;C/T missense_variant False MMP25@p.R106C 1 0.187919463 ENSG00000008516 chr16:3050092-3050092;C/T missense_variant False MMP1@p.P5S 1 0.181818182 ENSG00000196611 chr11:102798080-102798080;G/A missense_variant False MMP25@p.D186N 1 0.350877193 ENSG00000008516 chr16:3050441-3050441;G/A missense_variant False MMP24@p.D95Y 1 0.403508772 ENSG00000125966 chr20:35246876-35246876;G/T missense_variant False MMP21@p.T490S 1 0.175 ENSG00000154485 chr10:125766903-125766903;G/C missense_variant False MMP21@p.F519L 1 0.423076923 ENSG00000154485 chr10:125766815-125766815;G/C missense_variant False MMP20@p.W321C 1 0.230769231 ENSG00000137674 chr11:102594748-102594748;C/G missense_variant False MMP20@p.G278E 1 0.371134021 ENSG00000137674 chr11:102606655-102606655;C/T missense_variant False MMP28@p.R119L 1 0.253164557 ENSG00000271447 chr17:35778911-35778911;C/A missense_variant False MMP2@p.C390Y 1 0.415384615 ENSG00000087245 chr16:55489813-55489813;G/A missense_variant False MMP2@p.D185N 1 0.151898734 ENSG00000087245 chr16:55485322-55485322;G/A missense_variant False MMP2@p.G406S 1 0.098039216 ENSG00000087245 chr16:55491836-55491836;G/A missense_variant False MMP2@p.G87V 1 0.057377049 ENSG00000087245 chr16:55483015-55483015;G/T missense_variant False MMP2@p.K429N 1 0.184210526 ENSG00000087245 chr16:55491907-55491907;G/C missense_variant False MMP2@p.K649N 1 0.114427861 ENSG00000087245 chr16:55505406-55505406;G/T missense_variant False MMP2@p.R161Q 1 0.222222222 ENSG00000087245 chr16:55484117-55484117;G/A missense_variant False MMP2@p.R567Q 1 0.142857143 ENSG00000087245 chr16:55498379-55498379;G/A missense_variant False MMP3@p.E305K 1 0.259259259 ENSG00000149968 chr11:102840130-102840130;C/T missense_variant False MMP7@p.R197H 1 0.333333333 ENSG00000137673 chr11:102524959-102524959;C/T missense_variant False MMP8@p.E421Q 1 0.15 ENSG00000118113 chr11:102713787-102713787;C/G missense_variant False MMP8@p.Q258E 1 0.214285714 ENSG00000118113 chr11:102718426-102718426;G/C missense_variant False MMP9@p.F145L 1 0.421052632 ENSG00000100985 chr20:46010546-46010546;C/A missense_variant False MMP9@p.H231P 1 0.321052632 ENSG00000100985 chr20:46011185-46011185;A/C missense_variant False MMP9@p.K566R 1 0.266666667 ENSG00000100985 chr20:46013743-46013743;A/G missense_variant False MMP9@p.R322Q 1 0.09375 ENSG00000100985 chr20:46011715-46011715;G/A missense_variant False MMP20@p.D262N 1 0.102272727 ENSG00000137674 chr11:102608964-102608964;C/T missense_variant False MMP1@p.M160I 1 0.166666667 ENSG00000196611 chr11:102797033-102797033;C/T missense_variant False MMP10@p.R316I 1 0.354166667 ENSG00000166670 chr11:102775307-102775307;C/A missense_variant False MMP13@p.L395V 1 0.09929078 ENSG00000137745 chr11:102947919-102947919;G/C missense_variant False MMP15@p.F433L 1 0.169811321 ENSG00000102996 chr16:58042365-58042365;C/G missense_variant False MMP15@p.E85Q 1 0.4921875 ENSG00000102996 chr16:58037562-58037562;G/C missense_variant False MMP14@p.G331W 1 0.108910891 ENSG00000157227 chr14:22843850-22843850;G/T missense_variant False MMP14@p.E528K 1 0.475 ENSG00000157227 chr14:22845872-22845872;G/A missense_variant False MMP14@p.D252Y 1 0.271186441 ENSG00000157227 chr14:22843322-22843322;G/T missense_variant False MMP13@p.S287F 1 0.254385965 ENSG00000137745 chr11:102950167-102950167;G/A missense_variant False MMP13@p.E33K 1 0.297029703 ENSG00000137745 chr11:102955609-102955609;C/T missense_variant False MMP1@p.H18Y 1 0.571428571 ENSG00000196611 chr11:102798041-102798041;G/A missense_variant False MMP12@p.S370Y 1 0.342105263 ENSG00000262406 chr11:102865872-102865872;G/T missense_variant False MMP12@p.D158N 1 0.448275862 ENSG00000262406 chr11:102871831-102871831;C/T missense_variant False MMP11@p.G258C 1 0.051724138 ENSG00000099953 chr22:23781014-23781014;G/T missense_variant False MMP10@p.S334C 1 0.170212766 ENSG00000166670 chr11:102775253-102775253;G/C missense_variant False MMP10@p.S299T 1 0.048543689 ENSG00000166670 chr11:102776316-102776316;C/G missense_variant False MMP10@p.S299R 1 0.376344086 ENSG00000166670 chr11:102776315-102776315;G/T missense_variant False MMP15@p.Q65E 1 0.258064516 ENSG00000102996 chr16:58037502-58037502;C/G missense_variant False MMP15@p.S81L 1 0.086419753 ENSG00000102996 chr16:58037551-58037551;C/T missense_variant False MMP16@p.A574D 1 0.156716418 ENSG00000156103 chr8:88041564-88041564;G/T missense_variant False MMP16@p.F211L 1 0.158730159 ENSG00000156103 chr8:88167747-88167747;A/G missense_variant False MMP16@p.F384Sfs*44 1 0.441558442 ENSG00000156103 chr8:88074678-88074678;G/- frameshift_variant False MMP16@p.H114Y 1 0.054054054 ENSG00000156103 chr8:88186540-88186540;G/A missense_variant False MMP16@p.Q284H 1 0.148648649 ENSG00000156103 chr8:88118719-88118719;C/A missense_variant False MMP16@p.R589M 1 0.43697479 ENSG00000156103 chr8:88041519-88041519;C/A missense_variant False MMP16@p.S190T 1 0.5 ENSG00000156103 chr8:88167810-88167810;A/T missense_variant False MMP16@p.S524P 1 0.454545455 ENSG00000156103 chr8:88041715-88041715;A/G missense_variant False MMP17@p.D386Y 1 0.272727273 ENSG00000198598 chr12:131845401-131845401;G/T missense_variant False MMP17@p.D480H 1 0.166666667 ENSG00000198598 chr12:131850035-131850035;G/C missense_variant False MMP17@p.E177K 1 0.210526316 ENSG00000198598 chr12:131840679-131840679;G/A missense_variant False MMP17@p.H439Q 1 0.079365079 ENSG00000198598 chr12:131849914-131849914;C/A missense_variant False MMP19@p.L185Q 1 0.272727273 ENSG00000123342 chr12:55839708-55839708;A/T missense_variant False MMP19@p.S430L 1 0.278350515 ENSG00000123342 chr12:55837274-55837274;G/A missense_variant False MMP1@p.D175V 1 0.218181818 ENSG00000196611 chr11:102796765-102796765;T/A missense_variant False MTA2@p.L512V 1 0.047619048 ENSG00000149480 chr11:62595020-62595020;G/C missense_variant False MTA2@p.L651V 1 0.977272727 ENSG00000149480 chr11:62593931-62593931;G/C missense_variant False MTA2@p.R240S 1 0.081818182 ENSG00000149480 chr11:62596799-62596799;C/G missense_variant False MYH13@p.F288L 1 0.481481481 ENSG00000006788 chr17:10354932-10354932;G/C missense_variant False MYH13@p.S647C 1 0.204545455 ENSG00000006788 chr17:10340356-10340356;G/C missense_variant False MYH13@p.Q1815H 1 0.084745763 ENSG00000006788 chr17:10306480-10306480;C/A missense_variant False MYH13@p.N1213S 1 0.476923077 ENSG00000006788 chr17:10318890-10318890;T/C missense_variant False MYH13@p.M1167I 1 0.508474576 ENSG00000006788 chr17:10319027-10319027;C/A missense_variant False MYH13@p.K436N 1 0.490196078 ENSG00000006788 chr17:10345572-10345572;C/A missense_variant False MYH13@p.K1774N 1 0.30952381 ENSG00000006788 chr17:10306603-10306603;C/G missense_variant False MYH13@p.E396K 1 0.175 ENSG00000006788 chr17:10346757-10346757;C/T missense_variant False MYH14@p.D1023H 1 0.448275862 ENSG00000105357 chr19:50271867-50271867;G/C missense_variant False MYH13@p.E1912K 1 0.083333333 ENSG00000006788 chr17:10301637-10301637;C/T missense_variant False MYH13@p.E1887K 1 0.448275862 ENSG00000006788 chr17:10303204-10303204;C/T missense_variant False MYH13@p.E1231K 1 0.259615385 ENSG00000006788 chr17:10318837-10318837;C/T missense_variant False MYH13@p.A1411V 1 0.625 ENSG00000006788 chr17:10312707-10312707;G/A missense_variant False MYH11@p.T772S 1 0.073170732 ENSG00000133392 chr16:15747666-15747666;G/C missense_variant False MYH11@p.S1684Tfs*72 1 0.10989011 ENSG00000133392 chr16:15719616-15719616;C/- frameshift_variant False MYH14@p.A176T 1 0.296610169 ENSG00000105357 chr19:50217735-50217735;G/A missense_variant False MYH14@p.E1034K 1 0.476190476 ENSG00000105357 chr19:50271900-50271900;G/A missense_variant False MX2@p.E189Q 1 0.745454545 ENSG00000183486 chr21:41380139-41380139;G/C missense_variant False MYH15@p.E391Q 1 0.283783784 ENSG00000144821 chr3:108485094-108485094;C/G missense_variant False MYH15@p.R1075W 1 0.118055556 ENSG00000144821 chr3:108437612-108437612;G/A missense_variant False MYH15@p.Q378H 1 0.069767442 ENSG00000144821 chr3:108485131-108485131;C/G missense_variant False MYH15@p.Q301E 1 0.211538462 ENSG00000144821 chr3:108492530-108492530;G/C missense_variant False MYH15@p.M1250I 1 0.186206897 ENSG00000144821 chr3:108428504-108428504;C/G missense_variant False MYH15@p.L529V 1 0.442857143 ENSG00000144821 chr3:108470071-108470071;A/C missense_variant False MYH15@p.E879Q 1 0.536945813 ENSG00000144821 chr3:108444720-108444720;C/G missense_variant False MYH15@p.E1705Q 1 0.287671233 ENSG00000144821 chr3:108398717-108398717;C/G missense_variant False MYH14@p.R1424L 1 0.272727273 ENSG00000105357 chr19:50281697-50281697;G/T missense_variant False MYH15@p.E1698K 1 0.265116279 ENSG00000144821 chr3:108398738-108398738;C/T missense_variant False MYH15@p.E1632Q 1 0.058823529 ENSG00000144821 chr3:108399170-108399170;C/G missense_variant False MYH15@p.E1295K 1 0.348214286 ENSG00000144821 chr3:108421094-108421094;C/T missense_variant False MYH15@p.E1137K 1 0.27480916 ENSG00000144821 chr3:108428845-108428845;C/T missense_variant False MYH14@p.S1969F 1 0.375 ENSG00000105357 chr19:50309708-50309708;C/T missense_variant False MYH14@p.R353W 1 0.215053763 ENSG00000105357 chr19:50232037-50232037;C/T missense_variant False MYH11@p.S1667F 1 0.084615385 ENSG00000133392 chr16:15719667-15719667;G/A missense_variant False MYH11@p.R276K 1 0.13368984 ENSG00000133392 chr16:15776140-15776140;C/T missense_variant False MYH11@p.R1275P 1 0.214814815 ENSG00000133392 chr16:15726882-15726882;C/G missense_variant False MYH10@p.E1251Q 1 0.35 ENSG00000133026 chr17:8499377-8499377;C/G missense_variant False MYH10@p.E52Q 1 0.423312883 ENSG00000133026 chr17:8623093-8623093;C/G missense_variant False MYH10@p.E46Q 1 0.533333333 ENSG00000133026 chr17:8623111-8623111;C/G missense_variant False MYH10@p.E464Q 1 0.382716049 ENSG00000133026 chr17:8545459-8545459;C/G missense_variant False MYH10@p.E1976Q 1 0.703571429 ENSG00000133026 chr17:8475809-8475809;C/G missense_variant False MYH10@p.E1707K 1 0.272727273 ENSG00000133026 chr17:8481374-8481374;C/T missense_variant False MYH10@p.E1577D 1 0.356060606 ENSG00000133026 chr17:8490400-8490400;C/G missense_variant False MYH10@p.E1207Q 1 0.425 ENSG00000133026 chr17:8500858-8500858;C/G missense_variant False MYH11@p.R1241P 1 0.324 ENSG00000133392 chr16:15726984-15726984;C/G missense_variant False MYH10@p.E1184K 1 0.222222222 ENSG00000133026 chr17:8500927-8500927;C/T missense_variant False MYG1@p.L137V 1 0.083333333 ENSG00000139637 chr12:53303113-53303113;C/G missense_variant False MYG1@p.F54L 1 0.32967033 ENSG00000139637 chr12:53299899-53299899;C/G missense_variant False MYF6@p.R217Q 1 0.561983471 ENSG00000111046 chr12:80708881-80708881;G/A missense_variant False MYF6@p.R143W 1 0.420454545 ENSG00000111046 chr12:80708146-80708146;C/T missense_variant False MYF6@p.P43S 1 0.424242424 ENSG00000111046 chr12:80707846-80707846;C/T missense_variant False MYH10@p.E537K 1 0.47826087 ENSG00000133026 chr17:8535898-8535898;C/T missense_variant False MYH10@p.I21M 1 0.14159292 ENSG00000133026 chr17:8623184-8623184;G/C missense_variant False MYH10@p.K129N 1 0.206896552 ENSG00000133026 chr17:8604941-8604941;C/A missense_variant False MYH10@p.M1879I 1 0.117021277 ENSG00000133026 chr17:8477025-8477025;C/T missense_variant False MYH10@p.M909I 1 0.333333333 ENSG00000133026 chr17:8512583-8512583;C/A missense_variant False MYH10@p.Q765H 1 0.518518519 ENSG00000133026 chr17:8518747-8518747;C/G missense_variant False MYH10@p.R1878P 1 0.228070175 ENSG00000133026 chr17:8477029-8477029;C/G missense_variant False MYH10@p.S1209L 1 0.388888889 ENSG00000133026 chr17:8500851-8500851;G/A missense_variant False MYH11@p.D985N 1 0.487179487 ENSG00000133392 chr16:15740095-15740095;C/T missense_variant False MYH11@p.E1185K 1 0.189655172 ENSG00000133392 chr16:15732662-15732662;C/T missense_variant False MYH11@p.E1716Q 1 0.43902439 ENSG00000133392 chr16:15719245-15719245;C/G missense_variant False MYH11@p.E1866K 1 0.12 ENSG00000133392 chr16:15715181-15715181;C/T missense_variant False MYH11@p.E464Q 1 0.102941176 ENSG00000133392 chr16:15759587-15759587;C/G missense_variant False MYH11@p.K1216N 1 0.29 ENSG00000133392 chr16:15732567-15732567;C/G missense_variant False MYH11@p.K594N 1 0.474358974 ENSG00000133392 chr16:15753476-15753476;C/A missense_variant False MYH11@p.L1580F 1 0.507462687 ENSG00000133392 chr16:15720892-15720892;G/A missense_variant False MYH11@p.Q1575Sfs*52 1 0.3125 ENSG00000133392 chr16:15720907-15720907;G/- frameshift_variant False MYH15@p.S1461C 1 0.0625 ENSG00000144821 chr3:108410756-108410756;G/C missense_variant False MYH15@p.V1683M 1 0.066666667 ENSG00000144821 chr3:108398783-108398783;C/T missense_variant False MYH15@p.V701I 1 0.368421053 ENSG00000144821 chr3:108456863-108456863;C/T missense_variant False MYH3@p.Q1917E 1 0.254237288 ENSG00000109063 chr17:10629644-10629644;G/C missense_variant False MYH3@p.S613C 1 0.689189189 ENSG00000109063 chr17:10642467-10642467;G/C missense_variant False MYH3@p.S159C 1 0.166666667 ENSG00000109063 chr17:10651541-10651541;G/C missense_variant False MYH3@p.S112C 1 0.484848485 ENSG00000109063 chr17:10652433-10652433;G/C missense_variant False MYH3@p.R170H 1 0.5 ENSG00000109063 chr17:10650398-10650398;C/T missense_variant False MYH3@p.R1561Q 1 0.470967742 ENSG00000109063 chr17:10632750-10632750;C/T missense_variant False MYH3@p.Q756L 1 0.328571429 ENSG00000109063 chr17:10640585-10640585;T/A missense_variant False MYH3@p.K1924N 1 0.428571429 ENSG00000109063 chr17:10629621-10629621;C/A missense_variant False MYH3@p.D1428N 1 0.585858586 ENSG00000109063 chr17:10634914-10634914;C/T missense_variant False MYH3@p.I815M 1 0.290322581 ENSG00000109063 chr17:10640233-10640233;G/C missense_variant False MYH3@p.H1893Y 1 0.310344828 ENSG00000109063 chr17:10629716-10629716;G/A missense_variant False MYH3@p.F834L 1 0.484848485 ENSG00000109063 chr17:10640176-10640176;G/T missense_variant False MYH3@p.E959K 1 0.696808511 ENSG00000109063 chr17:10639610-10639610;C/T missense_variant False MYH3@p.E1427D 1 0.37037037 ENSG00000109063 chr17:10634915-10634915;C/G missense_variant False MYH3@p.E1321K 1 0.373333333 ENSG00000109063 chr17:10635749-10635749;C/T missense_variant False MYH3@p.T1597I 1 0.578431373 ENSG00000109063 chr17:10632642-10632642;G/A missense_variant False MYH3@p.V587M 1 0.097701149 ENSG00000109063 chr17:10642546-10642546;C/T missense_variant False MYH4@p.D1614E 1 0.568345324 ENSG00000264424 chr17:10447941-10447941;A/T missense_variant False MYH4@p.E1114K 1 0.366666667 ENSG00000264424 chr17:10452424-10452424;C/T missense_variant False MYH4@p.E1549Q 1 0.315789474 ENSG00000264424 chr17:10448407-10448407;C/G missense_variant False MYH4@p.E858D 1 0.367924528 ENSG00000264424 chr17:10454672-10454672;T/G missense_variant False MYH4@p.E985Q 1 0.06870229 ENSG00000264424 chr17:10453310-10453310;C/G missense_variant False MYH4@p.F492L 1 0.28 ENSG00000264424 chr17:10459362-10459362;G/C missense_variant False MYH4@p.F713L 1 0.194444444 ENSG00000264424 chr17:10455651-10455651;A/G missense_variant False MYH4@p.H1498D 1 0.050847458 ENSG00000264424 chr17:10448657-10448657;G/C missense_variant False MYH4@p.K19E 1 0.365079365 ENSG00000264424 chr17:10466691-10466691;T/C missense_variant False MYH4@p.L1059Rfs*4 1 0.461538462 ENSG00000264424 chr17:10452865-10452868;TCCA/- frameshift_variant False MYH4@p.R1849S 1 0.0703125 ENSG00000264424 chr17:10444819-10444819;T/A missense_variant False MYH4@p.S1366C 1 0.926229508 ENSG00000264424 chr17:10450537-10450537;G/C missense_variant False MYH4@p.T1381M 1 0.102040816 ENSG00000264424 chr17:10450492-10450492;G/A missense_variant False MYH6@p.E1403K 1 0.171428571 ENSG00000197616 chr14:23388307-23388307;C/T missense_variant False MYH6@p.E1628Q 1 0.259541985 ENSG00000197616 chr14:23386392-23386392;C/G missense_variant False MYH3@p.E1122D 1 0.555555556 ENSG00000109063 chr17:10638406-10638406;C/G missense_variant False MYH3@p.A1141V 1 0.083333333 ENSG00000109063 chr17:10638350-10638350;G/A missense_variant False MYH1@p.A92V 1 0.353741497 ENSG00000109061 chr17:10516272-10516272;G/A missense_variant False MYH1@p.G319E 1 0.358024691 ENSG00000109061 chr17:10512733-10512733;C/T missense_variant False MYH1@p.S1881F 1 0.505376344 ENSG00000109061 chr17:10494379-10494379;G/A missense_variant False MYH1@p.S1306W 1 0.172727273 ENSG00000109061 chr17:10499041-10499041;G/C missense_variant False MYH1@p.R1272Q 1 0.372340426 ENSG00000109061 chr17:10500676-10500676;C/T missense_variant False MYH1@p.Q76P 1 0.188498403 ENSG00000109061 chr17:10516320-10516320;T/G missense_variant False MYH1@p.L390V 1 0.518046709 ENSG00000109061 chr17:10512172-10512172;G/C missense_variant False MYH1@p.K1923T 1 0.293577982 ENSG00000109061 chr17:10492468-10492468;T/G missense_variant False MYH1@p.E991K 1 0.259067358 ENSG00000109061 chr17:10502878-10502878;C/T missense_variant False MYH2@p.S563C 1 0.069444444 ENSG00000125414 chr17:10537442-10537442;G/C missense_variant False MYH1@p.E950K 1 0.323287671 ENSG00000109061 chr17:10503092-10503092;C/T missense_variant False MYH1@p.E171D 1 0.486486486 ENSG00000109061 chr17:10514888-10514888;C/A missense_variant False MYH1@p.E1493Q 1 0.233333333 ENSG00000109061 chr17:10497341-10497341;C/G missense_variant False MYH1@p.E1470Q 1 0.174603175 ENSG00000109061 chr17:10497410-10497410;C/G missense_variant False MYH1@p.E1287Q 1 0.125 ENSG00000109061 chr17:10500632-10500632;C/G missense_variant False MYH1@p.E1074Q 1 0.227272727 ENSG00000109061 chr17:10501803-10501803;C/G missense_variant False MYH2@p.A1696S 1 0.427083333 ENSG00000125414 chr17:10524555-10524555;C/A missense_variant False MYH2@p.A1842S 1 0.368421053 ENSG00000125414 chr17:10523361-10523361;C/A missense_variant False MYH2@p.D590E 1 0.770642202 ENSG00000125414 chr17:10537360-10537360;G/T missense_variant False MYH2@p.D590Y 1 0.773584906 ENSG00000125414 chr17:10537362-10537362;C/A missense_variant False MYH2@p.E1168K 1 0.086956522 ENSG00000125414 chr17:10528932-10528932;C/T missense_variant False MYH2@p.E1432Q 1 0.27173913 ENSG00000125414 chr17:10525770-10525770;C/G missense_variant False MYH2@p.F122L 1 0.442477876 ENSG00000125414 chr17:10545485-10545485;G/T missense_variant False MYH2@p.F801L 1 0.197080292 ENSG00000125414 chr17:10533323-10533323;G/C missense_variant False MYH2@p.G234S 1 0.512820513 ENSG00000125414 chr17:10543752-10543752;C/T missense_variant False MYH2@p.G467S 1 0.401960784 ENSG00000125414 chr17:10539222-10539222;C/T missense_variant False MYH2@p.H1596D 1 0.267973856 ENSG00000125414 chr17:10524942-10524942;G/C missense_variant False MYH2@p.I1031M 1 0.203592814 ENSG00000125414 chr17:10529588-10529588;G/C missense_variant False MYH2@p.I509M 1 0.073333333 ENSG00000125414 chr17:10537725-10537725;G/C missense_variant False MYH2@p.K1534R 1 0.603773585 ENSG00000125414 chr17:10525285-10525285;T/C missense_variant False MYH2@p.L1033R 1 0.35 ENSG00000125414 chr17:10529583-10529583;A/C missense_variant False MYH2@p.R709C 1 0.2 ENSG00000125414 chr17:10535128-10535128;G/A missense_variant False MYH2@p.S1164L 1 0.405228758 ENSG00000125414 chr17:10528943-10528943;G/A missense_variant False MYF6@p.L100M 1 0.301587302 ENSG00000111046 chr12:80708017-80708017;C/A missense_variant False MYF5@p.S176C 1 0.06557377 ENSG00000111049 chr12:80718383-80718383;C/G missense_variant False MYF5@p.R129H 1 0.352112676 ENSG00000111049 chr12:80717449-80717449;G/A missense_variant False MYBL1@p.G460V 1 0.322033898 ENSG00000185697 chr8:66576098-66576098;C/A missense_variant False MYBL2@p.V172L 1 0.41 ENSG00000101057 chr20:43692170-43692170;G/C missense_variant False MYBL2@p.S454F 1 0.095238095 ENSG00000101057 chr20:43702899-43702899;C/T missense_variant False MYBL2@p.S401C 1 0.246376812 ENSG00000101057 chr20:43702740-43702740;C/G missense_variant False MYBL2@p.R72G 1 0.145907473 ENSG00000101057 chr20:43682821-43682821;A/G missense_variant False MYBL2@p.G686D 1 0.336515513 ENSG00000101057 chr20:43716041-43716041;G/A missense_variant False MYBL1@p.Q399E 1 0.377192982 ENSG00000185697 chr8:66576282-66576282;G/C missense_variant False MYBL1@p.E272D 1 0.194805195 ENSG00000185697 chr8:66592491-66592491;C/G missense_variant False MYB@p.E141Q 1 0.149253731 ENSG00000118513 chr6:135190241-135190241;G/C missense_variant False MYBL1@p.A608P 1 0.216216216 ENSG00000185697 chr8:66566899-66566899;C/G missense_variant False MYBBP1A@p.V395M 1 0.146341463 ENSG00000132382 chr17:4550194-4550194;C/T missense_variant False MYBBP1A@p.N136S 1 0.85 ENSG00000132382 chr17:4554065-4554065;T/C missense_variant False MYBBP1A@p.M70I 1 0.513513514 ENSG00000132382 chr17:4554945-4554945;C/T missense_variant False MYBBP1A@p.G1057C 1 0.225352113 ENSG00000132382 chr17:4541810-4541810;C/A missense_variant False MYB@p.S623F 1 0.119047619 ENSG00000118513 chr6:135217925-135217925;C/T missense_variant False MYBL2@p.V446L 1 0.20952381 ENSG00000101057 chr20:43702874-43702874;G/C missense_variant False MYBPC1@p.A106D 1 0.337209302 ENSG00000196091 chr12:101631673-101631673;C/A missense_variant False MYBPC1@p.D1016N 1 0.290322581 ENSG00000196091 chr12:101677352-101677352;G/A missense_variant False MYBPC1@p.E1131K 1 0.510638298 ENSG00000196091 chr12:101680508-101680508;G/A missense_variant False MYBPC1@p.E126K 1 0.431192661 ENSG00000196091 chr12:101632033-101632033;G/A missense_variant False MYBPC1@p.E247Q 1 0.333333333 ENSG00000196091 chr12:101642567-101642567;G/C missense_variant False MYBPC1@p.G66V 1 0.063829787 ENSG00000196091 chr12:101629527-101629527;G/T missense_variant False MYBPC1@p.K239R 1 0.35 ENSG00000196091 chr12:101642544-101642544;A/G missense_variant False MYBPC1@p.K376N 1 0.212765957 ENSG00000196091 chr12:101649266-101649266;G/C missense_variant False MYBPC1@p.L723F 1 0.117647059 ENSG00000196091 chr12:101663446-101663446;C/T missense_variant False MYBPC1@p.L950V 1 0.288135593 ENSG00000196091 chr12:101675351-101675351;C/G missense_variant False MYBPC1@p.V69A 1 0.272727273 ENSG00000196091 chr12:101629536-101629536;T/C missense_variant False MYBPC1@p.Y849C 1 0.358208955 ENSG00000196091 chr12:101670363-101670363;A/G missense_variant False MYBPC2@p.E137Q 1 0.167741935 ENSG00000086967 chr19:50436680-50436680;G/C missense_variant False MYBPC2@p.G999C 1 0.24 ENSG00000086967 chr19:50461605-50461605;G/T missense_variant False MYBPC2@p.I618M 1 0.466666667 ENSG00000086967 chr19:50454124-50454124;C/G missense_variant False MYBPC2@p.R479Q 1 0.117647059 ENSG00000086967 chr19:50448354-50448354;G/A missense_variant False MYB@p.I526S 1 0.5 ENSG00000118513 chr6:135200405-135200405;T/G missense_variant False MYADM@p.F143del 1 0.170212766 ENSG00000179820 chr19:53873952-53873954;CTT/- inframe_deletion False MYBPC3@p.E843Q 1 0.25 ENSG00000134571 chr11:47337466-47337466;C/G missense_variant False MXD4@p.D85N 1 0.181818182 ENSG00000123933 chr4:2252464-2252464;C/T missense_variant False MXRA5@p.K1411E 1 0.507936508 ENSG00000101825 chrX:3321454-3321454;T/C missense_variant False MXRA5@p.G2161V 1 0.55 ENSG00000101825 chrX:3317199-3317199;C/A missense_variant False MXRA5@p.G1389R 1 0.652173913 ENSG00000101825 chrX:3321520-3321520;C/T missense_variant False MXRA5@p.D1020N 1 0.271604938 ENSG00000101825 chrX:3322627-3322627;C/T missense_variant False MXRA5@p.A523G 1 0.5 ENSG00000101825 chrX:3324117-3324117;G/C missense_variant False MXD4@p.R129C 1 0.444444444 ENSG00000123933 chr4:2251171-2251171;G/A missense_variant False MXD1@p.S155C 1 0.3125 ENSG00000059728 chr2:69937380-69937380;C/G missense_variant False MXRA8@p.S113W 1 0.6 ENSG00000162576 chr1:1355488-1355488;G/C missense_variant False MXD1@p.G137S 1 0.298701299 ENSG00000059728 chr2:69937325-69937325;G/A missense_variant False MXD1@p.E167Q 1 0.177777778 ENSG00000059728 chr2:69938117-69938117;G/C missense_variant False MX2@p.R674C 1 0.185714286 ENSG00000183486 chr21:41408105-41408105;C/T missense_variant False MX2@p.M26I 1 0.064516129 ENSG00000183486 chr21:41376984-41376984;G/A missense_variant False MX2@p.K161Q 1 0.201923077 ENSG00000183486 chr21:41380055-41380055;A/C missense_variant False MX2@p.E625K 1 0.511363636 ENSG00000183486 chr21:41406966-41406966;G/A missense_variant False MXRA5@p.L1313F 1 0.910447761 ENSG00000101825 chrX:3321748-3321748;G/A missense_variant False MXRA5@p.L332S 1 0.294117647 ENSG00000101825 chrX:3324690-3324690;A/G missense_variant False MXRA5@p.L380F 1 0.410714286 ENSG00000101825 chrX:3324545-3324545;C/G missense_variant False MXRA5@p.L813F 1 0.75 ENSG00000101825 chrX:3323246-3323246;C/G missense_variant False MXRA5@p.N775K 1 0.607594937 ENSG00000101825 chrX:3323360-3323360;G/C missense_variant False MXRA5@p.Q1604E 1 0.323076923 ENSG00000101825 chrX:3320875-3320875;G/C missense_variant False MXRA5@p.Q461E 1 0.805084746 ENSG00000101825 chrX:3324304-3324304;G/C missense_variant False MXRA5@p.R59I 1 0.956521739 ENSG00000101825 chrX:3343658-3343658;C/A missense_variant False MXRA5@p.S1668L 1 0.534246575 ENSG00000101825 chrX:3320682-3320682;G/A missense_variant False MXRA5@p.T1320S 1 0.157894737 ENSG00000101825 chrX:3321727-3321727;T/A missense_variant False MXRA5@p.T1459I 1 0.546666667 ENSG00000101825 chrX:3321309-3321309;G/A missense_variant False MXRA5@p.T1737S 1 0.452830189 ENSG00000101825 chrX:3320475-3320475;G/C missense_variant False MXRA5@p.T2308I 1 0.418918919 ENSG00000101825 chrX:3311280-3311280;G/A missense_variant False MXRA5@p.T923A 1 0.125 ENSG00000101825 chrX:3322918-3322918;T/C missense_variant False MXRA7@p.E133K 1 0.195121951 ENSG00000182534 chr17:76688122-76688122;C/T missense_variant False MXRA7@p.E189K 1 0.159574468 ENSG00000182534 chr17:76677638-76677638;C/T missense_variant False MXRA8@p.E148K 1 0.258064516 ENSG00000162576 chr1:1355280-1355280;C/T missense_variant False MYBPC2@p.R793P 1 0.529411765 ENSG00000086967 chr19:50458626-50458626;G/C missense_variant False MYBPC3@p.H831Y 1 0.375 ENSG00000134571 chr11:47337502-47337502;G/A missense_variant False MYF5@p.P232L 1 0.247619048 ENSG00000111049 chr12:80718978-80718978;C/T missense_variant False MYCBPAP@p.S8F 1 0.170731707 ENSG00000136449 chr17:50508697-50508697;C/T missense_variant False MYCN@p.E185Q 1 0.227272727 ENSG00000134323 chr2:15942617-15942617;G/C missense_variant False MYCN@p.E124K 1 0.527777778 ENSG00000134323 chr2:15942434-15942434;G/A missense_variant False MYCL@p.R357T 1 0.25 ENSG00000116990 chr1:39897397-39897397;C/G missense_variant False MYCL@p.R345T 1 0.258823529 ENSG00000116990 chr1:39897433-39897433;C/G missense_variant False MYCL@p.P233S 1 0.194029851 ENSG00000116990 chr1:39897770-39897770;G/A missense_variant False MYCL@p.E278K 1 0.330357143 ENSG00000116990 chr1:39897635-39897635;C/T missense_variant False MYCBPAP@p.S639C 1 0.303867403 ENSG00000136449 chr17:50526014-50526014;C/G missense_variant False MYCBP2@p.S4541C 1 0.428571429 ENSG00000005810 chr13:77051830-77051830;G/C missense_variant False MYCBPAP@p.S390C 1 0.289719626 ENSG00000136449 chr17:50521993-50521993;C/G missense_variant False MYCBPAP@p.S377C 1 0.214285714 ENSG00000136449 chr17:50521413-50521413;C/G missense_variant False MYCBPAP@p.R412K 1 0.580645161 ENSG00000136449 chr17:50522059-50522059;G/A missense_variant False MYCBPAP@p.R321W 1 0.305555556 ENSG00000136449 chr17:50521154-50521154;C/T missense_variant False MYCBPAP@p.P250T 1 0.089552239 ENSG00000136449 chr17:50519069-50519069;C/A missense_variant False MYCBPAP@p.E620K 1 0.043165468 ENSG00000136449 chr17:50525956-50525956;G/A missense_variant False MYCN@p.E20Q 1 0.12 ENSG00000134323 chr2:15942122-15942122;G/C missense_variant False MYCN@p.E436K 1 0.287804878 ENSG00000134323 chr2:15946008-15946008;G/A missense_variant False MYCN@p.E47Gfs*8 1 0.175 ENSG00000134323 chr2:15942191-15942192;-/C frameshift_variant False MYCN@p.I49M 1 0.095238095 ENSG00000134323 chr2:15942211-15942211;C/G missense_variant False MYCT1@p.L142V 1 0.180555556 ENSG00000120279 chr6:152721969-152721969;C/G missense_variant False MYCT1@p.Q183K 1 0.34375 ENSG00000120279 chr6:152722092-152722092;C/A missense_variant False MYD88@p.A11T 1 0.15625 ENSG00000172936 chr3:38138731-38138731;G/A missense_variant True MYEF2@p.G370Vfs*5 1 0.2 ENSG00000104177 chr15:48152263-48152263;C/- frameshift_variant False MYEF2@p.K586T 1 0.341463415 ENSG00000104177 chr15:48142954-48142954;T/G missense_variant False MYEF2@p.L119I 1 0.3 ENSG00000104177 chr15:48168646-48168646;G/T missense_variant False MYEF2@p.M452I 1 0.131578947 ENSG00000104177 chr15:48151122-48151122;C/T missense_variant False MYEF2@p.R486K 1 0.246376812 ENSG00000104177 chr15:48149293-48149293;C/T missense_variant False MYEOV@p.G104Vfs*106 1 0.204081633 ENSG00000172927 chr11:69295760-69295790;GGTGACCGGGAGAGAAACAAGGGAGACAAGG/- frameshift_variant False MYEOV@p.R204P 1 0.799196787 ENSG00000172927 chr11:69296061-69296061;G/C missense_variant False MYF5@p.A245V 1 0.14084507 ENSG00000111049 chr12:80719017-80719017;C/T missense_variant False MYF5@p.E45Q 1 0.290909091 ENSG00000111049 chr12:80717196-80717196;G/C missense_variant False MYF5@p.K198E 1 0.368421053 ENSG00000111049 chr12:80718875-80718875;A/G missense_variant False MYCBP2@p.T4093A 1 0.494949495 ENSG00000005810 chr13:77067645-77067645;T/C missense_variant False MYCBP2@p.S4038I 1 0.367088608 ENSG00000005810 chr13:77067809-77067809;C/A missense_variant False MYBPC3@p.R817G 1 0.175438596 ENSG00000134571 chr11:47337544-47337544;G/C missense_variant False MYCBP2@p.D1896G 1 0.142857143 ENSG00000005810 chr13:77169708-77169708;T/C missense_variant False MYCBP2@p.E403K 1 0.094736842 ENSG00000005810 chr13:77267877-77267877;C/T missense_variant False MYCBP2@p.E2108K 1 0.115942029 ENSG00000005810 chr13:77165296-77165296;C/T missense_variant False MYCBP2@p.E1986Q 1 0.4125 ENSG00000005810 chr13:77168472-77168472;C/G missense_variant False MYCBP2@p.D751N 1 0.265625 ENSG00000005810 chr13:77251167-77251167;C/T missense_variant False MYCBP2@p.D3909H 1 0.353383459 ENSG00000005810 chr13:77070696-77070696;C/G missense_variant False MYCBP2@p.D2151H 1 0.152777778 ENSG00000005810 chr13:77161938-77161938;C/G missense_variant False MYCBP2@p.D1773N 1 0.225806452 ENSG00000005810 chr13:77176538-77176538;C/T missense_variant False MYCBP2@p.S3440L 1 0.161290323 ENSG00000005810 chr13:77090198-77090198;G/A missense_variant False MYCBP2@p.D1528N 1 0.125 ENSG00000005810 chr13:77185126-77185126;C/T missense_variant False MYCBP2@p.C4440W 1 0.162162162 ENSG00000005810 chr13:77056989-77056989;G/C missense_variant False MYC@p.S139W 1 0.236842105 ENSG00000136997 chr8:127738678-127738678;C/G missense_variant False MYC@p.F7L 1 0.326732673 ENSG00000136997 chr8:127738283-127738283;C/A missense_variant False MYBPH@p.S432C 1 0.073770492 ENSG00000133055 chr1:203169028-203169028;G/C missense_variant False MYBPH@p.H360Rfs*55 1 0.15625 ENSG00000133055 chr1:203170300-203170306;GGATGTG/- frameshift_variant False MYCBP2@p.F1646L 1 0.096774194 ENSG00000005810 chr13:77180208-77180208;G/C missense_variant False MYCBP2@p.H3656Y 1 0.413793103 ENSG00000005810 chr13:77081950-77081950;G/A missense_variant False MYCBP2@p.I156M 1 0.12987013 ENSG00000005810 chr13:77288173-77288173;G/C missense_variant False MYCBP2@p.K135N 1 0.459119497 ENSG00000005810 chr13:77288236-77288236;C/G missense_variant False MYCBP2@p.K3780R 1 0.353658537 ENSG00000005810 chr13:77078855-77078855;T/C missense_variant False MYCBP2@p.K722Q 1 0.395348837 ENSG00000005810 chr13:77251254-77251254;T/G missense_variant False MYCBP2@p.L1229F 1 0.115384615 ENSG00000005810 chr13:77205300-77205300;G/A missense_variant False MYCBP2@p.L2812V 1 0.061538462 ENSG00000005810 chr13:77098606-77098606;G/C missense_variant False MYCBP2@p.L2854F 1 0.457142857 ENSG00000005810 chr13:77098478-77098478;C/G missense_variant False MYCBP2@p.L3861M 1 0.180327869 ENSG00000005810 chr13:77077177-77077177;G/T missense_variant False MYCBP2@p.M3914T 1 0.208333333 ENSG00000005810 chr13:77070680-77070680;A/G missense_variant False MYCBP2@p.P846S 1 0.459183673 ENSG00000005810 chr13:77233243-77233243;G/A missense_variant False MYCBP2@p.Q1022K 1 0.072463768 ENSG00000005810 chr13:77212040-77212040;G/T missense_variant False MYCBP2@p.Q2291E 1 0.274853801 ENSG00000005810 chr13:77150880-77150880;G/C missense_variant False MYCBP2@p.R3266K 1 0.382113821 ENSG00000005810 chr13:77096355-77096355;C/T missense_variant False MYCBP2@p.R4035C 1 0.409836066 ENSG00000005810 chr13:77067819-77067819;G/A missense_variant False MYCBP2@p.S1904F 1 0.211111111 ENSG00000005810 chr13:77169684-77169684;G/A missense_variant False MYH6@p.E297Q 1 0.413294798 ENSG00000197616 chr14:23403357-23403357;C/G missense_variant False MYH6@p.E508Q 1 0.297101449 ENSG00000197616 chr14:23400315-23400315;C/G missense_variant False MYH6@p.E857Q 1 0.227272727 ENSG00000197616 chr14:23394184-23394184;C/G missense_variant False MYO18B@p.S617L 1 0.433333333 ENSG00000133454 chr22:25772491-25772491;C/T missense_variant False MYO19@p.P422S 1 0.2 ENSG00000278259 chr17:36507892-36507892;G/A missense_variant False MYO19@p.G691A 1 0.466292135 ENSG00000278259 chr17:36503105-36503105;C/G missense_variant False MYO19@p.E268K 1 0.177777778 ENSG00000278259 chr17:36513644-36513644;C/T missense_variant False MYO19@p.D727N 1 0.151162791 ENSG00000278259 chr17:36501137-36501137;C/T missense_variant False MYO18B@p.Y1096D 1 0.094594595 ENSG00000133454 chr22:25843812-25843812;T/G missense_variant False MYO18B@p.V1459M 1 0.150943396 ENSG00000133454 chr22:25890816-25890816;G/A missense_variant False MYO18B@p.S2119Y 1 0.179487179 ENSG00000133454 chr22:26004741-26004741;C/A missense_variant False MYO18B@p.A1447T 1 0.73 ENSG00000133454 chr22:25890780-25890780;G/A missense_variant False MYO18B@p.R2384M 1 0.463087248 ENSG00000133454 chr22:26027125-26027125;G/T missense_variant False MYO18B@p.R1271Q 1 0.545454545 ENSG00000133454 chr22:25851506-25851506;G/A missense_variant False MYO18B@p.Q735E 1 0.214285714 ENSG00000133454 chr22:25780190-25780190;C/G missense_variant False MYO18B@p.L891I 1 0.459649123 ENSG00000133454 chr22:25823654-25823654;C/A missense_variant False MYO18B@p.E574K 1 0.357142857 ENSG00000133454 chr22:25772361-25772361;G/A missense_variant False MYO18B@p.E257Q 1 0.40625 ENSG00000133454 chr22:25768685-25768685;G/C missense_variant False MYO19@p.P572A 1 0.397435897 ENSG00000278259 chr17:36506539-36506539;G/C missense_variant False MYO19@p.R663Q 1 0.380368098 ENSG00000278259 chr17:36503189-36503189;C/T missense_variant False MYO19@p.S86L 1 0.15 ENSG00000278259 chr17:36527594-36527594;G/A missense_variant False MYO1A@p.A208E 1 0.096385542 ENSG00000166866 chr12:57046569-57046569;G/T missense_variant False MYO1A@p.A572S 1 0.413793103 ENSG00000166866 chr12:57038458-57038458;C/A missense_variant False MYO1A@p.E195K 1 0.291666667 ENSG00000166866 chr12:57046609-57046609;C/T missense_variant False MYO1A@p.E363K 1 0.655172414 ENSG00000166866 chr12:57043083-57043083;C/T missense_variant False MYO1A@p.F567I 1 0.580645161 ENSG00000166866 chr12:57038473-57038473;A/T missense_variant False MYO1A@p.K857R 1 0.348484848 ENSG00000166866 chr12:57030231-57030231;T/C missense_variant False MYO1A@p.L308F 1 0.618055556 ENSG00000166866 chr12:57043327-57043327;C/G missense_variant False MYO1A@p.Q203E 1 0.130434783 ENSG00000166866 chr12:57046585-57046585;G/C missense_variant False MYO1A@p.R755T 1 0.293838863 ENSG00000166866 chr12:57036782-57036782;C/G missense_variant False MYO1A@p.S911F 1 0.186666667 ENSG00000166866 chr12:57029580-57029580;G/A missense_variant False MYO1A@p.S962L 1 0.237410072 ENSG00000166866 chr12:57029252-57029252;G/A missense_variant False MYO1B@p.E285K 1 0.295081967 ENSG00000128641 chr2:191363815-191363815;G/A missense_variant False MYO1B@p.E884K 1 0.218181818 ENSG00000128641 chr2:191409062-191409062;G/A missense_variant False MYO1B@p.F1110C 1 0.78125 ENSG00000128641 chr2:191423878-191423878;T/G missense_variant False MYO18B@p.A640S 1 0.181818182 ENSG00000133454 chr22:25777631-25777631;G/T missense_variant False MYO18A@p.T943Afs*107 1 0.3 ENSG00000196535 chr17:29111490-29111497;CAGCCAGT/- frameshift_variant False MYO1B@p.L534V 1 0.36 ENSG00000128641 chr2:191387269-191387269;C/G missense_variant False MYO15A@p.R1754H 1 0.215384615 ENSG00000091536 chr17:18140566-18140566;G/A missense_variant False MYO16@p.E35D 1 0.338983051 ENSG00000041515 chr13:108666028-108666028;G/T missense_variant False MYO16@p.E236D 1 0.071428571 ENSG00000041515 chr13:108806711-108806711;G/C missense_variant False MYO16@p.E1792Q 1 0.14516129 ENSG00000041515 chr13:109206633-109206633;G/C missense_variant False MYO16@p.D4N 1 0.12244898 ENSG00000041515 chr13:108665933-108665933;G/A missense_variant False MYO16@p.D1012H 1 0.136363636 ENSG00000041515 chr13:109055097-109055097;G/C missense_variant False MYO15A@p.S2327L 1 0.296296296 ENSG00000091536 chr17:18149239-18149239;C/T missense_variant False MYO15A@p.Q1632H 1 0.140449438 ENSG00000091536 chr17:18138135-18138135;G/C missense_variant False MYO18A@p.T228A 1 0.375 ENSG00000196535 chr17:29166259-29166259;T/C missense_variant False MYO15A@p.Q1422H 1 0.15 ENSG00000091536 chr17:18132512-18132512;G/C missense_variant False MYO15A@p.Q1070H 1 0.224299065 ENSG00000091536 chr17:18122010-18122010;G/C missense_variant False MYO15A@p.P424L 1 0.342857143 ENSG00000091536 chr17:18120071-18120071;C/T missense_variant False MYO15A@p.P419S 1 0.272727273 ENSG00000091536 chr17:18120055-18120055;C/T missense_variant False MYO15A@p.P319L 1 0.342465753 ENSG00000091536 chr17:18119756-18119756;C/T missense_variant False MYO15A@p.M90I 1 0.727272727 ENSG00000091536 chr17:18119070-18119070;G/T missense_variant False MYO16@p.E420K 1 0.535714286 ENSG00000041515 chr13:108855518-108855518;G/A missense_variant False MYO16@p.E75Q 1 0.115384615 ENSG00000041515 chr13:108666146-108666146;G/C missense_variant False MYO16@p.F751L 1 0.105263158 ENSG00000041515 chr13:108964850-108964850;T/C missense_variant False MYO16@p.I1158M 1 0.28358209 ENSG00000041515 chr13:109125116-109125116;C/G missense_variant False MYO16@p.K1033N 1 0.433333333 ENSG00000041515 chr13:109055425-109055425;G/T missense_variant False MYO16@p.K1834T 1 0.428571429 ENSG00000041515 chr13:109206760-109206760;A/C missense_variant False MYO16@p.L588V 1 0.171717172 ENSG00000041515 chr13:108910053-108910053;C/G missense_variant False MYO16@p.N833D 1 0.07027027 ENSG00000041515 chr13:109009017-109009017;A/G missense_variant False MYO16@p.P1657R 1 0.538461538 ENSG00000041515 chr13:109141248-109141248;C/G missense_variant False MYO16@p.P471A 1 0.098214286 ENSG00000041515 chr13:108883110-108883110;C/G missense_variant False MYO16@p.R1007I 1 0.194029851 ENSG00000041515 chr13:109055083-109055083;G/T missense_variant False MYO16@p.S1085L 1 0.161904762 ENSG00000041515 chr13:109055580-109055580;C/T missense_variant False MYO18A@p.A887T 1 0.294117647 ENSG00000196535 chr17:29111803-29111803;C/T missense_variant False MYO18A@p.E1052K 1 0.272727273 ENSG00000196535 chr17:29110035-29110035;C/T missense_variant False MYO18A@p.E1306Q 1 0.104166667 ENSG00000196535 chr17:29098179-29098179;C/G missense_variant False MYO18A@p.K1656N 1 0.269230769 ENSG00000196535 chr17:29092960-29092960;C/G missense_variant False MYO18A@p.S52F 1 0.388888889 ENSG00000196535 chr17:29166786-29166786;G/A missense_variant False MYO1B@p.G113E 1 0.110344828 ENSG00000128641 chr2:191330021-191330021;G/A missense_variant False MYO1B@p.P956L 1 0.183333333 ENSG00000128641 chr2:191411166-191411166;C/T missense_variant False MYO15A@p.G2938A 1 0.454545455 ENSG00000091536 chr17:18157746-18157746;G/C missense_variant False MYO3A@p.E1585D 1 0.121621622 ENSG00000095777 chr10:26211867-26211867;G/C missense_variant False MYO3A@p.L1393F 1 0.132075472 ENSG00000095777 chr10:26174443-26174443;G/T missense_variant False MYO3A@p.K325T 1 0.127272727 ENSG00000095777 chr10:26066995-26066995;A/C missense_variant False MYO3A@p.K1232Q 1 0.215686275 ENSG00000095777 chr10:26173958-26173958;A/C missense_variant False MYO3A@p.G834A 1 0.302631579 ENSG00000095777 chr10:26145530-26145530;G/C missense_variant False MYO3A@p.E793Q 1 0.514851485 ENSG00000095777 chr10:26143562-26143562;G/C missense_variant False MYO3A@p.E25V 1 0.072 ENSG00000095777 chr10:25952184-25952184;A/T missense_variant False MYO3A@p.D717H 1 0.166666667 ENSG00000095777 chr10:26128425-26128425;G/C missense_variant False MYO1G@p.F201L 1 0.033816425 ENSG00000136286 chr7:44975189-44975189;G/T missense_variant False MYO3A@p.D262N 1 0.207142857 ENSG00000095777 chr10:26024074-26024074;G/A missense_variant False MYO3A@p.D1347H 1 0.086419753 ENSG00000095777 chr10:26174303-26174303;G/C missense_variant False MYO1H@p.R764K 1 0.368421053 ENSG00000174527 chr12:109438617-109438617;G/A missense_variant False MYO1H@p.R359T 1 0.1875 ENSG00000174527 chr12:109407834-109407834;G/C missense_variant False MYO1H@p.C348S 1 0.272727273 ENSG00000174527 chr12:109407800-109407800;T/A missense_variant False MYO1G@p.R826C 1 0.1375 ENSG00000136286 chr7:44964995-44964995;G/A missense_variant False MYO3A@p.N456S 1 0.442622951 ENSG00000095777 chr10:26088210-26088210;A/G missense_variant False MYO3A@p.Q1568H 1 0.421052632 ENSG00000095777 chr10:26203081-26203081;G/T missense_variant False MYO3A@p.R515L 1 0.595238095 ENSG00000095777 chr10:26088387-26088387;G/T missense_variant False MYO3A@p.T1381A 1 0.115044248 ENSG00000095777 chr10:26174405-26174405;A/G missense_variant False MYO3A@p.T1381I 1 0.379562044 ENSG00000095777 chr10:26174406-26174406;C/T missense_variant False MYO3B@p.A1207T 1 0.11627907 ENSG00000071909 chr2:170542949-170542949;G/A missense_variant False MYO3B@p.A712S 1 0.167883212 ENSG00000071909 chr2:170402852-170402852;G/T missense_variant False MYO3B@p.L121V 1 0.486956522 ENSG00000071909 chr2:170214418-170214418;C/G missense_variant False MYO3B@p.L464F 1 0.093023256 ENSG00000071909 chr2:170387123-170387123;G/T missense_variant False MYO3B@p.L644M 1 0.096774194 ENSG00000071909 chr2:170401492-170401492;C/A missense_variant False MYO3B@p.M90I 1 0.133333333 ENSG00000071909 chr2:170200233-170200233;G/A missense_variant False MYO3B@p.P902S 1 0.076923077 ENSG00000071909 chr2:170444020-170444020;C/T missense_variant False MYO3B@p.Q625E 1 0.129032258 ENSG00000071909 chr2:170400269-170400269;C/G missense_variant False MYO3B@p.R1082S 1 0.210526316 ENSG00000071909 chr2:170499765-170499765;G/C missense_variant False MYO3B@p.R989H 1 0.104651163 ENSG00000071909 chr2:170466663-170466663;G/A missense_variant False MYO5A@p.E1200K 1 0.08 ENSG00000197535 chr15:52353628-52353628;C/T missense_variant False MYO5A@p.E164Q 1 0.194029851 ENSG00000197535 chr15:52416267-52416267;C/G missense_variant False MYO1G@p.I424M 1 0.228571429 ENSG00000136286 chr7:44970100-44970100;G/C missense_variant False MYO1G@p.E130K 1 0.328947368 ENSG00000136286 chr7:44976574-44976574;C/T missense_variant False MYO1B@p.R644T 1 0.218390805 ENSG00000128641 chr2:191390441-191390441;G/C missense_variant False MYO1D@p.G1005W 1 0.25 ENSG00000176658 chr17:32494767-32494767;C/A missense_variant False MYO1E@p.F777L 1 0.626506024 ENSG00000157483 chr15:59173749-59173749;G/C missense_variant False MYO1E@p.E838K 1 0.098039216 ENSG00000157483 chr15:59163272-59163272;C/T missense_variant False MYO1D@p.R754Q 1 0.23255814 ENSG00000176658 chr17:32659199-32659199;C/T missense_variant False MYO1D@p.R620T 1 0.077625571 ENSG00000176658 chr17:32721077-32721077;C/G missense_variant False MYO1D@p.R504Q 1 0.41 ENSG00000176658 chr17:32748963-32748963;C/T missense_variant False MYO1D@p.G757V 1 0.198347107 ENSG00000176658 chr17:32659190-32659190;C/A missense_variant False MYO1D@p.E556Q 1 0.080645161 ENSG00000176658 chr17:32738333-32738333;C/G missense_variant False MYO1G@p.A790T 1 0.4375 ENSG00000136286 chr7:44965650-44965650;C/T missense_variant False MYO1C@p.R166H 1 0.301886792 ENSG00000197879 chr17:1482910-1482910;C/T missense_variant False MYO1C@p.Q939R 1 0.169230769 ENSG00000197879 chr17:1468068-1468068;T/C missense_variant False MYO1C@p.L53M 1 0.153846154 ENSG00000197879 chr17:1484222-1484222;G/T missense_variant False MYO1C@p.D630V 1 0.058823529 ENSG00000197879 chr17:1472137-1472137;T/A missense_variant False MYO1C@p.A729V 1 0.29787234 ENSG00000197879 chr17:1471097-1471097;G/A missense_variant False MYO1B@p.R688P 1 0.208333333 ENSG00000128641 chr2:191392188-191392188;G/C missense_variant False MYO1E@p.G1041del 1 0.202702703 ENSG00000157483 chr15:59138326-59138328;CCC/- inframe_deletion False MYO1E@p.G747R 1 0.226720648 ENSG00000157483 chr15:59173841-59173841;C/G missense_variant False MYO1E@p.K1019N 1 0.30952381 ENSG00000157483 chr15:59153613-59153613;C/A missense_variant False MYO1E@p.L727F 1 0.417266187 ENSG00000157483 chr15:59173899-59173899;C/G missense_variant False MYO1E@p.M690I 1 0.113924051 ENSG00000157483 chr15:59174220-59174220;C/T missense_variant False MYO1E@p.Q1065R 1 0.212598425 ENSG00000157483 chr15:59138254-59138254;T/C missense_variant False MYO1E@p.R1094Q 1 0.261904762 ENSG00000157483 chr15:59137426-59137426;C/T missense_variant False MYO1F@p.D68N 1 0.228070175 ENSG00000142347 chr19:8554683-8554683;C/T missense_variant False MYO1F@p.E1066K 1 0.265306122 ENSG00000142347 chr19:8522401-8522401;C/T missense_variant False MYO1F@p.E152K 1 0.25974026 ENSG00000142347 chr19:8553189-8553189;C/T missense_variant False MYO1F@p.E518D 1 0.081395349 ENSG00000142347 chr19:8541962-8541962;C/G missense_variant False MYO1F@p.F190L 1 0.390243902 ENSG00000142347 chr19:8552099-8552099;G/T missense_variant False MYO1F@p.P84L 1 0.140350877 ENSG00000142347 chr19:8554552-8554552;G/A missense_variant False MYO1F@p.Q477H 1 0.263157895 ENSG00000142347 chr19:8544390-8544390;C/G missense_variant False MYO1F@p.Q481H 1 0.2 ENSG00000142347 chr19:8544378-8544378;C/G missense_variant False MYO1F@p.R963T 1 0.285714286 ENSG00000142347 chr19:8522796-8522796;C/G missense_variant False MYO1F@p.Y80C 1 0.294117647 ENSG00000142347 chr19:8554564-8554564;T/C missense_variant False MYO15A@p.L3520I 1 0.277777778 ENSG00000091536 chr17:18178835-18178835;C/A missense_variant False MYO15A@p.F1529L 1 0.181818182 ENSG00000091536 chr17:18135815-18135815;C/G missense_variant False MYH6@p.K1318N 1 0.107784431 ENSG00000197616 chr14:23389417-23389417;T/G missense_variant False MYH8@p.H756Y 1 0.36 ENSG00000133020 chr17:10406303-10406303;G/A missense_variant False MYH8@p.S1513C 1 0.333333333 ENSG00000133020 chr17:10396445-10396445;G/C missense_variant False MYH8@p.N1569Y 1 0.252873563 ENSG00000133020 chr17:10395390-10395390;T/A missense_variant False MYH8@p.L1865F 1 0.462365591 ENSG00000133020 chr17:10391953-10391953;G/A missense_variant False MYH8@p.L169F 1 0.148717949 ENSG00000133020 chr17:10418649-10418649;C/G missense_variant False MYH8@p.I288T 1 0.238095238 ENSG00000133020 chr17:10414427-10414427;A/G missense_variant False MYH8@p.I1125M 1 0.307692308 ENSG00000133020 chr17:10400750-10400750;G/C missense_variant False MYH8@p.G774C 1 0.25 ENSG00000133020 chr17:10406153-10406153;C/A missense_variant False MYH7B@p.M349I 1 0.444444444 ENSG00000078814 chr20:34986905-34986905;G/A missense_variant False MYH8@p.E1641K 1 0.107317073 ENSG00000133020 chr17:10395174-10395174;C/T missense_variant False MYH8@p.C708W 1 0.237113402 ENSG00000133020 chr17:10406737-10406737;A/C missense_variant False MYH8@p.A1909V 1 0.084577114 ENSG00000133020 chr17:10390542-10390542;G/A missense_variant False MYH8@p.A1909P 1 0.080808081 ENSG00000133020 chr17:10390543-10390543;C/G missense_variant False MYH7B@p.R547Tfs*96 1 0.204301075 ENSG00000078814 chr20:34988190-34988202;GCGGGAGGGCATC/- frameshift_variant False MYH7B@p.R187H 1 0.183544304 ENSG00000078814 chr20:34980672-34980672;G/A missense_variant False MYH8@p.T1724N 1 0.459459459 ENSG00000133020 chr17:10393206-10393206;G/T missense_variant False MYH9@p.A1554V 1 0.054878049 ENSG00000100345 chr22:36288836-36288836;G/A missense_variant False MYH9@p.D1424N 1 0.404255319 ENSG00000100345 chr22:36292060-36292060;C/T missense_variant False MYH9@p.D1655H 1 0.0703125 ENSG00000100345 chr22:36286816-36286816;C/G missense_variant False MYH9@p.D1760Y 1 0.413793103 ENSG00000100345 chr22:36285326-36285326;C/A missense_variant False MYH9@p.D1765N 1 0.227513228 ENSG00000100345 chr22:36285311-36285311;C/T missense_variant False MYH9@p.D37H 1 0.411764706 ENSG00000100345 chr22:36349128-36349128;C/G missense_variant False MYH9@p.D384N 1 0.152173913 ENSG00000100345 chr22:36318284-36318284;C/T missense_variant False MYH9@p.D750H 1 0.807692308 ENSG00000100345 chr22:36304137-36304137;C/G missense_variant False MYH9@p.E1003K 1 0.77173913 ENSG00000100345 chr22:36299012-36299012;C/T missense_variant False MYH9@p.E1131Q 1 0.2 ENSG00000100345 chr22:36295599-36295599;C/G missense_variant False MYH9@p.E1347K 1 0.224137931 ENSG00000100345 chr22:36293385-36293385;C/T missense_variant False MYH9@p.E1769D 1 0.308219178 ENSG00000100345 chr22:36285297-36285297;C/A missense_variant False MYH9@p.E1884Q 1 0.090909091 ENSG00000100345 chr22:36284208-36284208;C/G missense_variant False MYH9@p.E208K 1 0.320754717 ENSG00000100345 chr22:36322512-36322512;C/T missense_variant False MYH9@p.E255K 1 0.196969697 ENSG00000100345 chr22:36321764-36321764;C/T missense_variant False MYH9@p.E490D 1 0.05511811 ENSG00000100345 chr22:36314229-36314229;C/G missense_variant False MYH7B@p.R1325C 1 0.150684932 ENSG00000078814 chr20:34998397-34998397;C/T missense_variant False MYH7B@p.K1627E 1 0.136363636 ENSG00000078814 chr20:34999881-34999881;A/G missense_variant False MYH9@p.E915K 1 0.405594406 ENSG00000100345 chr22:36300946-36300946;C/T missense_variant False MYH7@p.E1095Q 1 0.833333333 ENSG00000092054 chr14:23421011-23421011;C/G missense_variant False MYH7@p.E500K 1 0.194029851 ENSG00000092054 chr14:23428580-23428580;C/T missense_variant False MYH7@p.E1772Q 1 0.252525253 ENSG00000092054 chr14:23415240-23415240;C/G missense_variant False MYH7@p.E1740K 1 0.140350877 ENSG00000092054 chr14:23415446-23415446;C/T missense_variant False MYH7@p.E1684K 1 0.06122449 ENSG00000092054 chr14:23415736-23415736;C/T missense_variant False MYH7@p.E1581K 1 0.122580645 ENSG00000092054 chr14:23416216-23416216;C/T missense_variant False MYH7@p.E1385K 1 0.279411765 ENSG00000092054 chr14:23418226-23418226;C/T missense_variant False MYH7@p.E1078Q 1 0.246376812 ENSG00000092054 chr14:23422193-23422193;C/G missense_variant False MYH7B@p.F882L 1 0.226027397 ENSG00000078814 chr20:34994224-34994224;C/G missense_variant False MYH7@p.D1339H 1 0.142857143 ENSG00000092054 chr14:23418364-23418364;C/G missense_variant False MYH6@p.V826Sfs*7 1 0.130434783 ENSG00000197616 chr14:23394277-23394277;C/- frameshift_variant False MYH6@p.T847M 1 0.12 ENSG00000197616 chr14:23394213-23394213;G/A missense_variant False MYH6@p.R404W 1 0.382978723 ENSG00000197616 chr14:23400909-23400909;G/A missense_variant False MYH6@p.Q1107H 1 0.056338028 ENSG00000197616 chr14:23392583-23392583;C/G missense_variant False MYH6@p.K145N 1 0.504761905 ENSG00000197616 chr14:23405290-23405290;C/G missense_variant False MYH7@p.E779Q 1 0.276315789 ENSG00000092054 chr14:23425370-23425370;C/G missense_variant False MYH7@p.R442H 1 0.473684211 ENSG00000092054 chr14:23429037-23429037;C/T missense_variant False MYH7@p.S1158F 1 0.044642857 ENSG00000092054 chr14:23420098-23420098;G/A missense_variant False MYH7@p.S1335L 1 0.319148936 ENSG00000092054 chr14:23418375-23418375;G/A missense_variant False MYH7@p.S1465L 1 0.247524752 ENSG00000092054 chr14:23417278-23417278;G/A missense_variant False MYH7@p.T1775A 1 0.058394161 ENSG00000092054 chr14:23415231-23415231;T/C missense_variant False MYH7@p.T544I 1 0.380530973 ENSG00000092054 chr14:23427842-23427842;G/A missense_variant False MYH7B@p.A1937T 1 0.081967213 ENSG00000078814 chr20:35001957-35001957;G/A missense_variant False MYH7B@p.E1294D 1 0.480392157 ENSG00000078814 chr20:34998306-34998306;G/T missense_variant False MYH7B@p.E138K 1 0.16 ENSG00000078814 chr20:34979751-34979751;G/A missense_variant False MYH7B@p.E1400K 1 0.4 ENSG00000078814 chr20:34998800-34998800;G/A missense_variant False MYH7B@p.E1587Q 1 0.205128205 ENSG00000078814 chr20:34999666-34999666;G/C missense_variant False MYH7B@p.E1840K 1 0.164179104 ENSG00000078814 chr20:35001078-35001078;G/A missense_variant False MYH7B@p.E266Q 1 0.242857143 ENSG00000078814 chr20:34984878-34984878;G/C missense_variant False MYH7B@p.E950Q 1 0.193548387 ENSG00000078814 chr20:34995360-34995360;G/C missense_variant False MYH7B@p.E964K 1 0.227272727 ENSG00000078814 chr20:34995402-34995402;G/A missense_variant False MYH7B@p.F554L 1 0.288461538 ENSG00000078814 chr20:34988214-34988214;C/A missense_variant False MYH9@p.E772K 1 0.228070175 ENSG00000100345 chr22:36304071-36304071;C/T missense_variant False MYH9@p.G766S 1 0.183908046 ENSG00000100345 chr22:36304089-36304089;C/T missense_variant False MYO15A@p.E2407D 1 0.430769231 ENSG00000091536 chr17:18150437-18150437;G/C missense_variant False MYLK@p.V1482A 1 0.157894737 ENSG00000065534 chr3:123647398-123647398;A/G missense_variant False MYNN@p.E210K 1 0.0625 ENSG00000085274 chr3:169779129-169779129;G/A missense_variant False MYNN@p.D446Y 1 0.054878049 ENSG00000085274 chr3:169782580-169782580;G/T missense_variant False MYNN@p.A122T 1 0.308641975 ENSG00000085274 chr3:169778865-169778865;G/A missense_variant False MYLPF@p.I78M 1 0.435483871 None chr16:30376484-30376484;C/G missense_variant False MYLPF@p.F104L 1 0.553191489 None chr16:30376654-30376654;C/A missense_variant False MYLK@p.Y1464N 1 0.19205298 ENSG00000065534 chr3:123648996-123648996;A/T missense_variant False MYLK@p.T331M 1 0.118110236 ENSG00000065534 chr3:123734004-123734004;G/A missense_variant False MYLK@p.E417D 1 0.075581395 ENSG00000065534 chr3:123733745-123733745;C/G missense_variant False MYLK@p.S1759Y 1 0.179039301 ENSG00000065534 chr3:123620299-123620299;G/T missense_variant False MYLK@p.R478G 1 0.115384615 ENSG00000065534 chr3:123732980-123732980;G/C missense_variant False MYLK@p.R409K 1 0.139175258 ENSG00000065534 chr3:123733770-123733770;C/T missense_variant False MYLK@p.P1780S 1 0.559585492 ENSG00000065534 chr3:123620237-123620237;G/A missense_variant False MYLK@p.L549Q 1 0.195652174 ENSG00000065534 chr3:123725949-123725949;A/T missense_variant False MYLK@p.G746D 1 0.424242424 ENSG00000065534 chr3:123707907-123707907;C/T missense_variant False MYNN@p.H433Y 1 0.194174757 ENSG00000085274 chr3:169782541-169782541;C/T missense_variant False MYNN@p.K262Q 1 0.467741935 ENSG00000085274 chr3:169779285-169779285;A/C missense_variant False MYNN@p.L10V 1 0.269230769 ENSG00000085274 chr3:169774323-169774323;C/G missense_variant False MYNN@p.M321I 1 0.078947368 ENSG00000085274 chr3:169779464-169779464;G/T missense_variant False MYNN@p.S130F 1 0.354166667 ENSG00000085274 chr3:169778890-169778890;C/T missense_variant False MYO10@p.D582H 1 0.354166667 ENSG00000145555 chr5:16758222-16758222;C/G missense_variant False MYO10@p.E321Q 1 0.162790698 ENSG00000145555 chr5:16769173-16769173;C/G missense_variant False MYO10@p.E952K 1 0.24137931 ENSG00000145555 chr5:16701541-16701541;C/T missense_variant False MYO10@p.L865Ffs*9 1 0.297297297 ENSG00000145555 chr5:16701800-16701801;-/A frameshift_variant False MYO10@p.M1247T 1 0.289719626 ENSG00000145555 chr5:16694431-16694431;A/G missense_variant False MYO10@p.N290Y 1 0.2 ENSG00000145555 chr5:16779607-16779607;T/A missense_variant False MYO10@p.Q226E 1 0.136363636 ENSG00000145555 chr5:16781756-16781756;G/C missense_variant False MYO10@p.R1643P 1 0.4 ENSG00000145555 chr5:16674889-16674889;C/G missense_variant False MYO10@p.R1758P 1 0.116883117 ENSG00000145555 chr5:16672725-16672725;C/G missense_variant False MYO10@p.S1029C 1 0.257142857 ENSG00000145555 chr5:16701309-16701309;G/C missense_variant False MYO15A@p.A98V 1 0.4 ENSG00000091536 chr17:18119093-18119093;C/T missense_variant False MYO15A@p.D2999N 1 0.175824176 ENSG00000091536 chr17:18158550-18158550;G/A missense_variant False MYLK@p.F1100L 1 0.369369369 ENSG00000065534 chr3:123700168-123700168;G/C missense_variant False MYLK@p.E1066K 1 0.459876543 ENSG00000065534 chr3:123700272-123700272;C/T missense_variant False MYH9@p.L10V 1 0.24137931 ENSG00000100345 chr22:36349209-36349209;G/C missense_variant False MYL5@p.D151N 1 0.357142857 ENSG00000215375 chr4:681923-681923;G/A missense_variant False MYLIP@p.I249Rfs*4 1 0.363636364 ENSG00000007944 chr6:16143782-16143793;TCGTGCTCTTGT/GA frameshift_variant False MYLIP@p.G197E 1 0.126984127 ENSG00000007944 chr6:16143145-16143145;G/A missense_variant False MYLIP@p.G186D 1 0.166666667 ENSG00000007944 chr6:16143112-16143112;G/A missense_variant False MYLIP@p.E114Q 1 0.255319149 ENSG00000007944 chr6:16141686-16141686;G/C missense_variant False MYL6@p.R94W 1 0.304347826 ENSG00000092841 chr12:56160079-56160079;C/T missense_variant False MYL5@p.K64N 1 0.296296296 ENSG00000215375 chr4:679918-679918;G/C missense_variant False MYL2@p.A116V 1 0.44 ENSG00000111245 chr12:110913252-110913252;G/A missense_variant False MYLK@p.D764H 1 0.083333333 ENSG00000065534 chr3:123707854-123707854;C/G missense_variant False MYL12B@p.R144K 1 0.178082192 ENSG00000118680 chr18:3277849-3277849;G/A missense_variant False MYL12B@p.D56H 1 0.19375 ENSG00000118680 chr18:3273064-3273064;G/C missense_variant False MYL12A@p.E140K 1 0.24137931 ENSG00000101608 chr18:3255820-3255820;G/A missense_variant False MYL10@p.E181Q 1 0.289156627 ENSG00000106436 chr7:101613703-101613703;C/G missense_variant False MYH9@p.R858T 1 0.738095238 ENSG00000100345 chr22:36301592-36301592;C/G missense_variant False MYH9@p.R1855Q 1 0.4 ENSG00000100345 chr22:36284431-36284431;C/T missense_variant False MYLK2@p.C300S 1 0.376623377 ENSG00000101306 chr20:31824278-31824278;T/A missense_variant False MYLK2@p.D122N 1 0.22875817 ENSG00000101306 chr20:31820437-31820437;G/A missense_variant False MYLK2@p.D53H 1 0.476190476 ENSG00000101306 chr20:31820230-31820230;G/C missense_variant False MYLK2@p.E202K 1 0.288888889 ENSG00000101306 chr20:31821569-31821569;G/A missense_variant False MYLK2@p.S450L 1 0.111111111 ENSG00000101306 chr20:31831066-31831066;C/T missense_variant False MYLK3@p.E202K 1 0.333333333 ENSG00000140795 chr16:46738108-46738108;C/T missense_variant False MYLK3@p.E498G 1 0.333333333 ENSG00000140795 chr16:46730668-46730668;T/C missense_variant False MYLK3@p.F803L 1 0.315789474 ENSG00000140795 chr16:46707755-46707755;G/C missense_variant False MYLK3@p.G441V 1 0.27027027 ENSG00000140795 chr16:46732348-46732348;C/A missense_variant False MYLK3@p.P467A 1 0.375 ENSG00000140795 chr16:46732271-46732271;G/C missense_variant False MYLK3@p.S510C 1 0.371308017 ENSG00000140795 chr16:46730632-46730632;G/C missense_variant False MYLK3@p.S690L 1 0.234234234 ENSG00000140795 chr16:46712693-46712693;G/A missense_variant False MYLK4@p.E171K 1 0.184210526 ENSG00000145949 chr6:2685330-2685330;C/T missense_variant False MYLK4@p.P283S 1 0.056338028 ENSG00000145949 chr6:2679320-2679320;G/A missense_variant False MYLK@p.A1044_P1055del 1 0.110671937 ENSG00000065534 chr3:123700302-123700337;CAGGCTTGGCATTGCCCATGGGCTTCAGGGTCTCGG/- inframe_deletion False MYLK@p.D1845H 1 0.289473684 ENSG00000065534 chr3:123614317-123614317;C/G missense_variant False MYLK@p.D1877N 1 0.183246073 ENSG00000065534 chr3:123614221-123614221;C/T missense_variant False MX2@p.E440Q 1 0.205128205 ENSG00000183486 chr21:41399241-41399241;G/C missense_variant False MX1@p.R515K 1 0.223404255 ENSG00000157601 chr21:41452655-41452655;G/A missense_variant False MTA2@p.R415W 1 0.131313131 ENSG00000149480 chr11:62595763-62595763;G/A missense_variant False MTOR@p.Q1866H 1 0.196428571 ENSG00000198793 chr1:11130544-11130544;C/G missense_variant False MTR@p.I190V 1 0.37037037 ENSG00000116984 chr1:236812803-236812803;A/G missense_variant False MTR@p.G606S 1 0.218181818 ENSG00000116984 chr1:236852951-236852951;G/A missense_variant False MTPAP@p.R503Q 1 0.291304348 ENSG00000107951 chr10:30313850-30313850;C/T missense_variant False MTPAP@p.H132N 1 0.161016949 ENSG00000107951 chr10:30340387-30340387;G/T missense_variant False MTPAP@p.D454N 1 0.5 ENSG00000107951 chr10:30315989-30315989;C/T missense_variant False MTOR@p.R717Q 1 0.293478261 ENSG00000198793 chr1:11237901-11237901;C/T missense_variant False MTOR@p.P2241S 1 0.226666667 ENSG00000198793 chr1:11122068-11122068;G/A missense_variant False MTR@p.S583C 1 0.373134328 ENSG00000116984 chr1:236852573-236852573;C/G missense_variant False MTOR@p.L2209V 1 0.159574468 ENSG00000198793 chr1:11124535-11124535;G/C missense_variant False MTOR@p.K30N 1 0.316176471 ENSG00000198793 chr1:11259320-11259320;C/G missense_variant False MTOR@p.F989L 1 0.358974359 ENSG00000198793 chr1:11228731-11228731;G/T missense_variant False MTOR@p.E2049Q 1 0.510989011 ENSG00000198793 chr1:11127695-11127695;C/G missense_variant False MTOR@p.E2049K 1 0.228813559 ENSG00000198793 chr1:11127695-11127695;C/T missense_variant False MTOR@p.E2032K 1 0.302631579 ENSG00000198793 chr1:11127746-11127746;C/T missense_variant False MTR@p.N211S 1 0.268292683 ENSG00000116984 chr1:236815626-236815626;A/G missense_variant False MTRES1@p.F63L 1 0.194805195 ENSG00000130349 chr6:107039949-107039949;C/G missense_variant False MX1@p.R443K 1 0.203703704 ENSG00000157601 chr21:41449191-41449191;G/A missense_variant False MTREX@p.K1031N 1 0.096153846 ENSG00000039123 chr5:55424736-55424736;G/C missense_variant False MTRR@p.Q217E 1 0.083333333 ENSG00000124275 chr5:7878110-7878110;C/G missense_variant False MTRR@p.P273S 1 0.138157895 ENSG00000124275 chr5:7878278-7878278;C/T missense_variant False MTRR@p.M28I 1 0.509090909 ENSG00000124275 chr5:7870797-7870797;G/A missense_variant False MTRF1@p.W57L 1 0.214285714 ENSG00000120662 chr13:41260738-41260738;C/A missense_variant False MTRF1@p.R306Q 1 0.283950617 ENSG00000120662 chr13:41233961-41233961;C/T missense_variant False MTRF1@p.D36H 1 0.180555556 ENSG00000120662 chr13:41260802-41260802;C/G missense_variant False MTREX@p.G789R 1 0.28125 ENSG00000039123 chr5:55400305-55400305;G/A missense_variant False MTREX@p.D252H 1 0.393939394 ENSG00000039123 chr5:55341744-55341744;G/C missense_variant False MTREX@p.G637S 1 0.24742268 ENSG00000039123 chr5:55378412-55378412;G/A missense_variant False MTREX@p.E705K 1 0.371428571 ENSG00000039123 chr5:55388034-55388034;G/A missense_variant False MTREX@p.D505V 1 0.14375 ENSG00000039123 chr5:55353250-55353250;A/T missense_variant False MTREX@p.D505H 1 0.222222222 ENSG00000039123 chr5:55353249-55353249;G/C missense_variant False MTREX@p.D337N 1 0.481481481 ENSG00000039123 chr5:55345097-55345097;G/A missense_variant False MTREX@p.D333H 1 0.170731707 ENSG00000039123 chr5:55344612-55344612;G/C missense_variant False MTOR@p.E2015Q 1 0.471698113 ENSG00000198793 chr1:11127797-11127797;C/G missense_variant False MTOR@p.E1845K 1 0.430769231 ENSG00000198793 chr1:11130609-11130609;C/T missense_variant False MTO1@p.R328S 1 0.393442623 ENSG00000135297 chr6:73479979-73479979;C/A missense_variant False MTMR4@p.S1176F 1 0.285714286 ENSG00000108389 chr17:58491724-58491724;G/A missense_variant False MTMR6@p.N260K 1 0.326530612 ENSG00000139505 chr13:25258639-25258639;G/C missense_variant False MTMR6@p.H478Y 1 0.125506073 ENSG00000139505 chr13:25251899-25251899;G/A missense_variant False MTMR6@p.E597K 1 0.4875 ENSG00000139505 chr13:25249309-25249309;C/T missense_variant False MTMR6@p.E157K 1 0.4 ENSG00000139505 chr13:25265941-25265941;C/T missense_variant False MTMR4@p.S361N 1 0.206896552 ENSG00000108389 chr17:58505493-58505493;C/T missense_variant False MTMR4@p.S271F 1 0.222929936 ENSG00000108389 chr17:58507173-58507173;G/A missense_variant False MTMR4@p.R925W 1 0.337837838 ENSG00000108389 chr17:58495369-58495369;G/A missense_variant False MTO1@p.E537Q 1 0.21875 ENSG00000135297 chr6:73482517-73482517;G/C missense_variant False MTMR4@p.P263L 1 0.224137931 ENSG00000108389 chr17:58507197-58507197;G/A missense_variant False MTMR4@p.M1182I 1 0.150537634 ENSG00000108389 chr17:58491705-58491705;C/T missense_variant False MTMR4@p.E281K 1 0.283333333 ENSG00000108389 chr17:58507144-58507144;C/T missense_variant False MTMR4@p.D685H 1 0.170616114 ENSG00000108389 chr17:58496089-58496089;C/G missense_variant False MTMR3@p.V791F 1 0.415929204 ENSG00000100330 chr22:30020030-30020030;G/T missense_variant False MTMR3@p.R671K 1 0.578431373 ENSG00000100330 chr22:30019671-30019671;G/A missense_variant False MTMR6@p.Q433R 1 0.333333333 ENSG00000139505 chr13:25253812-25253812;T/C missense_variant False MTMR6@p.S588R 1 0.185714286 ENSG00000139505 chr13:25249334-25249334;G/T missense_variant False MTMR7@p.A62V 1 0.462962963 ENSG00000003987 chr8:17371162-17371162;G/A missense_variant False MTMR7@p.D478N 1 0.516129032 ENSG00000003987 chr8:17304440-17304440;C/T missense_variant False MTMR7@p.G637S 1 0.528301887 ENSG00000003987 chr8:17299936-17299936;C/T missense_variant False MTMR7@p.N198D 1 0.54954955 ENSG00000003987 chr8:17348958-17348958;T/C missense_variant False MTMR7@p.Q221H 1 0.451612903 ENSG00000003987 chr8:17341432-17341432;C/A missense_variant False MTMR7@p.Q347E 1 0.316239316 ENSG00000003987 chr8:17311573-17311573;G/C missense_variant False MTMR8@p.M513K 1 0.115384615 ENSG00000102043 chrX:64271017-64271017;A/T missense_variant False MTMR8@p.S661F 1 0.105263158 ENSG00000102043 chrX:64268670-64268670;G/A missense_variant False MTMR9@p.E542Q 1 0.486486486 ENSG00000104643 chr8:11322762-11322762;G/C missense_variant False MTNR1A@p.C146Y 1 0.4375 ENSG00000168412 chr4:186534305-186534305;C/T missense_variant False MTNR1A@p.I249V 1 0.313253012 ENSG00000168412 chr4:186533997-186533997;T/C missense_variant False MTNR1A@p.P80L 1 0.4 ENSG00000168412 chr4:186534503-186534503;G/A missense_variant False MTNR1A@p.R125L 1 0.236111111 ENSG00000168412 chr4:186534368-186534368;C/A missense_variant False MTO1@p.A23S 1 0.281437126 ENSG00000135297 chr6:73461921-73461921;G/T missense_variant False MTO1@p.E270K 1 0.415584416 ENSG00000135297 chr6:73473637-73473637;G/A missense_variant False MTRR@p.S296L 1 0.092307692 ENSG00000124275 chr5:7883180-7883180;C/T missense_variant False MTRR@p.S535F 1 0.225806452 ENSG00000124275 chr5:7892879-7892879;C/T missense_variant False MTSS1@p.G602A 1 0.075949367 ENSG00000170873 chr8:124553455-124553455;C/G missense_variant False MUC16@p.A1860D 1 0.088235294 ENSG00000181143 chr19:8975560-8975560;G/T missense_variant False MUC16@p.D12652E 1 0.136363636 ENSG00000181143 chr19:8906692-8906692;G/T missense_variant False MUC16@p.D12613H 1 0.123809524 ENSG00000181143 chr19:8906811-8906811;C/G missense_variant False MUC16@p.D12457G 1 0.145945946 ENSG00000181143 chr19:8909449-8909449;T/C missense_variant False MUC16@p.A9815D 1 0.340807175 ENSG00000181143 chr19:8947326-8947326;G/T missense_variant False MUC16@p.A7319P 1 0.723404255 ENSG00000181143 chr19:8954815-8954815;C/G missense_variant False MUC16@p.A47S 1 0.368421053 ENSG00000181143 chr19:8981000-8981000;C/A missense_variant False MUC15@p.S145F 1 0.274074074 ENSG00000169550 chr11:26565425-26565425;G/A missense_variant False MTX1@p.E312K 1 0.564516129 ENSG00000173171 chr1:155212547-155212547;G/A missense_variant False MUC15@p.S145C 1 0.234939759 ENSG00000169550 chr11:26565425-26565425;G/C missense_variant False MUC15@p.A93P 1 0.661016949 ENSG00000169550 chr11:26565582-26565582;C/G missense_variant False MUC13@p.S75T 1 0.219178082 ENSG00000173702 chr3:124927822-124927822;C/G missense_variant False MUC13@p.D105N 1 0.105263158 ENSG00000173702 chr3:124927733-124927733;C/T missense_variant False MTX3@p.E100K 1 0.375 ENSG00000177034 chr5:79989175-79989175;C/T missense_variant False MTX2@p.R247S 1 0.299435028 ENSG00000128654 chr2:176337613-176337613;G/C missense_variant False MUC16@p.D12768H 1 0.304347826 ENSG00000181143 chr19:8903997-8903997;C/G missense_variant False MUC16@p.D14301N 1 0.260869565 ENSG00000181143 chr19:8861015-8861015;C/T missense_variant False MUC16@p.D5239N 1 0.160621762 ENSG00000181143 chr19:8961055-8961055;C/T missense_variant False MUC16@p.D7168Y 1 0.071428571 ENSG00000181143 chr19:8955268-8955268;C/A missense_variant False MUC16@p.D7805E 1 0.301886792 ENSG00000181143 chr19:8953355-8953355;A/T missense_variant False MUC16@p.E10115Q 1 0.552631579 ENSG00000181143 chr19:8946427-8946427;C/G missense_variant False MUC16@p.E1186K 1 0.12987013 ENSG00000181143 chr19:8977583-8977583;C/T missense_variant False MUC16@p.E12016K 1 0.558823529 ENSG00000181143 chr19:8934909-8934909;C/T missense_variant False MUC16@p.E13726Q 1 0.333333333 ENSG00000181143 chr19:8885720-8885720;C/G missense_variant False MUC16@p.E14134Q 1 0.194444444 ENSG00000181143 chr19:8865752-8865752;C/G missense_variant False MUC16@p.E1549D 1 0.161676647 ENSG00000181143 chr19:8976492-8976492;T/G missense_variant False MUC16@p.E1619Q 1 0.327868852 ENSG00000181143 chr19:8976284-8976284;C/G missense_variant False MUC16@p.E1659K 1 0.144578313 ENSG00000181143 chr19:8976164-8976164;C/T missense_variant False MUC16@p.E1804K 1 0.272727273 ENSG00000181143 chr19:8975729-8975729;C/T missense_variant False MUC16@p.E1903K 1 0.129032258 ENSG00000181143 chr19:8975432-8975432;C/T missense_variant False MUC16@p.E5266K 1 0.112149533 ENSG00000181143 chr19:8960974-8960974;C/T missense_variant False MUC16@p.E583Q 1 0.788321168 ENSG00000181143 chr19:8979392-8979392;C/G missense_variant False MTX1@p.R237W 1 0.084210526 ENSG00000173171 chr1:155212157-155212157;C/T missense_variant False MTUS2@p.R99T 1 0.31372549 ENSG00000132938 chr13:29024994-29024994;G/C missense_variant False MTSS1@p.P678Q 1 0.102389078 ENSG00000170873 chr8:124553227-124553227;G/T missense_variant False MTTP@p.P204L 1 0.125 ENSG00000138823 chr4:99591344-99591344;C/T missense_variant False MTUS1@p.D224H 1 0.144444444 ENSG00000129422 chr8:17755138-17755138;C/G missense_variant False MTURN@p.Q125H 1 0.198019802 ENSG00000180354 chr7:30157527-30157527;G/C missense_variant False MTURN@p.D32N 1 0.157894737 ENSG00000180354 chr7:30135230-30135230;G/A missense_variant False MTTP@p.S745C 1 0.127272727 ENSG00000138823 chr4:99618990-99618990;C/G missense_variant False MTTP@p.R607C 1 0.341463415 ENSG00000138823 chr4:99611192-99611192;C/T missense_variant False MTTP@p.R595Q 1 0.529411765 ENSG00000138823 chr4:99611157-99611157;G/A missense_variant False MTTP@p.L4V 1 0.133333333 ENSG00000138823 chr4:99574919-99574919;C/G missense_variant False MTUS2@p.R19K 1 0.285714286 ENSG00000132938 chr13:29024754-29024754;G/A missense_variant False MTTP@p.G291R 1 0.139784946 ENSG00000138823 chr4:99594845-99594845;G/A missense_variant False MTTP@p.E146Q 1 0.222222222 ENSG00000138823 chr4:99589685-99589685;G/C missense_variant False MTTP@p.D318H 1 0.344537815 ENSG00000138823 chr4:99597109-99597109;G/C missense_variant False MTSS2@p.T551A 1 0.257142857 ENSG00000132613 chr16:70664270-70664270;T/C missense_variant False MTSS2@p.E112Q 1 0.576923077 ENSG00000132613 chr16:70679834-70679834;C/G missense_variant False MTSS1@p.Y299H 1 0.222222222 ENSG00000170873 chr8:124562922-124562922;A/G missense_variant False MTUS1@p.E339K 1 0.383561644 ENSG00000129422 chr8:17754793-17754793;C/T missense_variant False MTUS1@p.E613A 1 0.211764706 ENSG00000129422 chr8:17753970-17753970;T/G missense_variant False MTUS1@p.H852D 1 0.196808511 ENSG00000129422 chr8:17715797-17715797;G/C missense_variant False MTUS1@p.L695V 1 0.131147541 ENSG00000129422 chr8:17753725-17753725;G/C missense_variant False MTUS1@p.P657S 1 0.365384615 ENSG00000129422 chr8:17753839-17753839;G/A missense_variant False MTUS1@p.S675Y 1 0.351851852 ENSG00000129422 chr8:17753784-17753784;G/T missense_variant False MTUS1@p.T483R 1 0.343478261 ENSG00000129422 chr8:17754360-17754360;G/C missense_variant False MTUS1@p.T574S 1 0.315555556 ENSG00000129422 chr8:17754088-17754088;T/A missense_variant False MTUS2@p.D407H 1 0.384615385 ENSG00000132938 chr13:29025917-29025917;G/C missense_variant False MTUS2@p.E170K 1 0.170068027 ENSG00000132938 chr13:29025206-29025206;G/A missense_variant False MTUS2@p.E258D 1 0.238095238 ENSG00000132938 chr13:29025472-29025472;G/C missense_variant False MTUS2@p.E388K 1 0.25 ENSG00000132938 chr13:29025860-29025860;G/A missense_variant False MTUS2@p.G213E 1 0.428571429 ENSG00000132938 chr13:29025336-29025336;G/A missense_variant False MTUS2@p.K731T 1 0.344827586 ENSG00000132938 chr13:29026890-29026890;A/C missense_variant False MTUS2@p.L678F 1 0.291666667 ENSG00000132938 chr13:29026730-29026730;C/T missense_variant False MTUS2@p.L925I 1 0.491071429 ENSG00000132938 chr13:29281832-29281832;C/A missense_variant False MTUS2@p.R150S 1 0.260115607 ENSG00000132938 chr13:29025148-29025148;G/T missense_variant False MTMR3@p.N283S 1 0.193548387 ENSG00000100330 chr22:30007290-30007290;A/G missense_variant False MTMR3@p.H864Y 1 0.114285714 ENSG00000100330 chr22:30020249-30020249;C/T missense_variant False MTMR3@p.G169R 1 0.222222222 ENSG00000100330 chr22:29998805-29998805;G/C missense_variant False MTF2@p.E111Q 1 0.171428571 ENSG00000143033 chr1:93114732-93114732;G/C missense_variant False MTFR1L@p.E194K 1 0.222222222 ENSG00000117640 chr1:25829637-25829637;G/A missense_variant False MTFR1@p.M245I 1 0.225806452 ENSG00000066855 chr8:65707227-65707227;G/A missense_variant False MTFMT@p.Q378H 1 0.428571429 ENSG00000103707 chr15:65003098-65003098;C/G missense_variant False MTFMT@p.L301F 1 0.189189189 ENSG00000103707 chr15:65004926-65004926;T/A missense_variant False MTF2@p.R506T 1 0.381443299 ENSG00000143033 chr1:93136762-93136762;G/C missense_variant False MTF2@p.M413I 1 0.065217391 ENSG00000143033 chr1:93133781-93133781;G/A missense_variant False MTF2@p.A165T 1 0.296296296 ENSG00000143033 chr1:93115479-93115479;G/A missense_variant False MTERF3@p.P121A 1 0.177083333 ENSG00000156469 chr8:96257088-96257088;G/C missense_variant False MTF1@p.S366L 1 0.35483871 ENSG00000188786 chr1:37823784-37823784;G/A missense_variant False MTF1@p.Q534H 1 0.083333333 ENSG00000188786 chr1:37822286-37822286;C/G missense_variant False MTF1@p.N230Y 1 0.25974026 ENSG00000188786 chr1:37838716-37838716;T/A missense_variant False MTF1@p.L74V 1 0.073170732 ENSG00000188786 chr1:37857439-37857439;G/C missense_variant False MTF1@p.D380N 1 0.117647059 ENSG00000188786 chr1:37823743-37823743;C/T missense_variant False MTF1@p.D264N 1 0.208333333 ENSG00000188786 chr1:37835734-37835734;C/T missense_variant False MTFR2@p.D326G 1 0.112903226 ENSG00000146410 chr6:136233392-136233392;T/C missense_variant False MTFR2@p.E245K 1 0.125 ENSG00000146410 chr6:136239602-136239602;C/T missense_variant False MTG2@p.E379Q 1 0.157894737 ENSG00000101181 chr20:62200991-62200991;G/C missense_variant False MTG2@p.F194L 1 0.142857143 ENSG00000101181 chr20:62198747-62198747;C/G missense_variant False MTHFD1@p.E260K 1 0.383333333 ENSG00000100714 chr14:64424854-64424854;G/A missense_variant False MTHFD1@p.E764K 1 0.06557377 ENSG00000100714 chr14:64449455-64449455;G/A missense_variant False MTHFD1@p.I683M 1 0.368852459 ENSG00000100714 chr14:64442315-64442315;C/G missense_variant False MTHFD1@p.L455F 1 0.588888889 ENSG00000100714 chr14:64431583-64431583;C/T missense_variant False MTHFD1@p.P379L 1 0.188679245 ENSG00000100714 chr14:64427345-64427345;C/T missense_variant False MTHFD1@p.R46T 1 0.12962963 ENSG00000100714 chr14:64411100-64411100;G/C missense_variant False MTHFD1L@p.D142H 1 0.140350877 ENSG00000120254 chr6:150882768-150882768;G/C missense_variant False MTHFD1L@p.E263K 1 0.381578947 ENSG00000120254 chr6:150905656-150905656;G/A missense_variant False MTHFD1L@p.G590E 1 0.342105263 ENSG00000120254 chr6:150956037-150956037;G/A missense_variant False MTHFD1L@p.G759D 1 0.333333333 ENSG00000120254 chr6:151013789-151013789;G/A missense_variant False MTHFD1L@p.L356F 1 0.359375 ENSG00000120254 chr6:150922286-150922286;C/T missense_variant False MTHFD1L@p.M248I 1 0.1 ENSG00000120254 chr6:150887945-150887945;G/A missense_variant False MTHFD1L@p.P550L 1 0.470588235 ENSG00000120254 chr6:150949056-150949056;C/T missense_variant False MTF1@p.C632W 1 0.194444444 ENSG00000188786 chr1:37815502-37815502;A/C missense_variant False MTERF3@p.K308T 1 0.542372881 ENSG00000156469 chr8:96244055-96244055;T/G missense_variant False MTHFD1L@p.R506S 1 0.6 ENSG00000120254 chr6:150944563-150944563;G/T missense_variant False MTBP@p.L314I 1 0.291666667 ENSG00000172167 chr8:120461218-120461218;C/A missense_variant False MTCL1@p.D372N 1 0.147058824 ENSG00000168502 chr18:8718484-8718484;G/A missense_variant False MTCH2@p.S213F 1 0.3 ENSG00000109919 chr11:47627123-47627123;G/A missense_variant False MTCH2@p.R171W 1 0.268292683 ENSG00000109919 chr11:47630583-47630583;G/A missense_variant False MTCH1@p.W356C 1 0.930555556 ENSG00000137409 chr6:36970069-36970069;C/G missense_variant False MTBP@p.S612L 1 0.186046512 ENSG00000172167 chr8:120506813-120506813;C/T missense_variant False MTBP@p.L702F 1 0.324324324 ENSG00000172167 chr8:120516051-120516051;G/C missense_variant False MTBP@p.H769Y 1 0.23853211 ENSG00000172167 chr8:120517909-120517909;C/T missense_variant False MTERF3@p.E396K 1 0.523809524 ENSG00000156469 chr8:96239559-96239559;C/T missense_variant False MTBP@p.H434N 1 0.170212766 ENSG00000172167 chr8:120488293-120488293;C/A missense_variant False MTBP@p.A148S 1 0.450980392 ENSG00000172167 chr8:120453863-120453863;G/T missense_variant False MTARC2@p.S142L 1 0.31372549 ENSG00000117791 chr1:220755099-220755099;C/T missense_variant False MTARC2@p.R42C 1 0.846153846 ENSG00000117791 chr1:220748655-220748655;C/T missense_variant False MTA3@p.D146H 1 0.157894737 ENSG00000057935 chr2:42644181-42644181;G/C missense_variant False MTA2@p.R536Q 1 0.295774648 ENSG00000149480 chr11:62594601-62594601;C/T missense_variant False MTCL1@p.E1404K 1 0.12962963 ENSG00000168502 chr18:8824763-8824763;G/A missense_variant False MTCL1@p.E1694K 1 0.314285714 ENSG00000168502 chr18:8825633-8825633;G/A missense_variant False MTCL1@p.E1701Q 1 0.081395349 ENSG00000168502 chr18:8825654-8825654;G/C missense_variant False MTCL1@p.E783Q 1 0.263157895 ENSG00000168502 chr18:8784379-8784379;G/C missense_variant False MTCL1@p.R485K 1 0.361904762 ENSG00000168502 chr18:8777849-8777849;G/A missense_variant False MTDH@p.D363H 1 0.120481928 ENSG00000147649 chr8:97699792-97699792;G/C missense_variant False MTDH@p.L413R 1 0.090909091 ENSG00000147649 chr8:97706716-97706716;T/G missense_variant False MTDH@p.R315T 1 0.322580645 ENSG00000147649 chr8:97691084-97691084;G/C missense_variant False MTDH@p.R470T 1 0.46835443 ENSG00000147649 chr8:97719077-97719077;G/C missense_variant False MTERF1@p.H227Y 1 0.318181818 ENSG00000127989 chr7:91874115-91874115;G/A missense_variant False MTERF1@p.H63D 1 0.228070175 ENSG00000127989 chr7:91874607-91874607;G/C missense_variant False MTERF1@p.L208V 1 0.141304348 ENSG00000127989 chr7:91874172-91874172;G/C missense_variant False MTERF1@p.M21V 1 0.228070175 ENSG00000127989 chr7:91874733-91874733;T/C missense_variant False MTERF2@p.A226T 1 0.352941176 ENSG00000120832 chr12:106978039-106978039;C/T missense_variant False MTERF2@p.E324K 1 0.265822785 ENSG00000120832 chr12:106977745-106977745;C/T missense_variant False MTERF2@p.K345T 1 0.053254438 ENSG00000120832 chr12:106977681-106977681;T/G missense_variant False MTERF2@p.L30S 1 0.321428571 ENSG00000120832 chr12:106978626-106978626;A/G missense_variant False MTHFD1L@p.P761H 1 0.058823529 ENSG00000120254 chr6:151013795-151013795;C/A missense_variant False MTHFD2@p.E296Q 1 0.325 ENSG00000065911 chr2:74211863-74211863;G/C missense_variant False MTMR3@p.E77K 1 0.277310924 ENSG00000100330 chr22:29988498-29988498;G/A missense_variant False MTMR12@p.H44Y 1 0.063829787 ENSG00000150712 chr5:32276694-32276694;G/A missense_variant False MTMR14@p.R60K 1 0.265432099 ENSG00000163719 chr3:9653640-9653640;G/A missense_variant False MTMR14@p.E634Q 1 0.403846154 ENSG00000163719 chr3:9701920-9701920;G/C missense_variant False MTMR14@p.E567K 1 0.172131148 ENSG00000163719 chr3:9697796-9697796;G/A missense_variant False MTMR14@p.D541G 1 0.211699164 ENSG00000163719 chr3:9697719-9697719;A/G missense_variant False MTMR12@p.R437C 1 0.488888889 ENSG00000150712 chr5:32239036-32239036;G/A missense_variant False MTMR12@p.Q116H 1 0.138888889 ENSG00000150712 chr5:32271843-32271843;C/G missense_variant False MTMR12@p.E740Q 1 0.109589041 ENSG00000150712 chr5:32229804-32229804;C/G missense_variant False MTMR10@p.H680Y 1 0.405405405 ENSG00000166912 chr15:30941766-30941766;G/A missense_variant False MTMR12@p.D93H 1 0.333333333 ENSG00000150712 chr5:32273988-32273988;C/G missense_variant False MTMR11@p.S491C 1 0.456790123 ENSG00000014914 chr1:149930540-149930540;G/C missense_variant False MTMR11@p.S393L 1 0.380530973 ENSG00000014914 chr1:149931372-149931372;G/A missense_variant False MTMR11@p.R139Q 1 0.390625 ENSG00000014914 chr1:149935038-149935038;C/T missense_variant False MTMR11@p.P555T 1 0.072916667 ENSG00000014914 chr1:149929901-149929901;G/T missense_variant False MTMR11@p.E396K 1 0.322222222 ENSG00000014914 chr1:149931364-149931364;C/T missense_variant False MTMR1@p.D274N 1 0.643678161 ENSG00000063601 chrX:150731572-150731572;G/A missense_variant False MTMR1@p.H295Y 1 0.2 ENSG00000063601 chrX:150732557-150732557;C/T missense_variant False MTMR1@p.I116N 1 0.338235294 ENSG00000063601 chrX:150727233-150727233;T/A missense_variant False MTMR1@p.L451V 1 0.684210526 ENSG00000063601 chrX:150737350-150737350;C/G missense_variant False MTMR1@p.P118Q 1 0.117647059 ENSG00000063601 chrX:150727239-150727239;C/A missense_variant False MTMR1@p.S648P 1 0.80952381 ENSG00000063601 chrX:150762673-150762673;T/C missense_variant False MTMR1@p.S67F 1 0.17699115 ENSG00000063601 chrX:150699248-150699248;C/T missense_variant False MTMR1@p.S80F 1 0.894736842 ENSG00000063601 chrX:150699287-150699287;C/T missense_variant False MTMR2@p.L179V 1 0.204444444 ENSG00000087053 chr11:95858566-95858566;G/C missense_variant False MTMR2@p.R216K 1 0.181818182 ENSG00000087053 chr11:95857559-95857559;C/T missense_variant False MTMR2@p.R233G 1 0.206185567 ENSG00000087053 chr11:95850707-95850707;G/C missense_variant False MTMR2@p.R596T 1 0.060240964 ENSG00000087053 chr11:95835435-95835435;C/G missense_variant False MTMR2@p.S309F 1 0.082089552 ENSG00000087053 chr11:95849741-95849741;G/A missense_variant False MTMR3@p.E164Q 1 0.214285714 ENSG00000100330 chr22:29998790-29998790;G/C missense_variant False MTMR3@p.E239Q 1 0.209876543 ENSG00000100330 chr22:30007157-30007157;G/C missense_variant False MTMR3@p.E43Q 1 0.169230769 ENSG00000100330 chr22:29978969-29978969;G/C missense_variant False MTMR3@p.E4Q 1 0.24137931 ENSG00000100330 chr22:29978448-29978448;G/C missense_variant False MTMR11@p.D241H 1 0.230188679 ENSG00000014914 chr1:149933905-149933905;C/G missense_variant False MTMR10@p.H509Y 1 0.216049383 ENSG00000166912 chr15:30947153-30947153;G/A missense_variant False MTHFD2@p.L246I 1 0.296774194 ENSG00000065911 chr2:74211264-74211264;C/A missense_variant False MTHFD2L@p.R69Q 1 0.38 ENSG00000163738 chr4:74174568-74174568;G/A missense_variant False MTHFS@p.M190I 1 0.138888889 ENSG00000136371 chr15:79845252-79845252;C/A missense_variant False MTHFS@p.F175L 1 0.267857143 ENSG00000136371 chr15:79845297-79845297;G/C missense_variant False MTHFR@p.S369C 1 0.254901961 ENSG00000177000 chr1:11794789-11794789;G/C missense_variant False MTHFR@p.E40K 1 0.482758621 ENSG00000177000 chr1:11802999-11802999;C/T missense_variant False MTHFR@p.E279D 1 0.303030303 ENSG00000177000 chr1:11795292-11795292;C/A missense_variant False MTHFR@p.E136K 1 0.158730159 ENSG00000177000 chr1:11801230-11801230;C/T missense_variant False MTHFD2L@p.K102N 1 0.597826087 ENSG00000163738 chr4:74174668-74174668;G/C missense_variant False MTMR10@p.E771Q 1 0.263157895 ENSG00000166912 chr15:30941493-30941493;C/G missense_variant False MTHFD2L@p.D91H 1 0.370967742 ENSG00000163738 chr4:74174633-74174633;G/C missense_variant False MTHFD2L@p.D169N 1 0.335443038 ENSG00000163738 chr4:74199847-74199847;G/A missense_variant False MTHFD2@p.V39F 1 0.131147541 ENSG00000065911 chr2:74205718-74205718;G/T missense_variant False MTHFD2@p.V339M 1 0.5 ENSG00000065911 chr2:74214204-74214204;G/A missense_variant False MTHFD2@p.Q55* 1 0.410958904 ENSG00000065911 chr2:74205764-74205770;GGCAGGA/- frameshift_variant False MTHFD2@p.P79Sfs*22 1 0.535211268 ENSG00000065911 chr2:74205836-74205837;-/T frameshift_variant False MTIF2@p.A207P 1 0.157303371 ENSG00000085760 chr2:55254086-55254086;C/G missense_variant False MTIF2@p.D699H 1 0.254545455 ENSG00000085760 chr2:55236737-55236737;C/G missense_variant False MTIF2@p.E619K 1 0.169811321 ENSG00000085760 chr2:55240026-55240026;C/T missense_variant False MTIF2@p.G417E 1 0.53125 ENSG00000085760 chr2:55244090-55244090;C/T missense_variant False MTIF2@p.Q274E 1 0.292035398 ENSG00000085760 chr2:55252498-55252498;G/C missense_variant False MTIF2@p.S633C 1 0.183673469 ENSG00000085760 chr2:55237401-55237401;G/C missense_variant False MTIF2@p.V518L 1 0.352941176 ENSG00000085760 chr2:55243428-55243428;C/A missense_variant False MTIF2@p.V641F 1 0.177419355 ENSG00000085760 chr2:55237378-55237378;C/A missense_variant False MTIF3@p.D266H 1 0.357142857 ENSG00000122033 chr13:27435716-27435716;C/G missense_variant False MTIF3@p.L214F 1 0.810810811 ENSG00000122033 chr13:27435872-27435872;G/A missense_variant False MTIF3@p.S16F 1 0.142857143 ENSG00000122033 chr13:27440402-27440402;G/A missense_variant False MTM1@p.D210Y 1 0.144927536 ENSG00000171100 chrX:150641368-150641368;G/T missense_variant False MTM1@p.E156K 1 0.480769231 ENSG00000171100 chrX:150638964-150638964;G/A missense_variant False MTM1@p.I311V 1 0.083333333 ENSG00000171100 chrX:150649779-150649779;A/G missense_variant False MTM1@p.R222Q 1 0.964285714 ENSG00000171100 chrX:150641405-150641405;G/A missense_variant False MTM1@p.R69H 1 0.347826087 ENSG00000171100 chrX:150598661-150598661;G/A missense_variant False MTM1@p.S376G 1 0.524390244 ENSG00000171100 chrX:150657893-150657893;A/G missense_variant False MUC16@p.E6584Q 1 0.240963855 ENSG00000181143 chr19:8957020-8957020;C/G missense_variant False MUC16@p.E6851K 1 0.336956522 ENSG00000181143 chr19:8956219-8956219;C/T missense_variant False MUC16@p.E7239Q 1 0.181818182 ENSG00000181143 chr19:8955055-8955055;C/G missense_variant False MUC4@p.G48A 1 0.168141593 ENSG00000145113 chr3:195791437-195791437;C/G missense_variant False MUC4@p.P936L 1 0.450980392 ENSG00000145113 chr3:195788773-195788773;G/A missense_variant False MUC4@p.P858T 1 0.395348837 ENSG00000145113 chr3:195789008-195789008;G/T missense_variant False MUC4@p.L412Q 1 0.056603774 ENSG00000145113 chr3:195790345-195790345;A/T missense_variant False MUC4@p.H772Ifs*88 1 0.138888889 ENSG00000145113 chr3:195789266-195789266;G/- frameshift_variant False MUC4@p.H5331Y 1 0.172043011 ENSG00000145113 chr3:195748945-195748945;G/A missense_variant False MUC4@p.G753R 1 0.223529412 ENSG00000145113 chr3:195789323-195789323;C/T missense_variant False MUC4@p.F4404L 1 0.285714286 ENSG00000145113 chr3:195771682-195771682;G/T missense_variant False MUC3A@p.S2403L 1 0.415770609 ENSG00000169894 chr7:100958987-100958987;C/T missense_variant False MUC4@p.E5039Q 1 0.137254902 ENSG00000145113 chr3:195757200-195757200;C/G missense_variant False MUC3A@p.V43L 1 0.176923077 ENSG00000169894 chr7:100951906-100951906;G/C missense_variant False MUC3A@p.V269M 1 0.640350877 ENSG00000169894 chr7:100952584-100952584;G/A missense_variant False MUC3A@p.T2499N 1 0.105263158 ENSG00000169894 chr7:100959275-100959275;C/A missense_variant False MUC3A@p.S2920L 1 0.184946237 ENSG00000169894 chr7:100960538-100960538;C/T missense_variant False MUC3A@p.S2759F 1 0.08365019 ENSG00000169894 chr7:100960055-100960055;C/T missense_variant False MUC4@p.R4570W 1 0.264150943 ENSG00000145113 chr3:195765360-195765360;G/A missense_variant False MUC4@p.S261L 1 0.5375 ENSG00000145113 chr3:195790798-195790798;G/A missense_variant False MUC4@p.S391L 1 0.546391753 ENSG00000145113 chr3:195790408-195790408;G/A missense_variant False MUC4@p.S4248L 1 0.184210526 ENSG00000145113 chr3:195778837-195778837;G/A missense_variant False MUC4@p.S491L 1 0.590163934 ENSG00000145113 chr3:195790108-195790108;G/A missense_variant False MUC4@p.T265P 1 0.101449275 ENSG00000145113 chr3:195790787-195790787;T/G missense_variant False MUC4@p.T624S 1 0.154121864 ENSG00000145113 chr3:195789710-195789710;T/A missense_variant False MUC5AC@p.D4933N 1 0.304347826 ENSG00000215182 chr11:1194151-1194151;G/A missense_variant False MUC5AC@p.F333L 1 0.163934426 ENSG00000215182 chr11:1164315-1164315;C/G missense_variant False MUC5AC@p.P4732S 1 0.115384615 ENSG00000215182 chr11:1192339-1192339;C/T missense_variant False MUC5AC@p.S134T 1 0.444444444 ENSG00000215182 chr11:1162096-1162096;G/C missense_variant False MUC5AC@p.S435F 1 0.151079137 ENSG00000215182 chr11:1165678-1165678;C/T missense_variant False MUC5AC@p.S4563C 1 0.631578947 ENSG00000215182 chr11:1191833-1191833;C/G missense_variant False MUC5AC@p.S4587C 1 0.266666667 ENSG00000215182 chr11:1191905-1191905;C/G missense_variant False MUC5B@p.A4432V 1 0.42519685 ENSG00000117983 chr11:1250175-1250175;C/T missense_variant False MUC5B@p.D89Afs*29 1 0.25 ENSG00000117983 chr11:1226679-1226694;CGACGGCGACGTCTTC/- frameshift_variant False MUC5B@p.E4785Q 1 0.289473684 ENSG00000117983 chr11:1251233-1251233;G/C missense_variant False MUC3A@p.S2724F 1 0.266998342 ENSG00000169894 chr7:100959950-100959950;C/T missense_variant False MUC3A@p.K3059N 1 0.168831169 ENSG00000169894 chr7:100963696-100963696;G/T missense_variant False MUC5B@p.F1206L 1 0.35 ENSG00000117983 chr11:1239833-1239833;C/A missense_variant False MUC17@p.V1368E 1 0.094202899 ENSG00000169876 chr7:101035519-101035519;T/A missense_variant False MUC20@p.R527S 1 0.074074074 ENSG00000176945 chr3:195726184-195726184;G/T missense_variant False MUC20@p.E120K 1 0.37704918 ENSG00000176945 chr3:195724961-195724961;G/A missense_variant False MUC20@p.D146A 1 0.113772455 ENSG00000176945 chr3:195725040-195725040;A/C missense_variant False MUC20@p.A478V 1 0.146341463 ENSG00000176945 chr3:195726036-195726036;C/T missense_variant False MUC17@p.V2422Lfs*37 1 0.32712766 ENSG00000169876 chr7:101038679-101038679;T/- frameshift_variant False MUC17@p.V1898L 1 0.445714286 ENSG00000169876 chr7:101037108-101037108;G/C missense_variant False MUC17@p.V1362A 1 0.40952381 ENSG00000169876 chr7:101035501-101035501;T/C missense_variant False MUC3A@p.I2345T 1 0.132575758 ENSG00000169894 chr7:100958813-100958813;T/C missense_variant False MUC17@p.T530A 1 0.068106312 ENSG00000169876 chr7:101033004-101033004;A/G missense_variant False MUC17@p.T3638S 1 0.123893805 ENSG00000169876 chr7:101042328-101042328;A/T missense_variant False MUC17@p.T3539K 1 0.169902913 ENSG00000169876 chr7:101042032-101042032;C/A missense_variant False MUC17@p.T3265A 1 0.775460123 ENSG00000169876 chr7:101041209-101041209;A/G missense_variant False MUC17@p.T2928A 1 0.254237288 ENSG00000169876 chr7:101040198-101040198;A/G missense_variant False MUC17@p.T2802A 1 0.223880597 ENSG00000169876 chr7:101039820-101039820;A/G missense_variant False MUC20@p.T98Nfs*37 1 0.321428571 ENSG00000176945 chr3:195724890-195724891;-/A frameshift_variant False MUC21@p.E229K 1 0.271698113 ENSG00000204544 chr6:30986860-30986860;G/A missense_variant False MUC21@p.E289K 1 0.199233716 ENSG00000204544 chr6:30987040-30987040;G/A missense_variant False MUC21@p.G221E 1 0.115254237 ENSG00000204544 chr6:30986837-30986837;G/A missense_variant False MUC21@p.S140C 1 0.178571429 ENSG00000204544 chr6:30986594-30986594;C/G missense_variant False MUC21@p.S234Y 1 0.108823529 ENSG00000204544 chr6:30986876-30986876;C/A missense_variant False MUC21@p.S365F 1 0.058823529 ENSG00000204544 chr6:30987269-30987269;C/T missense_variant False MUC21@p.V67M 1 0.263537906 ENSG00000204544 chr6:30986374-30986374;G/A missense_variant False MUC2@p.E1176K 1 0.16 ENSG00000198788 chr11:1090805-1090805;G/A missense_variant False MUC2@p.E690Q 1 0.473684211 ENSG00000198788 chr11:1085172-1085172;G/C missense_variant False MUC2@p.E928K 1 0.126315789 ENSG00000198788 chr11:1087953-1087953;G/A missense_variant False MUC2@p.R780Q 1 0.103448276 ENSG00000198788 chr11:1085811-1085811;G/A missense_variant False MUC2@p.R977C 1 0.45 ENSG00000198788 chr11:1110326-1110326;C/T missense_variant False MUC2@p.T756M 1 0.4 ENSG00000198788 chr11:1108219-1108219;C/T missense_variant False MUC2@p.T799M 1 0.55 ENSG00000198788 chr11:1108600-1108600;C/T missense_variant False MUC3A@p.E2349K 1 0.232804233 ENSG00000169894 chr7:100958824-100958824;G/A missense_variant False MUC3A@p.E2870K 1 0.214285714 ENSG00000169894 chr7:100960387-100960387;G/A missense_variant False MUC5B@p.E5301K 1 0.454545455 ENSG00000117983 chr11:1255393-1255393;G/A missense_variant False MUC5B@p.F4939L 1 0.095238095 ENSG00000117983 chr11:1251697-1251697;C/G missense_variant False MUC17@p.T2247I 1 0.150976909 ENSG00000169876 chr7:101038156-101038156;C/T missense_variant False MUSK@p.S681N 1 0.601156069 ENSG00000030304 chr9:110800420-110800420;G/A missense_variant False MVB12A@p.V272I 1 0.420454545 ENSG00000141971 chr19:17424985-17424985;G/A missense_variant False MVB12A@p.E261Q 1 0.17721519 ENSG00000141971 chr19:17424952-17424952;G/C missense_variant False MVB12A@p.E227Q 1 0.4 ENSG00000141971 chr19:17424044-17424044;G/C missense_variant False MUTYH@p.S321L 1 0.433333333 ENSG00000132781 chr1:45332049-45332049;G/A missense_variant False MUTYH@p.R85T 1 0.0625 ENSG00000132781 chr1:45333498-45333498;C/G missense_variant False MUTYH@p.L398P 1 0.135135135 ENSG00000132781 chr1:45331541-45331541;A/G missense_variant False MUSK@p.N574S 1 0.05 ENSG00000030304 chr9:110785661-110785661;A/G missense_variant False MUCL1@p.F3L 1 0.454545455 ENSG00000172551 chr12:54854591-54854591;C/A missense_variant False MUSK@p.L404V 1 0.381578947 ENSG00000030304 chr9:110775813-110775813;C/G missense_variant False MUSK@p.L270V 1 0.125 ENSG00000030304 chr9:110747695-110747695;C/G missense_variant False MUSK@p.G249E 1 0.807692308 ENSG00000030304 chr9:110734368-110734368;G/A missense_variant False MUSK@p.E42Q 1 0.068181818 ENSG00000030304 chr9:110682718-110682718;G/C missense_variant False MUSK@p.D93H 1 0.25 ENSG00000030304 chr9:110687187-110687187;G/C missense_variant False MUS81@p.S87L 1 0.487804878 ENSG00000172732 chr11:65861097-65861097;C/T missense_variant False MVB12B@p.K143N 1 0.593103448 ENSG00000196814 chr9:126392085-126392085;G/C missense_variant False MVD@p.A81G 1 0.238095238 ENSG00000167508 chr16:88657929-88657929;G/C missense_variant False MVD@p.E239Q 1 0.6 ENSG00000167508 chr16:88655381-88655381;C/G missense_variant False MVD@p.E30K 1 0.625 ENSG00000167508 chr16:88658703-88658703;C/T missense_variant False MVD@p.I21M 1 0.25 ENSG00000167508 chr16:88663018-88663018;G/C missense_variant False MVD@p.S351L 1 0.263157895 ENSG00000167508 chr16:88653370-88653370;G/A missense_variant False MVP@p.A535V 1 0.176470588 ENSG00000013364 chr16:29842082-29842082;C/T missense_variant False MVP@p.D533N 1 0.157894737 ENSG00000013364 chr16:29842075-29842075;G/A missense_variant False MVP@p.E705Q 1 0.1875 ENSG00000013364 chr16:29845954-29845954;G/C missense_variant False MVP@p.E789K 1 0.423076923 ENSG00000013364 chr16:29847296-29847296;G/A missense_variant False MVP@p.V579L 1 0.601423488 ENSG00000013364 chr16:29844593-29844593;G/T missense_variant False MVP@p.V586F 1 0.37414966 ENSG00000013364 chr16:29844614-29844614;G/T missense_variant False MX1@p.D12N 1 0.145833333 ENSG00000157601 chr21:41432104-41432104;G/A missense_variant False MX1@p.E437Q 1 0.2375 ENSG00000157601 chr21:41449172-41449172;G/C missense_variant False MX1@p.E576K 1 0.259358289 ENSG00000157601 chr21:41452837-41452837;G/A missense_variant False MX1@p.G156A 1 0.081761006 ENSG00000157601 chr21:41439724-41439724;G/C missense_variant False MX1@p.Q529H 1 0.160493827 ENSG00000157601 chr21:41452698-41452698;G/C missense_variant False MUCL3@p.E419D 1 0.330275229 ENSG00000168631 chr6:30952349-30952349;G/C missense_variant False MUC7@p.S288F 1 0.112852665 ENSG00000171195 chr4:70481607-70481607;C/T missense_variant False MUC5B@p.G1346E 1 0.37037037 ENSG00000117983 chr11:1240917-1240917;G/A missense_variant False MUC5B@p.S2899C 1 0.222222222 ENSG00000117983 chr11:1245576-1245576;C/G missense_variant False MUC5B@p.T4307A 1 0.367965368 ENSG00000117983 chr11:1249799-1249799;A/G missense_variant False MUC5B@p.S5059L 1 0.228070175 ENSG00000117983 chr11:1252939-1252939;C/T missense_variant False MUC5B@p.S4433P 1 0.099526066 ENSG00000117983 chr11:1250177-1250177;T/C missense_variant False MUC5B@p.S4384C 1 0.314516129 ENSG00000117983 chr11:1250031-1250031;C/G missense_variant False MUC5B@p.S4072G 1 0.585365854 ENSG00000117983 chr11:1249094-1249094;A/G missense_variant False MUC5B@p.S3184F 1 0.052287582 ENSG00000117983 chr11:1246431-1246431;C/T missense_variant False MUC5B@p.S2651C 1 0.230769231 ENSG00000117983 chr11:1244832-1244832;C/G missense_variant False MUC7@p.M363I 1 0.104477612 ENSG00000171195 chr4:70481833-70481833;G/A missense_variant False MUC5B@p.S2569F 1 0.255319149 ENSG00000117983 chr11:1244586-1244586;C/T missense_variant False MUC5B@p.S2258N 1 0.271186441 ENSG00000117983 chr11:1243653-1243653;G/A missense_variant False MUC5B@p.S1996L 1 0.395348837 ENSG00000117983 chr11:1242867-1242867;C/T missense_variant False MUC5B@p.M3819R 1 0.337579618 ENSG00000117983 chr11:1248336-1248336;T/G missense_variant False MUC5B@p.K4878T 1 0.333333333 ENSG00000117983 chr11:1251513-1251513;A/C missense_variant False MUC5B@p.G2357D 1 0.342105263 ENSG00000117983 chr11:1243950-1243950;G/A missense_variant False MUC5B@p.T4580I 1 0.833333333 ENSG00000117983 chr11:1250619-1250619;C/T missense_variant False MUC5B@p.T4624I 1 0.9 ENSG00000117983 chr11:1250751-1250751;C/T missense_variant False MUC5B@p.T4768P 1 0.511627907 ENSG00000117983 chr11:1251182-1251182;A/C missense_variant False MUC5B@p.V4857M 1 0.191709845 ENSG00000117983 chr11:1251449-1251449;G/A missense_variant False MUC5B@p.W1905C 1 0.075862069 ENSG00000117983 chr11:1242595-1242595;G/C missense_variant False MUC5B@p.W3890R 1 0.44 ENSG00000117983 chr11:1248548-1248548;T/C missense_variant False MUC6@p.A2247V 1 0.196721311 ENSG00000184956 chr11:1016061-1016061;G/A missense_variant False MUC6@p.A634V 1 0.6875 ENSG00000184956 chr11:1027765-1027765;G/A missense_variant False MUC6@p.D967H 1 0.4375 ENSG00000184956 chr11:1025268-1025268;C/G missense_variant False MUC6@p.E469K 1 0.41509434 ENSG00000184956 chr11:1028937-1028937;C/T missense_variant False MUC6@p.E574Q 1 0.333333333 ENSG00000184956 chr11:1028259-1028259;C/G missense_variant False MUC6@p.F831L 1 0.516129032 ENSG00000184956 chr11:1026380-1026380;G/T missense_variant False MUC6@p.N1519K 1 0.932432432 ENSG00000184956 chr11:1018244-1018244;G/C missense_variant False MUC6@p.Q1322E 1 0.254237288 ENSG00000184956 chr11:1019341-1019341;G/C missense_variant False MUC6@p.S1765F 1 0.031165312 ENSG00000184956 chr11:1017507-1017507;G/A missense_variant False MUC7@p.A253T 1 0.220883534 ENSG00000171195 chr4:70481501-70481501;G/A missense_variant False MUC7@p.E302Q 1 0.490566038 ENSG00000171195 chr4:70481648-70481648;G/C missense_variant False MUC17@p.T2289M 1 0.459090909 ENSG00000169876 chr7:101038282-101038282;C/T missense_variant False MUC17@p.T2229I 1 0.030701754 ENSG00000169876 chr7:101038102-101038102;C/T missense_variant False MUC16@p.E7338K 1 0.425925926 ENSG00000181143 chr19:8954758-8954758;C/T missense_variant False MUC16@p.R12305C 1 0.431372549 ENSG00000181143 chr19:8914273-8914273;G/A missense_variant False MUC16@p.R7951W 1 0.243243243 ENSG00000181143 chr19:8952919-8952919;T/A missense_variant False MUC16@p.R7077S 1 0.234042553 ENSG00000181143 chr19:8955539-8955539;T/A missense_variant False MUC16@p.R6954K 1 0.333333333 ENSG00000181143 chr19:8955909-8955909;C/T missense_variant False MUC16@p.R3863T 1 0.217391304 ENSG00000181143 chr19:8965182-8965182;C/G missense_variant False MUC16@p.R12729T 1 0.141304348 ENSG00000181143 chr19:8904961-8904961;C/G missense_variant False MUC16@p.R12653K 1 0.828205128 ENSG00000181143 chr19:8906690-8906690;C/T missense_variant False MUC16@p.R10296P 1 0.153846154 ENSG00000181143 chr19:8945883-8945883;C/G missense_variant False MUC16@p.P8441H 1 0.147368421 ENSG00000181143 chr19:8951448-8951448;G/T missense_variant False MUC16@p.Q8758E 1 0.323943662 ENSG00000181143 chr19:8950498-8950498;G/C missense_variant False MUC16@p.Q7876E 1 0.218181818 ENSG00000181143 chr19:8953144-8953144;G/C missense_variant False MUC16@p.Q3755E 1 0.17877095 ENSG00000181143 chr19:8965507-8965507;G/C missense_variant False MUC16@p.Q1744H 1 0.151515152 ENSG00000181143 chr19:8975907-8975907;C/G missense_variant False MUC16@p.Q14194H 1 0.222222222 ENSG00000181143 chr19:8863413-8863413;C/G missense_variant False MUC16@p.Q13090E 1 0.150442478 ENSG00000181143 chr19:8897608-8897608;G/C missense_variant False MUC16@p.R9414K 1 0.325301205 ENSG00000181143 chr19:8948529-8948529;C/T missense_variant False MUC16@p.S10137C 1 0.303030303 ENSG00000181143 chr19:8946360-8946360;G/C missense_variant False MUC16@p.S10539P 1 0.434659091 ENSG00000181143 chr19:8939340-8939340;A/G missense_variant False MUC16@p.S10645L 1 0.508196721 ENSG00000181143 chr19:8939021-8939021;G/A missense_variant False MUC16@p.S10845G 1 0.300970874 ENSG00000181143 chr19:8938422-8938422;T/C missense_variant False MUC16@p.S10955Y 1 0.283783784 ENSG00000181143 chr19:8938091-8938091;G/T missense_variant False MUC16@p.S11326C 1 0.110294118 ENSG00000181143 chr19:8936978-8936978;G/C missense_variant False MUC16@p.S12686F 1 0.317073171 ENSG00000181143 chr19:8906004-8906004;G/A missense_variant False MUC16@p.S1832C 1 0.294117647 ENSG00000181143 chr19:8975644-8975644;G/C missense_variant False MUC16@p.S1983F 1 0.592920354 ENSG00000181143 chr19:8975191-8975191;G/A missense_variant False MUC16@p.S2028C 1 0.130434783 ENSG00000181143 chr19:8975056-8975056;G/C missense_variant False MUC16@p.S2494F 1 0.105263158 ENSG00000181143 chr19:8973658-8973658;G/A missense_variant False MUC16@p.S2573F 1 0.220588235 ENSG00000181143 chr19:8973421-8973421;G/A missense_variant False MUC16@p.S2725C 1 0.198717949 ENSG00000181143 chr19:8972965-8972965;G/C missense_variant False MUC16@p.S2758F 1 0.246753247 ENSG00000181143 chr19:8972866-8972866;G/A missense_variant False MUC16@p.S2920L 1 0.52173913 ENSG00000181143 chr19:8972380-8972380;G/A missense_variant False MUC16@p.S296L 1 0.484210526 ENSG00000181143 chr19:8980252-8980252;G/A missense_variant False MUC16@p.Q12421H 1 0.072072072 ENSG00000181143 chr19:8910384-8910384;C/A missense_variant False MUC16@p.P7895S 1 0.371681416 ENSG00000181143 chr19:8953087-8953087;G/A missense_variant False MUC16@p.S3711C 1 0.06557377 ENSG00000181143 chr19:8965638-8965638;G/C missense_variant False MUC16@p.G1653E 1 0.46875 ENSG00000181143 chr19:8976181-8976181;C/T missense_variant False MUC16@p.G9878V 1 0.49382716 ENSG00000181143 chr19:8947137-8947137;C/A missense_variant False MUC16@p.G863E 1 0.175438596 ENSG00000181143 chr19:8978551-8978551;C/T missense_variant False MUC16@p.G666R 1 0.269230769 ENSG00000181143 chr19:8979143-8979143;C/T missense_variant False MUC16@p.G592R 1 0.358490566 ENSG00000181143 chr19:8979365-8979365;C/T missense_variant False MUC16@p.G3560S 1 0.407407407 ENSG00000181143 chr19:8966092-8966092;C/T missense_variant False MUC16@p.G3467A 1 0.176470588 ENSG00000181143 chr19:8966370-8966370;C/G missense_variant False MUC16@p.G1637V 1 0.238095238 ENSG00000181143 chr19:8976229-8976229;C/A missense_variant False MUC16@p.P6916Q 1 0.462311558 ENSG00000181143 chr19:8956023-8956023;G/T missense_variant False MUC16@p.F8576L 1 0.433333333 ENSG00000181143 chr19:8951042-8951042;G/T missense_variant False MUC16@p.F12739L 1 0.722222222 ENSG00000181143 chr19:8904695-8904695;G/T missense_variant False MUC16@p.F11786C 1 0.275 ENSG00000181143 chr19:8935598-8935598;A/C missense_variant False MUC16@p.E9937K 1 0.369791667 ENSG00000181143 chr19:8946961-8946961;C/T missense_variant False MUC16@p.E9073K 1 0.572192513 ENSG00000181143 chr19:8949553-8949553;C/T missense_variant False MUC16@p.E8036K 1 0.35 ENSG00000181143 chr19:8952664-8952664;C/T missense_variant False MUC16@p.H13086Y 1 0.10619469 ENSG00000181143 chr19:8897620-8897620;G/A missense_variant False MUC16@p.H368R 1 0.255319149 ENSG00000181143 chr19:8980036-8980036;T/C missense_variant False MUC16@p.K12711R 1 0.274509804 ENSG00000181143 chr19:8905015-8905015;T/C missense_variant False MUC16@p.K13540Q 1 0.117647059 ENSG00000181143 chr19:8888881-8888881;T/G missense_variant False MUC16@p.K3338N 1 0.109756098 ENSG00000181143 chr19:8966756-8966756;C/G missense_variant False MUC16@p.K4691N 1 0.481081081 ENSG00000181143 chr19:8962697-8962697;C/A missense_variant False MUC16@p.K975N 1 0.453488372 ENSG00000181143 chr19:8978214-8978214;C/A missense_variant False MUC16@p.L10991V 1 0.094594595 ENSG00000181143 chr19:8937984-8937984;G/C missense_variant False MUC16@p.L11045V 1 0.102189781 ENSG00000181143 chr19:8937822-8937822;G/C missense_variant False MUC16@p.M1307I 1 0.07826087 ENSG00000181143 chr19:8977218-8977218;C/T missense_variant False MUC16@p.M8192I 1 0.270833333 ENSG00000181143 chr19:8952194-8952194;C/G missense_variant False MUC16@p.M9954I 1 0.447183099 ENSG00000181143 chr19:8946908-8946908;C/A missense_variant False MUC16@p.N9858Y 1 0.486956522 ENSG00000181143 chr19:8947198-8947198;T/A missense_variant False MUC16@p.P11482Q 1 0.206185567 ENSG00000181143 chr19:8936510-8936510;G/T missense_variant False MUC16@p.P12666S 1 0.151351351 ENSG00000181143 chr19:8906323-8906323;G/A missense_variant False MUC16@p.P1491S 1 0.140794224 ENSG00000181143 chr19:8976668-8976668;G/A missense_variant False MUC16@p.P5654H 1 0.514285714 ENSG00000181143 chr19:8959809-8959809;G/T missense_variant False MUC16@p.S3002L 1 0.483606557 ENSG00000181143 chr19:8972134-8972134;G/A missense_variant False MUC16@p.S3779Y 1 0.303225806 ENSG00000181143 chr19:8965434-8965434;G/T missense_variant False MUC17@p.T2112M 1 0.144578313 ENSG00000169876 chr7:101037751-101037751;C/T missense_variant False MUC17@p.E2531Q 1 0.122685185 ENSG00000169876 chr7:101039007-101039007;G/C missense_variant False MUC17@p.G4137R 1 0.103703704 ENSG00000169876 chr7:101047989-101047989;G/A missense_variant False MUC17@p.E586Q 1 0.1953125 ENSG00000169876 chr7:101033172-101033172;G/C missense_variant False MUC17@p.E586D 1 0.12962963 ENSG00000169876 chr7:101033174-101033174;G/C missense_variant False MUC17@p.E3219K 1 0.17877095 ENSG00000169876 chr7:101041071-101041071;G/A missense_variant False MUC17@p.E2885Q 1 0.207048458 ENSG00000169876 chr7:101040069-101040069;G/C missense_variant False MUC17@p.E2826* 1 0.294642857 ENSG00000169876 chr7:101039890-101039891;-/T frameshift_variant False MUC17@p.E2512K 1 0.083832335 ENSG00000169876 chr7:101038950-101038950;G/A missense_variant False MUC16@p.Y12335C 1 0.515789474 ENSG00000181143 chr19:8914182-8914182;T/C missense_variant False MUC17@p.E2021K 1 0.182795699 ENSG00000169876 chr7:101037477-101037477;G/A missense_variant False MUC17@p.E1589D 1 0.05856833 ENSG00000169876 chr7:101036183-101036183;G/C missense_variant False MUC17@p.D4266N 1 0.252173913 ENSG00000169876 chr7:101050557-101050557;G/A missense_variant False MUC17@p.D2482H 1 0.276785714 ENSG00000169876 chr7:101038860-101038860;G/C missense_variant False MUC17@p.A8V 1 0.395348837 ENSG00000169876 chr7:101020158-101020158;C/T missense_variant False MUC16@p.Y6316C 1 0.080645161 ENSG00000181143 chr19:8957823-8957823;T/C missense_variant False MUC17@p.I882M 1 0.4342723 ENSG00000169876 chr7:101034062-101034062;C/G missense_variant False MUC17@p.L9P 1 0.454545455 ENSG00000169876 chr7:101020161-101020161;T/C missense_variant False MUC17@p.M737R 1 0.471264368 ENSG00000169876 chr7:101033626-101033626;T/G missense_variant False MUC17@p.P1555A 1 0.140939597 ENSG00000169876 chr7:101036079-101036079;C/G missense_variant False MUC17@p.P1744S 1 0.066079295 ENSG00000169876 chr7:101036646-101036646;C/T missense_variant False MUC17@p.P2457A 1 0.101663586 ENSG00000169876 chr7:101038785-101038785;C/G missense_variant False MUC17@p.P3630A 1 0.046511628 ENSG00000169876 chr7:101042304-101042304;C/G missense_variant False MUC17@p.R4101W 1 0.20979021 ENSG00000169876 chr7:101043717-101043717;C/T missense_variant False MUC17@p.S1376L 1 0.305220884 ENSG00000169876 chr7:101035543-101035543;C/T missense_variant False MUC17@p.S1724C 1 0.13381295 ENSG00000169876 chr7:101036587-101036587;C/G missense_variant False MUC17@p.S2755C 1 0.031944444 ENSG00000169876 chr7:101039679-101039679;A/T missense_variant False MUC17@p.S3149F 1 0.179104478 ENSG00000169876 chr7:101040862-101040862;C/T missense_variant False MUC17@p.S3299G 1 0.097256858 ENSG00000169876 chr7:101041311-101041311;A/G missense_variant False MUC17@p.S3438T 1 0.075731497 ENSG00000169876 chr7:101041728-101041728;T/A missense_variant False MUC17@p.S765N 1 0.127218935 ENSG00000169876 chr7:101033710-101033710;G/A missense_variant False MUC17@p.S880Y 1 0.332743363 ENSG00000169876 chr7:101034055-101034055;C/A missense_variant False MUC17@p.T1340R 1 0.273137698 ENSG00000169876 chr7:101035435-101035435;C/G missense_variant False MUC16@p.Y12593C 1 0.226027397 ENSG00000181143 chr19:8907484-8907484;T/C missense_variant False MUC16@p.V8141L 1 0.105882353 ENSG00000181143 chr19:8952349-8952349;C/G missense_variant False MUC16@p.S3927N 1 0.162162162 ENSG00000181143 chr19:8964990-8964990;C/T missense_variant False MUC16@p.S6637C 1 0.444444444 ENSG00000181143 chr19:8956860-8956860;G/C missense_variant False MUC16@p.S8064C 1 0.0625 ENSG00000181143 chr19:8952579-8952579;G/C missense_variant False MUC16@p.S7892F 1 0.144444444 ENSG00000181143 chr19:8953095-8953095;G/A missense_variant False MUC16@p.S772Y 1 0.204819277 ENSG00000181143 chr19:8978824-8978824;G/T missense_variant False MUC16@p.S7527Y 1 0.319587629 ENSG00000181143 chr19:8954190-8954190;G/T missense_variant False MUC16@p.S7009C 1 0.165898618 ENSG00000181143 chr19:8955744-8955744;G/C missense_variant False MUC16@p.S688L 1 0.532110092 ENSG00000181143 chr19:8979076-8979076;G/A missense_variant False MUC16@p.S6547C 1 0.622222222 ENSG00000181143 chr19:8957130-8957130;G/C missense_variant False MUC16@p.V12433A 1 0.231884058 ENSG00000181143 chr19:8910128-8910128;A/G missense_variant False MUC16@p.S6162Y 1 0.274193548 ENSG00000181143 chr19:8958285-8958285;G/T missense_variant False MUC16@p.S5465Y 1 0.446601942 ENSG00000181143 chr19:8960376-8960376;G/T missense_variant False MUC16@p.S5224T 1 0.620253165 ENSG00000181143 chr19:8961099-8961099;C/G missense_variant False MUC16@p.S5065A 1 0.775280899 ENSG00000181143 chr19:8961577-8961577;A/C missense_variant False MUC16@p.S4660Lfs*6 1 0.277108434 ENSG00000181143 chr19:8962793-8962794;-/A frameshift_variant False MUC16@p.S4433I 1 0.202380952 ENSG00000181143 chr19:8963472-8963472;C/A missense_variant False MUC16@p.S8066C 1 0.216049383 ENSG00000181143 chr19:8952573-8952573;G/C missense_variant False MUC16@p.S8515L 1 0.260869565 ENSG00000181143 chr19:8951226-8951226;G/A missense_variant False MUC16@p.S9296C 1 0.10619469 ENSG00000181143 chr19:8948883-8948883;G/C missense_variant False MUC16@p.S9596L 1 0.472727273 ENSG00000181143 chr19:8947983-8947983;G/A missense_variant False MUC16@p.T10109N 1 0.168103448 ENSG00000181143 chr19:8946444-8946444;G/T missense_variant False MUC16@p.T11586R 1 0.21875 ENSG00000181143 chr19:8936198-8936198;G/C missense_variant False MUC16@p.T1897N 1 0.176870748 ENSG00000181143 chr19:8975449-8975449;G/T missense_variant False MUC16@p.T2120S 1 0.303703704 ENSG00000181143 chr19:8974780-8974780;G/C missense_variant False MUC16@p.T346I 1 0.235294118 ENSG00000181143 chr19:8980102-8980102;G/A missense_variant False MUC16@p.T3712A 1 0.215469613 ENSG00000181143 chr19:8965636-8965636;T/C missense_variant False MUC16@p.T4119K 1 0.066666667 ENSG00000181143 chr19:8964414-8964414;G/T missense_variant False MUC16@p.T4125M 1 0.339622642 ENSG00000181143 chr19:8964396-8964396;G/A missense_variant False MUC16@p.T5332Pfs*7 1 0.415384615 ENSG00000181143 chr19:8960776-8960776;T/- frameshift_variant False MUC16@p.T5479A 1 0.285714286 ENSG00000181143 chr19:8960335-8960335;T/C missense_variant False MUC16@p.T8689R 1 0.204545455 ENSG00000181143 chr19:8950704-8950704;G/C missense_variant False MUC16@p.T8906I 1 0.063157895 ENSG00000181143 chr19:8950053-8950053;G/A missense_variant False MUC16@p.V10050M 1 0.404761905 ENSG00000181143 chr19:8946622-8946622;C/T missense_variant False NPAP1@p.S1033L 1 0.828571429 ENSG00000185823 chr15:24678965-24678965;C/T missense_variant False NPAP1@p.V487F 1 0.103448276 ENSG00000185823 chr15:24677326-24677326;G/T missense_variant False PEX1@p.A1228V 1 0.4 ENSG00000127980 chr7:92489377-92489377;G/A missense_variant False PARP1@p.A237Pfs*2 1 0.114285714 ENSG00000143799 chr1:226388665-226388665;T/- frameshift_variant False PARP1@p.V560L 1 0.344827586 ENSG00000143799 chr1:226379209-226379209;C/G missense_variant False PARP1@p.S904T 1 0.510638298 ENSG00000143799 chr1:226364018-226364018;C/G missense_variant False PARP1@p.E619K 1 0.60815047 ENSG00000143799 chr1:226377194-226377194;C/T missense_variant False PARP1@p.E491K 1 0.166666667 ENSG00000143799 chr1:226379994-226379994;C/T missense_variant False PARP1@p.E12G 1 0.12195122 ENSG00000143799 chr1:226407895-226407895;T/C missense_variant False PARP1@p.D805N 1 0.242424242 ENSG00000143799 chr1:226366046-226366046;C/T missense_variant False PARP15@p.S290C 1 0.180722892 ENSG00000173200 chr3:122617033-122617033;C/G missense_variant False PARP2@p.M432I 1 0.244224422 ENSG00000129484 chr14:20356617-20356617;G/A missense_variant False PARP15@p.H641D 1 0.255813953 ENSG00000173200 chr3:122635984-122635984;C/G missense_variant False PARP15@p.E523D 1 0.179487179 ENSG00000173200 chr3:122632216-122632216;G/C missense_variant False PARP14@p.V934G 1 0.152542373 ENSG00000173193 chr3:122701355-122701355;T/G missense_variant False PARP14@p.S1233F 1 0.272727273 ENSG00000173193 chr3:122713502-122713502;C/T missense_variant False PARP14@p.Q1790E 1 0.136363636 ENSG00000173193 chr3:122728559-122728559;C/G missense_variant False PARP14@p.L328V 1 0.088888889 ENSG00000173193 chr3:122699536-122699536;C/G missense_variant False PARP2@p.E500K 1 0.123076923 ENSG00000129484 chr14:20357426-20357426;G/A missense_variant False PARP2@p.S166L 1 0.135135135 ENSG00000129484 chr14:20351083-20351083;C/T missense_variant False PAX4@p.F189L 1 0.25 ENSG00000106331 chr7:127613528-127613528;G/T missense_variant False PARP4@p.G1644R 1 0.305263158 ENSG00000102699 chr13:24426515-24426515;C/T missense_variant False PARP4@p.P43A 1 0.107843137 ENSG00000102699 chr13:24503650-24503650;G/C missense_variant False PARP4@p.M1043I 1 0.098360656 ENSG00000102699 chr13:24447172-24447172;C/T missense_variant False PARP4@p.L1168F 1 0.086419753 ENSG00000102699 chr13:24442631-24442631;G/A missense_variant False PARP4@p.K1164I 1 0.17721519 ENSG00000102699 chr13:24442642-24442642;T/A missense_variant False PARP4@p.H330Y 1 0.421052632 ENSG00000102699 chr13:24492486-24492486;G/A missense_variant False PARP4@p.G618R 1 0.208053691 ENSG00000102699 chr13:24475534-24475534;C/T missense_variant False PARP4@p.E820K 1 0.092105263 ENSG00000102699 chr13:24456445-24456445;C/T missense_variant False PARP3@p.M439I 1 0.359375 ENSG00000041880 chr3:51947780-51947780;G/A missense_variant False PARP4@p.E1621Q 1 0.432835821 ENSG00000102699 chr13:24426584-24426584;C/G missense_variant False PARP4@p.E1560K 1 0.133333333 ENSG00000102699 chr13:24434463-24434463;C/T missense_variant False PARP4@p.E125K 1 0.326086957 ENSG00000102699 chr13:24500344-24500344;C/T missense_variant False PARP4@p.E1232K 1 0.21875 ENSG00000102699 chr13:24435447-24435447;C/T missense_variant False PARP4@p.E1185Q 1 0.224137931 ENSG00000102699 chr13:24441959-24441959;C/G missense_variant False PARP3@p.R317L 1 0.345454545 ENSG00000041880 chr3:51945583-51945583;G/T missense_variant False PARP14@p.L1293F 1 0.230769231 ENSG00000173193 chr3:122714308-122714308;G/C missense_variant False PARP14@p.K1589N 1 0.209677419 ENSG00000173193 chr3:122718918-122718918;G/C missense_variant False PARP14@p.K1415N 1 0.436893204 ENSG00000173193 chr3:122718396-122718396;G/T missense_variant False PARD6A@p.E288K 1 0.608695652 ENSG00000102981 chr16:67662468-67662468;G/A missense_variant False PARD6B@p.E41Q 1 0.397590361 ENSG00000124171 chr20:50737911-50737911;G/C missense_variant False PARD6B@p.D76N 1 0.657894737 ENSG00000124171 chr20:50738016-50738016;G/A missense_variant False PARD6B@p.D295Y 1 0.082474227 ENSG00000124171 chr20:50750252-50750252;G/T missense_variant False PARD6A@p.S20T 1 0.756756757 ENSG00000102981 chr16:67661097-67661097;G/C missense_variant False PARD6A@p.L216P 1 0.088235294 ENSG00000102981 chr16:67662253-67662253;T/C missense_variant False PARD6A@p.F29L 1 0.22826087 ENSG00000102981 chr16:67661478-67661478;C/A missense_variant False PARD6A@p.E204K 1 0.542857143 ENSG00000102981 chr16:67662216-67662216;G/A missense_variant False PARP14@p.G81A 1 0.208955224 ENSG00000173193 chr3:122685239-122685239;G/C missense_variant False PARD6A@p.A203T 1 0.338983051 ENSG00000102981 chr16:67662213-67662213;G/A missense_variant False PARD3B@p.V1094* 1 0.450980392 ENSG00000116117 chr2:205615475-205615475;G/- frameshift_variant False PARD3B@p.T266P 1 0.206185567 ENSG00000116117 chr2:205119036-205119036;A/C missense_variant False PARD3B@p.L489M 1 0.295774648 ENSG00000116117 chr2:205158752-205158752;C/A missense_variant False PARD3B@p.E186Q 1 0.183908046 ENSG00000116117 chr2:205104477-205104477;G/C missense_variant False PARD3B@p.D947N 1 0.098039216 ENSG00000116117 chr2:205440467-205440467;G/A missense_variant False PARD6B@p.S337C 1 0.24742268 ENSG00000124171 chr20:50750379-50750379;C/G missense_variant False PARD6G@p.V284I 1 0.208333333 ENSG00000178184 chr18:80160052-80160052;C/T missense_variant False PARK7@p.E16K 1 0.142857143 ENSG00000116288 chr1:7962831-7962831;G/A missense_variant False PARM1@p.W42C 1 0.368421053 ENSG00000169116 chr4:75012507-75012507;G/T missense_variant False PARN@p.C169Y 1 0.219512195 ENSG00000140694 chr16:14610692-14610692;C/T missense_variant False PARP10@p.E463Q 1 0.525423729 ENSG00000178685 chr8:143984615-143984615;C/G missense_variant False PARP10@p.E721K 1 0.13559322 ENSG00000178685 chr8:143983428-143983428;C/T missense_variant False PARP10@p.G338R 1 0.485507246 ENSG00000178685 chr8:143984990-143984990;C/G missense_variant False PARP10@p.R198H 1 0.391304348 ENSG00000178685 chr8:143985492-143985492;C/T missense_variant False PARP10@p.S351W 1 0.104575163 ENSG00000178685 chr8:143984950-143984950;G/C missense_variant False PARP10@p.T285M 1 0.339622642 ENSG00000178685 chr8:143985148-143985148;G/A missense_variant False PARP11@p.W221C 1 0.16 ENSG00000111224 chr12:3814074-3814074;C/G missense_variant False PARP12@p.G565S 1 0.184210526 ENSG00000059378 chr7:140026284-140026284;C/T missense_variant False PARP12@p.S681Y 1 0.202898551 ENSG00000059378 chr7:140024624-140024624;G/T missense_variant False PARP14@p.D729E 1 0.107142857 ENSG00000173193 chr3:122700741-122700741;C/G missense_variant False PARP14@p.D848N 1 0.086956522 ENSG00000173193 chr3:122701096-122701096;G/A missense_variant False PARP14@p.F57L 1 0.545454545 ENSG00000173193 chr3:122681054-122681054;C/G missense_variant False PARP4@p.Q1117H 1 0.327272727 ENSG00000102699 chr13:24446696-24446696;C/G missense_variant False PARP4@p.R1620T 1 0.169491525 ENSG00000102699 chr13:24426586-24426586;C/G missense_variant False PARP6@p.D588E 1 0.144444444 ENSG00000137817 chr15:72241927-72241927;G/T missense_variant False PATJ@p.S712L 1 0.213114754 ENSG00000132849 chr1:61856052-61856052;C/T missense_variant False PATZ1@p.D678H 1 0.189189189 ENSG00000100105 chr22:31326923-31326923;C/G missense_variant False PATL1@p.Q160Pfs*6 1 0.303030303 ENSG00000166889 chr11:59657672-59657673;-/G frameshift_variant False PATL1@p.L544I 1 0.611111111 ENSG00000166889 chr11:59649565-59649565;G/T missense_variant False PATL1@p.E549K 1 0.361111111 ENSG00000166889 chr11:59649550-59649550;C/T missense_variant False PATJ@p.S902Y 1 0.330275229 ENSG00000132849 chr1:61864503-61864503;C/A missense_variant False PATJ@p.S797L 1 0.346938776 ENSG00000132849 chr1:61861618-61861618;C/T missense_variant False PATJ@p.S333L 1 0.240740741 ENSG00000132849 chr1:61787902-61787902;C/T missense_variant False PASK@p.Q468H 1 0.098039216 ENSG00000115687 chr2:241132933-241132933;C/G missense_variant False PATJ@p.Q922E 1 0.514705882 ENSG00000132849 chr1:61864562-61864562;C/G missense_variant False PATJ@p.P1420A 1 0.245901639 ENSG00000132849 chr1:62084529-62084529;C/G missense_variant False PATJ@p.H190Q 1 0.324324324 ENSG00000132849 chr1:61771476-61771476;C/G missense_variant False PATJ@p.G261V 1 0.380952381 ENSG00000132849 chr1:61775267-61775267;G/T missense_variant False PATJ@p.F47L 1 0.118181818 ENSG00000132849 chr1:61763131-61763131;C/G missense_variant False PATJ@p.E1678Q 1 0.16 ENSG00000132849 chr1:62123047-62123047;G/C missense_variant False PATZ1@p.P329A 1 0.526315789 ENSG00000100105 chr22:31344618-31344618;G/C missense_variant False PATZ1@p.R265Q 1 0.428571429 ENSG00000100105 chr22:31344809-31344809;C/T missense_variant False PATZ1@p.S654Y 1 0.215686275 ENSG00000100105 chr22:31326994-31326994;G/T missense_variant False PATZ1@p.T437I 1 0.090909091 ENSG00000100105 chr22:31342922-31342922;G/A missense_variant False PAWR@p.D315H 1 0.212765957 ENSG00000177425 chr12:79592687-79592687;C/G missense_variant False PAWR@p.E178K 1 0.078431373 ENSG00000177425 chr12:79621192-79621192;C/T missense_variant False PAX1@p.E235K 1 0.384615385 ENSG00000125813 chr20:21706854-21706854;G/A missense_variant False PAX1@p.G385V 1 0.489361702 ENSG00000125813 chr20:21709316-21709316;G/T missense_variant False PAX1@p.L161M 1 0.191111111 ENSG00000125813 chr20:21706632-21706632;C/A missense_variant False PAX1@p.P371S 1 0.203883495 ENSG00000125813 chr20:21709273-21709273;C/T missense_variant False PAX1@p.R171C 1 0.12 ENSG00000125813 chr20:21706662-21706662;C/T missense_variant False PAX1@p.V214L 1 0.273504274 ENSG00000125813 chr20:21706791-21706791;G/C missense_variant False PAX2@p.E314Q 1 0.229166667 ENSG00000075891 chr10:100809188-100809188;G/C missense_variant False PAX2@p.R248Q 1 0.273504274 ENSG00000075891 chr10:100806487-100806487;G/A missense_variant False PAX3@p.A272E 1 0.236363636 ENSG00000135903 chr2:222221365-222221365;G/T missense_variant False PAX3@p.G279E 1 0.936363636 ENSG00000135903 chr2:222221344-222221344;C/T missense_variant False PAX3@p.H242D 1 0.465517241 ENSG00000135903 chr2:222232146-222232146;G/C missense_variant False PATJ@p.E1526Q 1 0.333333333 ENSG00000132849 chr1:62114167-62114167;G/C missense_variant False PASK@p.P684S 1 0.433121019 ENSG00000115687 chr2:241126865-241126865;G/A missense_variant False PARP6@p.I50M 1 0.197183099 ENSG00000137817 chr15:72265923-72265923;G/C missense_variant False PARP8@p.V252I 1 0.215384615 ENSG00000151883 chr5:50794223-50794223;G/A missense_variant False PARP9@p.S93C 1 0.320754717 ENSG00000138496 chr3:122555998-122555998;G/C missense_variant False PARP9@p.R617Q 1 0.269230769 ENSG00000138496 chr3:122540492-122540492;C/T missense_variant False PARP9@p.Q657E 1 0.152173913 ENSG00000138496 chr3:122536975-122536975;G/C missense_variant False PARP9@p.E747K 1 0.372093023 ENSG00000138496 chr3:122528690-122528690;C/T missense_variant False PARP9@p.D126H 1 0.12195122 ENSG00000138496 chr3:122555900-122555900;C/G missense_variant False PARP8@p.Y219C 1 0.142857143 ENSG00000151883 chr5:50778636-50778636;A/G missense_variant False PARP8@p.S439L 1 0.294871795 ENSG00000151883 chr5:50795305-50795305;C/T missense_variant False PASK@p.E1296K 1 0.067567568 ENSG00000115687 chr2:241106652-241106652;C/T missense_variant False PARP8@p.Q669E 1 0.16091954 ENSG00000151883 chr5:50827971-50827971;C/G missense_variant False PARP8@p.P597L 1 0.247933884 ENSG00000151883 chr5:50821334-50821334;C/T missense_variant False PARP8@p.K627N 1 0.488888889 ENSG00000151883 chr5:50824928-50824928;G/T missense_variant False PARP8@p.K438M 1 0.3 ENSG00000151883 chr5:50795302-50795302;A/T missense_variant False PARP8@p.F32L 1 0.282208589 ENSG00000151883 chr5:50668075-50668075;C/A missense_variant False PARP8@p.E80V 1 0.751633987 ENSG00000151883 chr5:50759697-50759697;A/T missense_variant False PARP9@p.W201C 1 0.5 ENSG00000138496 chr3:122555673-122555673;C/G missense_variant False PARPBP@p.E362K 1 0.137931034 ENSG00000185480 chr12:102178670-102178670;G/A missense_variant False PARPBP@p.E409D 1 0.40625 ENSG00000185480 chr12:102182591-102182591;A/T missense_variant False PARPBP@p.L459F 1 0.090909091 ENSG00000185480 chr12:102195423-102195423;C/T missense_variant False PARPBP@p.R489K 1 0.285714286 ENSG00000185480 chr12:102196017-102196017;G/A missense_variant False PARPBP@p.S150C 1 0.13592233 ENSG00000185480 chr12:102153930-102153930;C/G missense_variant False PARS2@p.E267K 1 0.340909091 ENSG00000162396 chr1:54758363-54758363;C/T missense_variant False PARS2@p.I347M 1 0.09178744 ENSG00000162396 chr1:54758121-54758121;G/C missense_variant False PARS2@p.R52W 1 0.08 ENSG00000162396 chr1:54759008-54759008;G/A missense_variant False PARVB@p.E274Q 1 0.25 ENSG00000188677 chr22:44151528-44151528;G/C missense_variant False PARVB@p.K46N 1 0.333333333 ENSG00000188677 chr22:44093953-44093953;G/C missense_variant False PARVB@p.M292I 1 0.175 ENSG00000188677 chr22:44158014-44158014;G/T missense_variant False PARVB@p.R25S 1 0.267175573 ENSG00000188677 chr22:43999537-43999537;G/T missense_variant False PARVB@p.S223L 1 0.543859649 ENSG00000188677 chr22:44136494-44136494;C/T missense_variant False PARVG@p.Q222H 1 0.129032258 ENSG00000138964 chr22:44196370-44196370;G/C missense_variant False PASD1@p.E292K 1 0.933333333 ENSG00000166049 chrX:151664151-151664151;G/A missense_variant False PASD1@p.E695Q 1 0.895833333 ENSG00000166049 chrX:151674094-151674094;G/C missense_variant False PARD3B@p.A537T 1 0.405405405 ENSG00000116117 chr2:205158896-205158896;G/A missense_variant False PARD3B@p.A110T 1 0.533333333 ENSG00000116117 chr2:204965257-204965257;G/A missense_variant False PARD3@p.S433Y 1 0.436170213 ENSG00000148498 chr10:34382641-34382641;G/T missense_variant False PANX2@p.V378L 1 0.444444444 ENSG00000073150 chr22:50177844-50177844;G/T missense_variant False PAPLN@p.G452D 1 0.711340206 ENSG00000100767 chr14:73254565-73254565;G/A missense_variant False PAOX@p.Q257H 1 0.882352941 ENSG00000254536 chr10:133381562-133381562;G/T missense_variant False PAOX@p.L325Q 1 0.08490566 ENSG00000254536 chr10:133384065-133384065;T/A missense_variant False PAOX@p.E129K 1 0.25 ENSG00000254536 chr10:133380202-133380202;G/A missense_variant False PANX3@p.S275F 1 0.315068493 ENSG00000154143 chr11:124619580-124619580;C/T missense_variant False PANX3@p.D389H 1 0.425742574 ENSG00000154143 chr11:124619921-124619921;G/C missense_variant False PANX2@p.K175E 1 0.153846154 ENSG00000073150 chr22:50177235-50177235;A/G missense_variant False PANK3@p.L221V 1 0.468085106 ENSG00000120137 chr5:168564040-168564040;A/C missense_variant False PANX1@p.Y150C 1 0.203125 ENSG00000110218 chr11:94178496-94178496;A/G missense_variant False PANX1@p.Q89E 1 0.457627119 ENSG00000110218 chr11:94153574-94153574;C/G missense_variant False PANK4@p.V61L 1 0.243386243 ENSG00000157881 chr1:2521744-2521744;C/G missense_variant False PANK4@p.E97D 1 0.106796117 ENSG00000157881 chr1:2521232-2521232;C/G missense_variant False PANK4@p.E72K 1 0.27184466 ENSG00000157881 chr1:2521309-2521309;C/T missense_variant False PANK4@p.A622V 1 0.138888889 ENSG00000157881 chr1:2510751-2510751;G/A missense_variant False PAPLN@p.G691R 1 0.528301887 ENSG00000100767 chr14:73260794-73260794;G/A missense_variant False PAPLN@p.R105W 1 0.25 ENSG00000100767 chr14:73246154-73246154;C/T missense_variant False PAPLN@p.S1267L 1 0.192307692 ENSG00000100767 chr14:73272627-73272627;C/T missense_variant False PAPOLA@p.E350K 1 0.210526316 ENSG00000090060 chr14:96536993-96536993;G/A missense_variant False PAPOLA@p.E357K 1 0.08974359 ENSG00000090060 chr14:96537014-96537014;G/A missense_variant False PAPOLA@p.E426K 1 0.11814346 ENSG00000090060 chr14:96542880-96542880;G/A missense_variant False PAPOLA@p.G648V 1 0.164948454 ENSG00000090060 chr14:96556352-96556352;G/T missense_variant False PAPOLA@p.I347V 1 0.315789474 ENSG00000090060 chr14:96536984-96536984;A/G missense_variant False PAPOLA@p.K407N 1 0.306122449 ENSG00000090060 chr14:96542825-96542825;G/C missense_variant False PAPOLA@p.L85V 1 0.344827586 ENSG00000090060 chr14:96525313-96525313;C/G missense_variant False PAPOLA@p.P606T 1 0.171171171 ENSG00000090060 chr14:96556225-96556225;C/A missense_variant False PAPOLA@p.S10P 1 0.26984127 ENSG00000090060 chr14:96520074-96520074;T/C missense_variant False PAPOLA@p.V269A 1 0.086419753 ENSG00000090060 chr14:96532619-96532619;T/C missense_variant False PAPOLB@p.E531Q 1 0.567567568 ENSG00000218823 chr7:4860220-4860220;C/G missense_variant False PAPOLB@p.P499H 1 0.260273973 ENSG00000218823 chr7:4860315-4860315;G/T missense_variant False PAPOLB@p.R256I 1 0.428571429 ENSG00000218823 chr7:4861044-4861044;C/A missense_variant False PAPOLB@p.R62M 1 0.469387755 ENSG00000218823 chr7:4861626-4861626;C/A missense_variant False PANK3@p.P184A 1 0.31884058 ENSG00000120137 chr5:168566098-168566098;G/C missense_variant False PANK3@p.E229K 1 0.126984127 ENSG00000120137 chr5:168564016-168564016;C/T missense_variant False PAPOLG@p.L387V 1 0.272727273 ENSG00000115421 chr2:60783202-60783202;C/G missense_variant False PAN2@p.D902N 1 0.241935484 ENSG00000135473 chr12:56322428-56322428;C/T missense_variant False PAN2@p.L169V 1 0.244897959 ENSG00000135473 chr12:56328306-56328306;G/C missense_variant False PAN2@p.E793K 1 0.396296296 ENSG00000135473 chr12:56323190-56323190;C/T missense_variant False PAN2@p.E351K 1 0.202702703 ENSG00000135473 chr12:56326828-56326828;C/T missense_variant False PAN2@p.E195Q 1 0.265306122 ENSG00000135473 chr12:56328063-56328063;C/G missense_variant False PAN2@p.E1185K 1 0.144444444 ENSG00000135473 chr12:56318258-56318258;C/T missense_variant False PAN2@p.E1020D 1 0.205882353 ENSG00000135473 chr12:56319663-56319663;C/A missense_variant False PAN2@p.D391V 1 0.45 ENSG00000135473 chr12:56326707-56326707;T/A missense_variant False PANK3@p.D150Y 1 0.329896907 ENSG00000120137 chr5:168566200-168566200;C/A missense_variant False PAN2@p.D233H 1 0.529411765 ENSG00000135473 chr12:56327586-56327586;C/G missense_variant False PAN2@p.D165N 1 0.275280899 ENSG00000135473 chr12:56328318-56328318;C/T missense_variant False PAN2@p.C312Vfs*15 1 0.258064516 ENSG00000135473 chr12:56326946-56326946;G/- frameshift_variant False PAMR1@p.V607M 1 0.157142857 ENSG00000149090 chr11:35432700-35432700;C/T missense_variant False PAMR1@p.Q50H 1 0.166666667 ENSG00000149090 chr11:35494196-35494196;C/G missense_variant False PAM@p.W535L 1 0.394736842 ENSG00000145730 chr5:102990392-102990392;G/T missense_variant False PAN2@p.L431V 1 0.214285714 ENSG00000135473 chr12:56326381-56326381;G/C missense_variant False PAN2@p.L563Q 1 0.075268817 ENSG00000135473 chr12:56324621-56324621;A/T missense_variant False PAN2@p.M202K 1 0.133333333 ENSG00000135473 chr12:56328041-56328041;A/T missense_variant False PAN2@p.Q112E 1 0.214285714 ENSG00000135473 chr12:56328590-56328590;G/C missense_variant False PAN2@p.R582W 1 0.666666667 ENSG00000135473 chr12:56324478-56324478;G/A missense_variant False PAN2@p.S219F 1 0.063829787 ENSG00000135473 chr12:56327627-56327627;G/A missense_variant False PAN3@p.G704A 1 0.078947368 ENSG00000152520 chr13:28277298-28277298;G/C missense_variant False PAN3@p.H320Y 1 0.192708333 ENSG00000152520 chr13:28220336-28220336;C/T missense_variant False PAN3@p.H422Y 1 0.314606742 ENSG00000152520 chr13:28260462-28260462;C/T missense_variant False PAN3@p.I688K 1 0.133333333 ENSG00000152520 chr13:28277250-28277250;T/A missense_variant False PAN3@p.V549I 1 0.153409091 ENSG00000152520 chr13:28267166-28267166;G/A missense_variant False PANK1@p.G481E 1 0.312252964 ENSG00000152782 chr10:89593858-89593858;C/T missense_variant False PANK1@p.G490R 1 0.047008547 ENSG00000152782 chr10:89593832-89593832;C/T missense_variant False PANK1@p.M532I 1 0.436363636 ENSG00000152782 chr10:89593212-89593212;C/T missense_variant False PANK2@p.G462A 1 0.152173913 ENSG00000125779 chr20:3912607-3912607;G/C missense_variant False PANK2@p.S189C 1 0.153846154 ENSG00000125779 chr20:3889666-3889666;C/G missense_variant False PANK2@p.S21F 1 0.542857143 ENSG00000125779 chr20:3889162-3889162;C/T missense_variant False PAPOLG@p.E564K 1 0.1 ENSG00000115421 chr2:60793637-60793637;G/A missense_variant False PAPOLG@p.Y102C 1 0.164835165 ENSG00000115421 chr2:60768528-60768528;A/G missense_variant False PARD3@p.S417C 1 0.183908046 ENSG00000148498 chr10:34382689-34382689;G/C missense_variant False PAQR7@p.F254S 1 0.357142857 ENSG00000182749 chr1:25863079-25863079;A/G missense_variant False PAQR8@p.R200S 1 0.363636364 ENSG00000170915 chr6:52403811-52403811;C/A missense_variant False PAQR8@p.P206L 1 0.168539326 ENSG00000170915 chr6:52403830-52403830;C/T missense_variant False PAQR8@p.L289Cfs*53 1 0.166666667 ENSG00000170915 chr6:52404078-52404078;C/- frameshift_variant False PAQR8@p.H162D 1 0.207650273 ENSG00000170915 chr6:52403697-52403697;C/G missense_variant False PAQR7@p.P40S 1 0.290322581 ENSG00000182749 chr1:25863722-25863722;G/A missense_variant False PAQR7@p.F254V 1 0.333333333 ENSG00000182749 chr1:25863080-25863080;A/C missense_variant False PAQR6@p.T49M 1 0.333333333 ENSG00000160781 chr1:156246156-156246156;G/A missense_variant False PAPSS1@p.D189N 1 0.473684211 ENSG00000138801 chr4:107682119-107682119;C/T missense_variant False PAQR6@p.E243K 1 0.173076923 ENSG00000160781 chr1:156244794-156244794;C/T missense_variant False PAQR4@p.G257S 1 0.135135135 ENSG00000162073 chr16:2971895-2971895;G/A missense_variant False PAPSS2@p.E240K 1 0.419354839 ENSG00000198682 chr10:87715063-87715063;G/A missense_variant False PAPSS2@p.D381N 1 0.390625 ENSG00000198682 chr10:87741304-87741304;G/A missense_variant False PAPSS1@p.V520F 1 0.173913043 ENSG00000138801 chr4:107631809-107631809;C/A missense_variant False PAPSS1@p.P198Lfs*5 1 0.333333333 ENSG00000138801 chr4:107682091-107682091;G/- frameshift_variant False PAQR8@p.S190F 1 0.103092784 ENSG00000170915 chr6:52403782-52403782;C/T missense_variant False PAQR8@p.W246S 1 0.113207547 ENSG00000170915 chr6:52403950-52403950;G/C missense_variant False PARD3@p.A498Gfs*9 1 0.186440678 ENSG00000148498 chr10:34378013-34378014;-/C frameshift_variant False PARD3@p.D60Pfs*6 1 0.214689266 ENSG00000148498 chr10:34696352-34696362;TCATCAAGGTC/G frameshift_variant False PARD3@p.D709N 1 0.137931034 ENSG00000148498 chr10:34348058-34348058;C/T missense_variant False PARD3@p.D934N 1 0.372340426 ENSG00000148498 chr10:34331159-34331159;C/T missense_variant False PARD3@p.E1105K 1 0.347222222 ENSG00000148498 chr10:34269772-34269772;C/T missense_variant False PARD3@p.E585K 1 0.133333333 ENSG00000148498 chr10:34360214-34360214;C/T missense_variant False PARD3@p.E762Afs*9 1 0.318181818 ENSG00000148498 chr10:34341748-34341761;ACCTGTCATCTTCT/- frameshift_variant False PARD3@p.G497V 1 0.059701493 ENSG00000148498 chr10:34378016-34378016;C/A missense_variant False PARD3@p.G793C 1 0.090909091 ENSG00000148498 chr10:34341667-34341667;C/A missense_variant False PARD3@p.I512V 1 0.31147541 ENSG00000148498 chr10:34377972-34377972;T/C missense_variant False PARD3@p.K653N 1 0.34751773 ENSG00000148498 chr10:34359255-34359255;C/G missense_variant False PARD3@p.Q1181E 1 0.213333333 ENSG00000148498 chr10:34131471-34131471;G/C missense_variant False PARD3@p.R392K 1 0.121212121 ENSG00000148498 chr10:34382764-34382764;C/T missense_variant False PARD3@p.R50C 1 0.5 ENSG00000148498 chr10:34696392-34696392;G/A missense_variant False PARD3@p.R50G 1 0.133144476 ENSG00000148498 chr10:34696392-34696392;G/C missense_variant False PAPSS1@p.G427A 1 0.111111111 ENSG00000138801 chr4:107645028-107645028;C/G missense_variant False PAPSS1@p.A123P 1 0.196721311 ENSG00000138801 chr4:107693815-107693815;C/G missense_variant False PAPPA2@p.A1095D 1 0.301587302 ENSG00000116183 chr1:176702654-176702654;C/A missense_variant False PAPPA2@p.G736E 1 0.126760563 ENSG00000116183 chr1:176690206-176690206;G/A missense_variant False PAPPA2@p.T502I 1 0.108695652 ENSG00000116183 chr1:176595109-176595109;C/T missense_variant False PAPPA2@p.T179N 1 0.087719298 ENSG00000116183 chr1:176556858-176556858;C/A missense_variant False PAPPA2@p.S859F 1 0.261682243 ENSG00000116183 chr1:176692270-176692270;C/T missense_variant False PAPPA2@p.P469S 1 0.21875 ENSG00000116183 chr1:176595009-176595009;C/T missense_variant False PAPPA2@p.P1348S 1 0.157894737 ENSG00000116183 chr1:176740087-176740087;C/T missense_variant False PAPPA2@p.P1224A 1 0.171717172 ENSG00000116183 chr1:176711853-176711853;C/G missense_variant False PAPPA2@p.G149V 1 0.098214286 ENSG00000116183 chr1:176556768-176556768;G/T missense_variant False PAPPA@p.S148L 1 0.12 ENSG00000182752 chr9:116187181-116187181;C/T missense_variant False PAPPA2@p.G1131A 1 0.120689655 ENSG00000116183 chr1:176706385-176706385;G/C missense_variant False PAPPA2@p.E48K 1 0.046511628 ENSG00000116183 chr1:176556464-176556464;G/A missense_variant False PAPPA2@p.E1171Q 1 0.06547619 ENSG00000116183 chr1:176710036-176710036;G/C missense_variant False PAPPA2@p.D1261N 1 0.079545455 ENSG00000116183 chr1:176711964-176711964;G/A missense_variant False PAPPA2@p.A914T 1 0.101123596 ENSG00000116183 chr1:176695853-176695853;G/A missense_variant False PAPPA2@p.A193V 1 0.076923077 ENSG00000116183 chr1:176556900-176556900;C/T missense_variant False PAPPA2@p.T655N 1 0.514285714 ENSG00000116183 chr1:176595568-176595568;C/A missense_variant False PAPPA2@p.W1505R 1 0.054945055 ENSG00000116183 chr1:176770978-176770978;T/A missense_variant False PAPPA2@p.W1703L 1 0.45 ENSG00000116183 chr1:176793647-176793647;G/T missense_variant False PAPPA2@p.Y1089D 1 0.491525424 ENSG00000116183 chr1:176702635-176702635;T/G missense_variant False PAPPA@p.C1314R 1 0.882352941 ENSG00000182752 chr9:116347185-116347185;T/C missense_variant False PAPPA@p.C1362Y 1 0.142857143 ENSG00000182752 chr9:116352826-116352826;G/A missense_variant False PAPPA@p.E422G 1 0.350877193 ENSG00000182752 chr9:116188003-116188003;A/G missense_variant False PAPPA@p.F228L 1 0.202531646 ENSG00000182752 chr9:116187422-116187422;C/G missense_variant False PAPPA@p.F517S 1 0.263157895 ENSG00000182752 chr9:116207527-116207527;T/C missense_variant False PAPPA@p.H1290Y 1 0.102564103 ENSG00000182752 chr9:116347113-116347113;C/T missense_variant False PAPPA@p.H453R 1 0.095238095 ENSG00000182752 chr9:116188096-116188096;A/G missense_variant False PAPPA@p.L879I 1 0.442622951 ENSG00000182752 chr9:116235540-116235540;C/A missense_variant False PAPPA@p.M963I 1 0.388888889 ENSG00000182752 chr9:116271352-116271352;G/C missense_variant False PAPPA@p.P1338A 1 0.553191489 ENSG00000182752 chr9:116352753-116352753;C/G missense_variant False PAPPA@p.Q1292E 1 0.689655172 ENSG00000182752 chr9:116347119-116347119;C/G missense_variant False PAPPA@p.R1388W 1 0.545454545 ENSG00000182752 chr9:116352903-116352903;C/T missense_variant False PAPPA@p.R989Q 1 0.28358209 ENSG00000182752 chr9:116302769-116302769;G/A missense_variant False PAX3@p.L87R 1 0.113636364 ENSG00000135903 chr2:222297039-222297039;A/C missense_variant False PAX4@p.G74R 1 0.5390625 ENSG00000106331 chr7:127615020-127615020;C/T missense_variant False OR8B4@p.S7F 1 0.28 ENSG00000280090 chr11:124424852-124424852;G/A missense_variant False PCDH15@p.R245Q 1 0.75 ENSG00000150275 chr10:54317413-54317413;C/T missense_variant False PCDH17@p.A333S 1 0.3 ENSG00000118946 chr13:57633543-57633543;G/T missense_variant False PCDH15@p.V631D 1 0.40625 ENSG00000150275 chr10:54132900-54132900;A/T missense_variant False PCDH15@p.T1661I 1 0.392 ENSG00000150275 chr10:53806820-53806820;G/A missense_variant False PCDH15@p.S1703L 1 0.344827586 ENSG00000150275 chr10:53822618-53822618;G/A missense_variant False PCDH15@p.S1610F 1 0.28125 ENSG00000150275 chr10:53806973-53806973;G/A missense_variant False PCDH15@p.S1362N 1 0.460784314 ENSG00000150275 chr10:53831432-53831432;C/T missense_variant False PCDH15@p.R1323T 1 0.262857143 ENSG00000150275 chr10:53840335-53840335;C/G missense_variant False PCDH17@p.D1094Y 1 0.152941176 ENSG00000118946 chr13:57725094-57725094;G/T missense_variant False PCDH15@p.Q1876E 1 0.461538462 ENSG00000150275 chr10:53822100-53822100;G/C missense_variant False PCDH15@p.Q1145E 1 0.46835443 ENSG00000150275 chr10:53903311-53903311;G/C missense_variant False PCDH15@p.P71R 1 0.046511628 ENSG00000150275 chr10:54378888-54378888;G/C missense_variant False PCDH15@p.P1522S 1 0.357142857 ENSG00000150275 chr10:53809501-53809501;G/A missense_variant False PCDH15@p.N1526Kfs*278 1 0.11965812 ENSG00000150275 chr10:53809522-53809523;-/T frameshift_variant False PCDH15@p.L261F 1 0.340909091 ENSG00000150275 chr10:54317364-54317364;C/A missense_variant False PCDH17@p.A554V 1 0.470588235 ENSG00000118946 chr13:57634207-57634207;C/T missense_variant False PCDH17@p.D80N 1 0.368421053 ENSG00000118946 chr13:57632784-57632784;G/A missense_variant False PAX5@p.I301V 1 0.155339806 ENSG00000196092 chr9:36923364-36923364;T/C missense_variant True PCDH18@p.L198F 1 0.2 ENSG00000189184 chr4:137531497-137531497;G/A missense_variant False PCDH19@p.Q525R 1 0.321917808 ENSG00000165194 chrX:100407024-100407024;T/C missense_variant False PCDH19@p.P7L 1 0.333333333 ENSG00000165194 chrX:100408578-100408578;G/A missense_variant False PCDH19@p.N580K 1 0.580645161 ENSG00000165194 chrX:100406858-100406858;G/C missense_variant False PCDH19@p.L1129Q 1 0.138888889 ENSG00000165194 chrX:100296338-100296338;A/T missense_variant False PCDH19@p.L1075V 1 0.419354839 ENSG00000165194 chrX:100296501-100296501;G/C missense_variant False PCDH19@p.E167Q 1 0.888888889 ENSG00000165194 chrX:100408099-100408099;C/G missense_variant False PCDH18@p.G27R 1 0.147058824 ENSG00000189184 chr4:137532010-137532010;C/G missense_variant False PCDH17@p.P349L 1 0.891891892 ENSG00000118946 chr13:57633592-57633592;C/T missense_variant False PCDH18@p.E727D 1 0.352941176 ENSG00000189184 chr4:137529908-137529908;C/G missense_variant False PCDH18@p.E595K 1 0.30859375 ENSG00000189184 chr4:137530306-137530306;C/T missense_variant False PCDH18@p.E321K 1 0.138888889 ENSG00000189184 chr4:137531128-137531128;C/T missense_variant False PCDH17@p.S514L 1 0.553191489 ENSG00000118946 chr13:57634087-57634087;C/T missense_variant False PCDH17@p.S240N 1 0.363636364 ENSG00000118946 chr13:57633265-57633265;G/A missense_variant False PCDH17@p.Q322L 1 0.243697479 ENSG00000118946 chr13:57633511-57633511;A/T missense_variant False PCDH15@p.I214T 1 0.427631579 ENSG00000150275 chr10:54329660-54329660;A/G missense_variant False PCDH15@p.H339Pfs*5 1 0.131147541 ENSG00000150275 chr10:54214020-54214021;-/A frameshift_variant False PCDH15@p.G1295E 1 0.22 ENSG00000150275 chr10:53840419-53840419;C/T missense_variant False PCDH12@p.E1122K 1 0.333333333 ENSG00000113555 chr5:141945572-141945572;C/T missense_variant False PCDH12@p.Q971E 1 0.206451613 ENSG00000113555 chr5:141951560-141951560;G/C missense_variant False PCDH12@p.L588M 1 0.647058824 ENSG00000113555 chr5:141956090-141956090;G/T missense_variant False PCDH12@p.L477V 1 0.672413793 ENSG00000113555 chr5:141956423-141956423;G/C missense_variant False PCDH12@p.F850L 1 0.221153846 ENSG00000113555 chr5:141955302-141955302;G/C missense_variant False PCDH12@p.F209L 1 0.461538462 ENSG00000113555 chr5:141957225-141957225;A/C missense_variant False PCDH12@p.E421K 1 0.336134454 ENSG00000113555 chr5:141956591-141956591;C/T missense_variant False PCDH12@p.A357V 1 0.303030303 ENSG00000113555 chr5:141956782-141956782;G/A missense_variant False PCDH15@p.E873Q 1 0.371134021 ENSG00000150275 chr10:54020326-54020326;C/G missense_variant False PCDH12@p.A268T 1 0.421875 ENSG00000113555 chr5:141957050-141957050;C/T missense_variant False PCDH11Y@p.S82L 1 0.919354839 ENSG00000099715 chrY:5057068-5057068;C/T missense_variant False PCDH11Y@p.Q1196Dfs*67 1 0.356164384 ENSG00000099715 chrY:5737502-5737503;AC/- frameshift_variant False PCDH11Y@p.N805Y 1 0.120481928 ENSG00000099715 chrY:5099991-5099991;A/T missense_variant False PCDH11Y@p.N805K 1 0.120481928 ENSG00000099715 chrY:5099993-5099993;T/A missense_variant False PCDH11Y@p.M518I 1 0.25862069 ENSG00000099715 chrY:5099132-5099132;G/A missense_variant False PCDH12@p.R401G 1 0.294736842 ENSG00000113555 chr5:141956651-141956651;T/C missense_variant False PCDH12@p.S383L 1 0.170542636 ENSG00000113555 chr5:141956704-141956704;G/A missense_variant False PCDH15@p.A1418T 1 0.513157895 ENSG00000150275 chr10:53827508-53827508;C/T missense_variant False PCDH15@p.A1421T 1 0.5 ENSG00000150275 chr10:53827499-53827499;C/T missense_variant False PCDH15@p.A1434V 1 0.164556962 ENSG00000150275 chr10:53827459-53827459;G/A missense_variant False PCDH15@p.A1548Ifs*3 1 0.131386861 ENSG00000150275 chr10:53809387-53809424;CTCTAACTTTCTTAAAAATCATGGGGAATATTCTGGCT/- frameshift_variant False PCDH15@p.A1766V 1 0.2 ENSG00000150275 chr10:53808768-53808768;G/A missense_variant False PCDH15@p.D1136N 1 0.444444444 ENSG00000150275 chr10:53903338-53903338;C/T missense_variant False PCDH15@p.D1336H 1 0.470588235 ENSG00000150275 chr10:53831511-53831511;C/G missense_variant False PCDH15@p.D696N 1 0.115107914 ENSG00000150275 chr10:54079336-54079336;C/T missense_variant False PCDH15@p.E1155K 1 0.493670886 ENSG00000150275 chr10:53903281-53903281;C/T missense_variant False PCDH15@p.E1449K 1 0.264150943 ENSG00000150275 chr10:53827415-53827415;C/T missense_variant False PCDH15@p.E1742K 1 0.25 ENSG00000150275 chr10:53808841-53808841;C/T missense_variant False PCDH15@p.E1784K 1 0.1875 ENSG00000150275 chr10:53808715-53808715;C/T missense_variant False PCDH15@p.E243D 1 0.242857143 ENSG00000150275 chr10:54317418-54317418;C/G missense_variant False PCDH15@p.E491K 1 0.122807018 ENSG00000150275 chr10:54183563-54183563;C/T missense_variant False PCDH15@p.E829K 1 0.941605839 ENSG00000150275 chr10:54022933-54022933;C/T missense_variant False PCDH19@p.R579H 1 0.940298507 ENSG00000165194 chrX:100406862-100406862;C/T missense_variant False PCDH19@p.R612Pfs*5 1 0.62962963 ENSG00000165194 chrX:100406763-100406764;-/G frameshift_variant False PCDH19@p.S350P 1 0.853658537 ENSG00000165194 chrX:100407550-100407550;A/G missense_variant False PCDH9@p.F110L 1 0.537735849 ENSG00000184226 chr13:67228111-67228111;G/T missense_variant False PCDH9@p.P907A 1 0.192307692 ENSG00000184226 chr13:67225722-67225722;G/C missense_variant False PCDH9@p.N53S 1 0.70212766 ENSG00000184226 chr13:67228283-67228283;T/C missense_variant False PCDH9@p.M709I 1 0.095238095 ENSG00000184226 chr13:67226314-67226314;C/T missense_variant False PCDH9@p.L26R 1 0.19047619 ENSG00000184226 chr13:67228364-67228364;A/C missense_variant False PCDH9@p.K300E 1 0.541284404 ENSG00000184226 chr13:67227543-67227543;T/C missense_variant False PCDH9@p.G268R 1 0.52892562 ENSG00000184226 chr13:67227639-67227639;C/G missense_variant False PCDH9@p.E898K 1 0.421568627 ENSG00000184226 chr13:67225749-67225749;C/T missense_variant False PCDH8@p.M55V 1 0.308943089 ENSG00000136099 chr13:52848274-52848274;T/C missense_variant False PCDH9@p.E197Q 1 0.517241379 ENSG00000184226 chr13:67227852-67227852;C/G missense_variant False PCDH9@p.D953N 1 0.205263158 ENSG00000184226 chr13:67225584-67225584;C/T missense_variant False PCDH9@p.A441D 1 0.352941176 ENSG00000184226 chr13:67227119-67227119;G/T missense_variant False PCDH8@p.V347I 1 0.2 ENSG00000136099 chr13:52847398-52847398;C/T missense_variant False PCDH8@p.R776C 1 0.117647059 ENSG00000136099 chr13:52846111-52846111;G/A missense_variant False PCDH8@p.Q602H 1 0.333333333 ENSG00000136099 chr13:52846631-52846631;C/G missense_variant False PCDH9@p.P925Q 1 0.52173913 ENSG00000184226 chr13:67225667-67225667;G/T missense_variant False PCDH9@p.Q1131E 1 0.385714286 ENSG00000184226 chr13:66304978-66304978;G/C missense_variant False PCDH9@p.R798K 1 0.333333333 ENSG00000184226 chr13:67226048-67226048;C/T missense_variant False PCDH9@p.S270C 1 0.245098039 ENSG00000184226 chr13:67227632-67227632;G/C missense_variant False PCDH9@p.S657C 1 0.225806452 ENSG00000184226 chr13:67226471-67226471;G/C missense_variant False PCDH9@p.T886A 1 0.291666667 ENSG00000184226 chr13:67225785-67225785;T/C missense_variant False PCDHA10@p.A213T 1 0.12565445 ENSG00000250120 chr5:140856685-140856685;G/A missense_variant False PCDHA10@p.E415K 1 0.65942029 ENSG00000250120 chr5:140857291-140857291;G/A missense_variant False PCDHA10@p.R150G 1 0.338095238 ENSG00000250120 chr5:140856496-140856496;C/G missense_variant False PCDHA10@p.R88G 1 0.230046948 ENSG00000250120 chr5:140856310-140856310;C/G missense_variant False PCDHA10@p.R88W 1 0.137931034 ENSG00000250120 chr5:140856310-140856310;C/T missense_variant False PCDHA10@p.S508L 1 0.292929293 ENSG00000250120 chr5:140857571-140857571;C/T missense_variant False PCDHA11@p.G587C 1 0.197278912 ENSG00000249158 chr5:140870862-140870862;G/T missense_variant False PCDHA11@p.L354Cfs*17 1 0.323529412 ENSG00000249158 chr5:140870163-140870163;T/- frameshift_variant False PCDHA11@p.P656L 1 0.142857143 ENSG00000249158 chr5:140871070-140871070;C/T missense_variant False PCDHA11@p.R62H 1 0.204747774 ENSG00000249158 chr5:140869288-140869288;G/A missense_variant False PCDHA11@p.R643C 1 0.318181818 ENSG00000249158 chr5:140871030-140871030;C/T missense_variant False PCDH8@p.P358L 1 0.36 ENSG00000136099 chr13:52847364-52847364;G/A missense_variant False PCDH8@p.M55I 1 0.083769634 ENSG00000136099 chr13:52848272-52848272;C/T missense_variant False PCDH19@p.V281I 1 0.115384615 ENSG00000165194 chrX:100407757-100407757;C/T missense_variant False PCDH1@p.G255S 1 0.569230769 ENSG00000156453 chr5:141868709-141868709;C/T missense_variant False PCDH1@p.R328H 1 0.494845361 ENSG00000156453 chr5:141865348-141865348;C/T missense_variant False PCDH1@p.P84S 1 0.4 ENSG00000156453 chr5:141869222-141869222;G/A missense_variant False PCDH1@p.M1116V 1 0.206349206 ENSG00000156453 chr5:141854410-141854410;T/C missense_variant False PCDH1@p.K890E 1 0.5 ENSG00000156453 chr5:141863663-141863663;T/C missense_variant False PCDH1@p.I703M 1 0.457627119 ENSG00000156453 chr5:141864222-141864222;G/C missense_variant False PCDH1@p.G798D 1 0.073170732 ENSG00000156453 chr5:141863938-141863938;C/T missense_variant False PCDH1@p.G1162E 1 0.333333333 ENSG00000156453 chr5:141854271-141854271;C/T missense_variant False PCDH8@p.H943D 1 0.445945946 ENSG00000136099 chr13:52845437-52845437;G/C missense_variant False PCDH1@p.E324K 1 0.142857143 ENSG00000156453 chr5:141865361-141865361;C/T missense_variant False PCDH1@p.E1165Q 1 0.480519481 ENSG00000156453 chr5:141854263-141854263;C/G missense_variant False PCDH1@p.E1086K 1 0.342857143 ENSG00000156453 chr5:141857315-141857315;C/T missense_variant False PCDH1@p.D306N 1 0.178947368 ENSG00000156453 chr5:141865415-141865415;C/T missense_variant False PCDH1@p.D1177H 1 0.5 ENSG00000156453 chr5:141854227-141854227;C/G missense_variant False PCDH1@p.C432Y 1 0.295454545 ENSG00000156453 chr5:141865036-141865036;C/T missense_variant False PCDH1@p.S696L 1 0.078125 ENSG00000156453 chr5:141864244-141864244;G/A missense_variant False PCDH1@p.Y246Mfs*50 1 0.244897959 ENSG00000156453 chr5:141868737-141868737;G/- frameshift_variant False PCDH7@p.D104H 1 0.1875 ENSG00000169851 chr4:30721732-30721732;G/C missense_variant False PCDH7@p.D427E 1 0.545454545 ENSG00000169851 chr4:30722703-30722703;C/A missense_variant False PCDH7@p.E69D 1 0.15 ENSG00000169851 chr4:30721629-30721629;G/T missense_variant False PCDH7@p.E864K 1 0.385964912 ENSG00000169851 chr4:31142625-31142625;G/A missense_variant False PCDH7@p.E920K 1 0.413793103 ENSG00000169851 chr4:30724180-30724180;G/A missense_variant False PCDH7@p.P990S 1 0.290322581 ENSG00000169851 chr4:30724390-30724390;C/T missense_variant False PCDH7@p.Q826H 1 0.297297297 ENSG00000169851 chr4:30723900-30723900;G/T missense_variant False PCDH7@p.R288C 1 0.333333333 ENSG00000169851 chr4:30722284-30722284;C/T missense_variant False PCDH7@p.R805S 1 0.235294118 ENSG00000169851 chr4:30920323-30920323;G/C missense_variant False PCDH7@p.S838Y 1 0.231404959 ENSG00000169851 chr4:31142548-31142548;C/A missense_variant False PCDH7@p.V757L 1 0.32 ENSG00000169851 chr4:30920177-30920177;G/C missense_variant False PCDH8@p.E660K 1 0.290322581 ENSG00000136099 chr13:52846459-52846459;C/T missense_variant False PCDH8@p.E78K 1 0.588235294 ENSG00000136099 chr13:52848205-52848205;C/T missense_variant False PCDH8@p.G1057V 1 0.50617284 ENSG00000136099 chr13:52844603-52844603;C/A missense_variant False PCDH8@p.G798R 1 0.25 ENSG00000136099 chr13:52846045-52846045;C/T missense_variant False PCDH11Y@p.E885Q 1 0.887323944 ENSG00000099715 chrY:5100231-5100231;G/C missense_variant False PCDH11Y@p.D929Y 1 0.098522167 ENSG00000099715 chrY:5100363-5100363;G/T missense_variant False PCDH11Y@p.D792Y 1 0.642201835 ENSG00000099715 chrY:5099952-5099952;G/T missense_variant False PBRM1@p.E767Q 1 0.61038961 ENSG00000163939 chr3:52609581-52609581;C/G missense_variant True PBRM1@p.M1383I 1 0.112244898 ENSG00000163939 chr3:52561906-52561906;C/G missense_variant True PBRM1@p.L182F 1 0.074074074 ENSG00000163939 chr3:52658298-52658298;C/G missense_variant True PBRM1@p.K1373N 1 0.130081301 ENSG00000163939 chr3:52561936-52561936;C/G missense_variant True PBRM1@p.I1309T 1 0.209302326 ENSG00000163939 chr3:52563443-52563443;A/G missense_variant True PBRM1@p.E905Q 1 0.238095238 ENSG00000163939 chr3:52603587-52603587;C/G missense_variant True PBRM1@p.E846K 1 0.076923077 ENSG00000163939 chr3:52609344-52609344;C/T missense_variant True PBRM1@p.E583K 1 0.355263158 ENSG00000163939 chr3:52617333-52617333;C/T missense_variant True PBOV1@p.K91_S93del 1 0.666666667 ENSG00000254440 chr6:138218117-138218125;GGAACCTTT/- inframe_deletion False PBRM1@p.E406K 1 0.228915663 ENSG00000163939 chr3:52634687-52634687;C/T missense_variant True PBRM1@p.E372Q 1 0.084745763 ENSG00000163939 chr3:52634789-52634789;C/G missense_variant True PBRM1@p.E1132K 1 0.425 ENSG00000163939 chr3:52579193-52579193;C/T missense_variant True PBRM1@p.E1049K 1 0.181818182 ENSG00000163939 chr3:52586667-52586667;C/T missense_variant True PBRM1@p.D1325N 1 0.425925926 ENSG00000163939 chr3:52563396-52563396;C/T missense_variant True PBRM1@p.D1286N 1 0.421052632 ENSG00000163939 chr3:52564069-52564069;C/T missense_variant True PBRM1@p.N1262D 1 0.548387097 ENSG00000163939 chr3:52564141-52564141;T/C missense_variant True PBRM1@p.P1496L 1 0.15 ENSG00000163939 chr3:52554846-52554846;G/A missense_variant True PBRM1@p.Q779E 1 0.457831325 ENSG00000163939 chr3:52609545-52609545;G/C missense_variant True PBRM1@p.R1096C 1 0.455357143 ENSG00000163939 chr3:52586526-52586526;G/A missense_variant True PBRM1@p.R1603Pfs*12 1 0.168831169 ENSG00000163939 chr3:52550509-52550510;CC/- frameshift_variant True PBRM1@p.R876C 1 0.454545455 ENSG00000163939 chr3:52603674-52603674;G/A missense_variant True PBX1@p.E221K 1 0.066666667 ENSG00000185630 chr1:164799849-164799849;G/A missense_variant False PBX1@p.I204L 1 0.21875 ENSG00000185630 chr1:164799798-164799798;A/C missense_variant False PBX1@p.N354S 1 0.402597403 ENSG00000185630 chr1:164820135-164820135;A/G missense_variant False PBX1@p.V117M 1 0.133333333 ENSG00000185630 chr1:164792577-164792577;G/A missense_variant False PBX2@p.D52H 1 0.191489362 ENSG00000204304 chr6:32189762-32189762;C/G missense_variant False PBX2@p.E257K 1 0.266666667 ENSG00000204304 chr6:32187748-32187748;C/T missense_variant False PBX2@p.E373K 1 0.298245614 ENSG00000204304 chr6:32186687-32186687;C/T missense_variant False PBX2@p.E419G 1 0.259259259 ENSG00000204304 chr6:32186419-32186419;T/C missense_variant False PBX2@p.S340C 1 0.428571429 ENSG00000204304 chr6:32187247-32187247;G/C missense_variant False PBX2@p.S41T 1 0.272727273 ENSG00000204304 chr6:32189794-32189794;C/G missense_variant False PBX3@p.E35K 1 0.5 ENSG00000167081 chr9:125747556-125747556;G/A missense_variant False PBOV1@p.L117V 1 0.234042553 ENSG00000254440 chr6:138218047-138218047;G/C missense_variant False PBLD@p.S215L 1 0.25 ENSG00000108187 chr10:68288530-68288530;G/A missense_variant False PBX4@p.E143K 1 0.222222222 ENSG00000105717 chr19:19570600-19570600;C/T missense_variant False PAX8@p.N282I 1 0.555555556 ENSG00000125618 chr2:113236654-113236654;T/A missense_variant False PAXBP1@p.D747H 1 0.088607595 ENSG00000159086 chr21:32743706-32743706;C/G missense_variant False PAXBP1@p.D297H 1 0.243542435 ENSG00000159086 chr21:32761145-32761145;C/G missense_variant False PAXBP1@p.D263N 1 0.078740157 ENSG00000159086 chr21:32762180-32762180;C/T missense_variant False PAX9@p.S49L 1 0.846153846 ENSG00000198807 chr14:36663038-36663038;C/T missense_variant False PAX9@p.P312S 1 0.160839161 ENSG00000198807 chr14:36676360-36676360;C/T missense_variant False PAX9@p.D113N 1 0.137931034 ENSG00000198807 chr14:36663229-36663229;G/A missense_variant False PAX7@p.S405Y 1 0.397058824 ENSG00000009709 chr1:18735690-18735690;C/A missense_variant False PBLD@p.R216T 1 0.228571429 ENSG00000108187 chr10:68288527-68288527;C/G missense_variant False PAX7@p.S155L 1 0.102040816 ENSG00000009709 chr1:18636249-18636249;C/T missense_variant False PAX7@p.G103S 1 0.565217391 ENSG00000009709 chr1:18634524-18634524;G/A missense_variant False PAX7@p.E61D 1 0.333333333 ENSG00000009709 chr1:18634400-18634400;G/C missense_variant False PAX7@p.D414N 1 0.269230769 ENSG00000009709 chr1:18735716-18735716;G/A missense_variant False PAX5@p.L281V 1 0.076923077 ENSG00000196092 chr9:36923424-36923424;G/C missense_variant True PAX5@p.L270Q 1 0.561403509 ENSG00000196092 chr9:36923456-36923456;A/T missense_variant True PAXBP1@p.D896H 1 0.172413793 ENSG00000159086 chr21:32735018-32735018;C/G missense_variant False PAXBP1@p.E308D 1 0.285714286 ENSG00000159086 chr21:32761110-32761110;C/G missense_variant False PAXBP1@p.F443C 1 0.289256198 ENSG00000159086 chr21:32759135-32759135;A/C missense_variant False PAXBP1@p.G717E 1 0.277227723 ENSG00000159086 chr21:32744832-32744832;C/T missense_variant False PAXBP1@p.H897Y 1 0.085106383 ENSG00000159086 chr21:32735015-32735015;G/A missense_variant False PAXBP1@p.I598V 1 0.75 ENSG00000159086 chr21:32748630-32748630;T/C missense_variant False PAXBP1@p.K123N 1 0.375 ENSG00000159086 chr21:32769917-32769917;C/A missense_variant False PAXIP1@p.D1032N 1 0.127659574 ENSG00000157212 chr7:154946551-154946551;C/T missense_variant False PAXIP1@p.D251N 1 0.3 ENSG00000157212 chr7:154976019-154976019;C/T missense_variant False PAXIP1@p.E962K 1 0.412371134 ENSG00000157212 chr7:154947941-154947941;C/T missense_variant False PAXIP1@p.L972I 1 0.238970588 ENSG00000157212 chr7:154947911-154947911;G/T missense_variant False PAXIP1@p.Q1059E 1 0.12987013 ENSG00000157212 chr7:154946384-154946384;G/C missense_variant False PAXX@p.E70K 1 0.075 ENSG00000148362 chr9:136992952-136992952;G/A missense_variant False PBDC1@p.E131K 1 0.348837209 ENSG00000102390 chrX:76176974-76176974;G/A missense_variant False PBLD@p.E182D 1 0.396226415 ENSG00000108187 chr10:68288628-68288628;C/A missense_variant False PBLD@p.I5V 1 0.366666667 ENSG00000108187 chr10:68306832-68306832;T/C missense_variant False PBLD@p.L198V 1 0.487603306 ENSG00000108187 chr10:68288582-68288582;G/C missense_variant False PBX3@p.S243G 1 0.307692308 ENSG00000167081 chr9:125935491-125935491;A/G missense_variant False PBX4@p.S258C 1 0.359223301 ENSG00000105717 chr19:19565085-19565085;G/C missense_variant False PCDH11Y@p.D163Y 1 0.754385965 ENSG00000099715 chrY:5057310-5057310;G/T missense_variant False PCDH10@p.E319D 1 0.461538462 ENSG00000138650 chr4:133151097-133151097;A/C missense_variant False PCDH10@p.Q993H 1 0.181208054 ENSG00000138650 chr4:133163158-133163158;G/T missense_variant False PCDH10@p.Q228Afs*18 1 0.422222222 ENSG00000138650 chr4:133150819-133150820;-/A frameshift_variant False PCDH10@p.P322R 1 0.354330709 ENSG00000138650 chr4:133151105-133151105;C/G missense_variant False PCDH10@p.P253S 1 0.058823529 ENSG00000138650 chr4:133150897-133150897;C/T missense_variant False PCDH10@p.I79T 1 0.297029703 ENSG00000138650 chr4:133150376-133150376;T/C missense_variant False PCDH10@p.E82K 1 0.236363636 ENSG00000138650 chr4:133150384-133150384;G/A missense_variant False PCDH10@p.D386H 1 0.281553398 ENSG00000138650 chr4:133151296-133151296;G/C missense_variant False PCCA@p.E362Q 1 0.234042553 ENSG00000175198 chr13:100301478-100301478;G/C missense_variant False PCCB@p.S370L 1 0.213675214 ENSG00000114054 chr3:136326821-136326821;C/T missense_variant False PCCB@p.P287S 1 0.225806452 ENSG00000114054 chr3:136298047-136298047;C/T missense_variant False PCCB@p.L268F 1 0.216802168 ENSG00000114054 chr3:136297992-136297992;G/C missense_variant False PCCB@p.F384L 1 0.288043478 ENSG00000114054 chr3:136326864-136326864;C/G missense_variant False PCCA@p.S604C 1 0.5 ENSG00000175198 chr13:100425697-100425697;C/G missense_variant False PCCA@p.K328T 1 0.414634146 ENSG00000175198 chr13:100273264-100273264;A/C missense_variant False PCDH10@p.R157C 1 0.092592593 ENSG00000138650 chr4:133150609-133150609;C/T missense_variant False PCDH10@p.R191P 1 0.141025641 ENSG00000138650 chr4:133150712-133150712;G/C missense_variant False PCDH10@p.R423Q 1 0.15625 ENSG00000138650 chr4:133151408-133151408;G/A missense_variant False PCDH10@p.S121T 1 0.359649123 ENSG00000138650 chr4:133150501-133150501;T/A missense_variant False PCDH11X@p.A936S 1 0.786259542 ENSG00000102290 chrX:91879046-91879046;G/T missense_variant False PCDH11X@p.D350N 1 0.555555556 ENSG00000102290 chrX:91877288-91877288;G/A missense_variant False PCDH11X@p.D632G 1 0.327586207 ENSG00000102290 chrX:91878135-91878135;A/G missense_variant False PCDH11X@p.E280K 1 0.477272727 ENSG00000102290 chrX:91877078-91877078;G/A missense_variant False PCDH11X@p.G224R 1 0.24025974 ENSG00000102290 chrX:91876910-91876910;G/C missense_variant False PCDH11X@p.H1232Y 1 0.302158273 ENSG00000102290 chrX:92618590-92618590;C/T missense_variant False PCDH11X@p.H402R 1 0.847222222 ENSG00000102290 chrX:91877445-91877445;A/G missense_variant False PCDH11X@p.L4F 1 0.979166667 ENSG00000102290 chrX:91835516-91835516;G/T missense_variant False PCDH11X@p.P1212L 1 0.485294118 ENSG00000102290 chrX:92618531-92618531;C/T missense_variant False PCDH11X@p.Q636Tfs*11 1 0.306122449 ENSG00000102290 chrX:91878140-91878141;-/A frameshift_variant False PCDH11X@p.S428F 1 0.304878049 ENSG00000102290 chrX:91877523-91877523;C/T missense_variant False PCDH11X@p.S982F 1 0.351724138 ENSG00000102290 chrX:91879185-91879185;C/T missense_variant False PCDH11X@p.T1301R 1 0.143229167 ENSG00000102290 chrX:92618798-92618798;C/G missense_variant False PCCA@p.H515Q 1 0.6875 ENSG00000175198 chr13:100340161-100340161;C/G missense_variant False PCBP4@p.S314C 1 0.214285714 ENSG00000090097 chr3:51958332-51958332;G/C missense_variant False PBX4@p.S258F 1 0.481481481 ENSG00000105717 chr19:19565085-19565085;G/A missense_variant False PC@p.I740M 1 0.755102041 ENSG00000173599 chr11:66851043-66851043;G/C missense_variant False PCARE@p.F1123L 1 0.09375 ENSG00000179270 chr2:29070893-29070893;G/C missense_variant False PC@p.V699M 1 0.222222222 ENSG00000173599 chr11:66851168-66851168;C/T missense_variant False PC@p.T334M 1 0.317073171 ENSG00000173599 chr11:66868867-66868867;G/A missense_variant False PC@p.S1151L 1 0.25862069 ENSG00000173599 chr11:66848984-66848984;G/A missense_variant False PC@p.S1009L 1 0.185185185 ENSG00000173599 chr11:66849732-66849732;G/A missense_variant False PC@p.Q78H 1 0.5 ENSG00000173599 chr11:66871774-66871774;C/G missense_variant False PC@p.G361C 1 0.282051282 ENSG00000173599 chr11:66866291-66866291;C/A missense_variant False PCBP4@p.R128Q 1 0.213333333 ENSG00000090097 chr3:51960193-51960193;C/T missense_variant False PC@p.F1027V 1 0.195121951 ENSG00000173599 chr11:66849679-66849679;A/C missense_variant False PC@p.E701K 1 0.279069767 ENSG00000173599 chr11:66851162-66851162;C/T missense_variant False PC@p.E144K 1 0.255319149 ENSG00000173599 chr11:66871372-66871372;C/T missense_variant False PBXIP1@p.Q171E 1 0.315789474 ENSG00000163346 chr1:154948265-154948265;G/C missense_variant False PBXIP1@p.F643S 1 0.070422535 ENSG00000163346 chr1:154945746-154945746;A/G missense_variant False PBXIP1@p.A187V 1 0.263157895 ENSG00000163346 chr1:154948216-154948216;G/A missense_variant False PCARE@p.G709A 1 0.440366972 ENSG00000179270 chr2:29072136-29072136;C/G missense_variant False PCARE@p.L22F 1 0.124031008 ENSG00000179270 chr2:29074196-29074196;C/G missense_variant False PCARE@p.R723T 1 0.146666667 ENSG00000179270 chr2:29072094-29072094;C/G missense_variant False PCBD2@p.R79Q 1 0.268292683 ENSG00000132570 chr5:134959059-134959059;G/A missense_variant False PCBP1@p.A258S 1 0.342465753 ENSG00000169564 chr2:70088515-70088515;G/T missense_variant False PCBP1@p.D203N 1 0.092592593 ENSG00000169564 chr2:70088350-70088350;G/A missense_variant False PCBP1@p.E266K 1 0.169014085 ENSG00000169564 chr2:70088539-70088539;G/A missense_variant False PCBP1@p.E41K 1 0.284615385 ENSG00000169564 chr2:70087864-70087864;G/A missense_variant False PCBP1@p.G254R 1 0.351351351 ENSG00000169564 chr2:70088503-70088503;G/A missense_variant False PCBP1@p.I343M 1 0.485714286 ENSG00000169564 chr2:70088772-70088772;C/G missense_variant False PCBP1@p.L219V 1 0.421052632 ENSG00000169564 chr2:70088398-70088398;C/G missense_variant False PCBP1@p.S223L 1 0.425925926 ENSG00000169564 chr2:70088411-70088411;C/T missense_variant False PCBP1@p.S50L 1 0.421296296 ENSG00000169564 chr2:70087892-70087892;C/T missense_variant False PCBP1@p.V5M 1 0.127906977 ENSG00000169564 chr2:70087756-70087756;G/A missense_variant False PCBP3@p.G65E 1 0.133333333 ENSG00000183570 chr21:45900595-45900595;G/A missense_variant False PCBP3@p.R311C 1 0.208144796 ENSG00000183570 chr21:45940051-45940051;C/T missense_variant False PCBP4@p.E396K 1 0.295336788 ENSG00000090097 chr3:51958087-51958087;C/T missense_variant False PAM@p.G924D 1 0.383333333 ENSG00000145730 chr5:103028914-103028914;G/A missense_variant False PAM@p.D434N 1 0.40625 ENSG00000145730 chr5:102974253-102974253;G/A missense_variant False PALMD@p.S216P 1 0.18556701 ENSG00000099260 chr1:99688906-99688906;T/C missense_variant False OSMR@p.L3V 1 0.548148148 ENSG00000145623 chr5:38869051-38869051;C/G missense_variant False OSR1@p.D152N 1 0.13253012 ENSG00000143867 chr2:19353352-19353352;C/T missense_variant False OSMR@p.W296L 1 0.605839416 ENSG00000145623 chr5:38886086-38886086;G/T missense_variant False OSMR@p.V436I 1 0.107476636 ENSG00000145623 chr5:38917566-38917566;G/A missense_variant False OSMR@p.S877F 1 0.411111111 ENSG00000145623 chr5:38933134-38933134;C/T missense_variant False OSMR@p.R824G 1 0.085365854 ENSG00000145623 chr5:38932974-38932974;A/G missense_variant False OSMR@p.Q653E 1 0.195402299 ENSG00000145623 chr5:38924508-38924508;C/G missense_variant False OSMR@p.E75Q 1 0.392857143 ENSG00000145623 chr5:38876350-38876350;G/C missense_variant False OSR1@p.K232Q 1 0.170068027 ENSG00000143867 chr2:19352382-19352382;T/G missense_variant False OSMR@p.D408H 1 0.21686747 ENSG00000145623 chr5:38904440-38904440;G/C missense_variant False OSM@p.S182L 1 0.325581395 ENSG00000099985 chr22:30264097-30264097;G/A missense_variant False OSM@p.P178L 1 0.342105263 ENSG00000099985 chr22:30264109-30264109;G/A missense_variant False OSM@p.M245I 1 0.12605042 ENSG00000099985 chr22:30263907-30263907;C/T missense_variant False OSGIN2@p.V496A 1 0.217391304 ENSG00000164823 chr8:89925501-89925501;T/C missense_variant False OSGIN2@p.H329N 1 0.46875 ENSG00000164823 chr8:89924999-89924999;C/A missense_variant False OSR1@p.H94D 1 0.214285714 ENSG00000143867 chr2:19353526-19353526;G/C missense_variant False OSR1@p.K250N 1 0.41025641 ENSG00000143867 chr2:19352326-19352326;C/G missense_variant False PALMD@p.S189R 1 0.217687075 ENSG00000099260 chr1:99688827-99688827;T/A missense_variant False OSTM1@p.Q213E 1 0.189189189 ENSG00000081087 chr6:108051177-108051177;G/C missense_variant False OTOF@p.E1812V 1 0.376963351 ENSG00000115155 chr2:26461794-26461794;T/A missense_variant False OTOF@p.E1272K 1 0.2 ENSG00000115155 chr2:26472569-26472569;C/T missense_variant False OTOF@p.D1759N 1 0.420512821 ENSG00000115155 chr2:26462099-26462099;C/T missense_variant False OTOF@p.D1570N 1 0.296875 ENSG00000115155 chr2:26465763-26465763;C/T missense_variant False OTC@p.K210I 1 0.866666667 ENSG00000036473 chrX:38403706-38403706;A/T missense_variant False OSTN@p.E77Q 1 0.086419753 ENSG00000188729 chr3:191218873-191218873;G/C missense_variant False OSTF1@p.T22M 1 0.120967742 ENSG00000134996 chr9:75117534-75117534;C/T missense_variant False OSR1@p.S169F 1 0.207317073 ENSG00000143867 chr2:19353300-19353300;G/A missense_variant False OSTF1@p.D37G 1 0.413043478 ENSG00000134996 chr9:75127597-75127597;A/G missense_variant False OSTC@p.R136S 1 0.25 ENSG00000198856 chr4:108657624-108657624;A/T missense_variant False OSR2@p.M51I 1 0.315789474 ENSG00000164920 chr8:98949105-98949105;G/T missense_variant False OSR2@p.M133I 1 0.311258278 ENSG00000164920 chr8:98949351-98949351;G/C missense_variant False OSR2@p.G234E 1 0.258064516 ENSG00000164920 chr8:98950700-98950700;G/A missense_variant False OSR2@p.F85V 1 0.230769231 ENSG00000164920 chr8:98949205-98949205;T/G missense_variant False OSGEPL1@p.E215K 1 0.210526316 ENSG00000128694 chr2:189754312-189754312;C/T missense_variant False OSGEP@p.S205L 1 0.275362319 ENSG00000092094 chr14:20448755-20448755;G/A missense_variant False OSGEP@p.Q182H 1 0.306451613 ENSG00000092094 chr14:20448975-20448975;C/G missense_variant False OSBPL7@p.A469V 1 0.384615385 ENSG00000006025 chr17:47813780-47813780;G/A missense_variant False OSBPL8@p.D441H 1 0.121212121 ENSG00000091039 chr12:76389676-76389676;C/G missense_variant False OSBPL8@p.D343H 1 0.362903226 ENSG00000091039 chr12:76390560-76390560;C/G missense_variant False OSBPL7@p.S666F 1 0.588235294 ENSG00000006025 chr17:47809362-47809362;G/A missense_variant False OSBPL7@p.S495L 1 0.06779661 ENSG00000006025 chr17:47813702-47813702;G/A missense_variant False OSBPL7@p.S421L 1 0.172413793 ENSG00000006025 chr17:47814610-47814610;G/A missense_variant False OSBPL7@p.R83Q 1 0.049180328 ENSG00000006025 chr17:47819736-47819736;C/T missense_variant False OSBPL6@p.P560R 1 0.152941176 ENSG00000079156 chr2:178383081-178383081;C/G missense_variant False OSGEP@p.M298I 1 0.65 ENSG00000092094 chr14:20447496-20447496;C/G missense_variant False OSBPL6@p.M818L 1 0.584415584 ENSG00000079156 chr2:178392417-178392417;A/T missense_variant False OSBPL6@p.L441F 1 0.493670886 ENSG00000079156 chr2:178372161-178372161;G/C missense_variant False OSBPL6@p.D217N 1 0.152777778 ENSG00000079156 chr2:178333033-178333033;G/A missense_variant False OSBPL5@p.S398C 1 0.272727273 ENSG00000021762 chr11:3104244-3104244;G/C missense_variant False OSBPL5@p.E792K 1 0.309090909 ENSG00000021762 chr11:3090582-3090582;C/T missense_variant False OSBPL5@p.E783Q 1 0.119047619 ENSG00000021762 chr11:3090609-3090609;C/G missense_variant False OSBPL8@p.D735H 1 0.223404255 ENSG00000091039 chr12:76369674-76369674;C/G missense_variant False OSBPL8@p.L155F 1 0.28125 ENSG00000091039 chr12:76399876-76399876;T/G missense_variant False OSBPL8@p.Q868_K869del 1 0.222222222 ENSG00000091039 chr12:76355952-76355957;TTTTTG/- inframe_deletion False OSBPL8@p.R821I 1 0.294117647 ENSG00000091039 chr12:76356701-76356701;C/A missense_variant False OSBPL8@p.T111I 1 0.259259259 ENSG00000091039 chr12:76402723-76402723;G/A missense_variant False OSBPL9@p.I312L 1 0.46835443 ENSG00000117859 chr1:51765977-51765977;A/T missense_variant False OSBPL9@p.K372Qfs*12 1 0.134920635 ENSG00000117859 chr1:51772665-51772666;-/C frameshift_variant False OSBPL9@p.P243S 1 0.232394366 ENSG00000117859 chr1:51761920-51761920;C/T missense_variant False OSBPL9@p.Q432E 1 0.2 ENSG00000117859 chr1:51781201-51781201;C/G missense_variant False OSBPL9@p.S617C 1 0.16091954 ENSG00000117859 chr1:51785828-51785828;C/G missense_variant False OSCAR@p.R80P 1 0.722222222 ENSG00000170909 chr19:54097008-54097008;C/G missense_variant False OSCP1@p.E329Q 1 0.208480565 ENSG00000116885 chr1:36420480-36420480;C/G missense_variant False OSER1@p.A145T 1 0.201754386 ENSG00000132823 chr20:44197498-44197498;C/T missense_variant False OSER1@p.E235Q 1 0.133333333 ENSG00000132823 chr20:44197228-44197228;C/G missense_variant False OSER1@p.S124P 1 0.228571429 ENSG00000132823 chr20:44197561-44197561;A/G missense_variant False OSGEP@p.E192Q 1 0.290909091 ENSG00000092094 chr14:20448795-20448795;C/G missense_variant False OSGEP@p.G262V 1 0.630057803 ENSG00000092094 chr14:20447912-20447912;C/A missense_variant False OTOF@p.E245Q 1 0.375 ENSG00000115155 chr2:26501786-26501786;C/G missense_variant False OTOF@p.E480K 1 0.34939759 ENSG00000115155 chr2:26482547-26482547;C/T missense_variant False OTOF@p.F337L 1 0.136363636 ENSG00000115155 chr2:26489245-26489245;G/C missense_variant False OTUD6B@p.N93S 1 0.4 ENSG00000155100 chr8:91073874-91073874;A/G missense_variant False OTUD7B@p.D835N 1 0.298245614 ENSG00000264522 chr1:149943886-149943886;C/T missense_variant False OTUD7A@p.T275M 1 0.148148148 ENSG00000169918 chr15:31526418-31526418;G/A missense_variant False OTUD7A@p.R615Q 1 0.333333333 ENSG00000169918 chr15:31484252-31484252;C/T missense_variant False OTUD7A@p.Q383H 1 0.135135135 ENSG00000169918 chr15:31501712-31501712;C/G missense_variant False OTUD7A@p.F656S 1 0.379310345 ENSG00000169918 chr15:31484129-31484129;A/G missense_variant False OTUD7A@p.E173Q 1 0.485714286 ENSG00000169918 chr15:31559002-31559002;C/G missense_variant False OTUD6A@p.R171P 1 0.4 ENSG00000189401 chrX:70063036-70063036;G/C missense_variant False OTUD4@p.A949T 1 0.093023256 ENSG00000164164 chr4:145137930-145137930;C/T missense_variant False OTUD6A@p.L12V 1 0.166666667 ENSG00000189401 chrX:70062558-70062558;C/G missense_variant False OTUD5@p.T495I 1 0.578947368 ENSG00000068308 chrX:48923743-48923743;G/A missense_variant False OTUD5@p.M557I 1 0.538461538 ENSG00000068308 chrX:48923219-48923219;C/T missense_variant False OTUD4@p.S495L 1 0.306930693 ENSG00000164164 chr4:145144373-145144373;G/A missense_variant False OTUD4@p.Q779E 1 0.214285714 ENSG00000164164 chr4:145138440-145138440;G/C missense_variant False OTUD4@p.Q1086E 1 0.146341463 ENSG00000164164 chr4:145137519-145137519;G/C missense_variant False OTUD7B@p.Q645H 1 0.361445783 ENSG00000264522 chr1:149944454-149944454;C/G missense_variant False OTUD7B@p.R738Q 1 0.279069767 ENSG00000264522 chr1:149944176-149944176;C/T missense_variant False OTUD7B@p.S475R 1 0.44 ENSG00000264522 chr1:149944966-149944966;T/G missense_variant False OTULIN@p.P254S 1 0.547169811 ENSG00000154124 chr5:14690204-14690204;C/T missense_variant False OTULINL@p.M114I 1 0.441176471 ENSG00000145569 chr5:14601436-14601436;G/A missense_variant False OTULINL@p.S69L 1 0.088607595 ENSG00000145569 chr5:14601106-14601106;C/T missense_variant False OTX1@p.A165V 1 0.452380952 ENSG00000115507 chr2:63055745-63055745;C/T missense_variant False OTX1@p.A199V 1 0.407407407 ENSG00000115507 chr2:63055847-63055847;C/T missense_variant False OTX1@p.P222T 1 0.357142857 ENSG00000115507 chr2:63055915-63055915;C/A missense_variant False OTX1@p.S209F 1 0.150943396 ENSG00000115507 chr2:63055877-63055877;C/T missense_variant False OTX2@p.I157M 1 0.32 ENSG00000165588 chr14:56802134-56802134;G/C missense_variant False OTX2@p.P117S 1 0.463414634 ENSG00000165588 chr14:56802256-56802256;G/A missense_variant False OTX2@p.P176S 1 0.257142857 ENSG00000165588 chr14:56802079-56802079;G/A missense_variant False OTX2@p.R39C 1 0.111111111 ENSG00000165588 chr14:56804322-56804322;G/A missense_variant False OVCH1@p.A388D 1 0.56097561 ENSG00000187950 chr12:29477424-29477424;G/T missense_variant False OVCH1@p.G896E 1 0.195652174 ENSG00000187950 chr12:29451413-29451413;C/T missense_variant False OVCH1@p.L1051V 1 0.464566929 ENSG00000187950 chr12:29443367-29443367;A/C missense_variant False OTUD4@p.E454K 1 0.537878788 ENSG00000164164 chr4:145146329-145146329;C/T missense_variant False OTUB2@p.S223F 1 0.3 ENSG00000089723 chr14:94045885-94045885;C/T missense_variant False OTOF@p.F610V 1 0.4375 ENSG00000115155 chr2:26480287-26480287;A/C missense_variant False OTOGL@p.D832E 1 0.4 ENSG00000165899 chr12:80270132-80270132;T/A missense_variant False OTOGL@p.I1741T 1 0.411764706 ENSG00000165899 chr12:80342119-80342119;T/C missense_variant False OTOGL@p.G446S 1 0.12987013 ENSG00000165899 chr12:80253516-80253516;G/A missense_variant False OTOGL@p.G2295R 1 0.333333333 ENSG00000165899 chr12:80377869-80377869;G/C missense_variant False OTOGL@p.G143E 1 0.407407407 ENSG00000165899 chr12:80222184-80222184;G/A missense_variant False OTOGL@p.E2242K 1 0.14953271 ENSG00000165899 chr12:80370678-80370678;G/A missense_variant False OTOGL@p.E1840K 1 0.444444444 ENSG00000165899 chr12:80353435-80353435;G/A missense_variant False OTOGL@p.C462R 1 0.375 ENSG00000165899 chr12:80253564-80253564;T/C missense_variant False OTUB1@p.G264A 1 0.073170732 ENSG00000167770 chr11:63997521-63997521;G/C missense_variant False OTOF@p.S177F 1 0.14953271 ENSG00000115155 chr2:26503825-26503825;G/A missense_variant False OTOF@p.R813Q 1 0.131578947 ENSG00000115155 chr2:26477257-26477257;C/T missense_variant False OTOF@p.R264Q 1 0.092592593 ENSG00000115155 chr2:26495048-26495048;C/T missense_variant False OTOF@p.L549M 1 0.173913043 ENSG00000115155 chr2:26480944-26480944;G/T missense_variant False OTOF@p.K71E 1 0.103896104 ENSG00000115155 chr2:26527848-26527848;T/C missense_variant False OTOF@p.K1805N 1 0.422764228 ENSG00000115155 chr2:26461814-26461814;C/G missense_variant False OTOGL@p.Q1126E 1 0.253968254 ENSG00000165899 chr12:80310653-80310653;C/G missense_variant False OTOGL@p.R934Q 1 0.164233577 ENSG00000165899 chr12:80279039-80279039;G/A missense_variant False OTOGL@p.S1179R 1 0.785714286 ENSG00000165899 chr12:80313562-80313562;T/G missense_variant False OTOGL@p.T107A 1 0.230769231 ENSG00000165899 chr12:80219897-80219897;A/G missense_variant False OTOGL@p.T1650A 1 0.391304348 ENSG00000165899 chr12:80339162-80339162;A/G missense_variant False OTOL1@p.A17V 1 0.107142857 ENSG00000182447 chr3:161496857-161496857;C/T missense_variant False OTOP1@p.A386V 1 0.447058824 ENSG00000163982 chr4:4197677-4197677;G/A missense_variant False OTOP1@p.E514D 1 0.224489796 ENSG00000163982 chr4:4197292-4197292;C/G missense_variant False OTOP2@p.E130Q 1 0.14957265 ENSG00000183034 chr17:74925630-74925630;G/C missense_variant False OTOP2@p.E441K 1 0.780487805 ENSG00000183034 chr17:74930956-74930956;G/A missense_variant False OTOP2@p.R355Q 1 0.085470085 ENSG00000183034 chr17:74930699-74930699;G/A missense_variant False OTOP2@p.R548H 1 0.236641221 ENSG00000183034 chr17:74933499-74933499;G/A missense_variant False OTOP2@p.S32L 1 0.518518519 ENSG00000183034 chr17:74924727-74924727;C/T missense_variant False OTOP3@p.A312S 1 0.378531073 ENSG00000182938 chr17:74946843-74946843;G/T missense_variant False OTOP3@p.M305T 1 0.315457413 ENSG00000182938 chr17:74946823-74946823;T/C missense_variant False OTOP3@p.R31Q 1 0.2 ENSG00000182938 chr17:74941465-74941465;G/A missense_variant False OTP@p.R106S 1 0.485875706 ENSG00000171540 chr5:77636952-77636952;G/T missense_variant False OSBPL5@p.E640Q 1 0.220588235 ENSG00000021762 chr11:3093555-3093555;C/G missense_variant False OSBPL5@p.E356K 1 0.227272727 ENSG00000021762 chr11:3104371-3104371;C/T missense_variant False OSBPL3@p.W35C 1 0.263157895 ENSG00000070882 chr7:24872061-24872061;C/G missense_variant False OR8J3@p.I108F 1 0.257142857 ENSG00000167822 chr11:56137397-56137397;T/A missense_variant False OR8K1@p.I205L 1 0.513761468 ENSG00000150261 chr11:56346651-56346651;A/C missense_variant False OR8K1@p.A123V 1 0.124087591 ENSG00000150261 chr11:56346406-56346406;C/T missense_variant False OR8J3@p.S291R 1 0.16 ENSG00000167822 chr11:56136848-56136848;T/G missense_variant False OR8J3@p.S224C 1 0.176470588 ENSG00000167822 chr11:56137048-56137048;G/C missense_variant False OR8J3@p.L23P 1 0.037593985 ENSG00000167822 chr11:56137651-56137651;A/G missense_variant False OR8J3@p.L130V 1 0.176870748 ENSG00000167822 chr11:56137331-56137331;G/C missense_variant False OR8J3@p.G253W 1 0.188235294 ENSG00000167822 chr11:56136962-56136962;C/A missense_variant False OR8I2@p.L244F 1 0.188405797 ENSG00000172154 chr11:56094037-56094037;C/T missense_variant False OR8J1@p.I157V 1 0.1 ENSG00000172487 chr11:56360715-56360715;A/G missense_variant False OR8J1@p.D180H 1 0.405660377 ENSG00000172487 chr11:56360784-56360784;G/C missense_variant False OR8I2@p.S53C 1 0.085427136 ENSG00000172154 chr11:56093465-56093465;C/G missense_variant False OR8I2@p.S266P 1 0.121621622 ENSG00000172154 chr11:56094103-56094103;T/C missense_variant False OR8I2@p.L48V 1 0.446601942 ENSG00000172154 chr11:56093449-56093449;T/G missense_variant False OR8I2@p.L308H 1 0.458333333 ENSG00000172154 chr11:56094230-56094230;T/A missense_variant False OR8K1@p.M256I 1 0.782608696 ENSG00000150261 chr11:56346806-56346806;G/T missense_variant False OR8K1@p.R233S 1 0.475409836 ENSG00000150261 chr11:56346737-56346737;A/C missense_variant False OR8K1@p.R233T 1 0.205882353 ENSG00000150261 chr11:56346736-56346736;G/C missense_variant False OR8K3@p.E194V 1 0.288135593 ENSG00000280314 chr11:56318887-56318887;A/T missense_variant False OR8K3@p.F177L 1 0.486111111 ENSG00000280314 chr11:56318837-56318837;C/A missense_variant False OR8K3@p.G241R 1 0.323076923 ENSG00000280314 chr11:56319027-56319027;G/A missense_variant False OR8K3@p.M45I 1 0.25 ENSG00000280314 chr11:56318441-56318441;G/C missense_variant False OR8K3@p.N305K 1 0.238095238 ENSG00000280314 chr11:56319221-56319221;T/A missense_variant False OR8K3@p.S217C 1 0.203703704 ENSG00000280314 chr11:56318956-56318956;C/G missense_variant False OR8K3@p.S230Y 1 0.073170732 ENSG00000280314 chr11:56318995-56318995;C/A missense_variant False OR8K3@p.Y149C 1 0.17 ENSG00000280314 chr11:56318752-56318752;A/G missense_variant False OR8K5@p.E194A 1 0.094594595 ENSG00000181752 chr11:56159737-56159737;T/G missense_variant False OR8K5@p.L280S 1 0.125 ENSG00000181752 chr11:56159479-56159479;A/G missense_variant False OR8K5@p.L71V 1 0.084507042 ENSG00000181752 chr11:56160107-56160107;G/C missense_variant False OR8K5@p.R20L 1 0.44 ENSG00000181752 chr11:56160259-56160259;C/A missense_variant False OR8S1@p.I126M 1 0.134146341 ENSG00000284723 chr12:48526009-48526009;C/G missense_variant False OR8U1@p.E232K 1 0.220779221 ENSG00000172199 chr11:56376317-56376317;G/A missense_variant False OR8I2@p.L301V 1 0.219512195 ENSG00000172154 chr11:56094208-56094208;C/G missense_variant False OR8I2@p.C178Lfs*2 1 0.152777778 ENSG00000172154 chr11:56093831-56093832;-/T frameshift_variant False OR8U1@p.P183T 1 0.052980132 ENSG00000172199 chr11:56376170-56376170;C/A missense_variant False OR8D4@p.I173T 1 0.286792453 ENSG00000181518 chr11:123906949-123906949;T/C missense_variant False OR8G5@p.E196Q 1 0.131147541 ENSG00000255298 chr11:124265517-124265517;G/C missense_variant False OR8G2P@p.S289C 1 0.102040816 ENSG00000181214 chr11:124225597-124225597;C/G missense_variant False OR8G2P@p.S190F 1 0.158273381 ENSG00000181214 chr11:124225300-124225300;C/T missense_variant False OR8G1@p.S93Y 1 0.049180328 ENSG00000197849 chr11:124249953-124249953;C/A missense_variant False OR8G1@p.L48P 1 0.086419753 ENSG00000197849 chr11:124249818-124249818;T/C missense_variant False OR8D4@p.P313A 1 0.2 ENSG00000181518 chr11:123907368-123907368;C/G missense_variant False OR8D2@p.H172Y 1 0.071428571 ENSG00000279116 chr11:124319684-124319684;G/A missense_variant False OR8I2@p.A270V 1 0.196721311 ENSG00000172154 chr11:56094116-56094116;C/T missense_variant False OR8D1@p.L43M 1 0.148760331 ENSG00000196341 chr11:124310640-124310640;G/T missense_variant False OR8D1@p.G239E 1 0.223684211 ENSG00000196341 chr11:124310051-124310051;C/T missense_variant False OR8D1@p.F277L 1 0.418181818 ENSG00000196341 chr11:124309936-124309936;G/C missense_variant False OR8D1@p.E22K 1 0.306603774 ENSG00000196341 chr11:124310703-124310703;C/T missense_variant False OR8B8@p.G96R 1 0.282608696 ENSG00000197125 chr11:124440800-124440800;C/T missense_variant False OR8B4@p.S92F 1 0.301886792 ENSG00000280090 chr11:124424597-124424597;G/A missense_variant False OR8G5@p.E232K 1 0.141732283 ENSG00000255298 chr11:124265625-124265625;G/A missense_variant False OR8G5@p.S217C 1 0.135714286 ENSG00000255298 chr11:124265581-124265581;C/G missense_variant False OR8H1@p.A202D 1 0.20441989 ENSG00000181693 chr11:56290458-56290458;G/T missense_variant False OR8H1@p.F152L 1 0.533898305 ENSG00000181693 chr11:56290607-56290607;A/C missense_variant False OR8H1@p.L129V 1 0.163934426 ENSG00000181693 chr11:56290678-56290678;G/C missense_variant False OR8H1@p.R164T 1 0.300884956 ENSG00000181693 chr11:56290572-56290572;C/G missense_variant False OR8H1@p.R50H 1 0.413953488 ENSG00000181693 chr11:56290914-56290914;C/T missense_variant False OR8H2@p.F212S 1 0.179012346 ENSG00000181767 chr11:56105677-56105677;T/C missense_variant False OR8H2@p.L56R 1 0.076530612 ENSG00000181767 chr11:56105209-56105209;T/G missense_variant False OR8H2@p.L87M 1 0.050666667 ENSG00000181767 chr11:56105301-56105301;C/A missense_variant False OR8H2@p.P80H 1 0.336244541 ENSG00000181767 chr11:56105281-56105281;C/A missense_variant False OR8H2@p.T133K 1 0.647826087 ENSG00000181767 chr11:56105440-56105440;C/A missense_variant False OR8H2@p.V273A 1 0.152542373 ENSG00000181767 chr11:56105860-56105860;T/C missense_variant False OR8H3@p.D7N 1 0.201612903 ENSG00000181761 chr11:56122391-56122391;G/A missense_variant False OR8H3@p.S164R 1 0.073863636 ENSG00000181761 chr11:56122864-56122864;C/A missense_variant False OR8H3@p.S223F 1 0.444444444 ENSG00000181761 chr11:56123040-56123040;C/T missense_variant False OR8H3@p.V150L 1 0.173913043 ENSG00000181761 chr11:56122820-56122820;G/C missense_variant False OR8U1@p.G139E 1 0.385542169 ENSG00000172199 chr11:56376039-56376039;G/A missense_variant False OR9A2@p.F160C 1 0.412844037 ENSG00000179468 chr7:143026654-143026654;A/C missense_variant False OSBPL3@p.V747Afs*7 1 0.359649123 ENSG00000070882 chr7:24809877-24809884;CCGATGAA/- frameshift_variant False OSBP2@p.M754I 1 0.7 ENSG00000184792 chr22:30893888-30893888;G/T missense_variant False OSBPL10@p.P202S 1 0.189655172 ENSG00000144645 chr3:31830165-31830165;G/A missense_variant False OSBP@p.S345F 1 0.24137931 ENSG00000110048 chr11:59601373-59601373;G/A missense_variant False OSBP@p.S152Y 1 0.209876543 ENSG00000110048 chr11:59610497-59610497;G/T missense_variant False OSBP@p.E250K 1 0.454545455 ENSG00000110048 chr11:59608558-59608558;C/T missense_variant False OSBP@p.A528V 1 0.127272727 ENSG00000110048 chr11:59593699-59593699;G/A missense_variant False OSBP2@p.N545S 1 0.482758621 ENSG00000184792 chr22:30890738-30890738;A/G missense_variant False OSBP2@p.E882Q 1 0.285714286 ENSG00000184792 chr22:30906232-30906232;G/C missense_variant False ORM1@p.E150Q 1 0.219512195 ENSG00000229314 chr9:114325060-114325060;G/C missense_variant False OSBP2@p.E186K 1 0.048780488 ENSG00000184792 chr22:30695465-30695465;G/A missense_variant False OSBP2@p.D239H 1 0.355555556 ENSG00000184792 chr22:30741231-30741231;G/C missense_variant False OSBP2@p.A632V 1 0.142857143 ENSG00000184792 chr22:30893147-30893147;C/T missense_variant False OS9@p.R367Q 1 0.278350515 ENSG00000135506 chr12:57717924-57717924;G/A missense_variant False OS9@p.Q410H 1 0.125 ENSG00000135506 chr12:57718241-57718241;G/C missense_variant False ORMDL1@p.I150M 1 0.29787234 ENSG00000128699 chr2:189771779-189771779;A/C missense_variant False OSBPL10@p.R71Afs*39 1 0.466666667 ENSG00000144645 chr3:31980969-31980969;G/- frameshift_variant False OSBPL11@p.E687K 1 0.178947368 ENSG00000144909 chr3:125531980-125531980;C/T missense_variant False OSBPL11@p.S129C 1 0.196078431 ENSG00000144909 chr3:125579889-125579889;T/A missense_variant False OSBPL11@p.S13L 1 0.384615385 ENSG00000144909 chr3:125594763-125594763;G/A missense_variant False OSBPL1A@p.D948N 1 0.395833333 ENSG00000141447 chr18:24163190-24163190;C/T missense_variant False OSBPL1A@p.R150K 1 0.386138614 ENSG00000141447 chr18:24334276-24334276;C/T missense_variant False OSBPL1A@p.R61I 1 0.354166667 ENSG00000141447 chr18:24368312-24368312;C/A missense_variant False OSBPL2@p.S373C 1 0.179104478 ENSG00000130703 chr20:62286704-62286704;C/G missense_variant False OSBPL3@p.D4N 1 0.421052632 ENSG00000070882 chr7:24892463-24892463;C/T missense_variant False OSBPL3@p.I690T 1 0.136363636 ENSG00000070882 chr7:24815162-24815162;A/G missense_variant False OSBPL3@p.L141P 1 0.2 ENSG00000070882 chr7:24866197-24866197;A/G missense_variant False OSBPL3@p.N655H 1 0.465346535 ENSG00000070882 chr7:24816674-24816674;T/G missense_variant False OSBPL3@p.S16L 1 0.378378378 ENSG00000070882 chr7:24892426-24892426;G/A missense_variant False OSBPL3@p.S330F 1 0.376518219 ENSG00000070882 chr7:24861651-24861651;G/A missense_variant False OSBPL3@p.S437C 1 0.193333333 ENSG00000070882 chr7:24842370-24842370;G/C missense_variant False OSBPL3@p.S440G 1 0.81865285 ENSG00000070882 chr7:24842362-24842362;T/C missense_variant False OSBPL3@p.V209F 1 0.264516129 ENSG00000070882 chr7:24865390-24865390;C/A missense_variant False ORM2@p.E53K 1 0.148148148 ENSG00000228278 chr9:114330476-114330476;G/A missense_variant False ORC6@p.R99T 1 0.082474227 ENSG00000091651 chr16:46692482-46692482;G/C missense_variant False OR9A2@p.S66C 1 0.115942029 ENSG00000179468 chr7:143026936-143026936;G/C missense_variant False OR9I1@p.V198A 1 0.136363636 ENSG00000172377 chr11:58118852-58118852;A/G missense_variant False OR9Q1@p.Y120C 1 0.282608696 ENSG00000186509 chr11:58179803-58179803;A/G missense_variant False OR9Q1@p.I222M 1 0.231343284 ENSG00000186509 chr11:58180110-58180110;C/G missense_variant False OR9Q1@p.E279K 1 0.129770992 ENSG00000186509 chr11:58180279-58180279;G/A missense_variant False OR9Q1@p.A156T 1 0.405405405 ENSG00000186509 chr11:58179910-58179910;G/A missense_variant False OR9K2@p.I108L 1 0.488721805 ENSG00000170605 chr12:55130090-55130090;A/C missense_variant False OR9I1@p.V51L 1 0.114583333 ENSG00000172377 chr11:58119294-58119294;C/A missense_variant False OR9I1@p.P26L 1 0.277777778 ENSG00000172377 chr11:58119368-58119368;G/A missense_variant False ORC6@p.E109K 1 0.215686275 ENSG00000091651 chr16:46692511-46692511;G/A missense_variant False OR9I1@p.M136I 1 0.166666667 ENSG00000172377 chr11:58119037-58119037;C/T missense_variant False OR9G4@p.G147R 1 0.149758454 ENSG00000172457 chr11:56743328-56743328;C/G missense_variant False OR9G4@p.D89N 1 0.445945946 ENSG00000172457 chr11:56743502-56743502;C/T missense_variant False OR9G1@p.Y258H 1 0.110526316 ENSG00000174914 chr11:56701159-56701159;T/C missense_variant False OR9G1@p.R262I 1 0.062893082 ENSG00000174914 chr11:56701172-56701172;G/T missense_variant False OR9G1@p.L304I 1 0.303797468 ENSG00000174914 chr11:56701297-56701297;C/A missense_variant False OR9Q2@p.A311T 1 0.193548387 ENSG00000186513 chr11:58191421-58191421;G/A missense_variant False OR9Q2@p.L204V 1 0.565217391 ENSG00000186513 chr11:58191100-58191100;C/G missense_variant False OR9Q2@p.Q80E 1 0.096153846 ENSG00000186513 chr11:58190728-58190728;C/G missense_variant False OR9Q2@p.R122H 1 0.342281879 ENSG00000186513 chr11:58190855-58190855;G/A missense_variant False ORAI2@p.R91Q 1 0.221153846 ENSG00000160991 chr7:102446559-102446559;G/A missense_variant False ORAI3@p.E223Q 1 0.074380165 ENSG00000175938 chr16:30953623-30953623;G/C missense_variant False ORC1@p.E406K 1 0.13836478 ENSG00000085840 chr1:52388609-52388609;C/T missense_variant False ORC1@p.L636V 1 0.285714286 ENSG00000085840 chr1:52383527-52383527;G/C missense_variant False ORC1@p.W626R 1 0.333333333 ENSG00000085840 chr1:52383557-52383557;A/T missense_variant False ORC2@p.E357K 1 0.135135135 ENSG00000115942 chr2:200925914-200925914;C/T missense_variant False ORC3@p.E495Q 1 0.088235294 ENSG00000135336 chr6:87653216-87653216;G/C missense_variant False ORC3@p.H265D 1 0.159090909 ENSG00000135336 chr6:87612168-87612168;C/G missense_variant False ORC3@p.L388F 1 0.142857143 ENSG00000135336 chr6:87621992-87621992;G/C missense_variant False ORC3@p.R588C 1 0.464788732 ENSG00000135336 chr6:87663073-87663073;C/T missense_variant False ORC3@p.S180L 1 0.553191489 ENSG00000135336 chr6:87607784-87607784;C/T missense_variant False ORC5@p.C96S 1 0.548387097 ENSG00000164815 chr7:104200838-104200838;A/T missense_variant False ORC5@p.R104H 1 0.391304348 ENSG00000164815 chr7:104200813-104200813;C/T missense_variant False OVCH1@p.R799T 1 0.272727273 ENSG00000187950 chr12:29455290-29455290;C/G missense_variant False OVCH1@p.S883N 1 0.314814815 ENSG00000187950 chr12:29451452-29451452;C/T missense_variant False OVCH1@p.T860I 1 0.357142857 ENSG00000187950 chr12:29451521-29451521;G/A missense_variant False PAFAH2@p.E57Q 1 0.473684211 ENSG00000158006 chr1:25989523-25989523;C/G missense_variant False PAGE4@p.K70N 1 0.088888889 ENSG00000101951 chrX:49832568-49832568;G/C missense_variant False PAGE4@p.A92V 1 0.875 ENSG00000101951 chrX:49832633-49832633;C/T missense_variant False PAGE1@p.S40F 1 0.571428571 ENSG00000068985 chrX:49694146-49694146;G/A missense_variant False PAGE1@p.E102K 1 0.288135593 ENSG00000068985 chrX:49689532-49689532;C/T missense_variant False PAFAH2@p.R274Q 1 0.342105263 ENSG00000158006 chr1:25974588-25974588;C/T missense_variant False PAFAH2@p.L389V 1 0.237163814 ENSG00000158006 chr1:25962003-25962003;G/C missense_variant False PAFAH2@p.E123K 1 0.137931034 ENSG00000158006 chr1:25984503-25984503;C/T missense_variant False PAF1@p.G489A 1 0.1125 ENSG00000006712 chr19:39386121-39386121;C/G missense_variant False PAFAH1B3@p.L196V 1 0.118421053 ENSG00000079462 chr19:42297188-42297188;G/C missense_variant False PAFAH1B3@p.G76D 1 0.085106383 ENSG00000079462 chr19:42300229-42300229;C/T missense_variant False PAFAH1B3@p.E228G 1 0.072289157 ENSG00000079462 chr19:42297091-42297091;T/C missense_variant False PAFAH1B2@p.R23P 1 0.102941176 ENSG00000168092 chr11:117152515-117152515;G/C missense_variant False PAFAH1B1@p.S253C 1 0.291666667 ENSG00000007168 chr17:2674146-2674146;C/G missense_variant False PAFAH1B1@p.H206Y 1 0.258064516 ENSG00000007168 chr17:2672702-2672702;C/T missense_variant False PAGE5@p.E32K 1 0.446808511 ENSG00000158639 chrX:55221416-55221416;G/A missense_variant False PAGR1@p.E151K 1 0.416666667 ENSG00000280789 chr16:29816976-29816976;G/A missense_variant False PAGR1@p.S40C 1 0.272727273 ENSG00000280789 chr16:29816644-29816644;C/G missense_variant False PAH@p.D425N 1 0.204819277 ENSG00000171759 chr12:102840442-102840442;C/T missense_variant False PAH@p.I94T 1 0.518987342 ENSG00000171759 chr12:102894806-102894806;A/G missense_variant False PAH@p.M180L 1 0.142857143 ENSG00000171759 chr12:102855304-102855304;T/A missense_variant False PAH@p.R71H 1 0.184 ENSG00000171759 chr12:102894875-102894875;C/T missense_variant False PAH@p.S40L 1 0.246575342 ENSG00000171759 chr12:102912840-102912840;G/A missense_variant False PAH@p.Y216N 1 0.155172414 ENSG00000171759 chr12:102855196-102855196;A/T missense_variant False PAICS@p.E308K 1 0.2 ENSG00000128050 chr4:56452022-56452022;G/A missense_variant False PAICS@p.M165I 1 0.266666667 ENSG00000128050 chr4:56448519-56448519;G/C missense_variant False PAIP1@p.D416N 1 0.176136364 ENSG00000172239 chr5:43533744-43533744;C/T missense_variant False PAIP1@p.D431H 1 0.087301587 ENSG00000172239 chr5:43529841-43529841;C/G missense_variant False PAIP1@p.E177Q 1 0.431372549 ENSG00000172239 chr5:43547820-43547820;C/G missense_variant False PAIP1@p.E463Q 1 0.047337278 ENSG00000172239 chr5:43527429-43527429;C/G missense_variant False PAIP1@p.M113K 1 0.503401361 ENSG00000172239 chr5:43555927-43555927;A/T missense_variant False PAIP1@p.Q255E 1 0.147058824 ENSG00000172239 chr5:43539007-43539007;G/C missense_variant False PAF1@p.S343L 1 0.207430341 ENSG00000006712 chr19:39386758-39386758;G/A missense_variant False PAF1@p.E461_D462insK 1 0.431034483 ENSG00000006712 chr19:39386203-39386204;-/CTT inframe_insertion False PAIP1@p.V191D 1 0.472392638 ENSG00000172239 chr5:43547777-43547777;A/T missense_variant False PADI1@p.E49K 1 0.277108434 ENSG00000142623 chr1:17222342-17222342;G/A missense_variant False PADI2@p.E145K 1 0.346153846 ENSG00000117115 chr1:17093663-17093663;C/T missense_variant False PADI2@p.A246V 1 0.746153846 ENSG00000117115 chr1:17086618-17086618;G/A missense_variant False PADI1@p.R156W 1 0.103092784 ENSG00000142623 chr1:17225868-17225868;C/T missense_variant False PADI1@p.P655S 1 0.171875 ENSG00000142623 chr1:17244214-17244214;C/T missense_variant False PADI1@p.L199F 1 0.434782609 ENSG00000142623 chr1:17226101-17226101;C/T missense_variant False PADI1@p.E508K 1 0.294117647 ENSG00000142623 chr1:17238679-17238679;G/A missense_variant False PADI1@p.E246K 1 0.389189189 ENSG00000142623 chr1:17228708-17228708;G/A missense_variant False PAF1@p.E277K 1 0.223880597 ENSG00000006712 chr19:39388588-39388588;C/T missense_variant False PADI1@p.E144D 1 0.114130435 ENSG00000142623 chr1:17225834-17225834;G/C missense_variant False PACSIN3@p.S153F 1 0.293103448 ENSG00000165912 chr11:47180331-47180331;G/A missense_variant False PACSIN3@p.M221V 1 0.224489796 ENSG00000165912 chr11:47179529-47179529;T/C missense_variant False PACSIN3@p.L240V 1 0.166666667 ENSG00000165912 chr11:47179472-47179472;G/C missense_variant False PACSIN3@p.E322K 1 0.276315789 ENSG00000165912 chr11:47178967-47178967;C/T missense_variant False PACSIN3@p.E198D 1 0.353448276 ENSG00000165912 chr11:47180195-47180195;C/G missense_variant False PADI2@p.E329Q 1 0.076502732 ENSG00000117115 chr1:17083791-17083791;C/G missense_variant False PADI2@p.E384K 1 0.258823529 ENSG00000117115 chr1:17082553-17082553;C/T missense_variant False PADI2@p.E615K 1 0.087591241 ENSG00000117115 chr1:17069199-17069199;C/T missense_variant False PADI2@p.R78W 1 0.288888889 ENSG00000117115 chr1:17104922-17104922;G/A missense_variant False PADI3@p.E473K 1 0.316666667 ENSG00000142619 chr1:17276628-17276628;G/A missense_variant False PADI3@p.G127R 1 0.093567251 ENSG00000142619 chr1:17265691-17265691;G/A missense_variant False PADI4@p.C434Y 1 0.210526316 ENSG00000159339 chr1:17354678-17354678;G/A missense_variant False PADI4@p.D28H 1 0.205882353 ENSG00000159339 chr1:17308304-17308304;G/C missense_variant False PADI4@p.D465E 1 0.140350877 ENSG00000159339 chr1:17356067-17356067;C/G missense_variant False PADI4@p.E422K 1 0.525 ENSG00000159339 chr1:17354641-17354641;G/A missense_variant False PADI4@p.E474K 1 0.130434783 ENSG00000159339 chr1:17356092-17356092;G/A missense_variant False PADI4@p.E75Q 1 0.272727273 ENSG00000159339 chr1:17331099-17331099;G/C missense_variant False PADI4@p.G624D 1 0.125 ENSG00000159339 chr1:17363634-17363634;G/A missense_variant False PADI6@p.A83D 1 0.447368421 ENSG00000276747 chr1:17373187-17373187;C/A missense_variant False PADI6@p.E5D 1 0.13592233 ENSG00000276747 chr1:17372260-17372260;G/C missense_variant False PAF1@p.D522N 1 0.148148148 ENSG00000006712 chr19:39386023-39386023;C/T missense_variant False PAF1@p.E266K 1 0.173913043 ENSG00000006712 chr19:39388621-39388621;C/T missense_variant False PAIP1@p.S210C 1 0.55 ENSG00000172239 chr5:43543109-43543109;G/C missense_variant False PAIP2@p.L51F 1 0.153846154 ENSG00000120727 chr5:139364578-139364578;A/T missense_variant False PACSIN2@p.E367K 1 0.26984127 ENSG00000100266 chr22:42876940-42876940;C/T missense_variant False PALD1@p.R614C 1 0.141732283 ENSG00000107719 chr10:70539694-70539694;C/T missense_variant False PALLD@p.R272G 1 0.098360656 ENSG00000129116 chr4:168512318-168512318;C/G missense_variant False PALLD@p.E776K 1 0.169014085 ENSG00000129116 chr4:168898568-168898568;G/A missense_variant False PALLD@p.D916H 1 0.243902439 ENSG00000129116 chr4:168915923-168915923;G/C missense_variant False PALLD@p.D515N 1 0.31372549 ENSG00000129116 chr4:168709069-168709069;G/A missense_variant False PALD1@p.V324F 1 0.571428571 ENSG00000107719 chr10:70534021-70534021;G/T missense_variant False PALD1@p.T250A 1 0.245454545 ENSG00000107719 chr10:70532735-70532735;A/G missense_variant False PALD1@p.I241M 1 0.125925926 ENSG00000107719 chr10:70532710-70532710;C/G missense_variant False PALB2@p.E837K 1 0.170731707 ENSG00000083093 chr16:23629645-23629645;C/T missense_variant False PALD1@p.F310L 1 0.189189189 ENSG00000107719 chr10:70533981-70533981;C/A missense_variant False PALB2@p.V836I 1 0.142857143 ENSG00000083093 chr16:23629648-23629648;C/T missense_variant False PALB2@p.S779L 1 0.173913043 ENSG00000083093 chr16:23629818-23629818;G/A missense_variant False PALB2@p.S747C 1 0.179104478 ENSG00000083093 chr16:23629914-23629914;G/C missense_variant False PALB2@p.S582Y 1 0.181818182 ENSG00000083093 chr16:23630409-23630409;G/T missense_variant False PALB2@p.K231N 1 0.286407767 ENSG00000083093 chr16:23635853-23635853;T/A missense_variant False PALLD@p.R301Q 1 0.382352941 ENSG00000129116 chr4:168512406-168512406;G/A missense_variant False PALM2AKAP2@p.A300T 1 0.136363636 ENSG00000157654 chr9:110137135-110137135;G/A missense_variant False PALM2AKAP2@p.E185K 1 0.375 ENSG00000157654 chr9:110016010-110016010;G/A missense_variant False PALM2AKAP2@p.E4D 1 0.040816327 ENSG00000157654 chr9:110136249-110136249;G/T missense_variant False PALM2AKAP2@p.M379T 1 0.182692308 ENSG00000157654 chr9:109943421-109943421;T/C missense_variant False PALM2AKAP2@p.Q87K 1 0.577777778 ENSG00000157654 chr9:109880677-109880677;C/A missense_variant False PALM2AKAP2@p.R738K 1 0.194029851 ENSG00000157654 chr9:110138450-110138450;G/A missense_variant False PALM2AKAP2@p.S254C 1 0.476190476 ENSG00000157654 chr9:109943046-109943046;C/G missense_variant False PALM@p.A278T 1 0.341463415 ENSG00000099864 chr19:746482-746482;G/A missense_variant False PALM@p.D310N 1 0.196428571 ENSG00000099864 chr19:746578-746578;G/A missense_variant False PALMD@p.D449N 1 0.173076923 ENSG00000099260 chr1:99689605-99689605;G/A missense_variant False PALMD@p.E259Q 1 0.322368421 ENSG00000099260 chr1:99689035-99689035;G/C missense_variant False PALMD@p.E86Q 1 0.185714286 ENSG00000099260 chr1:99686680-99686680;G/C missense_variant False PALMD@p.I31T 1 0.327433628 ENSG00000099260 chr1:99662365-99662365;T/C missense_variant False PALMD@p.L433V 1 0.43902439 ENSG00000099260 chr1:99689557-99689557;C/G missense_variant False PALMD@p.L52V 1 0.350649351 ENSG00000099260 chr1:99667669-99667669;C/G missense_variant False PALMD@p.P324L 1 0.46 ENSG00000099260 chr1:99689231-99689231;C/T missense_variant False PALB2@p.I609M 1 0.84057971 ENSG00000083093 chr16:23630327-23630327;G/C missense_variant False PALB2@p.E53Q 1 0.153846154 ENSG00000083093 chr16:23637904-23637904;C/G missense_variant False PAIP2B@p.E26K 1 0.144230769 ENSG00000124374 chr2:71202514-71202514;C/T missense_variant False PAK2@p.L429V 1 0.103448276 ENSG00000180370 chr3:196820502-196820502;C/G missense_variant False PAK3@p.D142E 1 0.357142857 ENSG00000077264 chrX:111147841-111147841;T/A missense_variant False PAK2@p.R104Q 1 0.315789474 ENSG00000180370 chr3:196803039-196803039;G/A missense_variant False PAK2@p.Q137P 1 0.666666667 ENSG00000180370 chr3:196803138-196803138;A/C missense_variant False PAK2@p.P205S 1 0.480519481 ENSG00000180370 chr3:196807818-196807818;C/T missense_variant False PAK2@p.P165A 1 0.302325581 ENSG00000180370 chr3:196806603-196806603;C/G missense_variant False PAK2@p.P12A 1 0.068627451 ENSG00000180370 chr3:196782680-196782680;C/G missense_variant False PAK2@p.D317H 1 0.166666667 ENSG00000180370 chr3:196814464-196814464;G/C missense_variant False PALB2@p.E456Q 1 0.276422764 ENSG00000083093 chr16:23635180-23635180;C/G missense_variant False PAK1IP1@p.E101K 1 0.426966292 ENSG00000111845 chr6:10702422-10702422;G/A missense_variant False PAK1IP1@p.D279N 1 0.288135593 ENSG00000111845 chr6:10707509-10707509;G/A missense_variant False PAK1@p.R105Afs*39 1 0.321428571 ENSG00000149269 chr11:77379367-77379367;G/- frameshift_variant False PAK1@p.E417Q 1 0.483870968 ENSG00000149269 chr11:77336250-77336250;C/G missense_variant False PAK1@p.E315K 1 0.186206897 ENSG00000149269 chr11:77343874-77343874;C/T missense_variant False PAIP2B@p.E53K 1 0.333333333 ENSG00000124374 chr2:71190003-71190003;C/T missense_variant False PAK3@p.E447K 1 0.471544715 ENSG00000077264 chrX:111196527-111196527;G/A missense_variant False PAK3@p.K128N 1 0.534883721 ENSG00000077264 chrX:111147799-111147799;G/C missense_variant False PAK3@p.L546V 1 0.891304348 ENSG00000077264 chrX:111220403-111220403;C/G missense_variant False PAK3@p.M261I 1 0.234782609 ENSG00000077264 chrX:111163699-111163699;G/A missense_variant False PAK3@p.R49C 1 0.306451613 ENSG00000077264 chrX:111123248-111123248;C/T missense_variant False PAK3@p.S177C 1 0.247058824 ENSG00000077264 chrX:111162931-111162931;C/G missense_variant False PAK4@p.N16H 1 0.376623377 ENSG00000130669 chr19:39169599-39169599;A/C missense_variant False PAK5@p.E542K 1 0.404494382 ENSG00000101349 chr20:9557727-9557727;C/T missense_variant False PAK5@p.M480T 1 0.356725146 ENSG00000101349 chr20:9565936-9565936;A/G missense_variant False PAK5@p.R96L 1 0.28 ENSG00000101349 chr20:9580848-9580848;C/A missense_variant False PAK5@p.S183C 1 0.404624277 ENSG00000101349 chr20:9580587-9580587;G/C missense_variant False PAK6@p.P606_A609del 1 0.507142857 ENSG00000137843 chr15:40274212-40274223;CCCCAGTGCAAG/- inframe_deletion False PAK6@p.V555I 1 0.513513514 ENSG00000137843 chr15:40273596-40273596;G/A missense_variant False PALB2@p.D714N 1 0.168 ENSG00000083093 chr16:23630014-23630014;C/T missense_variant False PALB2@p.D772N 1 0.31372549 ENSG00000083093 chr16:23629840-23629840;C/T missense_variant False PALB2@p.E1018K 1 0.220930233 ENSG00000083093 chr16:23621423-23621423;C/T missense_variant False PALB2@p.E367D 1 0.09787234 ENSG00000083093 chr16:23635445-23635445;T/G missense_variant False PACSIN2@p.G472R 1 0.25 ENSG00000100266 chr22:42871404-42871404;C/T missense_variant False PACSIN1@p.W20C 1 0.228571429 ENSG00000124507 chr6:34526365-34526365;G/C missense_variant False OVCH1@p.V946E 1 0.25 ENSG00000187950 chr12:29445322-29445322;A/T missense_variant False P2RX7@p.E255K 1 0.111111111 ENSG00000089041 chr12:121167506-121167506;G/A missense_variant False P2RY13@p.F217L 1 0.087209302 ENSG00000181631 chr3:151328405-151328405;G/C missense_variant False P2RY12@p.V38Cfs*19 1 0.136986301 ENSG00000169313 chr3:151338734-151338735;-/A frameshift_variant False P2RY12@p.L30V 1 0.160714286 ENSG00000169313 chr3:151338758-151338758;G/C missense_variant False P2RY10@p.L195F 1 0.24137931 ENSG00000078589 chrX:78961105-78961105;G/T missense_variant False P2RY10@p.A79S 1 0.071794872 ENSG00000078589 chrX:78960755-78960755;G/T missense_variant False P2RX7@p.P474L 1 0.466666667 ENSG00000089041 chr12:121184435-121184435;C/T missense_variant False P2RX6@p.Y285C 1 0.264705882 ENSG00000099957 chr22:21023582-21023582;A/G missense_variant False P2RX2@p.D217N 1 0.48245614 ENSG00000187848 chr12:132620458-132620458;G/A missense_variant False P2RX3@p.T365A 1 0.319148936 ENSG00000109991 chr11:57369896-57369896;A/G missense_variant False P2RX3@p.G68E 1 0.169811321 ENSG00000109991 chr11:57346627-57346627;G/A missense_variant False P2RX3@p.E270K 1 0.230769231 ENSG00000109991 chr11:57350864-57350864;G/A missense_variant False P2RX2@p.R130S 1 0.263157895 ENSG00000187848 chr12:132619852-132619852;G/C missense_variant False P2RX2@p.P101T 1 0.304635762 ENSG00000187848 chr12:132619566-132619566;C/A missense_variant False P2RX2@p.K200N 1 0.465116279 ENSG00000187848 chr12:132620312-132620312;G/T missense_variant False P2RY13@p.K286N 1 0.116883117 ENSG00000181631 chr3:151328198-151328198;C/G missense_variant False P2RY13@p.S102C 1 0.372881356 ENSG00000181631 chr3:151328751-151328751;G/C missense_variant False P2RY14@p.L282P 1 0.489361702 ENSG00000174944 chr3:151213472-151213472;A/G missense_variant False P2RY1@p.K114T 1 0.4375 ENSG00000169860 chr3:152836123-152836123;A/C missense_variant False P2RY1@p.V179A 1 0.4 ENSG00000169860 chr3:152836318-152836318;T/C missense_variant False P2RY2@p.S233L 1 0.511811024 ENSG00000175591 chr11:73234857-73234857;C/T missense_variant False P2RY6@p.R124C 1 0.424242424 ENSG00000171631 chr11:73296888-73296888;C/T missense_variant False P2RY6@p.R239H 1 0.172413793 ENSG00000171631 chr11:73297234-73297234;G/A missense_variant False P2RY8@p.S327C 1 0.126984127 ENSG00000292333 chrX:1465579-1465579;G/C missense_variant False P3H1@p.E293Q 1 0.440677966 ENSG00000117385 chr1:42758915-42758915;C/G missense_variant False P3H1@p.F154L 1 0.25 ENSG00000117385 chr1:42766510-42766510;G/T missense_variant False P3H2@p.D204H 1 0.23655914 ENSG00000090530 chr3:189995313-189995313;C/G missense_variant False P3H2@p.E234K 1 0.58974359 ENSG00000090530 chr3:189994217-189994217;C/T missense_variant False P3H2@p.E520K 1 0.510416667 ENSG00000090530 chr3:189973015-189973015;C/T missense_variant False P3H2@p.G296R 1 0.48 ENSG00000090530 chr3:189988976-189988976;C/G missense_variant False P3H2@p.L608V 1 0.166666667 ENSG00000090530 chr3:189970887-189970887;G/C missense_variant False P3H2@p.R365T 1 0.568627451 ENSG00000090530 chr3:189987531-189987531;C/G missense_variant False P2RX2@p.I199M 1 0.13559322 ENSG00000187848 chr12:132620309-132620309;C/G missense_variant False P2RX1@p.A371T 1 0.947368421 ENSG00000108405 chr17:3898032-3898032;C/T missense_variant False P3H3@p.R229H 1 0.333333333 ENSG00000110811 chr12:6830387-6830387;G/A missense_variant False OXER1@p.P352H 1 0.444444444 ENSG00000162881 chr2:42763125-42763125;G/T missense_variant False OXNAD1@p.D49N 1 0.19858156 ENSG00000154814 chr3:16271684-16271684;G/A missense_variant False OXLD1@p.E63K 1 0.134831461 ENSG00000204237 chr17:81665458-81665458;C/T missense_variant False OXLD1@p.D128H 1 0.072463768 ENSG00000204237 chr17:81665263-81665263;C/G missense_variant False OXGR1@p.V252I 1 0.333333333 ENSG00000165621 chr13:96987006-96987006;C/T missense_variant False OXGR1@p.I109M 1 0.1 ENSG00000165621 chr13:96987433-96987433;G/C missense_variant False OXER1@p.S60C 1 0.258064516 ENSG00000162881 chr2:42764001-42764001;G/C missense_variant False OXER1@p.P290S 1 0.243243243 ENSG00000162881 chr2:42763312-42763312;G/A missense_variant False OXTR@p.A167T 1 0.611111111 ENSG00000180914 chr3:8767689-8767689;C/T missense_variant False OXCT2@p.V269M 1 0.172932331 ENSG00000198754 chr1:39770451-39770451;C/T missense_variant False OXCT2@p.E296K 1 0.373134328 ENSG00000198754 chr1:39770370-39770370;C/T missense_variant False OXCT1@p.P70T 1 0.371134021 ENSG00000083720 chr5:41861384-41861384;G/T missense_variant False OVGP1@p.P489L 1 0.455696203 ENSG00000085465 chr1:111415035-111415035;G/A missense_variant False OVGP1@p.G431W 1 0.161616162 ENSG00000085465 chr1:111415210-111415210;C/A missense_variant False OVGP1@p.E118Q 1 0.217821782 ENSG00000085465 chr1:111423674-111423674;C/G missense_variant False OXNAD1@p.D87N 1 0.209677419 ENSG00000154814 chr3:16286417-16286417;G/A missense_variant False OXNAD1@p.E309Q 1 0.1 ENSG00000154814 chr3:16303548-16303548;G/C missense_variant False OXNAD1@p.M7I 1 0.243137255 ENSG00000154814 chr3:16270973-16270973;G/A missense_variant False OXNAD1@p.R202T 1 0.135135135 ENSG00000154814 chr3:16301798-16301798;G/C missense_variant False OXR1@p.E332K 1 0.324074074 ENSG00000164830 chr8:106706512-106706512;G/A missense_variant False OXR1@p.E400Q 1 0.125 ENSG00000164830 chr8:106706716-106706716;G/C missense_variant False OXR1@p.E456Q 1 0.674074074 ENSG00000164830 chr8:106706884-106706884;G/C missense_variant False OXR1@p.G295V 1 0.1125 ENSG00000164830 chr8:106706402-106706402;G/T missense_variant False OXR1@p.I316M 1 0.096385542 ENSG00000164830 chr8:106706466-106706466;C/G missense_variant False OXR1@p.S643F 1 0.14516129 ENSG00000164830 chr8:106713954-106713954;C/T missense_variant False OXSM@p.D227N 1 0.303571429 ENSG00000151093 chr3:25791699-25791699;G/A missense_variant False OXSM@p.E340Q 1 0.176470588 ENSG00000151093 chr3:25794132-25794132;G/C missense_variant False OXSM@p.E394K 1 0.150943396 ENSG00000151093 chr3:25794294-25794294;G/A missense_variant False OXSM@p.L245V 1 0.382550336 ENSG00000151093 chr3:25791753-25791753;C/G missense_variant False OXSM@p.R15S 1 0.26744186 ENSG00000151093 chr3:25791063-25791063;C/A missense_variant False OXSR1@p.D340N 1 0.240566038 ENSG00000172939 chr3:38236905-38236905;G/A missense_variant False OXSR1@p.N49H 1 0.552631579 ENSG00000172939 chr3:38183077-38183077;A/C missense_variant False P3H2@p.Y553C 1 0.603174603 ENSG00000090530 chr3:189972915-189972915;T/C missense_variant False P4HA1@p.D30G 1 0.486725664 ENSG00000122884 chr10:73073815-73073815;T/C missense_variant False PACSIN1@p.K114N 1 0.034934498 ENSG00000124507 chr6:34528763-34528763;G/C missense_variant False PABPC4@p.R509C 1 0.316666667 ENSG00000090621 chr1:39563709-39563709;G/A missense_variant False PABPN1@p.S197L 1 0.108910891 ENSG00000100836 chr14:23323432-23323432;C/T missense_variant False PABPN1@p.E164K 1 0.296803653 ENSG00000100836 chr14:23323022-23323022;G/A missense_variant False PABPN1@p.E138Afs*26 1 0.583333333 ENSG00000100836 chr14:23322240-23322241;GG/- frameshift_variant False PABPC5@p.Q339P 1 0.245283019 ENSG00000174740 chrX:91436593-91436593;A/C missense_variant False PABPC5@p.G236V 1 0.357894737 ENSG00000174740 chrX:91436284-91436284;G/T missense_variant False PABPC5@p.G236R 1 0.372340426 ENSG00000174740 chrX:91436283-91436283;G/A missense_variant False PABPC4@p.P534L 1 0.065217391 ENSG00000090621 chr1:39563633-39563633;G/A missense_variant False PABPC3@p.T473M 1 0.144736842 ENSG00000151846 chr13:25097616-25097616;C/T missense_variant False PABPC4@p.P500H 1 0.172413793 ENSG00000090621 chr1:39563735-39563735;G/T missense_variant False PABPC4@p.E286D 1 0.159259259 ENSG00000090621 chr1:39568820-39568820;C/G missense_variant False PABPC4@p.E255Q 1 0.151515152 ENSG00000090621 chr1:39568915-39568915;C/G missense_variant False PABPC4@p.D70N 1 0.222222222 ENSG00000090621 chr1:39572572-39572572;C/T missense_variant False PABPC4@p.D64N 1 0.210526316 ENSG00000090621 chr1:39575762-39575762;C/T missense_variant False PABPC4@p.A63G 1 0.525 ENSG00000090621 chr1:39575764-39575764;G/C missense_variant False PABPN1L@p.D145N 1 0.192307692 ENSG00000205022 chr16:88865589-88865589;C/T missense_variant False PACC1@p.L138M 1 0.222222222 ENSG00000065600 chr1:212385357-212385357;G/T missense_variant False PACC1@p.M331V 1 0.79047619 ENSG00000065600 chr1:212365277-212365277;T/C missense_variant False PACC1@p.P137S 1 0.4 ENSG00000065600 chr1:212385360-212385360;G/A missense_variant False PACC1@p.Q122E 1 0.279069767 ENSG00000065600 chr1:212385405-212385405;G/C missense_variant False PACC1@p.R188H 1 0.184 ENSG00000065600 chr1:212379970-212379970;C/T missense_variant False PACS1@p.E247Q 1 0.262626263 ENSG00000175115 chr11:66216197-66216197;G/C missense_variant False PACS1@p.F748L 1 0.095505618 ENSG00000175115 chr11:66235934-66235934;C/A missense_variant False PACS1@p.L473V 1 0.157142857 ENSG00000175115 chr11:66230590-66230590;C/G missense_variant False PACS1@p.R155C 1 0.2 ENSG00000175115 chr11:66210380-66210380;C/T missense_variant False PACS1@p.T394M 1 0.4 ENSG00000175115 chr11:66220773-66220773;C/T missense_variant False PACS2@p.E209K 1 0.125 ENSG00000179364 chr14:105368112-105368112;G/A missense_variant False PACS2@p.E283K 1 0.297297297 ENSG00000179364 chr14:105376813-105376813;G/A missense_variant False PACS2@p.L838V 1 0.4 ENSG00000179364 chr14:105393296-105393296;C/G missense_variant False PACS2@p.S71F 1 0.25 ENSG00000179364 chr14:105352382-105352382;C/T missense_variant False PACSIN1@p.D215H 1 0.12 ENSG00000124507 chr6:34529696-34529696;G/C missense_variant False PACSIN1@p.D383N 1 0.156118143 ENSG00000124507 chr6:34531709-34531709;G/A missense_variant False PABPC4@p.A486V 1 0.22 ENSG00000090621 chr1:39563871-39563871;G/A missense_variant False PABPC3@p.P550H 1 0.3671875 ENSG00000151846 chr13:25097847-25097847;C/A missense_variant False P4HA1@p.Q27H 1 0.171428571 ENSG00000122884 chr10:73073823-73073823;C/G missense_variant False P4HB@p.S168F 1 0.23125 ENSG00000185624 chr17:81855263-81855263;G/A missense_variant False PA2G4@p.P337R 1 0.53164557 ENSG00000170515 chr12:56111254-56111254;C/G missense_variant False PA2G4@p.N83S 1 0.288461538 ENSG00000170515 chr12:56107020-56107020;A/G missense_variant False PA2G4@p.H147Y 1 0.25 ENSG00000170515 chr12:56107566-56107566;C/T missense_variant False P4HTM@p.R383K 1 0.125 ENSG00000178467 chr3:49005851-49005851;G/A missense_variant False P4HTM@p.R215L 1 0.066037736 ENSG00000178467 chr3:49002516-49002516;G/T missense_variant False P4HTM@p.M222I 1 0.222222222 ENSG00000178467 chr3:49002538-49002538;G/A missense_variant False P4HB@p.E507G 1 0.587743733 ENSG00000185624 chr17:81844019-81844019;T/C missense_variant False PABPC3@p.L18F 1 0.124137931 ENSG00000151846 chr13:25096250-25096250;C/T missense_variant False P4HB@p.E431Q 1 0.133333333 ENSG00000185624 chr17:81845629-81845629;C/G missense_variant False P4HB@p.E217K 1 0.754716981 ENSG00000185624 chr17:81847323-81847323;C/T missense_variant False P4HB@p.D142N 1 0.215686275 ENSG00000185624 chr17:81855515-81855515;C/T missense_variant False P4HA3@p.L230F 1 0.352112676 ENSG00000149380 chr11:74298239-74298239;C/G missense_variant False P4HA3@p.E368K 1 0.095238095 ENSG00000149380 chr11:74285817-74285817;C/T missense_variant False P4HA1@p.V215Yfs*20 1 0.153846154 ENSG00000122884 chr10:73053411-73053411;C/- frameshift_variant False PA2G4@p.Q367H 1 0.205128205 ENSG00000170515 chr12:56111511-56111511;G/C missense_variant False PAAF1@p.G177R 1 0.207920792 ENSG00000175575 chr11:73900417-73900417;G/C missense_variant False PAAF1@p.G42E 1 0.176470588 ENSG00000175575 chr11:73887390-73887390;G/A missense_variant False PAAF1@p.L256F 1 0.397590361 ENSG00000175575 chr11:73914453-73914453;G/C missense_variant False PAAF1@p.R103K 1 0.153846154 ENSG00000175575 chr11:73899171-73899171;G/A missense_variant False PAAF1@p.R201Q 1 0.130952381 ENSG00000175575 chr11:73909468-73909468;G/A missense_variant False PABPC1@p.A551T 1 0.316455696 ENSG00000070756 chr8:100705625-100705625;C/T missense_variant False PABPC1@p.G35W 1 0.146341463 ENSG00000070756 chr8:100721481-100721481;C/A missense_variant False PABPC1@p.G407_A411del 1 0.206896552 ENSG00000070756 chr8:100709470-100709484;CTGCCATGAAGTAAC/- inframe_deletion False PABPC1@p.L524V 1 0.040983607 ENSG00000070756 chr8:100706683-100706683;G/C missense_variant False PABPC1@p.Q60Sfs*13 1 0.542857143 ENSG00000070756 chr8:100721406-100721406;G/- frameshift_variant False PABPC1@p.Q624H 1 0.259887006 ENSG00000070756 chr8:100704337-100704337;C/G missense_variant False PABPC1@p.R374H 1 0.258928571 ENSG00000070756 chr8:100709583-100709583;C/T missense_variant False PABPC1L@p.D70H 1 0.298245614 ENSG00000101104 chr20:44912674-44912674;G/C missense_variant False PABPC3@p.D17Tfs*6 1 0.145454545 ENSG00000151846 chr13:25096243-25096243;G/- frameshift_variant False PABPC3@p.D286H 1 0.243478261 ENSG00000151846 chr13:25097054-25097054;G/C missense_variant False PABPC3@p.E328Q 1 0.111111111 ENSG00000151846 chr13:25097180-25097180;G/C missense_variant False PCDHA11@p.R742H 1 0.2 ENSG00000249158 chr5:140871328-140871328;G/A missense_variant False PCDHA12@p.A537V 1 0.532110092 ENSG00000251664 chr5:140877082-140877082;C/T missense_variant False PCDHA12@p.E513K 1 0.358851675 ENSG00000251664 chr5:140877009-140877009;G/A missense_variant False PDE1C@p.E25K 1 0.273504274 ENSG00000154678 chr7:32070321-32070321;C/T missense_variant False PDE1C@p.R664C 1 0.466101695 ENSG00000154678 chr7:31753524-31753524;G/A missense_variant False PDE1C@p.R307C 1 0.445544554 ENSG00000154678 chr7:31848029-31848029;G/A missense_variant False PDE1C@p.L243F 1 0.443037975 ENSG00000154678 chr7:31864965-31864965;G/A missense_variant False PDE1C@p.F187S 1 0.467741935 ENSG00000154678 chr7:31873341-31873341;A/G missense_variant False PDE1C@p.E557K 1 0.197530864 ENSG00000154678 chr7:31816068-31816068;C/T missense_variant False PDE1C@p.E271K 1 0.070175439 ENSG00000154678 chr7:31850681-31850681;C/T missense_variant False PDE1C@p.D92N 1 0.11627907 ENSG00000154678 chr7:31879147-31879147;C/T missense_variant False PDE2A@p.R563C 1 0.258928571 ENSG00000186642 chr11:72583479-72583479;G/A missense_variant False PDE1C@p.D681N 1 0.086666667 ENSG00000154678 chr7:31753473-31753473;C/T missense_variant False PDE1C@p.D104H 1 0.239130435 ENSG00000154678 chr7:31879111-31879111;C/G missense_variant False PDE1B@p.S299C 1 0.158333333 ENSG00000123360 chr12:54573414-54573414;C/G missense_variant False PDE1B@p.S145F 1 0.342105263 ENSG00000123360 chr12:54569569-54569569;C/T missense_variant False PDE1B@p.D230N 1 0.161057692 ENSG00000123360 chr12:54572694-54572694;G/A missense_variant False PDE1A@p.R379W 1 0.466101695 ENSG00000115252 chr2:182201477-182201477;G/A missense_variant False PDE1C@p.R708I 1 0.39245283 ENSG00000154678 chr7:31753391-31753391;C/A missense_variant False PDE3A@p.D721N 1 0.513888889 ENSG00000172572 chr12:20639867-20639867;G/A missense_variant False PCNX1@p.E1880K 1 0.85915493 ENSG00000100731 chr14:71102038-71102038;G/A missense_variant False PDE3B@p.A819V 1 0.179487179 ENSG00000152270 chr11:14843962-14843962;C/T missense_variant False PDE3B@p.S354L 1 0.194805195 ENSG00000152270 chr11:14786468-14786468;C/T missense_variant False PDE3B@p.R277L 1 0.2421875 ENSG00000152270 chr11:14644905-14644905;G/T missense_variant False PDE3B@p.M362T 1 0.272058824 ENSG00000152270 chr11:14786492-14786492;T/C missense_variant False PDE3B@p.L401V 1 0.21978022 ENSG00000152270 chr11:14786608-14786608;C/G missense_variant False PDE3B@p.G782R 1 0.253246753 ENSG00000152270 chr11:14843850-14843850;G/A missense_variant False PDE3B@p.F879L 1 0.421052632 ENSG00000152270 chr11:14859159-14859159;C/G missense_variant False PDE3A@p.S365C 1 0.579831933 ENSG00000172572 chr12:20613525-20613525;C/G missense_variant False PDE3A@p.E352K 1 0.170212766 ENSG00000172572 chr12:20613485-20613485;G/A missense_variant False PDE3A@p.R754K 1 0.447761194 ENSG00000172572 chr12:20646499-20646499;G/A missense_variant False PDE3A@p.R309W 1 0.346153846 ENSG00000172572 chr12:20370209-20370209;C/T missense_variant False PDE3A@p.P591T 1 0.382978723 ENSG00000172572 chr12:20633703-20633703;C/A missense_variant False PDE3A@p.L453M 1 0.367346939 ENSG00000172572 chr12:20616317-20616317;T/A missense_variant False PDE3A@p.I951M 1 0.5 ENSG00000172572 chr12:20650528-20650528;C/G missense_variant False PDE3A@p.G1010W 1 0.350877193 ENSG00000172572 chr12:20654049-20654049;G/T missense_variant False PDE1A@p.Q29K 1 0.204081633 ENSG00000115252 chr2:182522292-182522292;G/T missense_variant False PDE1A@p.I201V 1 0.581818182 ENSG00000115252 chr2:182230128-182230128;T/C missense_variant False PDE1A@p.D46Y 1 0.22 ENSG00000115252 chr2:182264380-182264380;C/A missense_variant False PDE11A@p.A126P 1 0.052083333 ENSG00000128655 chr2:178072062-178072062;C/G missense_variant False PDE11A@p.E786Q 1 0.133333333 ENSG00000128655 chr2:177680893-177680893;C/G missense_variant False PDE11A@p.E454D 1 0.166666667 ENSG00000128655 chr2:177875864-177875864;C/G missense_variant False PDE11A@p.E391Q 1 0.34 ENSG00000128655 chr2:177898189-177898189;C/G missense_variant False PDE11A@p.D259H 1 0.3 ENSG00000128655 chr2:178071663-178071663;C/G missense_variant False PDE11A@p.A62V 1 0.125 ENSG00000128655 chr2:178072253-178072253;G/A missense_variant False PDE11A@p.A62T 1 0.36 ENSG00000128655 chr2:178072254-178072254;C/T missense_variant False PDE10A@p.S760C 1 0.76119403 ENSG00000112541 chr6:165333117-165333117;T/A missense_variant False PDE1A@p.D188N 1 0.241758242 ENSG00000115252 chr2:182231035-182231035;C/T missense_variant False PDE10A@p.R767G 1 0.153846154 ENSG00000112541 chr6:165333096-165333096;G/C missense_variant False PDE10A@p.R520W 1 0.188405797 ENSG00000112541 chr6:165392744-165392744;G/A missense_variant False PDE10A@p.L752V 1 0.40625 ENSG00000112541 chr6:165336136-165336136;G/C missense_variant False PDE10A@p.K517del 1 0.153846154 ENSG00000112541 chr6:165392749-165392751;TTC/- inframe_deletion False PDCL@p.R68H 1 0.45 ENSG00000136940 chr9:122823167-122823167;C/T missense_variant False PDCL@p.H292Y 1 0.126213592 ENSG00000136940 chr9:122820117-122820117;G/A missense_variant False PDE11A@p.H18Q 1 0.275 ENSG00000128655 chr2:178072384-178072384;G/T missense_variant False PDE11A@p.I517V 1 0.646153846 ENSG00000128655 chr2:177820247-177820247;T/C missense_variant False PDE11A@p.I800L 1 0.166666667 ENSG00000128655 chr2:177680851-177680851;T/G missense_variant False PDE11A@p.Q279H 1 0.515789474 ENSG00000128655 chr2:178071601-178071601;C/A missense_variant False PDE11A@p.Q340R 1 0.833333333 ENSG00000128655 chr2:178014354-178014354;T/C missense_variant False PDE11A@p.S379L 1 0.214285714 ENSG00000128655 chr2:177905123-177905123;G/A missense_variant False PDE11A@p.V243M 1 0.43877551 ENSG00000128655 chr2:178071711-178071711;C/T missense_variant False PDE12@p.C277S 1 0.156626506 ENSG00000174840 chr3:57557208-57557208;T/A missense_variant False PDE12@p.C451Y 1 0.14893617 ENSG00000174840 chr3:57559353-57559353;G/A missense_variant False PDE12@p.E311K 1 0.309734513 ENSG00000174840 chr3:57557310-57557310;G/A missense_variant False PDE12@p.E573Q 1 0.15 ENSG00000174840 chr3:57559891-57559891;G/C missense_variant False PDE12@p.E582K 1 0.254901961 ENSG00000174840 chr3:57559918-57559918;G/A missense_variant False PDE12@p.F391L 1 0.2 ENSG00000174840 chr3:57557552-57557552;C/A missense_variant False PDE12@p.I466V 1 0.135802469 ENSG00000174840 chr3:57559570-57559570;A/G missense_variant False PDE12@p.R387Q 1 0.436363636 ENSG00000174840 chr3:57557539-57557539;G/A missense_variant False PDE12@p.S109L 1 0.6 ENSG00000174840 chr3:57556705-57556705;C/T missense_variant False PDE1A@p.D158H 1 0.045226131 ENSG00000115252 chr2:182231125-182231125;C/G missense_variant False PDE3B@p.S789L 1 0.293785311 ENSG00000152270 chr11:14843872-14843872;C/T missense_variant False PDE4A@p.D574H 1 0.4 ENSG00000065989 chr19:10461976-10461976;G/C missense_variant False PDE4A@p.D607G 1 0.112676056 ENSG00000065989 chr19:10463869-10463869;A/G missense_variant False PDE8A@p.Q77E 1 0.247524752 ENSG00000073417 chr15:85064412-85064412;C/G missense_variant False PDE9A@p.A69Rfs*35 1 0.518518519 ENSG00000160191 chr21:42687977-42687978;-/C frameshift_variant False PDE9A@p.A387S 1 0.4 ENSG00000160191 chr21:42762156-42762156;G/T missense_variant False PDE8B@p.R154T 1 0.063829787 ENSG00000284762 chr5:77325600-77325600;G/C missense_variant False PDE8B@p.L229V 1 0.078431373 ENSG00000284762 chr5:77331436-77331436;C/G missense_variant False PDE8B@p.E299K 1 0.461538462 ENSG00000284762 chr5:77349437-77349437;G/A missense_variant False PDE8A@p.R655W 1 0.64516129 ENSG00000073417 chr15:85123071-85123071;C/T missense_variant False PDE7B@p.W337C 1 0.1625 ENSG00000171408 chr6:136181289-136181289;G/C missense_variant False PDE6C@p.D589Y 1 0.333333333 ENSG00000095464 chr10:93640947-93640947;G/T missense_variant False PDE7A@p.R119T 1 0.306122449 ENSG00000205268 chr8:65747731-65747731;C/G missense_variant False PDE6H@p.K27N 1 0.24137931 ENSG00000139053 chr12:14978093-14978093;G/T missense_variant False PDE6G@p.D53N 1 0.727272727 ENSG00000185527 chr17:81651675-81651675;C/T missense_variant False PDE6C@p.S165F 1 0.144329897 ENSG00000095464 chr10:93620645-93620645;C/T missense_variant False PDE6C@p.Q474E 1 0.606060606 ENSG00000095464 chr10:93637001-93637001;C/G missense_variant False PDE6C@p.G74D 1 0.136363636 ENSG00000095464 chr10:93612946-93612946;G/A missense_variant False PDE9A@p.D239N 1 0.188741722 ENSG00000160191 chr21:42751177-42751177;G/A missense_variant False PDE9A@p.D568E 1 0.214285714 ENSG00000160191 chr21:42772456-42772456;C/A missense_variant False PDE9A@p.R297W 1 0.102564103 ENSG00000160191 chr21:42759077-42759077;A/T missense_variant False PDE9A@p.R583T 1 0.304347826 ENSG00000160191 chr21:42772500-42772500;G/C missense_variant False PDF@p.D243N 1 0.165562914 ENSG00000258429 chr16:69329027-69329027;C/T missense_variant False PDGFB@p.S69C 1 0.212765957 ENSG00000100311 chr22:39233479-39233479;G/C missense_variant False PDGFC@p.E112K 1 0.338983051 ENSG00000145431 chr4:156810998-156810998;C/T missense_variant False PDGFC@p.E293K 1 0.836734694 ENSG00000145431 chr4:156767817-156767817;C/T missense_variant False PDGFC@p.R69G 1 0.484848485 ENSG00000145431 chr4:156850330-156850330;T/C missense_variant False PDGFC@p.W75C 1 0.35 ENSG00000145431 chr4:156850310-156850310;C/G missense_variant False PDGFD@p.C296R 1 0.847826087 ENSG00000170962 chr11:103927013-103927013;A/G missense_variant False PDGFD@p.D107N 1 0.208333333 ENSG00000170962 chr11:104000061-104000061;C/T missense_variant False PDGFD@p.H45Y 1 0.291666667 ENSG00000170962 chr11:104000247-104000247;G/A missense_variant False PDGFD@p.K59N 1 0.236363636 ENSG00000170962 chr11:104000203-104000203;T/A missense_variant False PDGFD@p.P70T 1 0.227586207 ENSG00000170962 chr11:104000172-104000172;G/T missense_variant False PDGFD@p.R34H 1 0.203703704 ENSG00000170962 chr11:104163827-104163827;C/T missense_variant False PDGFD@p.S271G 1 0.378378378 ENSG00000170962 chr11:103927088-103927088;T/C missense_variant False PDE6C@p.E109K 1 0.142857143 ENSG00000095464 chr10:93613050-93613050;G/A missense_variant False PDE6B@p.G183R 1 0.202531646 ENSG00000133256 chr4:634755-634755;G/C missense_variant False PDE4A@p.E626Q 1 0.128205128 ENSG00000065989 chr19:10463925-10463925;G/C missense_variant False PDE4B@p.R576W 1 0.182795699 ENSG00000184588 chr1:66368850-66368850;C/T missense_variant False PDE4DIP@p.H1014Y 1 0.176470588 ENSG00000178104 chr1:148998278-148998278;C/T missense_variant False PDE4DIP@p.E521Q 1 0.173410405 ENSG00000178104 chr1:148966932-148966932;G/C missense_variant False PDE4DIP@p.D1069N 1 0.384831461 ENSG00000178104 chr1:149001658-149001658;G/A missense_variant False PDE4D@p.E315Q 1 0.302325581 ENSG00000113448 chr5:58993444-58993444;C/G missense_variant False PDE4B@p.V543I 1 0.194444444 ENSG00000184588 chr1:66368030-66368030;G/A missense_variant False PDE4B@p.R581H 1 0.408602151 ENSG00000184588 chr1:66368866-66368866;G/A missense_variant False PDE4B@p.P168Lfs*12 1 0.385542169 ENSG00000184588 chr1:66257671-66257671;T/- frameshift_variant False PDE6B@p.E639K 1 0.327586207 ENSG00000133256 chr4:663182-663182;G/A missense_variant False PDE4B@p.P168A 1 0.397590361 ENSG00000184588 chr1:66257672-66257672;C/G missense_variant False PDE4A@p.S15L 1 0.25 ENSG00000065989 chr19:10420808-10420808;C/T missense_variant False PDE4A@p.Q725H 1 0.352941176 ENSG00000065989 chr19:10467135-10467135;G/C missense_variant False PDE4A@p.P322T 1 0.15 ENSG00000065989 chr19:10457965-10457965;C/A missense_variant False PDE4A@p.E775K 1 0.086206897 ENSG00000065989 chr19:10467283-10467283;G/A missense_variant False PDE4A@p.E743K 1 0.254545455 ENSG00000065989 chr19:10467187-10467187;G/A missense_variant False PDE4DIP@p.I283V 1 0.192708333 ENSG00000178104 chr1:148961915-148961915;A/G missense_variant False PDE4DIP@p.L1441V 1 0.092857143 ENSG00000178104 chr1:149005343-149005343;C/G missense_variant False PDE4DIP@p.P1136L 1 0.237569061 ENSG00000178104 chr1:149001860-149001860;C/T missense_variant False PDE4DIP@p.Q277E 1 0.141891892 ENSG00000178104 chr1:148961897-148961897;C/G missense_variant False PDE4DIP@p.R510C 1 0.191304348 ENSG00000178104 chr1:148966899-148966899;C/T missense_variant False PDE4DIP@p.R881T 1 0.273809524 ENSG00000178104 chr1:148979804-148979804;G/C missense_variant False PDE4DIP@p.S1383L 1 0.166666667 ENSG00000178104 chr1:149005170-149005170;C/T missense_variant False PDE4DIP@p.S1644F 1 0.284090909 ENSG00000178104 chr1:149010446-149010446;C/T missense_variant False PDE5A@p.A245S 1 0.458715596 ENSG00000138735 chr4:119606717-119606717;C/A missense_variant False PDE5A@p.F251V 1 0.333333333 ENSG00000138735 chr4:119596603-119596603;A/C missense_variant False PDE5A@p.I371V 1 0.275510204 ENSG00000138735 chr4:119562853-119562853;T/C missense_variant False PDE5A@p.I556Lfs*35 1 0.185185185 ENSG00000138735 chr4:119525668-119525668;G/- frameshift_variant False PDE5A@p.R12Q 1 0.736842105 ENSG00000138735 chr4:119628637-119628637;C/T missense_variant False PDE5A@p.V415I 1 0.172727273 ENSG00000138735 chr4:119553703-119553703;C/T missense_variant False PDE6A@p.R257Q 1 0.483333333 ENSG00000132915 chr5:149931116-149931116;C/T missense_variant False PDE6B@p.D479N 1 0.233333333 ENSG00000133256 chr4:658985-658985;G/A missense_variant False PDE6B@p.E484K 1 0.166666667 ENSG00000133256 chr4:659000-659000;G/A missense_variant False PDCL3@p.E68K 1 0.52173913 ENSG00000115539 chr2:100568999-100568999;G/A missense_variant False PDCD7@p.T480I 1 0.16 ENSG00000090470 chr15:65118736-65118736;G/A missense_variant False PDCD7@p.F25L 1 0.416666667 ENSG00000090470 chr15:65133707-65133707;G/T missense_variant False PCNX4@p.S950L 1 0.42 ENSG00000126773 chr14:60125020-60125020;C/T missense_variant False PCOLCE@p.S152L 1 0.12195122 ENSG00000106333 chr7:100604209-100604209;C/T missense_variant False PCOLCE@p.Q440E 1 0.577181208 ENSG00000106333 chr7:100608071-100608071;C/G missense_variant False PCOLCE2@p.S128F 1 0.378640777 ENSG00000163710 chr3:142848282-142848282;G/A missense_variant False PCOLCE2@p.R226T 1 0.451428571 ENSG00000163710 chr3:142838803-142838803;C/G missense_variant False PCOLCE2@p.G51R 1 0.37037037 ENSG00000163710 chr3:142887710-142887710;C/T missense_variant False PCNX4@p.V769I 1 0.104651163 ENSG00000126773 chr14:60124476-60124476;G/A missense_variant False PCNX4@p.L880V 1 0.55 ENSG00000126773 chr14:60124809-60124809;C/G missense_variant False PCNX4@p.D700H 1 0.285714286 ENSG00000126773 chr14:60124269-60124269;G/C missense_variant False PCNX4@p.L549F 1 0.333333333 ENSG00000126773 chr14:60118397-60118397;G/C missense_variant False PCNX4@p.L47P 1 0.246753247 ENSG00000126773 chr14:60107778-60107778;T/C missense_variant False PCNX4@p.L395F 1 0.079136691 ENSG00000126773 chr14:60115289-60115289;G/C missense_variant False PCNX4@p.I247F 1 0.804878049 ENSG00000126773 chr14:60114749-60114749;A/T missense_variant False PCNX4@p.E125K 1 0.260869565 ENSG00000126773 chr14:60108011-60108011;G/A missense_variant False PCNX4@p.E115K 1 0.192307692 ENSG00000126773 chr14:60107981-60107981;G/A missense_variant False PCOLCE@p.V75A 1 0.40952381 ENSG00000106333 chr7:100603978-100603978;T/C missense_variant False PCP2@p.A135V 1 0.346153846 ENSG00000174788 chr19:7631696-7631696;G/A missense_variant False PCP4@p.Q49E 1 0.234042553 ENSG00000183036 chr21:39929067-39929067;C/G missense_variant False PCSK1@p.A21V 1 0.218446602 ENSG00000175426 chr5:96432981-96432981;G/A missense_variant False PCSK1@p.E466K 1 0.684210526 ENSG00000175426 chr5:96399987-96399987;C/T missense_variant False PCSK1@p.E498Q 1 0.379310345 ENSG00000175426 chr5:96398975-96398975;C/G missense_variant False PCSK1@p.H557Y 1 0.272727273 ENSG00000175426 chr5:96397389-96397389;G/A missense_variant False PCSK1@p.S384C 1 0.12 ENSG00000175426 chr5:96408268-96408268;G/C missense_variant False PCSK1@p.T87S 1 0.307692308 ENSG00000175426 chr5:96429238-96429238;G/C missense_variant False PCSK2@p.A98T 1 0.21875 ENSG00000125851 chr20:17358336-17358336;G/A missense_variant False PCSK2@p.D168N 1 0.65 ENSG00000125851 chr20:17360637-17360637;G/A missense_variant False PCSK2@p.D337N 1 0.113636364 ENSG00000125851 chr20:17453865-17453865;G/A missense_variant False PCSK2@p.F205C 1 0.452054795 ENSG00000125851 chr20:17409333-17409333;T/G missense_variant False PCSK2@p.G403S 1 0.306666667 ENSG00000125851 chr20:17465330-17465330;G/A missense_variant False PCSK2@p.R106Q 1 0.306818182 ENSG00000125851 chr20:17358361-17358361;G/A missense_variant False PCSK4@p.E557Q 1 0.288135593 ENSG00000115257 chr19:1482923-1482923;C/G missense_variant False PCSK4@p.P66R 1 0.2 ENSG00000115257 chr19:1489890-1489890;G/C missense_variant False PCNX4@p.D936H 1 0.305555556 ENSG00000126773 chr14:60124977-60124977;G/C missense_variant False PCNX4@p.A962S 1 0.265306122 ENSG00000126773 chr14:60125055-60125055;G/T missense_variant False PCSK5@p.D1350N 1 0.333333333 ENSG00000099139 chr9:76323078-76323078;G/A missense_variant False PCNX2@p.E1716K 1 0.533333333 ENSG00000135749 chr1:233000487-233000487;C/T missense_variant False PCNX2@p.G365E 1 0.322916667 ENSG00000135749 chr1:233258768-233258768;C/T missense_variant False PCNX2@p.G1903R 1 0.342465753 ENSG00000135749 chr1:232998335-232998335;C/G missense_variant False PCNX2@p.G148R 1 0.287878788 ENSG00000135749 chr1:233262083-233262083;C/G missense_variant False PCNX2@p.G1408V 1 0.394736842 ENSG00000135749 chr1:233054396-233054396;C/A missense_variant False PCNX2@p.E503K 1 0.231707317 ENSG00000135749 chr1:233258355-233258355;C/T missense_variant False PCNX2@p.E244K 1 0.1625 ENSG00000135749 chr1:233259132-233259132;C/T missense_variant False PCNX2@p.D179G 1 0.333333333 ENSG00000135749 chr1:233259326-233259326;T/C missense_variant False PCNX3@p.V1297I 1 0.411764706 ENSG00000197136 chr11:65628896-65628896;G/A missense_variant False PCNX1@p.S749F 1 0.076923077 ENSG00000100731 chr14:70978583-70978583;C/T missense_variant False PCNX1@p.S518R 1 0.329411765 ENSG00000100731 chr14:70977891-70977891;T/A missense_variant False PCNX1@p.S2108F 1 0.403508772 ENSG00000100731 chr14:71108625-71108625;C/T missense_variant False PCNX1@p.R568Tfs*3 1 0.219298246 ENSG00000100731 chr14:70978031-70978032;-/A frameshift_variant False PCNX1@p.Q1987H 1 0.092436975 ENSG00000100731 chr14:71103535-71103535;A/T missense_variant False PCNX1@p.L937I 1 0.12972973 ENSG00000100731 chr14:71013015-71013015;C/A missense_variant False PCNX2@p.H1047R 1 0.25 ENSG00000135749 chr1:233179102-233179102;T/C missense_variant False PCNX2@p.H154Y 1 0.153846154 ENSG00000135749 chr1:233262065-233262065;G/A missense_variant False PCNX2@p.I1156V 1 0.12195122 ENSG00000135749 chr1:233160334-233160334;T/C missense_variant False PCNX2@p.I295Nfs*22 1 0.15625 ENSG00000135749 chr1:233258978-233258979;-/T frameshift_variant False PCNX2@p.L792V 1 0.416666667 ENSG00000135749 chr1:233227356-233227356;G/C missense_variant False PCNX2@p.L946V 1 0.181818182 ENSG00000135749 chr1:233208545-233208545;G/C missense_variant False PCNX2@p.Q616L 1 0.392857143 ENSG00000135749 chr1:233252776-233252776;T/A missense_variant False PCNX2@p.R950K 1 0.268292683 ENSG00000135749 chr1:233208532-233208532;C/T missense_variant False PCNX2@p.S1972L 1 0.19047619 ENSG00000135749 chr1:232986417-232986417;G/A missense_variant False PCNX2@p.S948L 1 0.25862069 ENSG00000135749 chr1:233208538-233208538;G/A missense_variant False PCNX3@p.D223G 1 0.466666667 ENSG00000197136 chr11:65618030-65618030;A/G missense_variant False PCNX3@p.F1093del 1 0.2 ENSG00000197136 chr11:65625948-65625950;CTT/- inframe_deletion False PCNX3@p.P1117S 1 0.166666667 ENSG00000197136 chr11:65626024-65626024;C/T missense_variant False PCNX3@p.R167W 1 0.12 ENSG00000197136 chr11:65617628-65617628;C/T missense_variant False PCNX3@p.R1766C 1 0.272727273 ENSG00000197136 chr11:65635640-65635640;C/T missense_variant False PCNX3@p.S348L 1 0.166666667 ENSG00000197136 chr11:65618405-65618405;C/T missense_variant False PCNX3@p.S607L 1 0.2 ENSG00000197136 chr11:65619651-65619651;C/T missense_variant False PCSK5@p.C25F 1 0.302325581 ENSG00000099139 chr9:75891255-75891255;G/T missense_variant False PCSK5@p.D277N 1 0.384364821 ENSG00000099139 chr9:76071833-76071833;G/A missense_variant False PDCD7@p.E346D 1 0.082352941 ENSG00000090470 chr15:65119926-65119926;C/G missense_variant False PDCD11@p.V1641M 1 0.638461538 ENSG00000148843 chr10:103442426-103442426;G/A missense_variant False PDCD2@p.A316_V317del 1 0.176470588 ENSG00000071994 chr6:170577643-170577648;GACAGC/- inframe_deletion False PDCD1LG2@p.T263P 1 0.225806452 ENSG00000197646 chr9:5563182-5563182;A/C missense_variant False PDCD1LG2@p.G53V 1 0.186046512 ENSG00000197646 chr9:5534847-5534847;G/T missense_variant False PDCD1LG2@p.E97K 1 0.397260274 ENSG00000197646 chr9:5534978-5534978;G/A missense_variant False PDCD1@p.R231Q 1 0.185185185 ENSG00000188389 chr2:241851233-241851233;C/T missense_variant False PDCD1@p.E150K 1 0.386363636 ENSG00000188389 chr2:241852342-241852342;C/T missense_variant False PDCD11@p.K721N 1 0.413461538 ENSG00000148843 chr10:103419594-103419594;G/T missense_variant False PDAP1@p.E30K 1 0.269230769 ENSG00000106244 chr7:99404879-99404879;C/T missense_variant False PDCD11@p.I499M 1 0.166666667 ENSG00000148843 chr10:103415130-103415130;C/G missense_variant False PDCD11@p.E1141K 1 0.198198198 ENSG00000148843 chr10:103432181-103432181;G/A missense_variant False PDCD11@p.E1015K 1 0.483333333 ENSG00000148843 chr10:103425263-103425263;G/A missense_variant False PDCD11@p.D1404H 1 0.178947368 ENSG00000148843 chr10:103440351-103440351;G/C missense_variant False PDCD10@p.R82G 1 0.311594203 ENSG00000114209 chr3:167697033-167697033;G/C missense_variant False PDCD10@p.E52Q 1 0.155172414 ENSG00000114209 chr3:167697123-167697123;C/G missense_variant False PDCD2@p.R165K 1 0.153846154 ENSG00000071994 chr6:170583537-170583537;C/T missense_variant False PDCD2L@p.K311N 1 0.180672269 ENSG00000126249 chr19:34421654-34421654;G/C missense_variant False PDCD4@p.E195K 1 0.407894737 ENSG00000150593 chr10:110887692-110887692;G/A missense_variant False PDCD4@p.H360N 1 0.153846154 ENSG00000150593 chr10:110894178-110894178;C/A missense_variant False PDCD4@p.I45V 1 0.205128205 ENSG00000150593 chr10:110881322-110881322;A/G missense_variant False PDCD4@p.K114N 1 0.188034188 ENSG00000150593 chr10:110881531-110881531;G/C missense_variant False PDCD4@p.S67L 1 0.233009709 ENSG00000150593 chr10:110881389-110881389;C/T missense_variant False PDCD5@p.D122H 1 0.08045977 ENSG00000105185 chr19:32587286-32587286;G/C missense_variant False PDCD5@p.G81R 1 0.153284672 ENSG00000105185 chr19:32585890-32585890;G/A missense_variant False PDCD5@p.R114K 1 0.158536585 ENSG00000105185 chr19:32587263-32587263;G/A missense_variant False PDCD6@p.D128H 1 0.297297297 ENSG00000249915 chr5:311307-311307;G/C missense_variant False PDCD6@p.D38V 1 0.272727273 ENSG00000249915 chr5:272722-272722;A/T missense_variant False PDCD6@p.S67L 1 0.175 ENSG00000249915 chr5:304213-304213;C/T missense_variant False PDCD6@p.T93M 1 0.367346939 ENSG00000249915 chr5:306671-306671;C/T missense_variant False PDCD6IP@p.H516D 1 0.231578947 ENSG00000170248 chr3:33845493-33845493;C/G missense_variant False PDCD6IP@p.I75F 1 0.276923077 ENSG00000170248 chr3:33812085-33812085;A/T missense_variant False PDCD6IP@p.Q858E 1 0.446540881 ENSG00000170248 chr3:33866490-33866490;C/G missense_variant False PDAP1@p.R6K 1 0.24 ENSG00000106244 chr7:99404950-99404950;C/T missense_variant False PCYT2@p.R184W 1 0.138888889 ENSG00000185813 chr17:81906886-81906886;G/A missense_variant False PCSK5@p.D473N 1 0.095652174 ENSG00000099139 chr9:76157149-76157149;G/A missense_variant False PCSK6@p.E288K 1 0.465517241 ENSG00000140479 chr15:101398538-101398538;C/T missense_variant False PCSK6@p.P879A 1 0.075 ENSG00000140479 chr15:101313440-101313440;G/C missense_variant False PCSK6@p.P318L 1 0.244680851 ENSG00000140479 chr15:101398447-101398447;G/A missense_variant False PCSK6@p.G317W 1 0.128571429 ENSG00000140479 chr15:101398451-101398451;C/A missense_variant False PCSK6@p.F128S 1 0.288461538 ENSG00000140479 chr15:101443575-101443575;A/G missense_variant False PCSK6@p.E888K 1 0.147727273 ENSG00000140479 chr15:101313413-101313413;C/T missense_variant False PCSK6@p.E587K 1 0.111111111 ENSG00000140479 chr15:101366295-101366295;C/T missense_variant False PCSK6@p.D577N 1 0.125 ENSG00000140479 chr15:101366325-101366325;C/T missense_variant False PCYT2@p.N106H 1 0.320987654 ENSG00000185813 chr17:81908900-81908900;T/G missense_variant False PCSK5@p.S728L 1 0.382113821 ENSG00000099139 chr9:76181577-76181577;C/T missense_variant False PCSK5@p.K683N 1 0.340909091 ENSG00000099139 chr9:76181443-76181443;G/C missense_variant False PCSK5@p.G4R 1 0.363636364 ENSG00000099139 chr9:75891191-75891191;G/A missense_variant False PCSK5@p.G1758E 1 0.125 ENSG00000099139 chr9:76358612-76358612;G/A missense_variant False PCSK5@p.G1399E 1 0.150943396 ENSG00000099139 chr9:76323226-76323226;G/A missense_variant False PCSK5@p.D682N 1 0.880952381 ENSG00000099139 chr9:76181438-76181438;G/A missense_variant False PCSK7@p.E754Q 1 0.366666667 ENSG00000160613 chr11:117206095-117206095;C/G missense_variant False PCSK7@p.G189A 1 0.333333333 ENSG00000160613 chr11:117228253-117228253;C/G missense_variant False PCSK7@p.G320A 1 0.357142857 ENSG00000160613 chr11:117224173-117224173;C/G missense_variant False PCSK7@p.L688F 1 0.540540541 ENSG00000160613 chr11:117206291-117206291;C/G missense_variant False PCSK7@p.R429S 1 0.142857143 ENSG00000160613 chr11:117219629-117219629;G/T missense_variant False PCSK9@p.E403K 1 0.132352941 ENSG00000169174 chr1:55058062-55058062;G/A missense_variant False PCSK9@p.E431K 1 0.362318841 ENSG00000169174 chr1:55058146-55058146;G/A missense_variant False PCSK9@p.F418L 1 0.47706422 ENSG00000169174 chr1:55058109-55058109;C/A missense_variant False PCSK9@p.R218T 1 0.216216216 ENSG00000169174 chr1:55052407-55052407;G/C missense_variant False PCSK9@p.S329L 1 0.384615385 ENSG00000169174 chr1:55056179-55056179;C/T missense_variant False PCYOX1@p.K291N 1 0.181818182 ENSG00000116005 chr2:70276747-70276747;G/C missense_variant False PCYOX1L@p.A215T 1 0.464285714 ENSG00000145882 chr5:149366114-149366114;G/A missense_variant False PCYOX1L@p.G339C 1 0.45112782 ENSG00000145882 chr5:149368184-149368184;G/T missense_variant False PCYOX1L@p.S220L 1 0.244444444 ENSG00000145882 chr5:149366130-149366130;C/T missense_variant False PCYOX1L@p.T362Rfs*59 1 0.106060606 ENSG00000145882 chr5:149368252-149368253;CA/- frameshift_variant False PCYT1A@p.R211Q 1 0.36809816 ENSG00000161217 chr3:196242024-196242024;C/T missense_variant False PCYT1B@p.F121L 1 0.148148148 ENSG00000102230 chrX:24590146-24590146;G/C missense_variant False PDGFRA@p.A491T 1 0.163636364 ENSG00000134853 chr4:54273643-54273643;G/A missense_variant True PDGFRA@p.D423A 1 0.435897436 ENSG00000134853 chr4:54272424-54272424;A/C missense_variant True PDGFRA@p.E1051K 1 0.326732673 ENSG00000134853 chr4:54295153-54295153;G/A missense_variant True PEAK1@p.E229Q 1 0.161904762 ENSG00000173517 chr15:77181242-77181242;C/G missense_variant False PEAK1@p.H1034Y 1 0.296296296 ENSG00000173517 chr15:77178827-77178827;G/A missense_variant False PEAK1@p.G1320A 1 0.169811321 ENSG00000173517 chr15:77133123-77133123;C/G missense_variant False PEAK1@p.E96D 1 0.211267606 ENSG00000173517 chr15:77181639-77181639;C/G missense_variant False PEAK1@p.E944D 1 0.136363636 ENSG00000173517 chr15:77179095-77179095;C/G missense_variant False PEAK1@p.E750K 1 0.1 ENSG00000173517 chr15:77179679-77179679;C/T missense_variant False PEAK1@p.E235D 1 0.242647059 ENSG00000173517 chr15:77181222-77181222;C/G missense_variant False PEAK1@p.E1592Q 1 0.112903226 ENSG00000173517 chr15:77114623-77114623;C/G missense_variant False PDZRN4@p.E969K 1 0.357142857 ENSG00000165966 chr12:41573684-41573684;G/A missense_variant False PEAK1@p.E1412Q 1 0.225 ENSG00000173517 chr15:77115163-77115163;C/G missense_variant False PEAK1@p.E1054Q 1 0.395833333 ENSG00000173517 chr15:77158674-77158674;C/G missense_variant False PEAK1@p.E1021Q 1 0.541666667 ENSG00000173517 chr15:77178866-77178866;C/G missense_variant False PEA15@p.S116* 1 0.108695652 ENSG00000162734 chr1:160213438-160213439;CT/- frameshift_variant False PEA15@p.E34K 1 0.441176471 ENSG00000162734 chr1:160211644-160211644;G/A missense_variant False PDZRN4@p.Y602H 1 0.388888889 ENSG00000165966 chr12:41572583-41572583;T/C missense_variant False PEAK1@p.I1599L 1 0.340909091 ENSG00000173517 chr15:77114602-77114602;T/G missense_variant False PEAK1@p.K733N 1 0.111111111 ENSG00000173517 chr15:77179728-77179728;C/G missense_variant False PEAK1@p.Q1444H 1 0.541666667 ENSG00000173517 chr15:77115065-77115065;C/G missense_variant False PEAK1@p.R303K 1 0.220779221 ENSG00000173517 chr15:77181019-77181019;C/T missense_variant False PEAK1@p.S719L 1 0.229166667 ENSG00000173517 chr15:77179771-77179771;G/A missense_variant False PEAK1@p.S786A 1 0.25 ENSG00000173517 chr15:77179571-77179571;A/C missense_variant False PEAK1@p.S878F 1 0.246753247 ENSG00000173517 chr15:77179294-77179294;G/A missense_variant False PEAK1@p.T571I 1 0.24375 ENSG00000173517 chr15:77180215-77180215;G/A missense_variant False PEAK3@p.T23M 1 0.260869565 ENSG00000188305 chr19:2280864-2280864;G/A missense_variant False PEAR1@p.S821G 1 0.256637168 ENSG00000187800 chr1:156913232-156913232;A/G missense_variant False PEBP4@p.Q198H 1 0.266666667 ENSG00000134020 chr8:22713460-22713460;C/G missense_variant False PECR@p.Y137C 1 0.30952381 ENSG00000115425 chr2:216065326-216065326;T/C missense_variant False PEF1@p.Y4H 1 0.333333333 ENSG00000162517 chr1:31644855-31644855;A/G missense_variant False PEG3@p.A518V 1 0.142857143 ENSG00000198300 chr19:56816889-56816889;G/A missense_variant False PEG3@p.C114S 1 0.0625 ENSG00000198300 chr19:56824315-56824315;C/G missense_variant False PEG3@p.D1156Y 1 0.507853403 ENSG00000198300 chr19:56814976-56814976;C/A missense_variant False PEG3@p.D1198Y 1 0.244094488 ENSG00000198300 chr19:56814850-56814850;C/A missense_variant False PDZRN4@p.S365L 1 0.173076923 ENSG00000165966 chr12:41506706-41506706;C/T missense_variant False PDZRN4@p.E743Q 1 0.138888889 ENSG00000165966 chr12:41573006-41573006;G/C missense_variant False PEG3@p.D992N 1 0.425742574 ENSG00000198300 chr19:56815468-56815468;C/T missense_variant False PDZD4@p.G632V 1 0.490566038 ENSG00000067840 chrX:153803768-153803768;C/A missense_variant False PDZD8@p.E737K 1 0.214285714 ENSG00000165650 chr10:117284524-117284524;C/T missense_variant False PDZD8@p.D1126H 1 0.243902439 ENSG00000165650 chr10:117283357-117283357;C/G missense_variant False PDZD7@p.R463H 1 0.204081633 ENSG00000186862 chr10:101018233-101018233;C/T missense_variant False PDZD7@p.G494R 1 0.141304348 ENSG00000186862 chr10:101018141-101018141;C/T missense_variant False PDZD7@p.G377E 1 0.428571429 ENSG00000186862 chr10:101019016-101019016;C/T missense_variant False PDZD7@p.E506K 1 0.110091743 ENSG00000186862 chr10:101018105-101018105;C/T missense_variant False PDZD4@p.E594Q 1 0.6 ENSG00000067840 chrX:153803883-153803883;C/G missense_variant False PDZRN4@p.E743K 1 0.263157895 ENSG00000165966 chr12:41573006-41573006;G/A missense_variant False PDZD4@p.E154Q 1 0.815217391 ENSG00000067840 chrX:153806768-153806768;C/G missense_variant False PDZD4@p.A470V 1 0.684210526 ENSG00000067840 chrX:153804254-153804254;G/A missense_variant False PDZD2@p.Y518H 1 0.536363636 ENSG00000133401 chr5:32048571-32048571;T/C missense_variant False PDZD2@p.S759R 1 0.513513514 ENSG00000133401 chr5:32059315-32059315;C/G missense_variant False PDZD2@p.S1163F 1 0.61971831 ENSG00000133401 chr5:32074594-32074594;C/T missense_variant False PDZD2@p.S1031L 1 0.674157303 ENSG00000133401 chr5:32074198-32074198;C/T missense_variant False PDZD8@p.Q677E 1 0.184210526 ENSG00000165650 chr10:117284704-117284704;G/C missense_variant False PDZD8@p.S1142R 1 0.206896552 ENSG00000165650 chr10:117283309-117283309;T/G missense_variant False PDZD8@p.S733R 1 0.7 ENSG00000165650 chr10:117284534-117284534;A/T missense_variant False PDZK1@p.L149V 1 0.159090909 ENSG00000174827 chr1:145686492-145686492;G/C missense_variant False PDZK1@p.R36L 1 0.044722719 ENSG00000174827 chr1:145687915-145687915;C/A missense_variant False PDZRN3@p.D751N 1 0.636363636 ENSG00000121440 chr3:73384315-73384315;C/T missense_variant False PDZRN3@p.E365K 1 0.428571429 ENSG00000121440 chr3:73404221-73404221;C/T missense_variant False PDZRN3@p.E482K 1 0.456647399 ENSG00000121440 chr3:73388042-73388042;C/T missense_variant False PDZRN3@p.E966K 1 0.173913043 ENSG00000121440 chr3:73383670-73383670;C/T missense_variant False PDZRN3@p.G467E 1 0.245614035 ENSG00000121440 chr3:73389832-73389832;C/T missense_variant False PDZRN3@p.G845R 1 0.592592593 ENSG00000121440 chr3:73384033-73384033;C/T missense_variant False PDZRN3@p.R1029K 1 0.22972973 ENSG00000121440 chr3:73383480-73383480;C/T missense_variant False PDZRN3@p.T660N 1 0.345454545 ENSG00000121440 chr3:73384587-73384587;G/T missense_variant False PDZRN3@p.V681L 1 0.388888889 ENSG00000121440 chr3:73384525-73384525;C/A missense_variant False PDZRN4@p.A804T 1 0.242647059 ENSG00000165966 chr12:41573189-41573189;G/A missense_variant False PDZRN4@p.E26K 1 0.333333333 ENSG00000165966 chr12:41188531-41188531;G/A missense_variant False PDZRN4@p.E492K 1 0.15942029 ENSG00000165966 chr12:41567789-41567789;G/A missense_variant False PEG3@p.D1489H 1 0.369047619 ENSG00000198300 chr19:56813977-56813977;C/G missense_variant False PEG3@p.E1027Q 1 0.130434783 ENSG00000198300 chr19:56815363-56815363;C/G missense_variant False PDZD2@p.Q1921H 1 0.048387097 ENSG00000133401 chr5:32089211-32089211;G/C missense_variant False PER3@p.H238L 1 0.123076923 ENSG00000049246 chr1:7798596-7798596;A/T missense_variant False PERP@p.S46W 1 0.285714286 ENSG00000112378 chr6:138107204-138107204;G/C missense_variant False PERP@p.L139V 1 0.19858156 ENSG00000112378 chr6:138092209-138092209;G/C missense_variant False PER3@p.S731L 1 0.25 ENSG00000049246 chr1:7827145-7827145;C/T missense_variant False PER3@p.S568F 1 0.590163934 ENSG00000049246 chr1:7820183-7820183;C/T missense_variant False PER3@p.S364I 1 0.451219512 ENSG00000049246 chr1:7803806-7803806;G/T missense_variant False PER3@p.L1044M 1 0.465753425 ENSG00000049246 chr1:7830104-7830104;C/A missense_variant False PER3@p.E953Q 1 0.289473684 ENSG00000049246 chr1:7827810-7827810;G/C missense_variant False PER2@p.E507K 1 0.255434783 ENSG00000132326 chr2:238260851-238260851;C/T missense_variant False PER3@p.E687Q 1 0.381818182 ENSG00000049246 chr1:7826605-7826605;G/C missense_variant False PER3@p.E668K 1 0.319444444 ENSG00000049246 chr1:7826548-7826548;G/A missense_variant False PER3@p.E256Q 1 0.323529412 ENSG00000049246 chr1:7798649-7798649;G/C missense_variant False PER3@p.E1198Q 1 0.247191011 ENSG00000049246 chr1:7842741-7842741;G/C missense_variant False PER3@p.A788V 1 0.3375 ENSG00000049246 chr1:7827316-7827316;C/T missense_variant False PER2@p.G405R 1 0.25 ENSG00000132326 chr2:238262285-238262285;C/T missense_variant False PES1@p.F142L 1 0.121212121 ENSG00000100029 chr22:30584660-30584660;G/C missense_variant False PEX10@p.E44Q 1 0.378378378 ENSG00000157911 chr1:2410434-2410434;C/G missense_variant False PEX11A@p.L183I 1 0.49689441 ENSG00000166821 chr15:89683574-89683574;G/T missense_variant False PEX11B@p.S151F 1 0.125 ENSG00000131779 chr1:145912489-145912489;G/A missense_variant False PEX12@p.F256L 1 0.363636364 ENSG00000108733 chr17:35576094-35576094;G/C missense_variant False PEX12@p.L123F 1 0.186335404 ENSG00000108733 chr17:35577351-35577351;G/A missense_variant False PEX12@p.M300I 1 0.19047619 ENSG00000108733 chr17:35575962-35575962;C/T missense_variant False PEX12@p.S149C 1 0.387755102 ENSG00000108733 chr17:35577272-35577272;G/C missense_variant False PEX12@p.T346K 1 0.426470588 ENSG00000108733 chr17:35575825-35575825;G/T missense_variant False PEX14@p.E26K 1 0.304347826 ENSG00000142655 chr1:10495313-10495313;G/A missense_variant False PEX14@p.Q182H 1 0.339622642 ENSG00000142655 chr1:10624398-10624398;G/C missense_variant False PEX19@p.D118H 1 0.167938931 ENSG00000162735 chr1:160282497-160282497;C/G missense_variant False PEX19@p.D260N 1 0.392857143 ENSG00000162735 chr1:160279839-160279839;C/T missense_variant False PEX19@p.E241K 1 0.048355899 ENSG00000162735 chr1:160280120-160280120;C/T missense_variant False PEX19@p.F125C 1 0.5 ENSG00000162735 chr1:160282475-160282475;A/C missense_variant False PEX19@p.F87Lfs*5 1 0.349206349 ENSG00000162735 chr1:160283029-160283029;G/- frameshift_variant False PEX19@p.S40F 1 0.218181818 ENSG00000162735 chr1:160283591-160283591;G/A missense_variant False PER2@p.E569K 1 0.180327869 ENSG00000132326 chr2:238258567-238258567;C/T missense_variant False PER1@p.T228M 1 0.074468085 ENSG00000179094 chr17:8149632-8149632;G/A missense_variant False PEG3@p.E1027Sfs*118 1 0.512820513 ENSG00000198300 chr19:56815364-56815364;T/- frameshift_variant False PEG3@p.P198S 1 0.228571429 ENSG00000198300 chr19:56821728-56821728;G/A missense_variant False PELI2@p.L253V 1 0.191489362 ENSG00000139946 chr14:56296660-56296660;C/G missense_variant False PELI2@p.I71M 1 0.211267606 ENSG00000139946 chr14:56279681-56279681;C/G missense_variant False PELI1@p.L345M 1 0.289156627 ENSG00000197329 chr2:64094926-64094926;G/T missense_variant False PELI1@p.L238V 1 0.371428571 ENSG00000197329 chr2:64095247-64095247;A/C missense_variant False PELI1@p.D5N 1 0.286259542 ENSG00000197329 chr2:64108298-64108298;C/T missense_variant False PEG3@p.Q1558P 1 0.12962963 ENSG00000198300 chr19:56813769-56813769;T/G missense_variant False PEG3@p.H724Y 1 0.156862745 ENSG00000198300 chr19:56816272-56816272;G/A missense_variant False PER1@p.R253H 1 0.196428571 ENSG00000179094 chr17:8149557-8149557;C/T missense_variant False PEG3@p.G910E 1 0.07751938 ENSG00000198300 chr19:56815713-56815713;C/T missense_variant False PEG3@p.E92Q 1 0.337349398 ENSG00000198300 chr19:56824382-56824382;C/G missense_variant False PEG3@p.E915K 1 0.144578313 ENSG00000198300 chr19:56815699-56815699;C/T missense_variant False PEG3@p.E417Q 1 0.204545455 ENSG00000198300 chr19:56817193-56817193;C/G missense_variant False PEG3@p.E37K 1 0.638655462 ENSG00000198300 chr19:56824547-56824547;C/T missense_variant False PEG3@p.E1435K 1 0.316666667 ENSG00000198300 chr19:56814139-56814139;C/T missense_variant False PELI2@p.Q267E 1 0.136363636 ENSG00000139946 chr14:56296702-56296702;C/G missense_variant False PELI2@p.S212Y 1 0.241545894 ENSG00000139946 chr14:56290395-56290395;C/A missense_variant False PELI3@p.P253L 1 0.222222222 ENSG00000174516 chr11:66473843-66473843;C/T missense_variant False PELP1@p.D1104N 1 0.2 ENSG00000141456 chr17:4671522-4671522;C/T missense_variant False PELP1@p.E1070Q 1 0.294117647 ENSG00000141456 chr17:4671783-4671783;C/G missense_variant False PELP1@p.R428W 1 0.223214286 ENSG00000141456 chr17:4674949-4674949;G/A missense_variant False PELP1@p.S685L 1 0.411764706 ENSG00000141456 chr17:4672937-4672937;G/A missense_variant False PEMT@p.L96P 1 0.153846154 ENSG00000133027 chr17:17512577-17512577;A/G missense_variant False PENK@p.E256K 1 0.370748299 ENSG00000181195 chr8:56441310-56441310;C/T missense_variant False PENK@p.G102D 1 0.2 ENSG00000181195 chr8:56441771-56441771;C/T missense_variant False PENK@p.R229W 1 0.434782609 ENSG00000181195 chr8:56441391-56441391;G/A missense_variant False PENK@p.Y107N 1 0.418918919 ENSG00000181195 chr8:56441757-56441757;A/T missense_variant False PEPD@p.E53K 1 0.191919192 ENSG00000124299 chr19:33512637-33512637;C/T missense_variant False PEPD@p.P469L 1 0.316326531 ENSG00000124299 chr19:33387420-33387420;G/A missense_variant False PER1@p.A1035T 1 0.25 ENSG00000179094 chr17:8142805-8142805;C/T missense_variant False PER1@p.E1107K 1 0.970588235 ENSG00000179094 chr17:8142399-8142399;C/T missense_variant False PER1@p.G1256S 1 0.272340426 ENSG00000179094 chr17:8141175-8141175;C/T missense_variant False PDZD2@p.Q611K 1 0.075757576 ENSG00000133401 chr5:32053814-32053814;C/A missense_variant False PDZD2@p.P58L 1 0.039156627 ENSG00000133401 chr5:31799421-31799421;C/T missense_variant False PDGFRA@p.E109D 1 0.422594142 ENSG00000134853 chr4:54261372-54261372;G/T missense_variant True PDIA5@p.N217K 1 0.11627907 ENSG00000065485 chr3:123124107-123124107;C/G missense_variant False PDIA6@p.S154N 1 0.19 ENSG00000143870 chr2:10791918-10791918;C/T missense_variant False PDIA6@p.L3F 1 0.235294118 ENSG00000143870 chr2:10812690-10812690;G/A missense_variant False PDIA6@p.E408Q 1 0.666666667 ENSG00000143870 chr2:10784966-10784966;C/G missense_variant False PDIA5@p.S294F 1 0.6 ENSG00000065485 chr3:123130587-123130587;C/T missense_variant False PDIA5@p.S23F 1 0.080645161 ENSG00000065485 chr3:123089193-123089193;C/T missense_variant False PDIA5@p.N360I 1 0.116022099 ENSG00000065485 chr3:123146196-123146196;A/T missense_variant False PDIA5@p.L369F 1 0.136842105 ENSG00000065485 chr3:123146222-123146222;C/T missense_variant False PDIA3@p.G113V 1 0.136363636 ENSG00000167004 chr15:43756740-43756740;G/T missense_variant False PDIA5@p.H307Y 1 0.5 ENSG00000065485 chr3:123145530-123145530;C/T missense_variant False PDIA5@p.E221K 1 0.241935484 ENSG00000065485 chr3:123124117-123124117;G/A missense_variant False PDIA4@p.Y596C 1 0.193548387 ENSG00000155660 chr7:149003948-149003948;T/C missense_variant False PDIA4@p.S496C 1 0.061797753 ENSG00000155660 chr7:149005179-149005179;G/C missense_variant False PDIA4@p.M279I 1 0.384615385 ENSG00000155660 chr7:149011988-149011988;C/G missense_variant False PDIA3@p.T212S 1 0.421052632 ENSG00000167004 chr15:43765482-43765482;C/G missense_variant False PDIA6@p.T290K 1 0.21875 ENSG00000143870 chr2:10788953-10788953;G/T missense_variant False PDIK1L@p.A199T 1 0.072463768 ENSG00000175087 chr1:26122146-26122146;G/A missense_variant False PDIK1L@p.F144L 1 0.230769231 ENSG00000175087 chr1:26121983-26121983;C/A missense_variant False PDILT@p.E559K 1 0.140776699 ENSG00000169340 chr16:20359399-20359399;C/T missense_variant False PDILT@p.F225L 1 0.893617021 ENSG00000169340 chr16:20374828-20374828;G/C missense_variant False PDILT@p.L148F 1 0.309090909 ENSG00000169340 chr16:20376167-20376167;C/G missense_variant False PDK1@p.E249K 1 0.317073171 ENSG00000152256 chr2:172566909-172566909;G/A missense_variant False PDK1@p.P401L 1 0.108843537 ENSG00000152256 chr2:172595860-172595860;C/T missense_variant False PDK2@p.E56Q 1 0.363636364 ENSG00000005882 chr17:50097470-50097470;G/C missense_variant False PDK2@p.I169M 1 0.4 ENSG00000005882 chr17:50106059-50106059;C/G missense_variant False PDK3@p.E17K 1 0.296296296 ENSG00000067992 chrX:24465504-24465504;G/A missense_variant False PDK4@p.I179T 1 0.228346457 ENSG00000004799 chr7:95592591-95592591;A/G missense_variant False PDLIM1@p.S130W 1 0.170731707 ENSG00000107438 chr10:95264008-95264008;G/C missense_variant False PDLIM1@p.S165L 1 0.372093023 ENSG00000107438 chr10:95263903-95263903;G/A missense_variant False PDLIM2@p.S171C 1 0.130434783 ENSG00000120913 chr8:22585371-22585371;C/G missense_variant False PDLIM3@p.D189N 1 0.345588235 ENSG00000154553 chr4:185502323-185502323;C/T missense_variant False PDLIM3@p.Q122H 1 0.180851064 ENSG00000154553 chr4:185504513-185504513;C/G missense_variant False PDIA3@p.H408R 1 0.136363636 ENSG00000167004 chr15:43769603-43769603;A/G missense_variant False PDIA3@p.E170Sfs*3 1 0.225 ENSG00000167004 chr15:43763110-43763110;C/- frameshift_variant False PDLIM5@p.R337T 1 0.211538462 ENSG00000163110 chr4:94618093-94618093;G/C missense_variant False PDGFRA@p.T474M 1 0.422764228 ENSG00000134853 chr4:54273593-54273593;C/T missense_variant True PDHA1@p.E133K 1 0.05952381 ENSG00000131828 chrX:19351386-19351386;G/A missense_variant False PDGFRL@p.Q127Pfs*54 1 0.216666667 ENSG00000104213 chr8:17621076-17621094;CAGTTGACTCTGGTCAACT/- frameshift_variant False PDGFRB@p.L87M 1 0.423728814 ENSG00000113721 chr5:150135660-150135660;G/T missense_variant False PDGFRB@p.E594G 1 0.484848485 ENSG00000113721 chr5:150125471-150125471;T/C missense_variant False PDGFRB@p.E490K 1 0.354166667 ENSG00000113721 chr5:150129868-150129868;C/T missense_variant False PDGFRA@p.V1084M 1 0.122222222 ENSG00000134853 chr4:54295252-54295252;G/A missense_variant True PDGFRA@p.S783L 1 0.378378378 ENSG00000134853 chr4:54285395-54285395;C/T missense_variant True PDIA3@p.A221V 1 0.393162393 ENSG00000167004 chr15:43765509-43765509;C/T missense_variant False PDGFRA@p.S1081L 1 0.248447205 ENSG00000134853 chr4:54295244-54295244;C/T missense_variant True PDGFRA@p.R522H 1 0.25 ENSG00000134853 chr4:54274537-54274537;G/A missense_variant True PDGFRA@p.R512Q 1 0.348837209 ENSG00000134853 chr4:54273707-54273707;G/A missense_variant True PDGFRA@p.G185R 1 0.456140351 ENSG00000134853 chr4:54263852-54263852;G/A missense_variant True PDGFRA@p.E675Q 1 0.385964912 ENSG00000134853 chr4:54278382-54278382;G/C missense_variant True PDGFRA@p.E338Q 1 0.533333333 ENSG00000134853 chr4:54267632-54267632;G/C missense_variant True PDHA1@p.E234K 1 0.642857143 ENSG00000131828 chrX:19355445-19355445;G/A missense_variant False PDHA1@p.S152L 1 0.202702703 ENSG00000131828 chrX:19353118-19353118;C/T missense_variant False SCRT1@p.K311N 1 0.36 ENSG00000261678 chr8:144333299-144333299;C/G missense_variant False PDHA2@p.A173V 1 0.121212121 ENSG00000163114 chr4:95840668-95840668;C/T missense_variant False PDHA2@p.G193E 1 0.393617021 ENSG00000163114 chr4:95840728-95840728;G/A missense_variant False PDHA2@p.M66K 1 0.168831169 ENSG00000163114 chr4:95840347-95840347;T/A missense_variant False PDHA2@p.R140K 1 0.308411215 ENSG00000163114 chr4:95840569-95840569;G/A missense_variant False PDHA2@p.R26S 1 0.285714286 ENSG00000163114 chr4:95840226-95840226;C/A missense_variant False PDHA2@p.R70S 1 0.164705882 ENSG00000163114 chr4:95840358-95840358;C/A missense_variant False PDHB@p.E201Q 1 0.078947368 ENSG00000168291 chr3:58430227-58430227;C/G missense_variant False PDHB@p.R324C 1 0.344262295 ENSG00000168291 chr3:58428144-58428144;G/A missense_variant False PDHX@p.H300Y 1 0.360655738 ENSG00000110435 chr11:34970220-34970220;C/T missense_variant False PDHX@p.I333M 1 0.178571429 ENSG00000110435 chr11:34978158-34978158;C/G missense_variant False PDHX@p.R464H 1 0.3 ENSG00000110435 chr11:34995057-34995057;G/A missense_variant False PDHX@p.S392C 1 0.31840796 ENSG00000110435 chr11:34984721-34984721;C/G missense_variant False PDIA2@p.E32Q 1 0.08 ENSG00000185615 chr16:283263-283263;G/C missense_variant False PDIA2@p.F262L 1 0.184210526 ENSG00000185615 chr16:285191-285191;C/G missense_variant False PDLIM4@p.E189Q 1 0.176470588 ENSG00000131435 chr5:132271361-132271361;G/C missense_variant False PDLIM5@p.T396P 1 0.430379747 ENSG00000163110 chr4:94640353-94640353;A/C missense_variant False PDZD2@p.L798F 1 0.3 ENSG00000133401 chr5:32061077-32061077;G/C missense_variant False PDSS2@p.R70S 1 0.150684932 ENSG00000164494 chr6:107459078-107459078;G/T missense_variant False PDXDC1@p.H725D 1 0.033557047 ENSG00000179889 chr16:15036081-15036081;C/G missense_variant False PDXDC1@p.D106N 1 0.056 ENSG00000179889 chr16:15004260-15004260;G/A missense_variant False PDX1@p.L185F 1 0.24 ENSG00000139515 chr13:27924404-27924404;G/C missense_variant False PDX1@p.E111K 1 0.5 ENSG00000139515 chr13:27920469-27920469;G/A missense_variant False PDSS2@p.Y227Sfs*2 1 0.3 ENSG00000164494 chr6:107245569-107245570;AT/- frameshift_variant False PDSS2@p.S360L 1 0.226666667 ENSG00000164494 chr6:107154740-107154740;G/A missense_variant False PDSS2@p.R12G 1 0.272727273 ENSG00000164494 chr6:107459252-107459252;G/C missense_variant False PDSS1@p.E345K 1 0.142857143 ENSG00000148459 chr10:26742503-26742503;G/A missense_variant False PDSS2@p.M289I 1 0.037667072 ENSG00000164494 chr6:107212118-107212118;C/G missense_variant False PDSS2@p.K302I 1 0.517791411 ENSG00000164494 chr6:107210542-107210542;T/A missense_variant False PDSS1@p.S66Y 1 0.186915888 ENSG00000148459 chr10:26704711-26704711;C/A missense_variant False PDSS1@p.S279C 1 0.316666667 ENSG00000148459 chr10:26735244-26735244;C/G missense_variant False PDSS1@p.P82Q 1 0.102040816 ENSG00000148459 chr10:26705303-26705303;C/A missense_variant False PDSS1@p.L115H 1 0.184782609 ENSG00000148459 chr10:26709645-26709645;T/A missense_variant False PDXDC1@p.L178V 1 0.107142857 ENSG00000179889 chr16:15006536-15006536;C/G missense_variant False PDXDC1@p.L633V 1 0.224137931 ENSG00000179889 chr16:15034370-15034370;C/G missense_variant False PDXK@p.G68Afs*2 1 0.318181818 ENSG00000160209 chr21:43741726-43741726;G/- frameshift_variant False PDXP@p.G192Wfs*47 1 0.142857143 ENSG00000241360 chr22:37659350-37659351;-/C frameshift_variant False PDYN@p.E107Q 1 0.173913043 ENSG00000101327 chr20:1980769-1980769;C/G missense_variant False PDYN@p.S17Y 1 0.777777778 ENSG00000101327 chr20:1983035-1983035;G/T missense_variant False PDZD11@p.R46P 1 0.375 ENSG00000120509 chrX:70288464-70288464;C/G missense_variant False PDZD2@p.A766D 1 0.287878788 ENSG00000133401 chr5:32059335-32059335;C/A missense_variant False PDZD2@p.D1554N 1 0.4 ENSG00000133401 chr5:32088108-32088108;G/A missense_variant False PDZD2@p.D1740N 1 0.306748466 ENSG00000133401 chr5:32088666-32088666;G/A missense_variant False PDZD2@p.D287H 1 0.322916667 ENSG00000133401 chr5:31983537-31983537;G/C missense_variant False PDZD2@p.E163Q 1 0.221052632 ENSG00000133401 chr5:31983165-31983165;G/C missense_variant False PDZD2@p.E1640Q 1 0.217741935 ENSG00000133401 chr5:32088366-32088366;G/C missense_variant False PDZD2@p.E2025Q 1 0.064285714 ENSG00000133401 chr5:32089521-32089521;G/C missense_variant False PDZD2@p.E2484K 1 0.063829787 ENSG00000133401 chr5:32090898-32090898;G/A missense_variant False PDZD2@p.E825G 1 0.1 ENSG00000133401 chr5:32069591-32069591;A/G missense_variant False PDZD2@p.I2607T 1 0.273972603 ENSG00000133401 chr5:32092999-32092999;T/C missense_variant False PDSS1@p.H152Y 1 0.194805195 ENSG00000148459 chr10:26709755-26709755;C/T missense_variant False PDSS1@p.A257P 1 0.267857143 ENSG00000148459 chr10:26724061-26724061;G/C missense_variant False PDLIM7@p.E436Q 1 0.171428571 ENSG00000196923 chr5:177483712-177483712;C/G missense_variant False PDPK1@p.P489S 1 0.641791045 ENSG00000140992 chr16:2597186-2597186;C/T missense_variant False PDS5A@p.E31Q 1 0.136986301 ENSG00000121892 chr4:39976487-39976487;C/G missense_variant False PDS5A@p.E1163K 1 0.137254902 ENSG00000121892 chr4:39844717-39844717;C/T missense_variant False PDS5A@p.A1054T 1 0.413793103 ENSG00000121892 chr4:39849579-39849579;C/T missense_variant False PDPN@p.S62A 1 0.376811594 ENSG00000162493 chr1:13607289-13607289;T/G missense_variant False PDPN@p.D31V 1 0.392156863 ENSG00000162493 chr1:13607197-13607197;A/T missense_variant False PDPK1@p.P551A 1 0.259259259 ENSG00000140992 chr16:2597747-2597747;C/G missense_variant False PDP2@p.M173I 1 0.333333333 ENSG00000172840 chr16:66884803-66884803;G/A missense_variant False PDS5B@p.V818L 1 0.116883117 ENSG00000083642 chr13:32741125-32741125;G/C missense_variant False PDP2@p.E171Q 1 0.492063492 ENSG00000172840 chr16:66884795-66884795;G/C missense_variant False PDP1@p.R70T 1 0.104 ENSG00000164951 chr8:93922268-93922268;G/C missense_variant False PDP1@p.R184W 1 0.360465116 ENSG00000164951 chr8:93922609-93922609;C/T missense_variant False PDP1@p.Q457H 1 0.12849162 ENSG00000164951 chr8:93923430-93923430;G/C missense_variant False PDP1@p.N115D 1 0.265060241 ENSG00000164951 chr8:93922402-93922402;A/G missense_variant False PDLIM7@p.R158Q 1 0.375 ENSG00000196923 chr5:177491072-177491072;C/T missense_variant False PDS5A@p.F758Lfs*8 1 0.192307692 ENSG00000121892 chr4:39874292-39874292;A/- frameshift_variant False PDS5A@p.K1052N 1 0.568181818 ENSG00000121892 chr4:39849583-39849583;C/G missense_variant False PDS5A@p.K1315N 1 0.109375 ENSG00000121892 chr4:39837921-39837921;T/A missense_variant False PDS5A@p.V1241I 1 0.413793103 ENSG00000121892 chr4:39838145-39838145;C/T missense_variant False PDS5B@p.E821Q 1 0.194805195 ENSG00000083642 chr13:32741134-32741134;G/C missense_variant False PDS5B@p.E892K 1 0.365853659 ENSG00000083642 chr13:32746038-32746038;G/A missense_variant False PDS5B@p.E897K 1 0.5625 ENSG00000083642 chr13:32746053-32746053;G/A missense_variant False PDS5B@p.E953G 1 0.176470588 ENSG00000083642 chr13:32753453-32753453;A/G missense_variant False PDS5B@p.H207Y 1 0.42 ENSG00000083642 chr13:32659275-32659275;C/T missense_variant False PDS5B@p.I13N 1 0.274193548 ENSG00000083642 chr13:32648810-32648810;T/A missense_variant False PDS5B@p.I691Ffs*65 1 0.40625 ENSG00000083642 chr13:32710052-32710052;A/- frameshift_variant False PDS5B@p.N467T 1 0.277227723 ENSG00000083642 chr13:32688500-32688500;A/C missense_variant False PDS5B@p.P804T 1 0.090909091 ENSG00000083642 chr13:32741083-32741083;C/A missense_variant False PDS5B@p.Q499E 1 0.070866142 ENSG00000083642 chr13:32694248-32694248;C/G missense_variant False PDS5B@p.Q917E 1 0.512605042 ENSG00000083642 chr13:32753344-32753344;C/G missense_variant False PDS5B@p.R1440Q 1 0.46031746 ENSG00000083642 chr13:32775027-32775027;G/A missense_variant False PDS5B@p.T1427A 1 0.419753086 ENSG00000083642 chr13:32773295-32773295;A/G missense_variant False PCNX1@p.E1886K 1 0.092105263 ENSG00000100731 chr14:71102056-71102056;G/A missense_variant False PCNX1@p.E1816Q 1 0.15 ENSG00000100731 chr14:71089199-71089199;G/C missense_variant False PCDHA12@p.G27W 1 0.174603175 ENSG00000251664 chr5:140875551-140875551;G/T missense_variant False PCDHB16@p.P252L 1 0.4 ENSG00000272674 chr5:141183314-141183314;C/T missense_variant False PCDHB1@p.P796T 1 0.25 ENSG00000171815 chr5:141053856-141053856;C/A missense_variant False PCDHB1@p.L18F 1 0.185714286 ENSG00000171815 chr5:141051522-141051522;C/T missense_variant False PCDHB16@p.S455Y 1 0.365591398 ENSG00000272674 chr5:141183923-141183923;C/A missense_variant False PCDHB16@p.S384F 1 0.417721519 ENSG00000272674 chr5:141183710-141183710;C/T missense_variant False PCDHB16@p.Q598H 1 0.689393939 ENSG00000272674 chr5:141184353-141184353;G/C missense_variant False PCDHB16@p.Q250H 1 0.087719298 ENSG00000272674 chr5:141183309-141183309;G/T missense_variant False PCDHB16@p.L503M 1 0.133333333 ENSG00000272674 chr5:141184066-141184066;C/A missense_variant False PCDHB1@p.Q526R 1 0.226415094 ENSG00000171815 chr5:141053047-141053047;A/G missense_variant False PCDHB16@p.L269S 1 0.507246377 ENSG00000272674 chr5:141183365-141183365;T/C missense_variant False PCDHB16@p.K78Q 1 0.074074074 ENSG00000272674 chr5:141182791-141182791;A/C missense_variant False PCDHB16@p.E574K 1 0.244897959 ENSG00000272674 chr5:141184279-141184279;G/A missense_variant False PCDHB16@p.A570V 1 0.51758794 ENSG00000272674 chr5:141184268-141184268;C/T missense_variant False PCDHB15@p.R530C 1 0.286956522 ENSG00000113248 chr5:141247166-141247166;C/T missense_variant False PCDHB15@p.R478T 1 0.05 ENSG00000113248 chr5:141247011-141247011;G/C missense_variant False PCDHB1@p.Q363H 1 0.384615385 ENSG00000171815 chr5:141052559-141052559;G/C missense_variant False PCDHB1@p.Q805E 1 0.322580645 ENSG00000171815 chr5:141053883-141053883;C/G missense_variant False PCNX1@p.E1252Q 1 0.298245614 ENSG00000100731 chr14:71034016-71034016;G/C missense_variant False PCDHB3@p.A450T 1 0.449122807 ENSG00000113205 chr5:141101997-141101997;G/A missense_variant False PCDHB3@p.S596L 1 0.363636364 ENSG00000113205 chr5:141102436-141102436;C/T missense_variant False PCDHB3@p.R718S 1 0.487804878 ENSG00000113205 chr5:141102803-141102803;G/T missense_variant False PCDHB3@p.R633H 1 0.337837838 ENSG00000113205 chr5:141102547-141102547;G/A missense_variant False PCDHB3@p.N119K 1 0.642276423 ENSG00000113205 chr5:141101006-141101006;C/G missense_variant False PCDHB3@p.E784K 1 0.332446809 ENSG00000113205 chr5:141102999-141102999;G/A missense_variant False PCDHB3@p.A64D 1 0.520833333 ENSG00000113205 chr5:141100840-141100840;C/A missense_variant False PCDHB3@p.A408V 1 0.150537634 ENSG00000113205 chr5:141101872-141101872;C/T missense_variant False PCDHB1@p.R769G 1 0.31 ENSG00000171815 chr5:141053775-141053775;C/G missense_variant False PCDHB2@p.S297R 1 0.076923077 ENSG00000112852 chr5:141095681-141095681;T/G missense_variant False PCDHB2@p.Q307R 1 0.11627907 ENSG00000112852 chr5:141095710-141095710;A/G missense_variant False PCDHB2@p.E786K 1 0.367088608 ENSG00000112852 chr5:141097146-141097146;G/A missense_variant False PCDHB2@p.E205K 1 0.342105263 ENSG00000112852 chr5:141095403-141095403;G/A missense_variant False PCDHB1@p.T171N 1 0.145833333 ENSG00000171815 chr5:141051982-141051982;C/A missense_variant False PCDHB1@p.S750C 1 0.459459459 ENSG00000171815 chr5:141053719-141053719;C/G missense_variant False PCDHB15@p.R185P 1 0.318181818 ENSG00000113248 chr5:141246132-141246132;G/C missense_variant False PCDHB15@p.K190E 1 0.074626866 ENSG00000113248 chr5:141246146-141246146;A/G missense_variant False PCDHB15@p.E544K 1 0.27027027 ENSG00000113248 chr5:141247208-141247208;G/A missense_variant False PCDHB12@p.P582L 1 0.232142857 ENSG00000120328 chr5:141210652-141210652;C/T missense_variant False PCDHB13@p.M350I 1 0.598425197 ENSG00000187372 chr5:141215173-141215173;G/A missense_variant False PCDHB13@p.E169K 1 0.396226415 ENSG00000187372 chr5:141214628-141214628;G/A missense_variant False PCDHB13@p.A450T 1 0.210526316 ENSG00000187372 chr5:141215471-141215471;G/A missense_variant False PCDHB12@p.V486F 1 0.356435644 ENSG00000120328 chr5:141210363-141210363;G/T missense_variant False PCDHB12@p.S489T 1 0.147540984 ENSG00000120328 chr5:141210372-141210372;T/A missense_variant False PCDHB12@p.S396L 1 0.441558442 ENSG00000120328 chr5:141210094-141210094;C/T missense_variant False PCDHB12@p.I312Mfs*6 1 0.3 ENSG00000120328 chr5:141209842-141209842;T/- frameshift_variant False PCDHB15@p.E544G 1 0.3125 ENSG00000113248 chr5:141247209-141247209;A/G missense_variant False PCDHB12@p.H283N 1 0.256637168 ENSG00000120328 chr5:141209754-141209754;C/A missense_variant False PCDHB12@p.E462K 1 0.14556962 ENSG00000120328 chr5:141210291-141210291;G/A missense_variant False PCDHB12@p.D197E 1 0.559322034 ENSG00000120328 chr5:141209498-141209498;C/G missense_variant False PCDHB12@p.A570V 1 0.466165414 ENSG00000120328 chr5:141210616-141210616;C/T missense_variant False PCDHB12@p.A533T 1 0.346153846 ENSG00000120328 chr5:141210504-141210504;G/A missense_variant False PCDHB11@p.T761A 1 0.335820896 ENSG00000197479 chr5:141202055-141202055;A/G missense_variant False PCDHB13@p.P776S 1 0.172043011 ENSG00000187372 chr5:141216449-141216449;C/T missense_variant False PCDHB13@p.R184H 1 0.469135802 ENSG00000187372 chr5:141214674-141214674;G/A missense_variant False PCDHB13@p.S787C 1 0.157894737 ENSG00000187372 chr5:141216483-141216483;C/G missense_variant False PCDHB13@p.V688I 1 0.341549296 ENSG00000187372 chr5:141216185-141216185;G/A missense_variant False PCDHB14@p.D323N 1 0.072 ENSG00000120327 chr5:141224472-141224472;G/A missense_variant False PCDHB14@p.E120G 1 0.24 ENSG00000120327 chr5:141223864-141223864;A/G missense_variant False PCDHB14@p.E358Q 1 0.103448276 ENSG00000120327 chr5:141224577-141224577;G/C missense_variant False PCDHB14@p.E649K 1 0.230769231 ENSG00000120327 chr5:141225450-141225450;G/A missense_variant False PCDHB14@p.E752K 1 0.204545455 ENSG00000120327 chr5:141225759-141225759;G/A missense_variant False PCDHB14@p.G299R 1 0.383333333 ENSG00000120327 chr5:141224400-141224400;G/A missense_variant False PCDHB14@p.G325V 1 0.15 ENSG00000120327 chr5:141224479-141224479;G/T missense_variant False PCDHB14@p.G481D 1 0.311643836 ENSG00000120327 chr5:141224947-141224947;G/A missense_variant False PCDHB14@p.Q373E 1 0.439393939 ENSG00000120327 chr5:141224622-141224622;C/G missense_variant False PCDHB14@p.R4K 1 0.246575342 ENSG00000120327 chr5:141223516-141223516;G/A missense_variant False PCDHB14@p.S219Y 1 0.575 ENSG00000120327 chr5:141224161-141224161;C/A missense_variant False PCDHB15@p.E135K 1 0.222826087 ENSG00000113248 chr5:141245981-141245981;G/A missense_variant False PCDHB15@p.E434Q 1 0.746031746 ENSG00000113248 chr5:141246878-141246878;G/C missense_variant False PCDHB4@p.A414T 1 0.423529412 ENSG00000081818 chr5:141123238-141123238;G/A missense_variant False PCDHB4@p.A466T 1 0.275590551 ENSG00000081818 chr5:141123394-141123394;G/A missense_variant False PCDHB4@p.D371H 1 0.051282051 ENSG00000081818 chr5:141123109-141123109;G/C missense_variant False PCDHB8@p.E38Q 1 0.100591716 ENSG00000120322 chr5:141178146-141178146;G/C missense_variant False PCDHB8@p.V318F 1 0.186813187 ENSG00000120322 chr5:141178986-141178986;G/T missense_variant False PCDHB8@p.S481L 1 0.467391304 ENSG00000120322 chr5:141179476-141179476;C/T missense_variant False PCDHB8@p.S253Y 1 0.164102564 ENSG00000120322 chr5:141178792-141178792;C/A missense_variant False PCDHB8@p.R634C 1 0.28358209 ENSG00000120322 chr5:141179934-141179934;C/T missense_variant False PCDHB8@p.R531Q 1 0.153846154 ENSG00000120322 chr5:141179626-141179626;G/A missense_variant False PCDHB8@p.E730Q 1 0.052941176 ENSG00000120322 chr5:141180222-141180222;G/C missense_variant False PCDHB8@p.E145K 1 0.152974504 ENSG00000120322 chr5:141178467-141178467;G/A missense_variant False PCDHB7@p.F666S 1 0.172727273 ENSG00000113212 chr5:141174832-141174832;T/C missense_variant False PCDHB8@p.D271H 1 0.206349206 ENSG00000120322 chr5:141178845-141178845;G/C missense_variant False PCDHB7@p.S697L 1 0.077894737 ENSG00000113212 chr5:141174925-141174925;C/T missense_variant False PCDHB7@p.P499H 1 0.552036199 ENSG00000113212 chr5:141174331-141174331;C/A missense_variant False PCDHB7@p.L576F 1 0.502702703 ENSG00000113212 chr5:141174563-141174563;G/T missense_variant False PCDHB7@p.L301F 1 0.862745098 ENSG00000113212 chr5:141173736-141173736;C/T missense_variant False PCDHB7@p.I769M 1 0.060606061 ENSG00000113212 chr5:141175142-141175142;C/G missense_variant False PCDHB9@p.A357V 1 0.412371134 ENSG00000177839 chr5:141188388-141188388;C/T missense_variant False PCDHB9@p.A579V 1 0.088235294 ENSG00000177839 chr5:141189054-141189054;C/T missense_variant False PCDHB9@p.E207K 1 0.525925926 ENSG00000177839 chr5:141187937-141187937;G/A missense_variant False PCDHB9@p.E632K 1 0.230769231 ENSG00000177839 chr5:141189212-141189212;G/A missense_variant False PCDHB9@p.E752K 1 0.282894737 ENSG00000177839 chr5:141189572-141189572;G/A missense_variant False PCDHB9@p.G537S 1 0.283236994 ENSG00000177839 chr5:141188927-141188927;G/A missense_variant False PCDHB9@p.H777Y 1 0.316091954 ENSG00000177839 chr5:141189647-141189647;C/T missense_variant False PCDHB9@p.Q244K 1 0.486486486 ENSG00000177839 chr5:141188048-141188048;C/A missense_variant False PCDHB9@p.V423I 1 0.313432836 ENSG00000177839 chr5:141188585-141188585;G/A missense_variant False PCDHGA10@p.E201Q 1 0.234567901 ENSG00000253846 chr5:141413776-141413776;G/C missense_variant False PCDHGA10@p.E527K 1 0.067357513 ENSG00000253846 chr5:141414754-141414754;G/A missense_variant False PCDHGA10@p.E760K 1 0.338308458 ENSG00000253846 chr5:141415453-141415453;G/A missense_variant False PCDHGA10@p.G92C 1 0.5 ENSG00000253846 chr5:141413449-141413449;G/T missense_variant False PCDHGA10@p.P40S 1 0.468965517 ENSG00000253846 chr5:141413293-141413293;C/T missense_variant False PCDHGA10@p.P483Q 1 0.456 ENSG00000253846 chr5:141414623-141414623;C/A missense_variant False PCDHGA10@p.V550M 1 0.387387387 ENSG00000253846 chr5:141414823-141414823;G/A missense_variant False PCDHGA11@p.E291K 1 0.297297297 ENSG00000253873 chr5:141422098-141422098;G/A missense_variant False PCDHB7@p.I190V 1 0.206521739 ENSG00000113212 chr5:141173403-141173403;A/G missense_variant False PCDHB7@p.E675Q 1 0.123809524 ENSG00000113212 chr5:141174858-141174858;G/C missense_variant False PCDHB4@p.E527K 1 0.26875 ENSG00000081818 chr5:141123577-141123577;G/A missense_variant False PCDHB5@p.A553T 1 0.296703297 ENSG00000113209 chr5:141137091-141137091;G/A missense_variant False PCDHB5@p.F106C 1 0.591549296 ENSG00000113209 chr5:141135751-141135751;T/G missense_variant False PCDHB5@p.E728K 1 0.213953488 ENSG00000113209 chr5:141137616-141137616;G/A missense_variant False PCDHB5@p.E299K 1 0.099378882 ENSG00000113209 chr5:141136329-141136329;G/A missense_variant False PCDHB5@p.D91H 1 0.480769231 ENSG00000113209 chr5:141135705-141135705;G/C missense_variant False PCDHB5@p.D338V 1 0.142857143 ENSG00000113209 chr5:141136447-141136447;A/T missense_variant False PCDHB5@p.D187H 1 0.119402985 ENSG00000113209 chr5:141135993-141135993;G/C missense_variant False PCDHB5@p.A525E 1 0.419354839 ENSG00000113209 chr5:141137008-141137008;C/A missense_variant False PCDHB7@p.E434K 1 0.258064516 ENSG00000113212 chr5:141174135-141174135;G/A missense_variant False PCDHB4@p.S42C 1 0.210526316 ENSG00000081818 chr5:141122123-141122123;C/G missense_variant False PCDHB4@p.S40R 1 0.306122449 ENSG00000081818 chr5:141122118-141122118;C/A missense_variant False PCDHB4@p.R460H 1 0.38172043 ENSG00000081818 chr5:141123377-141123377;G/A missense_variant False PCDHB4@p.R368Q 1 0.454545455 ENSG00000081818 chr5:141123101-141123101;G/A missense_variant False PCDHB4@p.P147A 1 0.315789474 ENSG00000081818 chr5:141122437-141122437;C/G missense_variant False PCDHB4@p.E674K 1 0.350364964 ENSG00000081818 chr5:141124018-141124018;G/A missense_variant False PCDHB5@p.L408V 1 0.231404959 ENSG00000113209 chr5:141136656-141136656;C/G missense_variant False PCDHB5@p.L499F 1 0.098039216 ENSG00000113209 chr5:141136929-141136929;C/T missense_variant False PCDHB5@p.P394L 1 0.137931034 ENSG00000113209 chr5:141136615-141136615;C/T missense_variant False PCDHB5@p.R62W 1 0.089285714 ENSG00000113209 chr5:141135618-141135618;C/T missense_variant False PCDHB5@p.S441C 1 0.336956522 ENSG00000113209 chr5:141136756-141136756;C/G missense_variant False PCDHB5@p.Y688H 1 0.252173913 ENSG00000113209 chr5:141137496-141137496;T/C missense_variant False PCDHB6@p.D284H 1 0.482142857 ENSG00000113211 chr5:141151107-141151107;G/C missense_variant False PCDHB6@p.E192Q 1 0.403669725 ENSG00000113211 chr5:141150831-141150831;G/C missense_variant False PCDHB6@p.E542K 1 0.442307692 ENSG00000113211 chr5:141151881-141151881;G/A missense_variant False PCDHB6@p.E727Q 1 0.298076923 ENSG00000113211 chr5:141152436-141152436;G/C missense_variant False PCDHB6@p.H618R 1 0.292307692 ENSG00000113211 chr5:141152110-141152110;A/G missense_variant False PCDHB6@p.R409K 1 0.485714286 ENSG00000113211 chr5:141151483-141151483;G/A missense_variant False PCDHB6@p.S556W 1 0.278688525 ENSG00000113211 chr5:141151924-141151924;C/G missense_variant False PCDHB6@p.V286I 1 0.163265306 ENSG00000113211 chr5:141151113-141151113;G/A missense_variant False PCDHB7@p.A579V 1 0.090909091 ENSG00000113212 chr5:141174571-141174571;C/T missense_variant False PCDHB7@p.A656T 1 0.222222222 ENSG00000113212 chr5:141174801-141174801;G/A missense_variant False PCDHB7@p.E253K 1 0.263736264 ENSG00000113212 chr5:141173592-141173592;G/A missense_variant False PCDHB11@p.T332K 1 0.282828283 ENSG00000197479 chr5:141200769-141200769;C/A missense_variant False PCDHB11@p.S442C 1 0.15282392 ENSG00000197479 chr5:141201099-141201099;C/G missense_variant False PCDHB11@p.S134L 1 0.216748768 ENSG00000197479 chr5:141200175-141200175;C/T missense_variant False PCDHA3@p.D237N 1 0.555555556 ENSG00000255408 chr5:140801906-140801906;G/A missense_variant False PCDHA4@p.D201N 1 0.180327869 ENSG00000204967 chr5:140807788-140807788;G/A missense_variant False PCDHA4@p.A488T 1 0.222222222 ENSG00000204967 chr5:140808649-140808649;G/A missense_variant False PCDHA4@p.A22T 1 0.25 ENSG00000204967 chr5:140807251-140807251;G/A missense_variant False PCDHA3@p.R92G 1 0.512195122 ENSG00000255408 chr5:140801471-140801471;C/G missense_variant False PCDHA3@p.H71Q 1 0.148741419 ENSG00000255408 chr5:140801410-140801410;C/A missense_variant False PCDHA3@p.D450N 1 0.4 ENSG00000255408 chr5:140802545-140802545;G/A missense_variant False PCDHA3@p.A512V 1 0.246753247 ENSG00000255408 chr5:140802732-140802732;C/T missense_variant False PCDHA2@p.P621S 1 0.2375 ENSG00000204969 chr5:140796825-140796825;C/T missense_variant False PCDHA3@p.A503T 1 0.232323232 ENSG00000255408 chr5:140802704-140802704;G/A missense_variant False PCDHA2@p.Y170H 1 0.10989011 ENSG00000204969 chr5:140795472-140795472;T/C missense_variant False PCDHA2@p.V649M 1 0.172413793 ENSG00000204969 chr5:140796909-140796909;G/A missense_variant False PCDHA2@p.V195M 1 0.4375 ENSG00000204969 chr5:140795547-140795547;G/A missense_variant False PCDHA2@p.R92W 1 0.541237113 ENSG00000204969 chr5:140795238-140795238;C/T missense_variant False PCDHA2@p.R47G 1 0.297297297 ENSG00000204969 chr5:140795103-140795103;C/G missense_variant False PCDHA4@p.F44L 1 0.344827586 ENSG00000204967 chr5:140807319-140807319;C/A missense_variant False PCDHA4@p.I142M 1 0.309178744 ENSG00000204967 chr5:140807613-140807613;C/G missense_variant False PCDHA4@p.R623C 1 0.275 ENSG00000204967 chr5:140809054-140809054;C/T missense_variant False PCDHA5@p.D652N 1 0.154639175 ENSG00000204965 chr5:140823729-140823729;G/A missense_variant False PCDHA5@p.E415K 1 0.103448276 ENSG00000204965 chr5:140823018-140823018;G/A missense_variant False PCDHA5@p.G430C 1 0.131578947 ENSG00000204965 chr5:140823063-140823063;G/T missense_variant False PCDHA5@p.R479W 1 0.428571429 ENSG00000204965 chr5:140823210-140823210;C/T missense_variant False PCDHA5@p.R91Q 1 0.05704698 ENSG00000204965 chr5:140822047-140822047;G/A missense_variant False PCDHA5@p.V463M 1 0.230769231 ENSG00000204965 chr5:140823162-140823162;G/A missense_variant False PCDHA6@p.A351S 1 0.394285714 ENSG00000081842 chr5:140829142-140829142;G/T missense_variant False PCDHA6@p.E253K 1 0.387387387 ENSG00000081842 chr5:140828848-140828848;G/A missense_variant False PCDHA6@p.G82S 1 0.081967213 ENSG00000081842 chr5:140828335-140828335;G/A missense_variant False PCDHA6@p.P774S 1 0.319672131 ENSG00000081842 chr5:140830411-140830411;C/T missense_variant False PCDHA6@p.R497W 1 0.123076923 ENSG00000081842 chr5:140829580-140829580;C/T missense_variant False PCDHA6@p.R619H 1 0.716312057 ENSG00000081842 chr5:140829947-140829947;G/A missense_variant False PCDHA6@p.R623C 1 0.459016393 ENSG00000081842 chr5:140829958-140829958;C/T missense_variant False PCDHA6@p.S186N 1 0.377777778 ENSG00000081842 chr5:140828648-140828648;G/A missense_variant False PCDHA2@p.Q756H 1 0.10483871 ENSG00000204969 chr5:140797232-140797232;G/T missense_variant False PCDHA2@p.L659W 1 0.098360656 ENSG00000204969 chr5:140796940-140796940;T/G missense_variant False PCDHA6@p.S642C 1 0.381818182 ENSG00000081842 chr5:140830016-140830016;C/G missense_variant False PCDHA12@p.V448M 1 0.12195122 ENSG00000251664 chr5:140876814-140876814;G/A missense_variant False PCDHA13@p.D159N 1 0.511627907 ENSG00000239389 chr5:140882743-140882743;G/A missense_variant False PCDHA13@p.A519S 1 0.246666667 ENSG00000239389 chr5:140883823-140883823;G/T missense_variant False PCDHA13@p.A503E 1 0.205128205 ENSG00000239389 chr5:140883776-140883776;C/A missense_variant False PCDHA13@p.A456T 1 0.204878049 ENSG00000239389 chr5:140883634-140883634;G/A missense_variant False PCDHA12@p.V542L 1 0.372093023 ENSG00000251664 chr5:140877096-140877096;G/T missense_variant False PCDHA12@p.V464M 1 0.487437186 ENSG00000251664 chr5:140876862-140876862;G/A missense_variant False PCDHA12@p.R595C 1 0.226415094 ENSG00000251664 chr5:140877255-140877255;C/T missense_variant False PCDHA2@p.I289T 1 0.266055046 ENSG00000204969 chr5:140795830-140795830;T/C missense_variant False PCDHA12@p.R497Q 1 0.06741573 ENSG00000251664 chr5:140876962-140876962;G/A missense_variant False PCDHA12@p.P192Lfs*3 1 0.333333333 ENSG00000251664 chr5:140876046-140876046;C/- frameshift_variant False PCDHA12@p.L154V 1 0.125 ENSG00000251664 chr5:140875932-140875932;C/G missense_variant False PCDHA12@p.I620F 1 0.411764706 ENSG00000251664 chr5:140877330-140877330;A/T missense_variant False PCDHA12@p.H623R 1 0.538461538 ENSG00000251664 chr5:140877340-140877340;A/G missense_variant False PCDHA12@p.G625V 1 0.381578947 ENSG00000251664 chr5:140877346-140877346;G/T missense_variant False PCDHA13@p.G332S 1 0.317757009 ENSG00000239389 chr5:140883262-140883262;G/A missense_variant False PCDHA13@p.G72W 1 0.26446281 ENSG00000239389 chr5:140882482-140882482;G/T missense_variant False PCDHA13@p.P269R 1 0.419354839 ENSG00000239389 chr5:140883074-140883074;C/G missense_variant False PCDHA13@p.P543S 1 0.41 ENSG00000239389 chr5:140883895-140883895;C/T missense_variant False PCDHA13@p.R428Gfs*21 1 0.519313305 ENSG00000239389 chr5:140883550-140883550;C/- frameshift_variant False PCDHA13@p.R635C 1 0.446808511 ENSG00000239389 chr5:140884171-140884171;C/T missense_variant False PCDHA1@p.A482V 1 0.060606061 ENSG00000204970 chr5:140787735-140787735;C/T missense_variant False PCDHA1@p.D111N 1 0.52238806 ENSG00000204970 chr5:140786621-140786621;G/A missense_variant False PCDHA1@p.E101K 1 0.268041237 ENSG00000204970 chr5:140786591-140786591;G/A missense_variant False PCDHA1@p.G575S 1 0.682432432 ENSG00000204970 chr5:140788013-140788013;G/A missense_variant False PCDHA1@p.H209Y 1 0.255319149 ENSG00000204970 chr5:140786915-140786915;C/T missense_variant False PCDHA1@p.P568S 1 0.043478261 ENSG00000204970 chr5:140787992-140787992;C/T missense_variant False PCDHA1@p.T550M 1 0.119815668 ENSG00000204970 chr5:140787939-140787939;C/T missense_variant False PCDHA1@p.V393I 1 0.140495868 ENSG00000204970 chr5:140787467-140787467;G/A missense_variant False PCDHA1@p.V555L 1 0.159292035 ENSG00000204970 chr5:140787953-140787953;G/T missense_variant False PCDHA2@p.A322T 1 0.24 ENSG00000204969 chr5:140795928-140795928;G/A missense_variant False PCDHA2@p.D410E 1 0.102702703 ENSG00000204969 chr5:140796194-140796194;C/A missense_variant False PCDHA6@p.S601L 1 0.206896552 ENSG00000081842 chr5:140829893-140829893;C/T missense_variant False PCDHA7@p.A100T 1 0.217391304 ENSG00000204963 chr5:140834681-140834681;G/A missense_variant False PCDHB11@p.G741D 1 0.472324723 ENSG00000197479 chr5:141201996-141201996;G/A missense_variant False PCDHAC1@p.S678F 1 0.394495413 ENSG00000248383 chr5:140928925-140928925;C/T missense_variant False PCDHAC2@p.S254C 1 0.257425743 ENSG00000243232 chr5:140967527-140967527;C/G missense_variant False PCDHAC2@p.Q183H 1 0.517241379 ENSG00000243232 chr5:140967315-140967315;G/T missense_variant False PCDHAC2@p.A281P 1 0.2 ENSG00000243232 chr5:140967607-140967607;G/C missense_variant False PCDHAC1@p.Y65C 1 0.711111111 ENSG00000248383 chr5:140927086-140927086;A/G missense_variant False PCDHAC1@p.W671R 1 0.193353474 ENSG00000248383 chr5:140928903-140928903;T/C missense_variant False PCDHAC1@p.S906F 1 0.291666667 ENSG00000248383 chr5:141009762-141009762;C/T missense_variant False PCDHAC1@p.S493L 1 0.65648855 ENSG00000248383 chr5:140928370-140928370;C/T missense_variant False PCDHA9@p.S503A 1 0.165898618 ENSG00000204961 chr5:140850002-140850002;T/G missense_variant False PCDHAC1@p.Q920H 1 0.425287356 ENSG00000248383 chr5:141009805-141009805;A/C missense_variant False PCDHAC1@p.L755V 1 0.11827957 ENSG00000248383 chr5:140929155-140929155;C/G missense_variant False PCDHAC1@p.E748Q 1 0.192307692 ENSG00000248383 chr5:140929134-140929134;G/C missense_variant False PCDHAC1@p.E586K 1 0.205128205 ENSG00000248383 chr5:140928648-140928648;G/A missense_variant False PCDHA9@p.Y460H 1 0.223463687 ENSG00000204961 chr5:140849873-140849873;T/C missense_variant False PCDHA9@p.V510M 1 0.18705036 ENSG00000204961 chr5:140850023-140850023;G/A missense_variant False PCDHAC2@p.S329F 1 0.1 ENSG00000243232 chr5:140967752-140967752;C/T missense_variant False PCDHAC2@p.S388C 1 0.189655172 ENSG00000243232 chr5:140967928-140967928;A/T missense_variant False PCDHAC2@p.S801L 1 0.340909091 ENSG00000243232 chr5:140969168-140969168;C/T missense_variant False PCDHB10@p.A744Rfs*2 1 0.108108108 ENSG00000120324 chr5:141194776-141194777;-/G frameshift_variant False PCDHB10@p.D308H 1 0.2 ENSG00000120324 chr5:141193474-141193474;G/C missense_variant False PCDHB10@p.D664H 1 0.298013245 ENSG00000120324 chr5:141194542-141194542;G/C missense_variant False PCDHB10@p.E148K 1 0.386666667 ENSG00000120324 chr5:141192994-141192994;G/A missense_variant False PCDHB10@p.G736V 1 0.312820513 ENSG00000120324 chr5:141194759-141194759;G/T missense_variant False PCDHB10@p.I294M 1 0.141176471 ENSG00000120324 chr5:141193434-141193434;C/G missense_variant False PCDHB10@p.L303V 1 0.245454545 ENSG00000120324 chr5:141193459-141193459;C/G missense_variant False PCDHB10@p.M381I 1 0.236842105 ENSG00000120324 chr5:141193695-141193695;G/A missense_variant False PCDHB10@p.R414G 1 0.157894737 ENSG00000120324 chr5:141193792-141193792;A/G missense_variant False PCDHB10@p.S505F 1 0.5 ENSG00000120324 chr5:141194066-141194066;C/T missense_variant False PCDHB10@p.S706L 1 0.534090909 ENSG00000120324 chr5:141194669-141194669;C/T missense_variant False PCDHB11@p.A710V 1 0.236842105 ENSG00000197479 chr5:141201903-141201903;C/T missense_variant False PCDHB11@p.E94D 1 0.687898089 ENSG00000197479 chr5:141200056-141200056;G/T missense_variant False PCDHB11@p.G224A 1 0.4 ENSG00000197479 chr5:141200445-141200445;G/C missense_variant False PCDHA9@p.S777C 1 0.234693878 ENSG00000204961 chr5:140850825-140850825;C/G missense_variant False PCDHA9@p.S419F 1 0.243243243 ENSG00000204961 chr5:140849751-140849751;C/T missense_variant False PCDHA7@p.A143V 1 0.29787234 ENSG00000204963 chr5:140834811-140834811;C/T missense_variant False PCDHA7@p.Q137E 1 0.443478261 ENSG00000204963 chr5:140834792-140834792;C/G missense_variant False PCDHA8@p.N561Y 1 0.626168224 ENSG00000204962 chr5:140843002-140843002;A/T missense_variant False PCDHA8@p.D345H 1 0.227272727 ENSG00000204962 chr5:140842354-140842354;G/C missense_variant False PCDHA8@p.A439T 1 0.136363636 ENSG00000204962 chr5:140842636-140842636;G/A missense_variant False PCDHA7@p.R623C 1 0.444444444 ENSG00000204963 chr5:140836250-140836250;C/T missense_variant False PCDHA7@p.R428W 1 0.289156627 ENSG00000204963 chr5:140835665-140835665;C/T missense_variant False PCDHA7@p.Q80H 1 0.142180095 ENSG00000204963 chr5:140834623-140834623;G/T missense_variant False PCDHA7@p.G163R 1 0.451612903 ENSG00000204963 chr5:140834870-140834870;G/A missense_variant False PCDHA9@p.R498W 1 0.412087912 ENSG00000204961 chr5:140849987-140849987;C/T missense_variant False PCDHA7@p.F475L 1 0.461538462 ENSG00000204963 chr5:140835806-140835806;T/C missense_variant False PCDHA7@p.E111K 1 0.071428571 ENSG00000204963 chr5:140834714-140834714;G/A missense_variant False PCDHA7@p.D539N 1 0.286549708 ENSG00000204963 chr5:140835998-140835998;G/A missense_variant False PCDHA7@p.A731T 1 0.5 ENSG00000204963 chr5:140836574-140836574;G/A missense_variant False PCDHA7@p.A599V 1 0.20952381 ENSG00000204963 chr5:140836179-140836179;C/T missense_variant False PCDHA7@p.A452T 1 0.331288344 ENSG00000204963 chr5:140835737-140835737;G/A missense_variant False PCDHA8@p.P522L 1 0.411764706 ENSG00000204962 chr5:140842886-140842886;C/T missense_variant False PCDHA8@p.R569G 1 0.32231405 ENSG00000204962 chr5:140843026-140843026;C/G missense_variant False PCDHA8@p.S434L 1 0.5 ENSG00000204962 chr5:140842622-140842622;C/T missense_variant False PCDHA8@p.S503L 1 0.573033708 ENSG00000204962 chr5:140842829-140842829;C/T missense_variant False PCDHA8@p.S505W 1 0.592920354 ENSG00000204962 chr5:140842835-140842835;C/G missense_variant False PCDHA8@p.V261D 1 0.397260274 ENSG00000204962 chr5:140842103-140842103;T/A missense_variant False PCDHA8@p.V549M 1 0.057324841 ENSG00000204962 chr5:140842966-140842966;G/A missense_variant False PCDHA9@p.A682V 1 0.404255319 ENSG00000204961 chr5:140850540-140850540;C/T missense_variant False PCDHA9@p.D111N 1 0.112403101 ENSG00000204961 chr5:140848826-140848826;G/A missense_variant False PCDHA9@p.D557N 1 0.227642276 ENSG00000204961 chr5:140850164-140850164;G/A missense_variant False PCDHA9@p.E10Q 1 0.307692308 ENSG00000204961 chr5:140848523-140848523;G/C missense_variant False PCDHA9@p.I704M 1 0.5 ENSG00000204961 chr5:140850607-140850607;C/G missense_variant False PCDHA9@p.L545M 1 0.166666667 ENSG00000204961 chr5:140850128-140850128;C/A missense_variant False PCDHA9@p.P469L 1 0.286764706 ENSG00000204961 chr5:140849901-140849901;C/T missense_variant False PCDHA9@p.P470L 1 0.106796117 ENSG00000204961 chr5:140849904-140849904;C/T missense_variant False PCDHA9@p.Q137E 1 0.333333333 ENSG00000204961 chr5:140848904-140848904;C/G missense_variant False PCDHA9@p.R415C 1 0.209580838 ENSG00000204961 chr5:140849738-140849738;C/T missense_variant False PCDHGA11@p.R230C 1 0.375 ENSG00000253873 chr5:141421915-141421915;C/T missense_variant False PCDHGA11@p.R4Q 1 0.307692308 ENSG00000253873 chr5:141421238-141421238;G/A missense_variant False PCDHGA11@p.R70K 1 0.275362319 ENSG00000253873 chr5:141421436-141421436;G/A missense_variant False PCK1@p.A319T 1 0.36036036 ENSG00000124253 chr20:57563721-57563721;G/A missense_variant False PCK2@p.D206N 1 0.447368421 ENSG00000100889 chr14:24098630-24098630;G/A missense_variant False PCK1@p.V180I 1 0.12 ENSG00000124253 chr20:57562827-57562827;G/A missense_variant False PCK1@p.R68W 1 0.095890411 ENSG00000124253 chr20:57561613-57561613;C/T missense_variant False PCK1@p.G453A 1 0.253164557 ENSG00000124253 chr20:57565079-57565079;G/C missense_variant False PCK1@p.E52K 1 0.169491525 ENSG00000124253 chr20:57561565-57561565;G/A missense_variant False PCK1@p.D374H 1 0.25 ENSG00000124253 chr20:57564327-57564327;G/C missense_variant False PCIF1@p.S144F 1 0.268518519 ENSG00000100982 chr20:45940852-45940852;C/T missense_variant False PCIF1@p.E256K 1 0.278350515 ENSG00000100982 chr20:45943189-45943189;G/A missense_variant False PCIF1@p.R59C 1 0.142857143 ENSG00000100982 chr20:45939265-45939265;C/T missense_variant False PCIF1@p.R376Q 1 0.777777778 ENSG00000100982 chr20:45944989-45944989;G/A missense_variant False PCIF1@p.N183K 1 0.107526882 ENSG00000100982 chr20:45941083-45941083;T/A missense_variant False PCIF1@p.M421I 1 0.076923077 ENSG00000100982 chr20:45945805-45945805;G/C missense_variant False PCIF1@p.L288F 1 0.076923077 ENSG00000100982 chr20:45943380-45943380;C/T missense_variant False PCIF1@p.E4K 1 0.142857143 ENSG00000100982 chr20:45939009-45939009;G/A missense_variant False PCK2@p.E78K 1 0.301587302 ENSG00000100889 chr14:24097094-24097094;G/A missense_variant False PCLAF@p.F68L 1 0.576271186 ENSG00000166803 chr15:64376829-64376829;G/C missense_variant False PCLO@p.A3124Lfs*4 1 0.285714286 ENSG00000186472 chr7:82951218-82951218;C/- frameshift_variant False PCLO@p.A3545T 1 0.125 ENSG00000186472 chr7:82949955-82949955;C/T missense_variant False PCLO@p.D1678N 1 0.052083333 ENSG00000186472 chr7:82955921-82955921;C/T missense_variant False PCLO@p.D1810E 1 0.376 ENSG00000186472 chr7:82955523-82955523;G/T missense_variant False PCLO@p.D2287N 1 0.323308271 ENSG00000186472 chr7:82954094-82954094;C/T missense_variant False PCLO@p.D277N 1 0.333333333 ENSG00000186472 chr7:83155812-83155812;C/T missense_variant False PCLO@p.D3650N 1 0.219354839 ENSG00000186472 chr7:82949640-82949640;C/T missense_variant False PCLO@p.D4239N 1 0.133333333 ENSG00000186472 chr7:82915271-82915271;C/T missense_variant False PCLO@p.E1216K 1 0.181818182 ENSG00000186472 chr7:82966142-82966142;C/T missense_variant False PCLO@p.E1333D 1 0.298387097 ENSG00000186472 chr7:82965789-82965789;T/A missense_variant False PCLO@p.E1465Q 1 0.462686567 ENSG00000186472 chr7:82956560-82956560;C/G missense_variant False PCLO@p.E1632K 1 0.057377049 ENSG00000186472 chr7:82956059-82956059;C/T missense_variant False PCLO@p.E183K 1 0.5 ENSG00000186472 chr7:83156094-83156094;C/T missense_variant False PCLO@p.E2297Q 1 0.225165563 ENSG00000186472 chr7:82954064-82954064;C/G missense_variant False PCLO@p.E3189K 1 0.375 ENSG00000186472 chr7:82951023-82951023;C/T missense_variant False PCIF1@p.E499K 1 0.380952381 ENSG00000100982 chr20:45946266-45946266;G/A missense_variant False PCGF5@p.R223Q 1 0.492537313 ENSG00000180628 chr10:91271642-91271642;G/A missense_variant False PCLO@p.E3294Q 1 0.213414634 ENSG00000186472 chr7:82950708-82950708;C/G missense_variant False PCDHGC5@p.S479L 1 0.203208556 ENSG00000240764 chr5:141490676-141490676;C/T missense_variant False PCED1B@p.R332Q 1 0.172932331 ENSG00000179715 chr12:47236058-47236058;G/A missense_variant False PCED1A@p.R242H 1 0.520661157 ENSG00000132635 chr20:2838348-2838348;C/T missense_variant False PCED1A@p.N32T 1 0.542372881 ENSG00000132635 chr20:2839818-2839818;T/G missense_variant False PCED1A@p.G270D 1 0.430769231 ENSG00000132635 chr20:2838264-2838264;C/T missense_variant False PCDHGC5@p.V701F 1 0.414965986 ENSG00000240764 chr5:141491341-141491341;G/T missense_variant False PCDHGC5@p.S655L 1 0.219512195 ENSG00000240764 chr5:141491204-141491204;C/T missense_variant False PCDHGC5@p.D480H 1 0.440944882 ENSG00000240764 chr5:141490678-141490678;G/C missense_variant False PCGF2@p.E146Q 1 0.078431373 ENSG00000277258 chr17:38738585-38738585;C/G missense_variant False PCDHGC5@p.D428N 1 0.234463277 ENSG00000240764 chr5:141490522-141490522;G/A missense_variant False PCDHGC4@p.P147T 1 0.169014085 ENSG00000242419 chr5:141485612-141485612;C/A missense_variant False PCDHGC4@p.E197Rfs*16 1 0.132352941 ENSG00000242419 chr5:141485761-141485761;G/- frameshift_variant False PCDHGC4@p.E122Q 1 0.079207921 ENSG00000242419 chr5:141485537-141485537;G/C missense_variant False PCDHGC4@p.D764H 1 0.220338983 ENSG00000242419 chr5:141487463-141487463;G/C missense_variant False PCDHGC4@p.D557Y 1 0.310344828 ENSG00000242419 chr5:141486842-141486842;G/T missense_variant False PCF11@p.A526T 1 0.253731343 ENSG00000165494 chr11:83166473-83166473;G/A missense_variant False PCF11@p.A594V 1 0.333333333 ENSG00000165494 chr11:83166678-83166678;C/T missense_variant False PCF11@p.E1393Q 1 0.35 ENSG00000165494 chr11:83181863-83181863;G/C missense_variant False PCF11@p.E586K 1 0.571428571 ENSG00000165494 chr11:83166653-83166653;G/A missense_variant False PCF11@p.F92L 1 0.375 ENSG00000165494 chr11:83161410-83161410;T/G missense_variant False PCF11@p.H307D 1 0.588235294 ENSG00000165494 chr11:83165816-83165816;C/G missense_variant False PCF11@p.L408F 1 0.2 ENSG00000165494 chr11:83166119-83166119;C/T missense_variant False PCF11@p.N83K 1 0.333333333 ENSG00000165494 chr11:83161383-83161383;C/A missense_variant False PCF11@p.Q910E 1 0.216216216 ENSG00000165494 chr11:83169063-83169063;C/G missense_variant False PCF11@p.R565G 1 0.1875 ENSG00000165494 chr11:83166590-83166590;C/G missense_variant False PCF11@p.S524C 1 0.038674033 ENSG00000165494 chr11:83166468-83166468;C/G missense_variant False PCF11@p.V1510A 1 0.452830189 ENSG00000165494 chr11:83184755-83184755;T/C missense_variant False PCGF1@p.C68Y 1 0.526315789 ENSG00000115289 chr2:74506881-74506881;C/T missense_variant False PCGF1@p.K37N 1 0.307692308 ENSG00000115289 chr2:74507130-74507130;C/G missense_variant False PCGF2@p.A178G 1 0.149253731 ENSG00000277258 chr17:38738396-38738396;G/C missense_variant False PCGF2@p.D127N 1 0.451612903 ENSG00000277258 chr17:38738799-38738799;C/T missense_variant False PCGF2@p.E146K 1 0.444444444 ENSG00000277258 chr17:38738585-38738585;C/T missense_variant False PCLO@p.E3233K 1 0.303703704 ENSG00000186472 chr7:82950891-82950891;C/T missense_variant False PCLO@p.E3701K 1 0.222222222 ENSG00000186472 chr7:82949487-82949487;C/T missense_variant False PCDHGC3@p.R183C 1 0.11627907 ENSG00000240184 chr5:141476663-141476663;C/T missense_variant False PCNT@p.E1445K 1 0.436363636 ENSG00000160299 chr21:46397381-46397381;G/A missense_variant False PCNT@p.E2921K 1 0.34375 ENSG00000160299 chr21:46435913-46435913;G/A missense_variant False PCNT@p.E2825Q 1 0.169491525 ENSG00000160299 chr21:46431937-46431937;G/C missense_variant False PCNT@p.E2750Q 1 0.162790698 ENSG00000160299 chr21:46431712-46431712;G/C missense_variant False PCNT@p.E2711K 1 0.16 ENSG00000160299 chr21:46431595-46431595;G/A missense_variant False PCNT@p.E1850K 1 0.116666667 ENSG00000160299 chr21:46411621-46411621;G/A missense_variant False PCNT@p.E1713K 1 0.365079365 ENSG00000160299 chr21:46411210-46411210;G/A missense_variant False PCNT@p.D969H 1 0.237704918 ENSG00000160299 chr21:46366879-46366879;G/C missense_variant False PCNA@p.G178A 1 0.226415094 ENSG00000132646 chr20:5117519-5117519;C/G missense_variant False PCNT@p.D2176H 1 0.108527132 ENSG00000160299 chr21:46416444-46416444;G/C missense_variant False PCNT@p.D1851N 1 0.098591549 ENSG00000160299 chr21:46411624-46411624;G/A missense_variant False PCNT@p.A778G 1 0.097701149 ENSG00000160299 chr21:46363658-46363658;C/G missense_variant False PCNT@p.A2363V 1 0.372093023 ENSG00000160299 chr21:46422033-46422033;C/T missense_variant False PCNP@p.L102V 1 0.566176471 ENSG00000081154 chr3:101585461-101585461;C/G missense_variant False PCNP@p.D157N 1 0.19858156 ENSG00000081154 chr3:101592685-101592685;G/A missense_variant False PCNT@p.E359Q 1 0.276041667 ENSG00000160299 chr21:46349054-46349054;G/C missense_variant False PCNT@p.E442K 1 0.408450704 ENSG00000160299 chr21:46349800-46349800;G/A missense_variant False PCNT@p.E842K 1 0.622119816 ENSG00000160299 chr21:46363849-46363849;G/A missense_variant False PCNT@p.E842Q 1 0.355 ENSG00000160299 chr21:46363849-46363849;G/C missense_variant False PCNT@p.H1958Y 1 0.4 ENSG00000160299 chr21:46411945-46411945;C/T missense_variant False PCNT@p.I197M 1 0.333333333 ENSG00000160299 chr21:46334720-46334720;C/G missense_variant False PCNT@p.I785V 1 0.276923077 ENSG00000160299 chr21:46363678-46363678;A/G missense_variant False PCNT@p.L2875I 1 0.071428571 ENSG00000160299 chr21:46432087-46432087;T/A missense_variant False PCNT@p.L2983F 1 0.454545455 ENSG00000160299 chr21:46436099-46436099;C/T missense_variant False PCNT@p.Q2361E 1 0.13559322 ENSG00000160299 chr21:46422026-46422026;C/G missense_variant False PCNT@p.Q2911H 1 0.428571429 ENSG00000160299 chr21:46432197-46432197;G/C missense_variant False PCNT@p.R1120H 1 0.105691057 ENSG00000160299 chr21:46385878-46385878;G/A missense_variant False PCNT@p.S1630A 1 0.513513514 ENSG00000160299 chr21:46401647-46401647;T/G missense_variant False PCNT@p.S2114F 1 0.775510204 ENSG00000160299 chr21:46416259-46416259;C/T missense_variant False PCNT@p.T815A 1 0.125 ENSG00000160299 chr21:46363768-46363768;A/G missense_variant False PCNT@p.V2456I 1 0.170940171 ENSG00000160299 chr21:46427667-46427667;G/A missense_variant False PCNX1@p.A15T 1 0.285714286 ENSG00000100731 chr14:70907893-70907893;G/A missense_variant False PCNA@p.M244I 1 0.191780822 ENSG00000132646 chr20:5115337-5115337;C/T missense_variant False PCNA@p.F215C 1 0.092307692 ENSG00000132646 chr20:5115511-5115511;A/C missense_variant False PCLO@p.E4433Q 1 0.192307692 ENSG00000186472 chr7:82914689-82914689;C/G missense_variant False PCLO@p.P1321A 1 0.450980392 ENSG00000186472 chr7:82965827-82965827;G/C missense_variant False PCLO@p.S1516R 1 0.511111111 ENSG00000186472 chr7:82956405-82956405;A/T missense_variant False PCLO@p.R5125T 1 0.097701149 ENSG00000186472 chr7:82758630-82758630;C/G missense_variant False PCLO@p.Q1991H 1 0.285714286 ENSG00000186472 chr7:82954980-82954980;T/A missense_variant False PCLO@p.P481A 1 0.246753247 ENSG00000186472 chr7:83155200-83155200;G/C missense_variant False PCLO@p.P3530Q 1 0.204081633 ENSG00000186472 chr7:82949999-82949999;G/T missense_variant False PCLO@p.P2663A 1 0.590163934 ENSG00000186472 chr7:82952966-82952966;G/C missense_variant False PCLO@p.L2999F 1 0.17721519 ENSG00000186472 chr7:82951956-82951956;T/G missense_variant False PCNA@p.E143K 1 0.2125 ENSG00000132646 chr20:5117625-5117625;C/T missense_variant False PCLO@p.K5109R 1 0.197802198 ENSG00000186472 chr7:82758678-82758678;T/C missense_variant False PCLO@p.K4202N 1 0.378378378 ENSG00000186472 chr7:82915380-82915380;T/G missense_variant False PCLO@p.I2987N 1 0.304812834 ENSG00000186472 chr7:82951993-82951993;A/T missense_variant False PCLO@p.H1721L 1 0.065789474 ENSG00000186472 chr7:82955791-82955791;T/A missense_variant False PCLO@p.G4647E 1 0.277777778 ENSG00000186472 chr7:82845377-82845377;C/T missense_variant False PCLO@p.E4987K 1 0.342105263 ENSG00000186472 chr7:82801566-82801566;C/T missense_variant False PCLO@p.S1774L 1 0.348314607 ENSG00000186472 chr7:82955632-82955632;G/A missense_variant False PCLO@p.S3080N 1 0.352941176 ENSG00000186472 chr7:82951349-82951349;C/T missense_variant False PCLO@p.T4907A 1 0.319148936 ENSG00000186472 chr7:82822567-82822567;T/C missense_variant False PCLO@p.V3181F 1 0.4 ENSG00000186472 chr7:82951047-82951047;C/A missense_variant False PCLO@p.V3622I 1 0.137681159 ENSG00000186472 chr7:82949724-82949724;C/T missense_variant False PCLO@p.Y3007F 1 0.060606061 ENSG00000186472 chr7:82951933-82951933;T/A missense_variant False PCM1@p.D1254N 1 0.824561404 ENSG00000078674 chr8:17972504-17972504;G/A missense_variant False PCM1@p.D1727Vfs*38 1 0.428571429 ENSG00000078674 chr8:18010627-18010628;-/TC frameshift_variant False PCM1@p.E1161K 1 0.306818182 ENSG00000078674 chr8:17969645-17969645;G/A missense_variant False PCM1@p.Q438H 1 0.461538462 ENSG00000078674 chr8:17955495-17955495;G/C missense_variant False PCM1@p.S1103L 1 0.642857143 ENSG00000078674 chr8:17967066-17967066;C/T missense_variant False PCM1@p.S464C 1 0.389830508 ENSG00000078674 chr8:17955572-17955572;C/G missense_variant False PCMTD1@p.D226N 1 0.275862069 ENSG00000168300 chr8:51831474-51831474;C/T missense_variant False PCMTD1@p.L351F 1 0.109375 ENSG00000168300 chr8:51820372-51820372;C/G missense_variant False PCMTD2@p.E322K 1 0.053571429 ENSG00000203880 chr20:64273478-64273478;G/A missense_variant False PCMTD2@p.H62D 1 0.094202899 ENSG00000203880 chr20:64260149-64260149;C/G missense_variant False PCNA@p.D86N 1 0.235294118 ENSG00000132646 chr20:5118832-5118832;C/T missense_variant False PCDHGC3@p.R74Q 1 0.260416667 ENSG00000240184 chr5:141476337-141476337;G/A missense_variant False PCDHGC3@p.E4Q 1 0.193548387 ENSG00000240184 chr5:141476126-141476126;G/C missense_variant False PCDHGA11@p.R81Q 1 0.372222222 ENSG00000253873 chr5:141421469-141421469;G/A missense_variant False PCDHGA4@p.V173A 1 0.189189189 ENSG00000262576 chr5:141355625-141355625;T/C missense_variant False PCDHGA5@p.D510H 1 0.385214008 ENSG00000253485 chr5:141365858-141365858;G/C missense_variant False PCDHGA5@p.A673D 1 0.721393035 ENSG00000253485 chr5:141366348-141366348;C/A missense_variant False PCDHGA5@p.A146V 1 0.065217391 ENSG00000253485 chr5:141364767-141364767;C/T missense_variant False PCDHGA4@p.V734I 1 0.230769231 ENSG00000262576 chr5:141357307-141357307;G/A missense_variant False PCDHGA4@p.V650M 1 0.507692308 ENSG00000262576 chr5:141357055-141357055;G/A missense_variant False PCDHGA4@p.V213G 1 0.096774194 ENSG00000262576 chr5:141355745-141355745;T/G missense_variant False PCDHGA4@p.S603Y 1 0.225063939 ENSG00000262576 chr5:141356915-141356915;C/A missense_variant False PCDHGA3@p.R627C 1 0.169811321 ENSG00000254245 chr5:141345912-141345912;C/T missense_variant False PCDHGA4@p.P36R 1 0.412698413 ENSG00000262576 chr5:141355214-141355214;C/G missense_variant False PCDHGA4@p.L325F 1 0.275 ENSG00000262576 chr5:141356082-141356082;G/C missense_variant False PCDHGA4@p.G646E 1 0.180851064 ENSG00000262576 chr5:141357044-141357044;G/A missense_variant False PCDHGA4@p.D717Y 1 0.2375 ENSG00000262576 chr5:141357256-141357256;G/T missense_variant False PCDHGA4@p.D317H 1 0.485714286 ENSG00000262576 chr5:141356056-141356056;G/C missense_variant False PCDHGA4@p.A118T 1 0.133333333 ENSG00000262576 chr5:141355459-141355459;G/A missense_variant False PCDHGA5@p.D51H 1 0.452830189 ENSG00000253485 chr5:141364481-141364481;G/C missense_variant False PCDHGA5@p.D570N 1 0.049808429 ENSG00000253485 chr5:141366038-141366038;G/A missense_variant False PCDHGA5@p.D674Y 1 0.313333333 ENSG00000253485 chr5:141366350-141366350;G/T missense_variant False PCDHGA5@p.D91N 1 0.333333333 ENSG00000253485 chr5:141364601-141364601;G/A missense_variant False PCDHGA5@p.G63R 1 0.35862069 ENSG00000253485 chr5:141364517-141364517;G/A missense_variant False PCDHGA5@p.I471M 1 0.221518987 ENSG00000253485 chr5:141365743-141365743;C/G missense_variant False PCDHGA5@p.Q600H 1 0.223684211 ENSG00000253485 chr5:141366130-141366130;G/C missense_variant False PCDHGA5@p.V695A 1 0.361271676 ENSG00000253485 chr5:141366414-141366414;T/C missense_variant False PCDHGA6@p.A582T 1 0.130952381 ENSG00000253731 chr5:141375827-141375827;G/A missense_variant False PCDHGA6@p.E756K 1 0.366666667 ENSG00000253731 chr5:141376349-141376349;G/A missense_variant False PCDHGA6@p.F770L 1 0.722222222 ENSG00000253731 chr5:141376393-141376393;C/A missense_variant False PCDHGA6@p.P362L 1 0.1 ENSG00000253731 chr5:141375168-141375168;C/T missense_variant False PCDHGA6@p.R80Q 1 0.0859375 ENSG00000253731 chr5:141374322-141374322;G/A missense_variant False PCDHGA6@p.S728L 1 0.272251309 ENSG00000253731 chr5:141376266-141376266;C/T missense_variant False PCDHGA7@p.A443Qfs*31 1 0.10483871 ENSG00000253537 chr5:141384225-141384225;G/- frameshift_variant False PCDHGA7@p.A516T 1 0.666666667 ENSG00000253537 chr5:141384445-141384445;G/A missense_variant False PCDHGA7@p.A593V 1 0.32967033 ENSG00000253537 chr5:141384677-141384677;C/T missense_variant False PCDHGA3@p.W719C 1 0.20610687 ENSG00000254245 chr5:141346190-141346190;G/T missense_variant False PCDHGA3@p.R202L 1 0.37254902 ENSG00000254245 chr5:141344638-141344638;G/T missense_variant False PCDHGA7@p.D359N 1 0.866666667 ENSG00000253537 chr5:141383974-141383974;G/A missense_variant False PCDHGA12@p.Y33C 1 0.450236967 ENSG00000253159 chr5:141430857-141430857;A/G missense_variant False PCDHGA1@p.Q640H 1 0.140625 ENSG00000204956 chr5:141332604-141332604;G/C missense_variant False PCDHGA1@p.L654F 1 0.538043478 ENSG00000204956 chr5:141332644-141332644;C/T missense_variant False PCDHGA1@p.I415M 1 0.486238532 ENSG00000204956 chr5:141331929-141331929;C/G missense_variant False PCDHGA1@p.I126S 1 0.544973545 ENSG00000204956 chr5:141331061-141331061;T/G missense_variant False PCDHGA1@p.E483K 1 0.29787234 ENSG00000204956 chr5:141332131-141332131;G/A missense_variant False PCDHGA1@p.E435K 1 0.521126761 ENSG00000204956 chr5:141331987-141331987;G/A missense_variant False PCDHGA12@p.R57Pfs*22 1 0.117647059 ENSG00000253159 chr5:141430924-141430925;-/CC frameshift_variant False PCDHGA3@p.R11T 1 0.146118721 ENSG00000254245 chr5:141344065-141344065;G/C missense_variant False PCDHGA12@p.P36S 1 0.396907216 ENSG00000253159 chr5:141430865-141430865;C/T missense_variant False PCDHGA12@p.L875F 1 0.21978022 ENSG00000253159 chr5:141510999-141510999;G/C missense_variant False PCDHGA12@p.E111K 1 0.329545455 ENSG00000253159 chr5:141431090-141431090;G/A missense_variant False PCDHGA12@p.D688N 1 0.102272727 ENSG00000253159 chr5:141432821-141432821;G/A missense_variant False PCDHGA12@p.D597Y 1 0.282051282 ENSG00000253159 chr5:141432548-141432548;G/T missense_variant False PCDHGA12@p.A329V 1 0.4140625 ENSG00000253159 chr5:141431745-141431745;C/T missense_variant False PCDHGA1@p.R287T 1 0.363636364 ENSG00000204956 chr5:141331544-141331544;G/C missense_variant False PCDHGA1@p.V664M 1 0.232 ENSG00000204956 chr5:141332674-141332674;G/A missense_variant False PCDHGA2@p.A682T 1 0.321917808 ENSG00000081853 chr5:141341015-141341015;G/A missense_variant False PCDHGA2@p.E120Q 1 0.097222222 ENSG00000081853 chr5:141339329-141339329;G/C missense_variant False PCDHGA2@p.E55Q 1 0.308823529 ENSG00000081853 chr5:141339134-141339134;G/C missense_variant False PCDHGA2@p.G149E 1 0.071428571 ENSG00000081853 chr5:141339417-141339417;G/A missense_variant False PCDHGA2@p.G258Afs*7 1 0.104761905 ENSG00000081853 chr5:141339742-141339742;G/- frameshift_variant False PCDHGA2@p.N429K 1 0.137931034 ENSG00000081853 chr5:141340258-141340258;C/A missense_variant False PCDHGA2@p.S453Y 1 0.237288136 ENSG00000081853 chr5:141340329-141340329;C/A missense_variant False PCDHGA2@p.S503C 1 0.092307692 ENSG00000081853 chr5:141340479-141340479;C/G missense_variant False PCDHGA3@p.A656T 1 0.43220339 ENSG00000254245 chr5:141345999-141345999;G/A missense_variant False PCDHGA3@p.D373H 1 0.552941176 ENSG00000254245 chr5:141345150-141345150;G/C missense_variant False PCDHGA3@p.D375H 1 0.186567164 ENSG00000254245 chr5:141345156-141345156;G/C missense_variant False PCDHGA3@p.D426H 1 0.215517241 ENSG00000254245 chr5:141345309-141345309;G/C missense_variant False PCDHGA3@p.D666N 1 0.22972973 ENSG00000254245 chr5:141346029-141346029;G/A missense_variant False PCDHGA3@p.F392L 1 0.138461538 ENSG00000254245 chr5:141345209-141345209;T/A missense_variant False PCDHGA3@p.G428V 1 0.567567568 ENSG00000254245 chr5:141345316-141345316;G/T missense_variant False PCDHGA7@p.D342N 1 0.869565217 ENSG00000253537 chr5:141383923-141383923;G/A missense_variant False PCDHGA7@p.E144D 1 0.116883117 ENSG00000253537 chr5:141383331-141383331;G/T missense_variant False PCDHGC3@p.E173K 1 0.209302326 ENSG00000240184 chr5:141476633-141476633;G/A missense_variant False PCDHGB4@p.E581Q 1 0.226415094 ENSG00000253953 chr5:141389625-141389625;G/C missense_variant False PCDHGB5@p.D566H 1 0.320754717 ENSG00000276547 chr5:141399823-141399823;G/C missense_variant False PCDHGB5@p.D270H 1 0.373493976 ENSG00000276547 chr5:141398935-141398935;G/C missense_variant False PCDHGB4@p.W722C 1 0.134770889 ENSG00000253953 chr5:141390050-141390050;G/C missense_variant False PCDHGB4@p.T421M 1 0.449704142 ENSG00000253953 chr5:141389146-141389146;C/T missense_variant False PCDHGB4@p.T381N 1 0.321428571 ENSG00000253953 chr5:141389026-141389026;C/A missense_variant False PCDHGB4@p.N274I 1 0.337349398 ENSG00000253953 chr5:141388705-141388705;A/T missense_variant False PCDHGB4@p.E276K 1 0.533333333 ENSG00000253953 chr5:141388710-141388710;G/A missense_variant False PCDHGB3@p.R15Q 1 0.196078431 ENSG00000262209 chr5:141370438-141370438;G/A missense_variant False PCDHGB4@p.E124Q 1 0.131147541 ENSG00000253953 chr5:141388254-141388254;G/C missense_variant False PCDHGB4@p.E122K 1 0.222222222 ENSG00000253953 chr5:141388248-141388248;G/A missense_variant False PCDHGB4@p.D595H 1 0.109375 ENSG00000253953 chr5:141389667-141389667;G/C missense_variant False PCDHGB4@p.D519E 1 0.166666667 ENSG00000253953 chr5:141389441-141389441;C/A missense_variant False PCDHGB4@p.A542V 1 0.222222222 ENSG00000253953 chr5:141389509-141389509;C/T missense_variant False PCDHGB3@p.S179C 1 0.346428571 ENSG00000262209 chr5:141370930-141370930;C/G missense_variant False PCDHGB5@p.R635H 1 0.294117647 ENSG00000276547 chr5:141400031-141400031;G/A missense_variant False PCDHGB6@p.D444H 1 0.172413793 ENSG00000253305 chr5:141409532-141409532;G/C missense_variant False PCDHGB6@p.E124K 1 0.342465753 ENSG00000253305 chr5:141408572-141408572;G/A missense_variant False PCDHGB6@p.E296K 1 0.295081967 ENSG00000253305 chr5:141409088-141409088;G/A missense_variant False PCDHGB6@p.H792Q 1 0.138888889 ENSG00000253305 chr5:141410578-141410578;T/A missense_variant False PCDHGB6@p.K87T 1 0.256637168 ENSG00000253305 chr5:141408462-141408462;A/C missense_variant False PCDHGB6@p.P38L 1 0.28 ENSG00000253305 chr5:141408315-141408315;C/T missense_variant False PCDHGB6@p.R202Q 1 0.473684211 ENSG00000253305 chr5:141408807-141408807;G/A missense_variant False PCDHGB6@p.S250T 1 0.25 ENSG00000253305 chr5:141408951-141408951;G/C missense_variant False PCDHGB6@p.V47E 1 0.24691358 ENSG00000253305 chr5:141408342-141408342;T/A missense_variant False PCDHGB7@p.D354H 1 0.517241379 ENSG00000254122 chr5:141418919-141418919;G/C missense_variant False PCDHGB7@p.I319L 1 0.875 ENSG00000254122 chr5:141418814-141418814;A/T missense_variant False PCDHGB7@p.P579L 1 0.512195122 ENSG00000254122 chr5:141419595-141419595;C/T missense_variant False PCDHGC3@p.A598T 1 0.666666667 ENSG00000240184 chr5:141477908-141477908;G/A missense_variant False PCDHGC3@p.D163N 1 0.243902439 ENSG00000240184 chr5:141476603-141476603;G/A missense_variant False PCDHGC3@p.D270Ifs*28 1 0.126582278 ENSG00000240184 chr5:141476923-141476923;G/- frameshift_variant False PCDHGC3@p.D559N 1 0.264957265 ENSG00000240184 chr5:141477791-141477791;G/A missense_variant False PCDHGB3@p.S166L 1 0.494680851 ENSG00000262209 chr5:141370891-141370891;C/T missense_variant False PCDHGB3@p.I277L 1 0.320754717 ENSG00000262209 chr5:141371223-141371223;A/C missense_variant False PCDHGA7@p.E156Q 1 0.264705882 ENSG00000253537 chr5:141383365-141383365;G/C missense_variant False PCDHGA8@p.V644A 1 0.4125 ENSG00000253767 chr5:141394744-141394744;T/C missense_variant False PCDHGA9@p.R80L 1 0.148148148 ENSG00000261934 chr5:141403191-141403191;G/T missense_variant False PCDHGA9@p.G325E 1 0.247368421 ENSG00000261934 chr5:141403926-141403926;G/A missense_variant False PCDHGA9@p.E61Q 1 0.316091954 ENSG00000261934 chr5:141403133-141403133;G/C missense_variant False PCDHGA9@p.D480N 1 0.231884058 ENSG00000261934 chr5:141404390-141404390;G/A missense_variant False PCDHGA9@p.D112H 1 0.23255814 ENSG00000261934 chr5:141403286-141403286;G/C missense_variant False PCDHGA8@p.V695M 1 0.28125 ENSG00000253767 chr5:141394896-141394896;G/A missense_variant False PCDHGA8@p.R584C 1 0.261261261 ENSG00000253767 chr5:141394563-141394563;C/T missense_variant False PCDHGB3@p.G217W 1 0.311111111 ENSG00000262209 chr5:141371043-141371043;G/T missense_variant False PCDHGA8@p.P131S 1 0.276315789 ENSG00000253767 chr5:141393204-141393204;C/T missense_variant False PCDHGA8@p.E38V 1 0.090909091 ENSG00000253767 chr5:141392926-141392926;A/T missense_variant False PCDHGA8@p.E310K 1 0.091603053 ENSG00000253767 chr5:141393741-141393741;G/A missense_variant False PCDHGA7@p.R526T 1 0.148648649 ENSG00000253537 chr5:141384476-141384476;G/C missense_variant False PCDHGA7@p.R151W 1 0.449275362 ENSG00000253537 chr5:141383350-141383350;C/T missense_variant False PCDHGA7@p.P653S 1 0.152173913 ENSG00000253537 chr5:141384856-141384856;C/T missense_variant False PCDHGB1@p.A512T 1 0.424242424 ENSG00000254221 chr5:141351794-141351794;G/A missense_variant False PCDHGB1@p.E90Q 1 0.090909091 ENSG00000254221 chr5:141350528-141350528;G/C missense_variant False PCDHGB1@p.F448C 1 0.327868852 ENSG00000254221 chr5:141351603-141351603;T/G missense_variant False PCDHGB1@p.G301S 1 0.326666667 ENSG00000254221 chr5:141351161-141351161;G/A missense_variant False PCDHGB1@p.K395N 1 0.466666667 ENSG00000254221 chr5:141351445-141351445;G/T missense_variant False PCDHGB1@p.R228P 1 0.386363636 ENSG00000254221 chr5:141350943-141350943;G/C missense_variant False PCDHGB1@p.V252I 1 0.197916667 ENSG00000254221 chr5:141351014-141351014;G/A missense_variant False PCDHGB1@p.Y244C 1 0.257575758 ENSG00000254221 chr5:141350991-141350991;A/G missense_variant False PCDHGB2@p.A559V 1 0.246153846 ENSG00000253910 chr5:141361811-141361811;C/T missense_variant False PCDHGB2@p.A777T 1 0.169902913 ENSG00000253910 chr5:141362464-141362464;G/A missense_variant False PCDHGB2@p.D128N 1 0.325581395 ENSG00000253910 chr5:141360517-141360517;G/A missense_variant False PCDHGB2@p.L317V 1 0.095238095 ENSG00000253910 chr5:141361084-141361084;C/G missense_variant False PCDHGB2@p.R639C 1 0.170731707 ENSG00000253910 chr5:141362050-141362050;C/T missense_variant False PCDHGB3@p.A516T 1 0.475247525 ENSG00000262209 chr5:141371940-141371940;G/A missense_variant False PCDHGB3@p.A656V 1 0.224489796 ENSG00000262209 chr5:141372361-141372361;C/T missense_variant False PCDHGB3@p.D792Y 1 0.090909091 ENSG00000262209 chr5:141372768-141372768;G/T missense_variant False PCDHGB3@p.E204K 1 0.166666667 ENSG00000262209 chr5:141371004-141371004;G/A missense_variant False OR8B4@p.S8L 1 0.063291139 ENSG00000280090 chr11:124424849-124424849;G/A missense_variant False OR8B4@p.S222P 1 0.340909091 ENSG00000280090 chr11:124424208-124424208;A/G missense_variant False NPAS2@p.E436K 1 0.37398374 ENSG00000170485 chr2:100975481-100975481;G/A missense_variant False NUP205@p.L504V 1 0.333333333 ENSG00000155561 chr7:135591486-135591486;C/G missense_variant False NUP205@p.Q384E 1 0.238095238 ENSG00000155561 chr7:135584939-135584939;C/G missense_variant False NUP205@p.Q1921E 1 0.071770335 ENSG00000155561 chr7:135645545-135645545;C/G missense_variant False NUP205@p.Q1821H 1 0.186666667 ENSG00000155561 chr7:135643262-135643262;G/C missense_variant False NUP205@p.Q1433H 1 0.130909091 ENSG00000155561 chr7:135619857-135619857;G/C missense_variant False NUP205@p.P1380A 1 0.12345679 ENSG00000155561 chr7:135619597-135619597;C/G missense_variant False NUP205@p.L995V 1 0.133333333 ENSG00000155561 chr7:135606828-135606828;C/G missense_variant False NUP205@p.L337F 1 0.298701299 ENSG00000155561 chr7:135578884-135578884;G/T missense_variant False NUP205@p.S1358L 1 0.277777778 ENSG00000155561 chr7:135619532-135619532;C/T missense_variant False NUP205@p.L1649R 1 0.297297297 ENSG00000155561 chr7:135630357-135630357;T/G missense_variant False NUP205@p.L1315F 1 0.165745856 ENSG00000155561 chr7:135618585-135618585;A/C missense_variant False NUP205@p.L1232F 1 0.298507463 ENSG00000155561 chr7:135617605-135617605;C/T missense_variant False NUP205@p.H1281Y 1 0.118055556 ENSG00000155561 chr7:135618481-135618481;C/T missense_variant False NUP205@p.H1233Y 1 0.208955224 ENSG00000155561 chr7:135617608-135617608;C/T missense_variant False NUP205@p.G1474D 1 0.24137931 ENSG00000155561 chr7:135622867-135622867;G/A missense_variant False NUP205@p.R1877L 1 0.077922078 ENSG00000155561 chr7:135644965-135644965;G/T missense_variant False NUP205@p.S1787L 1 0.044871795 ENSG00000155561 chr7:135638651-135638651;C/T missense_variant False NUP93@p.D630N 1 0.394736842 ENSG00000102900 chr16:56836706-56836706;G/A missense_variant False NUP210@p.F149L 1 0.25 ENSG00000132182 chr3:13391297-13391297;G/C missense_variant False NUP210@p.S1511L 1 0.181818182 ENSG00000132182 chr3:13325907-13325907;G/A missense_variant False NUP210@p.S1505L 1 0.076923077 ENSG00000132182 chr3:13325925-13325925;G/A missense_variant False NUP210@p.Q704K 1 0.176470588 ENSG00000132182 chr3:13360314-13360314;G/T missense_variant False NUP210@p.L425V 1 0.093333333 ENSG00000132182 chr3:13376311-13376311;G/C missense_variant False NUP210@p.I452S 1 0.111731844 ENSG00000132182 chr3:13375580-13375580;A/C missense_variant False NUP210@p.G433A 1 0.077777778 ENSG00000132182 chr3:13375637-13375637;C/G missense_variant False NUP210@p.E1719D 1 0.364864865 ENSG00000132182 chr3:13321594-13321594;C/G missense_variant False NUP205@p.W1905S 1 0.214285714 ENSG00000155561 chr7:135645498-135645498;G/C missense_variant False NUP210@p.E136D 1 0.154761905 ENSG00000132182 chr3:13397385-13397385;C/A missense_variant False NUP210@p.E127V 1 0.333333333 ENSG00000132182 chr3:13397413-13397413;T/A missense_variant False NUP210@p.E1148K 1 0.192592593 ENSG00000132182 chr3:13339883-13339883;C/T missense_variant False NUP210@p.D374N 1 0.164444444 ENSG00000132182 chr3:13377488-13377488;C/T missense_variant False NUP210@p.A850T 1 0.094736842 ENSG00000132182 chr3:13353634-13353634;C/T missense_variant False NUP205@p.W624L 1 0.090909091 ENSG00000155561 chr7:135594587-135594587;G/T missense_variant False NUP205@p.E351A 1 0.538461538 ENSG00000155561 chr7:135584841-135584841;A/C missense_variant False NUP205@p.E1572Q 1 0.118181818 ENSG00000155561 chr7:135626282-135626282;G/C missense_variant False NUP205@p.E1291K 1 0.476190476 ENSG00000155561 chr7:135618511-135618511;G/A missense_variant False NUP160@p.E377K 1 0.275862069 ENSG00000030066 chr11:47822137-47822137;C/T missense_variant False NUP160@p.S170F 1 0.34375 ENSG00000030066 chr11:47840394-47840394;G/A missense_variant False NUP160@p.Q896E 1 0.178082192 ENSG00000030066 chr11:47803527-47803527;G/C missense_variant False NUP160@p.N100S 1 0.125 ENSG00000030066 chr11:47847863-47847863;T/C missense_variant False NUP160@p.K1280E 1 0.277777778 ENSG00000030066 chr11:47786463-47786463;T/C missense_variant False NUP160@p.G1318A 1 0.559055118 ENSG00000030066 chr11:47784959-47784959;C/G missense_variant False NUP160@p.E583D 1 0.101694915 ENSG00000030066 chr11:47813353-47813353;C/G missense_variant False NUP160@p.D398Y 1 0.216216216 ENSG00000030066 chr11:47821809-47821809;C/A missense_variant False NUP205@p.A1583G 1 0.230769231 ENSG00000155561 chr7:135626316-135626316;C/G missense_variant False NUP155@p.T1277S 1 0.079754601 ENSG00000113569 chr5:37294429-37294429;G/C missense_variant False NUP155@p.R693I 1 0.12244898 ENSG00000113569 chr5:37325914-37325914;C/A missense_variant False NUP155@p.P589L 1 0.509803922 ENSG00000113569 chr5:37329237-37329237;G/A missense_variant False NUP155@p.L588V 1 0.353846154 ENSG00000113569 chr5:37329241-37329241;G/C missense_variant False NUP155@p.L264I 1 0.141509434 ENSG00000113569 chr5:37350199-37350199;G/T missense_variant False NUP155@p.L117I 1 0.154320988 ENSG00000113569 chr5:37363931-37363931;G/T missense_variant False NUP160@p.Y1094F 1 0.069767442 ENSG00000030066 chr11:47797787-47797787;T/A missense_variant False NUP188@p.D163H 1 0.37037037 ENSG00000095319 chr9:128959036-128959036;G/C missense_variant False NUP188@p.E1298Q 1 0.35 ENSG00000095319 chr9:129001577-129001577;G/C missense_variant False NUP188@p.E1686Q 1 0.101604278 ENSG00000095319 chr9:129006351-129006351;G/C missense_variant False NUP188@p.E749K 1 0.1 ENSG00000095319 chr9:128986856-128986856;G/A missense_variant False NUP188@p.H1085Y 1 0.208695652 ENSG00000095319 chr9:128995416-128995416;C/T missense_variant False NUP188@p.I217F 1 0.228571429 ENSG00000095319 chr9:128968569-128968569;A/T missense_variant False NUP188@p.P645A 1 0.510638298 ENSG00000095319 chr9:128983522-128983522;C/G missense_variant False NUP188@p.Q1665E 1 0.290322581 ENSG00000095319 chr9:129006288-129006288;C/G missense_variant False NUP188@p.R1004Q 1 0.53125 ENSG00000095319 chr9:128993688-128993688;G/A missense_variant False NUP188@p.R1168W 1 0.135135135 ENSG00000095319 chr9:128998610-128998610;C/T missense_variant False NUP188@p.R1749T 1 0.242236025 ENSG00000095319 chr9:129006674-129006674;G/C missense_variant False NUP188@p.R42Dfs*3 1 0.136363636 ENSG00000095319 chr9:128952809-128952809;C/- frameshift_variant False NUP188@p.S1252T 1 0.173913043 ENSG00000095319 chr9:128999717-128999717;G/C missense_variant False NUP188@p.S1724C 1 0.494845361 ENSG00000095319 chr9:129006599-129006599;C/G missense_variant False NUP188@p.S386C 1 0.125 ENSG00000095319 chr9:128973203-128973203;C/G missense_variant False NUP188@p.V615I 1 0.173184358 ENSG00000095319 chr9:128983339-128983339;G/A missense_variant False NUP210@p.S194L 1 0.270588235 ENSG00000132182 chr3:13388406-13388406;G/A missense_variant False NUP210L@p.D298H 1 0.144578313 ENSG00000143552 chr1:154135931-154135931;C/G missense_variant False NUP210L@p.E1361Q 1 0.21319797 ENSG00000143552 chr1:154025583-154025583;C/G missense_variant False NUP50@p.G265V 1 0.269230769 ENSG00000093000 chr22:45178691-45178691;G/T missense_variant False NUP62@p.E343Q 1 0.157894737 ENSG00000213024 chr19:49908781-49908781;C/G missense_variant False NUP58@p.S35F 1 0.357142857 ENSG00000139496 chr13:25301877-25301877;C/T missense_variant False NUP58@p.L47F 1 0.285714286 ENSG00000139496 chr13:25307837-25307837;C/T missense_variant False NUP50@p.V348I 1 0.12195122 ENSG00000093000 chr22:45181324-45181324;G/A missense_variant False NUP50@p.V125L 1 0.095652174 ENSG00000093000 chr22:45178270-45178270;G/C missense_variant False NUP50@p.K229Q 1 0.435897436 ENSG00000093000 chr22:45178582-45178582;A/C missense_variant False NUP50@p.D278N 1 0.304347826 ENSG00000093000 chr22:45178729-45178729;G/A missense_variant False NUP42@p.L158F 1 0.155555556 ENSG00000136243 chr7:23195867-23195867;G/C missense_variant False NUP43@p.S255C 1 0.351351351 ENSG00000120253 chr6:149736497-149736497;G/C missense_variant False NUP43@p.R72T 1 0.165048544 ENSG00000120253 chr6:149745968-149745968;C/G missense_variant False NUP43@p.R157T 1 0.127659574 ENSG00000120253 chr6:149742422-149742422;C/G missense_variant False NUP43@p.Q27H 1 0.272727273 ENSG00000120253 chr6:149746415-149746415;C/G missense_variant False NUP43@p.D171H 1 0.227642276 ENSG00000120253 chr6:149738770-149738770;C/G missense_variant False NUP42@p.R188K 1 0.369863014 ENSG00000136243 chr7:23196720-23196720;G/A missense_variant False NUP62@p.E348K 1 0.164705882 ENSG00000213024 chr19:49908766-49908766;C/T missense_variant False NUP62@p.E501K 1 0.483516484 ENSG00000213024 chr19:49908307-49908307;C/T missense_variant False NUP62@p.W340C 1 0.374301676 ENSG00000213024 chr19:49908788-49908788;C/A missense_variant False NUP85@p.D626N 1 0.385964912 ENSG00000125450 chr17:75235584-75235584;G/A missense_variant False NUP85@p.E543K 1 0.454054054 ENSG00000125450 chr17:75234648-75234648;G/A missense_variant False NUP85@p.K20N 1 0.106707317 ENSG00000125450 chr17:75208553-75208553;G/C missense_variant False NUP85@p.L80V 1 0.103896104 ENSG00000125450 chr17:75209933-75209933;C/G missense_variant False NUP85@p.M475I 1 0.160839161 ENSG00000125450 chr17:75232879-75232879;G/A missense_variant False NUP85@p.S107L 1 0.113636364 ENSG00000125450 chr17:75212021-75212021;C/T missense_variant False NUP88@p.D734N 1 0.132867133 ENSG00000108559 chr17:5386232-5386232;C/T missense_variant False NUP88@p.E367Q 1 0.131313131 ENSG00000108559 chr17:5404192-5404192;C/G missense_variant False NUP88@p.E67Q 1 0.432989691 ENSG00000108559 chr17:5419452-5419452;C/G missense_variant False NUP88@p.E91K 1 0.375 ENSG00000108559 chr17:5419380-5419380;C/T missense_variant False NUP88@p.F448L 1 0.692307692 ENSG00000108559 chr17:5394931-5394931;A/G missense_variant False NUP88@p.I735V 1 0.931034483 ENSG00000108559 chr17:5386229-5386229;T/C missense_variant False NUP88@p.P36S 1 0.25 ENSG00000108559 chr17:5419545-5419545;G/A missense_variant False NUP88@p.R84W 1 0.333333333 ENSG00000108559 chr17:5419401-5419401;G/A missense_variant False NUP42@p.N56Mfs*66 1 0.115384615 ENSG00000136243 chr7:23185112-23185112;C/- frameshift_variant False NUP42@p.K404N 1 0.30952381 ENSG00000136243 chr7:23200685-23200685;G/C missense_variant False NUP210L@p.E210Q 1 0.304347826 ENSG00000143552 chr1:154139891-154139891;C/G missense_variant False NUP210L@p.R688Q 1 0.425531915 ENSG00000143552 chr1:154095059-154095059;C/T missense_variant False NUP214@p.G1286E 1 0.277777778 ENSG00000126883 chr9:131197351-131197351;G/A missense_variant False NUP214@p.E774Q 1 0.282051282 ENSG00000126883 chr9:131151778-131151778;G/C missense_variant False NUP214@p.E719K 1 0.156862745 ENSG00000126883 chr9:131150643-131150643;G/A missense_variant False NUP214@p.A704V 1 0.346153846 ENSG00000126883 chr9:131150394-131150394;C/T missense_variant False NUP214@p.A53T 1 0.066298343 ENSG00000126883 chr9:131127635-131127635;G/A missense_variant False NUP210L@p.T1187A 1 0.469135802 ENSG00000143552 chr1:154046294-154046294;T/C missense_variant False NUP210L@p.R1382P 1 0.129310345 ENSG00000143552 chr1:154023275-154023275;C/G missense_variant False NUP42@p.E294K 1 0.5 ENSG00000136243 chr7:23200353-23200353;G/A missense_variant False NUP210L@p.P1475S 1 0.094017094 ENSG00000143552 chr1:154022219-154022219;G/A missense_variant False NUP210L@p.L626V 1 0.202247191 ENSG00000143552 chr1:154100087-154100087;G/C missense_variant False NUP210L@p.L1850V 1 0.363636364 ENSG00000143552 chr1:153993033-153993033;G/C missense_variant False NUP210L@p.H572Y 1 0.132911392 ENSG00000143552 chr1:154104117-154104117;G/A missense_variant False NUP210L@p.G1372W 1 0.039426523 ENSG00000143552 chr1:154025550-154025550;C/A missense_variant False NUP210L@p.E946Q 1 0.18699187 ENSG00000143552 chr1:154060554-154060554;C/G missense_variant False NUP214@p.H818Y 1 0.162162162 ENSG00000126883 chr9:131159398-131159398;C/T missense_variant False NUP214@p.N918S 1 0.235955056 ENSG00000126883 chr9:131163899-131163899;A/G missense_variant False NUP214@p.P1132L 1 0.311111111 ENSG00000126883 chr9:131178386-131178386;C/T missense_variant False NUP214@p.P563S 1 0.139534884 ENSG00000126883 chr9:131144672-131144672;C/T missense_variant False NUP214@p.Q2041H 1 0.15 ENSG00000126883 chr9:131230678-131230678;G/C missense_variant False NUP214@p.Q60H 1 0.166666667 ENSG00000126883 chr9:131127658-131127658;G/T missense_variant False NUP214@p.R783T 1 0.257142857 ENSG00000126883 chr9:131151806-131151806;G/C missense_variant False NUP214@p.S1219L 1 0.174418605 ENSG00000126883 chr9:131192289-131192289;C/T missense_variant False NUP35@p.E234D 1 0.178082192 ENSG00000163002 chr2:183158375-183158375;A/T missense_variant False NUP35@p.M64I 1 0.146341463 ENSG00000163002 chr2:183128438-183128438;G/A missense_variant False NUP35@p.R52L 1 0.287878788 ENSG00000163002 chr2:183128401-183128401;G/T missense_variant False NUP35@p.S25F 1 0.069444444 ENSG00000163002 chr2:183128320-183128320;C/T missense_variant False NUP37@p.E55Q 1 0.171428571 ENSG00000075188 chr12:102112226-102112226;C/G missense_variant False NUP37@p.T97S 1 0.3 ENSG00000075188 chr12:102101097-102101097;T/A missense_variant False NUP42@p.D241H 1 0.418918919 ENSG00000136243 chr7:23200194-23200194;G/C missense_variant False NUP42@p.D383H 1 0.139534884 ENSG00000136243 chr7:23200620-23200620;G/C missense_variant False NUP42@p.D74Afs*10 1 0.246835443 ENSG00000136243 chr7:23185169-23185170;AT/- frameshift_variant False NUP155@p.G754E 1 0.064516129 ENSG00000113569 chr5:37318032-37318032;C/T missense_variant False NUP155@p.F227L 1 0.373134328 ENSG00000113569 chr5:37351232-37351232;G/T missense_variant False NUP155@p.E713Q 1 0.496551724 ENSG00000113569 chr5:37324062-37324062;C/G missense_variant False NUDCD1@p.D193N 1 0.809302326 ENSG00000120526 chr8:109293407-109293407;C/T missense_variant False NUDT12@p.L230V 1 0.561643836 ENSG00000112874 chr5:103558987-103558987;G/C missense_variant False NUDT11@p.R89G 1 0.083333333 ENSG00000196368 chrX:51496180-51496180;G/C missense_variant False NUDT11@p.D43G 1 0.583333333 ENSG00000196368 chrX:51496317-51496317;T/C missense_variant False NUDCD1@p.Q305Vfs*4 1 0.663265306 ENSG00000120526 chr8:109281082-109281083;TG/- frameshift_variant False NUDCD1@p.P555S 1 0.131205674 ENSG00000120526 chr8:109243098-109243098;G/A missense_variant False NUDCD1@p.E478Q 1 0.214285714 ENSG00000120526 chr8:109245349-109245349;C/G missense_variant False NUDCD1@p.C32Y 1 0.277777778 ENSG00000120526 chr8:109333916-109333916;C/T missense_variant False NUBPL@p.R49I 1 0.411764706 ENSG00000151413 chr14:31562105-31562105;G/T missense_variant False NUDC@p.T177Pfs*13 1 0.488888889 ENSG00000090273 chr1:26942759-26942759;A/- frameshift_variant False NUDC@p.S97L 1 0.235294118 ENSG00000090273 chr1:26941587-26941587;C/T missense_variant False NUDC@p.E52K 1 0.394736842 ENSG00000090273 chr1:26924161-26924161;G/A missense_variant False NUCB2@p.E323G 1 0.309859155 ENSG00000070081 chr11:17315441-17315441;A/G missense_variant False NUCB2@p.D63N 1 0.154929577 ENSG00000070081 chr11:17296146-17296146;G/A missense_variant False NUCB1@p.R323S 1 0.120481928 ENSG00000104805 chr19:48919253-48919253;G/T missense_variant False NUDT13@p.T241A 1 0.433333333 ENSG00000166321 chr10:73126690-73126690;A/G missense_variant False NUDT14@p.S77C 1 0.609756098 ENSG00000183828 chr14:105176732-105176732;G/C missense_variant False NUDT15@p.R34S 1 0.5 ENSG00000136159 chr13:48037848-48037848;G/C missense_variant False NUDT16@p.E118Q 1 0.245614035 ENSG00000198585 chr3:131382259-131382259;G/C missense_variant False NUDT16@p.E83K 1 0.238095238 ENSG00000198585 chr3:131382154-131382154;G/A missense_variant False NUDT16@p.E91K 1 0.24 ENSG00000198585 chr3:131382178-131382178;G/A missense_variant False NUDT16L1@p.E185Q 1 0.208791209 ENSG00000168101 chr16:4695096-4695096;G/C missense_variant False NUDT17@p.R277T 1 0.345864662 ENSG00000186364 chr1:145848210-145848210;G/C missense_variant False NUDT19@p.E120K 1 0.178571429 ENSG00000213965 chr19:32692318-32692318;G/A missense_variant False NUDT19@p.F80L 1 0.166666667 ENSG00000213965 chr19:32692200-32692200;C/A missense_variant False NUDT19@p.F96L 1 0.107142857 ENSG00000213965 chr19:32692248-32692248;C/G missense_variant False NUDT19@p.I191V 1 0.428571429 ENSG00000213965 chr19:32692531-32692531;A/G missense_variant False NUDT1@p.L42F 1 0.37037037 ENSG00000106268 chr7:2244629-2244629;C/T missense_variant False NUDT21@p.N227D 1 0.111111111 ENSG00000167005 chr16:56432717-56432717;T/C missense_variant False NUDT22@p.E213K 1 0.222222222 ENSG00000149761 chr11:64229304-64229304;G/A missense_variant False NUDT22@p.R103Q 1 0.189655172 ENSG00000149761 chr11:64226960-64226960;G/A missense_variant False NUDT22@p.R88L 1 0.409090909 ENSG00000149761 chr11:64226915-64226915;G/T missense_variant False NUCB1@p.M301I 1 0.285714286 ENSG00000104805 chr19:48919116-48919116;G/A missense_variant False NUBPL@p.L266F 1 0.263157895 ENSG00000151413 chr14:31846573-31846573;C/T missense_variant False NUDT4@p.D106H 1 0.073170732 ENSG00000173598 chr12:93398831-93398831;G/C missense_variant False NTRK3@p.Q119E 1 0.852272727 ENSG00000140538 chr15:88183458-88183458;G/C missense_variant False NTSR2@p.P382H 1 0.144329897 ENSG00000169006 chr2:11658567-11658567;G/T missense_variant False NTSR2@p.E186K 1 0.28125 ENSG00000169006 chr2:11669574-11669574;C/T missense_variant False NTS@p.P71* 1 0.081081081 ENSG00000133636 chr12:85878416-85878420;CAGCC/- frameshift_variant False NTS@p.N155Dfs*30 1 0.178217822 ENSG00000133636 chr12:85882322-85882334;GAGAATAAACCCA/- frameshift_variant False NTS@p.L58V 1 0.075949367 ENSG00000133636 chr12:85878381-85878381;C/G missense_variant False NTS@p.C62F 1 0.160583942 ENSG00000133636 chr12:85878394-85878394;G/T missense_variant False NTRK3@p.L53F 1 0.261904762 ENSG00000140538 chr15:88255997-88255997;G/A missense_variant False NUBP2@p.S119F 1 0.293103448 ENSG00000095906 chr16:1787698-1787698;C/T missense_variant False NTRK3@p.E398K 1 0.289940828 ENSG00000140538 chr15:88135113-88135113;C/T missense_variant False NTRK3@p.E360K 1 0.870967742 ENSG00000140538 chr15:88135227-88135227;C/T missense_variant False NTRK3@p.D609N 1 0.111111111 ENSG00000140538 chr15:87933076-87933076;C/T missense_variant False NTRK2@p.V470I 1 0.367647059 ENSG00000148053 chr9:84867254-84867254;G/A missense_variant False NTRK2@p.T731M 1 0.459459459 ENSG00000148053 chr9:85020273-85020273;C/T missense_variant False NTRK2@p.N234Y 1 0.159292035 ENSG00000148053 chr9:84723689-84723689;A/T missense_variant False NUAK1@p.E363Q 1 0.205882353 ENSG00000074590 chr12:106067701-106067701;C/G missense_variant False NUAK1@p.E374Q 1 0.428571429 ENSG00000074590 chr12:106067668-106067668;C/G missense_variant False NUAK1@p.I297V 1 0.244897959 ENSG00000074590 chr12:106067899-106067899;T/C missense_variant False NUAK1@p.L110V 1 0.306451613 ENSG00000074590 chr12:106106438-106106438;G/C missense_variant False NUAK1@p.M97I 1 0.833333333 ENSG00000074590 chr12:106106475-106106475;C/A missense_variant False NUAK1@p.S405R 1 0.148148148 ENSG00000074590 chr12:106067573-106067573;G/C missense_variant False NUAK2@p.A39S 1 0.166666667 ENSG00000163545 chr1:205321514-205321514;C/A missense_variant False NUAK2@p.D555Y 1 0.157894737 ENSG00000163545 chr1:205303674-205303674;C/A missense_variant False NUAK2@p.E151K 1 0.135135135 ENSG00000163545 chr1:205308634-205308634;C/T missense_variant False NUAK2@p.G11R 1 0.447368421 ENSG00000163545 chr1:205321598-205321598;C/G missense_variant False NUAK2@p.P110L 1 0.186440678 ENSG00000163545 chr1:205311728-205311728;G/A missense_variant False NUB1@p.D528H 1 0.416666667 ENSG00000013374 chr7:151376652-151376652;G/C missense_variant False NUB1@p.D53H 1 0.28 ENSG00000013374 chr7:151345434-151345434;G/C missense_variant False NUB1@p.P559T 1 0.333333333 ENSG00000013374 chr7:151376745-151376745;C/A missense_variant False NUB1@p.Q147E 1 0.283333333 ENSG00000013374 chr7:151352834-151352834;C/G missense_variant False NUB1@p.R40M 1 0.303030303 ENSG00000013374 chr7:151345396-151345396;G/T missense_variant False NUBP2@p.I31V 1 0.123809524 ENSG00000095906 chr16:1786611-1786611;A/G missense_variant False NUDT3@p.K116N 1 0.076923077 ENSG00000272325 chr6:34288924-34288924;C/G missense_variant False NUDT5@p.S24L 1 0.342857143 ENSG00000165609 chr10:12184949-12184949;G/A missense_variant False NUP155@p.E694V 1 0.540145985 ENSG00000113569 chr5:37325911-37325911;T/A missense_variant False NUP107@p.R317H 1 0.244186047 ENSG00000111581 chr12:68713789-68713789;G/A missense_variant False NUP133@p.N348Kfs*3 1 0.1875 ENSG00000069248 chr1:229495497-229495498;-/T frameshift_variant False NUP133@p.H616N 1 0.403846154 ENSG00000069248 chr1:229475643-229475643;G/T missense_variant False NUP133@p.E1149K 1 0.19047619 ENSG00000069248 chr1:229441930-229441930;C/T missense_variant False NUP133@p.D110H 1 0.078947368 ENSG00000069248 chr1:229502076-229502076;C/G missense_variant False NUP133@p.D1059N 1 0.25 ENSG00000069248 chr1:229450530-229450530;C/T missense_variant False NUP107@p.S532Pfs*15 1 0.099678457 ENSG00000111581 chr12:68726513-68726525;TTTAGCAAATGGC/- frameshift_variant False NUP107@p.Q258H 1 0.384615385 ENSG00000111581 chr12:68709282-68709282;G/T missense_variant False NUMB@p.A164_Q170del 1 0.793103448 ENSG00000133961 chr14:73287256-73287276;TGCTTGCGCTCTAAACAGGCT/- inframe_deletion False NUP107@p.M152I 1 0.516129032 ENSG00000111581 chr12:68696826-68696826;G/A missense_variant False NUP107@p.L860V 1 0.170731707 ENSG00000111581 chr12:68741888-68741888;C/G missense_variant False NUP107@p.E567D 1 0.161290323 ENSG00000111581 chr12:68727356-68727356;A/C missense_variant False NUP107@p.E274D 1 0.286885246 ENSG00000111581 chr12:68710025-68710025;G/C missense_variant False NUP107@p.A686S 1 0.333333333 ENSG00000111581 chr12:68732694-68732694;G/T missense_variant False NUMB@p.R196P 1 0.144230769 ENSG00000133961 chr14:73287178-73287178;C/G missense_variant False NUP153@p.A119T 1 0.056818182 ENSG00000124789 chr6:17675750-17675750;C/T missense_variant False NUP153@p.E1105D 1 0.492957746 ENSG00000124789 chr6:17628884-17628884;C/A missense_variant False NUP153@p.G237E 1 0.25 ENSG00000124789 chr6:17675242-17675242;C/T missense_variant False NUP153@p.M467I 1 0.391304348 ENSG00000124789 chr6:17649295-17649295;C/A missense_variant False NUP153@p.S1003Y 1 0.255319149 ENSG00000124789 chr6:17629191-17629191;G/T missense_variant False NUP153@p.S1068L 1 0.140186916 ENSG00000124789 chr6:17628996-17628996;G/A missense_variant False NUP153@p.S1147L 1 0.265625 ENSG00000124789 chr6:17628759-17628759;G/A missense_variant False NUP153@p.S1200L 1 0.384615385 ENSG00000124789 chr6:17626110-17626110;G/A missense_variant False NUP153@p.S1412L 1 0.473684211 ENSG00000124789 chr6:17616635-17616635;G/A missense_variant False NUP153@p.S172C 1 0.129411765 ENSG00000124789 chr6:17675590-17675590;G/C missense_variant False NUP153@p.S516C 1 0.237288136 ENSG00000124789 chr6:17647892-17647892;G/C missense_variant False NUP155@p.A17V 1 0.171428571 ENSG00000113569 chr5:37370928-37370928;G/A missense_variant False NUP155@p.A8T 1 0.112903226 ENSG00000113569 chr5:37370956-37370956;C/T missense_variant False NUP155@p.E1388Q 1 0.054054054 ENSG00000113569 chr5:37291914-37291914;C/G missense_variant False NUP155@p.E142K 1 0.174193548 ENSG00000113569 chr5:37358120-37358120;C/T missense_variant False NUP155@p.E536K 1 0.288888889 ENSG00000113569 chr5:37331708-37331708;C/T missense_variant False NUP155@p.E694Q 1 0.545454545 ENSG00000113569 chr5:37325912-37325912;C/G missense_variant False NUMB@p.G80R 1 0.151111111 ENSG00000133961 chr14:73297282-73297282;C/T missense_variant False NUMA1@p.S1760C 1 0.085714286 ENSG00000137497 chr11:72007373-72007373;G/C missense_variant False NUDT6@p.E258K 1 0.101265823 ENSG00000170917 chr4:122893007-122893007;C/T missense_variant False NUDT9@p.R66W 1 0.192307692 ENSG00000170502 chr4:87435069-87435069;C/T missense_variant False NUFIP1@p.E379Q 1 0.338028169 ENSG00000083635 chr13:44949725-44949725;C/G missense_variant False NUFIP1@p.E345Q 1 0.326530612 ENSG00000083635 chr13:44949827-44949827;C/G missense_variant False NUFIP1@p.E235D 1 0.903846154 ENSG00000083635 chr13:44979219-44979219;T/G missense_variant False NUF2@p.N425T 1 0.264705882 ENSG00000143228 chr1:163355348-163355348;A/C missense_variant False NUF2@p.K309T 1 0.467741935 ENSG00000143228 chr1:163345796-163345796;A/C missense_variant False NUF2@p.E136K 1 0.11627907 ENSG00000143228 chr1:163336819-163336819;G/A missense_variant False NUDT9@p.H45Y 1 0.141176471 ENSG00000170502 chr4:87435006-87435006;C/T missense_variant False NUMA1@p.R72Q 1 0.40625 ENSG00000137497 chr11:72023141-72023141;C/T missense_variant False NUDT9@p.E333D 1 0.098522167 ENSG00000170502 chr4:87457967-87457967;G/C missense_variant False NUDT9@p.A20G 1 0.288461538 ENSG00000170502 chr4:87422964-87422964;C/G missense_variant False NUDT7@p.L120F 1 0.155339806 ENSG00000140876 chr16:77741593-77741593;G/C missense_variant False NUDT7@p.E62Q 1 0.416666667 ENSG00000140876 chr16:77725579-77725579;G/C missense_variant False NUDT7@p.E181Q 1 0.323076923 ENSG00000140876 chr16:77741774-77741774;G/C missense_variant False NUDT6@p.F238C 1 0.546391753 ENSG00000170917 chr4:122893066-122893066;A/C missense_variant False NUFIP1@p.S117L 1 0.428571429 ENSG00000083635 chr13:44989087-44989087;G/A missense_variant False NUFIP1@p.S124C 1 0.19047619 ENSG00000083635 chr13:44989066-44989066;G/C missense_variant False NUFIP2@p.K368T 1 0.469945355 ENSG00000108256 chr17:29286891-29286891;T/G missense_variant False NUFIP2@p.M457I 1 0.140350877 ENSG00000108256 chr17:29286623-29286623;C/T missense_variant False NUFIP2@p.S415C 1 0.088495575 ENSG00000108256 chr17:29286750-29286750;G/C missense_variant False NUGGC@p.E236K 1 0.454545455 ENSG00000189233 chr8:28067519-28067519;C/T missense_variant False NUGGC@p.F345L 1 0.318181818 ENSG00000189233 chr8:28060488-28060488;G/C missense_variant False NUGGC@p.F632V 1 0.039800995 ENSG00000189233 chr8:28031257-28031257;A/C missense_variant False NUMA1@p.A1487T 1 0.322580645 ENSG00000137497 chr11:72013044-72013044;C/T missense_variant False NUMA1@p.A2105V 1 0.31372549 ENSG00000137497 chr11:72003909-72003909;G/A missense_variant False NUMA1@p.E738Q 1 0.359477124 ENSG00000137497 chr11:72015291-72015291;C/G missense_variant False NUMA1@p.E79Q 1 0.236111111 ENSG00000137497 chr11:72023121-72023121;C/G missense_variant False NUMA1@p.E809K 1 0.154761905 ENSG00000137497 chr11:72015078-72015078;C/T missense_variant False NUMA1@p.G1894R 1 0.261682243 ENSG00000137497 chr11:72006047-72006047;C/T missense_variant False NUMA1@p.Q821H 1 0.107936508 ENSG00000137497 chr11:72015040-72015040;C/A missense_variant False NUMA1@p.R1967Q 1 0.36 ENSG00000137497 chr11:72004746-72004746;C/T missense_variant False NUMA1@p.R631W 1 0.213114754 ENSG00000137497 chr11:72015612-72015612;G/A missense_variant False NUP93@p.D519N 1 0.380952381 ENSG00000102900 chr16:56834145-56834145;G/A missense_variant False NUP93@p.E263Q 1 0.171875 ENSG00000102900 chr16:56823839-56823839;G/C missense_variant False OR8B4@p.S18L 1 0.293103448 ENSG00000280090 chr11:124424819-124424819;G/A missense_variant False OBSCN@p.H4609Y 1 0.283950617 ENSG00000154358 chr1:228317727-228317727;C/T missense_variant False OBSCN@p.P7055S 1 0.202247191 ENSG00000154358 chr1:228371941-228371941;C/T missense_variant False OBSCN@p.P6941L 1 0.294117647 ENSG00000154358 chr1:228371600-228371600;C/T missense_variant False OBSCN@p.P3478A 1 0.118644068 ENSG00000154358 chr1:228291990-228291990;C/G missense_variant False OBSCN@p.L3113F 1 0.224137931 ENSG00000154358 chr1:228286834-228286834;G/C missense_variant False OBSCN@p.I5321M 1 0.333333333 ENSG00000154358 chr1:228333689-228333689;C/G missense_variant False OBSCN@p.I5088M 1 0.647058824 ENSG00000154358 chr1:228322105-228322105;C/G missense_variant False OBSCN@p.G4039A 1 0.315789474 ENSG00000154358 chr1:228307090-228307090;G/C missense_variant False OBSCN@p.Q2271Cfs*68 1 0.382716049 ENSG00000154358 chr1:228277807-228277811;ATCCA/- frameshift_variant False OBSCN@p.G3836E 1 0.345454545 ENSG00000154358 chr1:228294891-228294891;G/A missense_variant False OBSCN@p.E874K 1 0.297297297 ENSG00000154358 chr1:228217255-228217255;G/A missense_variant False OBSCN@p.E5533Q 1 0.382352941 ENSG00000154358 chr1:228337063-228337063;G/C missense_variant False OBSCN@p.E5029K 1 0.267857143 ENSG00000154358 chr1:228321926-228321926;G/A missense_variant False OBSCN@p.E4580K 1 0.333333333 ENSG00000154358 chr1:228317640-228317640;G/A missense_variant False OBSCN@p.E4203K 1 0.396226415 ENSG00000154358 chr1:228308251-228308251;G/A missense_variant False OBSCN@p.Q1248E 1 0.252631579 ENSG00000154358 chr1:228245673-228245673;C/G missense_variant False OBSCN@p.Q5542R 1 0.86 ENSG00000154358 chr1:228337091-228337091;A/G missense_variant False NUP93@p.G591R 1 0.365384615 ENSG00000102900 chr16:56834767-56834767;G/A missense_variant False OBSCN@p.S640L 1 0.75 ENSG00000154358 chr1:228215653-228215653;C/T missense_variant False OBSCN@p.Y287C 1 0.462184874 ENSG00000154358 chr1:228212643-228212643;A/G missense_variant False OBSCN@p.Y1328N 1 0.302521008 ENSG00000154358 chr1:228246752-228246752;T/A missense_variant False OBSCN@p.V1879M 1 0.888888889 ENSG00000154358 chr1:228274396-228274396;G/A missense_variant False OBSCN@p.V1132M 1 0.157894737 ENSG00000154358 chr1:228244484-228244484;G/A missense_variant False OBSCN@p.T3292M 1 0.301775148 ENSG00000154358 chr1:228288124-228288124;C/T missense_variant False OBSCN@p.S6724C 1 0.416666667 ENSG00000154358 chr1:228370683-228370683;C/G missense_variant False OBSCN@p.S6387L 1 0.656862745 ENSG00000154358 chr1:228366170-228366170;C/T missense_variant False OBSCN@p.R1498K 1 0.057142857 ENSG00000154358 chr1:228256834-228256834;G/A missense_variant False OBSCN@p.S2958L 1 0.240740741 ENSG00000154358 chr1:228283638-228283638;C/T missense_variant False OBSCN@p.R946K 1 0.339622642 ENSG00000154358 chr1:228224642-228224642;G/A missense_variant False OBSCN@p.R55C 1 0.647058824 ENSG00000154358 chr1:228211946-228211946;C/T missense_variant False OBSCN@p.R4916W 1 0.408163265 ENSG00000154358 chr1:228321587-228321587;C/T missense_variant False OBSCN@p.R4012H 1 0.384615385 ENSG00000154358 chr1:228307009-228307009;G/A missense_variant False OBSCN@p.R3550T 1 0.171428571 ENSG00000154358 chr1:228292568-228292568;G/C missense_variant False OBSCN@p.E3992K 1 0.333333333 ENSG00000154358 chr1:228306948-228306948;G/A missense_variant False OBSCN@p.E3915K 1 0.390625 ENSG00000154358 chr1:228306455-228306455;G/A missense_variant False OBSCN@p.E3750Q 1 0.055248619 ENSG00000154358 chr1:228294268-228294268;G/C missense_variant False OAZ1@p.Y140C 1 0.384615385 ENSG00000104904 chr19:2271909-2271909;A/G missense_variant False OBSCN@p.A1056V 1 0.181818182 ENSG00000154358 chr1:228243420-228243420;C/T missense_variant False OBP2B@p.S133F 1 0.806451613 ENSG00000171102 chr9:133206407-133206407;G/A missense_variant False OBP2A@p.E103Q 1 0.435897436 ENSG00000122136 chr9:135547900-135547900;G/C missense_variant False OBI1@p.P462R 1 0.357142857 ENSG00000152193 chr13:78616376-78616376;G/C missense_variant False OBI1@p.I170V 1 0.37037037 ENSG00000152193 chr13:78638864-78638864;T/C missense_variant False OAZ3@p.F145S 1 0.129032258 ENSG00000143450 chr1:151768188-151768188;T/C missense_variant False OAZ1@p.P203S 1 0.346153846 ENSG00000104904 chr19:2273028-2273028;C/T missense_variant False OBSCN@p.E3727K 1 0.493975904 ENSG00000154358 chr1:228294199-228294199;G/A missense_variant False OAZ1@p.E219K 1 0.272727273 ENSG00000104904 chr19:2273076-2273076;G/A missense_variant False OASL@p.V65I 1 0.266666667 ENSG00000135114 chr12:121038779-121038779;C/T missense_variant False OASL@p.I450V 1 0.403846154 ENSG00000135114 chr12:121020758-121020758;T/C missense_variant False OASL@p.E269K 1 0.340206186 ENSG00000135114 chr12:121027670-121027670;C/T missense_variant False OASL@p.E252D 1 0.393939394 ENSG00000135114 chr12:121027719-121027719;C/G missense_variant False OAS3@p.R30Q 1 0.159090909 ENSG00000111331 chr12:112938619-112938619;G/A missense_variant False OBSCN@p.A1415P 1 0.092105263 ENSG00000154358 chr1:228250174-228250174;G/C missense_variant False OBSCN@p.A2567T 1 0.157894737 ENSG00000154358 chr1:228280214-228280214;G/A missense_variant False OBSCN@p.A4185G 1 0.210526316 ENSG00000154358 chr1:228308198-228308198;C/G missense_variant False OBSCN@p.A5046T 1 0.625 ENSG00000154358 chr1:228321977-228321977;G/A missense_variant False OBSCN@p.A7733T 1 0.642857143 ENSG00000154358 chr1:228377209-228377209;G/A missense_variant False OBSCN@p.D1324V 1 0.360824742 ENSG00000154358 chr1:228246741-228246741;A/T missense_variant False OBSCN@p.D2231Gfs*8 1 0.269230769 ENSG00000154358 chr1:228277248-228277249;-/G frameshift_variant False OBSCN@p.D3104Y 1 0.66 ENSG00000154358 chr1:228286805-228286805;G/T missense_variant False OBSCN@p.D3807Y 1 0.231578947 ENSG00000154358 chr1:228294803-228294803;G/T missense_variant False OBSCN@p.D4211Y 1 0.466666667 ENSG00000154358 chr1:228308275-228308275;G/T missense_variant False OBSCN@p.D5354N 1 0.333333333 ENSG00000154358 chr1:228334517-228334517;G/A missense_variant False OBSCN@p.D6602N 1 0.332103321 ENSG00000154358 chr1:228368758-228368758;G/A missense_variant False OBSCN@p.E1859K 1 0.345679012 ENSG00000154358 chr1:228274336-228274336;G/A missense_variant False OBSCN@p.E233K 1 0.75 ENSG00000154358 chr1:228212480-228212480;G/A missense_variant False OBSCN@p.E3310K 1 0.077464789 ENSG00000154358 chr1:228288177-228288177;G/A missense_variant False OBSCN@p.E3384K 1 0.157303371 ENSG00000154358 chr1:228288699-228288699;G/A missense_variant False OBSCN@p.E3398Q 1 0.184 ENSG00000154358 chr1:228288741-228288741;G/C missense_variant False OBSL1@p.A321V 1 0.2 ENSG00000124006 chr2:219570271-219570271;G/A missense_variant False OBSL1@p.E673K 1 0.222222222 ENSG00000124006 chr2:219566947-219566947;C/T missense_variant False OBSL1@p.L508F 1 0.254716981 ENSG00000124006 chr2:219567730-219567730;G/A missense_variant False ODF3L1@p.D153N 1 0.439285714 ENSG00000182950 chr15:75727172-75727172;G/A missense_variant False OFD1@p.E194Q 1 0.317647059 ENSG00000046651 chrX:13746381-13746381;G/C missense_variant False OFD1@p.A11V 1 0.142857143 ENSG00000046651 chrX:13735267-13735267;C/T missense_variant False ODR4@p.E216K 1 0.5 ENSG00000157181 chr1:186391726-186391726;G/A missense_variant False ODF4@p.I191T 1 0.725806452 ENSG00000184650 chr17:8345460-8345460;T/C missense_variant False ODF3L2@p.S265L 1 0.260869565 ENSG00000181781 chr19:463920-463920;G/A missense_variant False ODF3L1@p.N155S 1 0.330708661 ENSG00000182950 chr15:75727179-75727179;A/G missense_variant False ODF3L1@p.A14T 1 0.368421053 ENSG00000182950 chr15:75724239-75724239;G/A missense_variant False ODF1@p.Q138E 1 0.695454545 ENSG00000155087 chr8:102560543-102560543;C/G missense_variant False ODF2L@p.M223T 1 0.3 ENSG00000122417 chr1:86376375-86376375;A/G missense_variant False ODF2@p.S4L 1 0.454545455 ENSG00000136811 chr9:128457416-128457416;C/T missense_variant False ODF2@p.L664V 1 0.227272727 ENSG00000136811 chr9:128496119-128496119;C/G missense_variant False ODF2@p.L603Q 1 0.3125 ENSG00000136811 chr9:128494565-128494565;T/A missense_variant False ODF2@p.E581D 1 0.263157895 ENSG00000136811 chr9:128492796-128492796;G/C missense_variant False ODF2@p.D488Y 1 0.653061224 ENSG00000136811 chr9:128487951-128487951;G/T missense_variant False OFD1@p.E239D 1 0.14953271 ENSG00000046651 chrX:13746842-13746842;A/T missense_variant False OFD1@p.E65K 1 0.482300885 ENSG00000046651 chrX:13736559-13736559;G/A missense_variant False OFD1@p.L123V 1 0.927710843 ENSG00000046651 chrX:13738900-13738900;C/G missense_variant False OFD1@p.Q398P 1 0.764705882 ENSG00000046651 chrX:13755214-13755214;A/C missense_variant False OFD1@p.R270I 1 0.9 ENSG00000046651 chrX:13746934-13746934;G/T missense_variant False OFD1@p.R799G 1 0.285714286 ENSG00000046651 chrX:13762351-13762351;C/G missense_variant False OGA@p.D502N 1 0.256997455 ENSG00000198408 chr10:101799147-101799147;C/T missense_variant False OGA@p.E210K 1 0.133757962 ENSG00000198408 chr10:101807754-101807754;C/T missense_variant False OGA@p.F835S 1 0.064516129 ENSG00000198408 chr10:101787474-101787474;A/G missense_variant False OGA@p.G244A 1 0.127659574 ENSG00000198408 chr10:101806065-101806065;C/G missense_variant False OGA@p.G623A 1 0.320754717 ENSG00000198408 chr10:101798096-101798096;C/G missense_variant False OGA@p.G752R 1 0.142857143 ENSG00000198408 chr10:101791361-101791361;C/G missense_variant False OGA@p.L10F 1 0.333333333 ENSG00000198408 chr10:101817993-101817993;C/A missense_variant False OGA@p.L359I 1 0.308823529 ENSG00000198408 chr10:101800362-101800362;A/T missense_variant False OGDH@p.D596H 1 0.297297297 ENSG00000105953 chr7:44696443-44696443;G/C missense_variant False OGDH@p.D612Y 1 0.169230769 ENSG00000105953 chr7:44696491-44696491;G/T missense_variant False OGDH@p.D939N 1 0.301886792 ENSG00000105953 chr7:44707600-44707600;G/A missense_variant False ODF1@p.S200C 1 0.6375 ENSG00000155087 chr8:102560730-102560730;C/G missense_variant False ODF1@p.E30K 1 0.407821229 ENSG00000155087 chr8:102551815-102551815;G/A missense_variant False OBSL1@p.N366S 1 0.176470588 ENSG00000124006 chr2:219568240-219568240;T/C missense_variant False OCA2@p.P47L 1 0.363636364 ENSG00000104044 chr15:28081735-28081735;G/A missense_variant False OCA2@p.V341I 1 0.183673469 ENSG00000104044 chr15:28014799-28014799;C/T missense_variant False OCA2@p.T450M 1 0.5 ENSG00000104044 chr15:27985079-27985079;G/A missense_variant False OCA2@p.S79Y 1 0.260504202 ENSG00000104044 chr15:28032155-28032155;G/T missense_variant False OCA2@p.S148C 1 0.308823529 ENSG00000104044 chr15:28027943-28027943;G/C missense_variant False OCA2@p.R573C 1 0.277777778 ENSG00000104044 chr15:27957655-27957655;G/A missense_variant False OCA2@p.R566C 1 0.407407407 ENSG00000104044 chr15:27957676-27957676;G/A missense_variant False OCA2@p.E284K 1 0.081632653 ENSG00000104044 chr15:28016144-28016144;C/T missense_variant False ODF1@p.E21Q 1 0.193548387 ENSG00000155087 chr8:102551788-102551788;G/C missense_variant False OCA2@p.D758N 1 0.409090909 ENSG00000104044 chr15:27851448-27851448;C/T missense_variant False OCA2@p.D669N 1 0.247863248 ENSG00000104044 chr15:27926201-27926201;C/T missense_variant False OCA2@p.C410R 1 0.747747748 ENSG00000104044 chr15:27986598-27986598;A/G missense_variant False OCA2@p.A14T 1 0.288461538 ENSG00000104044 chr15:28081835-28081835;C/T missense_variant False OBSL1@p.R924W 1 0.225806452 ENSG00000124006 chr2:219562585-219562585;G/A missense_variant False OBSL1@p.R669W 1 0.36 ENSG00000124006 chr2:219566959-219566959;G/A missense_variant False OCEL1@p.D118N 1 0.216494845 ENSG00000099330 chr19:17227099-17227099;G/A missense_variant False OCIAD1@p.T198R 1 0.5 ENSG00000109180 chr4:48857258-48857258;C/G missense_variant False OCLN@p.G108E 1 0.156521739 ENSG00000197822 chr5:69509413-69509413;G/A missense_variant False OCLN@p.S204C 1 0.347826087 ENSG00000197822 chr5:69509701-69509701;C/G missense_variant False OCLN@p.S40C 1 0.294573643 ENSG00000197822 chr5:69509209-69509209;C/G missense_variant False OCLN@p.Y193C 1 0.066666667 ENSG00000197822 chr5:69509668-69509668;A/G missense_variant False OCRL@p.F794L 1 0.35 ENSG00000122126 chrX:129588926-129588926;C/A missense_variant False OCRL@p.N834I 1 0.519736842 ENSG00000122126 chrX:129589876-129589876;A/T missense_variant False ODAM@p.D109N 1 0.307692308 ENSG00000109205 chr4:70198107-70198107;G/A missense_variant False ODAM@p.Q226R 1 0.375 ENSG00000109205 chr4:70202784-70202784;A/G missense_variant False ODAM@p.S76C 1 0.206030151 ENSG00000109205 chr4:70198009-70198009;C/G missense_variant False ODAPH@p.E26G 1 0.147368421 ENSG00000174792 chr4:75564123-75564123;A/G missense_variant False ODAPH@p.T47S 1 0.688311688 ENSG00000174792 chr4:75564185-75564185;A/T missense_variant False ODC1@p.R277T 1 0.1 ENSG00000115758 chr2:10442095-10442095;C/G missense_variant False ODC1@p.S303C 1 0.084745763 ENSG00000115758 chr2:10442017-10442017;G/C missense_variant False ODC1@p.Y323C 1 0.171945701 ENSG00000115758 chr2:10441875-10441875;T/C missense_variant False ODF1@p.C27F 1 0.209809264 ENSG00000155087 chr8:102551807-102551807;G/T missense_variant False OAS3@p.L626V 1 0.151898734 ENSG00000111331 chr12:112962694-112962694;C/G missense_variant False OAS3@p.L545V 1 0.296875 ENSG00000111331 chr12:112950951-112950951;C/G missense_variant False OAS3@p.H451Y 1 0.452830189 ENSG00000111331 chr12:112949182-112949182;C/T missense_variant False NWD1@p.D1124N 1 0.087248322 ENSG00000188039 chr19:16797797-16797797;G/A missense_variant False NWD1@p.R1498Q 1 0.4 ENSG00000188039 chr19:16815127-16815127;G/A missense_variant False NWD1@p.L701V 1 0.310344828 ENSG00000188039 chr19:16762106-16762106;C/G missense_variant False NWD1@p.L1164P 1 0.064102564 ENSG00000188039 chr19:16799917-16799917;T/C missense_variant False NWD1@p.H1039R 1 0.272727273 ENSG00000188039 chr19:16791525-16791525;A/G missense_variant False NWD1@p.G1277E 1 0.539325843 ENSG00000188039 chr19:16807679-16807679;G/A missense_variant False NWD1@p.D606Y 1 0.128571429 ENSG00000188039 chr19:16759271-16759271;G/T missense_variant False NWD1@p.A1301T 1 0.396694215 ENSG00000188039 chr19:16807750-16807750;G/A missense_variant False NUTM2A@p.L186M 1 0.319727891 ENSG00000184923 chr10:87228436-87228436;C/A missense_variant False NVL@p.S339F 1 0.432432432 ENSG00000143748 chr1:224300608-224300608;G/A missense_variant False NVL@p.G337V 1 0.307692308 ENSG00000143748 chr1:224300614-224300614;C/A missense_variant False NVL@p.E817Q 1 0.222222222 ENSG00000143748 chr1:224233207-224233207;C/G missense_variant False NVL@p.E587Q 1 0.1125 ENSG00000143748 chr1:224287810-224287810;C/G missense_variant False NVL@p.E145Kfs*9 1 0.127118644 ENSG00000143748 chr1:224308174-224308174;T/- frameshift_variant False NVL@p.D271N 1 0.174377224 ENSG00000143748 chr1:224304750-224304750;C/T missense_variant False NWD1@p.R243H 1 0.402597403 ENSG00000188039 chr19:16749370-16749370;G/A missense_variant False NWD1@p.S927C 1 0.101694915 ENSG00000188039 chr19:16789030-16789030;C/G missense_variant False NWD1@p.T1272M 1 0.271186441 ENSG00000188039 chr19:16807664-16807664;C/T missense_variant False NWD1@p.V1279A 1 0.145833333 ENSG00000188039 chr19:16807685-16807685;T/C missense_variant False NXF1@p.F161L 1 0.151724138 ENSG00000162231 chr11:62802017-62802017;G/C missense_variant False NXF1@p.F603V 1 0.423076923 ENSG00000162231 chr11:62792655-62792655;A/C missense_variant False NXF1@p.G5A 1 0.3 ENSG00000162231 chr11:62805343-62805343;C/G missense_variant False NXF1@p.H605D 1 0.212765957 ENSG00000162231 chr11:62792649-62792649;G/C missense_variant False NXF1@p.M216I 1 0.212962963 ENSG00000162231 chr11:62801623-62801623;C/G missense_variant False NXF1@p.N426K 1 0.091603053 ENSG00000162231 chr11:62796468-62796468;G/C missense_variant False NXF1@p.N593del 1 0.253164557 ENSG00000162231 chr11:62792683-62792685;GTT/- inframe_deletion False NXF1@p.R21T 1 0.330508475 ENSG00000162231 chr11:62803945-62803945;C/G missense_variant False NXF1@p.V16I 1 0.3125 ENSG00000162231 chr11:62803961-62803961;C/T missense_variant False NXF1@p.V536L 1 0.160714286 ENSG00000162231 chr11:62794412-62794412;C/G missense_variant False NXF3@p.D281E 1 0.12849162 ENSG00000147206 chrX:103082302-103082302;G/C missense_variant False NXF3@p.E371Q 1 0.14084507 ENSG00000147206 chrX:103079812-103079812;C/G missense_variant False NXF3@p.F394L 1 0.165354331 ENSG00000147206 chrX:103079621-103079621;G/C missense_variant False NUTM2G@p.S234Y 1 0.077868852 ENSG00000188152 chr9:96932406-96932406;C/A missense_variant False NUTM1@p.S965F 1 0.41509434 ENSG00000184507 chr15:34356986-34356986;C/T missense_variant False NXF3@p.R225S 1 0.212244898 ENSG00000147206 chrX:103083020-103083020;T/A missense_variant False NUP98@p.R1012G 1 0.444444444 ENSG00000110713 chr11:3705299-3705299;G/C missense_variant False NUS1@p.R282C 1 0.409836066 ENSG00000153989 chr6:117706977-117706977;C/T missense_variant False NUP98@p.W1280L 1 0.484210526 ENSG00000110713 chr11:3699303-3699303;C/A missense_variant False NUP98@p.V486L 1 0.24137931 ENSG00000110713 chr11:3744512-3744512;C/A missense_variant False NUP98@p.S975F 1 0.265486726 ENSG00000110713 chr11:3706497-3706497;G/A missense_variant False NUP98@p.S913R 1 0.658536585 ENSG00000110713 chr11:3712618-3712618;G/C missense_variant False NUP98@p.S726C 1 0.37 ENSG00000110713 chr11:3723177-3723177;G/C missense_variant False NUP98@p.L1358R 1 0.557692308 ENSG00000110713 chr11:3695594-3695594;A/C missense_variant False NUTM1@p.R246C 1 0.266666667 ENSG00000184507 chr15:34350714-34350714;C/T missense_variant False NUP98@p.K175N 1 0.351351351 ENSG00000110713 chr11:3773710-3773710;T/G missense_variant False NUP98@p.K1019Vfs*18 1 0.194029851 ENSG00000110713 chr11:3705255-3705279;GATTTCTTGAGAAGTATCTGCTTTG/- frameshift_variant False NUP98@p.G850R 1 0.375 ENSG00000110713 chr11:3713898-3713898;C/T missense_variant False NUP98@p.D617N 1 0.108108108 ENSG00000110713 chr11:3725152-3725152;C/T missense_variant False NUP98@p.A499T 1 0.268292683 ENSG00000110713 chr11:3735289-3735289;C/T missense_variant False NUP93@p.S687F 1 0.338403042 ENSG00000102900 chr16:56838993-56838993;C/T missense_variant False NUSAP1@p.D167Y 1 0.214285714 ENSG00000137804 chr15:41356089-41356089;G/T missense_variant False NUSAP1@p.D359H 1 0.077922078 ENSG00000137804 chr15:41375780-41375780;G/C missense_variant False NUSAP1@p.E78Q 1 0.238095238 ENSG00000137804 chr15:41349167-41349167;G/C missense_variant False NUSAP1@p.E7Q 1 0.2 ENSG00000137804 chr15:41332976-41332976;G/C missense_variant False NUSAP1@p.P232A 1 0.307692308 ENSG00000137804 chr15:41365435-41365435;C/G missense_variant False NUSAP1@p.R236T 1 0.538461538 ENSG00000137804 chr15:41365448-41365448;G/C missense_variant False NUSAP1@p.S276C 1 0.533333333 ENSG00000137804 chr15:41365568-41365568;C/G missense_variant False NUTM1@p.D505N 1 0.112359551 ENSG00000184507 chr15:34355605-34355605;G/A missense_variant False NUTM1@p.D848N 1 0.2 ENSG00000184507 chr15:34356634-34356634;G/A missense_variant False NUTM1@p.E456K 1 0.114285714 ENSG00000184507 chr15:34355108-34355108;G/A missense_variant False NUTM1@p.G1045del 1 0.162790698 ENSG00000184507 chr15:34357221-34357223;AGG/- inframe_deletion False NUTM1@p.I172S 1 0.166666667 ENSG00000184507 chr15:34348467-34348467;T/G missense_variant False NUTM1@p.L237V 1 0.15 ENSG00000184507 chr15:34348661-34348661;C/G missense_variant False NUTM1@p.P174L 1 0.117647059 ENSG00000184507 chr15:34348473-34348473;C/T missense_variant False NUTM1@p.P948H 1 0.387096774 ENSG00000184507 chr15:34356935-34356935;C/A missense_variant False NUTM1@p.Q297K 1 0.425 ENSG00000184507 chr15:34353770-34353770;C/A missense_variant False NUTM1@p.R226K 1 0.465753425 ENSG00000184507 chr15:34348629-34348629;G/A missense_variant False NXF3@p.K127N 1 0.106382979 ENSG00000147206 chrX:103083663-103083663;C/A missense_variant False NXF3@p.S293C 1 0.371428571 ENSG00000147206 chrX:103082267-103082267;G/C missense_variant False OAS3@p.G251S 1 0.158730159 ENSG00000111331 chr12:112946857-112946857;G/A missense_variant False NYNRIN@p.S339L 1 0.230769231 ENSG00000205978 chr14:24408810-24408810;C/T missense_variant False OAF@p.E91Q 1 0.684210526 ENSG00000184232 chr11:120225700-120225700;G/C missense_variant False OAF@p.E45K 1 0.1875 ENSG00000184232 chr11:120211412-120211412;G/A missense_variant False OAF@p.E110Q 1 0.330578512 ENSG00000184232 chr11:120225757-120225757;G/C missense_variant False NYX@p.V293M 1 0.164556962 ENSG00000188937 chrX:41474330-41474330;G/A missense_variant False NYX@p.A187V 1 0.555555556 ENSG00000188937 chrX:41474013-41474013;C/T missense_variant False NYNRIN@p.V971I 1 0.4 ENSG00000205978 chr14:24414660-24414660;G/A missense_variant False NYNRIN@p.S216F 1 0.325 ENSG00000205978 chr14:24408317-24408317;C/T missense_variant False NYNRIN@p.E1678K 1 0.2 ENSG00000205978 chr14:24416781-24416781;G/A missense_variant False NYNRIN@p.S1423F 1 0.23255814 ENSG00000205978 chr14:24416017-24416017;C/T missense_variant False NYNRIN@p.S1302A 1 0.41322314 ENSG00000205978 chr14:24415653-24415653;T/G missense_variant False NYNRIN@p.S1147F 1 0.217391304 ENSG00000205978 chr14:24415189-24415189;C/T missense_variant False NYNRIN@p.R1283H 1 0.253164557 ENSG00000205978 chr14:24415597-24415597;G/A missense_variant False NYNRIN@p.N132I 1 0.296296296 ENSG00000205978 chr14:24408065-24408065;A/T missense_variant False NYNRIN@p.L397V 1 0.25 ENSG00000205978 chr14:24408983-24408983;C/G missense_variant False OARD1@p.E141Q 1 0.38028169 ENSG00000124596 chr6:41067373-41067373;C/G missense_variant False OARD1@p.K98N 1 0.382022472 ENSG00000124596 chr6:41068903-41068903;C/G missense_variant False OAS1@p.E322Q 1 0.12345679 ENSG00000089127 chr12:112917626-112917626;G/C missense_variant False OAS1@p.E393Q 1 0.229166667 ENSG00000089127 chr12:112919527-112919527;G/C missense_variant False OAS1@p.E97K 1 0.125 ENSG00000089127 chr12:112908644-112908644;G/A missense_variant False OAS1@p.H378Y 1 0.454545455 ENSG00000089127 chr12:112919482-112919482;C/T missense_variant False OAS1@p.T292M 1 0.257142857 ENSG00000089127 chr12:112916729-112916729;C/T missense_variant False OAS2@p.D35E 1 0.351351351 ENSG00000111335 chr12:112978713-112978713;C/G missense_variant False OAS2@p.D671N 1 0.105263158 ENSG00000111335 chr12:113009202-113009202;G/A missense_variant False OAS2@p.F351L 1 0.475728155 ENSG00000111335 chr12:113002976-113002976;C/A missense_variant False OAS2@p.F382L 1 0.12 ENSG00000111335 chr12:113003069-113003069;C/G missense_variant False OAS2@p.N380K 1 0.112288136 ENSG00000111335 chr12:113003063-113003063;C/A missense_variant False OAS2@p.Q130Rfs*20 1 0.208333333 ENSG00000111335 chr12:112987247-112987247;C/- frameshift_variant False OAS2@p.S534Y 1 0.335078534 ENSG00000111335 chr12:113006545-113006545;C/A missense_variant False OAS2@p.S562C 1 0.149606299 ENSG00000111335 chr12:113007733-113007733;C/G missense_variant False OAS2@p.S704L 1 0.337662338 ENSG00000111335 chr12:113010435-113010435;C/T missense_variant False OAS2@p.T422N 1 0.351851852 ENSG00000111335 chr12:113005019-113005019;C/A missense_variant False NYNRIN@p.E415K 1 0.210526316 ENSG00000205978 chr14:24409037-24409037;G/A missense_variant False NYNRIN@p.D504H 1 0.0625 ENSG00000205978 chr14:24409304-24409304;G/C missense_variant False NXN@p.F247L 1 0.239130435 ENSG00000167693 chr17:819518-819518;G/T missense_variant False NXPE4@p.D489E 1 0.306122449 ENSG00000137634 chr11:114571106-114571106;G/T missense_variant False NXPH1@p.T208K 1 0.357142857 ENSG00000122584 chr7:8751576-8751576;C/A missense_variant False NXPH1@p.L209P 1 0.123595506 ENSG00000122584 chr7:8751579-8751579;T/C missense_variant False NXPH1@p.G113D 1 0.311111111 ENSG00000122584 chr7:8751291-8751291;G/A missense_variant False NXPH1@p.F153L 1 0.294117647 ENSG00000122584 chr7:8751412-8751412;C/G missense_variant False NXPH1@p.D123N 1 0.208333333 ENSG00000122584 chr7:8751320-8751320;G/A missense_variant False NXPE4@p.E479D 1 0.214285714 ENSG00000137634 chr11:114571136-114571136;C/G missense_variant False NXPE3@p.V188F 1 0.34375 ENSG00000144815 chr3:101801703-101801703;G/T missense_variant False NYNRIN@p.D497N 1 0.224489796 ENSG00000205978 chr14:24409283-24409283;G/A missense_variant False NXPE3@p.S100N 1 0.12745098 ENSG00000144815 chr3:101801440-101801440;G/A missense_variant False NXPE3@p.R215H 1 0.34939759 ENSG00000144815 chr3:101801785-101801785;G/A missense_variant False NXPE3@p.K398R 1 0.315789474 ENSG00000144815 chr3:101821467-101821467;A/G missense_variant False NXNL2@p.F65L 1 0.466666667 ENSG00000130045 chr9:88535629-88535629;C/A missense_variant False NXNL1@p.S6P 1 0.216216216 ENSG00000171773 chr19:17460854-17460854;A/G missense_variant False NXNL1@p.F100L 1 0.5 ENSG00000171773 chr19:17460570-17460570;G/T missense_variant False NXPH2@p.D195Y 1 0.173913043 ENSG00000144227 chr2:138671134-138671134;C/A missense_variant False NXPH2@p.K229R 1 0.55 ENSG00000144227 chr2:138671031-138671031;T/C missense_variant False NXPH2@p.V48L 1 0.191176471 ENSG00000144227 chr2:138671575-138671575;C/A missense_variant False NXPH3@p.A70T 1 0.424528302 ENSG00000182575 chr17:49578749-49578749;G/A missense_variant False NXPH4@p.P175H 1 0.50955414 ENSG00000182379 chr12:57225344-57225344;C/A missense_variant False NXPH4@p.Q292H 1 0.444444444 ENSG00000182379 chr12:57225696-57225696;G/C missense_variant False NXT2@p.E19K 1 0.377358491 ENSG00000101888 chrX:109538084-109538084;G/A missense_variant False NYAP1@p.D596Y 1 0.336134454 ENSG00000166924 chr7:100489507-100489507;G/T missense_variant False NYAP1@p.E616Q 1 0.216216216 ENSG00000166924 chr7:100489567-100489567;G/C missense_variant False NYAP1@p.G99D 1 0.428571429 ENSG00000166924 chr7:100487048-100487048;G/A missense_variant False NYAP1@p.R166Q 1 0.092592593 ENSG00000166924 chr7:100488218-100488218;G/A missense_variant False NYAP1@p.R419Q 1 0.184210526 ENSG00000166924 chr7:100488977-100488977;G/A missense_variant False NYAP1@p.S87L 1 0.166666667 ENSG00000166924 chr7:100487012-100487012;C/T missense_variant False NYAP2@p.G402R 1 0.5 ENSG00000144460 chr2:225582621-225582621;G/C missense_variant False NYAP2@p.R503W 1 0.21875 ENSG00000144460 chr2:225582924-225582924;C/T missense_variant False NYNRIN@p.D1055H 1 0.41025641 ENSG00000205978 chr14:24414912-24414912;G/C missense_variant False NYNRIN@p.D1127N 1 0.481481481 ENSG00000205978 chr14:24415128-24415128;G/A missense_variant False NTRK2@p.N188T 1 0.123076923 ENSG00000148053 chr9:84710771-84710771;A/C missense_variant False NTRK2@p.M620I 1 0.133333333 ENSG00000148053 chr9:84948605-84948605;G/A missense_variant False NTRK2@p.I396Kfs*41 1 0.571428571 ENSG00000148053 chr9:84741916-84741922;TAATTTA/- frameshift_variant False NR1H4@p.P65S 1 0.106060606 ENSG00000012504 chr12:100510861-100510861;C/T missense_variant False NR1I2@p.M69I 1 0.288888889 ENSG00000144852 chr3:119810070-119810070;G/A missense_variant False NR1I2@p.L397I 1 0.319727891 ENSG00000144852 chr3:119817096-119817096;C/A missense_variant False NR1I2@p.K89N 1 0.327272727 ENSG00000144852 chr3:119810130-119810130;G/C missense_variant False NR1I2@p.I431M 1 0.340909091 ENSG00000144852 chr3:119817200-119817200;C/G missense_variant False NR1H4@p.Y411H 1 0.467741935 ENSG00000012504 chr12:100563259-100563259;T/C missense_variant False NR1H4@p.S92C 1 0.083333333 ENSG00000012504 chr12:100510943-100510943;C/G missense_variant False NR1H3@p.F340L 1 0.448275862 ENSG00000025434 chr11:47267944-47267944;C/G missense_variant False NR1I3@p.D189N 1 0.060422961 ENSG00000143257 chr1:161231458-161231458;C/T missense_variant False NR1H3@p.F335L 1 0.461538462 ENSG00000025434 chr11:47267929-47267929;C/A missense_variant False NR1H3@p.A28T 1 0.243243243 ENSG00000025434 chr11:47259829-47259829;G/A missense_variant False NR1H2@p.I326M 1 0.233333333 ENSG00000131408 chr19:50379830-50379830;C/G missense_variant False NR1H2@p.E32K 1 0.164179104 ENSG00000131408 chr19:50377783-50377783;G/A missense_variant False NR1H2@p.E162K 1 0.173228346 ENSG00000131408 chr19:50378533-50378533;G/A missense_variant False NR1D2@p.S241F 1 0.294117647 ENSG00000174738 chr3:23962181-23962181;C/T missense_variant False NR1I3@p.C63Y 1 0.141304348 ENSG00000143257 chr1:161235897-161235897;C/T missense_variant False NR1I3@p.R254Q 1 0.375 ENSG00000143257 chr1:161231179-161231179;C/T missense_variant False NTRK2@p.E210V 1 0.209677419 ENSG00000148053 chr9:84723618-84723618;A/T missense_variant False NR2F1@p.D337N 1 0.213793103 ENSG00000175745 chr5:93593579-93593579;G/A missense_variant False NR2F2@p.E300K 1 0.230769231 ENSG00000185551 chr15:96334531-96334531;G/A missense_variant False NR2F2@p.A412T 1 0.25 ENSG00000185551 chr15:96337611-96337611;G/A missense_variant False NR2F2@p.A273S 1 0.408602151 ENSG00000185551 chr15:96334450-96334450;G/T missense_variant False NR2F1@p.Q139H 1 0.228571429 ENSG00000175745 chr5:93585440-93585440;A/C missense_variant False NR2F1@p.I245V 1 0.179856115 ENSG00000175745 chr5:93588186-93588186;A/G missense_variant False NR2F1@p.G181C 1 0.247058824 ENSG00000175745 chr5:93587994-93587994;G/T missense_variant False NR2E3@p.S211F 1 0.263888889 ENSG00000278570 chr15:71812396-71812396;C/T missense_variant False NR2C1@p.D118N 1 0.342857143 ENSG00000120798 chr12:95059918-95059918;C/T missense_variant False NR2C2@p.S389F 1 0.25862069 ENSG00000177463 chr3:15032434-15032434;C/T missense_variant False NR2C2@p.S342N 1 0.18974359 ENSG00000177463 chr3:15030367-15030367;G/A missense_variant False NR2C2@p.R218K 1 0.431818182 ENSG00000177463 chr3:15023296-15023296;G/A missense_variant False NR2C2@p.K175E 1 0.253731343 ENSG00000177463 chr3:15020899-15020899;A/G missense_variant False NR2C1@p.H245Y 1 0.461538462 ENSG00000120798 chr12:95057603-95057603;G/A missense_variant False NR2C1@p.D226Vfs*10 1 0.111111111 ENSG00000120798 chr12:95057743-95057746;CTAT/- frameshift_variant False NR1D2@p.R562L 1 0.306358382 ENSG00000174738 chr3:23977364-23977364;G/T missense_variant False NR1D2@p.Q365H 1 0.12195122 ENSG00000174738 chr3:23962554-23962554;G/C missense_variant False NR1D2@p.Q269E 1 0.194444444 ENSG00000174738 chr3:23962264-23962264;C/G missense_variant False NPY2R@p.A177V 1 0.375 ENSG00000185149 chr4:155214469-155214469;C/T missense_variant False NPY5R@p.R369K 1 0.272727273 ENSG00000164129 chr4:163351379-163351379;G/A missense_variant False NPY5R@p.M67V 1 0.298429319 ENSG00000164129 chr4:163350472-163350472;A/G missense_variant False NPY5R@p.G332E 1 0.189189189 ENSG00000164129 chr4:163351268-163351268;G/A missense_variant False NPY2R@p.V33A 1 0.457627119 ENSG00000185149 chr4:155214037-155214037;T/C missense_variant False NPY2R@p.L53I 1 0.423076923 ENSG00000185149 chr4:155214096-155214096;C/A missense_variant False NPY2R@p.E343Q 1 0.574257426 ENSG00000185149 chr4:155214966-155214966;G/C missense_variant False NPY1R@p.R343G 1 0.263157895 ENSG00000164128 chr4:163325431-163325431;G/C missense_variant False NR1D2@p.P579R 1 0.257142857 ENSG00000174738 chr3:23977415-23977415;C/G missense_variant False NPY1R@p.P117S 1 0.385321101 ENSG00000164128 chr4:163326206-163326206;G/A missense_variant False NPY1R@p.L61F 1 0.295081967 ENSG00000164128 chr4:163326372-163326372;C/G missense_variant False NPY1R@p.L279V 1 0.253968254 ENSG00000164128 chr4:163325623-163325623;G/C missense_variant False NPTXR@p.T155I 1 0.166666667 ENSG00000221890 chr22:38843395-38843395;G/A missense_variant False NPTX2@p.E246K 1 0.165644172 ENSG00000106236 chr7:98625014-98625014;G/A missense_variant False NPTX1@p.G225V 1 0.25862069 ENSG00000171246 chr17:80473423-80473423;C/A missense_variant False NPY5R@p.S134L 1 0.206896552 ENSG00000164129 chr4:163350674-163350674;C/T missense_variant False NPY5R@p.S95L 1 0.050251256 ENSG00000164129 chr4:163350557-163350557;C/T missense_variant False NPY@p.L7M 1 0.088888889 ENSG00000122585 chr7:24285259-24285259;C/A missense_variant False NQO2@p.M45V 1 0.228571429 ENSG00000124588 chr6:3010150-3010150;A/G missense_variant False NQO2@p.P63H 1 0.571428571 ENSG00000124588 chr6:3012559-3012559;C/A missense_variant False NR0B1@p.E137K 1 0.162790698 ENSG00000169297 chrX:30308955-30308955;C/T missense_variant False NR0B1@p.I439M 1 0.092105263 ENSG00000169297 chrX:30304675-30304675;G/C missense_variant False NR0B1@p.P121R 1 0.285714286 ENSG00000169297 chrX:30309002-30309002;G/C missense_variant False NR0B1@p.W105C 1 0.263157895 ENSG00000169297 chrX:30309049-30309049;C/G missense_variant False NR0B2@p.L218F 1 0.201680672 ENSG00000131910 chr1:26911967-26911967;G/A missense_variant False NR0B2@p.R36C 1 0.333333333 ENSG00000131910 chr1:26913835-26913835;G/A missense_variant False NR1D1@p.E30Q 1 0.416666667 ENSG00000126368 chr17:40097347-40097347;C/G missense_variant False NR1D1@p.R500H 1 0.091269841 ENSG00000126368 chr17:40094058-40094058;C/T missense_variant False NR1D2@p.F126L 1 0.585365854 ENSG00000174738 chr3:23959676-23959676;C/G missense_variant False NR1D2@p.H114P 1 0.220338983 ENSG00000174738 chr3:23956094-23956094;A/C missense_variant False NR1D2@p.K576Q 1 0.521008403 ENSG00000174738 chr3:23977405-23977405;A/C missense_variant False NR1D2@p.M541I 1 0.162162162 ENSG00000174738 chr3:23977302-23977302;G/A missense_variant False NR2F2@p.S374C 1 0.307189542 ENSG00000185551 chr15:96337498-96337498;C/G missense_variant False NR2F6@p.F311L 1 0.6 ENSG00000160113 chr19:17235506-17235506;G/T missense_variant False NR3C1@p.D101H 1 0.464285714 ENSG00000113580 chr5:143400539-143400539;C/G missense_variant False NRBF2@p.I71M 1 0.576923077 ENSG00000148572 chr10:63153567-63153567;C/G missense_variant False NRBP1@p.S102C 1 0.360824742 ENSG00000115216 chr2:27433767-27433767;C/G missense_variant False NRBP1@p.R319T 1 0.167741935 ENSG00000115216 chr2:27439818-27439818;G/C missense_variant False NRBP1@p.Q384E 1 0.166666667 ENSG00000115216 chr2:27440659-27440659;C/G missense_variant False NRBP1@p.E438K 1 0.063063063 ENSG00000115216 chr2:27440923-27440923;G/A missense_variant False NRBP1@p.E236Q 1 0.166666667 ENSG00000115216 chr2:27436797-27436797;G/C missense_variant False NRBF2@p.P138S 1 0.326530612 ENSG00000148572 chr10:63153766-63153766;C/T missense_variant False NRBF2@p.E235Q 1 0.1 ENSG00000148572 chr10:63154057-63154057;G/C missense_variant False NRAP@p.R1540Q 1 0.35 ENSG00000197893 chr10:113592219-113592219;C/T missense_variant False NRAS@p.Q61K 1 0.491803279 ENSG00000213281 chr1:114713909-114713909;G/T missense_variant True NRAS@p.M111V 1 0.568627451 ENSG00000213281 chr1:114709688-114709688;T/C missense_variant True NRAS@p.G13R 1 0.089430894 ENSG00000213281 chr1:114716124-114716124;C/G missense_variant True NRAS@p.E49K 1 0.233009709 ENSG00000213281 chr1:114713945-114713945;C/T missense_variant True NRAS@p.D92N 1 0.248587571 ENSG00000213281 chr1:114713816-114713816;C/T missense_variant True NRARP@p.E20K 1 0.107142857 ENSG00000198435 chr9:137301871-137301871;C/T missense_variant False NRBP1@p.S332L 1 0.309352518 ENSG00000115216 chr2:27439857-27439857;C/T missense_variant False NRCAM@p.D1257H 1 0.328947368 ENSG00000091129 chr7:108150056-108150056;C/G missense_variant False NRCAM@p.D572N 1 0.175824176 ENSG00000091129 chr7:108194088-108194088;C/T missense_variant False NRCAM@p.E115Q 1 0.251748252 ENSG00000091129 chr7:108232410-108232410;C/G missense_variant False NRCAM@p.E1281D 1 0.23125 ENSG00000091129 chr7:108149982-108149982;C/G missense_variant False NRCAM@p.E832K 1 0.265625 ENSG00000091129 chr7:108182731-108182731;C/T missense_variant False NRCAM@p.K9N 1 0.132653061 ENSG00000091129 chr7:108240038-108240038;C/A missense_variant False NRCAM@p.L510V 1 0.538461538 ENSG00000091129 chr7:108194364-108194364;A/C missense_variant False NRCAM@p.M1174T 1 0.405797101 ENSG00000091129 chr7:108160438-108160438;A/G missense_variant False NRCAM@p.R16K 1 0.323353293 ENSG00000091129 chr7:108240018-108240018;C/T missense_variant False NRCAM@p.R16T 1 0.154761905 ENSG00000091129 chr7:108240018-108240018;C/G missense_variant False NRCAM@p.V355L 1 0.431034483 ENSG00000091129 chr7:108209433-108209433;C/G missense_variant False NRCAM@p.Y885C 1 0.476190476 ENSG00000091129 chr7:108180420-108180420;T/C missense_variant False NRDC@p.D1060N 1 0.151515152 ENSG00000078618 chr1:51790977-51790977;C/T missense_variant False NRDC@p.D185N 1 0.3 ENSG00000078618 chr1:51840303-51840303;C/T missense_variant False NRDC@p.E1006Q 1 0.182926829 ENSG00000078618 chr1:51792388-51792388;C/G missense_variant False NRDC@p.E1164K 1 0.081632653 ENSG00000078618 chr1:51789406-51789406;C/T missense_variant False NRAP@p.R1663T 1 0.326315789 ENSG00000197893 chr10:113589766-113589766;C/G missense_variant False NRAP@p.P1117L 1 0.26744186 ENSG00000197893 chr10:113612382-113612382;G/A missense_variant False NR3C1@p.D187E 1 0.145454545 ENSG00000113580 chr5:143400279-143400279;G/T missense_variant False NR4A1@p.R316Q 1 0.181102362 ENSG00000123358 chr12:52056100-52056100;G/A missense_variant False NR4A3@p.I167M 1 0.647058824 ENSG00000119508 chr9:99828543-99828543;C/G missense_variant False NR4A2@p.S84F 1 0.169811321 ENSG00000153234 chr2:156329936-156329936;G/A missense_variant False NR4A2@p.S347L 1 0.333333333 ENSG00000153234 chr2:156327969-156327969;G/A missense_variant False NR4A2@p.S148C 1 0.243362832 ENSG00000153234 chr2:156329744-156329744;G/C missense_variant False NR4A2@p.F34L 1 0.219512195 ENSG00000153234 chr2:156330085-156330085;G/C missense_variant False NR4A1@p.R345W 1 0.132743363 ENSG00000123358 chr12:52056520-52056520;C/T missense_variant False NR3C2@p.S810L 1 0.205128205 ENSG00000151623 chr4:148152550-148152550;G/A missense_variant False NRAP@p.M341I 1 0.355263158 ENSG00000197893 chr10:113645912-113645912;C/T missense_variant False NR3C2@p.S246C 1 0.342105263 ENSG00000151623 chr4:148436124-148436124;G/C missense_variant False NR3C2@p.P192L 1 0.166666667 ENSG00000151623 chr4:148436286-148436286;G/A missense_variant False NR3C2@p.A733V 1 0.20754717 ENSG00000151623 chr4:148154718-148154718;G/A missense_variant False NR3C1@p.S113F 1 0.401129944 ENSG00000113580 chr5:143400502-143400502;G/A missense_variant False NR3C1@p.R59Q 1 0.141732283 ENSG00000113580 chr5:143400664-143400664;C/T missense_variant False NR3C1@p.E661K 1 0.179104478 ENSG00000113580 chr5:143295502-143295502;C/T missense_variant False NR4A3@p.P123T 1 1.0 ENSG00000119508 chr9:99828409-99828409;C/A missense_variant False NR5A1@p.R114W 1 0.314285714 ENSG00000136931 chr9:124500620-124500620;G/A missense_variant False NR5A2@p.D372N 1 0.178571429 ENSG00000116833 chr1:200111205-200111205;G/A missense_variant False NR5A2@p.E272Q 1 0.396825397 ENSG00000116833 chr1:200048522-200048522;G/C missense_variant False NR5A2@p.E312Q 1 0.126582278 ENSG00000116833 chr1:200048642-200048642;G/C missense_variant False NR5A2@p.G164E 1 0.15 ENSG00000116833 chr1:200048199-200048199;G/A missense_variant False NR5A2@p.H252Y 1 0.536231884 ENSG00000116833 chr1:200048462-200048462;C/T missense_variant False NR5A2@p.L230M 1 0.442857143 ENSG00000116833 chr1:200048396-200048396;T/A missense_variant False NR5A2@p.L339V 1 0.25 ENSG00000116833 chr1:200048723-200048723;C/G missense_variant False NR6A1@p.M392I 1 0.260273973 ENSG00000148200 chr9:124526804-124526804;C/T missense_variant False NRAP@p.A1507V 1 0.510416667 ENSG00000197893 chr10:113595639-113595639;G/A missense_variant False NRAP@p.A539D 1 0.25 ENSG00000197893 chr10:113633100-113633100;G/T missense_variant False NRAP@p.D1484N 1 0.064705882 ENSG00000197893 chr10:113595709-113595709;C/T missense_variant False NRAP@p.F393L 1 0.509803922 ENSG00000197893 chr10:113642970-113642970;G/C missense_variant False NRAP@p.H1386Y 1 0.092307692 ENSG00000197893 chr10:113604680-113604680;G/A missense_variant False NRAP@p.K862Q 1 0.38372093 ENSG00000197893 chr10:113622054-113622054;T/G missense_variant False NRAP@p.L1116Q 1 0.5 ENSG00000197893 chr10:113612385-113612385;A/T missense_variant False NPTX1@p.G225E 1 0.654320988 ENSG00000171246 chr17:80473423-80473423;C/T missense_variant False NPTX1@p.A252T 1 0.454545455 ENSG00000171246 chr17:80473343-80473343;C/T missense_variant False NPTN@p.A255_T256del 1 0.319672131 ENSG00000156642 chr15:73573734-73573739;AGTGGC/- inframe_deletion False NPC1L1@p.M766I 1 0.06779661 ENSG00000015520 chr7:44533542-44533542;C/T missense_variant False NPDC1@p.R55T 1 0.285714286 ENSG00000107281 chr9:137043022-137043022;C/G missense_variant False NPDC1@p.E298D 1 0.339622642 ENSG00000107281 chr9:137039856-137039856;T/G missense_variant False NPC1L1@p.S688C 1 0.548148148 ENSG00000015520 chr7:44534550-44534550;G/C missense_variant False NPC1L1@p.R801K 1 0.413333333 ENSG00000015520 chr7:44533438-44533438;C/T missense_variant False NPC1L1@p.R463C 1 0.761904762 ENSG00000015520 chr7:44539010-44539010;G/A missense_variant False NPC1L1@p.R421M 1 0.161764706 ENSG00000015520 chr7:44539135-44539135;C/A missense_variant False NPC1L1@p.M1174I 1 0.2 ENSG00000015520 chr7:44516781-44516781;C/G missense_variant False NPC1@p.L829V 1 0.092592593 ENSG00000141458 chr18:23541097-23541097;G/C missense_variant False NPC1L1@p.K76N 1 0.390243902 ENSG00000015520 chr7:44540169-44540169;C/G missense_variant False NPC1L1@p.H1080R 1 0.271604938 ENSG00000015520 chr7:44517336-44517336;T/C missense_variant False NPC1L1@p.F553L 1 0.264367816 ENSG00000015520 chr7:44536864-44536864;G/T missense_variant False NPC1L1@p.F396L 1 0.136363636 ENSG00000015520 chr7:44539209-44539209;G/T missense_variant False NPC1@p.S738L 1 0.068965517 ENSG00000141458 chr18:23543487-23543487;G/A missense_variant False NPC1@p.P888R 1 0.264705882 ENSG00000141458 chr18:23539943-23539943;G/C missense_variant False NPEPL1@p.M192I 1 0.147058824 ENSG00000215440 chr20:58698752-58698752;G/A missense_variant False NPEPL1@p.R109G 1 0.307692308 ENSG00000215440 chr20:58693911-58693911;C/G missense_variant False NPEPL1@p.S90L 1 0.186440678 ENSG00000215440 chr20:58693855-58693855;C/T missense_variant False NPEPPS@p.D790N 1 0.282608696 ENSG00000141279 chr17:47618422-47618422;G/A missense_variant False NPEPPS@p.D862N 1 0.081081081 ENSG00000141279 chr17:47619761-47619761;G/A missense_variant False NPEPPS@p.E375K 1 0.382352941 ENSG00000141279 chr17:47590744-47590744;G/A missense_variant False NPEPPS@p.E431K 1 0.470588235 ENSG00000141279 chr17:47591986-47591986;G/A missense_variant False NPEPPS@p.E723K 1 0.226666667 ENSG00000141279 chr17:47612531-47612531;G/A missense_variant False NPEPPS@p.G263D 1 0.645669291 ENSG00000141279 chr17:47585639-47585639;G/A missense_variant False NPFF@p.E87K 1 0.132404181 ENSG00000139574 chr12:53506859-53506859;C/T missense_variant False NPFF@p.E95Q 1 0.175 ENSG00000139574 chr12:53506835-53506835;C/G missense_variant False NPFFR1@p.E23K 1 0.147058824 ENSG00000148734 chr10:70266332-70266332;C/T missense_variant False NPFFR1@p.G19E 1 0.178571429 ENSG00000148734 chr10:70266343-70266343;C/T missense_variant False NPFFR2@p.D400N 1 0.495145631 ENSG00000056291 chr4:72147441-72147441;G/A missense_variant False NPFFR2@p.M162I 1 0.139393939 ENSG00000056291 chr4:72128771-72128771;G/T missense_variant False NPFFR2@p.N314Y 1 0.619047619 ENSG00000056291 chr4:72147183-72147183;A/T missense_variant False NPFFR2@p.P313Q 1 0.6 ENSG00000056291 chr4:72147181-72147181;C/A missense_variant False NPC1@p.M996I 1 0.388157895 ENSG00000141458 chr18:23538595-23538595;C/T missense_variant False NPC1@p.I437M 1 0.338582677 ENSG00000141458 chr18:23556258-23556258;T/C missense_variant False NPHP1@p.E142D 1 0.462686567 ENSG00000144061 chr2:110169902-110169902;C/A missense_variant False NPAS3@p.S693C 1 0.317073171 ENSG00000151322 chr14:33800385-33800385;C/G missense_variant False NPAS4@p.P550L 1 0.438016529 ENSG00000174576 chr11:66424539-66424539;C/T missense_variant False NPAS4@p.E734K 1 0.177777778 ENSG00000174576 chr11:66425090-66425090;G/A missense_variant False NPAS4@p.E572K 1 0.237804878 ENSG00000174576 chr11:66424604-66424604;G/A missense_variant False NPAS4@p.E355K 1 0.274418605 ENSG00000174576 chr11:66423953-66423953;G/A missense_variant False NPAS4@p.D721Y 1 0.189873418 ENSG00000174576 chr11:66425051-66425051;G/T missense_variant False NPAS4@p.A18T 1 0.479166667 ENSG00000174576 chr11:66421231-66421231;G/A missense_variant False NPAS3@p.M103I 1 0.375 ENSG00000151322 chr14:33215350-33215350;G/T missense_variant False NPC1@p.F966L 1 0.625 ENSG00000141458 chr18:23539368-23539368;G/C missense_variant False NPAS3@p.E494K 1 0.3 ENSG00000151322 chr14:33799787-33799787;G/A missense_variant False NPAS3@p.E176G 1 0.353846154 ENSG00000151322 chr14:33560179-33560179;A/G missense_variant False NPAS2@p.R615T 1 0.238095238 ENSG00000170485 chr2:100990272-100990272;G/C missense_variant False NPAS2@p.K310N 1 0.076923077 ENSG00000170485 chr2:100968303-100968303;G/T missense_variant False NPAS2@p.K260N 1 0.341463415 ENSG00000170485 chr2:100964923-100964923;A/T missense_variant False NPAS2@p.E510Q 1 0.139534884 ENSG00000170485 chr2:100982276-100982276;G/C missense_variant False NPAS4@p.S231Y 1 0.379310345 ENSG00000174576 chr11:66422935-66422935;C/A missense_variant False NPAS4@p.Y561H 1 0.203821656 ENSG00000174576 chr11:66424571-66424571;T/C missense_variant False NPAT@p.D1261N 1 0.508474576 ENSG00000149308 chr11:108161305-108161305;C/T missense_variant False NPAT@p.D1285H 1 0.25 ENSG00000149308 chr11:108161233-108161233;C/G missense_variant False NPAT@p.E586K 1 0.054347826 ENSG00000149308 chr11:108173228-108173228;C/T missense_variant False NPAT@p.P776A 1 0.183098592 ENSG00000149308 chr11:108172658-108172658;G/C missense_variant False NPAT@p.S1017L 1 0.680412371 ENSG00000149308 chr11:108162141-108162141;G/A missense_variant False NPAT@p.S1085F 1 0.181818182 ENSG00000149308 chr11:108161832-108161832;G/A missense_variant False NPAT@p.S1146L 1 0.317757009 ENSG00000149308 chr11:108161649-108161649;G/A missense_variant False NPAT@p.S636C 1 0.1875 ENSG00000149308 chr11:108173077-108173077;G/C missense_variant False NPAT@p.T510S 1 0.317647059 ENSG00000149308 chr11:108173455-108173455;G/C missense_variant False NPB@p.D121N 1 0.255813953 ENSG00000183979 chr17:81902731-81902731;G/A missense_variant False NPBWR2@p.I55M 1 0.265306122 ENSG00000125522 chr20:64106667-64106667;G/C missense_variant False NPBWR2@p.I55Sfs*6 1 0.422222222 ENSG00000125522 chr20:64106670-64106670;C/- frameshift_variant False NPBWR2@p.R332Q 1 0.612244898 ENSG00000125522 chr20:64105837-64105837;C/T missense_variant False NPBWR2@p.V222G 1 0.322580645 ENSG00000125522 chr20:64106167-64106167;A/C missense_variant False NPC1@p.D182N 1 0.136612022 ENSG00000141458 chr18:23561447-23561447;C/T missense_variant False NPFFR2@p.S54F 1 0.133333333 ENSG00000056291 chr4:72032062-72032062;C/T missense_variant False NPHP1@p.E281Q 1 0.223744292 ENSG00000144061 chr2:110164618-110164618;C/G missense_variant False NPSR1@p.L375F 1 0.142857143 ENSG00000187258 chr7:34878173-34878173;C/T missense_variant False NPR1@p.D274N 1 0.135416667 ENSG00000169418 chr1:153680599-153680599;G/A missense_variant False NPR2@p.Q417H 1 0.448979592 ENSG00000159899 chr9:35800741-35800741;G/C missense_variant False NPR2@p.I341M 1 0.378378378 ENSG00000159899 chr9:35800057-35800057;C/G missense_variant False NPR2@p.E559Q 1 0.432432432 ENSG00000159899 chr9:35802248-35802248;G/C missense_variant False NPR2@p.E505K 1 0.485714286 ENSG00000159899 chr9:35801719-35801719;G/A missense_variant False NPR1@p.S542F 1 0.142857143 ENSG00000169418 chr1:153685825-153685825;C/T missense_variant False NPR1@p.P704L 1 0.162790698 ENSG00000169418 chr1:153687652-153687652;C/T missense_variant False NPR1@p.A785S 1 0.255319149 ENSG00000169418 chr1:153688157-153688157;G/T missense_variant False NPM3@p.F38L 1 0.407407407 ENSG00000107833 chr10:101783277-101783277;G/T missense_variant False NPPC@p.S107F 1 0.263157895 ENSG00000163273 chr2:231925486-231925486;G/A missense_variant False NPPC@p.M121I 1 0.304347826 ENSG00000163273 chr2:231925443-231925443;C/G missense_variant False NPPA@p.D106Y 1 0.134453782 ENSG00000175206 chr1:11847247-11847247;C/A missense_variant False NPNT@p.S126F 1 0.258741259 ENSG00000168743 chr4:105937120-105937120;C/T missense_variant False NPNT@p.D425H 1 0.179487179 ENSG00000168743 chr4:105959054-105959054;G/C missense_variant False NPNT@p.A510D 1 0.28 ENSG00000168743 chr4:105967371-105967371;C/A missense_variant False NPR2@p.R848Q 1 0.25 ENSG00000159899 chr9:35807046-35807046;G/A missense_variant False NPR2@p.R932C 1 0.266666667 ENSG00000159899 chr9:35808590-35808590;C/T missense_variant False NPR3@p.E104K 1 0.313432836 ENSG00000113389 chr5:32712086-32712086;G/A missense_variant False NPR3@p.G414R 1 0.309623431 ENSG00000113389 chr5:32780766-32780766;G/A missense_variant False NPR3@p.G437E 1 0.181818182 ENSG00000113389 chr5:32782912-32782912;G/A missense_variant False NPR3@p.M187I 1 0.308823529 ENSG00000113389 chr5:32712337-32712337;G/T missense_variant False NPR3@p.R530Q 1 0.347826087 ENSG00000113389 chr5:32786308-32786308;G/A missense_variant False NPR3@p.R98C 1 0.076923077 ENSG00000113389 chr5:32712068-32712068;C/T missense_variant False NPRL2@p.E138K 1 0.309859155 ENSG00000114388 chr3:50349422-50349422;C/T missense_variant False NPRL2@p.T18R 1 0.296296296 ENSG00000114388 chr3:50350600-50350600;G/C missense_variant False NPRL2@p.W189C 1 0.240506329 ENSG00000114388 chr3:50348892-50348892;C/G missense_variant False NPRL3@p.D175N 1 0.269230769 ENSG00000103148 chr16:112646-112646;C/T missense_variant False NPRL3@p.D455V 1 0.277777778 ENSG00000103148 chr16:88878-88878;T/A missense_variant False NPRL3@p.E508K 1 0.333333333 ENSG00000103148 chr16:88720-88720;C/T missense_variant False NPS@p.L58I 1 0.523297491 ENSG00000214285 chr10:127552541-127552541;C/A missense_variant False NPS@p.Y37C 1 0.347328244 ENSG00000214285 chr10:127552479-127552479;A/G missense_variant False NPSR1@p.E307K 1 0.263157895 ENSG00000187258 chr7:34848557-34848557;G/A missense_variant False NPM3@p.G74A 1 0.161290323 ENSG00000107833 chr10:101782581-101782581;C/G missense_variant False NPM3@p.F114C 1 0.230769231 ENSG00000107833 chr10:101782335-101782335;A/C missense_variant False NPHP1@p.E569K 1 0.285714286 ENSG00000144061 chr2:110131781-110131781;C/T missense_variant False NPHP3@p.E116Q 1 0.133333333 ENSG00000113971 chr3:132722010-132722010;C/G missense_variant False NPHP4@p.E1385K 1 0.266666667 ENSG00000131697 chr1:5863393-5863393;C/T missense_variant False NPHP3@p.Y922F 1 0.564102564 ENSG00000113971 chr3:132689192-132689192;T/A missense_variant False NPHP3@p.T579I 1 0.450980392 ENSG00000113971 chr3:132700341-132700341;G/A missense_variant False NPHP3@p.R983I 1 0.215517241 ENSG00000113971 chr3:132688827-132688827;C/A missense_variant False NPHP3@p.R973Q 1 0.320754717 ENSG00000113971 chr3:132688857-132688857;C/T missense_variant False NPHP3@p.R1118C 1 0.298507463 ENSG00000113971 chr3:132684772-132684772;G/A missense_variant False NPHP3@p.E1121Q 1 0.298245614 ENSG00000113971 chr3:132684763-132684763;C/G missense_variant False NPM2@p.E187A 1 0.4 ENSG00000158806 chr8:22034538-22034538;A/C missense_variant False NPHP3@p.D344G 1 0.151162791 ENSG00000113971 chr3:132713213-132713213;T/C missense_variant False NPHP3@p.D18V 1 0.142857143 ENSG00000113971 chr3:132722303-132722303;T/A missense_variant False NPHP3@p.D1194E 1 0.178571429 ENSG00000113971 chr3:132683513-132683513;G/C missense_variant False NPHP1@p.V732L 1 0.188679245 ENSG00000144061 chr2:110123796-110123796;C/A missense_variant False NPHP1@p.R294S 1 0.264957265 ENSG00000144061 chr2:110164577-110164577;C/A missense_variant False NPHP1@p.M597I 1 0.363636364 ENSG00000144061 chr2:110131695-110131695;C/G missense_variant False NPHS1@p.E1115K 1 0.375 ENSG00000161270 chr19:35831340-35831340;C/T missense_variant False NPHS1@p.K454Q 1 0.212765957 ENSG00000161270 chr19:35848121-35848121;T/G missense_variant False NPHS1@p.L904Q 1 0.176470588 ENSG00000161270 chr19:35841819-35841819;A/T missense_variant False NPHS1@p.Q193H 1 0.336842105 ENSG00000161270 chr19:35850393-35850393;C/G missense_variant False NPHS1@p.R1181I 1 0.393103448 ENSG00000161270 chr19:35830896-35830896;C/A missense_variant False NPHS1@p.T42M 1 0.454545455 ENSG00000161270 chr19:35851606-35851606;G/A missense_variant False NPHS2@p.E310Q 1 0.06122449 ENSG00000116218 chr1:179551397-179551397;C/G missense_variant False NPHS2@p.L330P 1 0.625 ENSG00000116218 chr1:179551336-179551336;A/G missense_variant False NPIPB15@p.D98H 1 0.18699187 ENSG00000196436 chr16:74385384-74385384;G/C missense_variant False NPIPB15@p.E284Q 1 0.216312057 ENSG00000196436 chr16:74391598-74391598;G/C missense_variant False NPIPB15@p.P310R 1 0.133858268 ENSG00000196436 chr16:74391677-74391677;C/G missense_variant False NPIPB15@p.S309C 1 0.235294118 ENSG00000196436 chr16:74391674-74391674;C/G missense_variant False NPIPB15@p.S93F 1 0.232323232 ENSG00000196436 chr16:74385370-74385370;C/T missense_variant False NPL@p.C185G 1 0.23943662 ENSG00000135838 chr1:182818636-182818636;T/G missense_variant False NPL@p.S93L 1 0.261904762 ENSG00000135838 chr1:182812203-182812203;C/T missense_variant False NPLOC4@p.L521V 1 0.4 ENSG00000182446 chr17:81567422-81567422;G/C missense_variant False NPLOC4@p.R306P 1 0.136363636 ENSG00000182446 chr17:81600345-81600345;C/G missense_variant False NRDC@p.E242K 1 0.41 ENSG00000078618 chr1:51837527-51837527;C/T missense_variant False NRDC@p.E253K 1 0.393442623 ENSG00000078618 chr1:51837494-51837494;C/T missense_variant False NRDC@p.E31K 1 0.2 ENSG00000078618 chr1:51878525-51878525;C/T missense_variant False NSMAF@p.Y401H 1 0.264705882 ENSG00000035681 chr8:58601460-58601460;A/G missense_variant False NSMCE1@p.S95A 1 0.24137931 ENSG00000169189 chr16:27234241-27234241;A/C missense_variant False NSMCE1@p.S66T 1 0.166666667 ENSG00000169189 chr16:27235240-27235240;A/T missense_variant False NSMCE1@p.R142G 1 0.216666667 ENSG00000169189 chr16:27233060-27233060;T/C missense_variant False NSMCE1@p.G74E 1 0.239130435 ENSG00000169189 chr16:27235215-27235215;C/T missense_variant False NSMCE1@p.E30K 1 0.31372549 ENSG00000169189 chr16:27257483-27257483;C/T missense_variant False NSMCE1@p.E103D 1 0.103174603 ENSG00000169189 chr16:27234215-27234215;C/G missense_variant False NSMAF@p.Y269N 1 0.227272727 ENSG00000035681 chr8:58605990-58605990;A/T missense_variant False NSG1@p.V105A 1 0.069565217 ENSG00000168824 chr4:4409640-4409640;T/C missense_variant False NSMAF@p.S661L 1 0.324324324 ENSG00000035681 chr8:58590904-58590904;G/A missense_variant False NSMAF@p.R179K 1 0.161290323 ENSG00000035681 chr8:58623241-58623241;C/T missense_variant False NSMAF@p.Q223E 1 0.172413793 ENSG00000035681 chr8:58609624-58609624;G/C missense_variant False NSMAF@p.E299D 1 0.268907563 ENSG00000035681 chr8:58603358-58603358;C/G missense_variant False NSMAF@p.D604N 1 0.196078431 ENSG00000035681 chr8:58595642-58595642;C/T missense_variant False NSG2@p.I160N 1 0.195121951 ENSG00000170091 chr5:174107468-174107468;T/A missense_variant False NSMCE2@p.Q143P 1 0.071428571 ENSG00000156831 chr8:125357228-125357228;A/C missense_variant False NSMCE2@p.S60I 1 0.147849462 ENSG00000156831 chr8:125151192-125151192;G/T missense_variant False NSMCE3@p.E34K 1 0.727272727 ENSG00000185115 chr15:29269606-29269606;C/T missense_variant False NSMCE3@p.K211N 1 0.16 ENSG00000185115 chr15:29269073-29269073;C/G missense_variant False NSRP1@p.D139H 1 0.125 ENSG00000126653 chr17:30179204-30179204;G/C missense_variant False NSRP1@p.E274Q 1 0.313253012 ENSG00000126653 chr17:30184817-30184817;G/C missense_variant False NSUN2@p.D254Y 1 0.090909091 ENSG00000037474 chr5:6620161-6620161;C/A missense_variant False NSUN2@p.D626N 1 0.325301205 ENSG00000037474 chr5:6604219-6604219;C/T missense_variant False NSUN2@p.E492Q 1 0.030797101 ENSG00000037474 chr5:6607234-6607234;C/G missense_variant False NSUN2@p.I361M 1 0.206896552 ENSG00000037474 chr5:6611737-6611737;G/C missense_variant False NSUN2@p.M702L 1 0.326923077 ENSG00000037474 chr5:6600126-6600126;T/G missense_variant False NSUN2@p.Q227E 1 0.238372093 ENSG00000037474 chr5:6620242-6620242;G/C missense_variant False NSUN2@p.R175Q 1 0.433333333 ENSG00000037474 chr5:6623227-6623227;C/T missense_variant False NSUN2@p.R79S 1 0.435185185 ENSG00000037474 chr5:6632616-6632616;T/G missense_variant False NSUN3@p.S9L 1 0.153846154 ENSG00000178694 chr3:94064450-94064450;C/T missense_variant False NSUN5@p.R340Q 1 0.228571429 ENSG00000130305 chr7:73303952-73303952;C/T missense_variant False NSUN6@p.E14K 1 0.383116883 ENSG00000241058 chr10:18651164-18651164;C/T missense_variant False NSG2@p.F62L 1 0.546875 ENSG00000170091 chr5:174064288-174064288;C/G missense_variant False NSG1@p.A133T 1 0.145985401 ENSG00000168824 chr4:4417274-4417274;G/A missense_variant False NSUN6@p.F463C 1 0.441860465 ENSG00000241058 chr10:18545955-18545955;A/C missense_variant False NSD3@p.D654N 1 0.169642857 ENSG00000147548 chr8:38315938-38315938;C/T missense_variant False NSD3@p.Q162H 1 0.846774194 ENSG00000147548 chr8:38347686-38347686;C/G missense_variant False NSD3@p.G711C 1 0.071428571 ENSG00000147548 chr8:38314758-38314758;C/A missense_variant False NSD3@p.E708Q 1 0.307692308 ENSG00000147548 chr8:38314767-38314767;C/G missense_variant False NSD3@p.E1417Q 1 0.3 ENSG00000147548 chr8:38275706-38275706;C/G missense_variant False NSD3@p.D994N 1 0.223255814 ENSG00000147548 chr8:38290613-38290613;C/T missense_variant False NSD3@p.D737N 1 0.318181818 ENSG00000147548 chr8:38314680-38314680;C/T missense_variant False NSD3@p.D291H 1 0.328947368 ENSG00000147548 chr8:38337344-38337344;C/G missense_variant False NSFL1C@p.G248E 1 0.303921569 ENSG00000088833 chr20:1452535-1452535;C/T missense_variant False NSD2@p.Y891C 1 0.34939759 ENSG00000109685 chr4:1955846-1955846;A/G missense_variant False NSD2@p.V719M 1 0.47008547 ENSG00000109685 chr4:1953341-1953341;G/A missense_variant False NSD2@p.S1292L 1 0.115384615 ENSG00000109685 chr4:1978686-1978686;C/T missense_variant False NSD2@p.S1011L 1 0.260869565 ENSG00000109685 chr4:1959517-1959517;C/T missense_variant False NSD2@p.R1160H 1 0.461538462 ENSG00000109685 chr4:1974969-1974969;G/A missense_variant False NSD2@p.P195A 1 0.1125 ENSG00000109685 chr4:1901237-1901237;C/G missense_variant False NSD3@p.R1309K 1 0.047619048 ENSG00000147548 chr8:38276442-38276442;C/T missense_variant False NSD3@p.R230S 1 0.186440678 ENSG00000147548 chr8:38338593-38338593;C/G missense_variant False NSD3@p.R551T 1 0.130434783 ENSG00000147548 chr8:38326786-38326786;C/G missense_variant False NSD3@p.S571L 1 0.296296296 ENSG00000147548 chr8:38321169-38321169;G/A missense_variant False NSD3@p.S688L 1 0.303571429 ENSG00000147548 chr8:38315468-38315468;G/A missense_variant False NSDHL@p.D154N 1 0.546875 ENSG00000147383 chrX:152862641-152862641;G/A missense_variant False NSDHL@p.I216V 1 0.112676056 ENSG00000147383 chrX:152865921-152865921;A/G missense_variant False NSDHL@p.M9I 1 0.5 ENSG00000147383 chrX:152846351-152846351;G/A missense_variant False NSF@p.D520N 1 0.671641791 ENSG00000073969 chr17:46711050-46711050;G/A missense_variant False NSF@p.E485D 1 0.147058824 ENSG00000073969 chr17:46704839-46704839;G/C missense_variant False NSF@p.F686V 1 0.219512195 ENSG00000073969 chr17:46751515-46751515;T/G missense_variant False NSF@p.P545S 1 0.214285714 ENSG00000073969 chr17:46713858-46713858;C/T missense_variant False NSF@p.Q653K 1 0.22147651 ENSG00000073969 chr17:46749821-46749821;C/A missense_variant False NSF@p.V602G 1 0.465517241 ENSG00000073969 chr17:46726592-46726592;T/G missense_variant False NSFL1C@p.D194G 1 0.117647059 ENSG00000088833 chr20:1453097-1453097;T/C missense_variant False NSFL1C@p.D327Y 1 0.333333333 ENSG00000088833 chr20:1443883-1443883;C/A missense_variant False NSFL1C@p.E88K 1 0.14 ENSG00000088833 chr20:1458216-1458216;C/T missense_variant False NSUN6@p.E365Q 1 0.222222222 ENSG00000241058 chr10:18548216-18548216;C/G missense_variant False NSUN6@p.L9F 1 0.345864662 ENSG00000241058 chr10:18651177-18651177;C/G missense_variant False NSD2@p.L281I 1 0.214285714 ENSG00000109685 chr4:1916951-1916951;C/A missense_variant False NTMT1@p.N209Kfs*15 1 0.203389831 ENSG00000148335 chr9:129635416-129635417;-/AA frameshift_variant False NTN4@p.F378L 1 0.194029851 ENSG00000074527 chr12:95710487-95710487;G/C missense_variant False NTN1@p.S564F 1 0.666666667 ENSG00000065320 chr17:9239844-9239844;C/T missense_variant False NTN1@p.R155Q 1 0.444444444 ENSG00000065320 chr17:9022837-9022837;G/A missense_variant False NTN1@p.E143K 1 0.210526316 ENSG00000065320 chr17:9022800-9022800;G/A missense_variant False NTN1@p.A219T 1 0.384615385 ENSG00000065320 chr17:9023028-9023028;G/A missense_variant False NTMT1@p.T2M 1 0.111111111 ENSG00000148335 chr9:129632708-129632708;C/T missense_variant False NTM@p.S298C 1 0.524590164 ENSG00000182667 chr11:132314662-132314662;C/G missense_variant False NT5E@p.S529C 1 0.097560976 ENSG00000135318 chr6:85493865-85493865;C/G missense_variant False NTM@p.P112T 1 0.125 ENSG00000182667 chr11:132146448-132146448;C/A missense_variant False NTHL1@p.K253N 1 0.430769231 ENSG00000065057 chr16:2040189-2040189;C/A missense_variant False NTHL1@p.I176M 1 0.07 ENSG00000065057 chr16:2044651-2044651;G/C missense_variant False NTF4@p.V96M 1 0.519480519 ENSG00000225950 chr19:49061712-49061712;C/T missense_variant False NTF3@p.R146Q 1 0.177777778 ENSG00000185652 chr12:5494651-5494651;G/A missense_variant False NTAQ1@p.N174S 1 0.726744186 ENSG00000156795 chr8:123441318-123441318;A/G missense_variant False NTN4@p.Q237R 1 0.186666667 ENSG00000074527 chr12:95738020-95738020;T/C missense_variant False NTN4@p.S108F 1 0.404761905 ENSG00000074527 chr12:95787201-95787201;G/A missense_variant False NTN5@p.D21H 1 0.25 ENSG00000142233 chr19:48670926-48670926;C/G missense_variant False NTNG1@p.A491S 1 0.138888889 ENSG00000162631 chr1:107480691-107480691;G/T missense_variant False NTNG1@p.G349R 1 0.064220183 ENSG00000162631 chr1:107395311-107395311;G/C missense_variant False NTNG1@p.R254T 1 0.680851064 ENSG00000162631 chr1:107324796-107324796;G/C missense_variant False NTNG1@p.Y421F 1 0.43902439 ENSG00000162631 chr1:107436671-107436671;A/T missense_variant False NTNG2@p.D419N 1 0.772727273 ENSG00000196358 chr9:132240942-132240942;G/A missense_variant False NTNG2@p.D48Tfs*5 1 0.128712871 ENSG00000196358 chr9:132166972-132166972;G/- frameshift_variant False NTNG2@p.R329Q 1 0.543859649 ENSG00000196358 chr9:132226977-132226977;G/A missense_variant False NTPCR@p.G44A 1 0.275 ENSG00000135778 chr1:232955653-232955653;G/C missense_variant False NTRK1@p.D38N 1 0.235294118 ENSG00000198400 chr1:156861046-156861046;G/A missense_variant False NTRK1@p.E767K 1 0.178571429 ENSG00000198400 chr1:156881550-156881550;G/A missense_variant False NTRK1@p.G179R 1 0.6 ENSG00000198400 chr1:156868210-156868210;G/C missense_variant False NTRK1@p.K447M 1 0.188118812 ENSG00000198400 chr1:156874994-156874994;A/T missense_variant False NTRK1@p.R507C 1 0.076923077 ENSG00000198400 chr1:156876097-156876097;C/T missense_variant False NTRK1@p.R508W 1 0.083333333 ENSG00000198400 chr1:156876100-156876100;C/T missense_variant False NTAN1@p.M106I 1 0.166666667 ENSG00000157045 chr16:15047483-15047483;C/A missense_variant False NT5E@p.S221L 1 0.18 ENSG00000135318 chr6:85471336-85471336;C/T missense_variant False NSUN6@p.P85S 1 0.137931034 ENSG00000241058 chr10:18642534-18642534;G/A missense_variant False NT5C1A@p.E66Q 1 0.184210526 ENSG00000116981 chr1:39666176-39666176;C/G missense_variant False NT5C1B@p.L366H 1 0.176470588 ENSG00000185013 chr2:18582972-18582972;A/T missense_variant False NT5C1B@p.E591K 1 0.112903226 ENSG00000185013 chr2:18563858-18563858;C/T missense_variant False NT5C1B@p.E211D 1 0.195652174 ENSG00000185013 chr2:18584784-18584784;C/G missense_variant False NT5C1B@p.A364V 1 0.37704918 ENSG00000185013 chr2:18582978-18582978;G/A missense_variant False NT5C1A@p.R109W 1 1.0 ENSG00000116981 chr1:39665629-39665629;G/A missense_variant False NT5C1A@p.H167D 1 0.112676056 ENSG00000116981 chr1:39663369-39663369;G/C missense_variant False NSUN7@p.S232C 1 0.441860465 ENSG00000179299 chr4:40774820-40774820;C/G missense_variant False NT5E@p.D422N 1 0.270588235 ENSG00000135318 chr6:85490561-85490561;G/A missense_variant False NSUN7@p.N3K 1 0.444444444 ENSG00000179299 chr4:40750702-40750702;T/A missense_variant False NSUN7@p.E17K 1 0.333333333 ENSG00000179299 chr4:40750742-40750742;G/A missense_variant False NSUN7@p.D146H 1 0.182857143 ENSG00000179299 chr4:40761249-40761249;G/C missense_variant False NSUN6@p.S8F 1 0.384615385 ENSG00000241058 chr10:18651181-18651181;G/A missense_variant False NSUN6@p.S137L 1 0.786885246 ENSG00000241058 chr10:18616195-18616195;G/A missense_variant False NSUN6@p.R126K 1 0.450704225 ENSG00000241058 chr10:18616228-18616228;C/T missense_variant False NT5C1B@p.P530H 1 0.222222222 ENSG00000185013 chr2:18564040-18564040;G/T missense_variant False NT5C2@p.L222I 1 0.27027027 ENSG00000076685 chr10:103098954-103098954;G/T missense_variant False NT5C3A@p.D229N 1 0.212121212 ENSG00000122643 chr7:33017447-33017447;C/T missense_variant False NT5C3A@p.F195L 1 0.325203252 ENSG00000122643 chr7:33017547-33017547;G/C missense_variant False NT5C3A@p.R90T 1 0.2 ENSG00000122643 chr7:33024077-33024077;C/G missense_variant False NT5C3B@p.E276D 1 0.553191489 ENSG00000141698 chr17:41825598-41825598;C/G missense_variant False NT5C3B@p.K249N 1 0.469072165 ENSG00000141698 chr17:41827447-41827447;T/G missense_variant False NT5C@p.E154D 1 0.107142857 ENSG00000125458 chr17:75130632-75130632;C/G missense_variant False NT5DC1@p.F254L 1 0.481818182 ENSG00000178425 chr6:116223091-116223091;C/A missense_variant False NT5DC2@p.D501H 1 0.148148148 ENSG00000168268 chr3:52524532-52524532;C/G missense_variant False NT5DC2@p.E429K 1 0.181818182 ENSG00000168268 chr3:52524833-52524833;C/T missense_variant False NT5DC2@p.E429Q 1 0.297520661 ENSG00000168268 chr3:52524833-52524833;C/G missense_variant False NT5DC2@p.E68K 1 0.282608696 ENSG00000168268 chr3:52529254-52529254;C/T missense_variant False NT5DC3@p.S87L 1 0.333333333 ENSG00000111696 chr12:103815070-103815070;G/A missense_variant False NT5DC3@p.W353R 1 0.160142349 ENSG00000111696 chr12:103788882-103788882;A/T missense_variant False NT5E@p.A260T 1 0.133333333 ENSG00000135318 chr6:85485261-85485261;G/A missense_variant False NT5E@p.D399H 1 0.31147541 ENSG00000135318 chr6:85489584-85489584;G/C missense_variant False NSD2@p.L508V 1 0.237288136 ENSG00000109685 chr4:1930737-1930737;C/G missense_variant False NSD2@p.K525R 1 0.222222222 ENSG00000109685 chr4:1935162-1935162;A/G missense_variant False NRDC@p.E625K 1 0.409090909 ENSG00000078618 chr1:51814040-51814040;C/T missense_variant False NRIP3@p.R66S 1 0.21686747 ENSG00000175352 chr11:8988259-8988259;C/A missense_variant False NRM@p.E83K 1 0.105263158 ENSG00000137404 chr6:30690130-30690130;C/T missense_variant False NRL@p.E93K 1 0.226415094 ENSG00000129535 chr14:24082572-24082572;C/T missense_variant False NRK@p.L1468F 1 0.179104478 ENSG00000123572 chrX:105949625-105949625;G/T missense_variant False NRK@p.E786Q 1 0.090909091 ENSG00000123572 chrX:105915736-105915736;G/C missense_variant False NRK@p.E388Nfs*42 1 0.183098592 ENSG00000123572 chrX:105908800-105908800;G/- frameshift_variant False NRK@p.A467T 1 0.454545455 ENSG00000123572 chrX:105909040-105909040;G/A missense_variant False NRIP3@p.R66M 1 0.204819277 ENSG00000175352 chr11:8988260-8988260;C/A missense_variant False NRIP1@p.E729K 1 0.643478261 ENSG00000180530 chr21:14966008-14966008;C/T missense_variant False NRIP2@p.P39Hfs*14 1 0.275 ENSG00000053702 chr12:2834870-2834871;-/GG frameshift_variant False NRIP2@p.P37L 1 0.333333333 ENSG00000053702 chr12:2834874-2834874;G/A missense_variant False NRIP2@p.L7V 1 0.384615385 ENSG00000053702 chr12:2834965-2834965;G/C missense_variant False NRIP1@p.S956C 1 0.163346614 ENSG00000180530 chr21:14965326-14965326;G/C missense_variant False NRIP1@p.Q570E 1 0.105084746 ENSG00000180530 chr21:14966485-14966485;G/C missense_variant False NRIP1@p.M1129I 1 0.415929204 ENSG00000180530 chr21:14964806-14964806;C/T missense_variant False NRM@p.L63Pfs*21 1 0.152173913 ENSG00000137404 chr6:30690189-30690190;-/G frameshift_variant False NRM@p.S90F 1 0.117021277 ENSG00000137404 chr6:30690108-30690108;G/A missense_variant False NRN1@p.L21V 1 0.319444444 ENSG00000124785 chr6:6002492-6002492;G/C missense_variant False NRP1@p.E312K 1 0.105633803 ENSG00000099250 chr10:33254075-33254075;C/T missense_variant False NRP1@p.E807Q 1 0.321428571 ENSG00000099250 chr10:33185640-33185640;C/G missense_variant False NRP1@p.E836K 1 0.419117647 ENSG00000099250 chr10:33180342-33180342;C/T missense_variant False NRP1@p.F71L 1 0.160714286 ENSG00000099250 chr10:33330743-33330743;G/C missense_variant False NRP1@p.K181T 1 0.143835616 ENSG00000099250 chr10:33263762-33263762;T/G missense_variant False NRP1@p.S346L 1 0.615384615 ENSG00000099250 chr10:33226234-33226234;G/A missense_variant False NRP1@p.V878M 1 0.552325581 ENSG00000099250 chr10:33180216-33180216;C/T missense_variant False NRP1@p.Y646C 1 0.139013453 ENSG00000099250 chr10:33192406-33192406;T/C missense_variant False NRP2@p.A806V 1 0.509090909 ENSG00000118257 chr2:205766795-205766795;C/T missense_variant False NRP2@p.D195N 1 0.309090909 ENSG00000118257 chr2:205722627-205722627;G/A missense_variant False NRP2@p.D314N 1 0.360655738 ENSG00000118257 chr2:205726032-205726032;G/A missense_variant False NRP2@p.F249C 1 0.470588235 ENSG00000118257 chr2:205723866-205723866;T/G missense_variant False NRP2@p.G605E 1 0.4 ENSG00000118257 chr2:205749752-205749752;G/A missense_variant False NRP2@p.L879P 1 0.49122807 ENSG00000118257 chr2:205794898-205794898;T/C missense_variant False NRIP1@p.K385T 1 0.510948905 ENSG00000180530 chr21:14967039-14967039;T/G missense_variant False NRIP1@p.E704K 1 0.405063291 ENSG00000180530 chr21:14966083-14966083;C/T missense_variant False NRROS@p.D597N 1 0.197674419 ENSG00000174004 chr3:196661432-196661432;G/A missense_variant False NRDE2@p.E161Q 1 0.183544304 ENSG00000119720 chr14:90312470-90312470;C/G missense_variant False NRDE2@p.S725L 1 0.166666667 ENSG00000119720 chr14:90290276-90290276;G/A missense_variant False NRDE2@p.S247L 1 0.22147651 ENSG00000119720 chr14:90304200-90304200;G/A missense_variant False NRDE2@p.L179V 1 0.278571429 ENSG00000119720 chr14:90312416-90312416;G/C missense_variant False NRDE2@p.H848Y 1 0.315789474 ENSG00000119720 chr14:90288833-90288833;G/A missense_variant False NRDE2@p.F502L 1 0.662337662 ENSG00000119720 chr14:90301278-90301278;G/C missense_variant False NRDE2@p.E292K 1 0.446666667 ENSG00000119720 chr14:90304066-90304066;C/T missense_variant False NRDE2@p.E1146K 1 0.311111111 ENSG00000119720 chr14:90278395-90278395;C/T missense_variant False NRIP1@p.D735N 1 0.186046512 ENSG00000180530 chr21:14965990-14965990;C/T missense_variant False NRDC@p.Q601H 1 0.111801242 ENSG00000078618 chr1:51814571-51814571;C/G missense_variant False NRDC@p.L778V 1 0.276595745 ENSG00000078618 chr1:51805544-51805544;G/C missense_variant False NRDC@p.L552F 1 0.259259259 ENSG00000078618 chr1:51814803-51814803;G/A missense_variant False NRDC@p.I502M 1 0.166666667 ENSG00000078618 chr1:51818125-51818125;G/C missense_variant False NRDC@p.E817K 1 0.185714286 ENSG00000078618 chr1:51803882-51803882;C/T missense_variant False NRDC@p.E685K 1 0.240740741 ENSG00000078618 chr1:51810335-51810335;C/T missense_variant False NREP@p.Y3S 1 0.472527473 ENSG00000134986 chr5:111735503-111735503;T/G missense_variant False NRF1@p.R125C 1 0.20083682 ENSG00000106459 chr7:129677666-129677666;C/T missense_variant False NRF1@p.T109A 1 0.078947368 ENSG00000106459 chr7:129671530-129671530;A/G missense_variant False NRG1@p.A467V 1 0.345238095 ENSG00000157168 chr8:32763879-32763879;C/T missense_variant False NRG1@p.G27D 1 0.25 ENSG00000157168 chr8:31640505-31640505;G/A missense_variant False NRG1@p.I318M 1 0.209302326 ENSG00000157168 chr8:32759329-32759329;C/G missense_variant False NRG1@p.Q213H 1 0.239130435 ENSG00000157168 chr8:32742014-32742014;A/T missense_variant False NRG1@p.Q529K 1 0.289473684 ENSG00000157168 chr8:32764064-32764064;C/A missense_variant False NRG1@p.R98S 1 0.320987654 ENSG00000157168 chr8:32605575-32605575;C/A missense_variant False NRG1@p.V114A 1 0.393442623 ENSG00000157168 chr8:32605624-32605624;T/C missense_variant False NRG2@p.S494C 1 0.471698113 ENSG00000158458 chr5:139852495-139852495;G/C missense_variant False NRG3@p.D667Y 1 0.3 ENSG00000185737 chr10:82985441-82985441;G/T missense_variant False NRG3@p.E303Q 1 0.274725275 ENSG00000185737 chr10:82358822-82358822;G/C missense_variant False NRG3@p.G615E 1 0.388235294 ENSG00000185737 chr10:82985286-82985286;G/A missense_variant False NRG3@p.I664F 1 0.051282051 ENSG00000185737 chr10:82985432-82985432;A/T missense_variant False NRG3@p.P211S 1 0.277777778 ENSG00000185737 chr10:81875971-81875971;C/T missense_variant False NRG4@p.E38K 1 0.152173913 ENSG00000169752 chr15:75961967-75961967;C/T missense_variant False NRP2@p.Q504L 1 0.410526316 ENSG00000118257 chr2:205743422-205743422;A/T missense_variant False NRROS@p.H259D 1 0.05952381 ENSG00000174004 chr3:196660418-196660418;C/G missense_variant False NSD2@p.K251T 1 0.425742574 ENSG00000109685 chr4:1904370-1904370;A/C missense_variant False NSD1@p.D454N 1 0.273684211 ENSG00000165671 chr5:177209759-177209759;G/A missense_variant False NSD1@p.E2284Q 1 0.295454545 ENSG00000165671 chr5:177294218-177294218;G/C missense_variant False NSD1@p.E1617K 1 0.126984127 ENSG00000165671 chr5:177257034-177257034;G/A missense_variant False NSD1@p.E154Q 1 0.160305344 ENSG00000165671 chr5:177135563-177135563;G/C missense_variant False NSD1@p.E1390Q 1 0.24 ENSG00000165671 chr5:177238483-177238483;G/C missense_variant False NSD1@p.E1130Q 1 1.0 ENSG00000165671 chr5:177211787-177211787;G/C missense_variant False NSD1@p.D650G 1 0.617021277 ENSG00000165671 chr5:177210348-177210348;A/G missense_variant False NSD1@p.D161N 1 0.375 ENSG00000165671 chr5:177135584-177135584;G/A missense_variant False NRXN3@p.D414H 1 0.241935484 ENSG00000021645 chr14:78709235-78709235;G/C missense_variant False NSD1@p.D1118N 1 0.084337349 ENSG00000165671 chr5:177211751-177211751;G/A missense_variant False NSA2@p.S97F 1 0.186206897 ENSG00000164346 chr5:74769312-74769312;C/T missense_variant False NRXN3@p.Y457C 1 0.32967033 ENSG00000021645 chr14:78709365-78709365;A/G missense_variant False NRXN3@p.S229C 1 0.390625 ENSG00000021645 chr14:79697714-79697714;C/G missense_variant False NRXN3@p.M692I 1 0.377777778 ENSG00000021645 chr14:78803651-78803651;G/C missense_variant False NRXN3@p.I817V 1 0.586956522 ENSG00000021645 chr14:78966078-78966078;A/G missense_variant False NSD1@p.G202D 1 0.361445783 ENSG00000165671 chr5:177135708-177135708;G/A missense_variant False NSD1@p.I1907V 1 0.486842105 ENSG00000165671 chr5:177280661-177280661;A/G missense_variant False NSD1@p.K1825N 1 0.257575758 ENSG00000165671 chr5:177269773-177269773;G/C missense_variant False NSD1@p.M1628Nfs*20 1 0.605263158 ENSG00000165671 chr5:177257066-177257067;-/A frameshift_variant False NSD1@p.N576Kfs*8 1 0.158730159 ENSG00000165671 chr5:177210120-177210121;-/A frameshift_variant False NSD1@p.N706Kfs*12 1 0.368421053 ENSG00000165671 chr5:177210514-177210515;-/A frameshift_variant False NSD1@p.Q973H 1 0.116883117 ENSG00000165671 chr5:177211318-177211318;G/C missense_variant False NSD1@p.R1984L 1 0.405263158 ENSG00000165671 chr5:177282523-177282523;G/T missense_variant False NSD1@p.R2633W 1 0.095238095 ENSG00000165671 chr5:177295265-177295265;C/T missense_variant False NSD1@p.R788P 1 0.3 ENSG00000165671 chr5:177210762-177210762;G/C missense_variant False NSD1@p.S1229L 1 0.409090909 ENSG00000165671 chr5:177212085-177212085;C/T missense_variant False NSD1@p.S2599A 1 0.272727273 ENSG00000165671 chr5:177295163-177295163;T/G missense_variant False NSD2@p.H263Y 1 0.465517241 ENSG00000109685 chr4:1916897-1916897;C/T missense_variant False NSD2@p.H825P 1 0.213114754 ENSG00000109685 chr4:1955296-1955296;A/C missense_variant False NSD2@p.I1106M 1 0.269230769 ENSG00000109685 chr4:1961097-1961097;C/G missense_variant False NSD2@p.I994M 1 0.379844961 ENSG00000109685 chr4:1958033-1958033;C/G missense_variant False NSD2@p.K229E 1 0.241935484 ENSG00000109685 chr4:1904303-1904303;A/G missense_variant False NRXN3@p.D732Y 1 0.405405405 ENSG00000021645 chr14:78803769-78803769;G/T missense_variant False NRXN3@p.A567D 1 0.296610169 ENSG00000021645 chr14:78714795-78714795;C/A missense_variant False NRROS@p.R184W 1 0.09375 ENSG00000174004 chr3:196660193-196660193;C/T missense_variant False NRXN1@p.E796Q 1 0.285714286 ENSG00000179915 chr2:50506606-50506606;C/G missense_variant False NRXN1@p.M1422V 1 0.432432432 ENSG00000179915 chr2:49922114-49922114;T/C missense_variant False NRXN1@p.I1009T 1 0.551724138 ENSG00000179915 chr2:50495949-50495949;A/G missense_variant False NRXN1@p.H577Y 1 0.050505051 ENSG00000179915 chr2:50552617-50552617;G/A missense_variant False NRXN1@p.G949A 1 0.0625 ENSG00000179915 chr2:50497366-50497366;C/G missense_variant False NRXN1@p.G347E 1 0.315436242 ENSG00000179915 chr2:50623408-50623408;C/T missense_variant False NRXN1@p.G252Afs*17 1 0.333333333 ENSG00000179915 chr2:51027519-51027519;C/- frameshift_variant False NRXN1@p.E1202Q 1 0.170886076 ENSG00000179915 chr2:50091437-50091437;C/G missense_variant False NRXN2@p.T1698M 1 0.224489796 ENSG00000110076 chr11:64607242-64607242;G/A missense_variant False NRXN1@p.D889N 1 0.090909091 ENSG00000179915 chr2:50497547-50497547;C/T missense_variant False NRXN1@p.D1150N 1 0.435185185 ENSG00000179915 chr2:50236887-50236887;C/T missense_variant False NRXN1@p.A904Qfs*15 1 0.384615385 ENSG00000179915 chr2:50497502-50497502;C/- frameshift_variant False NRTN@p.S15G 1 0.260869565 ENSG00000171119 chr19:5824208-5824208;A/G missense_variant False NRSN1@p.T70I 1 0.162162162 ENSG00000152954 chr6:24145567-24145567;C/T missense_variant False NRSN1@p.E95K 1 0.183098592 ENSG00000152954 chr6:24145641-24145641;G/A missense_variant False NRXN1@p.M321I 1 0.111111111 ENSG00000179915 chr2:50623485-50623485;C/T missense_variant False NRXN1@p.Q1314E 1 0.609625668 ENSG00000179915 chr2:50053369-50053369;G/C missense_variant False NRXN1@p.R1334K 1 0.6 ENSG00000179915 chr2:50053308-50053308;C/T missense_variant False NRXN1@p.S558Qfs*4 1 0.230769231 ENSG00000179915 chr2:50552675-50552675;C/- frameshift_variant False NRXN1@p.S748Y 1 0.314285714 ENSG00000179915 chr2:50531331-50531331;G/T missense_variant False NRXN1@p.V469L 1 0.191304348 ENSG00000179915 chr2:50552941-50552941;C/A missense_variant False NRXN1@p.W496L 1 0.411764706 ENSG00000179915 chr2:50552859-50552859;C/A missense_variant False NRXN1@p.W632C 1 0.096491228 ENSG00000179915 chr2:50538500-50538500;C/G missense_variant False NRXN2@p.D312N 1 0.146788991 ENSG00000110076 chr11:64685864-64685864;C/T missense_variant False NRXN2@p.E587K 1 0.213592233 ENSG00000110076 chr11:64667289-64667289;C/T missense_variant False NRXN2@p.E675K 1 0.269230769 ENSG00000110076 chr11:64660915-64660915;C/T missense_variant False NRXN2@p.F426L 1 0.064705882 ENSG00000110076 chr11:64668524-64668524;G/C missense_variant False NRXN2@p.G1073R 1 0.397058824 ENSG00000110076 chr11:64648800-64648800;C/T missense_variant False NRXN2@p.P1471L 1 0.8 ENSG00000110076 chr11:64607923-64607923;G/A missense_variant False NRXN2@p.P507T 1 0.448979592 ENSG00000110076 chr11:64667529-64667529;G/T missense_variant False NRXN2@p.R700C 1 0.566666667 ENSG00000110076 chr11:64660840-64660840;G/A missense_variant False NRXN2@p.S547F 1 0.119047619 ENSG00000110076 chr11:64667408-64667408;G/A missense_variant False OGDH@p.E265Q 1 0.223300971 ENSG00000105953 chr7:44674415-44674415;G/C missense_variant False OGDH@p.E576K 1 0.285714286 ENSG00000105953 chr7:44696082-44696082;G/A missense_variant False OGDH@p.G86A 1 0.206896552 ENSG00000105953 chr7:44645361-44645361;G/C missense_variant False OR51G1@p.R92T 1 0.631578947 ENSG00000278870 chr11:4924065-4924065;C/G missense_variant False OR51I1@p.M277I 1 0.236842105 ENSG00000167359 chr11:5440684-5440684;C/G missense_variant False OR51G2@p.V13I 1 0.191919192 ENSG00000176893 chr11:4915627-4915627;C/T missense_variant False OR51G2@p.S118F 1 0.9 ENSG00000176893 chr11:4915311-4915311;G/A missense_variant False OR51G2@p.E26Q 1 0.2 ENSG00000176893 chr11:4915588-4915588;C/G missense_variant False OR51G2@p.C184F 1 0.270833333 ENSG00000176893 chr11:4915113-4915113;C/A missense_variant False OR51G2@p.C102Y 1 0.235294118 ENSG00000176893 chr11:4915359-4915359;C/T missense_variant False OR51G1@p.Q300K 1 0.271186441 ENSG00000278870 chr11:4923442-4923442;G/T missense_variant False OR51I2@p.D183H 1 0.452991453 ENSG00000187918 chr11:5454035-5454035;G/C missense_variant False OR51G1@p.C142R 1 0.208333333 ENSG00000278870 chr11:4923916-4923916;A/G missense_variant False OR51F2@p.I328T 1 0.2 ENSG00000176925 chr11:4822404-4822404;T/C missense_variant False OR51F2@p.F14V 1 0.094594595 ENSG00000176925 chr11:4821461-4821461;T/G missense_variant False OR51F2@p.E235D 1 0.446428571 ENSG00000176925 chr11:4822126-4822126;G/C missense_variant False OR51F1@p.I300V 1 0.455782313 ENSG00000280021 chr11:4769041-4769041;T/C missense_variant False OR51E2@p.V48I 1 0.456521739 ENSG00000167332 chr11:4682570-4682570;C/T missense_variant False OR51I1@p.S261A 1 0.181818182 ENSG00000167359 chr11:5440734-5440734;A/C missense_variant False OR51I2@p.D183Rfs*9 1 0.397435897 ENSG00000187918 chr11:5454030-5454031;-/C frameshift_variant False OR4A15@p.L64S 1 0.876712329 ENSG00000181958 chr11:55368164-55368164;T/C missense_variant False OR51S1@p.E199Q 1 0.466666667 ENSG00000176922 chr11:4848614-4848614;C/G missense_variant False OR51V1@p.R93P 1 0.292682927 ENSG00000176742 chr11:5200405-5200405;C/G missense_variant False OR51S1@p.V82D 1 0.247311828 ENSG00000176922 chr11:4848964-4848964;A/T missense_variant False OR51S1@p.R65H 1 0.094202899 ENSG00000176922 chr11:4849015-4849015;C/T missense_variant False OR51S1@p.P168S 1 0.054545455 ENSG00000176922 chr11:4848707-4848707;G/A missense_variant False OR51S1@p.I156M 1 0.173913043 ENSG00000176922 chr11:4848741-4848741;A/C missense_variant False OR51S1@p.G202V 1 0.173913043 ENSG00000176922 chr11:4848604-4848604;C/A missense_variant False OR51Q1@p.N226Kfs*10 1 0.175925926 ENSG00000167360 chr11:5422872-5422873;-/A frameshift_variant False OR51I2@p.G29W 1 0.302325581 ENSG00000187918 chr11:5453573-5453573;G/T missense_variant False OR51Q1@p.I209S 1 0.304347826 ENSG00000167360 chr11:5422826-5422826;T/G missense_variant False OR51Q1@p.A285S 1 0.137931034 ENSG00000167360 chr11:5423053-5423053;G/T missense_variant False OR51M1@p.S52L 1 0.257142857 ENSG00000184698 chr11:5389553-5389553;C/T missense_variant False OR51L1@p.Q300H 1 0.323076923 ENSG00000176798 chr11:4999882-4999882;G/T missense_variant False OR51L1@p.G259W 1 0.361702128 ENSG00000176798 chr11:4999757-4999757;G/T missense_variant False OR51L1@p.E235Q 1 0.171428571 ENSG00000176798 chr11:4999685-4999685;G/C missense_variant False OR51E2@p.P128Q 1 0.353846154 ENSG00000167332 chr11:4682329-4682329;G/T missense_variant False OR51E2@p.G245D 1 0.552631579 ENSG00000167332 chr11:4681978-4681978;C/T missense_variant False OR51E2@p.D311H 1 0.23255814 ENSG00000167332 chr11:4681781-4681781;C/G missense_variant False OR4X2@p.G233E 1 0.160714286 ENSG00000172208 chr11:48245801-48245801;G/A missense_variant False OR51A4@p.L283F 1 0.583333333 ENSG00000205497 chr11:4946254-4946254;G/A missense_variant False OR51A2@p.S85N 1 0.155172414 ENSG00000205496 chr11:4955460-4955460;C/T missense_variant False OR4X2@p.Q131P 1 0.062937063 ENSG00000172208 chr11:48245495-48245495;A/C missense_variant False OR4X2@p.P276S 1 0.361702128 ENSG00000172208 chr11:48245929-48245929;C/T missense_variant False OR4X2@p.L241V 1 0.628571429 ENSG00000172208 chr11:48245824-48245824;T/G missense_variant False OR4X2@p.L154F 1 0.3125 ENSG00000172208 chr11:48245563-48245563;C/T missense_variant False OR4X2@p.D183N 1 0.054140127 ENSG00000172208 chr11:48245650-48245650;G/A missense_variant False OR51E2@p.A95V 1 0.15 ENSG00000167332 chr11:4682428-4682428;G/A missense_variant False OR4X1@p.S91F 1 0.147058824 ENSG00000176567 chr11:48264132-48264132;C/T missense_variant False OR4X1@p.S91C 1 0.283333333 ENSG00000176567 chr11:48264132-48264132;C/G missense_variant False OR4X1@p.S154F 1 0.212765957 ENSG00000176567 chr11:48264321-48264321;C/T missense_variant False OR4X1@p.D173Y 1 0.126984127 ENSG00000176567 chr11:48264377-48264377;G/T missense_variant False OR4S2@p.V148L 1 0.240909091 ENSG00000174982 chr11:55651345-55651345;G/T missense_variant False OR4S2@p.S222F 1 0.382857143 ENSG00000174982 chr11:55651568-55651568;C/T missense_variant False OR51A4@p.S192F 1 0.392857143 ENSG00000205497 chr11:4946526-4946526;G/A missense_variant False OR51A7@p.L4F 1 0.145833333 ENSG00000176895 chr11:4907379-4907379;C/T missense_variant False OR51A7@p.S54L 1 0.19 ENSG00000176895 chr11:4907530-4907530;C/T missense_variant False OR51A7@p.V141D 1 0.24691358 ENSG00000176895 chr11:4907791-4907791;T/A missense_variant False OR51B2@p.A175V 1 0.329113924 ENSG00000279012 chr11:5323774-5323774;G/A missense_variant False OR51B2@p.I248M 1 0.155172414 ENSG00000279012 chr11:5323554-5323554;G/C missense_variant False OR51B2@p.L210P 1 0.392857143 ENSG00000279012 chr11:5323669-5323669;A/G missense_variant False OR51B2@p.S306Y 1 0.46875 ENSG00000279012 chr11:5323381-5323381;G/T missense_variant False OR51B4@p.L44V 1 0.230769231 ENSG00000183251 chr11:5301817-5301817;G/C missense_variant False OR51B6@p.I211N 1 0.635294118 ENSG00000176239 chr11:5352139-5352139;T/A missense_variant False OR51B6@p.L128S 1 0.175925926 ENSG00000176239 chr11:5351890-5351890;T/C missense_variant False OR51D1@p.A247V 1 0.101123596 ENSG00000197428 chr11:4640530-4640530;C/T missense_variant False OR51D1@p.F251L 1 0.244274809 ENSG00000197428 chr11:4640543-4640543;C/G missense_variant False OR51D1@p.S125L 1 0.606060606 ENSG00000197428 chr11:4640164-4640164;C/T missense_variant False OR51D1@p.S160F 1 0.488888889 ENSG00000197428 chr11:4640269-4640269;C/T missense_variant False OR51E1@p.I301N 1 0.324074074 ENSG00000180785 chr11:4653428-4653428;T/A missense_variant False OR51E1@p.V276I 1 0.385964912 ENSG00000180785 chr11:4653352-4653352;G/A missense_variant False OR51V1@p.S137F 1 0.813953488 ENSG00000176742 chr11:5200273-5200273;G/A missense_variant False OR52A1@p.Q145H 1 0.320512821 ENSG00000182070 chr11:5151935-5151935;C/G missense_variant False OR52A5@p.D97H 1 0.76 ENSG00000171944 chr11:5132354-5132354;C/G missense_variant False OR52N5@p.E120Q 1 0.428571429 ENSG00000181009 chr11:5778277-5778277;C/G missense_variant False OR56A1@p.I129M 1 0.333333333 ENSG00000180934 chr11:6027306-6027306;G/C missense_variant False OR56A1@p.F23L 1 0.92 ENSG00000180934 chr11:6027624-6027624;G/T missense_variant False OR52W1@p.P138S 1 0.477272727 ENSG00000175485 chr11:6199635-6199635;C/T missense_variant False OR52R1@p.S14P 1 0.461538462 ENSG00000279270 chr11:4804341-4804341;A/G missense_variant False OR52N5@p.Y43F 1 0.551020408 ENSG00000181009 chr11:5778507-5778507;T/A missense_variant False OR52N5@p.I309M 1 0.803030303 ENSG00000181009 chr11:5777708-5777708;T/C missense_variant False OR52N4@p.N5T 1 0.967741935 ENSG00000181074 chr11:5754754-5754754;A/C missense_variant False OR52K2@p.I259M 1 0.220588235 ENSG00000181963 chr11:4450116-4450116;C/G missense_variant False OR52N4@p.I29V 1 0.285714286 ENSG00000181074 chr11:5754825-5754825;A/G missense_variant False OR52N2@p.T136I 1 0.274509804 ENSG00000180988 chr11:5820742-5820742;C/T missense_variant False OR52N2@p.F33L 1 0.593220339 ENSG00000180988 chr11:5820434-5820434;C/G missense_variant False OR52N1@p.D95N 1 0.409090909 ENSG00000181001 chr11:5788534-5788534;C/T missense_variant False OR52L1@p.S94C 1 0.5625 ENSG00000183313 chr11:5986650-5986650;G/C missense_variant False OR52L1@p.S5C 1 0.285714286 ENSG00000183313 chr11:5986917-5986917;G/C missense_variant False OR56A1@p.Q311H 1 0.142857143 ENSG00000180934 chr11:6026760-6026760;C/G missense_variant False OR56A3@p.C20Y 1 0.27027027 ENSG00000184478 chr11:5947405-5947405;G/A missense_variant False OR56A3@p.M159I 1 0.197368421 ENSG00000184478 chr11:5947823-5947823;G/A missense_variant False OR56A4@p.I147M 1 0.186440678 ENSG00000183389 chr11:6002708-6002708;G/C missense_variant False OR56A4@p.P134A 1 0.107692308 ENSG00000183389 chr11:6002749-6002749;G/C missense_variant False OR56A4@p.S218F 1 0.242424242 ENSG00000183389 chr11:6002496-6002496;G/A missense_variant False OR56A4@p.S55F 1 0.407407407 ENSG00000183389 chr11:6002985-6002985;G/A missense_variant False OR56A4@p.V327G 1 0.238095238 ENSG00000183389 chr11:6002169-6002169;A/C missense_variant False OR56B1@p.L222V 1 0.76 ENSG00000181023 chr11:5737180-5737180;C/G missense_variant False OR56B4@p.A44V 1 0.122807018 ENSG00000180919 chr11:6107909-6107909;C/T missense_variant False OR56B4@p.I167L 1 0.32967033 ENSG00000180919 chr11:6108277-6108277;A/T missense_variant False OR56B4@p.L305Q 1 0.517857143 ENSG00000180919 chr11:6108692-6108692;T/A missense_variant False OR56B4@p.Q106E 1 0.047619048 ENSG00000180919 chr11:6108094-6108094;C/G missense_variant False OR5A1@p.E114K 1 0.201183432 ENSG00000172320 chr11:59443508-59443508;G/A missense_variant False OR5A1@p.L112M 1 0.27184466 ENSG00000172320 chr11:59443502-59443502;C/A missense_variant False OR5A1@p.S233L 1 0.406451613 ENSG00000172320 chr11:59443866-59443866;C/T missense_variant False OR5A1@p.S77Y 1 0.489361702 ENSG00000172320 chr11:59443398-59443398;C/A missense_variant False OR52K2@p.Q233E 1 0.489795918 ENSG00000181963 chr11:4450036-4450036;C/G missense_variant False OR52K2@p.F33L 1 0.147887324 ENSG00000181963 chr11:4449438-4449438;C/G missense_variant False OR52A5@p.K239N 1 0.238095238 ENSG00000171944 chr11:5131926-5131926;C/A missense_variant False OR52B6@p.L206V 1 0.198895028 ENSG00000187747 chr11:5581492-5581492;C/G missense_variant False OR52E4@p.F87L 1 0.273333333 ENSG00000180974 chr11:5884553-5884553;C/G missense_variant False OR52E2@p.S218C 1 0.202898551 ENSG00000176787 chr11:5058975-5058975;G/C missense_variant False OR52E2@p.R92K 1 0.15 ENSG00000176787 chr11:5059353-5059353;C/T missense_variant False OR52D1@p.S233F 1 0.194029851 ENSG00000181609 chr11:5489404-5489404;C/T missense_variant False OR52D1@p.L88F 1 0.490909091 ENSG00000181609 chr11:5488970-5488970;G/C missense_variant False OR52B6@p.Q42P 1 0.380952381 ENSG00000187747 chr11:5581001-5581001;A/C missense_variant False OR52B6@p.I45M 1 0.441860465 ENSG00000187747 chr11:5581011-5581011;C/G missense_variant False OR52K1@p.S261L 1 0.136 ENSG00000196778 chr11:4489682-4489682;C/T missense_variant False OR52B6@p.D115H 1 0.253333333 ENSG00000187747 chr11:5581219-5581219;G/C missense_variant False OR52B4@p.R268C 1 0.203539823 ENSG00000221996 chr11:4367494-4367494;G/A missense_variant False OR52B4@p.L142V 1 0.306122449 ENSG00000221996 chr11:4367872-4367872;G/C missense_variant False OR52B4@p.H237Q 1 0.087912088 ENSG00000221996 chr11:4367585-4367585;G/C missense_variant False OR52B2@p.A98T 1 0.206521739 ENSG00000255307 chr11:6170035-6170035;C/T missense_variant False OR52A5@p.M10T 1 0.75 ENSG00000171944 chr11:5132614-5132614;A/G missense_variant False OR52E4@p.I273V 1 0.139344262 ENSG00000180974 chr11:5885109-5885109;A/G missense_variant False OR52E4@p.R264G 1 0.26744186 ENSG00000180974 chr11:5885082-5885082;C/G missense_variant False OR52E4@p.V151F 1 0.366197183 ENSG00000180974 chr11:5884743-5884743;G/T missense_variant False OR52E6@p.F31L 1 0.343283582 ENSG00000205409 chr11:5841805-5841805;G/C missense_variant False OR52E8@p.D127N 1 0.119047619 ENSG00000183269 chr11:5857324-5857324;C/T missense_variant False OR52E8@p.I198M 1 0.148760331 ENSG00000183269 chr11:5857109-5857109;G/C missense_variant False OR52E8@p.L172M 1 0.593984962 ENSG00000183269 chr11:5857189-5857189;G/T missense_variant False OR52E8@p.R310S 1 0.153846154 ENSG00000183269 chr11:5856773-5856773;C/A missense_variant False OR52H1@p.L215I 1 0.545454545 ENSG00000181616 chr11:5544863-5544863;G/T missense_variant False OR52H1@p.L307I 1 0.168421053 ENSG00000181616 chr11:5544587-5544587;G/T missense_variant False OR52H1@p.M292K 1 0.285714286 ENSG00000181616 chr11:5544631-5544631;A/T missense_variant False OR52I1@p.Q143E 1 0.814814815 ENSG00000232268 chr11:4594465-4594465;C/G missense_variant False OR52I1@p.S208C 1 0.266666667 ENSG00000232268 chr11:4594661-4594661;C/G missense_variant False OR52I2@p.R331W 1 0.138461538 ENSG00000226288 chr11:4587803-4587803;C/T missense_variant False OR52J3@p.R167C 1 0.320512821 ENSG00000205495 chr11:5047024-5047024;C/T missense_variant False OR52K1@p.F33Sfs*10 1 0.47752809 ENSG00000196778 chr11:4488997-4488997;T/- frameshift_variant False OR52K1@p.K312N 1 0.422018349 ENSG00000196778 chr11:4489836-4489836;G/T missense_variant False OR4S2@p.I90T 1 0.394230769 ENSG00000174982 chr11:55651172-55651172;T/C missense_variant False OR4S2@p.I36M 1 0.289156627 ENSG00000174982 chr11:55651011-55651011;T/G missense_variant False OR4S1@p.T74S 1 0.083333333 ENSG00000176555 chr11:48306443-48306443;C/G missense_variant False OR4C3@p.R23T 1 0.40625 ENSG00000176547 chr11:48325089-48325089;G/C missense_variant False OR4C46@p.M131I 1 0.37704918 ENSG00000185926 chr11:54603606-54603606;C/G missense_variant False OR4C46@p.I34S 1 0.366666667 ENSG00000185926 chr11:54603898-54603898;A/C missense_variant False OR4C46@p.I219M 1 0.280701754 ENSG00000185926 chr11:54603342-54603342;G/C missense_variant False OR4C46@p.F248S 1 0.214285714 ENSG00000185926 chr11:54603256-54603256;A/G missense_variant False OR4C46@p.A260E 1 0.302325581 ENSG00000185926 chr11:54603220-54603220;G/T missense_variant False OR4C3@p.T52M 1 0.62745098 ENSG00000176547 chr11:48325176-48325176;C/T missense_variant False OR4C3@p.L61Pfs*8 1 0.181818182 ENSG00000176547 chr11:48325194-48325195;-/T frameshift_variant False OR4C15@p.T243N 1 0.137931034 ENSG00000181939 chr11:55555034-55555034;C/A missense_variant False OR4C16@p.Y209S 1 0.265625 ENSG00000279514 chr11:55572753-55572753;A/C missense_variant False OR4C16@p.V141G 1 0.305389222 ENSG00000279514 chr11:55572549-55572549;T/G missense_variant False OR4C16@p.N194Y 1 0.127906977 ENSG00000279514 chr11:55572707-55572707;A/T missense_variant False OR4C16@p.K22N 1 0.138461538 ENSG00000279514 chr11:55572193-55572193;G/C missense_variant False OR4C16@p.E94K 1 0.211656442 ENSG00000279514 chr11:55572407-55572407;G/A missense_variant False OR4C16@p.D307Y 1 0.318181818 ENSG00000279514 chr11:55573046-55573046;G/T missense_variant False OR4C6@p.A270S 1 0.625 ENSG00000181903 chr11:55665974-55665974;G/T missense_variant False OR4C6@p.D173Y 1 0.12972973 ENSG00000181903 chr11:55665683-55665683;G/T missense_variant False OR4C6@p.E17D 1 0.327272727 ENSG00000181903 chr11:55665217-55665217;G/T missense_variant False OR4C6@p.E39K 1 0.525423729 ENSG00000181903 chr11:55665281-55665281;G/A missense_variant False OR4C6@p.F248Y 1 0.171052632 ENSG00000181903 chr11:55665909-55665909;T/A missense_variant False OR4C6@p.N5S 1 0.133928571 ENSG00000181903 chr11:55665180-55665180;A/G missense_variant False OR4D10@p.P171H 1 0.172043011 ENSG00000254466 chr11:59477941-59477941;C/A missense_variant False OR4D10@p.S93F 1 0.207317073 ENSG00000254466 chr11:59477707-59477707;C/T missense_variant False OR4D11@p.D111H 1 0.315789474 ENSG00000176200 chr11:59503906-59503906;G/C missense_variant False OR4D11@p.K302N 1 0.458333333 ENSG00000176200 chr11:59504481-59504481;G/C missense_variant False OR4D11@p.L166F 1 0.236514523 ENSG00000176200 chr11:59504071-59504071;C/T missense_variant False OR4D11@p.M98I 1 0.310043668 ENSG00000176200 chr11:59503869-59503869;G/A missense_variant False OR4D11@p.R304T 1 0.333333333 ENSG00000176200 chr11:59504486-59504486;G/C missense_variant False OR4D2@p.I92M 1 0.328125 ENSG00000255713 chr17:58169931-58169931;C/G missense_variant False OR4D5@p.F31L 1 0.109289617 ENSG00000171014 chr11:123939709-123939709;C/A missense_variant False OR4D5@p.R263W 1 0.462068966 ENSG00000171014 chr11:123940403-123940403;C/T missense_variant False OR4D6@p.D121N 1 0.376623377 ENSG00000166884 chr11:59457321-59457321;G/A missense_variant False OR4C15@p.V163L 1 0.124293785 ENSG00000181939 chr11:55554793-55554793;G/T missense_variant False OR4C15@p.N72I 1 0.25984252 ENSG00000181939 chr11:55554521-55554521;A/T missense_variant False OR4D9@p.I216V 1 0.278688525 ENSG00000172742 chr11:59515558-59515558;A/G missense_variant False OR4A16@p.R120H 1 0.450292398 ENSG00000181961 chr11:55343559-55343559;G/A missense_variant False OR4A47@p.P181A 1 0.048192771 ENSG00000237388 chr11:48489333-48489333;C/G missense_variant False OR4A47@p.F32L 1 0.12195122 ENSG00000237388 chr11:48488888-48488888;C/G missense_variant False OR4A47@p.D189H 1 0.190909091 ENSG00000237388 chr11:48489357-48489357;G/C missense_variant False OR4A16@p.S322F 1 0.357142857 ENSG00000181961 chr11:55344165-55344165;C/T missense_variant False OR4A16@p.R258T 1 0.577777778 ENSG00000181961 chr11:55343973-55343973;G/C missense_variant False OR4A16@p.R120L 1 0.592592593 ENSG00000181961 chr11:55343559-55343559;G/T missense_variant False OR4A16@p.R120C 1 0.590361446 ENSG00000181961 chr11:55343558-55343558;C/T missense_variant False OR4C15@p.M351I 1 0.435897436 ENSG00000181939 chr11:55555359-55555359;G/T missense_variant False OR4A16@p.M206I 1 0.123893805 ENSG00000181961 chr11:55343818-55343818;G/A missense_variant False OR4A16@p.M179T 1 0.403508772 ENSG00000181961 chr11:55343736-55343736;T/C missense_variant False OR4A16@p.D82Y 1 0.150537634 ENSG00000181961 chr11:55343444-55343444;G/T missense_variant False OR4A16@p.D20E 1 0.4 ENSG00000181961 chr11:55343260-55343260;T/A missense_variant False OR4A15@p.T262A 1 0.229437229 ENSG00000181958 chr11:55368757-55368757;A/G missense_variant False OR4A15@p.S301C 1 0.325203252 ENSG00000181958 chr11:55368874-55368874;A/T missense_variant False OR4A47@p.R288I 1 0.455696203 ENSG00000237388 chr11:48489655-48489655;G/T missense_variant False OR4A47@p.V148Lfs*36 1 0.22972973 ENSG00000237388 chr11:48489232-48489232;G/- frameshift_variant False OR4A5@p.P250H 1 0.372881356 ENSG00000221840 chr11:54707633-54707633;C/A missense_variant False OR4A5@p.T276I 1 0.196078431 ENSG00000221840 chr11:54707711-54707711;C/T missense_variant False OR4B1@p.F100L 1 0.129032258 ENSG00000175619 chr11:48217109-48217109;C/A missense_variant False OR4B1@p.L128V 1 0.317829457 ENSG00000175619 chr11:48217191-48217191;C/G missense_variant False OR4B1@p.S208C 1 0.229885057 ENSG00000175619 chr11:48217432-48217432;C/G missense_variant False OR4B1@p.S55F 1 0.116666667 ENSG00000175619 chr11:48216973-48216973;C/T missense_variant False OR4C11@p.I172N 1 0.824324324 ENSG00000172188 chr11:55603859-55603859;A/T missense_variant False OR4C12@p.L152H 1 0.304635762 ENSG00000221954 chr11:49982047-49982047;A/T missense_variant False OR4C12@p.T262S 1 0.513513514 ENSG00000221954 chr11:49981718-49981718;T/A missense_variant False OR4C13@p.I183F 1 0.531914894 ENSG00000258817 chr11:49952969-49952969;A/T missense_variant False OR4C13@p.I242M 1 0.147435897 ENSG00000258817 chr11:49953148-49953148;C/G missense_variant False OR4C13@p.L280* 1 0.189189189 ENSG00000258817 chr11:49953260-49953260;T/- frameshift_variant False OR4C13@p.L64F 1 0.094915254 ENSG00000258817 chr11:49952612-49952612;C/T missense_variant False OR4C15@p.K288E 1 0.198630137 ENSG00000181939 chr11:55555168-55555168;A/G missense_variant False OR4C15@p.M151I 1 0.384615385 ENSG00000181939 chr11:55554759-55554759;G/A missense_variant False OR4D9@p.H56Y 1 0.245421245 ENSG00000172742 chr11:59515078-59515078;C/T missense_variant False OR4F15@p.F86L 1 0.190909091 ENSG00000182854 chr15:101818444-101818444;C/G missense_variant False OR4S1@p.M296I 1 0.264705882 ENSG00000176555 chr11:48307110-48307110;G/C missense_variant False OR4N2@p.I255M 1 0.122222222 ENSG00000176294 chr14:19828213-19828213;C/G missense_variant False OR4N2@p.V184L 1 0.127795527 ENSG00000176294 chr14:19827998-19827998;G/C missense_variant False OR4N2@p.S87F 1 0.146496815 ENSG00000176294 chr14:19827708-19827708;C/T missense_variant False OR4N2@p.R95T 1 0.118811881 ENSG00000176294 chr14:19827732-19827732;G/C missense_variant False OR4N2@p.R80Pfs*42 1 0.243967828 ENSG00000176294 chr14:19827682-19827683;-/C frameshift_variant False OR4N2@p.R263M 1 0.410071942 ENSG00000176294 chr14:19828236-19828236;G/T missense_variant False OR4N2@p.R122C 1 0.441025641 ENSG00000176294 chr14:19827812-19827812;C/T missense_variant False OR4N2@p.H243N 1 0.211864407 ENSG00000176294 chr14:19828175-19828175;C/A missense_variant False OR4M1@p.Q183H 1 0.092715232 ENSG00000176299 chr14:19780871-19780871;G/T missense_variant False OR4N2@p.F61L 1 0.103333333 ENSG00000176294 chr14:19827631-19827631;C/G missense_variant False OR4N2@p.A188S 1 0.037688442 ENSG00000176294 chr14:19828010-19828010;G/T missense_variant False OR4M1@p.Y60C 1 0.429447853 ENSG00000176299 chr14:19780501-19780501;A/G missense_variant False OR4M1@p.V184F 1 0.093959732 ENSG00000176299 chr14:19780872-19780872;G/T missense_variant False OR4M1@p.T48I 1 0.059006211 ENSG00000176299 chr14:19780465-19780465;C/T missense_variant False OR4M1@p.R262C 1 0.380952381 ENSG00000176299 chr14:19781106-19781106;C/T missense_variant False OR4N5@p.R128Q 1 0.154150198 ENSG00000184394 chr14:20144118-20144118;G/A missense_variant False OR4P4@p.E229D 1 0.321428571 ENSG00000181927 chr11:55639044-55639044;G/C missense_variant False OR4P4@p.F272L 1 0.9 ENSG00000181927 chr11:55639173-55639173;T/G missense_variant False OR4P4@p.I276F 1 0.422680412 ENSG00000181927 chr11:55639183-55639183;A/T missense_variant False OR4P4@p.K126R 1 0.28 ENSG00000181927 chr11:55638734-55638734;A/G missense_variant False OR4P4@p.L160V 1 0.107142857 ENSG00000181927 chr11:55638835-55638835;C/G missense_variant False OR4P4@p.L41S 1 0.366666667 ENSG00000181927 chr11:55638479-55638479;T/C missense_variant False OR4P4@p.M134I 1 0.058139535 ENSG00000181927 chr11:55638759-55638759;G/A missense_variant False OR4P4@p.M296K 1 0.137931034 ENSG00000181927 chr11:55639244-55639244;T/A missense_variant False OR4P4@p.S73F 1 0.316129032 ENSG00000181927 chr11:55638575-55638575;C/T missense_variant False OR4P4@p.Y33C 1 0.730769231 ENSG00000181927 chr11:55638455-55638455;A/G missense_variant False OR4Q3@p.F220I 1 0.2 ENSG00000182652 chr14:19748061-19748061;T/A missense_variant False OR4Q3@p.Y284C 1 0.22147651 ENSG00000182652 chr14:19748254-19748254;A/G missense_variant False OR4S1@p.A188V 1 0.568965517 ENSG00000176555 chr11:48306785-48306785;C/T missense_variant False OR4S1@p.E171V 1 0.142857143 ENSG00000176555 chr11:48306734-48306734;A/T missense_variant False OR4S1@p.G140V 1 0.1875 ENSG00000176555 chr11:48306641-48306641;G/T missense_variant False OR4S1@p.L42V 1 0.1375 ENSG00000176555 chr11:48306346-48306346;C/G missense_variant False OR4M1@p.R122C 1 0.294871795 ENSG00000176299 chr14:19780686-19780686;C/T missense_variant False OR4M1@p.P53S 1 0.146179402 ENSG00000176299 chr14:19780479-19780479;C/T missense_variant False OR4F17@p.L10F 1 0.096363636 ENSG00000176695 chr19:110706-110706;C/T missense_variant False OR4K15@p.L330P 1 0.4375 ENSG00000169488 chr14:19976507-19976507;T/C missense_variant False OR4K1@p.T239I 1 0.150537634 ENSG00000155249 chr14:19936382-19936382;C/T missense_variant False OR4K1@p.S308F 1 0.257731959 ENSG00000155249 chr14:19936589-19936589;C/T missense_variant False OR4K1@p.P266S 1 0.269230769 ENSG00000155249 chr14:19936462-19936462;C/T missense_variant False OR4K17@p.P280S 1 0.245283019 ENSG00000176230 chr14:20118337-20118337;C/T missense_variant False OR4K17@p.K186N 1 0.414893617 ENSG00000176230 chr14:20118057-20118057;G/C missense_variant False OR4K17@p.H155D 1 0.383647799 ENSG00000176230 chr14:20117962-20117962;C/G missense_variant False OR4K15@p.D292N 1 0.30952381 ENSG00000169488 chr14:19976392-19976392;G/A missense_variant False OR4M1@p.G152Afs*6 1 0.327868852 ENSG00000176299 chr14:19780772-19780772;G/- frameshift_variant False OR4K14@p.S233R 1 0.36 ENSG00000169484 chr14:20014495-20014495;G/T missense_variant False OR4K14@p.L207I 1 0.09375 ENSG00000169484 chr14:20014575-20014575;G/T missense_variant False OR4K13@p.F278Sfs*5 1 0.727272727 ENSG00000176253 chr14:20033926-20033926;A/- frameshift_variant False OR4F6@p.S32L 1 0.170731707 ENSG00000184140 chr15:101805814-101805814;C/T missense_variant False OR4F6@p.G232R 1 0.318181818 ENSG00000184140 chr15:101806413-101806413;G/C missense_variant False OR4F6@p.F234L 1 0.115044248 ENSG00000184140 chr15:101806421-101806421;C/G missense_variant False OR4K2@p.F265V 1 0.227272727 ENSG00000165762 chr14:19877060-19877060;T/G missense_variant False OR4K2@p.H243Y 1 0.12 ENSG00000165762 chr14:19876994-19876994;C/T missense_variant False OR4K2@p.I50T 1 0.188235294 ENSG00000165762 chr14:19876416-19876416;T/C missense_variant False OR4K2@p.S18C 1 0.174157303 ENSG00000165762 chr14:19876320-19876320;C/G missense_variant False OR4K2@p.T165M 1 0.103508772 ENSG00000165762 chr14:19876761-19876761;C/T missense_variant False OR4K5@p.E90K 1 0.1179941 ENSG00000176281 chr14:19920874-19920874;G/A missense_variant False OR4K5@p.G41E 1 0.214285714 ENSG00000176281 chr14:19920728-19920728;G/A missense_variant False OR4K5@p.L106I 1 0.26984127 ENSG00000176281 chr14:19920922-19920922;C/A missense_variant False OR4K5@p.L271F 1 0.160493827 ENSG00000176281 chr14:19921417-19921417;C/T missense_variant False OR4K5@p.M59T 1 0.225 ENSG00000176281 chr14:19920782-19920782;T/C missense_variant False OR4K5@p.N165K 1 0.058201058 ENSG00000176281 chr14:19921101-19921101;C/A missense_variant False OR4K5@p.R138Q 1 0.125364431 ENSG00000176281 chr14:19921019-19921019;G/A missense_variant False OR4K5@p.S203R 1 0.135371179 ENSG00000176281 chr14:19921215-19921215;T/G missense_variant False OR4K5@p.S238F 1 0.051369863 ENSG00000176281 chr14:19921319-19921319;C/T missense_variant False OR4K5@p.V298A 1 0.125786164 ENSG00000176281 chr14:19921499-19921499;T/C missense_variant False OR4L1@p.E196K 1 0.408163265 ENSG00000176246 chr14:20060630-20060630;G/A missense_variant False OR4M1@p.F193L 1 0.205128205 ENSG00000176299 chr14:19780901-19780901;C/G missense_variant False OR5A1@p.T21R 1 0.296296296 ENSG00000172320 chr11:59443230-59443230;C/G missense_variant False OR5A1@p.W44_A47del 1 0.137931034 ENSG00000172320 chr11:59443291-59443302;CCTGGCCTGGAA/- inframe_deletion False OR5A2@p.V104F 1 0.278481013 ENSG00000172324 chr11:59422644-59422644;C/A missense_variant False OR6K3@p.D57H 1 0.112 ENSG00000203757 chr1:158717995-158717995;C/G missense_variant False OR6K6@p.R50K 1 0.182320442 ENSG00000180433 chr1:158754964-158754964;G/A missense_variant False OR6K6@p.Q9E 1 0.13836478 ENSG00000180433 chr1:158754840-158754840;C/G missense_variant False OR6K6@p.N321T 1 0.068571429 ENSG00000180433 chr1:158755777-158755777;A/C missense_variant False OR6K3@p.V140I 1 0.096774194 ENSG00000203757 chr1:158717746-158717746;C/T missense_variant False OR6K3@p.R276H 1 0.383333333 ENSG00000203757 chr1:158717337-158717337;C/T missense_variant False OR6K3@p.L275V 1 0.15942029 ENSG00000203757 chr1:158717341-158717341;A/C missense_variant False OR6K3@p.D196N 1 0.273333333 ENSG00000203757 chr1:158717578-158717578;C/T missense_variant False OR6F1@p.F215Cfs*79 1 0.486607143 ENSG00000169214 chr1:247712111-247712112;AA/- frameshift_variant False OR6K2@p.R236Afs*21 1 0.519480519 ENSG00000196171 chr1:158699947-158699947;G/- frameshift_variant False OR6F1@p.T291M 1 0.264900662 ENSG00000169214 chr1:247711884-247711884;G/A missense_variant False OR6F1@p.S67Y 1 0.108433735 ENSG00000169214 chr1:247712556-247712556;G/T missense_variant False OR6F1@p.R261C 1 0.181818182 ENSG00000169214 chr1:247711975-247711975;G/A missense_variant False OR6F1@p.R234L 1 0.126315789 ENSG00000169214 chr1:247712055-247712055;C/A missense_variant False OR6F1@p.Q21E 1 0.077490775 ENSG00000169214 chr1:247712695-247712695;G/C missense_variant False OR6K6@p.T193I 1 0.471264368 ENSG00000180433 chr1:158755393-158755393;C/T missense_variant False OR6K6@p.W340C 1 0.379746835 ENSG00000180433 chr1:158755835-158755835;G/C missense_variant False OR6M1@p.L12* 1 0.375 ENSG00000196099 chr11:123806316-123806316;G/- frameshift_variant False OR6M1@p.L25P 1 0.255813953 ENSG00000196099 chr11:123806276-123806276;A/G missense_variant False OR6M1@p.R22Q 1 0.35 ENSG00000196099 chr11:123806285-123806285;C/T missense_variant False OR6M1@p.R299K 1 0.275862069 ENSG00000196099 chr11:123805454-123805454;C/T missense_variant False OR6M1@p.S200F 1 0.36 ENSG00000196099 chr11:123805751-123805751;G/A missense_variant False OR6N1@p.A117P 1 0.470588235 ENSG00000197403 chr1:158766334-158766334;C/G missense_variant False OR6N1@p.C189S 1 0.26 ENSG00000197403 chr1:158766118-158766118;A/T missense_variant False OR6N1@p.G233C 1 0.248275862 ENSG00000197403 chr1:158765986-158765986;C/A missense_variant False OR6N1@p.H131Y 1 0.155555556 ENSG00000197403 chr1:158766292-158766292;G/A missense_variant False OR6N1@p.I222M 1 0.255813953 ENSG00000197403 chr1:158766017-158766017;G/C missense_variant False OR6N1@p.P229H 1 0.103448276 ENSG00000197403 chr1:158765997-158765997;G/T missense_variant False OR6N1@p.R128Q 1 0.5 ENSG00000197403 chr1:158766300-158766300;C/T missense_variant False OR6N1@p.S106C 1 0.08 ENSG00000197403 chr1:158766366-158766366;G/C missense_variant False OR6N1@p.S7R 1 0.208333333 ENSG00000197403 chr1:158766662-158766662;G/T missense_variant False OR6N2@p.L154P 1 0.075949367 ENSG00000188340 chr1:158777175-158777175;A/G missense_variant False OR6F1@p.G307R 1 0.368421053 ENSG00000169214 chr1:247711837-247711837;C/T missense_variant False OR6F1@p.F200L 1 0.115606936 ENSG00000169214 chr1:247712158-247712158;A/G missense_variant False OR6N2@p.R261W 1 0.214285714 ENSG00000188340 chr1:158776855-158776855;G/A missense_variant False OR5W2@p.S267F 1 0.127659574 ENSG00000187612 chr11:55913783-55913783;G/A missense_variant False OR6B1@p.L299V 1 0.297297297 ENSG00000221813 chr7:144004891-144004891;C/G missense_variant False OR6B1@p.K159N 1 0.319148936 ENSG00000221813 chr7:144004473-144004473;G/T missense_variant False OR6B1@p.E70K 1 0.259259259 ENSG00000221813 chr7:144004204-144004204;G/A missense_variant False OR6A2@p.L289S 1 0.534246575 ENSG00000184933 chr11:6794843-6794843;A/G missense_variant False OR6A2@p.F63C 1 0.118644068 ENSG00000184933 chr11:6795521-6795521;A/C missense_variant False OR6A2@p.E100K 1 0.25 ENSG00000184933 chr11:6795411-6795411;C/T missense_variant False OR5W2@p.S265F 1 0.265822785 ENSG00000187612 chr11:55913789-55913789;G/A missense_variant False OR6F1@p.F177L 1 0.430463576 ENSG00000169214 chr1:247712225-247712225;G/T missense_variant False OR5W2@p.R50K 1 0.255319149 ENSG00000187612 chr11:55914434-55914434;C/T missense_variant False OR5W2@p.R139T 1 0.294117647 ENSG00000187612 chr11:55914167-55914167;C/G missense_variant False OR5W2@p.M273I 1 0.147058824 ENSG00000187612 chr11:55913764-55913764;C/A missense_variant False OR5W2@p.E232K 1 0.113636364 ENSG00000187612 chr11:55913889-55913889;C/T missense_variant False OR5V1@p.S137R 1 0.228070175 ENSG00000243729 chr6:29355785-29355785;G/C missense_variant False OR5V1@p.R3T 1 0.309090909 ENSG00000243729 chr6:29356188-29356188;C/G missense_variant False OR6B1@p.R293P 1 0.139534884 ENSG00000221813 chr7:144004874-144004874;G/C missense_variant False OR6B1@p.S217C 1 0.228187919 ENSG00000221813 chr7:144004646-144004646;C/G missense_variant False OR6B2@p.S106F 1 0.142857143 ENSG00000182083 chr2:240030113-240030113;G/A missense_variant False OR6B3@p.L202V 1 0.164705882 ENSG00000178586 chr2:240045469-240045469;G/C missense_variant False OR6B3@p.S2I 1 0.333333333 ENSG00000178586 chr2:240046068-240046068;C/A missense_variant False OR6C4@p.L12V 1 0.130718954 ENSG00000179626 chr12:55551260-55551260;C/G missense_variant False OR6C65@p.C187S 1 0.406417112 ENSG00000205328 chr12:55401088-55401088;G/C missense_variant False OR6C65@p.K221E 1 0.270072993 ENSG00000205328 chr12:55401189-55401189;A/G missense_variant False OR6C65@p.L102* 1 0.370967742 ENSG00000205328 chr12:55400826-55400826;T/- frameshift_variant False OR6C68@p.T115I 1 0.330275229 ENSG00000205327 chr12:55492721-55492721;C/T missense_variant False OR6C6@p.M243V 1 0.492753623 ENSG00000188324 chr12:55294506-55294506;T/C missense_variant False OR6C70@p.F255L 1 0.153225806 ENSG00000184954 chr12:55469376-55469376;A/G missense_variant False OR6C74@p.F31L 1 0.110169492 ENSG00000197706 chr12:55247380-55247380;C/A missense_variant False OR6C74@p.S180C 1 0.211538462 ENSG00000197706 chr12:55247826-55247826;C/G missense_variant False OR6C75@p.R137T 1 0.421052632 ENSG00000187857 chr12:55365520-55365520;G/C missense_variant False OR6C75@p.R2T 1 0.213333333 ENSG00000187857 chr12:55365115-55365115;G/C missense_variant False OR6C76@p.S106L 1 0.222222222 ENSG00000185821 chr12:55426570-55426570;C/T missense_variant False OR6N2@p.L86F 1 0.057142857 ENSG00000188340 chr1:158777380-158777380;G/A missense_variant False OR6N2@p.S67F 1 0.11023622 ENSG00000188340 chr1:158777436-158777436;G/A missense_variant False OR5V1@p.L197V 1 0.538461538 ENSG00000243729 chr6:29355607-29355607;A/C missense_variant False OR7G2@p.L247F 1 0.323232323 ENSG00000170923 chr19:9102566-9102566;C/G missense_variant False OR8A1@p.G161R 1 0.085714286 ENSG00000196119 chr11:124570600-124570600;G/C missense_variant False OR8A1@p.E231Q 1 0.453125 ENSG00000196119 chr11:124570810-124570810;G/C missense_variant False OR8A1@p.D22N 1 0.36 ENSG00000196119 chr11:124570183-124570183;G/A missense_variant False OR7G3@p.M226I 1 0.065420561 ENSG00000170920 chr19:9126273-9126273;C/T missense_variant False OR7G3@p.I26M 1 0.422680412 ENSG00000170920 chr19:9126873-9126873;G/C missense_variant False OR7G2@p.R111W 1 0.507575758 ENSG00000170923 chr19:9102976-9102976;G/A missense_variant False OR7G2@p.L185S 1 0.105263158 ENSG00000170923 chr19:9102753-9102753;A/G missense_variant False OR7D4@p.L47M 1 0.552238806 ENSG00000174667 chr19:9214699-9214699;G/T missense_variant False OR7G2@p.I242V 1 0.244094488 ENSG00000170923 chr19:9102583-9102583;T/C missense_variant False OR7E24@p.S36L 1 0.327272727 ENSG00000237521 chr19:9251150-9251150;C/T missense_variant False OR7E24@p.L322V 1 0.432835821 ENSG00000237521 chr19:9252007-9252007;C/G missense_variant False OR7D4@p.S267P 1 0.111111111 ENSG00000174667 chr19:9214039-9214039;A/G missense_variant False OR7D4@p.S249F 1 0.416666667 ENSG00000174667 chr19:9214092-9214092;G/A missense_variant False OR7D4@p.N137H 1 0.351648352 ENSG00000174667 chr19:9214429-9214429;T/G missense_variant False OR8B12@p.D69H 1 0.583333333 ENSG00000170953 chr11:124543450-124543450;C/G missense_variant False OR8B12@p.L249V 1 0.16 ENSG00000170953 chr11:124542910-124542910;G/C missense_variant False OR8B12@p.P266T 1 0.95 ENSG00000170953 chr11:124542859-124542859;G/T missense_variant False OR8B12@p.P57S 1 0.298701299 ENSG00000170953 chr11:124543486-124543486;G/A missense_variant False OR8B12@p.S191F 1 0.388888889 ENSG00000170953 chr11:124543083-124543083;G/A missense_variant False OR8B12@p.S66C 1 0.175438596 ENSG00000170953 chr11:124543458-124543458;G/C missense_variant False OR8B2@p.E11K 1 0.171314741 ENSG00000284680 chr11:124383313-124383313;C/T missense_variant False OR8B2@p.F251Y 1 0.391752577 ENSG00000284680 chr11:124382592-124382592;A/T missense_variant False OR8B2@p.L304V 1 0.575757576 ENSG00000284680 chr11:124382434-124382434;G/C missense_variant False OR8B2@p.M151I 1 0.5 ENSG00000284680 chr11:124382891-124382891;C/T missense_variant False OR8B3@p.G265A 1 0.067567568 ENSG00000284609 chr11:124396558-124396558;C/G missense_variant False OR8B3@p.Q100E 1 0.196428571 ENSG00000284609 chr11:124397054-124397054;G/C missense_variant False OR8B3@p.S170N 1 0.136363636 ENSG00000284609 chr11:124396843-124396843;C/T missense_variant False OR8B4@p.G33W 1 0.37254902 ENSG00000280090 chr11:124424775-124424775;C/A missense_variant False OR8B4@p.K302Efs*18 1 0.212121212 ENSG00000280090 chr11:124423958-124423968;TTCAGGGTTTT/- frameshift_variant False OR8B4@p.R121S 1 0.260869565 ENSG00000280090 chr11:124424511-124424511;G/T missense_variant False OR8B4@p.S170C 1 0.6 ENSG00000280090 chr11:124424363-124424363;G/C missense_variant False OR7D4@p.L47V 1 0.192307692 ENSG00000174667 chr19:9214699-9214699;G/C missense_variant False OR7D4@p.E173K 1 0.296296296 ENSG00000174667 chr19:9214321-9214321;C/T missense_variant False OR6N2@p.V225L 1 0.145833333 ENSG00000188340 chr1:158776963-158776963;C/A missense_variant False OR6V1@p.H242N 1 0.291208791 ENSG00000225781 chr7:143053064-143053064;C/A missense_variant False OR6Y1@p.Y283H 1 0.512 ENSG00000197532 chr1:158547259-158547259;A/G missense_variant False OR6Y1@p.S235F 1 0.382352941 ENSG00000197532 chr1:158547402-158547402;G/A missense_variant False OR6Y1@p.G151E 1 0.136986301 ENSG00000197532 chr1:158547654-158547654;C/T missense_variant False OR6X1@p.V245A 1 0.378378378 ENSG00000221931 chr11:123753785-123753785;A/G missense_variant False OR6V1@p.V271A 1 0.281818182 ENSG00000225781 chr7:143053152-143053152;T/C missense_variant False OR6V1@p.L283Sfs*24 1 0.241935484 ENSG00000225781 chr7:143053179-143053179;C/- frameshift_variant False OR6T1@p.V225A 1 0.107142857 ENSG00000181499 chr11:123943165-123943165;A/G missense_variant False OR7D2@p.S275L 1 0.260869565 ENSG00000188000 chr19:9186605-9186605;C/T missense_variant False OR6T1@p.R179C 1 0.513513514 ENSG00000181499 chr11:123943304-123943304;G/A missense_variant False OR6S1@p.K172R 1 0.423076923 ENSG00000181803 chr14:20641177-20641177;T/C missense_variant False OR6S1@p.A276T 1 0.259259259 ENSG00000181803 chr14:20640866-20640866;C/T missense_variant False OR6Q1@p.K276Q 1 0.137055838 ENSG00000279051 chr11:58031778-58031778;A/C missense_variant False OR6Q1@p.I73M 1 0.183333333 ENSG00000279051 chr11:58031171-58031171;C/G missense_variant False OR6Q1@p.E24K 1 0.261261261 ENSG00000279051 chr11:58031022-58031022;G/A missense_variant False OR7A10@p.H176Y 1 0.380952381 ENSG00000127515 chr19:14841352-14841352;G/A missense_variant False OR7A10@p.Q139Hfs*13 1 0.265822785 ENSG00000127515 chr19:14841461-14841461;T/- frameshift_variant False OR7A17@p.S275L 1 0.266055046 ENSG00000185385 chr19:14880532-14880532;G/A missense_variant False OR7A5@p.E20K 1 0.533333333 ENSG00000188269 chr19:14828184-14828184;C/T missense_variant False OR7A5@p.I126T 1 0.369230769 ENSG00000188269 chr19:14827865-14827865;A/G missense_variant False OR7A5@p.M151I 1 0.283950617 ENSG00000188269 chr19:14827789-14827789;C/G missense_variant False OR7A5@p.R266C 1 0.101123596 ENSG00000188269 chr19:14827446-14827446;G/A missense_variant False OR7A5@p.T7I 1 0.169811321 ENSG00000188269 chr19:14828222-14828222;G/A missense_variant False OR7C1@p.A69D 1 0.290322581 ENSG00000127530 chr19:14799931-14799931;G/T missense_variant False OR7C1@p.G242S 1 0.1 ENSG00000127530 chr19:14799413-14799413;C/T missense_variant False OR7C1@p.Q24K 1 0.037558685 ENSG00000127530 chr19:14800067-14800067;G/T missense_variant False OR7C2@p.E19K 1 0.177777778 ENSG00000127529 chr19:14941543-14941543;G/A missense_variant False OR7C2@p.F216L 1 0.447058824 ENSG00000127529 chr19:14942136-14942136;C/A missense_variant False OR7C2@p.M91I 1 0.549019608 ENSG00000127529 chr19:14941761-14941761;G/C missense_variant False OR7C2@p.S245L 1 0.363636364 ENSG00000127529 chr19:14942222-14942222;C/T missense_variant False OR7C2@p.S274L 1 0.221374046 ENSG00000127529 chr19:14942309-14942309;C/T missense_variant False OR7C2@p.S290R 1 0.327586207 ENSG00000127529 chr19:14942356-14942356;A/C missense_variant False OR5V1@p.P182S 1 0.196721311 ENSG00000243729 chr6:29355652-29355652;G/A missense_variant False OR5T3@p.T50P 1 0.095238095 ENSG00000172489 chr11:56252401-56252401;A/C missense_variant False OR5AC2@p.G244S 1 0.222222222 ENSG00000196578 chr3:98087902-98087902;G/A missense_variant False OR5D16@p.S190P 1 0.228346457 ENSG00000205029 chr11:55839319-55839319;T/C missense_variant False OR5D18@p.S268C 1 0.35106383 ENSG00000186119 chr11:55820432-55820432;C/G missense_variant False OR5D18@p.R6I 1 0.5 ENSG00000186119 chr11:55819646-55819646;G/T missense_variant False OR5D18@p.L141P 1 0.134693878 ENSG00000186119 chr11:55820051-55820051;T/C missense_variant False OR5D18@p.F182L 1 0.276785714 ENSG00000186119 chr11:55820175-55820175;C/G missense_variant False OR5D16@p.S293R 1 0.181818182 ENSG00000205029 chr11:55839630-55839630;T/A missense_variant False OR5D16@p.S232A 1 0.365269461 ENSG00000205029 chr11:55839445-55839445;T/G missense_variant False OR5D16@p.S158Y 1 0.235294118 ENSG00000205029 chr11:55839224-55839224;C/A missense_variant False OR5B3@p.R291S 1 0.355555556 ENSG00000172769 chr11:58402537-58402537;C/G missense_variant False OR5D14@p.V221L 1 0.083333333 ENSG00000186113 chr11:55796216-55796216;G/C missense_variant False OR5D14@p.S249Y 1 0.431372549 ENSG00000186113 chr11:55796301-55796301;C/A missense_variant False OR5D14@p.I53T 1 0.19047619 ENSG00000186113 chr11:55795713-55795713;T/C missense_variant False OR5D14@p.G157C 1 0.088888889 ENSG00000186113 chr11:55796024-55796024;G/T missense_variant False OR5D13@p.R236C 1 0.264367816 ENSG00000279761 chr11:55774143-55774143;C/T missense_variant False OR5D13@p.R231Q 1 0.452380952 ENSG00000279761 chr11:55774129-55774129;G/A missense_variant False OR5D18@p.T39S 1 0.504587156 ENSG00000186119 chr11:55819744-55819744;A/T missense_variant False OR5D18@p.V232A 1 0.136 ENSG00000186119 chr11:55820324-55820324;T/C missense_variant False OR5F1@p.A83T 1 0.092307692 ENSG00000149133 chr11:55994379-55994379;C/T missense_variant False OR5F1@p.C112R 1 0.265822785 ENSG00000149133 chr11:55994292-55994292;A/G missense_variant False OR5F1@p.F185L 1 0.422222222 ENSG00000149133 chr11:55994071-55994071;G/C missense_variant False OR5F1@p.I289S 1 0.4 ENSG00000149133 chr11:55993760-55993760;A/C missense_variant False OR5H14@p.K98T 1 0.331210191 ENSG00000236032 chr3:98149678-98149678;A/C missense_variant False OR5H14@p.L226F 1 0.236842105 ENSG00000236032 chr3:98150063-98150063;G/C missense_variant False OR5H14@p.S95C 1 0.25 ENSG00000236032 chr3:98149669-98149669;C/G missense_variant False OR5H15@p.F12L 1 0.061538462 ENSG00000233412 chr3:98168733-98168733;T/C missense_variant False OR5H15@p.H176Y 1 0.363636364 ENSG00000233412 chr3:98169225-98169225;C/T missense_variant False OR5H15@p.T109S 1 0.041297935 ENSG00000233412 chr3:98169025-98169025;C/G missense_variant False OR5H15@p.Y35D 1 0.454258675 ENSG00000233412 chr3:98168802-98168802;T/G missense_variant False OR5H1@p.F162V 1 0.377192982 ENSG00000231192 chr3:98133181-98133181;T/G missense_variant False OR5H1@p.I289M 1 0.194444444 ENSG00000231192 chr3:98133564-98133564;C/G missense_variant False OR5H1@p.Q207E 1 0.153846154 ENSG00000231192 chr3:98133316-98133316;C/G missense_variant False OR5H1@p.S192F 1 0.159090909 ENSG00000231192 chr3:98133272-98133272;C/T missense_variant False OR5D13@p.L83P 1 0.241176471 ENSG00000279761 chr11:55773685-55773685;T/C missense_variant False OR5B3@p.G251R 1 0.244897959 ENSG00000172769 chr11:58402659-58402659;C/T missense_variant False OR5H2@p.R127C 1 0.23880597 ENSG00000197938 chr3:98283266-98283266;C/T missense_variant False OR5AK2@p.S53C 1 0.570422535 ENSG00000181273 chr11:56989071-56989071;C/G missense_variant False OR5AP2@p.Q12E 1 0.245283019 ENSG00000172464 chr11:56642406-56642406;G/C missense_variant False OR5AP2@p.I40M 1 0.147826087 ENSG00000172464 chr11:56642320-56642320;G/C missense_variant False OR5AP2@p.I205M 1 0.079545455 ENSG00000172464 chr11:56641825-56641825;G/C missense_variant False OR5AP2@p.F208L 1 0.12244898 ENSG00000172464 chr11:56641816-56641816;G/C missense_variant False OR5AN1@p.S172F 1 0.368421053 ENSG00000176495 chr11:59364973-59364973;C/T missense_variant False OR5AN1@p.M216I 1 0.082474227 ENSG00000176495 chr11:59365106-59365106;G/C missense_variant False OR5AK2@p.G204V 1 0.2421875 ENSG00000181273 chr11:56989524-56989524;G/T missense_variant False OR5B21@p.S49L 1 0.222222222 ENSG00000198283 chr11:58507960-58507960;G/A missense_variant False OR5AK2@p.E22K 1 0.459854015 ENSG00000181273 chr11:56988977-56988977;G/A missense_variant False OR5AC2@p.V15G 1 0.286956522 ENSG00000196578 chr3:98087216-98087216;T/G missense_variant False OR5AC2@p.V15F 1 0.179190751 ENSG00000196578 chr3:98087215-98087215;G/T missense_variant False OR5AC2@p.R263H 1 0.209677419 ENSG00000196578 chr3:98087960-98087960;G/A missense_variant False OR5AC2@p.K8N 1 0.211382114 ENSG00000196578 chr3:98087196-98087196;G/C missense_variant False OR5AC2@p.H246Ifs*12 1 0.153846154 ENSG00000196578 chr3:98087906-98087906;C/- frameshift_variant False OR5AR1@p.D52H 1 0.112781955 ENSG00000172459 chr11:56663839-56663839;G/C missense_variant False OR5AR1@p.L63Pfs*8 1 0.224043716 ENSG00000172459 chr11:56663864-56663865;-/T frameshift_variant False OR5AS1@p.A300V 1 0.19047619 ENSG00000181785 chr11:56031317-56031317;C/T missense_variant False OR5AS1@p.C141R 1 0.100840336 ENSG00000181785 chr11:56030839-56030839;T/C missense_variant False OR5AS1@p.M8V 1 0.46 ENSG00000181785 chr11:56030440-56030440;A/G missense_variant False OR5AS1@p.S311L 1 0.363636364 ENSG00000181785 chr11:56031350-56031350;C/T missense_variant False OR5AS1@p.T133A 1 0.559322034 ENSG00000181785 chr11:56030815-56030815;A/G missense_variant False OR5AS1@p.V25I 1 0.2 ENSG00000181785 chr11:56030491-56030491;G/A missense_variant False OR5AU1@p.A87T 1 0.239130435 ENSG00000169327 chr14:21155614-21155614;C/T missense_variant False OR5B12@p.F162L 1 0.147540984 ENSG00000172362 chr11:58439666-58439666;G/C missense_variant False OR5B12@p.R227H 1 0.583333333 ENSG00000172362 chr11:58439472-58439472;C/T missense_variant False OR5B17@p.E189D 1 0.410714286 ENSG00000197786 chr11:58358503-58358503;C/A missense_variant False OR5B17@p.L199I 1 0.090909091 ENSG00000197786 chr11:58358475-58358475;G/T missense_variant False OR5B17@p.L213S 1 0.394736842 ENSG00000197786 chr11:58358432-58358432;A/G missense_variant False OR5B21@p.G14E 1 0.493670886 ENSG00000198283 chr11:58508065-58508065;C/T missense_variant False OR5B21@p.L21I 1 0.191489362 ENSG00000198283 chr11:58508045-58508045;G/T missense_variant False OR5B21@p.S193I 1 0.227272727 ENSG00000198283 chr11:58507528-58507528;C/A missense_variant False OR5H1@p.S300L 1 0.133333333 ENSG00000231192 chr3:98133596-98133596;C/T missense_variant False OR5H2@p.Y128F 1 0.215686275 ENSG00000197938 chr3:98283270-98283270;A/T missense_variant False OR5T3@p.M272I 1 0.098360656 ENSG00000172489 chr11:56253069-56253069;G/A missense_variant False OR5M11@p.S87C 1 0.054054054 ENSG00000255223 chr11:56542998-56542998;G/C missense_variant False OR5M8@p.R19H 1 0.449275362 ENSG00000181371 chr11:56491315-56491315;C/T missense_variant False OR5M8@p.C140F 1 0.391891892 ENSG00000181371 chr11:56490952-56490952;C/A missense_variant False OR5M8@p.A179V 1 0.25984252 ENSG00000181371 chr11:56490835-56490835;G/A missense_variant False OR5M3@p.S154N 1 0.225806452 ENSG00000174937 chr11:56470037-56470037;C/T missense_variant False OR5M1@p.K308Q 1 0.196428571 ENSG00000255012 chr11:56612581-56612581;T/G missense_variant False OR5M1@p.F226L 1 0.123809524 ENSG00000255012 chr11:56612825-56612825;G/T missense_variant False OR5M11@p.S153L 1 0.538461538 ENSG00000255223 chr11:56542800-56542800;G/A missense_variant False OR5M10@p.G16R 1 0.264150943 ENSG00000254834 chr11:56577676-56577676;C/T missense_variant False OR5M11@p.R226W 1 0.304878049 ENSG00000255223 chr11:56542582-56542582;G/A missense_variant False OR5M11@p.A274V 1 0.175 ENSG00000255223 chr11:56542437-56542437;G/A missense_variant False OR5M10@p.V9A 1 0.394736842 ENSG00000254834 chr11:56577696-56577696;A/G missense_variant False OR5M10@p.S74F 1 0.263157895 ENSG00000254834 chr11:56577501-56577501;G/A missense_variant False OR5M10@p.R229L 1 0.5 ENSG00000254834 chr11:56577036-56577036;C/A missense_variant False OR5M10@p.R193P 1 0.349206349 ENSG00000254834 chr11:56577144-56577144;C/G missense_variant False OR5M8@p.S311F 1 0.210526316 ENSG00000181371 chr11:56490439-56490439;G/A missense_variant False OR5P2@p.E84D 1 0.587301587 ENSG00000183303 chr11:7796691-7796691;C/G missense_variant False OR5R1@p.E3K 1 0.090909091 None chr11:56418226-56418226;C/T missense_variant False OR5R1@p.L318F 1 0.3 None chr11:56417279-56417279;T/A missense_variant False OR5R1@p.R139T 1 0.152173913 None chr11:56417817-56417817;C/G missense_variant False OR5R1@p.Y149H 1 0.32 None chr11:56417788-56417788;A/G missense_variant False OR5T1@p.A163T 1 0.377622378 ENSG00000181698 chr11:56276125-56276125;G/A missense_variant False OR5T1@p.G216C 1 0.401015228 ENSG00000181698 chr11:56276284-56276284;G/T missense_variant False OR5T1@p.G63R 1 0.551724138 ENSG00000181698 chr11:56275825-56275825;G/A missense_variant False OR5T1@p.L197I 1 0.295454545 ENSG00000181698 chr11:56276227-56276227;C/A missense_variant False OR5T1@p.L51V 1 0.247706422 ENSG00000181698 chr11:56275789-56275789;C/G missense_variant False OR5T1@p.M148I 1 0.276315789 ENSG00000181698 chr11:56276082-56276082;G/A missense_variant False OR5T1@p.S217Y 1 0.180327869 ENSG00000181698 chr11:56276288-56276288;C/A missense_variant False OR5T2@p.I65M 1 0.405063291 ENSG00000181718 chr11:56232991-56232991;G/C missense_variant False OR5T2@p.S114L 1 0.58974359 ENSG00000181718 chr11:56232845-56232845;G/A missense_variant False OR5T3@p.D281G 1 0.482142857 ENSG00000172489 chr11:56253095-56253095;A/G missense_variant False OR5T3@p.G7S 1 0.091954023 ENSG00000172489 chr11:56252272-56252272;G/A missense_variant False OR5M10@p.G307E 1 0.213483146 ENSG00000254834 chr11:56576802-56576802;C/T missense_variant False OR5M10@p.G16E 1 0.266055046 ENSG00000254834 chr11:56577675-56577675;C/T missense_variant False OR5H6@p.A259T 1 0.149253731 ENSG00000230301 chr3:98265059-98265059;G/A missense_variant False OR5I1@p.R236Gfs*12 1 0.555555556 ENSG00000167825 chr11:55935696-55935696;C/- frameshift_variant False OR5K2@p.F257L 1 0.315789474 ENSG00000231861 chr3:98498451-98498451;C/A missense_variant False OR5K1@p.I150T 1 0.327380952 ENSG00000232382 chr3:98470025-98470025;T/C missense_variant False OR5K1@p.F226L 1 0.551470588 ENSG00000232382 chr3:98470254-98470254;C/G missense_variant False OR5K1@p.A151S 1 0.344537815 ENSG00000232382 chr3:98470027-98470027;G/T missense_variant False OR5J2@p.R122L 1 0.162162162 ENSG00000174957 chr11:56176982-56176982;G/T missense_variant False OR5J2@p.H56N 1 0.042682927 ENSG00000174957 chr11:56176783-56176783;C/A missense_variant False OR5I1@p.I214M 1 0.107142857 ENSG00000167825 chr11:55935759-55935759;G/C missense_variant False OR5M10@p.F256L 1 0.297142857 ENSG00000254834 chr11:56576954-56576954;G/T missense_variant False OR5I1@p.D172V 1 0.285714286 ENSG00000167825 chr11:55935886-55935886;T/A missense_variant False OR5H6@p.L24S 1 0.236051502 ENSG00000230301 chr3:98264355-98264355;T/C missense_variant False OR5H6@p.L231V 1 0.4 ENSG00000230301 chr3:98264975-98264975;C/G missense_variant False OR5H6@p.I65M 1 0.269461078 ENSG00000230301 chr3:98264479-98264479;C/G missense_variant False OR5H6@p.H72Y 1 0.340425532 ENSG00000230301 chr3:98264498-98264498;C/T missense_variant False OR5H6@p.F47L 1 0.280701754 ENSG00000230301 chr3:98264425-98264425;C/G missense_variant False OR5K2@p.G253V 1 0.174603175 ENSG00000231861 chr3:98498438-98498438;G/T missense_variant False OR5K2@p.L277F 1 0.2 ENSG00000231861 chr3:98498511-98498511;A/T missense_variant False OR5K2@p.V208I 1 0.235632184 ENSG00000231861 chr3:98498302-98498302;G/A missense_variant False OR5K3@p.G64C 1 0.091074681 ENSG00000206536 chr3:98390855-98390855;G/T missense_variant False OR5K3@p.L213S 1 0.183098592 ENSG00000206536 chr3:98391303-98391303;T/C missense_variant False OR5K3@p.S247L 1 0.345132743 ENSG00000206536 chr3:98391405-98391405;C/T missense_variant False OR5K4@p.K80Rfs*3 1 0.213296399 ENSG00000196098 chr3:98354086-98354086;C/- frameshift_variant False OR5K4@p.S217C 1 0.096774194 ENSG00000196098 chr3:98354503-98354503;C/G missense_variant False OR5L1@p.H56Tfs*14 1 0.216931217 ENSG00000279395 chr11:55811631-55811631;C/- frameshift_variant False OR5L2@p.I282F 1 0.5 ENSG00000205030 chr11:55828062-55828062;A/T missense_variant False OR5L2@p.I92M 1 0.201298701 ENSG00000205030 chr11:55827494-55827494;C/G missense_variant False OR5L2@p.L301I 1 0.327868852 ENSG00000205030 chr11:55828119-55828119;C/A missense_variant False OR5L2@p.P183L 1 0.322147651 ENSG00000205030 chr11:55827766-55827766;C/T missense_variant False OR5L2@p.P183S 1 0.365979381 ENSG00000205030 chr11:55827765-55827765;C/T missense_variant False OR5L2@p.R54W 1 0.709677419 ENSG00000205030 chr11:55827378-55827378;C/T missense_variant False OR5L2@p.S53F 1 0.254117647 ENSG00000205030 chr11:55827376-55827376;C/T missense_variant False OR5L2@p.T153M 1 0.191919192 ENSG00000205030 chr11:55827676-55827676;C/T missense_variant False OR4A15@p.M296I 1 0.080645161 ENSG00000181958 chr11:55368861-55368861;G/C missense_variant False OR3A2@p.G264C 1 0.111111111 ENSG00000221882 chr17:3278146-3278146;C/A missense_variant False OGDH@p.K387N 1 0.134453782 ENSG00000105953 chr7:44676104-44676104;G/C missense_variant False OR10G9@p.A23T 1 0.100775194 ENSG00000236981 chr11:124023079-124023079;G/A missense_variant False OR10H3@p.S316C 1 0.111111111 ENSG00000171936 chr19:15742339-15742339;C/G missense_variant False OR10H2@p.L227F 1 0.372093023 ENSG00000171942 chr19:15728724-15728724;G/C missense_variant False OR10H2@p.E11Q 1 0.435483871 ENSG00000171942 chr19:15728074-15728074;G/C missense_variant False OR10H1@p.M317I 1 0.358208955 ENSG00000186723 chr19:15807087-15807087;C/T missense_variant False OR10H1@p.I229M 1 0.103896104 ENSG00000186723 chr19:15807351-15807351;G/C missense_variant False OR10H1@p.D84N 1 0.285714286 ENSG00000186723 chr19:15807788-15807788;C/T missense_variant False OR10G8@p.Y167F 1 0.121621622 ENSG00000234560 chr11:124030122-124030122;A/T missense_variant False OR10H4@p.L86M 1 0.033112583 ENSG00000176231 chr19:15949263-15949263;C/A missense_variant False OR10G8@p.S118F 1 0.331168831 ENSG00000234560 chr11:124029975-124029975;C/T missense_variant False OR10G8@p.F103L 1 0.098591549 ENSG00000234560 chr11:124029931-124029931;T/A missense_variant False OR10G7@p.V84L 1 0.224 ENSG00000182634 chr11:124038752-124038752;C/A missense_variant False OR10G7@p.T82I 1 0.063492063 ENSG00000182634 chr11:124038757-124038757;G/A missense_variant False OR10G7@p.F66L 1 0.088 ENSG00000182634 chr11:124038804-124038804;G/T missense_variant False OR10G7@p.F26L 1 0.46969697 ENSG00000182634 chr11:124038926-124038926;A/G missense_variant False OR10H4@p.I78V 1 0.131086142 ENSG00000176231 chr19:15949239-15949239;A/G missense_variant False OR10H4@p.M156I 1 0.158273381 ENSG00000176231 chr19:15949475-15949475;G/A missense_variant False OR3A2@p.G262A 1 0.423076923 ENSG00000221882 chr17:3278151-3278151;C/G missense_variant False OR10J3@p.H90Y 1 0.04 ENSG00000196266 chr1:159314392-159314392;G/A missense_variant False OR10J5@p.G119V 1 0.496402878 ENSG00000184155 chr1:159535652-159535652;C/A missense_variant False OR10J3@p.Y329H 1 0.336538462 ENSG00000196266 chr1:159313675-159313675;A/G missense_variant False OR10J3@p.V159A 1 0.430769231 ENSG00000196266 chr1:159314184-159314184;A/G missense_variant False OR10J3@p.V118A 1 0.074074074 ENSG00000196266 chr1:159314307-159314307;A/G missense_variant False OR10J3@p.N309Tfs*5 1 0.308641975 ENSG00000196266 chr1:159313734-159313734;T/- frameshift_variant False OR10J3@p.M137T 1 0.120689655 ENSG00000196266 chr1:159314250-159314250;A/G missense_variant False OR10J3@p.H245Y 1 0.146341463 ENSG00000196266 chr1:159313927-159313927;G/A missense_variant False OR10H4@p.R81G 1 0.225165563 ENSG00000176231 chr19:15949248-15949248;C/G missense_variant False OR10J3@p.C73Y 1 0.098039216 ENSG00000196266 chr1:159314442-159314442;C/T missense_variant False OR10J1@p.T26I 1 0.584958217 ENSG00000196184 chr1:159439868-159439868;C/T missense_variant False OR10J1@p.R139T 1 0.070588235 ENSG00000196184 chr1:159440207-159440207;G/C missense_variant False OR10J1@p.P58T 1 0.052023121 ENSG00000196184 chr1:159439963-159439963;C/A missense_variant False OR10H5@p.S8C 1 0.195767196 ENSG00000172519 chr19:15794071-15794071;C/G missense_variant False OR10H5@p.D84N 1 0.475 ENSG00000172519 chr19:15794298-15794298;G/A missense_variant False OR10G7@p.A23T 1 0.292857143 ENSG00000182634 chr11:124038935-124038935;C/T missense_variant False OR10G2@p.A188P 1 0.228395062 ENSG00000255582 chr14:21634281-21634281;C/G missense_variant False OR10C1@p.V40M 1 0.176470588 ENSG00000206474 chr6:29440127-29440127;G/A missense_variant False OPTN@p.E293K 1 0.277777778 ENSG00000123240 chr10:13122482-13122482;G/A missense_variant False OR10A2@p.L34M 1 0.3125 ENSG00000170790 chr11:6869854-6869854;C/A missense_variant False OR10A2@p.G83V 1 0.377192982 ENSG00000170790 chr11:6870002-6870002;G/T missense_variant False OR10A2@p.F165L 1 0.307692308 ENSG00000170790 chr11:6870249-6870249;C/A missense_variant False OPTN@p.L6F 1 0.088 ENSG00000123240 chr10:13109138-13109138;C/T missense_variant False OPTN@p.G296E 1 0.285714286 ENSG00000123240 chr10:13123999-13123999;G/A missense_variant False OPTN@p.E50D 1 0.139534884 ENSG00000123240 chr10:13109272-13109272;G/T missense_variant False OPTN@p.E279Q 1 0.166666667 ENSG00000123240 chr10:13122440-13122440;G/C missense_variant False OR10C1@p.R235H 1 0.099236641 ENSG00000206474 chr6:29440713-29440713;G/A missense_variant False OPTN@p.E11K 1 0.095588235 ENSG00000123240 chr10:13109153-13109153;G/A missense_variant False OPTN@p.E103K 1 0.15 ENSG00000123240 chr10:13110414-13110414;G/A missense_variant False OPTC@p.S190Y 1 0.172222222 ENSG00000188770 chr1:203499688-203499688;C/A missense_variant False OPRPN@p.R110T 1 0.194968553 ENSG00000171199 chr4:70409657-70409657;G/C missense_variant False OPRL1@p.V349M 1 0.294642857 ENSG00000125510 chr20:64098731-64098731;G/A missense_variant False OPRL1@p.V290A 1 0.648148148 ENSG00000125510 chr20:64098555-64098555;T/C missense_variant False OR10A4@p.E23Q 1 0.183098592 ENSG00000170782 chr11:6876714-6876714;G/C missense_variant False OR10A4@p.E270K 1 0.3 ENSG00000170782 chr11:6877455-6877455;G/A missense_variant False OR10A5@p.E270Q 1 0.269076305 ENSG00000166363 chr11:6846490-6846490;G/C missense_variant False OR10A5@p.L145V 1 0.177165354 ENSG00000166363 chr11:6846115-6846115;C/G missense_variant False OR10A6@p.I314M 1 0.134146341 ENSG00000279000 chr11:7927721-7927721;G/C missense_variant False OR10A6@p.L216S 1 0.28358209 ENSG00000279000 chr11:7928016-7928016;A/G missense_variant False OR10A6@p.L281V 1 0.212121212 ENSG00000279000 chr11:7927822-7927822;G/C missense_variant False OR10A6@p.M297T 1 0.169811321 ENSG00000279000 chr11:7927773-7927773;A/G missense_variant False OR10A6@p.R293Q 1 0.212121212 ENSG00000279000 chr11:7927785-7927785;C/T missense_variant False OR10A6@p.R306Q 1 0.164179104 ENSG00000279000 chr11:7927746-7927746;C/T missense_variant False OR10A6@p.T282K 1 0.870967742 ENSG00000279000 chr11:7927818-7927818;G/T missense_variant False OR10AD1@p.L209F 1 0.304347826 ENSG00000172640 chr12:48202668-48202668;G/A missense_variant False OR10AD1@p.Q17K 1 0.111111111 ENSG00000172640 chr12:48203244-48203244;G/T missense_variant False OR10AG1@p.C103S 1 0.428571429 ENSG00000174970 chr11:55968156-55968156;C/G missense_variant False OR10AG1@p.V190F 1 0.283018868 ENSG00000174970 chr11:55967896-55967896;C/A missense_variant False OR10C1@p.A117E 1 0.333333333 ENSG00000206474 chr6:29440359-29440359;C/A missense_variant False OR10C1@p.L223F 1 0.381526104 ENSG00000206474 chr6:29440676-29440676;C/T missense_variant False OR10J5@p.I256T 1 0.367088608 ENSG00000184155 chr1:159535241-159535241;A/G missense_variant False OR10J5@p.S18F 1 0.050458716 ENSG00000184155 chr1:159535955-159535955;G/A missense_variant False OR10J5@p.S265C 1 0.155172414 ENSG00000184155 chr1:159535215-159535215;T/A missense_variant False OR11H1@p.F172V 1 0.114285714 ENSG00000130538 chr22:15528705-15528705;T/G missense_variant False OR11H4@p.S214C 1 0.108108108 ENSG00000176198 chr14:20243432-20243432;C/G missense_variant False OR11H4@p.A202S 1 0.402366864 ENSG00000176198 chr14:20243395-20243395;G/T missense_variant False OR11H1@p.V308L 1 0.118644068 ENSG00000130538 chr22:15529113-15529113;G/C missense_variant False OR11H1@p.S208L 1 0.226993865 ENSG00000130538 chr22:15528814-15528814;C/T missense_variant False OR11H1@p.M140I 1 0.195652174 ENSG00000130538 chr22:15528611-15528611;G/A missense_variant False OR11H1@p.I293V 1 0.1875 ENSG00000130538 chr22:15529068-15529068;A/G missense_variant False OR11H12@p.T216N 1 0.171428571 ENSG00000257115 chr14:18601763-18601763;C/A missense_variant False OR11A1@p.F259L 1 0.148148148 ENSG00000204694 chr6:29426867-29426867;A/G missense_variant False OR11H12@p.L84S 1 0.299610895 ENSG00000257115 chr14:18601367-18601367;T/C missense_variant False OR11G2@p.L182I 1 0.505494505 ENSG00000196832 chr14:20197879-20197879;C/A missense_variant False OR11G2@p.I252M 1 0.397058824 ENSG00000196832 chr14:20198091-20198091;T/G missense_variant False OR11G2@p.I192L 1 0.088888889 ENSG00000196832 chr14:20197909-20197909;A/C missense_variant False OR11G2@p.E305K 1 0.151079137 ENSG00000196832 chr14:20198248-20198248;G/A missense_variant False OR11A1@p.S272F 1 0.343434343 ENSG00000204694 chr6:29426827-29426827;G/A missense_variant False OR11H6@p.C159Y 1 0.836363636 ENSG00000176219 chr14:20224185-20224185;G/A missense_variant False OR11L1@p.L158Q 1 0.238095238 ENSG00000197591 chr1:247841424-247841424;A/T missense_variant False OR11L1@p.S7C 1 0.135135135 ENSG00000197591 chr1:247841877-247841877;G/C missense_variant False OR12D2@p.I48V 1 0.35 ENSG00000280236 chr6:29396841-29396841;A/G missense_variant False OR12D2@p.L25I 1 0.408805031 ENSG00000280236 chr6:29396772-29396772;C/A missense_variant False OR12D3@p.Y251C 1 0.2 ENSG00000112462 chr6:29374536-29374536;T/C missense_variant False OR13A1@p.C259S 1 0.043478261 ENSG00000256574 chr10:45303648-45303648;A/T missense_variant False OR13A1@p.Q253H 1 0.260869565 ENSG00000256574 chr10:45303664-45303664;C/G missense_variant False OR13C2@p.F257S 1 0.274193548 ENSG00000276119 chr9:104604858-104604858;A/G missense_variant False OR13C2@p.I221M 1 0.118110236 ENSG00000276119 chr9:104604965-104604965;G/C missense_variant False OR13C2@p.S93F 1 0.431654676 ENSG00000276119 chr9:104605350-104605350;G/A missense_variant False OR13C3@p.A136V 1 0.379310345 ENSG00000204246 chr9:104536407-104536407;G/A missense_variant False OR13C3@p.A218S 1 0.252336449 ENSG00000204246 chr9:104536162-104536162;C/A missense_variant False OR13C3@p.G200W 1 0.392857143 ENSG00000204246 chr9:104536216-104536216;C/A missense_variant False OR13C3@p.I255M 1 0.857142857 ENSG00000204246 chr9:104536049-104536049;G/C missense_variant False OR13C3@p.L145V 1 0.149700599 ENSG00000204246 chr9:104536381-104536381;G/C missense_variant False OR13C3@p.L69V 1 0.109090909 ENSG00000204246 chr9:104536609-104536609;G/C missense_variant False OR11A1@p.S107C 1 0.266666667 ENSG00000204694 chr6:29427322-29427322;G/C missense_variant False OR10Z1@p.T246R 1 0.563559322 ENSG00000198967 chr1:158607175-158607175;C/G missense_variant False OR10J5@p.S274L 1 0.255813953 ENSG00000184155 chr1:159535187-159535187;G/A missense_variant False OR10Q1@p.A280T 1 0.164383562 ENSG00000180475 chr11:58228038-58228038;C/T missense_variant False OR10R2@p.G139R 1 0.710900474 ENSG00000198965 chr1:158480292-158480292;G/C missense_variant False OR10R2@p.F123S 1 0.225071225 ENSG00000198965 chr1:158480245-158480245;T/C missense_variant False OR10R2@p.D200E 1 0.480952381 ENSG00000198965 chr1:158480477-158480477;C/A missense_variant False OR10R2@p.A257V 1 0.262295082 ENSG00000198965 chr1:158480647-158480647;C/T missense_variant False OR10R2@p.A167V 1 0.415662651 ENSG00000198965 chr1:158480377-158480377;C/T missense_variant False OR10Q1@p.F65L 1 0.41509434 ENSG00000180475 chr11:58228681-58228681;G/T missense_variant False OR10P1@p.R195S 1 0.448275862 ENSG00000175398 chr12:55637476-55637476;G/C missense_variant False OR10Z1@p.R80I 1 0.650224215 ENSG00000198967 chr1:158606677-158606677;G/T missense_variant False OR10K2@p.Q88H 1 0.25390625 ENSG00000180708 chr1:158420603-158420603;C/G missense_variant False OR10K1@p.M59L 1 0.25 ENSG00000173285 chr1:158465736-158465736;A/T missense_variant False OR10K1@p.L166V 1 0.263358779 ENSG00000173285 chr1:158466057-158466057;C/G missense_variant False OR10K1@p.E11D 1 0.25 ENSG00000173285 chr1:158465594-158465594;G/T missense_variant False OR10K1@p.D121H 1 0.325 ENSG00000173285 chr1:158465922-158465922;G/C missense_variant False OR10J5@p.S93P 1 0.292682927 ENSG00000184155 chr1:159535731-159535731;A/G missense_variant False OR10R2@p.M121I 1 0.066666667 ENSG00000198965 chr1:158480240-158480240;G/A missense_variant False OR10S1@p.R277C 1 0.289719626 ENSG00000196248 chr11:123976863-123976863;G/A missense_variant False OR10S1@p.S49G 1 0.2 ENSG00000196248 chr11:123977547-123977547;T/C missense_variant False OR10S1@p.T124I 1 0.28125 ENSG00000196248 chr11:123977321-123977321;G/A missense_variant False OR10T2@p.F105L 1 0.433333333 ENSG00000186306 chr1:158399154-158399154;A/G missense_variant False OR10T2@p.F238Y 1 0.096774194 ENSG00000186306 chr1:158398754-158398754;A/T missense_variant False OR10T2@p.L28F 1 0.175 ENSG00000186306 chr1:158399385-158399385;G/A missense_variant False OR10V1@p.A189V 1 0.146341463 ENSG00000172289 chr11:59713280-59713280;G/A missense_variant False OR10V1@p.D300H 1 0.131034483 ENSG00000172289 chr11:59712948-59712948;C/G missense_variant False OR10V1@p.R230Q 1 0.355769231 ENSG00000172289 chr11:59713157-59713157;C/T missense_variant False OR10X1@p.E86K 1 0.276315789 ENSG00000279111 chr1:158579644-158579644;C/T missense_variant False OR10X1@p.L115F 1 0.146892655 ENSG00000279111 chr1:158579555-158579555;T/A missense_variant False OR10X1@p.V46A 1 0.297468354 ENSG00000279111 chr1:158579763-158579763;A/G missense_variant False OR10Z1@p.D191N 1 0.321917808 ENSG00000198967 chr1:158607009-158607009;G/A missense_variant False OR10Z1@p.I216T 1 0.458333333 ENSG00000198967 chr1:158607085-158607085;T/C missense_variant False OR10Z1@p.K312N 1 0.060606061 ENSG00000198967 chr1:158607374-158607374;A/C missense_variant False OR10Z1@p.Q100H 1 0.64084507 ENSG00000198967 chr1:158606738-158606738;G/T missense_variant False OPRK1@p.R361Q 1 0.434782609 ENSG00000082556 chr8:53229358-53229358;C/T missense_variant False OPRK1@p.M151I 1 0.333333333 ENSG00000082556 chr8:53234916-53234916;C/T missense_variant False OPRK1@p.G319V 1 0.424242424 ENSG00000082556 chr8:53229484-53229484;C/A missense_variant False OLA1@p.E284K 1 0.375 ENSG00000138430 chr2:174081943-174081943;C/T missense_variant False OLFM2@p.H446Y 1 0.333333333 ENSG00000105088 chr19:9854215-9854215;G/A missense_variant False OLFM2@p.A141V 1 0.229665072 ENSG00000105088 chr19:9857421-9857421;G/A missense_variant False OLFM1@p.E123D 1 0.277777778 ENSG00000130558 chr9:135095932-135095932;G/C missense_variant False OLAH@p.S148L 1 0.205882353 ENSG00000152463 chr10:15065624-15065624;C/T missense_variant False OLAH@p.L71I 1 0.202247191 ENSG00000152463 chr10:15061771-15061771;C/A missense_variant False OLAH@p.H237D 1 0.426829268 ENSG00000152463 chr10:15073140-15073140;C/G missense_variant False OLA1@p.E168Q 1 0.287671233 ENSG00000138430 chr2:174141872-174141872;C/G missense_variant False OIP5@p.D186N 1 0.144329897 ENSG00000104147 chr15:41313311-41313311;C/T missense_variant False OIT3@p.V447I 1 0.276595745 ENSG00000138315 chr10:72924616-72924616;G/A missense_variant False OIT3@p.Q46E 1 0.24 ENSG00000138315 chr10:72898738-72898738;C/G missense_variant False OIT3@p.G170E 1 0.277777778 ENSG00000138315 chr10:72900449-72900449;G/A missense_variant False OIT3@p.C509F 1 0.304347826 ENSG00000138315 chr10:72932412-72932412;G/T missense_variant False OIP5@p.T176A 1 0.481481481 ENSG00000104147 chr15:41313341-41313341;T/C missense_variant False OIP5@p.E73D 1 0.316455696 ENSG00000104147 chr15:41332343-41332343;C/G missense_variant False OLFM2@p.M375I 1 0.193548387 ENSG00000105088 chr19:9854426-9854426;C/A missense_variant False OLFM2@p.R368C 1 0.336633663 ENSG00000105088 chr19:9854449-9854449;G/A missense_variant False OLFM2@p.S451F 1 0.256097561 ENSG00000105088 chr19:9854199-9854199;G/A missense_variant False OLFM2@p.S78P 1 0.279069767 ENSG00000105088 chr19:9857843-9857843;A/G missense_variant False OLFM3@p.A247P 1 0.100558659 ENSG00000118733 chr1:101806096-101806096;C/G missense_variant False OLFM3@p.D62N 1 0.46835443 ENSG00000118733 chr1:101836971-101836971;C/T missense_variant False OLFM3@p.G300S 1 0.358974359 ENSG00000118733 chr1:101804777-101804777;C/T missense_variant False OLFM3@p.G459S 1 0.408450704 ENSG00000118733 chr1:101804300-101804300;C/T missense_variant False OLFM3@p.L169I 1 0.2 ENSG00000118733 chr1:101825173-101825173;A/T missense_variant False OLFM3@p.M17I 1 0.194915254 ENSG00000118733 chr1:101846923-101846923;C/G missense_variant False OLFM3@p.R135Q 1 0.573170732 ENSG00000118733 chr1:101830700-101830700;C/T missense_variant False OLFM3@p.S425F 1 0.131578947 ENSG00000118733 chr1:101804401-101804401;G/A missense_variant False OLFM4@p.Q381E 1 0.288288288 ENSG00000102837 chr13:53050379-53050379;C/G missense_variant False OLFM4@p.V378I 1 0.21399177 ENSG00000102837 chr13:53050370-53050370;G/A missense_variant False OLFML1@p.E128K 1 0.307692308 ENSG00000183801 chr11:7488379-7488379;G/A missense_variant False OLFML1@p.R40P 1 0.239130435 ENSG00000183801 chr11:7485994-7485994;G/C missense_variant False OLFML2A@p.M419I 1 0.5625 ENSG00000185585 chr9:124807869-124807869;G/A missense_variant False OIP5@p.E59K 1 0.321428571 ENSG00000104147 chr15:41332387-41332387;C/T missense_variant False OGT@p.Y269C 1 0.465116279 ENSG00000147162 chrX:71555267-71555267;A/G missense_variant False OLFML2B@p.Y159C 1 0.269230769 ENSG00000162745 chr1:162017470-162017470;T/C missense_variant False OGDHL@p.E554K 1 0.328947368 ENSG00000197444 chr10:49744722-49744722;C/T missense_variant False OGDHL@p.S248F 1 0.176470588 ENSG00000197444 chr10:49751833-49751833;G/A missense_variant False OGDHL@p.R351Q 1 0.423076923 ENSG00000197444 chr10:49747144-49747144;C/T missense_variant False OGDHL@p.M231I 1 0.074534161 ENSG00000197444 chr10:49751883-49751883;C/T missense_variant False OGDHL@p.I316F 1 0.130434783 ENSG00000197444 chr10:49749767-49749767;T/A missense_variant False OGDHL@p.F889L 1 0.06 ENSG00000197444 chr10:49736446-49736446;A/G missense_variant False OGDHL@p.E873Q 1 0.212765957 ENSG00000197444 chr10:49736494-49736494;C/G missense_variant False OGDH@p.Y965N 1 0.466101695 ENSG00000105953 chr7:44707678-44707678;T/A missense_variant False OGT@p.T819I 1 0.515151515 ENSG00000147162 chrX:71564620-71564620;C/T missense_variant False OGDH@p.V302M 1 0.303571429 ENSG00000105953 chr7:44674526-44674526;G/A missense_variant False OGDH@p.R972T 1 0.201680672 ENSG00000105953 chr7:44707700-44707700;G/C missense_variant False OGDH@p.R680Q 1 0.134228188 ENSG00000105953 chr7:44697052-44697052;G/A missense_variant False OGDH@p.R1008P 1 0.13592233 ENSG00000105953 chr7:44707950-44707950;G/C missense_variant False OGDH@p.Q693H 1 0.137254902 ENSG00000105953 chr7:44697397-44697397;G/C missense_variant False OGDH@p.Q35E 1 0.35 ENSG00000105953 chr7:44624446-44624446;C/G missense_variant False OGDHL@p.S920C 1 0.285714286 ENSG00000197444 chr10:49736173-49736173;G/C missense_variant False OGFOD1@p.E289K 1 0.125 ENSG00000087263 chr16:56467983-56467983;G/A missense_variant False OGFOD1@p.E415K 1 0.157894737 ENSG00000087263 chr16:56470749-56470749;G/A missense_variant False OGFOD1@p.E474K 1 0.387096774 ENSG00000087263 chr16:56475518-56475518;G/A missense_variant False OGFRL1@p.A333T 1 0.181818182 ENSG00000119900 chr6:71301690-71301690;G/A missense_variant False OGFRL1@p.E138K 1 0.1875 ENSG00000119900 chr6:71296328-71296328;G/A missense_variant False OGFRL1@p.E401Q 1 0.405405405 ENSG00000119900 chr6:71301894-71301894;G/C missense_variant False OGFRL1@p.G206A 1 0.205882353 ENSG00000119900 chr6:71296742-71296742;G/C missense_variant False OGFRL1@p.M342T 1 0.14516129 ENSG00000119900 chr6:71301718-71301718;T/C missense_variant False OGFRL1@p.R392K 1 0.46875 ENSG00000119900 chr6:71301868-71301868;G/A missense_variant False OGG1@p.N151S 1 0.220930233 ENSG00000114026 chr3:9751836-9751836;A/G missense_variant False OGG1@p.R324H 1 0.190721649 ENSG00000114026 chr3:9757083-9757083;G/A missense_variant False OGG1@p.S118F 1 0.4 ENSG00000114026 chr3:9751160-9751160;C/T missense_variant False OGN@p.R147T 1 0.29787234 ENSG00000106809 chr9:92390044-92390044;C/G missense_variant False OGN@p.R28C 1 0.26744186 ENSG00000106809 chr9:92403326-92403326;G/A missense_variant False OGT@p.G820A 1 0.16 ENSG00000147162 chrX:71564623-71564623;G/C missense_variant False OGT@p.R160C 1 0.266666667 ENSG00000147162 chrX:71544582-71544582;C/T missense_variant False OLFML2B@p.T346S 1 0.257425743 ENSG00000162745 chr1:161998263-161998263;T/A missense_variant False OLFML3@p.R376H 1 0.136363636 ENSG00000116774 chr1:113981675-113981675;G/A missense_variant False OPRD1@p.S247L 1 0.28 ENSG00000116329 chr1:28862904-28862904;C/T missense_variant False OPCML@p.S142P 1 0.23255814 ENSG00000183715 chr11:132529163-132529163;A/G missense_variant False OPHN1@p.Q755E 1 0.225806452 ENSG00000079482 chrX:68053706-68053706;G/C missense_variant False OPHN1@p.M246V 1 0.323529412 ENSG00000079482 chrX:68210249-68210249;T/C missense_variant False OPHN1@p.K672N 1 0.113636364 ENSG00000079482 chrX:68063996-68063996;C/A missense_variant False OPHN1@p.I36M 1 0.276923077 ENSG00000079482 chrX:68432913-68432913;G/C missense_variant False OPHN1@p.F60C 1 0.147540984 ENSG00000079482 chrX:68299072-68299072;A/C missense_variant False OPHN1@p.E135V 1 0.44047619 ENSG00000079482 chrX:68234569-68234569;T/A missense_variant False OPCML@p.R32L 1 0.578431373 ENSG00000183715 chr11:132942998-132942998;C/A missense_variant False OPA1@p.K978N 1 0.066666667 ENSG00000198836 chr3:193667231-193667231;G/C missense_variant False OPCML@p.N322I 1 0.137931034 ENSG00000183715 chr11:132420266-132420266;T/A missense_variant False OPCML@p.C157W 1 0.243902439 ENSG00000183715 chr11:132529116-132529116;A/C missense_variant False OPA3@p.I68M 1 0.507042254 ENSG00000125741 chr19:45553850-45553850;G/C missense_variant False OPA3@p.E86Q 1 0.595959596 ENSG00000125741 chr19:45529343-45529343;C/G missense_variant False OPA3@p.E35Q 1 0.283236994 ENSG00000125741 chr19:45584662-45584662;C/G missense_variant False OPA1@p.T716I 1 0.395833333 ENSG00000198836 chr3:193654996-193654996;C/T missense_variant False OPLAH@p.E575K 1 0.260869565 ENSG00000178814 chr8:144056739-144056739;C/T missense_variant False OPLAH@p.K932N 1 0.061946903 ENSG00000178814 chr8:144053284-144053284;C/A missense_variant False OPLAH@p.S358Y 1 0.160714286 ENSG00000178814 chr8:144058025-144058025;G/T missense_variant False OPN1LW@p.A245G 1 0.351648352 ENSG00000102076 chrX:154154729-154154729;C/G missense_variant False OPN1LW@p.A311T 1 0.86407767 ENSG00000102076 chrX:154156480-154156480;G/A missense_variant False OPN1LW@p.A76T 1 0.242857143 ENSG00000102076 chrX:154150769-154150769;G/A missense_variant False OPN1LW@p.P301T 1 0.13963964 ENSG00000102076 chrX:154156450-154156450;C/A missense_variant False OPN1MW@p.R268H 1 0.346534653 ENSG00000268221 chrX:154193466-154193466;G/A missense_variant False OPN1SW@p.L73V 1 0.808888889 ENSG00000128617 chr7:128775574-128775574;G/C missense_variant False OPN1SW@p.S292F 1 0.2 ENSG00000128617 chr7:128773701-128773701;G/A missense_variant False OPN1SW@p.S77C 1 0.086124402 ENSG00000128617 chr7:128775561-128775561;G/C missense_variant False OPN3@p.R314K 1 0.236842105 ENSG00000203668 chr1:241597750-241597750;C/T missense_variant False OPN4@p.L307F 1 0.296296296 ENSG00000122375 chr10:86660013-86660013;C/T missense_variant False OPN5@p.I73M 1 0.14893617 ENSG00000124818 chr6:47786603-47786603;C/G missense_variant False OPN5@p.S288F 1 0.163043478 ENSG00000124818 chr6:47808260-47808260;C/T missense_variant False OPRD1@p.R244C 1 0.130434783 ENSG00000116329 chr1:28862894-28862894;C/T missense_variant False OPRD1@p.S242T 1 0.172413793 ENSG00000116329 chr1:28862889-28862889;G/C missense_variant False OPA1@p.R96T 1 0.181818182 ENSG00000198836 chr3:193614977-193614977;G/C missense_variant False OPA1@p.E851Q 1 0.428571429 ENSG00000198836 chr3:193662852-193662852;G/C missense_variant False OLFML3@p.R77T 1 0.381679389 ENSG00000116774 chr1:113980447-113980447;G/C missense_variant False OMA1@p.H319Y 1 0.073929961 ENSG00000162600 chr1:58534009-58534009;G/A missense_variant False OMP@p.A120V 1 0.5 ENSG00000254550 chr11:77103198-77103198;C/T missense_variant False OMG@p.I303L 1 0.483606557 ENSG00000126861 chr17:31295425-31295425;T/G missense_variant False OMD@p.V283A 1 0.413793103 ENSG00000127083 chr9:92416711-92416711;A/G missense_variant False OMA1@p.Y448C 1 0.350877193 ENSG00000162600 chr1:58506082-58506082;T/C missense_variant False OMA1@p.S469C 1 0.566037736 ENSG00000162600 chr1:58481134-58481134;G/C missense_variant False OMA1@p.S105L 1 0.44047619 ENSG00000162600 chr1:58538981-58538981;G/A missense_variant False OLR1@p.D16N 1 0.195121951 ENSG00000173391 chr12:10172032-10172032;C/T missense_variant False OPA1@p.E747Q 1 0.233870968 ENSG00000198836 chr3:193657140-193657140;G/C missense_variant False OLIG3@p.R58W 1 0.108108108 ENSG00000177468 chr6:137493999-137493999;G/A missense_variant False OLIG3@p.Q79L 1 0.338461538 ENSG00000177468 chr6:137493935-137493935;T/A missense_variant False OLIG3@p.A113T 1 0.163265306 ENSG00000177468 chr6:137493834-137493834;C/T missense_variant False OLIG2@p.A33T 1 0.379310345 ENSG00000205927 chr21:33026959-33026959;G/A missense_variant False OLIG1@p.E130K 1 0.285714286 ENSG00000184221 chr21:33070634-33070634;G/A missense_variant False OLFML3@p.T305A 1 0.388059701 ENSG00000116774 chr1:113981461-113981461;A/G missense_variant False OMP@p.R54C 1 0.157894737 ENSG00000254550 chr11:77102999-77102999;C/T missense_variant False OMP@p.S157F 1 0.129032258 ENSG00000254550 chr11:77103309-77103309;C/T missense_variant False ONECUT1@p.I292M 1 0.255172414 ENSG00000169856 chr15:52789009-52789009;G/C missense_variant False ONECUT1@p.S338G 1 0.313432836 ENSG00000169856 chr15:52788873-52788873;T/C missense_variant False ONECUT1@p.V242L 1 0.509259259 ENSG00000169856 chr15:52789161-52789161;C/A missense_variant False ONECUT2@p.L489V 1 0.303030303 ENSG00000119547 chr18:57476673-57476673;C/G missense_variant False ONECUT2@p.R438C 1 0.179487179 ENSG00000119547 chr18:57476520-57476520;C/T missense_variant False ONECUT2@p.S369T 1 0.25 ENSG00000119547 chr18:57436821-57436821;T/A missense_variant False OOEP@p.R25H 1 0.26618705 ENSG00000203907 chr6:73369719-73369719;C/T missense_variant False OOEP@p.R35H 1 0.39047619 ENSG00000203907 chr6:73369689-73369689;C/T missense_variant False OOSP2@p.E18K 1 0.288135593 ENSG00000149507 chr11:60040511-60040511;G/A missense_variant False OPA1@p.C929S 1 0.255555556 ENSG00000198836 chr3:193666303-193666303;G/C missense_variant False OPA1@p.D351N 1 0.238095238 ENSG00000198836 chr3:193637967-193637967;G/A missense_variant False OPA1@p.D931H 1 0.166666667 ENSG00000198836 chr3:193666308-193666308;G/C missense_variant False OPA1@p.E268Q 1 0.22754491 ENSG00000198836 chr3:193631624-193631624;G/C missense_variant False OPA1@p.E289K 1 0.122580645 ENSG00000198836 chr3:193635439-193635439;G/A missense_variant False OPA1@p.E613Q 1 0.061728395 ENSG00000198836 chr3:193647147-193647147;G/C missense_variant False OR13C3@p.R329I 1 0.43902439 ENSG00000204246 chr9:104535828-104535828;C/A missense_variant False OR13C3@p.S83F 1 0.356321839 ENSG00000204246 chr9:104536566-104536566;G/A missense_variant False OR13C3@p.T8I 1 0.575757576 ENSG00000204246 chr9:104536791-104536791;G/A missense_variant False OR2J3@p.L58V 1 0.103658537 ENSG00000204701 chr6:29112062-29112062;C/G missense_variant False OR2L2@p.L42Q 1 0.065830721 ENSG00000203663 chr1:248038392-248038392;T/A missense_variant False OR2L2@p.D120N 1 0.182432432 ENSG00000203663 chr1:248038625-248038625;G/A missense_variant False OR2L13@p.L264F 1 0.299319728 ENSG00000196071 chr1:248100165-248100165;C/T missense_variant False OR2K2@p.Y89C 1 0.366666667 ENSG00000171133 chr9:111328255-111328255;T/C missense_variant False OR2K2@p.A271V 1 0.129032258 ENSG00000171133 chr9:111327709-111327709;G/A missense_variant False OR2J3@p.V240L 1 0.242857143 ENSG00000204701 chr6:29112608-29112608;G/T missense_variant False OR2J3@p.L291V 1 0.120689655 ENSG00000204701 chr6:29112761-29112761;C/G missense_variant False OR2H1@p.I183N 1 0.037037037 ENSG00000204688 chr6:29462317-29462317;T/A missense_variant False OR2J3@p.F276Y 1 0.397260274 ENSG00000204701 chr6:29112717-29112717;T/A missense_variant False OR2J3@p.A186V 1 0.494117647 ENSG00000204701 chr6:29112447-29112447;C/T missense_variant False OR2J2@p.V238L 1 0.305882353 ENSG00000204700 chr6:29174347-29174347;G/T missense_variant False OR2J2@p.S268Y 1 0.463636364 ENSG00000204700 chr6:29174438-29174438;C/A missense_variant False OR2H2@p.E306Q 1 0.382978723 ENSG00000204657 chr6:29588860-29588860;G/C missense_variant False OR2H1@p.S154L 1 0.582278481 ENSG00000204688 chr6:29462230-29462230;C/T missense_variant False OR2L2@p.P132L 1 0.375 ENSG00000203663 chr1:248038662-248038662;C/T missense_variant False OR2L2@p.S229F 1 0.289308176 ENSG00000203663 chr1:248038953-248038953;C/T missense_variant False OR2L3@p.D10N 1 0.25136612 ENSG00000198128 chr1:248060709-248060709;G/A missense_variant False OR2L3@p.D179N 1 0.182352941 ENSG00000198128 chr1:248061216-248061216;G/A missense_variant False OR2L3@p.I153M 1 0.129310345 ENSG00000198128 chr1:248061140-248061140;C/G missense_variant False OR2L3@p.M227I 1 0.376344086 ENSG00000198128 chr1:248061362-248061362;G/A missense_variant False OR2L3@p.R260C 1 0.272727273 ENSG00000198128 chr1:248061459-248061459;C/T missense_variant False OR2L8@p.G108R 1 0.097046414 ENSG00000279263 chr1:247949179-247949179;G/C missense_variant False OR2L8@p.I153M 1 0.103448276 ENSG00000279263 chr1:247949316-247949316;C/G missense_variant False OR2L8@p.L259V 1 0.267857143 ENSG00000279263 chr1:247949632-247949632;C/G missense_variant False OR2L8@p.P282S 1 0.264516129 ENSG00000279263 chr1:247949701-247949701;C/T missense_variant False OR2M2@p.L27F 1 0.449494949 ENSG00000198601 chr1:248180064-248180064;C/T missense_variant False OR2M2@p.S331F 1 0.325203252 ENSG00000198601 chr1:248180977-248180977;C/T missense_variant False OR2M3@p.F8L 1 0.12195122 ENSG00000228198 chr1:248203091-248203091;C/A missense_variant False OR2M3@p.M72K 1 0.18722467 ENSG00000228198 chr1:248203282-248203282;T/A missense_variant False OR2M3@p.R261Q 1 0.31372549 ENSG00000228198 chr1:248203849-248203849;G/A missense_variant False OR2M3@p.R266H 1 0.244019139 ENSG00000228198 chr1:248203864-248203864;G/A missense_variant False OR2H1@p.P168T 1 0.295454545 ENSG00000204688 chr6:29462271-29462271;C/A missense_variant False OR2G6@p.R234H 1 0.259259259 ENSG00000188558 chr1:248522347-248522347;G/A missense_variant False OR2M4@p.V221D 1 0.122807018 ENSG00000171180 chr1:248239590-248239590;T/A missense_variant False OR2D2@p.M228I 1 0.306122449 ENSG00000166368 chr11:6891817-6891817;C/T missense_variant False OR2F1@p.L226I 1 0.193548387 ENSG00000213215 chr7:143960646-143960646;C/A missense_variant False OR2D3@p.V321A 1 0.304347826 ENSG00000178358 chr11:6921963-6921963;T/C missense_variant False OR2D3@p.T211I 1 0.145833333 ENSG00000178358 chr11:6921633-6921633;C/T missense_variant False OR2D3@p.R80T 1 0.461538462 ENSG00000178358 chr11:6921240-6921240;G/C missense_variant False OR2D3@p.L286M 1 0.191780822 ENSG00000178358 chr11:6921857-6921857;C/A missense_variant False OR2D3@p.I29M 1 0.245614035 ENSG00000178358 chr11:6921088-6921088;C/G missense_variant False OR2D2@p.L102F 1 0.114285714 ENSG00000166368 chr11:6892197-6892197;G/A missense_variant False OR2G3@p.T284I 1 0.210526316 ENSG00000177476 chr1:247606436-247606436;C/T missense_variant False OR2C3@p.L188M 1 0.083333333 ENSG00000196242 chr1:247531950-247531950;G/T missense_variant False OR2C3@p.A318V 1 0.26984127 ENSG00000196242 chr1:247531559-247531559;G/A missense_variant False OR2C3@p.A125T 1 0.28125 ENSG00000196242 chr1:247532139-247532139;C/T missense_variant False OR2C1@p.V78A 1 0.082191781 ENSG00000168158 chr16:3356173-3356173;T/C missense_variant False OR2C1@p.S67C 1 0.18957346 ENSG00000168158 chr16:3356140-3356140;C/G missense_variant False OR2C1@p.F62L 1 0.147651007 ENSG00000168158 chr16:3356126-3356126;C/G missense_variant False OR2F1@p.T240K 1 0.473684211 ENSG00000213215 chr7:143960689-143960689;C/A missense_variant False OR2F2@p.D52H 1 0.302040816 ENSG00000221910 chr7:143935386-143935386;G/C missense_variant False OR2F2@p.I274M 1 0.254716981 ENSG00000221910 chr7:143936054-143936054;C/G missense_variant False OR2F2@p.R186M 1 0.343137255 ENSG00000221910 chr7:143935789-143935789;G/T missense_variant False OR2G2@p.A240T 1 0.23015873 ENSG00000177489 chr1:247589077-247589077;G/A missense_variant False OR2G2@p.C172Y 1 0.494736842 ENSG00000177489 chr1:247588874-247588874;G/A missense_variant False OR2G2@p.E114K 1 0.248587571 ENSG00000177489 chr1:247588699-247588699;G/A missense_variant False OR2G2@p.E9K 1 0.142857143 ENSG00000177489 chr1:247588384-247588384;G/A missense_variant False OR2G2@p.I42V 1 0.528301887 ENSG00000177489 chr1:247588483-247588483;A/G missense_variant False OR2G2@p.K267N 1 0.225641026 ENSG00000177489 chr1:247589160-247589160;G/T missense_variant False OR2G2@p.R5T 1 0.246376812 ENSG00000177489 chr1:247588373-247588373;G/C missense_variant False OR2G2@p.S215L 1 0.244680851 ENSG00000177489 chr1:247589003-247589003;C/T missense_variant False OR2G2@p.T282I 1 0.379213483 ENSG00000177489 chr1:247589204-247589204;C/T missense_variant False OR2G2@p.V307F 1 0.215686275 ENSG00000177489 chr1:247589278-247589278;G/T missense_variant False OR2G3@p.R139W 1 0.186335404 ENSG00000177476 chr1:247606000-247606000;C/T missense_variant False OR2G3@p.S215F 1 0.191489362 ENSG00000177476 chr1:247606229-247606229;C/T missense_variant False OR2G3@p.S8T 1 0.402597403 ENSG00000177476 chr1:247605607-247605607;T/A missense_variant False OR2M3@p.R266L 1 0.342541436 ENSG00000228198 chr1:248203864-248203864;G/T missense_variant False OR2M5@p.F277L 1 0.18115942 ENSG00000162727 chr1:248145978-248145978;C/G missense_variant False OR2B6@p.S217L 1 0.202290076 ENSG00000124657 chr6:27957890-27957890;C/T missense_variant False OR2T4@p.D187N 1 0.257575758 ENSG00000196944 chr1:248362139-248362139;G/A missense_variant False OR2T6@p.F168L 1 0.24 ENSG00000198104 chr1:248388112-248388112;C/G missense_variant False OR2T4@p.P161T 1 0.059016393 ENSG00000196944 chr1:248362061-248362061;C/A missense_variant False OR2T4@p.L252P 1 0.070512821 ENSG00000196944 chr1:248362335-248362335;T/C missense_variant False OR2T4@p.L240P 1 0.073076923 ENSG00000196944 chr1:248362299-248362299;T/C missense_variant False OR2T4@p.K112N 1 0.365714286 ENSG00000196944 chr1:248361916-248361916;G/T missense_variant False OR2T4@p.G285V 1 0.102040816 ENSG00000196944 chr1:248362434-248362434;G/T missense_variant False OR2T3@p.D196N 1 0.443243243 ENSG00000196539 chr1:248473936-248473936;G/A missense_variant False OR2T33@p.I287M 1 0.338709677 ENSG00000177212 chr1:248272954-248272954;G/C missense_variant False OR2T35@p.Y252N 1 0.203389831 ENSG00000177151 chr1:248638505-248638505;A/T missense_variant False OR2T34@p.S248C 1 0.141509434 ENSG00000183310 chr1:248574015-248574015;G/C missense_variant False OR2T34@p.L120P 1 0.134328358 ENSG00000183310 chr1:248574399-248574399;A/G missense_variant False OR2T33@p.Y118H 1 0.240384615 ENSG00000177212 chr1:248273463-248273463;A/G missense_variant False OR2T33@p.S265F 1 0.116883117 ENSG00000177212 chr1:248273021-248273021;G/A missense_variant False OR2T33@p.R184H 1 0.128205128 ENSG00000177212 chr1:248273264-248273264;C/T missense_variant False OR2T6@p.F178Y 1 0.095238095 ENSG00000198104 chr1:248388141-248388141;T/A missense_variant False OR2T6@p.P58T 1 0.208333333 ENSG00000198104 chr1:248387780-248387780;C/A missense_variant False OR2T6@p.R10T 1 0.195652174 ENSG00000198104 chr1:248387637-248387637;G/C missense_variant False OR2T8@p.S265C 1 0.24 ENSG00000177462 chr1:247921811-247921811;C/G missense_variant False OR2V2@p.E2Q 1 0.392473118 ENSG00000182613 chr5:181154946-181154946;G/C missense_variant False OR2V2@p.L289Sfs*5 1 0.494623656 ENSG00000182613 chr5:181155803-181155803;C/- frameshift_variant False OR2V2@p.M229V 1 0.175879397 ENSG00000182613 chr5:181155627-181155627;A/G missense_variant False OR2V2@p.P134L 1 0.4375 ENSG00000182613 chr5:181155343-181155343;C/T missense_variant False OR2V2@p.P80R 1 0.347826087 ENSG00000182613 chr5:181155181-181155181;C/G missense_variant False OR2V2@p.Q160H 1 0.192771084 ENSG00000182613 chr5:181155422-181155422;G/C missense_variant False OR2V2@p.T23I 1 0.495145631 ENSG00000182613 chr5:181155010-181155010;C/T missense_variant False OR2W1@p.M238I 1 0.3375 ENSG00000204704 chr6:29044462-29044462;C/T missense_variant False OR2W1@p.M305I 1 0.461538462 ENSG00000204704 chr6:29044261-29044261;C/T missense_variant False OR2W3@p.G96D 1 0.391891892 ENSG00000238243 chr1:247895873-247895873;G/A missense_variant False OR2Z1@p.S19C 1 0.08 ENSG00000181733 chr19:8731083-8731083;A/T missense_variant False OR2Z1@p.S227T 1 0.202898551 ENSG00000181733 chr19:8731708-8731708;G/C missense_variant False OR3A2@p.A246T 1 0.393939394 ENSG00000221882 chr17:3278200-3278200;C/T missense_variant False OR2T33@p.M79I 1 0.419642857 ENSG00000177212 chr1:248273578-248273578;C/A missense_variant False OR2T33@p.A80V 1 0.257042254 ENSG00000177212 chr1:248273576-248273576;G/A missense_variant False OR2M5@p.G308C 1 0.373333333 ENSG00000162727 chr1:248146069-248146069;G/T missense_variant False OR2M7@p.E111K 1 0.453125 ENSG00000177186 chr1:248324238-248324238;C/T missense_variant False OR2T10@p.H226D 1 0.207692308 ENSG00000184022 chr1:248593093-248593093;G/C missense_variant False OR2S2@p.R55C 1 0.419354839 ENSG00000278889 chr9:35957936-35957936;G/A missense_variant False OR2S2@p.L283Ffs*6 1 0.4 ENSG00000278889 chr9:35957252-35957252;G/- frameshift_variant False OR2S2@p.A126V 1 0.345454545 ENSG00000278889 chr9:35957722-35957722;G/A missense_variant False OR2M7@p.Y104C 1 0.459854015 ENSG00000177186 chr1:248324258-248324258;T/C missense_variant False OR2M7@p.H20D 1 0.044585987 ENSG00000177186 chr1:248324511-248324511;G/C missense_variant False OR2M5@p.S43Y 1 0.151898734 ENSG00000162727 chr1:248145275-248145275;C/A missense_variant False OR2T2@p.F113L 1 0.132075472 ENSG00000196240 chr1:248453136-248453136;C/G missense_variant False OR2M5@p.S119C 1 0.246406571 ENSG00000162727 chr1:248145503-248145503;C/G missense_variant False OR2M5@p.N42S 1 0.228381375 ENSG00000162727 chr1:248145272-248145272;A/G missense_variant False OR2M5@p.M118L 1 0.142857143 ENSG00000162727 chr1:248145499-248145499;A/T missense_variant False OR2M5@p.L30M 1 0.398203593 ENSG00000162727 chr1:248145235-248145235;C/A missense_variant False OR2M5@p.L108I 1 0.441734417 ENSG00000162727 chr1:248145469-248145469;C/A missense_variant False OR2M5@p.I158T 1 0.297805643 ENSG00000162727 chr1:248145620-248145620;T/C missense_variant False OR2T10@p.P268L 1 0.174603175 ENSG00000184022 chr1:248592966-248592966;G/A missense_variant False OR2T10@p.S22L 1 0.125 ENSG00000184022 chr1:248593704-248593704;G/A missense_variant False OR2T11@p.D152N 1 0.247058824 ENSG00000279301 chr1:248626675-248626675;C/T missense_variant False OR2T11@p.F253L 1 0.196969697 ENSG00000279301 chr1:248626370-248626370;G/C missense_variant False OR2T11@p.F32L 1 0.320610687 ENSG00000279301 chr1:248627033-248627033;G/C missense_variant False OR2T12@p.A196D 1 0.136986301 ENSG00000177201 chr1:248294992-248294992;G/T missense_variant False OR2T12@p.I199F 1 0.140186916 ENSG00000177201 chr1:248294984-248294984;T/A missense_variant False OR2T12@p.L148V 1 0.090909091 ENSG00000177201 chr1:248295137-248295137;G/C missense_variant False OR2T12@p.M258I 1 0.165605096 ENSG00000177201 chr1:248294805-248294805;C/T missense_variant False OR2T12@p.N308T 1 0.150501672 ENSG00000177201 chr1:248294656-248294656;T/G missense_variant False OR2T1@p.I144K 1 0.100628931 ENSG00000175143 chr1:248406578-248406578;T/A missense_variant False OR2T1@p.L280F 1 0.216606498 ENSG00000175143 chr1:248406985-248406985;C/T missense_variant False OR2T1@p.T239I 1 0.073529412 ENSG00000175143 chr1:248406863-248406863;C/T missense_variant False OR2T1@p.V200A 1 0.229007634 ENSG00000175143 chr1:248406746-248406746;T/C missense_variant False OR2T27@p.G312E 1 0.58974359 ENSG00000187701 chr1:248649950-248649950;C/T missense_variant False OR2T27@p.L143F 1 0.377358491 ENSG00000187701 chr1:248650456-248650456;C/A missense_variant False OR2T27@p.R220I 1 0.642857143 ENSG00000187701 chr1:248650226-248650226;C/A missense_variant False OR2B6@p.S34C 1 0.229166667 ENSG00000124657 chr6:27957341-27957341;C/G missense_variant False OR2B6@p.L276F 1 0.168421053 ENSG00000124657 chr6:27958066-27958066;C/T missense_variant False OR13C4@p.F102L 1 0.045454545 ENSG00000148136 chr9:104526906-104526906;A/G missense_variant False OR14J1@p.P127S 1 0.136986301 ENSG00000204695 chr6:29307068-29307068;C/T missense_variant False OR1A1@p.M104I 1 0.225806452 ENSG00000172146 chr17:3215932-3215932;G/C missense_variant False OR14K1@p.T16I 1 0.357142857 ENSG00000153230 chr1:247738661-247738661;C/T missense_variant False OR14K1@p.L53V 1 0.285714286 ENSG00000153230 chr1:247738771-247738771;C/G missense_variant False OR14K1@p.G160V 1 0.373333333 ENSG00000153230 chr1:247739093-247739093;G/T missense_variant False OR14J1@p.T32I 1 0.142857143 ENSG00000204695 chr6:29306784-29306784;C/T missense_variant False OR14J1@p.S16C 1 0.115151515 ENSG00000204695 chr6:29306736-29306736;C/G missense_variant False OR14J1@p.L97V 1 0.43373494 ENSG00000204695 chr6:29306978-29306978;C/G missense_variant False OR14C36@p.S255F 1 0.495412844 ENSG00000177174 chr1:248349538-248349538;C/T missense_variant False OR14J1@p.K301N 1 0.141666667 ENSG00000204695 chr6:29307592-29307592;G/C missense_variant False OR14J1@p.D178H 1 0.151515152 ENSG00000204695 chr6:29307221-29307221;G/C missense_variant False OR14I1@p.L67F 1 0.15 ENSG00000189181 chr1:248682104-248682104;C/A missense_variant False OR14I1@p.L211V 1 0.122641509 ENSG00000189181 chr1:248681674-248681674;G/C missense_variant False OR14I1@p.G27R 1 1.0 ENSG00000189181 chr1:248682226-248682226;C/T missense_variant False OR14I1@p.F255L 1 0.349056604 ENSG00000189181 chr1:248681542-248681542;A/G missense_variant False OR1A1@p.R219G 1 0.155080214 ENSG00000172146 chr17:3216275-3216275;C/G missense_variant False OR1A1@p.S242Y 1 0.25 ENSG00000172146 chr17:3216345-3216345;C/A missense_variant False OR1A1@p.V271E 1 0.075630252 ENSG00000172146 chr17:3216432-3216432;T/A missense_variant False OR1A1@p.Y276H 1 0.151515152 ENSG00000172146 chr17:3216446-3216446;T/C missense_variant False OR1A2@p.S165G 1 0.401639344 ENSG00000172150 chr17:3198011-3198011;A/G missense_variant False OR1C1@p.A156S 1 0.854166667 ENSG00000221888 chr1:247757941-247757941;C/A missense_variant False OR1C1@p.M297I 1 0.563492063 ENSG00000221888 chr1:247757516-247757516;C/T missense_variant False OR1D2@p.M276L 1 0.086330935 ENSG00000184166 chr17:3092171-3092171;T/A missense_variant False OR1D2@p.R25W 1 0.080645161 ENSG00000184166 chr17:3092924-3092924;G/A missense_variant False OR1D5@p.R302K 1 0.408163265 ENSG00000262628 chr17:3062703-3062703;C/T missense_variant False OR1E2@p.D89E 1 0.42 ENSG00000127780 chr17:3433575-3433575;G/C missense_variant False OR1F1@p.F178S 1 0.257668712 ENSG00000168124 chr16:3204779-3204779;T/C missense_variant False OR1F1@p.L249P 1 0.4 ENSG00000168124 chr16:3204992-3204992;T/C missense_variant False OR1G1@p.E11Q 1 0.268292683 ENSG00000183024 chr17:3127521-3127521;C/G missense_variant False OR1G1@p.E196K 1 0.153846154 ENSG00000183024 chr17:3126966-3126966;C/T missense_variant False OR1G1@p.I50V 1 0.083333333 ENSG00000183024 chr17:3127404-3127404;T/C missense_variant False OR1G1@p.Q24H 1 0.212765957 ENSG00000183024 chr17:3127480-3127480;C/G missense_variant False OR14C36@p.S73C 1 0.603448276 ENSG00000177174 chr1:248348992-248348992;C/G missense_variant False OR14C36@p.S181C 1 0.229885057 ENSG00000177174 chr1:248349316-248349316;C/G missense_variant False OR1G1@p.S262C 1 0.351851852 ENSG00000183024 chr17:3126767-3126767;G/C missense_variant False OR13C8@p.V307I 1 0.230769231 ENSG00000186943 chr9:104570086-104570086;G/A missense_variant False OR13D1@p.E331Q 1 0.337662338 ENSG00000179055 chr9:104695412-104695412;G/C missense_variant False OR13C9@p.V163A 1 0.142857143 ENSG00000136839 chr9:104617717-104617717;A/G missense_variant False OR13C9@p.S178L 1 0.420289855 ENSG00000136839 chr9:104617672-104617672;G/A missense_variant False OR13C9@p.L208F 1 0.174757282 ENSG00000136839 chr9:104617581-104617581;C/G missense_variant False OR13C9@p.H229L 1 0.235955056 ENSG00000136839 chr9:104617519-104617519;T/A missense_variant False OR13C9@p.D277N 1 0.637168142 ENSG00000136839 chr9:104617376-104617376;C/T missense_variant False OR13C8@p.V124L 1 0.211267606 ENSG00000186943 chr9:104569537-104569537;G/T missense_variant False OR14C36@p.R137P 1 0.112903226 ENSG00000177174 chr1:248349184-248349184;G/C missense_variant False OR13C8@p.I174S 1 0.529411765 ENSG00000186943 chr9:104569688-104569688;T/G missense_variant False OR13C8@p.D269N 1 0.3203125 ENSG00000186943 chr9:104569972-104569972;G/A missense_variant False OR13C5@p.T91P 1 0.142857143 ENSG00000277556 chr9:104599143-104599143;T/G missense_variant False OR13C5@p.N269K 1 0.318681319 ENSG00000277556 chr9:104598607-104598607;A/C missense_variant False OR13C5@p.I255V 1 0.380434783 ENSG00000277556 chr9:104598651-104598651;T/C missense_variant False OR13C5@p.F316I 1 0.1 ENSG00000277556 chr9:104598468-104598468;A/T missense_variant False OR13F1@p.E296Q 1 0.821428571 ENSG00000186881 chr9:104505148-104505148;G/C missense_variant False OR13F1@p.M107I 1 0.382352941 ENSG00000186881 chr9:104504583-104504583;G/A missense_variant False OR13G1@p.G13C 1 0.157894737 ENSG00000197437 chr1:247673005-247673005;C/A missense_variant False OR13G1@p.N291I 1 0.047393365 ENSG00000197437 chr1:247672170-247672170;T/A missense_variant False OR13G1@p.R258Afs*14 1 0.385714286 ENSG00000197437 chr1:247672270-247672270;G/- frameshift_variant False OR13G1@p.T264A 1 0.443548387 ENSG00000197437 chr1:247672252-247672252;T/C missense_variant False OR13G1@p.Y57N 1 0.2 ENSG00000197437 chr1:247672873-247672873;A/T missense_variant False OR13H1@p.F167L 1 0.950413223 ENSG00000171054 chrX:131544574-131544574;C/A missense_variant False OR13H1@p.H243Y 1 0.111940299 ENSG00000171054 chrX:131544800-131544800;C/T missense_variant False OR13H1@p.L291M 1 0.27388535 ENSG00000171054 chrX:131544944-131544944;C/A missense_variant False OR13H1@p.M136K 1 0.317241379 ENSG00000171054 chrX:131544480-131544480;T/A missense_variant False OR13H1@p.P286S 1 0.185714286 ENSG00000171054 chrX:131544929-131544929;C/T missense_variant False OR13J1@p.D197N 1 0.346153846 ENSG00000168828 chr9:35869813-35869813;C/T missense_variant False OR13J1@p.S93C 1 0.181818182 ENSG00000168828 chr9:35870124-35870124;G/C missense_variant False OR14A16@p.A184S 1 0.303797468 ENSG00000196772 chr1:247815180-247815180;C/A missense_variant False OR14A16@p.S83Y 1 0.428571429 ENSG00000196772 chr1:247815482-247815482;G/T missense_variant False OR14C36@p.E194K 1 0.279411765 ENSG00000177174 chr1:248349354-248349354;G/A missense_variant False OR1G1@p.R302T 1 0.140625 ENSG00000183024 chr17:3126647-3126647;C/G missense_variant False OR1J1@p.I250M 1 0.134920635 ENSG00000136834 chr9:122477177-122477177;G/C missense_variant False OR2B6@p.F123L 1 0.203883495 ENSG00000124657 chr6:27957609-27957609;T/A missense_variant False OR2A7@p.G305A 1 0.055793991 ENSG00000243896 chr7:144258715-144258715;C/G missense_variant False OR2AG2@p.L27F 1 0.407894737 ENSG00000188124 chr11:6768879-6768879;G/A missense_variant False OR2AG2@p.E25K 1 0.436363636 ENSG00000188124 chr11:6768885-6768885;C/T missense_variant False OR2AG2@p.E111Q 1 0.19047619 ENSG00000188124 chr11:6768627-6768627;C/G missense_variant False OR2AG2@p.A254T 1 0.090909091 ENSG00000188124 chr11:6768198-6768198;C/T missense_variant False OR2AG1@p.S275C 1 0.4 ENSG00000279486 chr11:6785861-6785861;C/G missense_variant False OR2AE1@p.A238P 1 0.2 ENSG00000244623 chr7:99876322-99876322;C/G missense_variant False OR2A4@p.I48N 1 0.169230769 ENSG00000180658 chr6:131701259-131701259;A/T missense_variant False OR2A25@p.H219Y 1 0.273684211 ENSG00000221933 chr7:144074874-144074874;C/T missense_variant False OR2A4@p.H277Y 1 0.25 ENSG00000180658 chr6:131700573-131700573;G/A missense_variant False OR2A4@p.E231K 1 0.253246753 ENSG00000180658 chr6:131700711-131700711;C/T missense_variant False OR2A2@p.S31F 1 0.129251701 ENSG00000221989 chr7:144109674-144109674;C/T missense_variant False OR2A2@p.Q99E 1 0.068627451 ENSG00000221989 chr7:144109877-144109877;C/G missense_variant False OR2A2@p.D120N 1 0.155172414 ENSG00000221989 chr7:144109940-144109940;G/A missense_variant False OR2A2@p.A254V 1 0.529209622 ENSG00000221989 chr7:144110343-144110343;C/T missense_variant False OR2AG2@p.V248I 1 0.558139535 ENSG00000188124 chr11:6768216-6768216;C/T missense_variant False OR2AK2@p.K90_I92del 1 0.18018018 ENSG00000187080 chr1:247965643-247965651;TAAGACCAT/- inframe_deletion False OR2AK2@p.L114F 1 0.142857143 ENSG00000187080 chr1:247965716-247965716;C/T missense_variant False OR2AK2@p.L215V 1 0.884615385 ENSG00000187080 chr1:247966019-247966019;C/G missense_variant False OR2AK2@p.S119C 1 0.325443787 ENSG00000187080 chr1:247965732-247965732;C/G missense_variant False OR2AT4@p.A188G 1 0.452830189 ENSG00000171561 chr11:75089151-75089151;G/C missense_variant False OR2AT4@p.Q200Rfs*37 1 0.352941176 ENSG00000171561 chr11:75089116-75089116;G/- frameshift_variant False OR2AT4@p.S244P 1 0.405405405 ENSG00000171561 chr11:75088984-75088984;A/G missense_variant False OR2B11@p.D300H 1 0.074766355 ENSG00000177535 chr1:247451085-247451085;C/G missense_variant False OR2B11@p.H141D 1 0.709677419 ENSG00000177535 chr1:247451562-247451562;G/C missense_variant False OR2B11@p.V162L 1 0.130434783 ENSG00000177535 chr1:247451499-247451499;C/A missense_variant False OR2B2@p.L47F 1 0.106060606 ENSG00000168131 chr6:27912181-27912181;G/A missense_variant False OR2B2@p.L69Q 1 0.325203252 ENSG00000168131 chr6:27912114-27912114;A/T missense_variant False OR2B2@p.P167S 1 0.071770335 ENSG00000168131 chr6:27911821-27911821;G/A missense_variant False OR2B3@p.C49S 1 0.532608696 ENSG00000204703 chr6:29087103-29087103;C/G missense_variant False OR2B3@p.L276Sfs*10 1 0.15 ENSG00000204703 chr6:29086423-29086423;G/- frameshift_variant False OR2B6@p.E111K 1 0.825 ENSG00000124657 chr6:27957571-27957571;G/A missense_variant False OR2A2@p.A153S 1 0.402173913 ENSG00000221989 chr7:144110039-144110039;G/T missense_variant False OR2A25@p.E110Q 1 0.12345679 ENSG00000221933 chr7:144074547-144074547;G/C missense_variant False OR1J2@p.E139Q 1 0.133333333 ENSG00000197233 chr9:122511216-122511216;G/C missense_variant False OR1L3@p.R271Q 1 0.28125 ENSG00000171481 chr9:122675941-122675941;G/A missense_variant False OR1M1@p.R307I 1 0.319444444 ENSG00000170929 chr19:9094164-9094164;G/T missense_variant False OR1L8@p.Q57E 1 0.14 ENSG00000171496 chr9:122568309-122568309;G/C missense_variant False OR1L8@p.L64F 1 0.111111111 ENSG00000171496 chr9:122568286-122568286;C/G missense_variant False OR1L6@p.F4L 1 0.471153846 ENSG00000171459 chr9:122749751-122749751;T/G missense_variant False OR1L6@p.D89N 1 0.407407407 ENSG00000171459 chr9:122750004-122750004;G/A missense_variant False OR1L4@p.T276K 1 0.88372093 ENSG00000136939 chr9:122724816-122724816;C/A missense_variant False OR1L3@p.G108R 1 0.209302326 ENSG00000171481 chr9:122675451-122675451;G/A missense_variant False OR2A25@p.A189V 1 0.134730539 ENSG00000221933 chr7:144074785-144074785;C/T missense_variant False OR1L1@p.P312R 1 0.05907173 ENSG00000173679 chr9:122662500-122662500;C/G missense_variant False OR1L1@p.F199L 1 0.121703854 ENSG00000173679 chr9:122662162-122662162;C/A missense_variant False OR1K1@p.E268K 1 0.094827586 ENSG00000165204 chr9:122800924-122800924;G/A missense_variant False OR1J4@p.Y102H 1 0.449704142 ENSG00000239590 chr9:122519444-122519444;T/C missense_variant False OR1J2@p.S53C 1 0.304932735 ENSG00000197233 chr9:122510959-122510959;C/G missense_variant False OR1J2@p.I71M 1 0.036363636 ENSG00000197233 chr9:122511014-122511014;C/G missense_variant False OR1M1@p.Y177N 1 0.130952381 ENSG00000170929 chr19:9093773-9093773;T/A missense_variant False OR1N2@p.K306E 1 0.35483871 ENSG00000171501 chr9:122554127-122554127;A/G missense_variant False OR1N2@p.S96W 1 0.091549296 ENSG00000171501 chr9:122553498-122553498;C/G missense_variant False OR1Q1@p.M302I 1 0.391891892 ENSG00000165202 chr9:122615643-122615643;G/A missense_variant False OR1Q1@p.M305I 1 0.571428571 ENSG00000165202 chr9:122615652-122615652;G/A missense_variant False OR1S1@p.L39V 1 0.098837209 ENSG00000280204 chr11:58214859-58214859;C/G missense_variant False OR1S1@p.L43I 1 0.036036036 ENSG00000280204 chr11:58214871-58214871;C/A missense_variant False OR1S2@p.F190L 1 0.285714286 ENSG00000197887 chr11:58203612-58203612;G/C missense_variant False OR1S2@p.F44C 1 0.5 ENSG00000197887 chr11:58204051-58204051;A/C missense_variant False OR1S2@p.L305F 1 0.155172414 ENSG00000197887 chr11:58203267-58203267;C/G missense_variant False OR1S2@p.Q9H 1 0.409638554 ENSG00000197887 chr11:58204155-58204155;C/A missense_variant False OR1S2@p.R320T 1 0.078125 ENSG00000197887 chr11:58203223-58203223;C/G missense_variant False OR2A12@p.S145L 1 0.166666667 ENSG00000221858 chr7:144095541-144095541;C/T missense_variant False OR2A12@p.V247A 1 0.168539326 ENSG00000221858 chr7:144095847-144095847;T/C missense_variant False OR2A14@p.P158T 1 0.198312236 ENSG00000221938 chr7:144129584-144129584;C/A missense_variant False OR2A1@p.I91T 1 0.042372881 ENSG00000221970 chr7:144318396-144318396;T/C missense_variant False OR2A1@p.M135I 1 0.132075472 ENSG00000221970 chr7:144318529-144318529;G/A missense_variant False SCRN3@p.F314L 1 0.448598131 ENSG00000144306 chr2:174424499-174424499;T/G missense_variant False SEL1L2@p.W424R 1 0.081081081 ENSG00000101251 chr20:13866836-13866836;A/G missense_variant False SCRT2@p.E159K 1 0.277777778 ENSG00000215397 chr20:664120-664120;C/T missense_variant False UGT1A8@p.M269I 1 0.323636364 ENSG00000242366 chr2:233618514-233618514;G/A missense_variant False UGT2A1@p.N320D 1 0.467741935 ENSG00000173610 chr4:69596288-69596288;T/C missense_variant False UGT2A1@p.G20V 1 0.363636364 ENSG00000173610 chr4:69647586-69647586;C/A missense_variant False UGT2A1@p.E246Q 1 0.304347826 ENSG00000173610 chr4:69599374-69599374;C/G missense_variant False UGT1A9@p.R222C 1 0.27184466 ENSG00000241119 chr2:233672598-233672598;C/T missense_variant False UGT1A9@p.K225R 1 0.607758621 ENSG00000241119 chr2:233672608-233672608;A/G missense_variant False UGT1A8@p.R131Lfs*8 1 0.767857143 ENSG00000242366 chr2:233618099-233618112;GAAAATTAGTAGAA/- frameshift_variant False UGT1A8@p.F120L 1 0.057803468 ENSG00000242366 chr2:233618067-233618067;T/G missense_variant False UGT2A3@p.E231K 1 0.142857143 ENSG00000135220 chr4:68951070-68951070;C/T missense_variant False UGT1A7@p.P149L 1 0.418604651 ENSG00000244122 chr2:233682383-233682383;C/T missense_variant False UGT1A6@p.Q109E 1 0.194444444 ENSG00000167165 chr2:233693329-233693329;C/G missense_variant False UGT1A6@p.P264S 1 0.233009709 ENSG00000167165 chr2:233693794-233693794;C/T missense_variant False UGT1A5@p.T151R 1 0.370473538 ENSG00000288705 chr2:233713443-233713443;C/G missense_variant False UGT1A5@p.S236C 1 0.19266055 ENSG00000288705 chr2:233713698-233713698;C/G missense_variant False UGT1A5@p.R174del 1 0.37295082 ENSG00000288705 chr2:233713510-233713512;GAG/- inframe_deletion False UGT2A3@p.D65Y 1 0.416666667 ENSG00000135220 chr4:68951568-68951568;C/A missense_variant False UGT2A3@p.E263Q 1 0.22 ENSG00000135220 chr4:68945383-68945383;C/G missense_variant False UGGT1@p.Q1210H 1 0.243847875 ENSG00000136731 chr2:128177837-128177837;G/C missense_variant False UGT2B15@p.E143Q 1 0.090909091 ENSG00000196620 chr4:68670192-68670192;C/G missense_variant False UGT2B17@p.M313I 1 0.226950355 ENSG00000197888 chr4:68560603-68560603;C/T missense_variant False UGT2B17@p.H451D 1 0.361111111 ENSG00000197888 chr4:68537867-68537867;G/C missense_variant False UGT2B15@p.N84I 1 0.48427673 ENSG00000196620 chr4:68670368-68670368;T/A missense_variant False UGT2B15@p.G252E 1 0.309859155 ENSG00000196620 chr4:68668158-68668158;C/T missense_variant False UGT2B15@p.E163V 1 0.241666667 ENSG00000196620 chr4:68670131-68670131;T/A missense_variant False UGT2B15@p.E163K 1 0.3099631 ENSG00000196620 chr4:68670132-68670132;C/T missense_variant False UGT2B15@p.D530H 1 0.28 ENSG00000196620 chr4:68647109-68647109;C/G missense_variant False UGT2A3@p.L423F 1 0.145833333 ENSG00000135220 chr4:68930581-68930581;T/G missense_variant False UGT2B11@p.L363V 1 0.254716981 ENSG00000213759 chr4:69205483-69205483;G/C missense_variant False UGT2B11@p.F511S 1 0.372340426 ENSG00000213759 chr4:69200498-69200498;A/G missense_variant False UGT2B11@p.E319Q 1 0.406374502 ENSG00000213759 chr4:69208398-69208398;C/G missense_variant False UGT2B10@p.Y487S 1 0.310734463 ENSG00000109181 chr4:68830752-68830752;A/C missense_variant False UGT2B10@p.E292K 1 0.465437788 ENSG00000109181 chr4:68822277-68822277;G/A missense_variant False UGT2A3@p.V18I 1 0.299065421 ENSG00000135220 chr4:68951709-68951709;C/T missense_variant False UGT1A4@p.M214I 1 0.327160494 ENSG00000244474 chr2:233719462-233719462;G/T missense_variant False UGT1A3@p.S253F 1 0.118343195 ENSG00000288702 chr2:233729884-233729884;C/T missense_variant False UGT1A3@p.P230T 1 0.241192412 ENSG00000288702 chr2:233729814-233729814;C/A missense_variant False UGGT2@p.H596Y 1 0.306358382 ENSG00000102595 chr13:95939983-95939983;G/A missense_variant False UGP2@p.D99H 1 0.451219512 ENSG00000169764 chr2:63882505-63882505;G/C missense_variant False UGGT2@p.V722L 1 0.217391304 ENSG00000102595 chr13:95927064-95927064;C/A missense_variant False UGGT2@p.S230F 1 0.307692308 ENSG00000102595 chr13:95999279-95999279;G/A missense_variant False UGGT2@p.N177Kfs*7 1 0.142857143 ENSG00000102595 chr13:96013433-96013436;TTTG/- frameshift_variant False UGGT2@p.M612I 1 0.165137615 ENSG00000102595 chr13:95937065-95937065;C/T missense_variant False UGGT2@p.K1398N 1 0.181818182 ENSG00000102595 chr13:95853633-95853633;C/G missense_variant False UGGT2@p.G1376E 1 0.072580645 ENSG00000102595 chr13:95854357-95854357;C/T missense_variant False UGT1A3@p.I279V 1 0.317460317 ENSG00000288702 chr2:233729961-233729961;A/G missense_variant False UGGT2@p.E296Q 1 0.137931034 ENSG00000102595 chr13:95990018-95990018;C/G missense_variant False UGGT2@p.E179D 1 0.450980392 ENSG00000102595 chr13:96013430-96013430;C/A missense_variant False UGGT2@p.E1243K 1 0.170731707 ENSG00000102595 chr13:95860801-95860801;C/T missense_variant False UGGT2@p.D1327Y 1 0.21978022 ENSG00000102595 chr13:95856187-95856187;C/A missense_variant False UGGT1@p.Y1179C 1 0.208955224 ENSG00000136731 chr2:128174855-128174855;A/G missense_variant False UGGT1@p.S152L 1 0.397260274 ENSG00000136731 chr2:128109680-128109680;C/T missense_variant False UGP2@p.E420K 1 0.052173913 ENSG00000169764 chr2:63887588-63887588;G/A missense_variant False UGP2@p.E47Q 1 0.139534884 ENSG00000169764 chr2:63856425-63856425;G/C missense_variant False UGP2@p.P221T 1 0.25477707 ENSG00000169764 chr2:63885674-63885674;C/A missense_variant False UGT1A10@p.D260N 1 0.296551724 ENSG00000242515 chr2:233637300-233637300;G/A missense_variant False UGT1A10@p.F203L 1 0.158536585 ENSG00000242515 chr2:233637131-233637131;C/G missense_variant False UGT1A10@p.K132N 1 0.086206897 ENSG00000242515 chr2:233636918-233636918;A/T missense_variant False UGT1A10@p.P191L 1 0.078534031 ENSG00000242515 chr2:233637094-233637094;C/T missense_variant False UGT1A10@p.S165C 1 0.3 ENSG00000242515 chr2:233637016-233637016;C/G missense_variant False UGT1A10@p.S188F 1 0.331632653 ENSG00000242515 chr2:233637085-233637085;C/T missense_variant False UGT1A1@p.E101D 1 0.524324324 ENSG00000241635 chr2:233760590-233760590;G/T missense_variant False UGT1A1@p.E241Gfs*16 1 0.243902439 ENSG00000241635 chr2:233761003-233761004;AG/- frameshift_variant False UGT1A1@p.G96R 1 0.317757009 ENSG00000241635 chr2:233760573-233760573;G/C missense_variant False UGT1A1@p.I159M 1 0.195652174 ENSG00000241635 chr2:233760764-233760764;C/G missense_variant False UGT1A1@p.M390I 1 0.368421053 ENSG00000241635 chr2:233768305-233768305;G/A missense_variant False UGT1A1@p.S250C 1 0.323529412 ENSG00000241635 chr2:233761036-233761036;C/G missense_variant False UGT1A1@p.S343L 1 0.413654618 ENSG00000241635 chr2:233767880-233767880;C/T missense_variant False UGT1A3@p.F89Nfs*20 1 0.18699187 ENSG00000288702 chr2:233729387-233729388;-/GA frameshift_variant False UGT2B17@p.P268S 1 0.78 ENSG00000197888 chr4:68565643-68565643;G/A missense_variant False UGT2B17@p.Q453E 1 0.386206897 ENSG00000197888 chr4:68537861-68537861;G/C missense_variant False UGT2B17@p.S61Y 1 0.150641026 ENSG00000197888 chr4:68568303-68568303;G/T missense_variant False UHRF1BP1@p.S957L 1 0.076923077 None chr6:34859226-34859226;C/T missense_variant False UHRF1BP1L@p.Q1028E 1 0.173913043 None chr12:100058195-100058195;G/C missense_variant False UHRF1BP1L@p.P715Qfs*2 1 0.235294118 None chr12:100059133-100059133;G/- frameshift_variant False UHRF1BP1L@p.N142D 1 0.191176471 None chr12:100098456-100098456;T/C missense_variant False UHRF1BP1L@p.L236V 1 0.256756757 None chr12:100095801-100095801;G/C missense_variant False UHRF1BP1L@p.G512A 1 0.166666667 None chr12:100072686-100072686;C/G missense_variant False UHRF1BP1L@p.E1450Q 1 0.098039216 None chr12:100037683-100037683;C/G missense_variant False UHRF1BP1@p.S690Y 1 0.198019802 None chr6:34858425-34858425;C/A missense_variant False UHRF1BP1@p.C465Y 1 0.180327869 None chr6:34856892-34856892;G/A missense_variant False UHRF1BP1@p.S1103F 1 0.324324324 None chr6:34864094-34864094;C/T missense_variant False UHRF1BP1@p.P624S 1 0.180327869 None chr6:34858226-34858226;C/T missense_variant False UHRF1BP1@p.P105T 1 0.186131387 None chr6:34823323-34823323;C/A missense_variant False UHRF1BP1@p.M91I 1 0.08 None chr6:34823283-34823283;G/A missense_variant False UHRF1BP1@p.I68M 1 0.281690141 None chr6:34821812-34821812;C/G missense_variant False UHRF1BP1@p.E789K 1 0.23857868 None chr6:34858721-34858721;G/A missense_variant False UHRF1BP1L@p.S586F 1 0.166666667 None chr12:100059520-100059520;G/A missense_variant False UHRF1BP1L@p.S721A 1 0.175824176 None chr12:100059116-100059116;A/C missense_variant False UHRF1BP1L@p.S907P 1 0.4 None chr12:100058558-100058558;A/G missense_variant False UHRF1BP1L@p.S929L 1 0.246376812 None chr12:100058491-100058491;G/A missense_variant False UHRF1BP1L@p.V400I 1 0.4125 None chr12:100084566-100084566;C/T missense_variant False UHRF2@p.D774N 1 0.228571429 ENSG00000147854 chr9:6506090-6506090;G/A missense_variant False UHRF2@p.E218Q 1 0.333333333 ENSG00000147854 chr9:6460580-6460580;G/C missense_variant False UHRF2@p.L489V 1 0.2 ENSG00000147854 chr9:6486893-6486893;C/G missense_variant False UHRF2@p.N778S 1 0.4375 ENSG00000147854 chr9:6506103-6506103;A/G missense_variant False UHRF2@p.S155C 1 0.068965517 ENSG00000147854 chr9:6433993-6433993;C/G missense_variant False UHRF2@p.S182F 1 0.159090909 ENSG00000147854 chr9:6434074-6434074;C/T missense_variant False UHRF2@p.S20C 1 0.097560976 ENSG00000147854 chr9:6413549-6413549;C/G missense_variant False UHRF2@p.S396F 1 0.235294118 ENSG00000147854 chr9:6481669-6481669;C/T missense_variant False UIMC1@p.E491K 1 0.06870229 ENSG00000087206 chr5:176943461-176943461;C/T missense_variant False UIMC1@p.I170M 1 0.080291971 ENSG00000087206 chr5:176969245-176969245;G/C missense_variant False UIMC1@p.S14F 1 0.139240506 ENSG00000087206 chr5:176982575-176982575;G/A missense_variant False UIMC1@p.S452C 1 0.061403509 ENSG00000087206 chr5:176951562-176951562;G/C missense_variant False UHRF1BP1@p.E601Q 1 0.417582418 None chr6:34858157-34858157;G/C missense_variant False UHRF1@p.S666F 1 0.146341463 ENSG00000276043 chr19:4954689-4954689;C/T missense_variant False UGT2B28@p.E181K 1 0.597560976 ENSG00000135226 chr4:69281041-69281041;G/A missense_variant False UGT2B7@p.I42V 1 0.298165138 ENSG00000171234 chr4:69096644-69096644;A/G missense_variant False UGT3A1@p.H307R 1 0.098591549 ENSG00000145626 chr5:35957343-35957343;T/C missense_variant False UGT3A1@p.G382S 1 0.215277778 ENSG00000145626 chr5:35955796-35955796;C/T missense_variant False UGT3A1@p.F366S 1 0.516666667 ENSG00000145626 chr5:35955843-35955843;A/G missense_variant False UGT3A1@p.D460N 1 0.618181818 ENSG00000145626 chr5:35954396-35954396;C/T missense_variant False UGT3A1@p.A146T 1 0.373134328 ENSG00000145626 chr5:35965793-35965793;C/T missense_variant False UGT2B7@p.S98L 1 0.276595745 ENSG00000171234 chr4:69096813-69096813;C/T missense_variant False UGT2B4@p.M37I 1 0.338983051 ENSG00000156096 chr4:69495751-69495751;C/T missense_variant False UHRF1@p.F573L 1 0.265060241 ENSG00000276043 chr19:4950897-4950897;T/G missense_variant False UGT2B4@p.E301K 1 0.79 ENSG00000156096 chr4:69489540-69489540;C/T missense_variant False UGT2B4@p.E294Q 1 0.18404908 ENSG00000156096 chr4:69489561-69489561;C/G missense_variant False UGT2B28@p.W463R 1 0.310606061 ENSG00000135226 chr4:69294606-69294606;T/A missense_variant False UGT2B28@p.L11del 1 0.423076923 ENSG00000135226 chr4:69280523-69280525;TTC/- inframe_deletion False UGT2B28@p.L10V 1 0.144186047 ENSG00000135226 chr4:69280528-69280528;C/G missense_variant False UGT2B28@p.H405Y 1 0.260869565 ENSG00000135226 chr4:69290714-69290714;C/T missense_variant False UGT3A1@p.S15C 1 0.294797688 ENSG00000145626 chr5:35991197-35991197;G/C missense_variant False UGT3A1@p.S43C 1 0.142857143 ENSG00000145626 chr5:35988518-35988518;G/C missense_variant False UGT3A2@p.D193H 1 0.202898551 ENSG00000168671 chr5:36049155-36049155;C/G missense_variant False UGT3A2@p.E156K 1 0.208333333 ENSG00000168671 chr5:36049266-36049266;C/T missense_variant False UGT3A2@p.L497M 1 0.608695652 ENSG00000168671 chr5:36035781-36035781;G/T missense_variant False UGT3A2@p.R234T 1 0.193548387 ENSG00000168671 chr5:36049031-36049031;C/G missense_variant False UGT3A2@p.S29C 1 0.19895288 ENSG00000168671 chr5:36066704-36066704;G/C missense_variant False UGT3A2@p.T465R 1 0.333333333 ENSG00000168671 chr5:36035876-36035876;G/C missense_variant False UGT8@p.A478S 1 0.38028169 ENSG00000174607 chr4:114676094-114676094;G/T missense_variant False UGT8@p.D133Y 1 0.366906475 ENSG00000174607 chr4:114623277-114623277;G/T missense_variant False UGT8@p.E366G 1 0.341836735 ENSG00000174607 chr4:114668139-114668139;A/G missense_variant False UGT8@p.E366K 1 0.144444444 ENSG00000174607 chr4:114668138-114668138;G/A missense_variant False UGT8@p.G144R 1 0.331168831 ENSG00000174607 chr4:114623310-114623310;G/A missense_variant False UGT8@p.K267Q 1 0.408450704 ENSG00000174607 chr4:114623679-114623679;A/C missense_variant False UHMK1@p.E341K 1 0.295081967 ENSG00000152332 chr1:162512820-162512820;G/A missense_variant False UHMK1@p.F19L 1 0.261904762 ENSG00000152332 chr1:162498057-162498057;C/G missense_variant False UHRF1@p.D596G 1 0.09375 ENSG00000276043 chr19:4950965-4950965;A/G missense_variant False UGGT1@p.R1410Q 1 0.428571429 ENSG00000136731 chr2:128182275-128182275;G/A missense_variant False UGGT1@p.M1497I 1 0.099099099 ENSG00000136731 chr2:128187463-128187463;G/A missense_variant False TUBA1B@p.E386Q 1 0.053571429 ENSG00000123416 chr12:49128158-49128158;C/G missense_variant False UBR5@p.R2238T 1 0.066666667 ENSG00000104517 chr8:102275537-102275537;C/G missense_variant False UBR5@p.S1927C 1 0.142857143 ENSG00000104517 chr8:102281436-102281436;G/C missense_variant False UBR5@p.S1735C 1 0.068493151 ENSG00000104517 chr8:102286371-102286371;G/C missense_variant False UBR5@p.S1524L 1 0.354545455 ENSG00000104517 chr8:102293623-102293623;G/A missense_variant False UBR5@p.R2485Q 1 0.561403509 ENSG00000104517 chr8:102265247-102265247;C/T missense_variant False UBR5@p.R23Q 1 0.346153846 ENSG00000104517 chr8:102361621-102361621;C/T missense_variant False UBR5@p.R23G 1 0.073170732 ENSG00000104517 chr8:102361622-102361622;G/C missense_variant False UBR5@p.R1555W 1 0.152173913 ENSG00000104517 chr8:102289503-102289503;G/A missense_variant False UBR5@p.S2751L 1 0.133333333 ENSG00000104517 chr8:102254450-102254450;G/A missense_variant False UBR5@p.Q469K 1 0.274193548 ENSG00000104517 chr8:102327818-102327818;G/T missense_variant False UBR5@p.Q175E 1 0.163090129 ENSG00000104517 chr8:102346956-102346956;G/C missense_variant False UBR5@p.L1050V 1 0.130434783 ENSG00000104517 chr8:102299506-102299506;G/C missense_variant False UBR5@p.K2224I 1 0.198717949 ENSG00000104517 chr8:102275579-102275579;T/A missense_variant False UBR5@p.G231E 1 0.299120235 ENSG00000104517 chr8:102346280-102346280;C/T missense_variant False UBR5@p.E593K 1 0.132352941 ENSG00000104517 chr8:102323318-102323318;C/T missense_variant False UBR5@p.S258F 1 0.339622642 ENSG00000104517 chr8:102345509-102345509;G/A missense_variant False UBR5@p.T1760A 1 0.043478261 ENSG00000104517 chr8:102285719-102285719;T/C missense_variant False UGGT1@p.I654T 1 0.227722772 ENSG00000136731 chr2:128145912-128145912;T/C missense_variant False UBTF@p.E741K 1 0.866666667 ENSG00000108312 chr17:44207316-44207316;C/T missense_variant False UBXN11@p.S436F 1 0.12987013 ENSG00000158062 chr1:26282555-26282555;G/A missense_variant False UBXN11@p.E209K 1 0.242424242 ENSG00000158062 chr1:26285972-26285972;C/T missense_variant False UBTF@p.S40C 1 0.247826087 ENSG00000108312 chr17:44216644-44216644;G/C missense_variant False UBTF@p.M260I 1 0.236111111 ENSG00000108312 chr17:44211998-44211998;C/A missense_variant False UBTF@p.K513T 1 0.412698413 ENSG00000108312 chr17:44210212-44210212;T/G missense_variant False UBTF@p.G601S 1 0.19047619 ENSG00000108312 chr17:44209456-44209456;C/T missense_variant False UBTF@p.E692K 1 0.119047619 ENSG00000108312 chr17:44207549-44207549;C/T missense_variant False UBTD1@p.D82N 1 0.308724832 ENSG00000165886 chr10:97568087-97568087;G/A missense_variant False UBTF@p.E690K 1 0.355555556 ENSG00000108312 chr17:44207555-44207555;C/T missense_variant False UBTF@p.E311A 1 0.179104478 ENSG00000108312 chr17:44211721-44211721;T/G missense_variant False UBTF@p.D697N 1 0.5 ENSG00000108312 chr17:44207534-44207534;C/T missense_variant False UBTF@p.D262N 1 0.425925926 ENSG00000108312 chr17:44211994-44211994;C/T missense_variant False UBTD2@p.L32F 1 0.355263158 ENSG00000168246 chr5:172234333-172234333;C/G missense_variant False UBTD2@p.E69Q 1 0.557142857 ENSG00000168246 chr5:172234224-172234224;C/G missense_variant False UBR5@p.E2743K 1 0.225806452 ENSG00000104517 chr8:102254475-102254475;C/T missense_variant False UBR5@p.E2313Q 1 0.156862745 ENSG00000104517 chr8:102272565-102272565;C/G missense_variant False UBR5@p.E208K 1 0.337931034 ENSG00000104517 chr8:102346350-102346350;C/T missense_variant False UBR4@p.I3571V 1 0.462121212 ENSG00000127481 chr1:19117333-19117333;T/C missense_variant False UBR4@p.N2586K 1 0.135416667 ENSG00000127481 chr1:19146872-19146872;G/T missense_variant False UBR4@p.L1518P 1 0.181818182 ENSG00000127481 chr1:19164400-19164400;A/G missense_variant False UBR4@p.L1278M 1 0.322033898 ENSG00000127481 chr1:19168094-19168094;G/T missense_variant False UBR4@p.K68N 1 0.333333333 ENSG00000127481 chr1:19201788-19201788;C/A missense_variant False UBR4@p.K4033N 1 0.261538462 ENSG00000127481 chr1:19110102-19110102;C/A missense_variant False UBR4@p.I4961M 1 0.65625 ENSG00000127481 chr1:19084629-19084629;G/C missense_variant False UBR4@p.I233M 1 0.608695652 ENSG00000127481 chr1:19197999-19197999;G/C missense_variant False UBR5@p.E118Q 1 0.078947368 ENSG00000104517 chr8:102360105-102360105;C/G missense_variant False UBR4@p.I1751T 1 0.072072072 ENSG00000127481 chr1:19161071-19161071;A/G missense_variant False UBR4@p.F2123L 1 0.205128205 ENSG00000127481 chr1:19155007-19155007;G/T missense_variant False UBR4@p.E704K 1 0.275862069 ENSG00000127481 chr1:19183885-19183885;C/T missense_variant False UBR4@p.E3313K 1 0.406779661 ENSG00000127481 chr1:19121393-19121393;C/T missense_variant False UBR4@p.E2487D 1 0.531914894 ENSG00000127481 chr1:19148596-19148596;T/A missense_variant False UBR4@p.E2476Q 1 0.180952381 ENSG00000127481 chr1:19150581-19150581;C/G missense_variant False UBR4@p.P3661L 1 0.396825397 ENSG00000127481 chr1:19115479-19115479;G/A missense_variant False UBR4@p.Q2506E 1 0.328125 ENSG00000127481 chr1:19148106-19148106;G/C missense_variant False UBR4@p.Q489E 1 0.303030303 ENSG00000127481 chr1:19187470-19187470;G/C missense_variant False UBR4@p.R2240C 1 0.086956522 ENSG00000127481 chr1:19153415-19153415;G/A missense_variant False UBR4@p.R4142W 1 0.466666667 ENSG00000127481 chr1:19105812-19105812;G/A missense_variant False UBR4@p.R450L 1 0.372881356 ENSG00000127481 chr1:19192233-19192233;C/A missense_variant False UBR4@p.S1206C 1 0.666666667 ENSG00000127481 chr1:19170788-19170788;G/C missense_variant False UBR4@p.S3370G 1 0.244755245 ENSG00000127481 chr1:19121222-19121222;T/C missense_variant False UBR4@p.S563F 1 0.414634146 ENSG00000127481 chr1:19186602-19186602;G/A missense_variant False UBR4@p.S61L 1 0.118644068 ENSG00000127481 chr1:19201810-19201810;G/A missense_variant False UBR4@p.T2715P 1 0.322916667 ENSG00000127481 chr1:19144016-19144016;T/G missense_variant False UBR4@p.T4299S 1 0.167883212 ENSG00000127481 chr1:19104089-19104089;G/C missense_variant False UBR4@p.V1792I 1 0.137931034 ENSG00000127481 chr1:19160949-19160949;C/T missense_variant False UBR5@p.D2065N 1 0.0625 ENSG00000104517 chr8:102278921-102278921;C/T missense_variant False UBR5@p.D2493H 1 0.672268908 ENSG00000104517 chr8:102265224-102265224;C/G missense_variant False UBR5@p.D365H 1 0.13368984 ENSG00000104517 chr8:102342478-102342478;C/G missense_variant False UBR5@p.D674G 1 0.281553398 ENSG00000104517 chr8:102312472-102312472;T/C missense_variant False UBXN1@p.E148K 1 0.222222222 ENSG00000162191 chr11:62677967-62677967;C/T missense_variant False UBXN2A@p.E17K 1 0.067164179 ENSG00000173960 chr2:23971283-23971283;G/A missense_variant False UBXN2A@p.E235Q 1 0.240963855 ENSG00000173960 chr2:23999790-23999790;G/C missense_variant False UFC1@p.F132I 1 0.298969072 ENSG00000143222 chr1:161158182-161158182;T/A missense_variant False UFL1@p.Q695K 1 0.528301887 ENSG00000014123 chr6:96552579-96552579;C/A missense_variant False UFL1@p.L727F 1 0.181818182 ENSG00000014123 chr6:96553297-96553297;C/T missense_variant False UFL1@p.E7Q 1 0.375 ENSG00000014123 chr6:96521892-96521892;G/C missense_variant False UFL1@p.E34Q 1 0.183333333 ENSG00000014123 chr6:96523168-96523168;G/C missense_variant False UFD1@p.G295A 1 0.126315789 ENSG00000070010 chr22:19450710-19450710;C/G missense_variant False UFD1@p.F228L 1 0.148275862 ENSG00000070010 chr22:19455763-19455763;G/C missense_variant False UFC1@p.E163D 1 0.461538462 ENSG00000143222 chr1:161158477-161158477;G/T missense_variant False UCN3@p.I83M 1 0.19047619 ENSG00000178473 chr10:5373969-5373969;C/G missense_variant False UEVLD@p.S410F 1 0.087719298 ENSG00000151116 chr11:18534349-18534349;G/A missense_variant False UCP3@p.R244W 1 0.387096774 ENSG00000175564 chr11:74003921-74003921;G/A missense_variant False UCP2@p.R71L 1 0.57 ENSG00000175567 chr11:73978011-73978011;C/A missense_variant False UCP2@p.K104E 1 0.297520661 ENSG00000175567 chr11:73977913-73977913;T/C missense_variant False UCP1@p.Y75Tfs*39 1 0.365269461 ENSG00000109424 chr4:140567882-140567882;G/- frameshift_variant False UCP1@p.V66I 1 0.165217391 ENSG00000109424 chr4:140567908-140567908;C/T missense_variant False UFM1@p.T11S 1 0.125 ENSG00000120686 chr13:38350027-38350027;A/T missense_variant False UFSP2@p.G352_I354del 1 0.081632653 ENSG00000109775 chr4:185407994-185408002;CAATAGATC/- inframe_deletion False UFSP2@p.H238N 1 0.457627119 ENSG00000109775 chr4:185413845-185413845;G/T missense_variant False UFSP2@p.H289D 1 0.066666667 ENSG00000109775 chr4:185408402-185408402;G/C missense_variant False UFSP2@p.S109L 1 0.105263158 ENSG00000109775 chr4:185418448-185418448;G/A missense_variant False UGCG@p.D91N 1 0.208333333 ENSG00000148154 chr9:111922879-111922879;G/A missense_variant False UGCG@p.F238L 1 0.18487395 ENSG00000148154 chr9:111929653-111929653;T/C missense_variant False UGCG@p.L392P 1 0.113475177 ENSG00000148154 chr9:111932987-111932987;T/C missense_variant False UGCG@p.R216K 1 0.444444444 ENSG00000148154 chr9:111929588-111929588;G/A missense_variant False UGDH@p.D308A 1 0.234567901 ENSG00000109814 chr4:39505732-39505732;T/G missense_variant False UGDH@p.D308Y 1 0.231707317 ENSG00000109814 chr4:39505733-39505733;C/A missense_variant False UGDH@p.E138G 1 0.138461538 ENSG00000109814 chr4:39510713-39510713;T/C missense_variant False UGDH@p.S381F 1 0.147887324 ENSG00000109814 chr4:39505266-39505266;G/A missense_variant False UGGT1@p.D1366N 1 0.268656716 ENSG00000136731 chr2:128182142-128182142;G/A missense_variant False UGGT1@p.D871N 1 0.125 ENSG00000136731 chr2:128160508-128160508;G/A missense_variant False UGGT1@p.F1200L 1 0.102739726 ENSG00000136731 chr2:128176874-128176874;C/G missense_variant False UGGT1@p.F665L 1 0.178082192 ENSG00000136731 chr2:128145946-128145946;C/A missense_variant False UCP1@p.T68R 1 0.273584906 ENSG00000109424 chr4:140567901-140567901;G/C missense_variant False UCMA@p.R69T 1 0.425925926 ENSG00000165623 chr10:13233552-13233552;C/G missense_variant False UBXN2A@p.P172L 1 0.260869565 ENSG00000173960 chr2:23984762-23984762;C/T missense_variant False UBXN4@p.R249T 1 0.238095238 ENSG00000144224 chr2:135770659-135770659;G/C missense_variant False UBXN7@p.I294M 1 0.486666667 ENSG00000163960 chr3:196362640-196362640;G/C missense_variant False UBXN7@p.D421H 1 0.428571429 ENSG00000163960 chr3:196361891-196361891;C/G missense_variant False UBXN6@p.E90A 1 0.22 ENSG00000167671 chr19:4453501-4453501;T/G missense_variant False UBXN6@p.E391K 1 0.3046875 ENSG00000167671 chr19:4446078-4446078;C/T missense_variant False UBXN6@p.E368K 1 0.727272727 ENSG00000167671 chr19:4446147-4446147;C/T missense_variant False UBXN6@p.E237K 1 0.425925926 ENSG00000167671 chr19:4446711-4446711;C/T missense_variant False UBXN4@p.P89A 1 0.108910891 ENSG00000144224 chr2:135754209-135754209;C/G missense_variant False UCKL1@p.K176N 1 0.176470588 ENSG00000198276 chr20:63945859-63945859;C/A missense_variant False UBXN4@p.D100H 1 0.107142857 ENSG00000144224 chr2:135754242-135754242;G/C missense_variant False UBXN2B@p.Y120F 1 0.063953488 ENSG00000215114 chr8:58433179-58433179;A/T missense_variant False UBXN2B@p.E38K 1 0.181818182 ENSG00000215114 chr8:58416877-58416877;G/A missense_variant False UBXN2B@p.E204K 1 0.066666667 ENSG00000215114 chr8:58439709-58439709;G/A missense_variant False UBXN2B@p.D252Y 1 0.362637363 ENSG00000215114 chr8:58445989-58445989;G/T missense_variant False UBXN2A@p.S134L 1 0.450704225 ENSG00000173960 chr2:23983009-23983009;C/T missense_variant False UBXN7@p.L148F 1 0.07826087 ENSG00000163960 chr3:196391837-196391837;C/G missense_variant False UBXN7@p.L466V 1 0.102040816 ENSG00000163960 chr3:196356759-196356759;G/C missense_variant False UBXN7@p.Q244R 1 0.240506329 ENSG00000163960 chr3:196368131-196368131;T/C missense_variant False UBXN8@p.K154N 1 0.360655738 ENSG00000104691 chr8:30756821-30756821;G/C missense_variant False UCHL1@p.E174K 1 0.148148148 ENSG00000154277 chr4:41263285-41263285;G/A missense_variant False UCHL1@p.P5R 1 0.320512821 ENSG00000154277 chr4:41256990-41256990;C/G missense_variant False UCHL1@p.Q66H 1 0.275862069 ENSG00000154277 chr4:41260670-41260670;G/C missense_variant False UCHL3@p.G99A 1 0.223684211 ENSG00000118939 chr13:75566807-75566807;G/C missense_variant False UCHL3@p.R136K 1 0.272727273 ENSG00000118939 chr13:75567293-75567293;G/A missense_variant False UCHL3@p.S130I 1 0.253333333 ENSG00000118939 chr13:75567275-75567275;G/T missense_variant False UCHL5@p.E272K 1 0.483333333 ENSG00000116750 chr1:193022958-193022958;C/T missense_variant False UCHL5@p.Q31P 1 0.173913043 ENSG00000116750 chr1:193051802-193051802;T/G missense_variant False UCK1@p.E111Q 1 0.048780488 ENSG00000130717 chr9:131529522-131529522;C/G missense_variant False UCKL1@p.A82T 1 0.451612903 ENSG00000198276 chr20:63946513-63946513;C/T missense_variant False UCKL1@p.D161N 1 0.237745098 ENSG00000198276 chr20:63945906-63945906;C/T missense_variant False UCKL1@p.D514N 1 0.178947368 ENSG00000198276 chr20:63940177-63940177;C/T missense_variant False UCKL1@p.E250K 1 0.189189189 ENSG00000198276 chr20:63944641-63944641;C/T missense_variant False ULBP3@p.R45K 1 0.175 ENSG00000131019 chr6:150066117-150066117;C/T missense_variant False ULK1@p.E869K 1 0.3 ENSG00000177169 chr12:131919305-131919305;G/A missense_variant False ULK1@p.F81L 1 0.109589041 ENSG00000177169 chr12:131895819-131895819;T/C missense_variant False UPK3A@p.H246D 1 0.246753247 ENSG00000100373 chr22:45295591-45295591;C/G missense_variant False UPRT@p.D89N 1 0.888888889 ENSG00000094841 chrX:75274519-75274519;G/A missense_variant False UPRT@p.D33Y 1 0.956521739 ENSG00000094841 chrX:75274351-75274351;G/T missense_variant False UPP2@p.E191V 1 0.265957447 ENSG00000007001 chr2:158121526-158121526;A/T missense_variant False UPP2@p.E191K 1 0.268817204 ENSG00000007001 chr2:158121525-158121525;G/A missense_variant False UPP2@p.C102W 1 0.355932203 ENSG00000007001 chr2:158115226-158115226;T/G missense_variant False UPK3B@p.A121V 1 0.161290323 ENSG00000243566 chr7:76511014-76511014;C/T missense_variant False UPK3A@p.E93K 1 0.365853659 ENSG00000100373 chr22:45287240-45287240;G/A missense_variant False UPRT@p.R142C 1 0.814814815 ENSG00000094841 chrX:75293509-75293509;C/T missense_variant False UPK2@p.N28K 1 0.352272727 ENSG00000110375 chr11:118956890-118956890;C/A missense_variant False UPK1B@p.L88F 1 0.535714286 ENSG00000114638 chr3:119187967-119187967;C/T missense_variant False UPK1A@p.S13F 1 0.280898876 ENSG00000105668 chr19:35666850-35666850;C/T missense_variant False UPK1A@p.A5_A7del 1 0.184931507 ENSG00000105668 chr19:35666822-35666830;GCGGCAGCA/- inframe_deletion False UPF3B@p.Q72E 1 0.529411765 ENSG00000125351 chrX:119851816-119851816;G/C missense_variant False UPF3B@p.G462E 1 0.716216216 ENSG00000125351 chrX:119834945-119834945;C/T missense_variant False UPRT@p.R104Q 1 0.363636364 ENSG00000094841 chrX:75274565-75274565;G/A missense_variant False UQCC1@p.K110T 1 0.415492958 ENSG00000101019 chr20:35381922-35381922;T/G missense_variant False ULK1@p.I135V 1 0.388888889 ENSG00000177169 chr12:131908730-131908730;A/G missense_variant False UQCRC1@p.E292K 1 0.321428571 ENSG00000010256 chr3:48601067-48601067;C/T missense_variant False UQCRFS1@p.S89C 1 0.127659574 ENSG00000169021 chr19:29208107-29208107;G/C missense_variant False UQCRFS1@p.F167L 1 0.285714286 ENSG00000169021 chr19:29207872-29207872;G/C missense_variant False UQCRFS1@p.E161K 1 0.566666667 ENSG00000169021 chr19:29207892-29207892;C/T missense_variant False UQCRC2@p.S342F 1 0.321428571 ENSG00000140740 chr16:21973954-21973954;C/T missense_variant False UQCRC2@p.S333C 1 0.170454545 ENSG00000140740 chr16:21973927-21973927;C/G missense_variant False UQCRC2@p.K23T 1 0.447368421 ENSG00000140740 chr16:21957269-21957269;A/C missense_variant False UQCRC1@p.A36V 1 0.317073171 ENSG00000010256 chr3:48609265-48609265;G/A missense_variant False UQCC1@p.K80E 1 0.265714286 ENSG00000101019 chr20:35382013-35382013;T/C missense_variant False UQCRB@p.E42K 1 0.47826087 ENSG00000156467 chr8:96231908-96231908;C/T missense_variant False UQCR10@p.D37N 1 0.178082192 ENSG00000184076 chr22:29767507-29767507;G/A missense_variant False UQCC3@p.E37K 1 0.256097561 ENSG00000204922 chr11:62671854-62671854;G/A missense_variant False UQCC2@p.R74C 1 0.463190184 ENSG00000137288 chr6:33700507-33700507;G/A missense_variant False UQCC1@p.R232K 1 0.163934426 ENSG00000101019 chr20:35306736-35306736;C/T missense_variant False UQCC1@p.M262I 1 0.17218543 ENSG00000101019 chr20:35304049-35304049;C/A missense_variant False UPF3B@p.E179D 1 0.04845815 ENSG00000125351 chrX:119843234-119843234;C/G missense_variant False UPF3A@p.E463K 1 0.333333333 ENSG00000169062 chr13:114304873-114304873;G/A missense_variant False UPF3A@p.E303Q 1 0.2 ENSG00000169062 chr13:114298900-114298900;G/C missense_variant False UPB1@p.R99C 1 0.371681416 ENSG00000100024 chr22:24502144-24502144;C/T missense_variant False UPF1@p.E415K 1 0.24911032 ENSG00000005007 chr19:18854654-18854654;G/A missense_variant False UPF1@p.E401Q 1 0.041322314 ENSG00000005007 chr19:18854612-18854612;G/C missense_variant False UPF1@p.E372K 1 0.148148148 ENSG00000005007 chr19:18853275-18853275;G/A missense_variant False UPF1@p.E32Q 1 0.476744186 ENSG00000005007 chr19:18832303-18832303;G/C missense_variant False UPF1@p.D351N 1 0.294117647 ENSG00000005007 chr19:18853065-18853065;G/A missense_variant False UPB1@p.S300L 1 0.25 ENSG00000100024 chr22:24522011-24522011;C/T missense_variant False UPB1@p.E137Q 1 0.247191011 ENSG00000100024 chr22:24510793-24510793;G/C missense_variant False UPF3A@p.D132H 1 0.25 ENSG00000169062 chr13:114282916-114282916;G/C missense_variant False UNK@p.R310L 1 0.063583815 ENSG00000132478 chr17:75815221-75815221;G/T missense_variant False UNG@p.Y128H 1 0.371794872 ENSG00000076248 chr12:109099231-109099231;T/C missense_variant False UNCX@p.E164D 1 0.28 ENSG00000164853 chr7:1235873-1235873;G/T missense_variant False UNCX@p.E146K 1 0.352112676 ENSG00000164853 chr7:1233681-1233681;G/A missense_variant False UNCX@p.E136K 1 0.397260274 ENSG00000164853 chr7:1233651-1233651;G/A missense_variant False UNC93B1@p.M239I 1 0.115044248 ENSG00000110057 chr11:67998423-67998423;C/T missense_variant False UPF1@p.G1030R 1 0.18699187 ENSG00000005007 chr19:18865596-18865596;G/A missense_variant False UPF1@p.I342F 1 0.346666667 ENSG00000005007 chr19:18853038-18853038;A/T missense_variant False UPF1@p.L895V 1 0.223826715 ENSG00000005007 chr19:18863487-18863487;C/G missense_variant False UPF1@p.Q972Rfs*8 1 0.375 ENSG00000005007 chr19:18865311-18865311;C/- frameshift_variant False UPF1@p.S217N 1 0.184210526 ENSG00000005007 chr19:18850708-18850708;G/A missense_variant False UPF2@p.D1016N 1 0.238095238 ENSG00000151461 chr10:11948497-11948497;C/T missense_variant False UPF2@p.D15H 1 0.194630872 ENSG00000151461 chr10:12035381-12035381;C/G missense_variant False UPF2@p.D530Y 1 0.212121212 ENSG00000151461 chr10:12001742-12001742;C/A missense_variant False UPF2@p.D965H 1 0.216981132 ENSG00000151461 chr10:11952207-11952207;C/G missense_variant False UPF2@p.D971H 1 0.333333333 ENSG00000151461 chr10:11952189-11952189;C/G missense_variant False UPF2@p.E994K 1 0.101351351 ENSG00000151461 chr10:11952120-11952120;C/T missense_variant False UPF2@p.K1184N 1 0.351351351 ENSG00000151461 chr10:11931777-11931777;C/A missense_variant False UPF2@p.K545N 1 0.0625 ENSG00000151461 chr10:12001695-12001695;C/G missense_variant False UPF2@p.K957R 1 0.519230769 ENSG00000151461 chr10:11952230-11952230;T/C missense_variant False UPF2@p.K986N 1 0.333333333 ENSG00000151461 chr10:11952142-11952142;C/G missense_variant False UPF2@p.L548V 1 0.125 ENSG00000151461 chr10:12001688-12001688;G/C missense_variant False UPF2@p.R854Q 1 0.133333333 ENSG00000151461 chr10:11956333-11956333;C/T missense_variant False UQCRH@p.L3P 1 0.265306122 ENSG00000173660 chr1:46303774-46303774;T/C missense_variant False UQCRQ@p.E66K 1 0.307692308 ENSG00000164405 chr5:132867529-132867529;G/A missense_variant False URB2@p.E162K 1 0.36 ENSG00000135763 chr1:229635097-229635097;G/A missense_variant False USF3@p.Q579H 1 0.054621849 ENSG00000176542 chr3:113659945-113659945;C/G missense_variant False USF3@p.S1669F 1 0.225 ENSG00000176542 chr3:113656676-113656676;G/A missense_variant False USF3@p.S1385L 1 0.194444444 ENSG00000176542 chr3:113657528-113657528;G/A missense_variant False USF3@p.S1086F 1 0.657342657 ENSG00000176542 chr3:113658425-113658425;G/A missense_variant False USF3@p.R1610K 1 0.347826087 ENSG00000176542 chr3:113656853-113656853;C/T missense_variant False USF3@p.R1082T 1 0.558823529 ENSG00000176542 chr3:113658437-113658437;C/G missense_variant False USF3@p.Q588E 1 0.1640625 ENSG00000176542 chr3:113659920-113659920;G/C missense_variant False USF3@p.Q430H 1 0.164948454 ENSG00000176542 chr3:113660392-113660392;C/G missense_variant False USF3@p.E6K 1 0.119341564 ENSG00000176542 chr3:113674863-113674863;C/T missense_variant False USF3@p.P2116A 1 0.257142857 ENSG00000176542 chr3:113655336-113655336;G/C missense_variant False USF3@p.P195L 1 0.166666667 ENSG00000176542 chr3:113661098-113661098;G/A missense_variant False USF3@p.P1796A 1 0.184100418 ENSG00000176542 chr3:113656296-113656296;G/C missense_variant False USF3@p.P1411A 1 0.54 ENSG00000176542 chr3:113657451-113657451;G/C missense_variant False USF3@p.P139S 1 0.038626609 ENSG00000176542 chr3:113661267-113661267;G/A missense_variant False USF3@p.P1308R 1 0.12037037 ENSG00000176542 chr3:113657759-113657759;G/C missense_variant False USF3@p.S1766L 1 0.191489362 ENSG00000176542 chr3:113656385-113656385;G/A missense_variant False USF3@p.S644L 1 0.296551724 ENSG00000176542 chr3:113659751-113659751;G/A missense_variant False USF3@p.S912C 1 0.415254237 ENSG00000176542 chr3:113658947-113658947;G/C missense_variant False USF3@p.S940L 1 0.503816794 ENSG00000176542 chr3:113658863-113658863;G/A missense_variant False USH1C@p.E52K 1 0.188405797 ENSG00000006611 chr11:17531493-17531493;C/T missense_variant False USH1C@p.E96K 1 0.863636364 ENSG00000006611 chr11:17531255-17531255;C/T missense_variant False USH1G@p.E388K 1 0.16 ENSG00000182040 chr17:74919674-74919674;C/T missense_variant False USH1G@p.L69Rfs*26 1 0.141025641 ENSG00000182040 chr17:74920630-74920630;A/- frameshift_variant False USH1G@p.Q203E 1 0.746031746 ENSG00000182040 chr17:74920229-74920229;G/C missense_variant False USH1G@p.R172P 1 0.298507463 ENSG00000182040 chr17:74920321-74920321;C/G missense_variant False USH1G@p.S398C 1 0.123287671 ENSG00000182040 chr17:74919643-74919643;G/C missense_variant False USH2A@p.A1239S 1 0.450704225 ENSG00000042781 chr1:216199723-216199723;C/A missense_variant False USH2A@p.A298T 1 0.433333333 ENSG00000042781 chr1:216325556-216325556;C/T missense_variant False USH2A@p.A4207Pfs*50 1 0.146551724 ENSG00000042781 chr1:215675292-215675292;C/- frameshift_variant False USH2A@p.D2635N 1 0.368421053 ENSG00000042781 chr1:215888746-215888746;C/T missense_variant False USH2A@p.D2738N 1 0.118644068 ENSG00000042781 chr1:215888437-215888437;C/T missense_variant False USH2A@p.D3352N 1 0.042553191 ENSG00000042781 chr1:215790187-215790187;C/T missense_variant False USF3@p.M567I 1 0.220183486 ENSG00000176542 chr3:113659981-113659981;C/T missense_variant False USF3@p.E1147Q 1 0.356589147 ENSG00000176542 chr3:113658243-113658243;C/G missense_variant False URB2@p.E862K 1 0.129411765 ENSG00000135763 chr1:229637197-229637197;G/A missense_variant False URI1@p.R34C 1 0.5 ENSG00000105176 chr19:29942647-29942647;C/T missense_variant False UROC1@p.Q412H 1 0.291666667 ENSG00000159650 chr3:126500064-126500064;C/G missense_variant False UROC1@p.K242E 1 0.136986301 ENSG00000159650 chr3:126505790-126505790;T/C missense_variant False UROC1@p.E63Q 1 0.1 ENSG00000159650 chr3:126510734-126510734;C/G missense_variant False UROC1@p.E395Q 1 0.19047619 ENSG00000159650 chr3:126500117-126500117;C/G missense_variant False UROC1@p.D291H 1 0.175438596 ENSG00000159650 chr3:126504026-126504026;C/G missense_variant False URI1@p.S478C 1 0.107438017 ENSG00000105176 chr19:30014894-30014894;C/G missense_variant False URI1@p.E517K 1 0.139240506 ENSG00000105176 chr19:30015010-30015010;G/A missense_variant False USF3@p.D2124N 1 0.362831858 ENSG00000176542 chr3:113655312-113655312;C/T missense_variant False URGCP@p.R767I 1 0.136986301 ENSG00000106608 chr7:43877163-43877163;C/A missense_variant False URGCP@p.L756F 1 0.456521739 ENSG00000106608 chr7:43877195-43877195;C/G missense_variant False URB2@p.S1103L 1 0.183486239 ENSG00000135763 chr1:229637921-229637921;C/T missense_variant False URB2@p.L1184V 1 0.238461538 ENSG00000135763 chr1:229638163-229638163;C/G missense_variant False URB2@p.L1055F 1 0.707070707 ENSG00000135763 chr1:229637776-229637776;C/T missense_variant False URB2@p.F1029L 1 0.282352941 ENSG00000135763 chr1:229637700-229637700;C/G missense_variant False UROC1@p.S637L 1 0.4 ENSG00000159650 chr3:126482466-126482466;G/A missense_variant False UROC1@p.V627L 1 0.107142857 ENSG00000159650 chr3:126483380-126483380;C/G missense_variant False UROD@p.E115Afs*15 1 0.181818182 ENSG00000126088 chr1:45013659-45013660;AG/- frameshift_variant False UROD@p.P185L 1 0.105263158 ENSG00000126088 chr1:45013988-45013988;C/T missense_variant False UROD@p.R47G 1 0.254237288 ENSG00000126088 chr1:45013141-45013141;A/G missense_variant False UROS@p.C119R 1 0.826086957 ENSG00000188690 chr10:125807452-125807452;A/G missense_variant False UROS@p.D17H 1 0.141666667 ENSG00000188690 chr10:125816451-125816451;C/G missense_variant False UROS@p.D214N 1 0.096774194 ENSG00000188690 chr10:125794900-125794900;C/T missense_variant False UROS@p.N78del 1 0.394366197 ENSG00000188690 chr10:125815042-125815044;TTA/- inframe_deletion False USB1@p.E15K 1 0.25 ENSG00000103005 chr16:58001526-58001526;G/A missense_variant False USB1@p.T199S 1 0.181818182 ENSG00000103005 chr16:58017425-58017425;A/T missense_variant False USE1@p.P92R 1 0.172413793 ENSG00000053501 chr19:17216212-17216212;C/G missense_variant False USE1@p.R100K 1 0.280701754 ENSG00000053501 chr19:17216236-17216236;G/A missense_variant False USF1@p.M163I 1 0.225806452 ENSG00000158773 chr1:161041395-161041395;C/T missense_variant False USF1@p.R201S 1 0.086021505 ENSG00000158773 chr1:161040830-161040830;C/A missense_variant False USF2@p.R245Q 1 0.155251142 ENSG00000105698 chr19:35278704-35278704;G/A missense_variant False USF3@p.A886V 1 0.279069767 ENSG00000176542 chr3:113659025-113659025;G/A missense_variant False UNC93A@p.V428L 1 0.389473684 ENSG00000112494 chr6:167315360-167315360;G/C missense_variant False UNC93A@p.S156L 1 0.278688525 ENSG00000112494 chr6:167296229-167296229;C/T missense_variant False UNC93A@p.E449D 1 0.196969697 ENSG00000112494 chr6:167315425-167315425;G/T missense_variant False UNC13B@p.D871N 1 0.321167883 ENSG00000198722 chr9:35384297-35384297;G/A missense_variant False UNC13B@p.G68E 1 0.212121212 ENSG00000198722 chr9:35236519-35236519;G/A missense_variant False UNC13B@p.E980K 1 0.538461538 ENSG00000198722 chr9:35389936-35389936;G/A missense_variant False UNC13B@p.E909Q 1 0.239316239 ENSG00000198722 chr9:35386171-35386171;G/C missense_variant False UNC13B@p.E495K 1 0.285714286 ENSG00000198722 chr9:35376142-35376142;G/A missense_variant False UNC13B@p.E324Q 1 0.509090909 ENSG00000198722 chr9:35310675-35310675;G/C missense_variant False UNC13B@p.E289K 1 0.077419355 ENSG00000198722 chr9:35310570-35310570;G/A missense_variant False UNC13A@p.V1382I 1 0.157894737 ENSG00000130477 chr19:17624882-17624882;C/T missense_variant False UNC119@p.E42Q 1 0.5 ENSG00000109103 chr17:28552434-28552434;C/G missense_variant False UNC13A@p.P1068L 1 0.222222222 ENSG00000130477 chr19:17636036-17636036;G/A missense_variant False UNC13A@p.L1405F 1 0.289719626 ENSG00000130477 chr19:17621859-17621859;C/G missense_variant False UNC13A@p.I500T 1 0.3125 ENSG00000130477 chr19:17649528-17649528;A/G missense_variant False UNC13A@p.E617K 1 0.342857143 ENSG00000130477 chr19:17647460-17647460;C/T missense_variant False UNC13A@p.D848N 1 0.21978022 ENSG00000130477 chr19:17641487-17641487;C/T missense_variant False UNC13A@p.D1171E 1 0.490909091 ENSG00000130477 chr19:17630666-17630666;G/T missense_variant False UNC13B@p.L1269V 1 0.388888889 ENSG00000198722 chr9:35399012-35399012;C/G missense_variant False UNC13B@p.M1531_V1536del 1 0.540540541 ENSG00000198722 chr9:35403844-35403861;TGTGATGCCTCTGAGGGA/- inframe_deletion False UNC13B@p.R1388C 1 0.403458213 ENSG00000198722 chr9:35400368-35400368;C/T missense_variant False UNC13B@p.R221Q 1 0.391304348 ENSG00000198722 chr9:35295831-35295831;G/A missense_variant False UNC13B@p.S263F 1 0.105960265 ENSG00000198722 chr9:35310493-35310493;C/T missense_variant False UNC13B@p.S930F 1 0.613636364 ENSG00000198722 chr9:35386235-35386235;C/T missense_variant False UNC13C@p.D530N 1 0.191176471 ENSG00000137766 chr15:54014491-54014491;G/A missense_variant False UNC13C@p.D786H 1 0.136363636 ENSG00000137766 chr15:54015259-54015259;G/C missense_variant False UNC13C@p.E1130Q 1 0.319148936 ENSG00000137766 chr15:54250384-54250384;G/C missense_variant False UNC13C@p.E562Q 1 0.75 ENSG00000137766 chr15:54014587-54014587;G/C missense_variant False UNC13C@p.F359Y 1 0.381818182 ENSG00000137766 chr15:54013979-54013979;T/A missense_variant False UNC13C@p.G1132R 1 0.156862745 ENSG00000137766 chr15:54250390-54250390;G/A missense_variant False UNC13C@p.G1390V 1 0.555555556 ENSG00000137766 chr15:54300274-54300274;G/T missense_variant False UNC13C@p.M1762L 1 0.37398374 ENSG00000137766 chr15:54500961-54500961;A/C missense_variant False UNC13C@p.P1536S 1 0.6 ENSG00000137766 chr15:54338382-54338382;C/T missense_variant False UNC13C@p.Q1802R 1 0.666666667 ENSG00000137766 chr15:54511778-54511778;A/G missense_variant False UNC13C@p.R300M 1 0.449438202 ENSG00000137766 chr15:54013802-54013802;G/T missense_variant False UNC119B@p.D103G 1 0.336734694 ENSG00000175970 chr12:120713337-120713337;A/G missense_variant False UMPS@p.S34F 1 0.121212121 ENSG00000114491 chr3:124730572-124730572;C/T missense_variant False UNC13C@p.S349L 1 0.133333333 ENSG00000137766 chr15:54013949-54013949;C/T missense_variant False ULK2@p.R747T 1 0.2375 ENSG00000083290 chr17:19785948-19785948;C/G missense_variant False ULK4@p.E95G 1 0.37254902 ENSG00000168038 chr3:41935895-41935895;T/C missense_variant False ULK4@p.E813Q 1 0.071428571 ENSG00000168038 chr3:41717746-41717746;C/G missense_variant False ULK4@p.E590Kfs*20 1 0.196078431 ENSG00000168038 chr3:41819503-41819503;C/- frameshift_variant False ULK4@p.D201N 1 0.122641509 ENSG00000168038 chr3:41919759-41919759;C/T missense_variant False ULK3@p.L138M 1 0.232142857 ENSG00000140474 chr15:74841462-74841462;G/T missense_variant False ULK2@p.S856C 1 0.244444444 ENSG00000083290 chr17:19781961-19781961;G/C missense_variant False ULK2@p.R408S 1 0.655172414 ENSG00000083290 chr17:19804764-19804764;C/A missense_variant False UMPS@p.L413V 1 0.130081301 ENSG00000114491 chr3:124742230-124742230;C/G missense_variant False ULK2@p.G450A 1 0.465517241 ENSG00000083290 chr17:19801869-19801869;C/G missense_variant False ULK2@p.E865Q 1 0.106557377 ENSG00000083290 chr17:19781935-19781935;C/G missense_variant False ULK1@p.S479L 1 0.363636364 ENSG00000177169 chr12:131915145-131915145;C/T missense_variant False ULK1@p.R770C 1 0.357142857 ENSG00000177169 chr12:131917536-131917536;C/T missense_variant False ULK1@p.R1000H 1 0.166666667 ENSG00000177169 chr12:131921137-131921137;G/A missense_variant False ULK1@p.Q507E 1 0.333333333 ENSG00000177169 chr12:131915228-131915228;C/G missense_variant False ULK4@p.G646E 1 0.379537954 ENSG00000168038 chr3:41800205-41800205;C/T missense_variant False ULK4@p.K15N 1 0.329113924 ENSG00000168038 chr3:41954715-41954715;C/G missense_variant False ULK4@p.L205S 1 0.267175573 ENSG00000168038 chr3:41919746-41919746;A/G missense_variant False ULK4@p.M409L 1 0.22007722 ENSG00000168038 chr3:41900787-41900787;T/A missense_variant False ULK4@p.Q408H 1 0.220930233 ENSG00000168038 chr3:41900788-41900788;C/A missense_variant False ULK4@p.Q545R 1 0.078947368 ENSG00000168038 chr3:41883896-41883896;T/C missense_variant False ULK4@p.S245F 1 0.204545455 ENSG00000168038 chr3:41916046-41916046;G/A missense_variant False ULK4@p.T587I 1 0.459677419 ENSG00000168038 chr3:41835868-41835868;G/A missense_variant False ULK4@p.T889M 1 0.815384615 ENSG00000168038 chr3:41705274-41705274;G/A missense_variant False UMOD@p.C506Y 1 0.172413793 ENSG00000169344 chr16:20341151-20341151;C/T missense_variant False UMOD@p.P510T 1 0.333333333 ENSG00000169344 chr16:20341140-20341140;G/T missense_variant False UMODL1@p.G928E 1 0.3 ENSG00000177398 chr21:42121180-42121180;G/A missense_variant False UMODL1@p.H1263N 1 0.103723404 ENSG00000177398 chr21:42137450-42137450;C/A missense_variant False UMODL1@p.R816Q 1 0.473684211 ENSG00000177398 chr21:42115957-42115957;G/A missense_variant False UMODL1@p.Y803D 1 0.4 ENSG00000177398 chr21:42115917-42115917;T/G missense_variant False UMPS@p.H211Y 1 0.090909091 ENSG00000114491 chr3:124737888-124737888;C/T missense_variant False UMPS@p.L183F 1 0.183673469 ENSG00000114491 chr3:124737804-124737804;C/T missense_variant False UNC13C@p.S1464F 1 0.277777778 ENSG00000137766 chr15:54322061-54322061;C/T missense_variant False UNC13C@p.S582L 1 0.214285714 ENSG00000137766 chr15:54014648-54014648;C/T missense_variant False UNC80@p.E153Q 1 0.435897436 ENSG00000144406 chr2:209777416-209777416;G/C missense_variant False UNC5C@p.S86N 1 0.213114754 ENSG00000182168 chr4:95335499-95335499;C/T missense_variant False UNC5D@p.G553V 1 0.494623656 ENSG00000156687 chr8:35726506-35726506;G/T missense_variant False UNC5D@p.E737Q 1 0.178294574 ENSG00000156687 chr8:35759365-35759365;G/C missense_variant False UNC5D@p.E316V 1 0.322222222 ENSG00000156687 chr8:35686572-35686572;A/T missense_variant False UNC5D@p.C686S 1 0.398058252 ENSG00000156687 chr8:35750702-35750702;T/A missense_variant False UNC5CL@p.R451Gfs*23 1 0.17721519 ENSG00000124602 chr6:41028571-41028579;GGGGCTGCG/CC frameshift_variant False UNC5CL@p.I334M 1 0.473684211 ENSG00000124602 chr6:41032085-41032085;G/C missense_variant False UNC5C@p.S508W 1 0.425 ENSG00000182168 chr4:95219091-95219091;G/C missense_variant False UNC5C@p.D221Y 1 0.296 ENSG00000182168 chr4:95250601-95250601;C/A missense_variant False UNC5C@p.S232C 1 0.381818182 ENSG00000182168 chr4:95250567-95250567;G/C missense_variant False UNC5C@p.S155N 1 0.534653465 ENSG00000182168 chr4:95301632-95301632;C/T missense_variant False UNC5C@p.P195S 1 0.211267606 ENSG00000182168 chr4:95278270-95278270;G/A missense_variant False UNC5C@p.K625N 1 0.23255814 ENSG00000182168 chr4:95206655-95206655;C/G missense_variant False UNC5C@p.G151D 1 0.147727273 ENSG00000182168 chr4:95301644-95301644;C/T missense_variant False UNC5C@p.F169L 1 0.4375 ENSG00000182168 chr4:95278348-95278348;A/G missense_variant False UNC5D@p.N702S 1 0.365482234 ENSG00000156687 chr8:35750751-35750751;A/G missense_variant False UNC5D@p.S803Y 1 0.109090909 ENSG00000156687 chr8:35766996-35766996;C/A missense_variant False UNC79@p.A445D 1 0.25 ENSG00000133958 chr14:93538200-93538200;C/A missense_variant False UNC79@p.D1762H 1 0.291666667 ENSG00000133958 chr14:93622517-93622517;G/C missense_variant False UNC79@p.D486V 1 0.1375 ENSG00000133958 chr14:93540764-93540764;A/T missense_variant False UNC79@p.F2081L 1 0.215116279 ENSG00000133958 chr14:93653784-93653784;C/A missense_variant False UNC79@p.G1505R 1 0.342857143 ENSG00000133958 chr14:93621746-93621746;G/A missense_variant False UNC79@p.H423Y 1 0.14084507 ENSG00000133958 chr14:93538133-93538133;C/T missense_variant False UNC79@p.I1939M 1 0.194915254 ENSG00000133958 chr14:93634621-93634621;C/G missense_variant False UNC79@p.I835L 1 0.080291971 ENSG00000133958 chr14:93580218-93580218;A/T missense_variant False UNC79@p.Q1022E 1 0.060606061 ENSG00000133958 chr14:93593711-93593711;C/G missense_variant False UNC79@p.R2260C 1 0.35106383 ENSG00000133958 chr14:93673375-93673375;C/T missense_variant False UNC79@p.R765W 1 0.173515982 ENSG00000133958 chr14:93577923-93577923;C/T missense_variant False UNC79@p.S1021C 1 0.511111111 ENSG00000133958 chr14:93593709-93593709;C/G missense_variant False UNC79@p.S1693F 1 0.214285714 ENSG00000133958 chr14:93622311-93622311;C/T missense_variant False UNC79@p.S2062C 1 0.228571429 ENSG00000133958 chr14:93646631-93646631;C/G missense_variant False UNC79@p.V385L 1 0.5 ENSG00000133958 chr14:93538019-93538019;G/C missense_variant False UNC5C@p.E125Q 1 0.452380952 ENSG00000182168 chr4:95301723-95301723;C/G missense_variant False UNC5C@p.D108H 1 0.14893617 ENSG00000182168 chr4:95335434-95335434;C/G missense_variant False UNC13C@p.S971T 1 0.3 ENSG00000137766 chr15:54015814-54015814;T/A missense_variant False UNC13D@p.S345F 1 0.846153846 ENSG00000092929 chr17:75839860-75839860;G/A missense_variant False UNC45B@p.E760D 1 0.318181818 ENSG00000141161 chr17:35180577-35180577;G/C missense_variant False UNC45B@p.D153G 1 0.104477612 ENSG00000141161 chr17:35152969-35152969;A/G missense_variant False UNC45A@p.S893L 1 0.292035398 ENSG00000140553 chr15:90953559-90953559;C/T missense_variant False UNC45A@p.R312Q 1 0.309278351 ENSG00000140553 chr15:90942990-90942990;G/A missense_variant False UNC45A@p.Q227E 1 0.132075472 ENSG00000140553 chr15:90940465-90940465;C/G missense_variant False UNC45A@p.L374V 1 0.144578313 ENSG00000140553 chr15:90944984-90944984;C/G missense_variant False UNC13D@p.R234W 1 0.234375 ENSG00000092929 chr17:75840560-75840560;G/A missense_variant False UNC5C@p.C612W 1 0.149606299 ENSG00000182168 chr4:95206694-95206694;G/C missense_variant False UNC13D@p.L223M 1 0.154471545 ENSG00000092929 chr17:75840778-75840778;G/T missense_variant False UNC13D@p.E80K 1 0.271428571 ENSG00000092929 chr17:75843182-75843182;C/T missense_variant False UNC13D@p.D497H 1 0.125 ENSG00000092929 chr17:75836067-75836067;C/G missense_variant False UNC13D@p.D258N 1 0.720930233 ENSG00000092929 chr17:75840311-75840311;C/T missense_variant False UNC13C@p.T58N 1 0.156862745 ENSG00000137766 chr15:54013076-54013076;C/A missense_variant False UNC13C@p.T1875Hfs*15 1 0.6 ENSG00000137766 chr15:54532991-54532991;C/- frameshift_variant False UNC45B@p.E767K 1 0.172043011 ENSG00000141161 chr17:35180596-35180596;G/A missense_variant False UNC45B@p.I644M 1 0.12 ENSG00000141161 chr17:35174337-35174337;C/G missense_variant False UNC45B@p.R376H 1 0.443609023 ENSG00000141161 chr17:35164142-35164142;G/A missense_variant False UNC5A@p.D529N 1 0.296296296 ENSG00000113763 chr5:176877653-176877653;G/A missense_variant False UNC5A@p.E477K 1 0.341463415 ENSG00000113763 chr5:176877242-176877242;G/A missense_variant False UNC5A@p.E734Q 1 0.308510638 ENSG00000113763 chr5:176879325-176879325;G/C missense_variant False UNC5A@p.R472L 1 0.911764706 ENSG00000113763 chr5:176877228-176877228;G/T missense_variant False UNC5B@p.I242S 1 0.159292035 ENSG00000107731 chr10:71286861-71286861;T/G missense_variant False UNC5B@p.K638N 1 0.415730337 ENSG00000107731 chr10:71293546-71293546;G/C missense_variant False UNC5B@p.L730V 1 0.35 ENSG00000107731 chr10:71295823-71295823;C/G missense_variant False UNC5B@p.P512S 1 0.418918919 ENSG00000107731 chr10:71291671-71291671;C/T missense_variant False UNC5B@p.R213P 1 0.459770115 ENSG00000107731 chr10:71286774-71286774;G/C missense_variant False UNC5B@p.R813W 1 0.443298969 ENSG00000107731 chr10:71296689-71296689;C/T missense_variant False UNC5B@p.S113L 1 0.487804878 ENSG00000107731 chr10:71284753-71284753;C/T missense_variant False UNC5B@p.S312L 1 0.118644068 ENSG00000107731 chr10:71288601-71288601;C/T missense_variant False UNC5B@p.S594L 1 0.24137931 ENSG00000107731 chr10:71293413-71293413;C/T missense_variant False UNC5C@p.A431T 1 0.2 ENSG00000182168 chr4:95219994-95219994;C/T missense_variant False UBR4@p.E2169Q 1 0.162790698 ENSG00000127481 chr1:19153893-19153893;C/G missense_variant False UBR4@p.E1417Q 1 0.285714286 ENSG00000127481 chr1:19165312-19165312;C/G missense_variant False UBR4@p.E1183K 1 0.49 ENSG00000127481 chr1:19170858-19170858;C/T missense_variant False TXLNG@p.E444G 1 0.12244898 ENSG00000086712 chrX:16841510-16841510;A/G missense_variant False TXNDC11@p.K345T 1 0.696428571 ENSG00000153066 chr16:11698279-11698279;T/G missense_variant False TXNDC11@p.K309N 1 0.618556701 ENSG00000153066 chr16:11700512-11700512;T/A missense_variant False TXNDC11@p.E977Q 1 0.237288136 ENSG00000153066 chr16:11679224-11679224;C/G missense_variant False TXNDC11@p.E389K 1 0.153846154 ENSG00000153066 chr16:11698148-11698148;C/T missense_variant False TXN2@p.Q21E 1 0.232142857 ENSG00000100348 chr22:36480777-36480777;G/C missense_variant False TXN2@p.K102N 1 0.120879121 ENSG00000100348 chr22:36476814-36476814;C/G missense_variant False TXLNG@p.E395K 1 0.125 ENSG00000086712 chrX:16839851-16839851;G/A missense_variant False TXNDC11@p.R832T 1 0.127659574 ENSG00000153066 chr16:11679658-11679658;C/G missense_variant False TXLNG@p.A204V 1 0.354166667 ENSG00000086712 chrX:16828206-16828206;C/T missense_variant False TXLNB@p.K167R 1 0.145454545 ENSG00000164440 chr6:139276846-139276846;T/C missense_variant False TXLNB@p.E660K 1 0.535353535 ENSG00000164440 chr6:139242603-139242603;C/T missense_variant False TXLNB@p.E479Q 1 0.165137615 ENSG00000164440 chr6:139243146-139243146;C/G missense_variant False TXLNB@p.E465K 1 0.133333333 ENSG00000164440 chr6:139243188-139243188;C/T missense_variant False TXLNB@p.E266Q 1 0.240963855 ENSG00000164440 chr6:139262665-139262665;C/G missense_variant False TXNDC11@p.L932R 1 0.493506494 ENSG00000153066 chr16:11679358-11679358;A/C missense_variant False TXNDC11@p.S828F 1 0.30952381 ENSG00000153066 chr16:11679670-11679670;G/A missense_variant False U2AF2@p.Q353E 1 0.431818182 ENSG00000063244 chr19:55669456-55669456;C/G missense_variant False TXNDC16@p.I168V 1 0.117647059 ENSG00000087301 chr14:52519184-52519184;T/C missense_variant False TXNDC2@p.L49F 1 0.157894737 ENSG00000168454 chr18:9886624-9886624;C/T missense_variant False TXNDC2@p.E546K 1 0.34375 ENSG00000168454 chr18:9888115-9888115;G/A missense_variant False TXNDC16@p.R802T 1 0.333333333 ENSG00000087301 chr14:52432377-52432377;C/G missense_variant False TXNDC16@p.Q655H 1 0.526315789 ENSG00000087301 chr14:52440602-52440602;C/G missense_variant False TXNDC16@p.P577S 1 0.492307692 ENSG00000087301 chr14:52455437-52455437;G/A missense_variant False TXNDC16@p.I430V 1 0.18 ENSG00000087301 chr14:52482254-52482254;T/C missense_variant False TXNDC16@p.H730D 1 0.169491525 ENSG00000087301 chr14:52439210-52439210;G/C missense_variant False TXNDC12@p.K138R 1 0.537634409 ENSG00000117862 chr1:52023517-52023517;T/C missense_variant False TXNDC16@p.F162L 1 0.358024691 ENSG00000087301 chr14:52519200-52519200;G/C missense_variant False TXNDC16@p.D98H 1 0.333333333 ENSG00000087301 chr14:52537624-52537624;C/G missense_variant False TXNDC16@p.D409G 1 0.36 ENSG00000087301 chr14:52482848-52482848;T/C missense_variant False TXNDC16@p.D121A 1 0.289473684 ENSG00000087301 chr14:52536749-52536749;T/G missense_variant False TXNDC15@p.R7Q 1 0.387096774 ENSG00000113621 chr5:134874447-134874447;G/A missense_variant False TXNDC15@p.A49_P51del 1 0.142857143 ENSG00000113621 chr5:134887733-134887741;CCTGCTCAC/- inframe_deletion False TXLNA@p.L179F 1 0.283687943 ENSG00000084652 chr1:32184556-32184556;G/C missense_variant False TXLNA@p.E540K 1 0.153846154 ENSG00000084652 chr1:32195172-32195172;G/A missense_variant False TXLNA@p.E502K 1 0.46 ENSG00000084652 chr1:32195058-32195058;G/A missense_variant False TUT7@p.P550Q 1 0.256410256 ENSG00000083223 chr9:86325474-86325474;G/T missense_variant False TVP23B@p.R109T 1 0.32 ENSG00000171928 chr17:18797664-18797664;G/C missense_variant False TVP23B@p.D17A 1 0.446601942 ENSG00000171928 chr17:18789390-18789390;A/C missense_variant False TVP23A@p.E120K 1 0.095890411 ENSG00000166676 chr16:10773408-10773408;C/T missense_variant False TUT7@p.T625P 1 0.11627907 ENSG00000083223 chr9:86323877-86323877;T/G missense_variant False TUT7@p.S341L 1 0.241935484 ENSG00000083223 chr9:86343139-86343139;G/A missense_variant False TUT7@p.R226T 1 0.176923077 ENSG00000083223 chr9:86346324-86346324;C/G missense_variant False TUT7@p.P182T 1 0.388888889 ENSG00000083223 chr9:86346457-86346457;G/T missense_variant False TXK@p.L163V 1 0.12987013 ENSG00000074966 chr4:48104915-48104915;G/C missense_variant False TUT7@p.K533E 1 0.487394958 ENSG00000083223 chr9:86328351-86328351;T/C missense_variant False TUT7@p.K301R 1 0.21686747 ENSG00000083223 chr9:86345072-86345072;T/C missense_variant False TUT7@p.K1441N 1 0.282608696 ENSG00000083223 chr9:86301373-86301373;C/G missense_variant False TUT7@p.G972C 1 0.271186441 ENSG00000083223 chr9:86322439-86322439;C/A missense_variant False TUT7@p.G814A 1 0.322580645 ENSG00000083223 chr9:86323309-86323309;C/G missense_variant False TUT7@p.E710Q 1 0.763157895 ENSG00000083223 chr9:86323622-86323622;C/G missense_variant False TWF1@p.K98E 1 0.117021277 ENSG00000151239 chr12:43800521-43800521;T/C missense_variant False TWF1@p.R293I 1 0.480519481 ENSG00000151239 chr12:43796980-43796980;C/A missense_variant False TWF1@p.Y68H 1 0.133333333 ENSG00000151239 chr12:43802366-43802366;A/G missense_variant False TWF2@p.S89L 1 0.092783505 ENSG00000247596 chr3:52231960-52231960;G/A missense_variant False TWNK@p.E479Q 1 0.237288136 ENSG00000107815 chr10:100989835-100989835;G/C missense_variant False TWNK@p.F331L 1 0.168674699 ENSG00000107815 chr10:100989203-100989203;C/G missense_variant False TWNK@p.G575A 1 0.137931034 ENSG00000107815 chr10:100991000-100991000;G/C missense_variant False TWNK@p.R6Q 1 0.282352941 ENSG00000107815 chr10:100988227-100988227;G/A missense_variant False TWNK@p.S528F 1 0.144578313 ENSG00000107815 chr10:100990534-100990534;C/T missense_variant False TWSG1@p.D34Y 1 0.227848101 ENSG00000128791 chr18:9337329-9337329;G/T missense_variant False TWSG1@p.Q146H 1 0.240963855 ENSG00000128791 chr18:9396494-9396494;G/C missense_variant False TXK@p.D267Y 1 0.313432836 ENSG00000074966 chr4:48086623-48086623;C/A missense_variant False TXK@p.D408G 1 0.351851852 ENSG00000074966 chr4:48076417-48076417;T/C missense_variant False TXK@p.E217K 1 0.316455696 ENSG00000074966 chr4:48094137-48094137;C/T missense_variant False TXK@p.E481K 1 0.463414634 ENSG00000074966 chr4:48071591-48071591;C/T missense_variant False TXK@p.G463V 1 0.423076923 ENSG00000074966 chr4:48071644-48071644;C/A missense_variant False TXK@p.H323L 1 0.225 ENSG00000074966 chr4:48080117-48080117;T/A missense_variant False TXNDC2@p.S429C 1 0.328358209 ENSG00000168454 chr18:9887765-9887765;C/G missense_variant False TXNDC2@p.T72K 1 0.15 ENSG00000168454 chr18:9886694-9886694;C/A missense_variant False TXNDC5@p.E362K 1 0.205479452 ENSG00000239264 chr6:7884451-7884451;C/T missense_variant False TYRO3@p.R478W 1 0.148648649 ENSG00000092445 chr15:41570289-41570289;C/T missense_variant False TYRP1@p.F208I 1 0.072463768 ENSG00000107165 chr9:12695751-12695751;T/A missense_variant False TYRP1@p.D308V 1 0.175675676 ENSG00000107165 chr9:12702280-12702280;A/T missense_variant False TYRO3@p.V601I 1 0.315789474 ENSG00000092445 chr15:41572490-41572490;G/A missense_variant False TYRO3@p.V275A 1 0.291666667 ENSG00000092445 chr15:41567400-41567400;T/C missense_variant False TYRO3@p.S648F 1 0.540229885 ENSG00000092445 chr15:41573069-41573069;C/T missense_variant False TYRO3@p.R485G 1 0.463768116 ENSG00000092445 chr15:41570310-41570310;C/G missense_variant False TYRO3@p.Q316E 1 0.076923077 ENSG00000092445 chr15:41567522-41567522;C/G missense_variant False TYR@p.P293L 1 0.291044776 ENSG00000077498 chr11:89191260-89191260;C/T missense_variant False TYRO3@p.L208I 1 0.057971014 ENSG00000092445 chr15:41564225-41564225;C/A missense_variant False TYRO3@p.E756K 1 0.449438202 ENSG00000092445 chr15:41573799-41573799;G/A missense_variant False TYR@p.T88I 1 0.191489362 ENSG00000077498 chr11:89178216-89178216;C/T missense_variant False TYR@p.T144I 1 0.206060606 ENSG00000077498 chr11:89178384-89178384;C/T missense_variant False TYR@p.S360N 1 0.086614173 ENSG00000077498 chr11:89227865-89227865;G/A missense_variant False TYR@p.R434T 1 0.252873563 ENSG00000077498 chr11:89284889-89284889;G/C missense_variant False TYRP1@p.N304H 1 0.405405405 ENSG00000107165 chr9:12698652-12698652;A/C missense_variant False TYSND1@p.R556W 1 0.112781955 ENSG00000156521 chr10:70139959-70139959;G/A missense_variant False TYSND1@p.S454L 1 0.214285714 ENSG00000156521 chr10:70142790-70142790;G/A missense_variant False TYW1@p.D73N 1 0.156626506 ENSG00000198874 chr7:66998898-66998898;G/A missense_variant False TYW1@p.G88E 1 0.313253012 ENSG00000198874 chr7:66998944-66998944;G/A missense_variant False TYW1@p.I42M 1 0.244186047 ENSG00000198874 chr7:66998186-66998186;C/G missense_variant False TYW1@p.S16L 1 0.159090909 ENSG00000198874 chr7:66998107-66998107;C/T missense_variant False TYW3@p.D41N 1 0.434782609 ENSG00000162623 chr1:74733365-74733365;G/A missense_variant False TYW3@p.D95N 1 0.346153846 ENSG00000162623 chr1:74738717-74738717;G/A missense_variant False TYW3@p.I250M 1 0.09009009 ENSG00000162623 chr1:74764083-74764083;C/G missense_variant False TYW3@p.R40Q 1 0.368421053 ENSG00000162623 chr1:74733363-74733363;G/A missense_variant False TYW5@p.F137L 1 0.111111111 ENSG00000162971 chr2:199939008-199939008;G/C missense_variant False TYW5@p.S212C 1 0.203703704 ENSG00000162971 chr2:199935987-199935987;G/C missense_variant False U2AF1L4@p.E206Q 1 0.394557823 ENSG00000161265 chr19:35742766-35742766;C/G missense_variant False U2AF1L4@p.E98D 1 0.169960474 ENSG00000161265 chr19:35744377-35744377;C/G missense_variant False U2AF2@p.G176W 1 0.179104478 ENSG00000063244 chr19:55662541-55662541;G/T missense_variant False U2AF2@p.H470Y 1 0.317073171 ENSG00000063244 chr19:55674048-55674048;C/T missense_variant False TYR@p.P38L 1 0.47706422 ENSG00000077498 chr11:89178066-89178066;C/T missense_variant False TYR@p.G302E 1 0.284916201 ENSG00000077498 chr11:89191287-89191287;G/A missense_variant False TXNDC5@p.H91Y 1 0.535087719 ENSG00000239264 chr6:7904716-7904716;G/A missense_variant False TXNIP@p.G94R 1 0.224137931 ENSG00000265972 chr1:145995447-145995447;C/T missense_variant False TXNIP@p.S113F 1 0.27027027 ENSG00000265972 chr1:145995277-145995277;G/A missense_variant False TXNIP@p.R305K 1 0.168539326 ENSG00000265972 chr1:145994355-145994355;C/T missense_variant False TXNIP@p.R207L 1 0.320610687 ENSG00000265972 chr1:145994755-145994755;C/A missense_variant False TXNIP@p.R186K 1 0.413669065 ENSG00000265972 chr1:145994946-145994946;C/T missense_variant False TXNIP@p.K167Ffs*63 1 0.167883212 ENSG00000265972 chr1:145995001-145995004;CTTT/- frameshift_variant False TXNIP@p.K140N 1 0.455782313 ENSG00000265972 chr1:145995195-145995195;C/G missense_variant False TXNIP@p.G59E 1 0.375 ENSG00000265972 chr1:145996091-145996091;C/T missense_variant False TYR@p.E130K 1 0.387323944 ENSG00000077498 chr11:89178341-89178341;G/A missense_variant False TXNIP@p.G176V 1 0.092198582 ENSG00000265972 chr1:145994976-145994976;C/A missense_variant False TXNIP@p.E37K 1 0.458333333 ENSG00000265972 chr1:145996158-145996158;C/T missense_variant False TXNIP@p.E34Gfs*4 1 0.2 ENSG00000265972 chr1:145996168-145996169;-/A frameshift_variant False TXNIP@p.E194K 1 0.121546961 ENSG00000265972 chr1:145994795-145994795;C/T missense_variant False TXNDC9@p.D108H 1 0.095744681 ENSG00000115514 chr2:99322196-99322196;C/G missense_variant False TXNDC5@p.I210M 1 0.333333333 ENSG00000239264 chr6:7891723-7891723;G/C missense_variant False TXNL1@p.E115Q 1 0.18 ENSG00000091164 chr18:56624314-56624314;C/G missense_variant False TXNL1@p.I88M 1 0.443661972 ENSG00000091164 chr18:56624393-56624393;A/C missense_variant False TXNL4B@p.L115F 1 0.238095238 ENSG00000140830 chr16:72086742-72086742;C/G missense_variant False TXNRD1@p.E537K 1 0.242424242 ENSG00000198431 chr12:104331600-104331600;G/A missense_variant False TXNRD1@p.I395M 1 0.230769231 ENSG00000198431 chr12:104321286-104321286;C/G missense_variant False TXNRD1@p.P198R 1 0.333333333 ENSG00000198431 chr12:104313300-104313300;C/G missense_variant False TXNRD1@p.S511F 1 0.454545455 ENSG00000198431 chr12:104327661-104327661;C/T missense_variant False TXNRD2@p.G514V 1 0.65 ENSG00000184470 chr22:19877139-19877139;C/A missense_variant False TYK2@p.C536F 1 0.236842105 ENSG00000105397 chr19:10362326-10362326;C/A missense_variant False TYK2@p.D135H 1 0.236842105 ENSG00000105397 chr19:10368117-10368117;C/G missense_variant False TYK2@p.F241L 1 0.466666667 ENSG00000105397 chr19:10365805-10365805;G/T missense_variant False TYK2@p.R425C 1 0.212962963 ENSG00000105397 chr19:10364708-10364708;G/A missense_variant False TYK2@p.S1082P 1 0.248322148 ENSG00000105397 chr19:10352508-10352508;A/G missense_variant False TYK2@p.V393Sfs*13 1 0.164383562 ENSG00000105397 chr19:10364883-10364883;C/- frameshift_variant False TYMP@p.I54M 1 0.302631579 ENSG00000025708 chr22:50529548-50529548;G/C missense_variant False TYMS@p.E286Q 1 0.222222222 ENSG00000176890 chr18:672911-672911;G/C missense_variant False TYMS@p.E299K 1 0.25203252 ENSG00000176890 chr18:672950-672950;G/A missense_variant False TUT7@p.E1390Q 1 0.465753425 ENSG00000083223 chr9:86301528-86301528;C/G missense_variant False TUT7@p.E1390K 1 0.11965812 ENSG00000083223 chr9:86301528-86301528;C/T missense_variant False TUT7@p.E1082K 1 0.184210526 ENSG00000083223 chr9:86317249-86317249;C/T missense_variant False TUBB8@p.E405K 1 0.128205128 ENSG00000261456 chr10:47179-47179;C/T missense_variant False TUBD1@p.E444V 1 0.142857143 ENSG00000108423 chr17:59860353-59860353;T/A missense_variant False TUBB@p.S48F 1 0.122807018 ENSG00000196230 chr6:30722622-30722622;C/T missense_variant False TUBB@p.R276H 1 0.102803738 ENSG00000196230 chr6:30723889-30723889;G/A missense_variant False TUBB@p.P80S 1 0.113043478 ENSG00000196230 chr6:30722989-30722989;C/T missense_variant False TUBB@p.E194Q 1 0.150943396 ENSG00000196230 chr6:30723642-30723642;G/C missense_variant False TUBB@p.D26N 1 0.20754717 ENSG00000196230 chr6:30722555-30722555;G/A missense_variant False TUBB6@p.T107R 1 0.798561151 ENSG00000176014 chr18:12325109-12325109;C/G missense_variant False TUBB4B@p.F378L 1 0.299703264 ENSG00000188229 chr9:137243352-137243352;C/G missense_variant False TUBB6@p.G360S 1 0.142361111 ENSG00000176014 chr18:12325867-12325867;G/A missense_variant False TUBB6@p.E45K 1 0.171717172 ENSG00000176014 chr18:12308762-12308762;G/A missense_variant False TUBB6@p.E198K 1 0.414096916 ENSG00000176014 chr18:12325381-12325381;G/A missense_variant False TUBB6@p.D417N 1 0.044715447 ENSG00000176014 chr18:12326038-12326038;G/A missense_variant False TUBB6@p.A231Dfs*20 1 0.371134021 ENSG00000176014 chr18:12325477-12325478;-/CCGA frameshift_variant False TUBB4B@p.R359Q 1 0.236220472 ENSG00000188229 chr9:137243294-137243294;G/A missense_variant False TUBD1@p.G151E 1 0.063636364 ENSG00000108423 chr17:59880979-59880979;C/T missense_variant False TUBD1@p.K211E 1 0.227272727 ENSG00000108423 chr17:59878241-59878241;T/C missense_variant False TUBD1@p.M260L 1 0.75257732 ENSG00000108423 chr17:59874695-59874695;T/A missense_variant False TUBE1@p.D320H 1 0.186666667 ENSG00000074935 chr6:112072894-112072894;C/G missense_variant False TUBG1@p.E20Q 1 0.333333333 ENSG00000131462 chr17:42610116-42610116;G/C missense_variant False TUBG1@p.E389K 1 0.20212766 ENSG00000131462 chr17:42614850-42614850;G/A missense_variant False TUBG1@p.Q221K 1 0.208333333 ENSG00000131462 chr17:42613701-42613701;C/A missense_variant False TUBG1@p.V136L 1 0.178899083 ENSG00000131462 chr17:42612433-42612433;G/C missense_variant False TUBG2@p.G99E 1 0.439393939 ENSG00000037042 chr17:42660282-42660282;G/A missense_variant False TUBG2@p.R244H 1 0.318518519 ENSG00000037042 chr17:42665715-42665715;G/A missense_variant False TUBG2@p.S259L 1 0.19266055 ENSG00000037042 chr17:42665760-42665760;C/T missense_variant False TUBG2@p.S369L 1 0.305882353 ENSG00000037042 chr17:42666432-42666432;C/T missense_variant False TUBGCP2@p.I516M 1 0.1 ENSG00000130640 chr10:133288303-133288303;G/C missense_variant False TUBGCP2@p.P204T 1 0.515151515 ENSG00000130640 chr10:133297958-133297958;G/T missense_variant False TUBGCP2@p.R244L 1 0.375 ENSG00000130640 chr10:133293655-133293655;C/A missense_variant False TUBGCP2@p.S281F 1 0.204545455 ENSG00000130640 chr10:133293221-133293221;G/A missense_variant False TUBGCP2@p.S45C 1 0.483870968 ENSG00000130640 chr10:133302808-133302808;G/C missense_variant False TUBB4B@p.Q94H 1 0.276923077 ENSG00000188229 chr9:137242500-137242500;G/C missense_variant False TUBB4A@p.E53K 1 0.152542373 ENSG00000104833 chr19:6501524-6501524;C/T missense_variant False TUBGCP3@p.D373G 1 0.285714286 ENSG00000126216 chr13:112547670-112547670;T/C missense_variant False TUBA3D@p.D205N 1 0.072727273 ENSG00000075886 chr2:131480306-131480306;G/A missense_variant False TUBA3E@p.E207Q 1 0.272727273 ENSG00000152086 chr2:130194223-130194223;C/G missense_variant False TUBA3E@p.D205N 1 0.119565217 ENSG00000152086 chr2:130194229-130194229;C/T missense_variant False TUBA3D@p.I110M 1 0.098765432 ENSG00000075886 chr2:131479411-131479411;C/G missense_variant False TUBA3D@p.E448K 1 0.31884058 ENSG00000075886 chr2:131482837-131482837;G/A missense_variant False TUBA3D@p.E27G 1 0.353293413 ENSG00000075886 chr2:131478240-131478240;A/G missense_variant False TUBA3D@p.E207Q 1 0.175 ENSG00000075886 chr2:131480312-131480312;G/C missense_variant False TUBA3C@p.S379R 1 0.244444444 ENSG00000198033 chr13:19174079-19174079;G/C missense_variant False TUBB4A@p.D41N 1 0.777777778 ENSG00000104833 chr19:6501560-6501560;C/T missense_variant False TUBA3C@p.R390C 1 0.198237885 ENSG00000198033 chr13:19174048-19174048;G/A missense_variant False TUBA3C@p.P274S 1 0.226923077 ENSG00000198033 chr13:19177163-19177163;G/A missense_variant False TUBA3C@p.I219M 1 0.106508876 ENSG00000198033 chr13:19177326-19177326;G/C missense_variant False TUBA3C@p.A403T 1 0.2 ENSG00000198033 chr13:19174009-19174009;C/T missense_variant False TUBA1C@p.P364T 1 0.609756098 ENSG00000167553 chr12:49272967-49272967;C/A missense_variant False TUBA1C@p.G59V 1 0.530434783 ENSG00000167553 chr12:49269637-49269637;G/T missense_variant False TUBA3E@p.G95R 1 0.084033613 ENSG00000152086 chr2:130195171-130195171;C/T missense_variant False TUBA3E@p.I110M 1 0.470588235 ENSG00000152086 chr2:130195124-130195124;G/C missense_variant False TUBA3E@p.P360S 1 0.176470588 ENSG00000152086 chr2:130192106-130192106;G/A missense_variant False TUBA4A@p.E443K 1 0.064220183 ENSG00000127824 chr2:219250372-219250372;C/T missense_variant False TUBA4A@p.S277C 1 0.315789474 ENSG00000127824 chr2:219250869-219250869;G/C missense_variant False TUBAL3@p.F60L 1 0.156626506 ENSG00000178462 chr10:5400911-5400911;G/C missense_variant False TUBB1@p.D31N 1 0.549618321 ENSG00000101162 chr20:59022878-59022878;G/A missense_variant False TUBB2A@p.D203N 1 0.338108883 ENSG00000137267 chr6:3154594-3154594;C/T missense_variant False TUBB2A@p.E444K 1 0.193277311 ENSG00000137267 chr6:3153871-3153871;C/T missense_variant False TUBB2A@p.F378L 1 0.165289256 ENSG00000137267 chr6:3154067-3154067;G/C missense_variant False TUBB2A@p.K103N 1 0.333333333 ENSG00000137267 chr6:3154892-3154892;C/G missense_variant False TUBB2A@p.L65P 1 0.21875 ENSG00000137267 chr6:3155708-3155708;A/G missense_variant False TUBB2A@p.M233I 1 0.314285714 ENSG00000137267 chr6:3154502-3154502;C/T missense_variant False TUBB2B@p.M147R 1 0.188679245 ENSG00000137285 chr6:3225649-3225649;A/C missense_variant False TUBB2B@p.S75L 1 0.433962264 ENSG00000137285 chr6:3226212-3226212;G/A missense_variant False TUBB2B@p.T143M 1 0.178571429 ENSG00000137285 chr6:3225661-3225661;G/A missense_variant False TUBB4A@p.A254G 1 0.135338346 ENSG00000104833 chr19:6495738-6495738;G/C missense_variant False TUBGCP3@p.C325Vfs*24 1 0.426229508 ENSG00000126216 chr13:112548170-112548170;A/- frameshift_variant False TUBGCP3@p.S473L 1 0.063829787 ENSG00000126216 chr13:112527402-112527402;G/A missense_variant False TUT7@p.A78T 1 0.090909091 ENSG00000083223 chr9:86352968-86352968;C/T missense_variant False TULP4@p.R1344Q 1 0.147540984 ENSG00000130338 chr6:158503694-158503694;G/A missense_variant False TUT1@p.D840N 1 0.376623377 ENSG00000149016 chr11:62575201-62575201;C/T missense_variant False TULP4@p.S747C 1 0.162251656 ENSG00000130338 chr6:158501903-158501903;C/G missense_variant False TULP4@p.S129G 1 0.076142132 ENSG00000130338 chr6:158429739-158429739;A/G missense_variant False TULP4@p.R475W 1 0.179487179 ENSG00000130338 chr6:158481226-158481226;C/T missense_variant False TULP4@p.R475Q 1 0.696969697 ENSG00000130338 chr6:158481227-158481227;G/A missense_variant False TULP4@p.R1379K 1 0.5 ENSG00000130338 chr6:158503799-158503799;G/A missense_variant False TULP4@p.Q1387H 1 0.310344828 ENSG00000130338 chr6:158503824-158503824;G/C missense_variant False TULP4@p.E1101Q 1 0.402173913 ENSG00000130338 chr6:158502964-158502964;G/C missense_variant False TULP4@p.Q1039E 1 0.272727273 ENSG00000130338 chr6:158502778-158502778;C/G missense_variant False TULP4@p.P635L 1 0.407407407 ENSG00000130338 chr6:158498702-158498702;C/T missense_variant False TULP4@p.L865F 1 0.205128205 ENSG00000130338 chr6:158502258-158502258;G/C missense_variant False TULP4@p.G104E 1 0.307692308 ENSG00000130338 chr6:158413123-158413123;G/A missense_variant False TULP4@p.F326L 1 0.155172414 ENSG00000130338 chr6:158461681-158461681;C/A missense_variant False TULP4@p.E899K 1 0.402985075 ENSG00000130338 chr6:158502358-158502358;G/A missense_variant False TUT1@p.E328K 1 0.410714286 ENSG00000149016 chr11:62578739-62578739;C/T missense_variant False TUT1@p.L594F 1 0.304347826 ENSG00000149016 chr11:62575939-62575939;G/A missense_variant False TUT1@p.P353R 1 0.087719298 ENSG00000149016 chr11:62578663-62578663;G/C missense_variant False TUT1@p.S6L 1 0.25 ENSG00000149016 chr11:62591469-62591469;G/A missense_variant False TUT4@p.D1158H 1 0.339805825 ENSG00000134744 chr1:52446631-52446631;C/G missense_variant False TUT4@p.D170N 1 0.258278146 ENSG00000134744 chr1:52525773-52525773;C/T missense_variant False TUT4@p.D370N 1 0.15 ENSG00000134744 chr1:52497075-52497075;C/T missense_variant False TUT4@p.D888Y 1 0.397435897 ENSG00000134744 chr1:52474897-52474897;C/A missense_variant False TUT4@p.E768K 1 0.304635762 ENSG00000134744 chr1:52475257-52475257;C/T missense_variant False TUT4@p.I1140V 1 0.172413793 ENSG00000134744 chr1:52458353-52458353;T/C missense_variant False TUT4@p.L344V 1 0.244897959 ENSG00000134744 chr1:52497153-52497153;G/C missense_variant False TUT4@p.Q816L 1 0.150684932 ENSG00000134744 chr1:52475112-52475112;T/A missense_variant False TUT4@p.R1296H 1 0.13368984 ENSG00000134744 chr1:52438271-52438271;C/T missense_variant False TUT4@p.S131L 1 0.248322148 ENSG00000134744 chr1:52525889-52525889;G/A missense_variant False TUT4@p.S187F 1 0.169230769 ENSG00000134744 chr1:52525721-52525721;G/A missense_variant False TUT4@p.S873Y 1 0.127906977 ENSG00000134744 chr1:52474941-52474941;G/T missense_variant False TUT4@p.V455D 1 0.169811321 ENSG00000134744 chr1:52490756-52490756;A/T missense_variant False TULP4@p.E1476K 1 0.333333333 ENSG00000130338 chr6:158504089-158504089;G/A missense_variant False TULP4@p.D146N 1 0.571428571 ENSG00000130338 chr6:158429790-158429790;G/A missense_variant False TUBGCP3@p.S489L 1 0.150943396 ENSG00000126216 chr13:112527031-112527031;G/A missense_variant False TUBGCP6@p.E1541Q 1 0.079365079 ENSG00000128159 chr22:50219073-50219073;C/G missense_variant False TUFM@p.R334Q 1 0.438596491 ENSG00000178952 chr16:28844023-28844023;C/T missense_variant False TUFM@p.D129H 1 0.100671141 ENSG00000178952 chr16:28845343-28845343;C/G missense_variant False TUBGCP6@p.V1472L 1 0.352941176 ENSG00000128159 chr22:50219358-50219358;C/G missense_variant False TUBGCP6@p.S272F 1 0.466666667 ENSG00000128159 chr22:50240294-50240294;G/A missense_variant False TUBGCP6@p.R130Q 1 0.408163265 ENSG00000128159 chr22:50244071-50244071;C/T missense_variant False TUBGCP6@p.R1049Q 1 0.818181818 ENSG00000128159 chr22:50221213-50221213;C/T missense_variant False TUBGCP6@p.E1429Q 1 0.074074074 ENSG00000128159 chr22:50219674-50219674;C/G missense_variant False TULP3@p.R127S 1 0.070588235 ENSG00000078246 chr12:2922387-2922387;C/A missense_variant False TUBGCP6@p.A1409Gfs*67 1 0.363636364 ENSG00000128159 chr22:50219733-50219734;-/CC frameshift_variant False TUBGCP5@p.E217K 1 0.321428571 ENSG00000275835 chr15:23027280-23027280;C/T missense_variant False TUBGCP5@p.D773H 1 0.285714286 ENSG00000275835 chr15:23008709-23008709;C/G missense_variant False TUBGCP5@p.D713Rfs*25 1 0.127272727 ENSG00000275835 chr15:23009952-23009953;-/T frameshift_variant False TUBGCP5@p.D643H 1 0.084745763 ENSG00000275835 chr15:23011161-23011161;C/G missense_variant False TUBGCP4@p.E245Q 1 0.153846154 ENSG00000137822 chr15:43385800-43385800;G/C missense_variant False TUFM@p.R339Q 1 0.243243243 ENSG00000178952 chr16:28844008-28844008;C/T missense_variant False TUFT1@p.D193N 1 0.296703297 ENSG00000143367 chr1:151569753-151569753;G/A missense_variant False TUFT1@p.K174N 1 0.132183908 ENSG00000143367 chr1:151569698-151569698;G/C missense_variant False TUFT1@p.R188L 1 0.305084746 ENSG00000143367 chr1:151569739-151569739;G/T missense_variant False TUFT1@p.S131C 1 0.105263158 ENSG00000143367 chr1:151564592-151564592;C/G missense_variant False TULP1@p.A160V 1 0.123595506 ENSG00000112041 chr6:35510881-35510881;G/A missense_variant False TULP1@p.E137Q 1 0.36 ENSG00000112041 chr6:35510951-35510951;C/G missense_variant False TULP1@p.R390C 1 0.333333333 ENSG00000112041 chr6:35503793-35503793;G/A missense_variant False TULP1@p.R400W 1 0.75862069 ENSG00000112041 chr6:35503763-35503763;G/A missense_variant False TULP2@p.E206K 1 0.323404255 ENSG00000104804 chr19:48889530-48889530;C/T missense_variant False TULP2@p.R325K 1 0.287671233 ENSG00000104804 chr19:48885535-48885535;C/T missense_variant False TULP2@p.R469W 1 0.165137615 ENSG00000104804 chr19:48882074-48882074;G/A missense_variant False TULP3@p.D179H 1 0.376811594 ENSG00000078246 chr12:2931079-2931079;G/C missense_variant False TULP3@p.D412N 1 0.139534884 ENSG00000078246 chr12:2939349-2939349;G/A missense_variant False TULP3@p.E97K 1 0.193370166 ENSG00000078246 chr12:2922297-2922297;G/A missense_variant False TULP3@p.G327A 1 0.963302752 ENSG00000078246 chr12:2937686-2937686;G/C missense_variant False TULP3@p.N230I 1 0.207792208 ENSG00000078246 chr12:2931233-2931233;A/T missense_variant False U2AF2@p.K413R 1 0.645833333 ENSG00000063244 chr19:55669637-55669637;A/G missense_variant False U2SURP@p.D151H 1 0.324324324 ENSG00000163714 chr3:143016856-143016856;G/C missense_variant False UBR4@p.E1153Q 1 0.289855072 ENSG00000127481 chr1:19172928-19172928;C/G missense_variant False UBE4A@p.Q837H 1 0.271929825 ENSG00000110344 chr11:118386536-118386536;G/C missense_variant False UBE4B@p.L470S 1 0.243902439 ENSG00000130939 chr1:10119583-10119583;T/C missense_variant False UBE4B@p.K1149N 1 0.424581006 ENSG00000130939 chr1:10171251-10171251;G/T missense_variant False UBE4B@p.F686L 1 0.180327869 ENSG00000130939 chr1:10135020-10135020;T/A missense_variant False UBE4A@p.S392F 1 0.796296296 ENSG00000110344 chr11:118374954-118374954;C/T missense_variant False UBE4A@p.S179C 1 0.483050847 ENSG00000110344 chr11:118371641-118371641;C/G missense_variant False UBE4A@p.Q841R 1 0.228346457 ENSG00000110344 chr11:118386547-118386547;A/G missense_variant False UBE4A@p.P941R 1 0.327102804 ENSG00000110344 chr11:118390710-118390710;C/G missense_variant False UBE4B@p.R136Q 1 0.413793103 ENSG00000130939 chr1:10101167-10101167;G/A missense_variant False UBE4A@p.L881F 1 0.21 ENSG00000110344 chr11:118389780-118389780;G/C missense_variant False UBE4A@p.L215F 1 0.420289855 ENSG00000110344 chr11:118372588-118372588;C/T missense_variant False UBE4A@p.I363M 1 0.375 ENSG00000110344 chr11:118373658-118373658;C/G missense_variant False UBE3D@p.S333N 1 0.12745098 ENSG00000118420 chr6:83018985-83018985;C/T missense_variant False UBE3D@p.G76E 1 0.2 ENSG00000118420 chr6:83057873-83057873;C/T missense_variant False UBE3D@p.E7K 1 0.285714286 ENSG00000118420 chr6:83065700-83065700;C/T missense_variant False UBE4B@p.N921D 1 0.12295082 ENSG00000130939 chr1:10151396-10151396;A/G missense_variant False UBE4B@p.S368F 1 0.166666667 ENSG00000130939 chr1:10106490-10106490;C/T missense_variant False U2SURP@p.E526Q 1 0.269565217 ENSG00000163714 chr3:143028612-143028612;G/C missense_variant False UBL4A@p.E83K 1 0.712121212 ENSG00000102178 chrX:154485887-154485887;C/T missense_variant False UBLCP1@p.L276V 1 0.116071429 ENSG00000164332 chr5:159283236-159283236;C/G missense_variant False UBLCP1@p.D253G 1 0.161290323 ENSG00000164332 chr5:159278311-159278311;A/G missense_variant False UBL7@p.S4L 1 0.183823529 ENSG00000138629 chr15:74458857-74458857;G/A missense_variant False UBL4A@p.S65C 1 0.125 ENSG00000102178 chrX:154485940-154485940;G/C missense_variant False UBL4A@p.R137W 1 0.166666667 ENSG00000102178 chrX:154485604-154485604;G/A missense_variant False UBL4A@p.I135M 1 0.283333333 ENSG00000102178 chrX:154485608-154485608;G/C missense_variant False UBL4A@p.D89N 1 0.084745763 ENSG00000102178 chrX:154485869-154485869;C/T missense_variant False UBE4B@p.T980I 1 0.391304348 ENSG00000130939 chr1:10158368-10158368;C/T missense_variant False UBL4A@p.D111Y 1 0.211678832 ENSG00000102178 chrX:154485803-154485803;C/A missense_variant False UBL3@p.S99C 1 0.457831325 ENSG00000122042 chr13:29767623-29767623;G/C missense_variant False UBIAD1@p.P81S 1 0.438356164 ENSG00000120942 chr1:11273772-11273772;C/T missense_variant False UBIAD1@p.K114T 1 0.448979592 ENSG00000120942 chr1:11273872-11273872;A/C missense_variant False UBFD1@p.I298M 1 0.148648649 ENSG00000103353 chr16:23570554-23570554;C/G missense_variant False UBFD1@p.E178K 1 0.127659574 ENSG00000103353 chr16:23559644-23559644;G/A missense_variant False UBE3C@p.R681K 1 0.441717791 ENSG00000009335 chr7:157223293-157223293;G/A missense_variant False UBE3C@p.R550Q 1 0.205128205 ENSG00000009335 chr7:157207775-157207775;G/A missense_variant False UBE3C@p.R414S 1 0.08 ENSG00000009335 chr7:157186932-157186932;G/T missense_variant False UBE2Z@p.S341L 1 0.102564103 ENSG00000159202 chr17:48927091-48927091;C/T missense_variant False UBE3A@p.E459Q 1 0.230769231 ENSG00000114062 chr15:25370808-25370808;C/G missense_variant False UBE3A@p.E431K 1 0.302325581 ENSG00000114062 chr15:25370892-25370892;C/T missense_variant False UBE3A@p.E355K 1 0.127118644 ENSG00000114062 chr15:25371120-25371120;C/T missense_variant False UBE3A@p.E205K 1 0.224489796 ENSG00000114062 chr15:25371570-25371570;C/T missense_variant False UBE3A@p.E192K 1 0.325396825 ENSG00000114062 chr15:25371609-25371609;C/T missense_variant False UBE3A@p.D766G 1 0.222222222 ENSG00000114062 chr15:25354419-25354419;T/C missense_variant False UBE2Z@p.L134F 1 0.033557047 ENSG00000159202 chr17:48912845-48912845;G/C missense_variant False UBE3C@p.M534I 1 0.15625 ENSG00000009335 chr7:157207728-157207728;G/C missense_variant False UBE2V2@p.L134V 1 0.134020619 ENSG00000169139 chr8:48060790-48060790;C/G missense_variant False UBE2U@p.E122D 1 0.256880734 ENSG00000177414 chr1:64214841-64214841;G/C missense_variant False UBE2U@p.D15H 1 0.466666667 ENSG00000177414 chr1:64204093-64204093;G/C missense_variant False UBE2T@p.R84Wfs*22 1 0.115384615 ENSG00000077152 chr1:202333477-202333486;ACAAATCCTT/- frameshift_variant False UBE2T@p.Q67H 1 0.15 ENSG00000077152 chr1:202333534-202333534;C/A missense_variant False UBE2T@p.Q112E 1 0.045918367 ENSG00000077152 chr1:202333287-202333287;G/C missense_variant False UBE3A@p.I682V 1 0.043478261 ENSG00000114062 chr15:25355981-25355981;T/C missense_variant False UBE3A@p.S853L 1 0.266666667 ENSG00000114062 chr15:25339207-25339207;G/A missense_variant False UBE3B@p.F398L 1 0.302325581 ENSG00000151148 chr12:109501446-109501446;C/A missense_variant False UBE3B@p.H682Y 1 0.125 ENSG00000151148 chr12:109516852-109516852;C/T missense_variant False UBE3B@p.L235V 1 0.387096774 ENSG00000151148 chr12:109491117-109491117;C/G missense_variant False UBE3B@p.Q6E 1 0.395348837 ENSG00000151148 chr12:109483567-109483567;C/G missense_variant False UBE3B@p.R981K 1 0.273109244 ENSG00000151148 chr12:109533485-109533485;G/A missense_variant False UBE3B@p.S246L 1 0.255813953 ENSG00000151148 chr12:109497841-109497841;C/T missense_variant False UBE3B@p.S454T 1 0.173913043 ENSG00000151148 chr12:109503100-109503100;T/A missense_variant False UBE3B@p.S798C 1 0.224637681 ENSG00000151148 chr12:109524006-109524006;C/G missense_variant False UBE3B@p.T473A 1 0.232142857 ENSG00000151148 chr12:109503157-109503157;A/G missense_variant False UBE3B@p.V264M 1 0.310810811 ENSG00000151148 chr12:109497894-109497894;G/A missense_variant False UBE3C@p.E1081Q 1 0.444 ENSG00000009335 chr7:157267744-157267744;G/C missense_variant False UBE3C@p.E570Q 1 0.196428571 ENSG00000009335 chr7:157207834-157207834;G/C missense_variant False UBE3C@p.E831Q 1 0.154639175 ENSG00000009335 chr7:157248377-157248377;G/C missense_variant False UBE3C@p.E950K 1 0.105263158 ENSG00000009335 chr7:157254107-157254107;G/A missense_variant False UBE3C@p.F128Sfs*16 1 0.321100917 ENSG00000009335 chr7:157174956-157174959;TGTT/- frameshift_variant False UBLCP1@p.L39F 1 0.234042553 ENSG00000164332 chr5:159269030-159269030;C/T missense_variant False UBLCP1@p.Y205del 1 0.272727273 ENSG00000164332 chr5:159275173-159275175;ATT/- inframe_deletion False UBN1@p.D498H 1 0.864864865 ENSG00000118900 chr16:4870905-4870905;G/C missense_variant False UBR1@p.S1056L 1 0.224264706 ENSG00000159459 chr15:43015730-43015730;G/A missense_variant False UBR2@p.H371Y 1 0.148148148 ENSG00000024048 chr6:42616019-42616019;C/T missense_variant False UBR2@p.G770A 1 0.244444444 ENSG00000024048 chr6:42645490-42645490;G/C missense_variant False UBR2@p.F469L 1 0.255813953 ENSG00000024048 chr6:42632677-42632677;C/G missense_variant False UBR2@p.E802K 1 0.065217391 ENSG00000024048 chr6:42645585-42645585;G/A missense_variant False UBR2@p.E1350K 1 0.09009009 ENSG00000024048 chr6:42670677-42670677;G/A missense_variant False UBR2@p.D1412N 1 0.398148148 ENSG00000024048 chr6:42674176-42674176;G/A missense_variant False UBR1@p.R341T 1 0.098901099 ENSG00000159459 chr15:43059156-43059156;C/G missense_variant False UBQLNL@p.R134T 1 0.236842105 ENSG00000175518 chr11:5516041-5516041;C/G missense_variant False UBR1@p.R225T 1 0.224806202 ENSG00000159459 chr15:43068022-43068022;C/G missense_variant False UBR1@p.R170T 1 0.28 ENSG00000159459 chr15:43074998-43074998;C/G missense_variant False UBR1@p.R1683T 1 0.213592233 ENSG00000159459 chr15:42950322-42950322;C/G missense_variant False UBR1@p.R1510C 1 0.46031746 ENSG00000159459 chr15:42966216-42966216;G/A missense_variant False UBR1@p.L1306F 1 0.260273973 ENSG00000159459 chr15:42988898-42988898;C/G missense_variant False UBR1@p.H1184Y 1 0.237288136 ENSG00000159459 chr15:43002664-43002664;G/A missense_variant False UBR2@p.N1060S 1 0.483870968 ENSG00000024048 chr6:42658761-42658761;A/G missense_variant False UBR2@p.P1604L 1 0.066037736 ENSG00000024048 chr6:42684829-42684829;C/T missense_variant False UBR2@p.R1039K 1 0.23880597 ENSG00000024048 chr6:42658698-42658698;G/A missense_variant False UBR2@p.S1298F 1 0.121621622 ENSG00000024048 chr6:42670103-42670103;C/T missense_variant False UBR2@p.S1383L 1 0.327272727 ENSG00000024048 chr6:42673852-42673852;C/T missense_variant False UBR3@p.E1739Q 1 0.431372549 ENSG00000144357 chr2:170079829-170079829;G/C missense_variant False UBR3@p.S1308L 1 0.256097561 ENSG00000144357 chr2:170001308-170001308;C/T missense_variant False UBR3@p.S1502C 1 0.132352941 ENSG00000144357 chr2:170029397-170029397;C/G missense_variant False UBR4@p.A1421Sfs*7 1 0.101449275 ENSG00000127481 chr1:19165270-19165300;AGAATTTCAAAACTCGGTTACAGAATTTAGC/- frameshift_variant False UBR4@p.A1695S 1 0.314606742 ENSG00000127481 chr1:19161681-19161681;C/A missense_variant False UBR4@p.A3263T 1 0.083333333 ENSG00000127481 chr1:19122862-19122862;C/T missense_variant False UBR4@p.C3883Y 1 0.167832168 ENSG00000127481 chr1:19112677-19112677;C/T missense_variant False UBR4@p.D1562H 1 0.21875 ENSG00000127481 chr1:19164269-19164269;C/G missense_variant False UBR4@p.D2461N 1 0.5 ENSG00000127481 chr1:19150626-19150626;C/T missense_variant False UBR4@p.D3911H 1 0.175438596 ENSG00000127481 chr1:19112594-19112594;C/G missense_variant False UBR4@p.D4655Y 1 0.157303371 ENSG00000127481 chr1:19093461-19093461;C/A missense_variant False UBR4@p.D643H 1 0.136363636 ENSG00000127481 chr1:19185110-19185110;C/G missense_variant False UBR1@p.F549L 1 0.170807453 ENSG00000159459 chr15:43047182-43047182;G/T missense_variant False UBQLNL@p.Q69K 1 0.128205128 ENSG00000175518 chr11:5516237-5516237;G/T missense_variant False UBN1@p.D664N 1 0.282758621 ENSG00000118900 chr16:4874400-4874400;G/A missense_variant False UBN2@p.K1341T 1 0.260273973 ENSG00000157741 chr7:139297814-139297814;A/C missense_variant False UBN2@p.S853C 1 0.310344828 ENSG00000157741 chr7:139283463-139283463;C/G missense_variant False UBN2@p.S1287L 1 0.075 ENSG00000157741 chr7:139293422-139293422;C/T missense_variant False UBN2@p.R247C 1 0.229508197 ENSG00000157741 chr7:139258563-139258563;C/T missense_variant False UBN2@p.Q902E 1 0.105263158 ENSG00000157741 chr7:139283609-139283609;C/G missense_variant False UBN2@p.Q863E 1 0.387387387 ENSG00000157741 chr7:139283492-139283492;C/G missense_variant False UBN2@p.L244V 1 0.420454545 ENSG00000157741 chr7:139258554-139258554;C/G missense_variant False UBN2@p.I809M 1 0.208333333 ENSG00000157741 chr7:139283332-139283332;C/G missense_variant False UBQLN4@p.E194Q 1 0.345679012 ENSG00000160803 chr1:156050452-156050452;C/G missense_variant False UBN2@p.G206A 1 0.275862069 ENSG00000157741 chr7:139252011-139252011;G/C missense_variant False UBN2@p.E211K 1 0.3125 ENSG00000157741 chr7:139252025-139252025;G/A missense_variant False UBN1@p.R577Q 1 0.188679245 ENSG00000118900 chr16:4872907-4872907;G/A missense_variant False UBN1@p.Q1115H 1 0.162303665 ENSG00000118900 chr16:4877464-4877464;G/C missense_variant False UBN1@p.E756D 1 0.228915663 ENSG00000118900 chr16:4874678-4874678;G/C missense_variant False UBN1@p.E500del 1 0.103896104 ENSG00000118900 chr16:4870908-4870910;GAA/- inframe_deletion False UBN2@p.S965C 1 0.090909091 ENSG00000157741 chr7:139283799-139283799;C/G missense_variant False UBOX5@p.E515K 1 0.075907591 ENSG00000185019 chr20:3110189-3110189;C/T missense_variant False UBP1@p.D123N 1 0.233009709 ENSG00000153560 chr3:33412803-33412803;C/T missense_variant False UBP1@p.D80N 1 0.486486486 ENSG00000153560 chr3:33425617-33425617;C/T missense_variant False UBP1@p.E471K 1 0.265306122 ENSG00000153560 chr3:33393434-33393434;C/T missense_variant False UBP1@p.E519D 1 0.151515152 ENSG00000153560 chr3:33392591-33392591;C/G missense_variant False UBP1@p.I232M 1 0.228855721 ENSG00000153560 chr3:33409461-33409461;G/C missense_variant False UBQLN2@p.D314N 1 0.56 ENSG00000188021 chrX:56564813-56564813;G/A missense_variant False UBQLN2@p.D83H 1 0.305555556 ENSG00000188021 chrX:56564120-56564120;G/C missense_variant False UBQLN2@p.I237M 1 0.4 ENSG00000188021 chrX:56564584-56564584;T/G missense_variant False UBQLN2@p.L204P 1 0.471264368 ENSG00000188021 chrX:56564484-56564484;T/C missense_variant False UBQLN2@p.P420A 1 0.666666667 ENSG00000188021 chrX:56565131-56565131;C/G missense_variant False UBQLN2@p.Q170E 1 0.217391304 ENSG00000188021 chrX:56564381-56564381;C/G missense_variant False UBQLN2@p.S112C 1 0.157894737 ENSG00000188021 chrX:56564208-56564208;C/G missense_variant False UBQLN3@p.F278V 1 0.306122449 ENSG00000175520 chr11:5508727-5508727;A/C missense_variant False UBQLN3@p.L140F 1 0.340425532 ENSG00000175520 chr11:5509141-5509141;G/A missense_variant False UBQLN3@p.S585F 1 0.105882353 ENSG00000175520 chr11:5507805-5507805;G/A missense_variant False UBE2T@p.D121Y 1 0.136363636 ENSG00000077152 chr1:202333260-202333260;C/A missense_variant False UBE2S@p.E37K 1 0.587628866 ENSG00000108106 chr19:55406857-55406857;C/T missense_variant False UBE2S@p.A90S 1 0.560606061 ENSG00000108106 chr19:55404362-55404362;C/A missense_variant False UBA6@p.L716V 1 0.105263158 ENSG00000033178 chr4:67631905-67631905;G/C missense_variant False UBA7@p.D398N 1 0.25 ENSG00000182179 chr3:49811022-49811022;C/T missense_variant False UBA7@p.A590P 1 0.094017094 ENSG00000182179 chr3:49810049-49810049;C/G missense_variant False UBA6@p.Y523C 1 0.2 ENSG00000033178 chr4:67639111-67639111;T/C missense_variant False UBA6@p.Y443N 1 0.316455696 ENSG00000033178 chr4:67646006-67646006;A/T missense_variant False UBA6@p.S743C 1 0.259259259 ENSG00000033178 chr4:67631738-67631738;G/C missense_variant False UBA6@p.S411Y 1 0.362903226 ENSG00000033178 chr4:67649084-67649084;G/T missense_variant False UBA6@p.I517V 1 0.130177515 ENSG00000033178 chr4:67641156-67641156;T/C missense_variant False UBA52@p.S57L 1 0.417721519 ENSG00000221983 chr19:18573728-18573728;C/T missense_variant False UBA6@p.E850Q 1 0.144329897 ENSG00000033178 chr4:67625158-67625158;C/G missense_variant False UBA6@p.D562N 1 0.260869565 ENSG00000033178 chr4:67638995-67638995;C/T missense_variant False UBA6@p.D275N 1 0.241935484 ENSG00000033178 chr4:67665263-67665263;C/T missense_variant False UBA6@p.D201N 1 0.234693878 ENSG00000033178 chr4:67670538-67670538;C/T missense_variant False UBA6@p.A837T 1 0.276595745 ENSG00000033178 chr4:67626369-67626369;C/T missense_variant False UBA5@p.N356I 1 0.24137931 ENSG00000081307 chr3:132675859-132675859;A/T missense_variant False UBA7@p.D593Y 1 0.32 ENSG00000182179 chr3:49810040-49810040;C/A missense_variant False UBA7@p.E618_F623del 1 0.304761905 ENSG00000182179 chr3:49809850-49809867;GAAGAGTTCTTCAAACTC/- inframe_deletion False UBA7@p.S188F 1 0.113207547 ENSG00000182179 chr3:49812539-49812539;G/A missense_variant False UBAC1@p.E268K 1 0.851851852 ENSG00000130560 chr9:135945102-135945102;C/T missense_variant False UBAP1@p.D99N 1 0.269230769 ENSG00000165006 chr9:34241320-34241320;G/A missense_variant False UBAP1@p.E80K 1 0.2 ENSG00000165006 chr9:34241263-34241263;G/A missense_variant False UBAP1@p.T188A 1 0.306122449 ENSG00000165006 chr9:34241587-34241587;A/G missense_variant False UBAP2@p.A775V 1 0.417777778 ENSG00000137073 chr9:33927844-33927844;G/A missense_variant False UBAP2@p.D47H 1 0.141666667 ENSG00000137073 chr9:33998825-33998825;C/G missense_variant False UBAP2@p.E70K 1 0.192982456 ENSG00000137073 chr9:33996303-33996303;C/T missense_variant False UBAP2@p.M613V 1 0.102941176 ENSG00000137073 chr9:33941741-33941741;T/C missense_variant False UBAP2@p.Q653H 1 0.760869565 ENSG00000137073 chr9:33935849-33935849;C/G missense_variant False UBAP2@p.R14W 1 0.132231405 ENSG00000137073 chr9:34017109-34017109;G/A missense_variant False UBAP2@p.R177H 1 0.175925926 ENSG00000137073 chr9:33973228-33973228;C/T missense_variant False UBAP2L@p.A876S 1 0.310344828 ENSG00000143569 chr1:154260939-154260939;G/T missense_variant False UBAP2L@p.D283N 1 0.453333333 ENSG00000143569 chr1:154246208-154246208;G/A missense_variant False UBAP2L@p.E437D 1 0.101265823 ENSG00000143569 chr1:154251138-154251138;G/C missense_variant False UBA5@p.E348K 1 0.196078431 ENSG00000081307 chr3:132675834-132675834;G/A missense_variant False UBA52@p.M94I 1 0.322580645 ENSG00000221983 chr19:18574961-18574961;G/A missense_variant False UBAP2L@p.P464S 1 0.121621622 ENSG00000143569 chr1:154251217-154251217;C/T missense_variant False UACA@p.E48Q 1 0.2125 ENSG00000137831 chr15:70699597-70699597;C/G missense_variant False UACA@p.Q1077H 1 0.112903226 ENSG00000137831 chr15:70667453-70667453;C/G missense_variant False UACA@p.N673K 1 0.388888889 ENSG00000137831 chr15:70668665-70668665;A/C missense_variant False UACA@p.L1106I 1 0.515463918 ENSG00000137831 chr15:70667368-70667368;G/T missense_variant False UACA@p.H113Y 1 0.22972973 ENSG00000137831 chr15:70691328-70691328;G/A missense_variant False UACA@p.E905K 1 0.272727273 ENSG00000137831 chr15:70667971-70667971;C/T missense_variant False UACA@p.E800K 1 0.533333333 ENSG00000137831 chr15:70668286-70668286;C/T missense_variant False UACA@p.E308D 1 0.31372549 ENSG00000137831 chr15:70678174-70678174;C/G missense_variant False UBA3@p.P229T 1 0.534246575 ENSG00000144744 chr3:69062990-69062990;G/T missense_variant False UACA@p.E1087K 1 0.514285714 ENSG00000137831 chr15:70667425-70667425;C/T missense_variant False UACA@p.D1399H 1 0.176470588 ENSG00000137831 chr15:70657112-70657112;C/G missense_variant False UACA@p.C183Vfs*4 1 0.166666667 ENSG00000137831 chr15:70687596-70687596;T/- frameshift_variant False U2SURP@p.Q10E 1 0.222222222 ENSG00000163714 chr3:143001656-143001656;C/G missense_variant False U2SURP@p.L290M 1 0.2125 ENSG00000163714 chr3:143022512-143022512;C/A missense_variant False U2SURP@p.K1026T 1 0.390243902 ENSG00000163714 chr3:143056437-143056437;A/C missense_variant False UACA@p.Q696H 1 0.319148936 ENSG00000137831 chr15:70668596-70668596;C/G missense_variant False UACA@p.R69I 1 0.068181818 ENSG00000137831 chr15:70699533-70699533;C/A missense_variant False UACA@p.S1163F 1 0.109756098 ENSG00000137831 chr15:70667196-70667196;G/A missense_variant False UACA@p.S1163T 1 0.109756098 ENSG00000137831 chr15:70667197-70667197;A/T missense_variant False UAP1@p.D274H 1 0.256198347 ENSG00000117143 chr1:162581445-162581445;G/C missense_variant False UAP1@p.G155V 1 0.154471545 ENSG00000117143 chr1:162576960-162576960;G/T missense_variant False UAP1@p.H429Y 1 0.114754098 ENSG00000117143 chr1:162590438-162590438;C/T missense_variant False UAP1@p.R320G 1 0.080985915 ENSG00000117143 chr1:162587598-162587598;C/G missense_variant False UAP1L1@p.A232T 1 0.534090909 ENSG00000197355 chr9:137078999-137078999;G/A missense_variant False UAP1L1@p.R424C 1 0.441176471 ENSG00000197355 chr9:137080780-137080780;C/T missense_variant False UBA1@p.E430K 1 0.893617021 ENSG00000130985 chrX:47202997-47202997;G/A missense_variant False UBA2@p.E607Q 1 0.351351351 ENSG00000126261 chr19:34469117-34469117;G/C missense_variant False UBA2@p.L429V 1 0.053191489 ENSG00000126261 chr19:34458808-34458808;C/G missense_variant False UBA3@p.A445V 1 0.6 ENSG00000144744 chr3:69055495-69055495;G/A missense_variant False UBA3@p.D33Y 1 0.451612903 ENSG00000144744 chr3:69077884-69077884;C/A missense_variant False UBA3@p.L63V 1 0.281690141 ENSG00000144744 chr3:69075507-69075507;G/C missense_variant False UBA3@p.M397I 1 0.295454545 ENSG00000144744 chr3:69056057-69056057;C/T missense_variant False UBAP2L@p.I258M 1 0.081911263 ENSG00000143569 chr1:154243234-154243234;C/G missense_variant False UBAP2L@p.S530C 1 0.226086957 ENSG00000143569 chr1:154251578-154251578;C/G missense_variant False UBE2R2@p.S138C 1 0.440860215 ENSG00000107341 chr9:33912014-33912014;C/G missense_variant False UBE2K@p.E167K 1 0.0703125 ENSG00000078140 chr4:39777781-39777781;G/A missense_variant False UBE2N@p.D28N 1 0.418803419 ENSG00000177889 chr12:93411248-93411248;C/T missense_variant False UBE2M@p.E151K 1 0.103896104 ENSG00000130725 chr19:58556190-58556190;C/T missense_variant False UBE2L6@p.P19T 1 0.19047619 ENSG00000156587 chr11:57560405-57560405;G/T missense_variant False UBE2L6@p.E93K 1 0.155844156 ENSG00000156587 chr11:57554470-57554470;C/T missense_variant False UBE2L3@p.E141G 1 0.244444444 ENSG00000185651 chr22:21621626-21621626;A/G missense_variant False UBE2L3@p.D124Y 1 0.25 ENSG00000185651 chr22:21621574-21621574;G/T missense_variant False UBE2J2@p.R224Q 1 0.218543046 ENSG00000160087 chr1:1255312-1255312;C/T missense_variant False UBE2H@p.S169A 1 0.357894737 ENSG00000186591 chr7:129834984-129834984;A/C missense_variant False UBE2J1@p.R256Q 1 0.271186441 ENSG00000198833 chr6:89329869-89329869;C/T missense_variant False UBE2J1@p.M16I 1 0.093023256 ENSG00000198833 chr6:89343740-89343740;C/T missense_variant False UBE2J1@p.F43L 1 0.226415094 ENSG00000198833 chr6:89342432-89342432;G/T missense_variant False UBE2J1@p.F147L 1 0.459016393 ENSG00000198833 chr6:89335419-89335419;G/C missense_variant False UBE2J1@p.D158H 1 0.280487805 ENSG00000198833 chr6:89335388-89335388;C/G missense_variant False UBE2I@p.R149Q 1 0.113636364 ENSG00000103275 chr16:1324762-1324762;G/A missense_variant False UBE2N@p.D44N 1 0.359477124 ENSG00000177889 chr12:93411200-93411200;C/T missense_variant False UBE2N@p.M149I 1 0.347826087 ENSG00000177889 chr12:93410051-93410051;C/T missense_variant False UBE2N@p.P21S 1 0.115789474 ENSG00000177889 chr12:93411269-93411269;G/A missense_variant False UBE2NL@p.K75N 1 0.379746835 ENSG00000276380 chrX:143884325-143884325;A/T missense_variant False UBE2NL@p.N31S 1 0.224489796 ENSG00000276380 chrX:143884192-143884192;A/G missense_variant False UBE2O@p.D1214N 1 0.4375 ENSG00000175931 chr17:76391182-76391182;C/T missense_variant False UBE2O@p.E362K 1 0.380645161 ENSG00000175931 chr17:76400218-76400218;C/T missense_variant False UBE2O@p.P1119A 1 0.071428571 ENSG00000175931 chr17:76391467-76391467;G/C missense_variant False UBE2O@p.R536G 1 0.514851485 ENSG00000175931 chr17:76399471-76399471;G/C missense_variant False UBE2O@p.T1274Gfs*79 1 0.264367816 ENSG00000175931 chr17:76390992-76391002;CGGAACTGCGT/- frameshift_variant False UBE2Q1@p.D219Vfs*12 1 0.108433735 ENSG00000160714 chr1:154553105-154553105;T/- frameshift_variant False UBE2Q1@p.M257I 1 0.177570093 ENSG00000160714 chr1:154552779-154552779;C/T missense_variant False UBE2Q2@p.E266K 1 0.486842105 ENSG00000140367 chr15:75879159-75879159;G/A missense_variant False UBE2Q2@p.G294E 1 0.402985075 ENSG00000140367 chr15:75883421-75883421;G/A missense_variant False UBE2Q2@p.Q190E 1 0.183673469 ENSG00000140367 chr15:75873548-75873548;C/G missense_variant False UBE2R2@p.E16Q 1 0.176470588 ENSG00000107341 chr9:33817803-33817803;G/C missense_variant False UBE2R2@p.K178N 1 0.32 ENSG00000107341 chr9:33917054-33917054;G/C missense_variant False UBE2I@p.K101Nfs*17 1 0.090909091 ENSG00000103275 chr16:1320253-1320266;GGACTGGAGGCCAG/- frameshift_variant False UBE2H@p.P66T 1 0.157534247 ENSG00000186591 chr7:129879577-129879577;G/T missense_variant False UBAP2L@p.S871F 1 0.166666667 ENSG00000143569 chr1:154260925-154260925;C/T missense_variant False UBASH3B@p.E287K 1 0.319088319 ENSG00000154127 chr11:122789187-122789187;G/A missense_variant False UBC@p.D412H 1 0.303448276 ENSG00000150991 chr12:124912538-124912538;C/G missense_variant False UBASH3B@p.S469F 1 0.170212766 ENSG00000154127 chr11:122798990-122798990;C/T missense_variant False UBASH3B@p.S459C 1 0.131578947 ENSG00000154127 chr11:122798959-122798959;A/T missense_variant False UBASH3B@p.R95C 1 0.75 ENSG00000154127 chr11:122777091-122777091;C/T missense_variant False UBASH3B@p.F640L 1 0.2 ENSG00000154127 chr11:122809856-122809856;C/G missense_variant False UBASH3B@p.E519Q 1 0.070469799 ENSG00000154127 chr11:122801292-122801292;G/C missense_variant False UBASH3A@p.W634R 1 0.401360544 ENSG00000160185 chr21:42447108-42447108;T/C missense_variant False UBE2H@p.D163G 1 0.375 ENSG00000186591 chr7:129835001-129835001;T/C missense_variant False UBASH3A@p.R170Q 1 0.134502924 ENSG00000160185 chr21:42413178-42413178;G/A missense_variant False UBASH3A@p.Q122E 1 0.194871795 ENSG00000160185 chr21:42413033-42413033;C/G missense_variant False UBASH3A@p.P80S 1 0.144578313 ENSG00000160185 chr21:42409492-42409492;C/T missense_variant False UBASH3A@p.K396N 1 0.366666667 ENSG00000160185 chr21:42432120-42432120;G/C missense_variant False UBASH3A@p.E250Q 1 0.444444444 ENSG00000160185 chr21:42416522-42416522;G/C missense_variant False UBASH3A@p.D430V 1 0.266666667 ENSG00000160185 chr21:42434850-42434850;A/T missense_variant False UBC@p.D412N 1 0.142857143 ENSG00000150991 chr12:124912538-124912538;C/T missense_variant False UBC@p.E398Q 1 0.412844037 ENSG00000150991 chr12:124912580-124912580;C/G missense_variant False UBC@p.Q649H 1 0.357142857 ENSG00000150991 chr12:124911825-124911825;C/A missense_variant False UBC@p.R650K 1 0.363636364 ENSG00000150991 chr12:124911823-124911823;C/T missense_variant False UBC@p.S209F 1 0.128440367 ENSG00000150991 chr12:124913146-124913146;G/A missense_variant False UBD@p.K122T 1 0.474747475 ENSG00000213886 chr6:29556013-29556013;T/G missense_variant False UBE2A@p.G26R 1 0.956989247 ENSG00000077721 chrX:119574932-119574932;G/A missense_variant False UBE2B@p.D84N 1 0.145454545 ENSG00000119048 chr5:134388333-134388333;G/A missense_variant False UBE2B@p.D84Y 1 0.318181818 ENSG00000119048 chr5:134388333-134388333;G/T missense_variant False UBE2C@p.E38K 1 0.296969697 ENSG00000175063 chr20:45813447-45813447;G/A missense_variant False UBE2D1@p.H55R 1 0.19379845 ENSG00000072401 chr10:58363652-58363652;A/G missense_variant False UBE2D1@p.P57R 1 0.205882353 ENSG00000072401 chr10:58363658-58363658;C/G missense_variant False UBE2D3@p.D87H 1 0.433333333 ENSG00000109332 chr4:102801499-102801499;C/G missense_variant False UBE2D4@p.F62L 1 0.193548387 ENSG00000078967 chr7:43943019-43943019;C/G missense_variant False UBE2E2@p.G21E 1 0.170731707 ENSG00000182247 chr3:23208761-23208761;G/A missense_variant False UBE2E3@p.E33K 1 0.563829787 ENSG00000170035 chr2:180982139-180982139;G/A missense_variant False UBE2F@p.D58A 1 0.268292683 ENSG00000184182 chr2:237994768-237994768;A/C missense_variant False USH2A@p.E1568Q 1 0.5 ENSG00000042781 chr1:216097139-216097139;C/G missense_variant False USH2A@p.E3614Q 1 0.090909091 ENSG00000042781 chr1:215779942-215779942;C/G missense_variant False USH2A@p.E4806K 1 0.451612903 ENSG00000042781 chr1:215648694-215648694;C/T missense_variant False VN1R5@p.I57L 1 0.306569343 ENSG00000197617 chr1:247256240-247256240;A/C missense_variant False VNN2@p.H450Y 1 0.058823529 ENSG00000112303 chr6:132749718-132749718;G/A missense_variant False VNN2@p.E353K 1 0.231578947 ENSG00000112303 chr6:132751288-132751288;C/T missense_variant False VNN1@p.T472I 1 0.533333333 ENSG00000112299 chr6:132683267-132683267;G/A missense_variant False VNN1@p.L242S 1 0.606741573 ENSG00000112299 chr6:132693125-132693125;A/G missense_variant False VNN1@p.G349A 1 0.265625 ENSG00000112299 chr6:132692365-132692365;C/G missense_variant False VN1R5@p.S58L 1 0.073333333 ENSG00000197617 chr1:247256244-247256244;C/T missense_variant False VN1R5@p.G224E 1 0.091503268 ENSG00000197617 chr1:247256742-247256742;G/A missense_variant False VNN3@p.Y263C 1 0.547826087 None chr6:132726762-132726762;T/C missense_variant False VN1R4@p.P223T 1 0.96 ENSG00000228567 chr19:53266999-53266999;G/T missense_variant False VN1R4@p.M286I 1 0.050505051 ENSG00000228567 chr19:53266808-53266808;C/G missense_variant False VN1R2@p.W347C 1 0.267515924 ENSG00000196131 chr19:53259416-53259416;G/T missense_variant False VN1R2@p.S106L 1 0.176470588 ENSG00000196131 chr19:53258692-53258692;C/T missense_variant False VN1R2@p.D371N 1 0.25 ENSG00000196131 chr19:53259486-53259486;G/A missense_variant False VN1R1@p.Q55H 1 0.258064516 ENSG00000178201 chr19:57456322-57456322;C/G missense_variant False VNN2@p.P219T 1 0.282208589 ENSG00000112303 chr6:132752632-132752632;G/T missense_variant False VPREB1@p.Q25E 1 0.303030303 ENSG00000169575 chr22:22244972-22244972;C/G missense_variant False VPS13D@p.R1747Q 1 0.245614035 ENSG00000048707 chr1:12283342-12283342;G/A missense_variant False VPS13B@p.A810V 1 0.178947368 ENSG00000132549 chr8:99192971-99192971;C/T missense_variant False VPS13B@p.E1658Q 1 0.456521739 ENSG00000132549 chr8:99556601-99556601;G/C missense_variant False VPS13B@p.E1147Q 1 0.151515152 ENSG00000132549 chr8:99442629-99442629;G/C missense_variant False VPS13B@p.D3169H 1 0.354166667 ENSG00000132549 chr8:99832468-99832468;G/C missense_variant False VPS13B@p.D2648N 1 0.108374384 ENSG00000132549 chr8:99784402-99784402;G/A missense_variant False VPS13B@p.D1899G 1 0.037974684 ENSG00000132549 chr8:99642211-99642211;A/G missense_variant False VPS13B@p.C2155Y 1 0.111111111 ENSG00000132549 chr8:99699867-99699867;G/A missense_variant False VPS13A@p.R1206G 1 0.536585366 ENSG00000197969 chr9:77295650-77295650;A/G missense_variant False VPS11@p.P51S 1 0.078947368 ENSG00000160695 chr11:119078194-119078194;C/T missense_variant False VPS13A@p.P2365L 1 0.209302326 ENSG00000197969 chr9:77344220-77344220;C/T missense_variant False VPS13A@p.G413E 1 0.2 ENSG00000197969 chr9:77226479-77226479;G/A missense_variant False VPS13A@p.E3115K 1 0.566666667 ENSG00000197969 chr9:77405931-77405931;G/A missense_variant False VPS13A@p.E1092K 1 0.1 ENSG00000197969 chr9:77283585-77283585;G/A missense_variant False VPS13A@p.A1710P 1 0.324324324 ENSG00000197969 chr9:77318406-77318406;G/C missense_variant False VPS11@p.V164M 1 0.64 ENSG00000160695 chr11:119078853-119078853;G/A missense_variant False VN1R1@p.Q105E 1 0.464646465 ENSG00000178201 chr19:57456174-57456174;G/C missense_variant False VMP1@p.R210K 1 0.211864407 ENSG00000062716 chr17:59773800-59773800;G/A missense_variant False VMP1@p.L364S 1 0.346666667 ENSG00000062716 chr17:59839781-59839781;T/C missense_variant False VIT@p.D96H 1 0.454545455 ENSG00000205221 chr2:36754931-36754931;G/C missense_variant False VIT@p.Q365H 1 0.069767442 ENSG00000205221 chr2:36801382-36801382;G/C missense_variant False VIT@p.N592K 1 0.075 ENSG00000205221 chr2:36808903-36808903;C/A missense_variant False VIT@p.L491F 1 0.131578947 ENSG00000205221 chr2:36808600-36808600;G/C missense_variant False VIT@p.I360T 1 0.459770115 ENSG00000205221 chr2:36801366-36801366;T/C missense_variant False VIT@p.G404C 1 0.182481752 ENSG00000205221 chr2:36805530-36805530;G/T missense_variant False VIT@p.E436Q 1 0.463917526 ENSG00000205221 chr2:36805626-36805626;G/C missense_variant False VIT@p.D602N 1 0.404761905 ENSG00000205221 chr2:36808931-36808931;G/A missense_variant False VMP1@p.I64V 1 0.162790698 ENSG00000062716 chr17:59735451-59735451;A/G missense_variant False VIRMA@p.V1075I 1 0.363636364 ENSG00000164944 chr8:94511352-94511352;C/T missense_variant False VIRMA@p.T1070S 1 0.291666667 ENSG00000164944 chr8:94511366-94511366;G/C missense_variant False VIRMA@p.S1809Y 1 0.363636364 ENSG00000164944 chr8:94488719-94488719;G/T missense_variant False VIRMA@p.Q1537E 1 0.086092715 ENSG00000164944 chr8:94494892-94494892;G/C missense_variant False VIRMA@p.P186A 1 0.111111111 ENSG00000164944 chr8:94531014-94531014;G/C missense_variant False VIRMA@p.L1012F 1 0.067114094 ENSG00000164944 chr8:94511541-94511541;G/A missense_variant False VIT@p.R533C 1 0.137614679 ENSG00000205221 chr2:36808724-36808724;C/T missense_variant False VIT@p.S206F 1 0.476190476 ENSG00000205221 chr2:36767223-36767223;C/T missense_variant False VIT@p.S589C 1 0.111111111 ENSG00000205221 chr2:36808893-36808893;C/G missense_variant False VIT@p.V628I 1 0.424242424 ENSG00000205221 chr2:36814206-36814206;G/A missense_variant False VIT@p.W229R 1 0.470588235 ENSG00000205221 chr2:36773796-36773796;T/C missense_variant False VKORC1@p.I136V 1 0.139534884 ENSG00000167397 chr16:31091220-31091220;T/C missense_variant False VKORC1L1@p.E165K 1 0.41025641 ENSG00000196715 chr7:65954262-65954262;G/A missense_variant False VKORC1L1@p.Y157D 1 0.216216216 ENSG00000196715 chr7:65954238-65954238;T/G missense_variant False VLDLR@p.I411M 1 0.892307692 ENSG00000147852 chr9:2645003-2645003;C/G missense_variant False VLDLR@p.R820Q 1 0.111111111 ENSG00000147852 chr9:2652822-2652822;G/A missense_variant False VLDLR@p.S124C 1 0.902953586 ENSG00000147852 chr9:2641422-2641422;C/G missense_variant False VLDLR@p.S560F 1 0.166666667 ENSG00000147852 chr9:2646528-2646528;C/T missense_variant False VLDLR@p.S846Y 1 0.315315315 ENSG00000147852 chr9:2652900-2652900;C/A missense_variant False VLDLR@p.S855C 1 0.454022989 ENSG00000147852 chr9:2652927-2652927;C/G missense_variant False VMO1@p.R126C 1 0.233333333 ENSG00000182853 chr17:4785595-4785595;G/A missense_variant False VMP1@p.E340Q 1 0.107142857 ENSG00000062716 chr17:59838338-59838338;G/C missense_variant False VMP1@p.H350Y 1 0.225806452 ENSG00000062716 chr17:59838368-59838368;C/T missense_variant False VPS13B@p.E3075Q 1 0.128342246 ENSG00000132549 chr8:99821447-99821447;G/C missense_variant False VPS13B@p.E3434K 1 0.428571429 ENSG00000132549 chr8:99853614-99853614;G/A missense_variant False VPS13B@p.E3525K 1 0.188841202 ENSG00000132549 chr8:99853887-99853887;G/A missense_variant False VPS13C@p.S3331C 1 0.137931034 ENSG00000129003 chr15:61880619-61880619;G/C missense_variant False VPS13D@p.E1075Q 1 0.280991736 ENSG00000048707 chr1:12276811-12276811;G/C missense_variant False VPS13D@p.D354H 1 0.108108108 ENSG00000048707 chr1:12258053-12258053;G/C missense_variant False VPS13D@p.D3393V 1 0.328947368 ENSG00000048707 chr1:12362756-12362756;A/T missense_variant False VPS13D@p.D2154N 1 0.296296296 ENSG00000048707 chr1:12308451-12308451;G/A missense_variant False VPS13D@p.D1054N 1 0.109090909 ENSG00000048707 chr1:12276748-12276748;G/A missense_variant False VPS13C@p.V2954L 1 0.347826087 ENSG00000129003 chr15:61909110-61909110;C/G missense_variant False VPS13C@p.S2417C 1 0.2 ENSG00000129003 chr15:61920294-61920294;G/C missense_variant False VPS13C@p.P3679S 1 0.2 ENSG00000129003 chr15:61856327-61856327;G/A missense_variant False VPS13C@p.S2012L 1 0.215053763 ENSG00000129003 chr15:61931093-61931093;G/A missense_variant False VPS13C@p.S1799C 1 0.25 ENSG00000129003 chr15:61941820-61941820;G/C missense_variant False VPS13C@p.S1663C 1 0.202247191 ENSG00000129003 chr15:61945875-61945875;G/C missense_variant False VPS13C@p.R1904T 1 0.126760563 ENSG00000129003 chr15:61936641-61936641;C/G missense_variant False VPS13C@p.R1128Q 1 0.279069767 ENSG00000129003 chr15:61962801-61962801;C/T missense_variant False VPS13C@p.Q3741H 1 0.438848921 ENSG00000129003 chr15:61854496-61854496;C/A missense_variant False VPS13D@p.E1448K 1 0.238095238 ENSG00000048707 chr1:12277930-12277930;G/A missense_variant False VPS13D@p.E1526K 1 0.152777778 ENSG00000048707 chr1:12279624-12279624;G/A missense_variant False VPS13D@p.E2142Q 1 0.732142857 ENSG00000048707 chr1:12304713-12304713;G/C missense_variant False VPS13D@p.E329K 1 0.1375 ENSG00000048707 chr1:12257978-12257978;G/A missense_variant False VPS13D@p.E3761Q 1 0.519230769 ENSG00000048707 chr1:12383066-12383066;G/C missense_variant False VPS13D@p.E3871K 1 0.344594595 ENSG00000048707 chr1:12386311-12386311;G/A missense_variant False VPS13D@p.E3905K 1 0.306122449 ENSG00000048707 chr1:12400259-12400259;G/A missense_variant False VPS13D@p.E4144K 1 0.193548387 ENSG00000048707 chr1:12456094-12456094;G/A missense_variant False VPS13D@p.E49Q 1 0.108695652 ENSG00000048707 chr1:12242560-12242560;G/C missense_variant False VPS13D@p.G1243C 1 0.146226415 ENSG00000048707 chr1:12277315-12277315;G/T missense_variant False VPS13D@p.G1393R 1 0.166666667 ENSG00000048707 chr1:12277765-12277765;G/A missense_variant False VPS13D@p.G62E 1 0.887096774 ENSG00000048707 chr1:12244255-12244255;G/A missense_variant False VPS13D@p.L1725F 1 0.13559322 ENSG00000048707 chr1:12283275-12283275;C/T missense_variant False VPS13D@p.L2737V 1 0.215384615 ENSG00000048707 chr1:12329840-12329840;C/G missense_variant False VPS13D@p.L540V 1 0.338235294 ENSG00000048707 chr1:12266904-12266904;C/G missense_variant False VPS13D@p.N4362H 1 0.236842105 ENSG00000048707 chr1:12508941-12508941;A/C missense_variant False VPS13D@p.P2535T 1 0.112068966 ENSG00000048707 chr1:12321863-12321863;C/A missense_variant False VPS13C@p.Q1704E 1 0.275229358 ENSG00000129003 chr15:61945753-61945753;G/C missense_variant False VPS13C@p.N2845K 1 0.266666667 ENSG00000129003 chr15:61913326-61913326;G/T missense_variant False VPS13B@p.E850K 1 0.321678322 ENSG00000132549 chr8:99274230-99274230;G/A missense_variant False VPS13B@p.P1264A 1 0.222222222 ENSG00000132549 chr8:99481722-99481722;C/G missense_variant False VPS13B@p.R237L 1 0.088785047 ENSG00000132549 chr8:99111227-99111227;G/T missense_variant False VPS13B@p.R1678Q 1 0.3 ENSG00000132549 chr8:99575666-99575666;G/A missense_variant False VPS13B@p.R1243K 1 0.752238806 ENSG00000132549 chr8:99481660-99481660;G/A missense_variant False VPS13B@p.Q720E 1 0.360294118 ENSG00000132549 chr8:99156693-99156693;C/G missense_variant False VPS13B@p.Q3929H 1 0.330097087 ENSG00000132549 chr8:99871664-99871664;G/C missense_variant False VPS13B@p.P8L 1 0.088235294 ENSG00000132549 chr8:99013811-99013811;C/T missense_variant False VPS13B@p.L946P 1 0.034013605 ENSG00000132549 chr8:99384220-99384220;T/C missense_variant False VPS13C@p.L2675F 1 0.239130435 ENSG00000129003 chr15:61917373-61917373;G/A missense_variant False VPS13B@p.L645V 1 0.439393939 ENSG00000132549 chr8:99147930-99147930;C/G missense_variant False VPS13B@p.L3315F 1 0.385416667 ENSG00000132549 chr8:99835666-99835666;G/C missense_variant False VPS13B@p.L2430F 1 0.137931034 ENSG00000132549 chr8:99766938-99766938;G/C missense_variant False VPS13B@p.I1835V 1 0.355932203 ENSG00000132549 chr8:99642018-99642018;A/G missense_variant False VPS13B@p.H3852Y 1 0.223529412 ENSG00000132549 chr8:99870871-99870871;C/T missense_variant False VPS13B@p.G2696A 1 0.162162162 ENSG00000132549 chr8:99809445-99809445;G/C missense_variant False VPS13B@p.R3947T 1 0.47027027 ENSG00000132549 chr8:99875437-99875437;G/C missense_variant False VPS13B@p.R593T 1 0.088235294 ENSG00000132549 chr8:99143100-99143100;G/C missense_variant False VPS13B@p.S1467L 1 0.867816092 ENSG00000132549 chr8:99511204-99511204;C/T missense_variant False VPS13B@p.S3949L 1 0.070454545 ENSG00000132549 chr8:99875443-99875443;C/T missense_variant False VPS13B@p.T1442I 1 0.34 ENSG00000132549 chr8:99511129-99511129;C/T missense_variant False VPS13B@p.W2426C 1 0.058252427 ENSG00000132549 chr8:99766926-99766926;G/C missense_variant False VPS13B@p.Y413C 1 0.190751445 ENSG00000132549 chr8:99134663-99134663;A/G missense_variant False VPS13C@p.A1034T 1 0.358208955 ENSG00000129003 chr15:61964813-61964813;C/T missense_variant False VPS13C@p.A1629G 1 0.2 ENSG00000129003 chr15:61946401-61946401;G/C missense_variant False VPS13C@p.D3376N 1 0.516129032 ENSG00000129003 chr15:61878623-61878623;C/T missense_variant False VPS13C@p.F509L 1 0.174242424 ENSG00000129003 chr15:61991051-61991051;G/T missense_variant False VPS13C@p.H2380Y 1 0.642857143 ENSG00000129003 chr15:61920572-61920572;G/A missense_variant False VPS13C@p.H2691Y 1 0.378378378 ENSG00000129003 chr15:61916007-61916007;G/A missense_variant False VPS13C@p.K2198N 1 0.117647059 ENSG00000129003 chr15:61925471-61925471;T/A missense_variant False VPS13C@p.K3124E 1 0.3 ENSG00000129003 chr15:61884241-61884241;T/C missense_variant False VPS13C@p.K486Rfs*6 1 0.155080214 ENSG00000129003 chr15:61991699-61991699;T/- frameshift_variant False VPS13C@p.L1976F 1 0.113636364 ENSG00000129003 chr15:61931202-61931202;G/A missense_variant False VIRMA@p.G1271V 1 0.071428571 ENSG00000164944 chr8:94509755-94509755;C/A missense_variant False VIRMA@p.E276K 1 0.34375 ENSG00000164944 chr8:94529124-94529124;C/T missense_variant False VIRMA@p.E1597K 1 0.138461538 ENSG00000164944 chr8:94492671-94492671;C/T missense_variant False VCAN@p.P646L 1 0.223880597 ENSG00000038427 chr5:83520243-83520243;C/T missense_variant False VCAN@p.S368C 1 0.312056738 ENSG00000038427 chr5:83519409-83519409;C/G missense_variant False VCAN@p.S2258L 1 0.41509434 ENSG00000038427 chr5:83539776-83539776;C/T missense_variant False VCAN@p.R2303K 1 0.137931034 ENSG00000038427 chr5:83539911-83539911;G/A missense_variant False VCAN@p.R1330I 1 0.283783784 ENSG00000038427 chr5:83522295-83522295;G/T missense_variant False VCAN@p.R1022K 1 0.285714286 ENSG00000038427 chr5:83521371-83521371;G/A missense_variant False VCAN@p.Q169E 1 0.146666667 ENSG00000038427 chr5:83493605-83493605;C/G missense_variant False VCAN@p.P3012L 1 0.322580645 ENSG00000038427 chr5:83542038-83542038;C/T missense_variant False VCAN@p.E2117Q 1 0.402298851 ENSG00000038427 chr5:83539352-83539352;G/C missense_variant False VCAN@p.P2828S 1 0.09375 ENSG00000038427 chr5:83541485-83541485;C/T missense_variant False VCAN@p.M680I 1 0.326923077 ENSG00000038427 chr5:83520346-83520346;G/C missense_variant False VCAN@p.H1946D 1 0.247311828 ENSG00000038427 chr5:83538839-83538839;C/G missense_variant False VCAN@p.G2340A 1 0.438356164 ENSG00000038427 chr5:83540022-83540022;G/C missense_variant False VCAN@p.F513L 1 0.485714286 ENSG00000038427 chr5:83519845-83519845;C/A missense_variant False VCAN@p.E3194K 1 0.4 ENSG00000038427 chr5:83553450-83553450;G/A missense_variant False VCAN@p.T1703A 1 0.078947368 ENSG00000038427 chr5:83538110-83538110;A/G missense_variant False VCAN@p.T1709K 1 0.293103448 ENSG00000038427 chr5:83538129-83538129;C/A missense_variant False VCAN@p.T754R 1 0.134328358 ENSG00000038427 chr5:83520567-83520567;C/G missense_variant False VCAN@p.V466I 1 0.388888889 ENSG00000038427 chr5:83519702-83519702;G/A missense_variant False VCAN@p.Y189C 1 0.266666667 ENSG00000038427 chr5:83493666-83493666;A/G missense_variant False VCAN@p.Y3287D 1 0.194029851 ENSG00000038427 chr5:83572539-83572539;T/G missense_variant False VCL@p.A990S 1 0.8 ENSG00000035403 chr10:74114202-74114202;G/T missense_variant False VCL@p.G687V 1 0.095238095 ENSG00000035403 chr10:74103857-74103857;G/T missense_variant False VCL@p.K386N 1 0.059405941 ENSG00000035403 chr10:74089331-74089331;G/T missense_variant False VCP@p.A439S 1 0.407035176 ENSG00000165280 chr9:35061059-35061059;C/A missense_variant False VCP@p.L429F 1 0.510869565 ENSG00000165280 chr9:35061089-35061089;G/A missense_variant False VCPIP1@p.A855T 1 0.5 ENSG00000175073 chr8:66664396-66664396;C/T missense_variant False VCPIP1@p.D1209N 1 0.258278146 ENSG00000175073 chr8:66634545-66634545;C/T missense_variant False VCPIP1@p.D581H 1 0.556074766 ENSG00000175073 chr8:66665218-66665218;C/G missense_variant False VCPIP1@p.D936N 1 0.183673469 ENSG00000175073 chr8:66635364-66635364;C/T missense_variant False VCPIP1@p.E483Q 1 0.32278481 ENSG00000175073 chr8:66665512-66665512;C/G missense_variant False VCPIP1@p.P593T 1 0.442028986 ENSG00000175073 chr8:66665182-66665182;G/T missense_variant False VCAN@p.E2888Q 1 0.372881356 ENSG00000038427 chr5:83541665-83541665;G/C missense_variant False VCAN@p.E1863K 1 0.523489933 ENSG00000038427 chr5:83538590-83538590;G/A missense_variant False VCPIP1@p.R845K 1 0.24691358 ENSG00000175073 chr8:66664425-66664425;C/T missense_variant False VAV3@p.F129L 1 0.171428571 ENSG00000134215 chr1:107777290-107777290;G/C missense_variant False VAX2@p.P227L 1 0.210526316 ENSG00000116035 chr2:70933011-70933011;C/T missense_variant False VAX2@p.G129D 1 0.229508197 ENSG00000116035 chr2:70921236-70921236;G/A missense_variant False VAX2@p.E166Rfs*38 1 0.25 ENSG00000116035 chr2:70932826-70932826;G/- frameshift_variant False VAX1@p.L137I 1 0.178571429 ENSG00000148704 chr10:117136492-117136492;G/T missense_variant False VAV3@p.L93I 1 0.19047619 ENSG00000134215 chr1:107874945-107874945;G/T missense_variant False VAV3@p.K767N 1 0.357142857 ENSG00000134215 chr1:107596261-107596261;C/G missense_variant False VAV3@p.E84K 1 0.117647059 ENSG00000134215 chr1:107874972-107874972;C/T missense_variant False VCAN@p.E1033V 1 0.266666667 ENSG00000038427 chr5:83521404-83521404;A/T missense_variant False VAV3@p.D507H 1 0.088235294 ENSG00000134215 chr1:107705045-107705045;C/G missense_variant False VAV2@p.S27W 1 0.466666667 ENSG00000160293 chr9:133992199-133992199;G/C missense_variant False VAV2@p.R830Q 1 0.4 ENSG00000160293 chr9:133768542-133768542;C/T missense_variant False VAV2@p.L93P 1 0.405940594 ENSG00000160293 chr9:133939146-133939146;A/G missense_variant False VAV2@p.K468N 1 0.245283019 ENSG00000160293 chr9:133788357-133788357;C/G missense_variant False VAV2@p.F737L 1 0.435028249 ENSG00000160293 chr9:133771971-133771971;G/T missense_variant False VAX2@p.R89W 1 0.536585366 ENSG00000116035 chr2:70921115-70921115;C/T missense_variant False VCAM1@p.C95R 1 0.109589041 ENSG00000162692 chr1:100720694-100720694;T/C missense_variant False VCAM1@p.D329G 1 0.476190476 ENSG00000162692 chr1:100729164-100729164;A/G missense_variant False VCAM1@p.D650N 1 0.166666667 ENSG00000162692 chr1:100734657-100734657;G/A missense_variant False VCAM1@p.E667K 1 0.235294118 ENSG00000162692 chr1:100734708-100734708;G/A missense_variant False VCAM1@p.G642A 1 0.214285714 ENSG00000162692 chr1:100734634-100734634;G/C missense_variant False VCAM1@p.L355V 1 0.121212121 ENSG00000162692 chr1:100729241-100729241;C/G missense_variant False VCAM1@p.L683P 1 0.476190476 ENSG00000162692 chr1:100734757-100734757;T/C missense_variant False VCAM1@p.M458I 1 0.318181818 ENSG00000162692 chr1:100731367-100731367;G/A missense_variant False VCAM1@p.N300Y 1 0.489361702 ENSG00000162692 chr1:100724860-100724860;A/T missense_variant False VCAM1@p.R656Q 1 0.486486486 ENSG00000162692 chr1:100734676-100734676;G/A missense_variant False VCAM1@p.R688T 1 0.180722892 ENSG00000162692 chr1:100738126-100738126;G/C missense_variant False VCAM1@p.S44L 1 0.183006536 ENSG00000162692 chr1:100720542-100720542;C/T missense_variant False VCAM1@p.T469N 1 0.082278481 ENSG00000162692 chr1:100731399-100731399;C/A missense_variant False VCAM1@p.V628I 1 0.294117647 ENSG00000162692 chr1:100734591-100734591;G/A missense_variant False VCAN@p.D1069N 1 0.173913043 ENSG00000038427 chr5:83521511-83521511;G/A missense_variant False VCAN@p.D2797H 1 0.579545455 ENSG00000038427 chr5:83541392-83541392;G/C missense_variant False VCPIP1@p.R752H 1 0.178571429 ENSG00000175073 chr8:66664704-66664704;C/T missense_variant False VCPIP1@p.S185C 1 0.03960396 ENSG00000175073 chr8:66666405-66666405;G/C missense_variant False VIRMA@p.D196H 1 0.117647059 ENSG00000164944 chr8:94530984-94530984;C/G missense_variant False VGLL3@p.L262M 1 0.222222222 ENSG00000206538 chr3:86968743-86968743;G/T missense_variant False VIL1@p.S124F 1 0.429319372 ENSG00000127831 chr2:218427988-218427988;C/T missense_variant False VIL1@p.Q28H 1 0.433333333 ENSG00000127831 chr2:218424285-218424285;G/C missense_variant False VHLL@p.E33G 1 0.064171123 ENSG00000189030 chr1:156299092-156299092;T/C missense_variant False VGLL4@p.N71K 1 0.188034188 ENSG00000144560 chr3:11601874-11601874;G/C missense_variant False VGLL4@p.D239H 1 0.462585034 ENSG00000144560 chr3:11558714-11558714;C/G missense_variant False VGLL3@p.S100L 1 0.52173913 ENSG00000206538 chr3:86978630-86978630;G/A missense_variant False VGF@p.E591K 1 0.156862745 ENSG00000128564 chr7:101163073-101163073;C/T missense_variant False VEZF1@p.M502I 1 0.22972973 ENSG00000136451 chr17:57974533-57974533;C/T missense_variant False VGF@p.E433Q 1 0.166666667 ENSG00000128564 chr7:101163547-101163547;C/G missense_variant False VEZT@p.S155Afs*20 1 0.179577465 ENSG00000028203 chr12:95266383-95266383;T/- frameshift_variant False VEZT@p.R394H 1 0.518072289 ENSG00000028203 chr12:95282497-95282497;G/A missense_variant False VEZT@p.R348Q 1 0.129032258 ENSG00000028203 chr12:95282359-95282359;G/A missense_variant False VEZT@p.E778K 1 0.166666667 ENSG00000028203 chr12:95300665-95300665;G/A missense_variant False VEZT@p.D6H 1 0.172413793 ENSG00000028203 chr12:95217866-95217866;G/C missense_variant False VILL@p.E184K 1 0.118644068 ENSG00000136059 chr3:37997176-37997176;G/A missense_variant False VILL@p.E799K 1 0.206896552 ENSG00000136059 chr3:38006638-38006638;G/A missense_variant False VILL@p.K170N 1 0.052631579 ENSG00000136059 chr3:37997136-37997136;G/C missense_variant False VILL@p.M621I 1 0.333333333 ENSG00000136059 chr3:38004312-38004312;G/A missense_variant False VIM@p.E396Q 1 0.202702703 ENSG00000026025 chr10:17235346-17235346;G/C missense_variant False VIM@p.E407K 1 0.235294118 ENSG00000026025 chr10:17235379-17235379;G/A missense_variant False VIM@p.R217H 1 0.394366197 ENSG00000026025 chr10:17233612-17233612;G/A missense_variant False VIM@p.R378_H379del 1 0.189189189 ENSG00000026025 chr10:17235292-17235297;CGTCAC/- inframe_deletion False VIM@p.R50H 1 0.294117647 ENSG00000026025 chr10:17229571-17229571;G/A missense_variant False VIM@p.S278R 1 0.235294118 ENSG00000026025 chr10:17233883-17233883;T/A missense_variant False VIM@p.S8L 1 0.230769231 ENSG00000026025 chr10:17229445-17229445;C/T missense_variant False VIPAS39@p.G120E 1 0.380165289 ENSG00000151445 chr14:77449737-77449737;C/T missense_variant False VIPAS39@p.T346A 1 0.160305344 ENSG00000151445 chr14:77435270-77435270;T/C missense_variant False VIPR1@p.V375I 1 0.281368821 ENSG00000114812 chr3:42535087-42535087;G/A missense_variant False VIPR2@p.T131K 1 0.321428571 ENSG00000106018 chr7:159058544-159058544;G/T missense_variant False VIRMA@p.C353S 1 0.060344828 ENSG00000164944 chr8:94527186-94527186;C/G missense_variant False VIRMA@p.D1467N 1 0.175438596 ENSG00000164944 chr8:94495876-94495876;C/T missense_variant False VEZF1@p.R425K 1 0.763392857 ENSG00000136451 chr17:57974765-57974765;C/T missense_variant False VEZF1@p.L136V 1 0.326923077 ENSG00000136451 chr17:57983021-57983021;A/C missense_variant False VCPIP1@p.S860F 1 0.056451613 ENSG00000175073 chr8:66664380-66664380;G/A missense_variant False VDAC1@p.S46L 1 0.239669421 ENSG00000213585 chr5:133991135-133991135;G/A missense_variant False VEGFA@p.Q151H 1 0.352517986 ENSG00000112715 chr6:43780762-43780762;A/C missense_variant False VEGFA@p.E56K 1 0.150684932 ENSG00000112715 chr6:43777516-43777516;G/A missense_variant False VDR@p.R296H 1 0.424242424 ENSG00000111424 chr12:47846677-47846677;C/T missense_variant False VDAC2@p.L213F 1 0.073529412 ENSG00000165637 chr10:75222304-75222304;C/T missense_variant False VDAC2@p.D41N 1 0.890804598 ENSG00000165637 chr10:75214041-75214041;G/A missense_variant False VDAC2@p.D197N 1 0.306666667 ENSG00000165637 chr10:75222256-75222256;G/A missense_variant False VDAC1@p.S104L 1 0.164835165 ENSG00000213585 chr5:133990867-133990867;G/A missense_variant False VEZF1@p.E68Rfs*14 1 0.392857143 ENSG00000136451 chr17:57983225-57983226;-/T frameshift_variant False VDAC1@p.L251V 1 0.260273973 ENSG00000213585 chr5:133973800-133973800;G/C missense_variant False VCX3B@p.P233R 1 0.271186441 ENSG00000205642 chrX:8466340-8466340;C/G missense_variant False VCX3A@p.P94S 1 0.261261261 ENSG00000169059 chrX:6534026-6534026;G/A missense_variant False VCX3A@p.D78E 1 0.227272727 ENSG00000169059 chrX:6534072-6534072;G/T missense_variant False VCX2@p.D78E 1 0.272727273 ENSG00000177504 chrX:8170218-8170218;G/T missense_variant False VCPKMT@p.D96Gfs*11 1 0.311688312 ENSG00000100483 chr14:50116158-50116159;AT/TAGTCAC frameshift_variant False VEGFB@p.A176G 1 0.289473684 ENSG00000173511 chr11:64237536-64237536;C/G missense_variant False VEGFB@p.D27N 1 0.290322581 ENSG00000173511 chr11:64235476-64235476;G/A missense_variant False VEGFC@p.C358R 1 0.544827586 ENSG00000150630 chr4:176687260-176687260;A/G missense_variant False VEGFC@p.E288D 1 0.216216216 ENSG00000150630 chr4:176687468-176687468;T/G missense_variant False VEGFC@p.G398E 1 0.212121212 ENSG00000150630 chr4:176683993-176683993;C/T missense_variant False VEGFD@p.E240K 1 0.306451613 ENSG00000165197 chrX:15353092-15353092;C/T missense_variant False VEGFD@p.I152M 1 0.938271605 ENSG00000165197 chrX:15358039-15358039;G/C missense_variant False VENTX@p.E211Q 1 0.578947368 ENSG00000151650 chr10:133240160-133240160;G/C missense_variant False VEPH1@p.D401H 1 0.228187919 ENSG00000197415 chr3:157364439-157364439;C/G missense_variant False VEPH1@p.E101K 1 0.434782609 ENSG00000197415 chr3:157470367-157470367;C/T missense_variant False VEPH1@p.E499K 1 0.3 ENSG00000197415 chr3:157363604-157363604;C/T missense_variant False VEPH1@p.L479V 1 0.12987013 ENSG00000197415 chr3:157363664-157363664;G/C missense_variant False VEPH1@p.L7M 1 0.15862069 ENSG00000197415 chr3:157495331-157495331;G/T missense_variant False VEPH1@p.R139K 1 0.25862069 ENSG00000197415 chr3:157460294-157460294;C/T missense_variant False VEZF1@p.E225K 1 0.131782946 ENSG00000136451 chr17:57982754-57982754;C/T missense_variant False VEZF1@p.E330K 1 0.325301205 ENSG00000136451 chr17:57979302-57979302;C/T missense_variant False VEZF1@p.E57Q 1 0.116438356 ENSG00000136451 chr17:57983258-57983258;C/G missense_variant False VPS13D@p.R1036W 1 0.583333333 ENSG00000048707 chr1:12276694-12276694;C/T missense_variant False VPS13D@p.R2521L 1 0.34939759 ENSG00000048707 chr1:12321822-12321822;G/T missense_variant False VAV1@p.V373F 1 0.054252199 ENSG00000141968 chr19:6828646-6828646;G/T missense_variant False VWA3B@p.D313E 1 0.169014085 ENSG00000168658 chr2:98133890-98133890;C/A missense_variant False VWA3B@p.P264A 1 0.12195122 ENSG00000168658 chr2:98128326-98128326;C/G missense_variant False VWA3B@p.P195S 1 0.2625 ENSG00000168658 chr2:98121339-98121339;C/T missense_variant False VWA3B@p.L747V 1 0.151162791 ENSG00000168658 chr2:98230138-98230138;C/G missense_variant False VWA3B@p.K442N 1 0.256410256 ENSG00000168658 chr2:98187989-98187989;G/C missense_variant False VWA3B@p.E477D 1 0.172131148 ENSG00000168658 chr2:98188094-98188094;G/C missense_variant False VWA3B@p.D550H 1 0.573248408 ENSG00000168658 chr2:98194403-98194403;G/C missense_variant False VWA3B@p.D157H 1 0.136054422 ENSG00000168658 chr2:98119690-98119690;G/C missense_variant False VWA3B@p.S237C 1 0.107142857 ENSG00000168658 chr2:98128246-98128246;C/G missense_variant False VWA3A@p.R936C 1 0.333333333 ENSG00000175267 chr16:22146311-22146311;C/T missense_variant False VWA3A@p.H888Y 1 0.428571429 ENSG00000175267 chr16:22144316-22144316;C/T missense_variant False VWA3A@p.E364K 1 0.230769231 ENSG00000175267 chr16:22119001-22119001;G/A missense_variant False VWA3A@p.D404G 1 0.413043478 ENSG00000175267 chr16:22121062-22121062;A/G missense_variant False VWA3A@p.C881R 1 0.457142857 ENSG00000175267 chr16:22144295-22144295;T/C missense_variant False VWA3A@p.A1032P 1 0.217948718 ENSG00000175267 chr16:22149896-22149896;G/C missense_variant False VWA3B@p.Q719E 1 0.220588235 ENSG00000168658 chr2:98230054-98230054;C/G missense_variant False VWA3B@p.S689R 1 0.184210526 ENSG00000168658 chr2:98228249-98228249;T/G missense_variant False VPS13D@p.S1290C 1 0.047808765 ENSG00000048707 chr1:12277457-12277457;C/G missense_variant False VWA7@p.E588K 1 0.405405405 ENSG00000204396 chr6:31767389-31767389;C/T missense_variant False VWA7@p.R454P 1 0.095238095 ENSG00000204396 chr6:31769160-31769160;C/G missense_variant False VWA7@p.P392L 1 0.262773723 ENSG00000204396 chr6:31770026-31770026;G/A missense_variant False VWA7@p.P237L 1 0.275862069 ENSG00000204396 chr6:31774527-31774527;G/A missense_variant False VWA7@p.I480M 1 0.192307692 ENSG00000204396 chr6:31769081-31769081;G/C missense_variant False VWA7@p.F567L 1 0.066666667 ENSG00000204396 chr6:31767450-31767450;G/C missense_variant False VWA7@p.E673G 1 0.329545455 ENSG00000204396 chr6:31766629-31766629;T/C missense_variant False VWA7@p.D129N 1 0.436781609 ENSG00000204396 chr6:31776092-31776092;C/T missense_variant False VWA3B@p.V243M 1 0.208860759 ENSG00000168658 chr2:98128263-98128263;G/A missense_variant False VWA7@p.D129H 1 0.251968504 ENSG00000204396 chr6:31776092-31776092;C/G missense_variant False VWA5A@p.K71N 1 0.105882353 ENSG00000110002 chr11:124117842-124117842;G/C missense_variant False VWA5A@p.G290R 1 0.4375 ENSG00000110002 chr11:124123067-124123067;G/A missense_variant False VWA5A@p.D635H 1 0.341772152 ENSG00000110002 chr11:124141621-124141621;G/C missense_variant False VWA3B@p.W754S 1 0.375 ENSG00000168658 chr2:98230160-98230160;G/C missense_variant False VWA3B@p.V246A 1 0.136842105 ENSG00000168658 chr2:98128273-98128273;T/C missense_variant False VWA2@p.G627S 1 0.4 ENSG00000165816 chr10:114289246-114289246;G/A missense_variant False VWA2@p.E399Q 1 0.32300885 ENSG00000165816 chr10:114286136-114286136;G/C missense_variant False VTN@p.E57K 1 0.238095238 ENSG00000109072 chr17:28369942-28369942;C/T missense_variant False VSNL1@p.D164E 1 0.181818182 ENSG00000163032 chr2:17655310-17655310;C/G missense_variant False VSTM2A@p.P74S 1 0.333333333 ENSG00000170419 chr7:54544762-54544762;C/T missense_variant False VSTM1@p.S7F 1 0.290983607 ENSG00000189068 chr19:54063758-54063758;G/A missense_variant False VSTM1@p.S215C 1 0.416666667 ENSG00000189068 chr19:54041028-54041028;G/C missense_variant False VSTM1@p.G227V 1 0.5 ENSG00000189068 chr19:54040992-54040992;C/A missense_variant False VSTM1@p.E182K 1 0.284210526 ENSG00000189068 chr19:54041925-54041925;C/T missense_variant False VSNL1@p.E46Q 1 0.128301887 ENSG00000163032 chr2:17592210-17592210;G/C missense_variant False VSIR@p.T93M 1 0.217821782 ENSG00000107738 chr10:71761831-71761831;G/A missense_variant False VTN@p.E281Q 1 0.1 ENSG00000109072 chr17:28368659-28368659;C/G missense_variant False VSIG8@p.L273V 1 0.4 ENSG00000243284 chr1:159856037-159856037;G/C missense_variant False VSIG8@p.F7L 1 0.111111111 ENSG00000243284 chr1:159862501-159862501;G/C missense_variant False VSIG4@p.S28T 1 0.086614173 ENSG00000155659 chrX:66033803-66033803;C/G missense_variant False VSIG4@p.K129N 1 0.934210526 ENSG00000155659 chrX:66033499-66033499;C/G missense_variant False VSIG4@p.D121H 1 0.107142857 ENSG00000155659 chrX:66033525-66033525;C/G missense_variant False VSIG2@p.T100Hfs*11 1 0.172413793 ENSG00000019102 chr11:124750843-124750844;-/G frameshift_variant False VSTM2A@p.R89T 1 0.254237288 ENSG00000170419 chr7:54546966-54546966;G/C missense_variant False VSTM2A@p.S222Y 1 0.173913043 ENSG00000170419 chr7:54569039-54569039;C/A missense_variant False VSTM2L@p.E56K 1 0.310810811 ENSG00000132821 chr20:37931679-37931679;G/A missense_variant False VSTM4@p.E316K 1 0.24691358 ENSG00000165633 chr10:49019667-49019667;C/T missense_variant False VSTM4@p.R106L 1 0.128205128 ENSG00000165633 chr10:49107734-49107734;C/A missense_variant False VSX1@p.F183L 1 0.38372093 ENSG00000100987 chr20:25078907-25078907;G/T missense_variant False VSX2@p.E161Q 1 0.468085106 ENSG00000119614 chr14:74245190-74245190;G/C missense_variant False VTA1@p.I152M 1 0.142857143 ENSG00000009844 chr6:142189470-142189470;C/G missense_variant False VTA1@p.K297T 1 0.6 ENSG00000009844 chr6:142218609-142218609;A/C missense_variant False VTA1@p.T210S 1 0.434782609 ENSG00000009844 chr6:142198546-142198546;A/T missense_variant False VTCN1@p.E92Q 1 0.1 ENSG00000134258 chr1:117156745-117156745;C/G missense_variant False VTCN1@p.R100G 1 0.140350877 ENSG00000134258 chr1:117156721-117156721;G/C missense_variant False VTCN1@p.S65C 1 0.101694915 ENSG00000134258 chr1:117156825-117156825;G/C missense_variant False VTI1A@p.E50K 1 0.25 ENSG00000151532 chr10:112460577-112460577;G/A missense_variant False VTI1B@p.E137Q 1 0.082191781 ENSG00000100568 chr14:67656547-67656547;C/G missense_variant False VTI1B@p.E186K 1 0.205882353 ENSG00000100568 chr14:67653483-67653483;C/T missense_variant False VTI1B@p.E216Q 1 0.25 ENSG00000100568 chr14:67651438-67651438;C/G missense_variant False VWA8@p.E803Q 1 0.156862745 ENSG00000102763 chr13:41761147-41761147;C/G missense_variant False VWA8@p.G1572E 1 0.163636364 ENSG00000102763 chr13:41614981-41614981;C/T missense_variant False VWA8@p.K1461N 1 0.227272727 ENSG00000102763 chr13:41675241-41675241;C/G missense_variant False WAC@p.S265C 1 0.267379679 ENSG00000095787 chr10:28595916-28595916;C/G missense_variant False WAPL@p.E170D 1 0.279069767 ENSG00000062650 chr10:86500733-86500733;C/A missense_variant False WAPL@p.E1185A 1 0.454545455 ENSG00000062650 chr10:86437562-86437562;T/G missense_variant False WAPL@p.D209N 1 0.217171717 ENSG00000062650 chr10:86500618-86500618;C/T missense_variant False WAPL@p.D1067G 1 0.1 ENSG00000062650 chr10:86446364-86446364;T/C missense_variant False WAPL@p.D1022N 1 0.405405405 ENSG00000062650 chr10:86452017-86452017;C/T missense_variant False WAC@p.V86A 1 0.362318841 ENSG00000095787 chr10:28535740-28535740;T/C missense_variant False WAC@p.R622Q 1 0.24137931 ENSG00000095787 chr10:28617775-28617775;G/A missense_variant False WAC@p.E589Q 1 0.318181818 ENSG00000095787 chr10:28617675-28617675;G/C missense_variant False WAC@p.Q223E 1 0.298701299 ENSG00000095787 chr10:28595789-28595789;C/G missense_variant False WAC@p.P52S 1 0.150943396 ENSG00000095787 chr10:28535637-28535637;C/T missense_variant False WAC@p.P360L 1 0.48 ENSG00000095787 chr10:28608345-28608345;C/T missense_variant False WAC@p.I465M 1 0.083333333 ENSG00000095787 chr10:28611880-28611880;C/G missense_variant False WAC@p.H84Y 1 0.153846154 ENSG00000095787 chr10:28535733-28535733;C/T missense_variant False WAC@p.H591R 1 0.375 ENSG00000095787 chr10:28617682-28617682;A/G missense_variant False WAPL@p.E273K 1 0.337662338 ENSG00000062650 chr10:86500426-86500426;C/T missense_variant False WAPL@p.Q590E 1 0.184615385 ENSG00000062650 chr10:86472737-86472737;G/C missense_variant False WAPL@p.S347I 1 0.494845361 ENSG00000062650 chr10:86500203-86500203;C/A missense_variant False WAPL@p.S487C 1 0.168831169 ENSG00000062650 chr10:86499783-86499783;G/C missense_variant False WARS1@p.E408K 1 0.284644195 ENSG00000140105 chr14:100337094-100337094;C/T missense_variant False WARS1@p.E81K 1 0.127659574 ENSG00000140105 chr14:100361780-100361780;C/T missense_variant False WARS1@p.K153N 1 0.392405063 ENSG00000140105 chr14:100354530-100354530;C/G missense_variant False WARS1@p.R134K 1 0.124031008 ENSG00000140105 chr14:100360575-100360575;C/T missense_variant False WAS@p.Q20H 1 0.35 ENSG00000015285 chrX:48683913-48683913;G/C missense_variant False WAS@p.R309H 1 0.459459459 ENSG00000015285 chrX:48688448-48688448;G/A missense_variant False WASF1@p.D159H 1 0.786885246 ENSG00000112290 chr6:110107142-110107142;C/G missense_variant False WASF1@p.D244Y 1 0.071428571 ENSG00000112290 chr6:110103541-110103541;C/A missense_variant False WASF1@p.E542K 1 0.18 ENSG00000112290 chr6:110100578-110100578;C/T missense_variant False WASF2@p.D360N 1 0.090909091 ENSG00000158195 chr1:27409953-27409953;C/T missense_variant False WASF2@p.E48K 1 0.2 ENSG00000158195 chr1:27419077-27419077;C/T missense_variant False WASF2@p.E70K 1 0.328767123 ENSG00000158195 chr1:27419011-27419011;C/T missense_variant False WASF2@p.G93E 1 0.227272727 ENSG00000158195 chr1:27418410-27418410;C/T missense_variant False WAC@p.E88Gfs*103 1 0.339285714 ENSG00000095787 chr10:28535742-28535745;AGAG/- frameshift_variant False WAC@p.D13N 1 0.222222222 ENSG00000095787 chr10:28533616-28533616;G/A missense_variant False VWA8@p.L677R 1 0.088235294 ENSG00000102763 chr13:41811258-41811258;A/C missense_variant False VWC2@p.Y304F 1 0.263157895 ENSG00000188730 chr7:49912118-49912118;A/T missense_variant False VWCE@p.I615M 1 0.172413793 ENSG00000167992 chr11:61268959-61268959;G/C missense_variant False VWCE@p.F636L 1 0.099009901 ENSG00000167992 chr11:61267519-61267519;G/C missense_variant False VWCE@p.E640K 1 0.258064516 ENSG00000167992 chr11:61267509-61267509;C/T missense_variant False VWCE@p.D597H 1 0.52 ENSG00000167992 chr11:61269015-61269015;C/G missense_variant False VWCE@p.A762T 1 0.450980392 ENSG00000167992 chr11:61259259-61259259;C/T missense_variant False VWC2L@p.E135Q 1 0.355932203 ENSG00000174453 chr2:214436641-214436641;G/C missense_variant False VWC2@p.Q45E 1 0.625 ENSG00000188730 chr7:49775568-49775568;C/G missense_variant False VWF@p.Y154S 1 0.431506849 ENSG00000110799 chr12:6110445-6110445;T/G missense_variant False VWA8@p.S499L 1 0.454545455 ENSG00000102763 chr13:41833461-41833461;G/A missense_variant False VWA8@p.S388F 1 0.315789474 ENSG00000102763 chr13:41868395-41868395;G/A missense_variant False VWA8@p.S1550F 1 0.127659574 ENSG00000102763 chr13:41615047-41615047;G/A missense_variant False VWA8@p.R643T 1 0.093023256 ENSG00000102763 chr13:41816717-41816717;C/G missense_variant False VWA8@p.R1427S 1 0.5 ENSG00000102763 chr13:41685093-41685093;C/A missense_variant False VWA8@p.Q1181E 1 0.333333333 ENSG00000102763 chr13:41699094-41699094;G/C missense_variant False VWCE@p.K603N 1 0.56097561 ENSG00000167992 chr11:61268995-61268995;C/G missense_variant False VWCE@p.Q119E 1 0.362831858 ENSG00000167992 chr11:61290868-61290868;G/C missense_variant False VWCE@p.R949W 1 0.327272727 ENSG00000167992 chr11:61258698-61258698;G/A missense_variant False VWCE@p.S841F 1 0.152542373 ENSG00000167992 chr11:61259021-61259021;G/A missense_variant False VWCE@p.S845L 1 0.211538462 ENSG00000167992 chr11:61259009-61259009;G/A missense_variant False VWF@p.A1997G 1 0.363636364 ENSG00000110799 chr12:5996075-5996075;G/C missense_variant False VWF@p.E2742Q 1 0.230769231 ENSG00000110799 chr12:5949815-5949815;C/G missense_variant False VWF@p.G1479D 1 0.104166667 ENSG00000110799 chr12:6018982-6018982;C/T missense_variant False VWF@p.G931A 1 0.432432432 ENSG00000110799 chr12:6031472-6031472;C/G missense_variant False VWF@p.I1372T 1 0.296 ENSG00000110799 chr12:6019303-6019303;A/G missense_variant False VWF@p.I715M 1 0.45210728 ENSG00000110799 chr12:6052584-6052584;G/C missense_variant False VWF@p.R273Q 1 0.326086957 ENSG00000110799 chr12:6075391-6075391;C/T missense_variant False VWF@p.S1613C 1 0.180327869 ENSG00000110799 chr12:6018580-6018580;G/C missense_variant False VWF@p.S2548C 1 0.0625 ENSG00000110799 chr12:5969297-5969297;G/C missense_variant False VWF@p.S673C 1 0.633802817 ENSG00000110799 chr12:6052711-6052711;G/C missense_variant False VWF@p.T2602I 1 0.227564103 ENSG00000110799 chr12:5967568-5967568;G/A missense_variant False VWF@p.V972M 1 0.457142857 ENSG00000110799 chr12:6029395-6029395;C/T missense_variant False VSIG2@p.R241P 1 0.171052632 ENSG00000019102 chr11:124748519-124748519;C/G missense_variant False VSIG2@p.D53Y 1 0.140625 ENSG00000019102 chr11:124751485-124751485;C/A missense_variant False VSIG1@p.D88N 1 0.857142857 ENSG00000101842 chrX:108066984-108066984;G/A missense_variant False VPS35L@p.K283N 1 0.333333333 ENSG00000103544 chr16:19608242-19608242;G/C missense_variant False VPS37A@p.D111Y 1 0.35483871 ENSG00000155975 chr8:17268871-17268871;G/T missense_variant False VPS37A@p.A386V 1 0.206896552 ENSG00000155975 chr8:17286390-17286390;C/T missense_variant False VPS36@p.E333Q 1 0.140625 ENSG00000136100 chr13:52416087-52416087;C/G missense_variant False VPS35L@p.T364M 1 0.44 ENSG00000103544 chr16:19616181-19616181;C/T missense_variant False VPS35L@p.M322I 1 0.230769231 ENSG00000103544 chr16:19610358-19610358;G/A missense_variant False VPS35L@p.L797V 1 0.578571429 ENSG00000103544 chr16:19682252-19682252;C/G missense_variant False VPS35L@p.E816D 1 0.198979592 ENSG00000103544 chr16:19682311-19682311;G/C missense_variant False VPS33A@p.L151F 1 0.393442623 ENSG00000139719 chr12:122261293-122261293;G/A missense_variant False VPS35@p.Q586E 1 0.172839506 ENSG00000069329 chr16:46663054-46663054;G/C missense_variant False VPS35@p.P481L 1 0.326530612 ENSG00000069329 chr16:46671787-46671787;G/A missense_variant False VPS35@p.G788E 1 0.2 ENSG00000069329 chr16:46660500-46660500;C/T missense_variant False VPS35@p.D665N 1 0.319148936 ENSG00000069329 chr16:46662317-46662317;C/T missense_variant False VPS33B@p.V459L 1 0.727272727 ENSG00000184056 chr15:91002080-91002080;C/A missense_variant False VPS33B@p.D558H 1 0.313304721 ENSG00000184056 chr15:90999779-90999779;C/G missense_variant False VPS37A@p.D210H 1 0.522727273 ENSG00000155975 chr8:17274944-17274944;G/C missense_variant False VPS37B@p.E118Q 1 0.222222222 ENSG00000139722 chr12:122868494-122868494;C/G missense_variant False VPS37B@p.E57Q 1 0.134328358 ENSG00000139722 chr12:122871004-122871004;C/G missense_variant False VPS37B@p.M227I 1 0.363636364 ENSG00000139722 chr12:122867293-122867293;C/T missense_variant False VPS37B@p.N19K 1 0.5 ENSG00000139722 chr12:122896006-122896006;G/C missense_variant False VPS37C@p.D23H 1 0.259259259 ENSG00000167987 chr11:61138763-61138763;C/G missense_variant False VPS37C@p.E2D 1 0.448275862 ENSG00000167987 chr11:61138824-61138824;C/G missense_variant False VPS37C@p.E73Q 1 0.268571429 ENSG00000167987 chr11:61134084-61134084;C/G missense_variant False VPS37D@p.E88Q 1 0.5 ENSG00000176428 chr7:73669542-73669542;G/C missense_variant False VPS39@p.D165H 1 0.142857143 ENSG00000166887 chr15:42187345-42187345;C/G missense_variant False VPS39@p.E537K 1 0.333333333 ENSG00000166887 chr15:42166593-42166593;C/T missense_variant False VPS39@p.K115N 1 0.196969697 ENSG00000166887 chr15:42189144-42189144;C/G missense_variant False VPS39@p.M744I 1 0.183098592 ENSG00000166887 chr15:42162458-42162458;C/T missense_variant False VPS39@p.S299I 1 0.205479452 ENSG00000166887 chr15:42178315-42178315;C/A missense_variant False VPS41@p.E118Q 1 0.425233645 ENSG00000006715 chr7:38821235-38821235;C/G missense_variant False VPS41@p.F195C 1 0.5 ENSG00000006715 chr7:38795598-38795598;A/C missense_variant False VPS41@p.H336Y 1 0.821656051 ENSG00000006715 chr7:38774121-38774121;G/A missense_variant False VPS33A@p.Q456H 1 0.321568627 ENSG00000139719 chr12:122235858-122235858;C/G missense_variant False VPS33A@p.L125Gfs*42 1 0.333333333 ENSG00000139719 chr12:122261368-122261372;TCAAC/- frameshift_variant False VPS45@p.D438N 1 0.304347826 ENSG00000136631 chr1:150092350-150092350;G/A missense_variant False VPS16@p.M555V 1 0.246376812 ENSG00000215305 chr20:2864230-2864230;A/G missense_variant False VPS25@p.R102Q 1 0.104166667 ENSG00000131475 chr17:42775432-42775432;G/A missense_variant False VPS18@p.H875R 1 0.285714286 ENSG00000104142 chr15:40903043-40903043;A/G missense_variant False VPS18@p.F791L 1 0.090909091 ENSG00000104142 chr15:40902792-40902792;C/G missense_variant False VPS18@p.E660K 1 0.477477477 ENSG00000104142 chr15:40900796-40900796;G/A missense_variant False VPS16@p.P439S 1 0.230769231 ENSG00000215305 chr20:2862918-2862918;C/T missense_variant False VPS16@p.P331T 1 0.258064516 ENSG00000215305 chr20:2861896-2861896;C/A missense_variant False VPS16@p.I829L 1 0.285714286 ENSG00000215305 chr20:2866539-2866539;A/C missense_variant False VPS33A@p.E95K 1 0.5 ENSG00000139719 chr12:122263585-122263585;C/T missense_variant False VPS16@p.H708Y 1 0.101265823 ENSG00000215305 chr20:2865265-2865265;C/T missense_variant False VPS16@p.D698N 1 0.172413793 ENSG00000215305 chr20:2865235-2865235;G/A missense_variant False VPS16@p.D314N 1 0.222222222 ENSG00000215305 chr20:2861845-2861845;G/A missense_variant False VPS13D@p.Y992C 1 0.151960784 ENSG00000048707 chr1:12276563-12276563;A/G missense_variant False VPS13D@p.S3736F 1 0.206185567 ENSG00000048707 chr1:12382992-12382992;C/T missense_variant False VPS13D@p.S2454F 1 0.094339623 ENSG00000048707 chr1:12318284-12318284;C/T missense_variant False VPS26A@p.D263Y 1 0.405405405 ENSG00000122958 chr10:69168548-69168548;G/T missense_variant False VPS26A@p.H310Y 1 0.088888889 ENSG00000122958 chr10:69171213-69171213;C/T missense_variant False VPS26A@p.I292M 1 0.255555556 ENSG00000122958 chr10:69171161-69171161;A/G missense_variant False VPS26B@p.E232Q 1 0.277777778 ENSG00000151502 chr11:134243267-134243267;G/C missense_variant False VPS26B@p.K33Rfs*18 1 0.20212766 ENSG00000151502 chr11:134225216-134225216;G/- frameshift_variant False VPS26C@p.E217Q 1 0.043478261 ENSG00000157538 chr21:37228232-37228232;C/G missense_variant False VPS26C@p.Q146H 1 0.363636364 ENSG00000157538 chr21:37232446-37232446;C/G missense_variant False VPS26C@p.S65A 1 0.510638298 ENSG00000157538 chr21:37240504-37240504;A/C missense_variant False VPS28@p.F206L 1 0.071428571 ENSG00000160948 chr8:144423853-144423853;G/T missense_variant False VPS28@p.I57M 1 0.098591549 ENSG00000160948 chr8:144425706-144425706;G/C missense_variant False VPS28@p.R158Q 1 0.427419355 ENSG00000160948 chr8:144424116-144424116;C/T missense_variant False VPS28@p.S62F 1 0.245614035 ENSG00000160948 chr8:144425692-144425692;G/A missense_variant False VPS29@p.D107H 1 0.387096774 ENSG00000111237 chr12:110493108-110493108;C/G missense_variant False VPS33A@p.A292S 1 0.379746835 ENSG00000139719 chr12:122244664-122244664;C/A missense_variant False VPS33A@p.A320V 1 0.068493151 ENSG00000139719 chr12:122244579-122244579;G/A missense_variant False VPS33A@p.E122K 1 0.413043478 ENSG00000139719 chr12:122261380-122261380;C/T missense_variant False VPS33A@p.E17Q 1 0.122641509 ENSG00000139719 chr12:122266360-122266360;C/G missense_variant False VPS41@p.S272G 1 0.604651163 ENSG00000006715 chr7:38776747-38776747;T/C missense_variant False VPS45@p.K288N 1 0.2 ENSG00000136631 chr1:150081925-150081925;G/C missense_variant False VSIG10@p.R389P 1 0.571428571 ENSG00000176834 chr12:118073752-118073752;C/G missense_variant False VPS8@p.P1162L 1 0.069767442 ENSG00000156931 chr3:184982630-184982630;C/T missense_variant False VRK1@p.A20S 1 0.516483516 ENSG00000100749 chr14:96833529-96833529;G/T missense_variant False VPS9D1@p.R626W 1 0.354166667 ENSG00000075399 chr16:89707881-89707881;G/A missense_variant False VPS9D1@p.G605E 1 0.147058824 ENSG00000075399 chr16:89707943-89707943;C/T missense_variant False VPS9D1@p.G557V 1 0.2 ENSG00000075399 chr16:89708884-89708884;C/A missense_variant False VPS8@p.V377A 1 0.201612903 ENSG00000156931 chr3:184855805-184855805;T/C missense_variant False VPS8@p.R778W 1 0.181818182 ENSG00000156931 chr3:184915424-184915424;C/T missense_variant False VPS8@p.L215V 1 0.183673469 ENSG00000156931 chr3:184849172-184849172;C/G missense_variant False VPS72@p.E45K 1 0.185185185 ENSG00000163159 chr1:151185935-151185935;C/T missense_variant False VPS8@p.K604E 1 0.142857143 ENSG00000156931 chr3:184894731-184894731;A/G missense_variant False VPS8@p.I250V 1 0.432432432 ENSG00000156931 chr3:184850017-184850017;A/G missense_variant False VPS8@p.E952K 1 0.476190476 ENSG00000156931 chr3:184930524-184930524;G/A missense_variant False VPS8@p.E85Q 1 0.394736842 ENSG00000156931 chr3:184832719-184832719;G/C missense_variant False VPS8@p.E1270Q 1 0.068965517 ENSG00000156931 chr3:184996473-184996473;G/C missense_variant False VPS72@p.R147W 1 0.114583333 ENSG00000163159 chr1:151184440-151184440;G/A missense_variant False VRK1@p.D120N 1 0.259259259 ENSG00000100749 chr14:96847328-96847328;G/A missense_variant False VRK1@p.E381K 1 0.272727273 ENSG00000100749 chr14:96876102-96876102;G/A missense_variant False VRK2@p.K33Rfs*10 1 0.477272727 ENSG00000028116 chr2:58048928-58048928;A/- frameshift_variant False VRK2@p.P12S 1 0.202702703 ENSG00000028116 chr2:58048865-58048865;C/T missense_variant False VRK3@p.M436V 1 0.322580645 ENSG00000105053 chr19:49979213-49979213;T/C missense_variant False VRK3@p.R332C 1 0.385714286 ENSG00000105053 chr19:49989741-49989741;G/A missense_variant False VRTN@p.D583Y 1 0.082089552 ENSG00000133980 chr14:74358530-74358530;G/T missense_variant False VRTN@p.E481Q 1 0.461538462 ENSG00000133980 chr14:74358224-74358224;G/C missense_variant False VRTN@p.F296L 1 0.276422764 ENSG00000133980 chr14:74357671-74357671;C/G missense_variant False VRTN@p.P239H 1 0.410447761 ENSG00000133980 chr14:74357499-74357499;C/A missense_variant False VRTN@p.P452S 1 0.09375 ENSG00000133980 chr14:74358137-74358137;C/T missense_variant False VRTN@p.R107G 1 0.307692308 ENSG00000133980 chr14:74357102-74357102;C/G missense_variant False VRTN@p.S390F 1 0.365853659 ENSG00000133980 chr14:74357952-74357952;C/T missense_variant False VRTN@p.S539F 1 0.505154639 ENSG00000133980 chr14:74358399-74358399;C/T missense_variant False VSIG10@p.D284H 1 0.154639175 ENSG00000176834 chr12:118079421-118079421;C/G missense_variant False VSIG10@p.G34V 1 0.193548387 ENSG00000176834 chr12:118095793-118095793;C/A missense_variant False VSIG10@p.K289T 1 0.296296296 ENSG00000176834 chr12:118079405-118079405;T/G missense_variant False VPS72@p.G126S 1 0.108 ENSG00000163159 chr1:151185515-151185515;C/T missense_variant False VPS72@p.E181Q 1 0.098360656 ENSG00000163159 chr1:151184338-151184338;C/G missense_variant False VPS45@p.L390F 1 0.474789916 ENSG00000136631 chr1:150092000-150092000;C/T missense_variant False VPS50@p.D899H 1 0.368421053 ENSG00000004766 chr7:93356000-93356000;G/C missense_variant False VPS50@p.R586W 1 0.128571429 ENSG00000004766 chr7:93311173-93311173;C/T missense_variant False VPS50@p.Q641E 1 0.127118644 ENSG00000004766 chr7:93323676-93323676;C/G missense_variant False VPS50@p.M625K 1 0.205128205 ENSG00000004766 chr7:93323629-93323629;T/A missense_variant False VPS50@p.L762F 1 0.316901408 ENSG00000004766 chr7:93348787-93348787;C/T missense_variant False VPS50@p.E701Q 1 0.183333333 ENSG00000004766 chr7:93341469-93341469;G/C missense_variant False VPS50@p.D958N 1 0.181818182 ENSG00000004766 chr7:93358413-93358413;G/A missense_variant False VPS50@p.D353N 1 0.45 ENSG00000004766 chr7:93291817-93291817;G/A missense_variant False VPS72@p.D303H 1 0.4 ENSG00000163159 chr1:151176832-151176832;C/G missense_variant False VPS4B@p.R253T 1 0.146788991 ENSG00000119541 chr18:63400080-63400080;C/G missense_variant False VPS4B@p.L431F 1 0.392405063 ENSG00000119541 chr18:63391017-63391017;C/G missense_variant False VPS4B@p.D413N 1 0.25 ENSG00000119541 chr18:63391073-63391073;C/T missense_variant False VPS4B@p.D237H 1 0.114649682 ENSG00000119541 chr18:63400129-63400129;C/G missense_variant False VPS4A@p.N127S 1 0.224274406 ENSG00000132612 chr16:69318859-69318859;A/G missense_variant False VPS4A@p.E240D 1 0.222222222 ENSG00000132612 chr16:69320240-69320240;G/C missense_variant False VPS50@p.R90T 1 0.186046512 ENSG00000004766 chr7:93253903-93253903;G/C missense_variant False VPS51@p.A518S 1 0.133333333 ENSG00000149823 chr11:65109388-65109388;G/T missense_variant False VPS51@p.E281Q 1 0.160714286 ENSG00000149823 chr11:65108312-65108312;G/C missense_variant False VPS51@p.K645N 1 0.247058824 ENSG00000149823 chr11:65110538-65110538;G/C missense_variant False VPS51@p.Q487K 1 0.314285714 ENSG00000149823 chr11:65109295-65109295;C/A missense_variant False VPS52@p.A208T 1 0.492753623 ENSG00000223501 chr6:33268576-33268576;C/T missense_variant False VPS52@p.D173H 1 0.129411765 ENSG00000223501 chr6:33269045-33269045;C/G missense_variant False VPS52@p.E213K 1 0.144736842 ENSG00000223501 chr6:33268561-33268561;C/T missense_variant False VPS52@p.E530K 1 0.161434978 ENSG00000223501 chr6:33264040-33264040;C/T missense_variant False VPS52@p.Q497E 1 0.463636364 ENSG00000223501 chr6:33264409-33264409;G/C missense_variant False VPS52@p.R301H 1 0.134453782 ENSG00000223501 chr6:33267896-33267896;C/T missense_variant False VPS52@p.R498H 1 0.217142857 ENSG00000223501 chr6:33264405-33264405;C/T missense_variant False VPS54@p.D903N 1 0.181818182 ENSG00000143952 chr2:63899500-63899500;C/T missense_variant False VPS54@p.I530V 1 0.523809524 ENSG00000143952 chr2:63933824-63933824;T/C missense_variant False VPS54@p.K84N 1 0.415384615 ENSG00000143952 chr2:63981772-63981772;T/G missense_variant False VPS54@p.M235I 1 0.384236453 ENSG00000143952 chr2:63962363-63962363;C/A missense_variant False VPS54@p.V765L 1 0.395348837 ENSG00000143952 chr2:63914223-63914223;C/G missense_variant False VAV2@p.E305K 1 0.307692308 ENSG00000160293 chr9:133797733-133797733;C/T missense_variant False VAV1@p.R798Q 1 0.108695652 ENSG00000141968 chr19:6854007-6854007;G/A missense_variant False USH2A@p.E497K 1 0.144144144 ENSG00000042781 chr1:216323535-216323535;C/T missense_variant False USP34@p.L2691I 1 0.349206349 ENSG00000115464 chr2:61214671-61214671;G/T missense_variant False USP34@p.Q1831K 1 0.074468085 ENSG00000115464 chr2:61266110-61266110;G/T missense_variant False USP34@p.Q1518L 1 0.298611111 ENSG00000115464 chr2:61288873-61288873;T/A missense_variant False USP34@p.Q1249H 1 0.342857143 ENSG00000115464 chr2:61311610-61311610;C/G missense_variant False USP34@p.M2913I 1 0.517857143 ENSG00000115464 chr2:61211873-61211873;C/T missense_variant False USP34@p.L395F 1 0.2 ENSG00000115464 chr2:61370387-61370387;C/G missense_variant False USP34@p.L3151V 1 0.416666667 ENSG00000115464 chr2:61203197-61203197;G/C missense_variant False USP34@p.L224V 1 0.175438596 ENSG00000115464 chr2:61394936-61394936;G/C missense_variant False USP34@p.Q2662H 1 0.458128079 ENSG00000115464 chr2:61220371-61220371;C/G missense_variant False USP34@p.H815D 1 0.106382979 ENSG00000115464 chr2:61343872-61343872;G/C missense_variant False USP34@p.G670E 1 0.234375 ENSG00000115464 chr2:61348146-61348146;C/T missense_variant False USP34@p.G221V 1 0.291666667 ENSG00000115464 chr2:61394944-61394944;C/A missense_variant False USP34@p.E2582K 1 0.139534884 ENSG00000115464 chr2:61223065-61223065;C/T missense_variant False USP34@p.E2448K 1 0.166666667 ENSG00000115464 chr2:61228853-61228853;C/T missense_variant False USP34@p.E1154K 1 0.37804878 ENSG00000115464 chr2:61314667-61314667;C/T missense_variant False USP34@p.Q2340H 1 0.340909091 ENSG00000115464 chr2:61235857-61235857;C/G missense_variant False USP34@p.Q3013E 1 0.169491525 ENSG00000115464 chr2:61206769-61206769;G/C missense_variant False USP48@p.L436V 1 0.068493151 ENSG00000090686 chr1:21728714-21728714;G/C missense_variant False USP34@p.T188I 1 0.47826087 ENSG00000115464 chr2:61395223-61395223;G/A missense_variant False USP35@p.F344L 1 0.142857143 ENSG00000118369 chr11:78200228-78200228;C/A missense_variant False USP35@p.E733K 1 0.614035088 ENSG00000118369 chr11:78210052-78210052;G/A missense_variant False USP35@p.E715G 1 0.421052632 ENSG00000118369 chr11:78209999-78209999;A/G missense_variant False USP35@p.E474K 1 0.075342466 ENSG00000118369 chr11:78207558-78207558;G/A missense_variant False USP35@p.D990N 1 0.2 ENSG00000118369 chr11:78213724-78213724;G/A missense_variant False USP34@p.V836I 1 0.214285714 ENSG00000115464 chr2:61339676-61339676;C/T missense_variant False USP34@p.S3106N 1 0.382352941 ENSG00000115464 chr2:61204323-61204323;C/T missense_variant False USP34@p.Q75E 1 0.236363636 ENSG00000115464 chr2:61406037-61406037;G/C missense_variant False USP34@p.S223F 1 0.362318841 ENSG00000115464 chr2:61394938-61394938;G/A missense_variant False USP34@p.S187L 1 0.365853659 ENSG00000115464 chr2:61395226-61395226;G/A missense_variant False USP34@p.S1683L 1 0.476190476 ENSG00000115464 chr2:61281193-61281193;G/A missense_variant False USP34@p.R2702Q 1 0.216216216 ENSG00000115464 chr2:61214637-61214637;C/T missense_variant False USP34@p.R2375H 1 0.230215827 ENSG00000115464 chr2:61229623-61229623;C/T missense_variant False USP34@p.R1580Q 1 0.528089888 ENSG00000115464 chr2:61288687-61288687;C/T missense_variant False USP34@p.D704N 1 0.098591549 ENSG00000115464 chr2:61348045-61348045;C/T missense_variant False USP34@p.D627G 1 0.5 ENSG00000115464 chr2:61348275-61348275;T/C missense_variant False USP34@p.D3458H 1 0.163265306 ENSG00000115464 chr2:61188371-61188371;C/G missense_variant False USP31@p.S599F 1 0.281622912 ENSG00000103404 chr16:23084894-23084894;G/A missense_variant False USP32@p.E711Q 1 0.174603175 ENSG00000170832 chr17:60212072-60212072;C/G missense_variant False USP32@p.E1475K 1 0.440298507 ENSG00000170832 chr17:60181449-60181449;C/T missense_variant False USP32@p.D124N 1 0.105691057 ENSG00000170832 chr17:60294724-60294724;C/T missense_variant False USP32@p.D124H 1 0.219178082 ENSG00000170832 chr17:60294724-60294724;C/G missense_variant False USP32@p.C1179F 1 0.410714286 ENSG00000170832 chr17:60190669-60190669;C/A missense_variant False USP31@p.S783F 1 0.408163265 ENSG00000103404 chr16:23072185-23072185;G/A missense_variant False USP31@p.S1126F 1 0.173913043 ENSG00000103404 chr16:23068728-23068728;G/A missense_variant False USP34@p.D3064Y 1 0.090277778 ENSG00000115464 chr2:61204566-61204566;C/A missense_variant False USP31@p.S1117L 1 0.164383562 ENSG00000103404 chr16:23068755-23068755;G/A missense_variant False USP31@p.R693K 1 0.486111111 ENSG00000103404 chr16:23080044-23080044;C/T missense_variant False USP31@p.H890N 1 0.346153846 ENSG00000103404 chr16:23069437-23069437;G/T missense_variant False USP31@p.E1050K 1 0.10619469 ENSG00000103404 chr16:23068957-23068957;C/T missense_variant False USP31@p.D653H 1 0.09375 ENSG00000103404 chr16:23080165-23080165;C/G missense_variant False USP30@p.L296F 1 0.127272727 ENSG00000135093 chr12:109082683-109082683;G/C missense_variant False USP32@p.E730Q 1 0.231155779 ENSG00000170832 chr17:60211506-60211506;C/G missense_variant False USP32@p.L1157V 1 0.256410256 ENSG00000170832 chr17:60192896-60192896;G/C missense_variant False USP32@p.N875S 1 0.101190476 ENSG00000170832 chr17:60208803-60208803;T/C missense_variant False USP32@p.V1313I 1 0.219512195 ENSG00000170832 chr17:60183351-60183351;C/T missense_variant False USP33@p.D315N 1 0.203125 ENSG00000077254 chr1:77728580-77728580;C/T missense_variant False USP33@p.G266R 1 0.065217391 ENSG00000077254 chr1:77729874-77729874;C/T missense_variant False USP33@p.L646I 1 0.517241379 ENSG00000077254 chr1:77717942-77717942;G/T missense_variant False USP33@p.L765Ffs*20 1 0.3125 ENSG00000077254 chr1:77714630-77714630;A/- frameshift_variant False USP33@p.P539S 1 0.139534884 ENSG00000077254 chr1:77722064-77722064;G/A missense_variant False USP33@p.P872S 1 0.144144144 ENSG00000077254 chr1:77697920-77697920;G/A missense_variant False USP33@p.Q643K 1 0.356435644 ENSG00000077254 chr1:77717951-77717951;G/T missense_variant False USP33@p.S428P 1 0.416666667 ENSG00000077254 chr1:77725709-77725709;A/G missense_variant False USP33@p.T901I 1 0.085714286 ENSG00000077254 chr1:77697444-77697444;G/A missense_variant False USP33@p.Y102C 1 0.387096774 ENSG00000077254 chr1:77739404-77739404;T/C missense_variant False USP34@p.D1293H 1 0.165 ENSG00000115464 chr2:61301395-61301395;C/G missense_variant False USP34@p.D1759H 1 0.19047619 ENSG00000115464 chr2:61278425-61278425;C/G missense_variant False USP34@p.D2920H 1 0.3125 ENSG00000115464 chr2:61211854-61211854;C/G missense_variant False USP35@p.I398M 1 0.121212121 ENSG00000118369 chr11:78200805-78200805;C/G missense_variant False USP36@p.E1090K 1 0.049180328 ENSG00000055483 chr17:78798524-78798524;C/T missense_variant False USP36@p.G555V 1 0.683333333 ENSG00000055483 chr17:78807380-78807380;C/A missense_variant False USP44@p.G443S 1 0.150684932 ENSG00000136014 chr12:95532930-95532930;C/T missense_variant False USP46@p.S199F 1 0.12195122 ENSG00000109189 chr4:52610583-52610583;G/A missense_variant False USP46@p.D192H 1 0.09375 ENSG00000109189 chr4:52610605-52610605;C/G missense_variant False USP45@p.M742I 1 0.175 ENSG00000123552 chr6:99437334-99437334;C/G missense_variant False USP45@p.E479K 1 0.443037975 ENSG00000123552 chr6:99446337-99446337;C/T missense_variant False USP45@p.E177K 1 0.117117117 ENSG00000123552 chr6:99488770-99488770;C/T missense_variant False USP45@p.D488N 1 0.469135802 ENSG00000123552 chr6:99446310-99446310;C/T missense_variant False USP43@p.S894L 1 0.75 ENSG00000154914 chr17:9728299-9728299;C/T missense_variant False USP42@p.D255H 1 0.15 ENSG00000106346 chr7:6140952-6140952;G/C missense_variant False USP43@p.P1093S 1 0.445652174 ENSG00000154914 chr17:9728895-9728895;C/T missense_variant False USP43@p.L815V 1 0.684210526 ENSG00000154914 chr17:9728061-9728061;C/G missense_variant False USP43@p.F548L 1 0.4 ENSG00000154914 chr17:9701227-9701227;C/G missense_variant False USP43@p.E884Q 1 0.741935484 ENSG00000154914 chr17:9728268-9728268;G/C missense_variant False USP42@p.S64W 1 0.4 ENSG00000106346 chr7:6111324-6111324;C/G missense_variant False USP42@p.S1226C 1 0.322580645 ENSG00000106346 chr7:6156789-6156789;C/G missense_variant False USP47@p.D282N 1 0.506849315 ENSG00000170242 chr11:11903307-11903307;G/A missense_variant False USP47@p.D969H 1 0.161290323 ENSG00000170242 chr11:11942866-11942866;G/C missense_variant False USP47@p.E266K 1 0.166666667 ENSG00000170242 chr11:11902857-11902857;G/A missense_variant False USP47@p.E354D 1 0.192982456 ENSG00000170242 chr11:11920188-11920188;G/C missense_variant False USP47@p.E467Q 1 0.403846154 ENSG00000170242 chr11:11922844-11922844;G/C missense_variant False USP47@p.E673K 1 0.224137931 ENSG00000170242 chr11:11936390-11936390;G/A missense_variant False USP47@p.K1148R 1 0.272727273 ENSG00000170242 chr11:11949923-11949923;A/G missense_variant False USP47@p.M417I 1 0.267716535 ENSG00000170242 chr11:11920467-11920467;G/A missense_variant False USP47@p.Q939K 1 0.203703704 ENSG00000170242 chr11:11942776-11942776;C/A missense_variant False USP47@p.S178C 1 0.095238095 ENSG00000170242 chr11:11892083-11892083;C/G missense_variant False USP48@p.D302V 1 0.303030303 ENSG00000090686 chr1:21748141-21748141;T/A missense_variant False USP48@p.D443Y 1 0.074626866 ENSG00000090686 chr1:21728693-21728693;C/A missense_variant False USP48@p.E560Q 1 0.45 ENSG00000090686 chr1:21721735-21721735;C/G missense_variant False USP48@p.I526V 1 0.224719101 ENSG00000090686 chr1:21723970-21723970;T/C missense_variant False USP48@p.I864M 1 0.169117647 ENSG00000090686 chr1:21703542-21703542;G/C missense_variant False USP48@p.K282N 1 0.129032258 ENSG00000090686 chr1:21748200-21748200;C/G missense_variant False USP48@p.K717N 1 0.337837838 ENSG00000090686 chr1:21706527-21706527;C/G missense_variant False USP42@p.M838I 1 0.267605634 ENSG00000106346 chr7:6154068-6154068;G/A missense_variant False USP40@p.S945L 1 0.833333333 ENSG00000085982 chr2:233493505-233493505;G/A missense_variant False USP36@p.K308del 1 0.337837838 ENSG00000055483 chr17:78818766-78818768;CTT/- inframe_deletion False USP37@p.H550Y 1 0.178947368 ENSG00000135913 chr2:218485686-218485686;G/A missense_variant False USP38@p.D642E 1 0.306532663 ENSG00000170185 chr4:143213902-143213902;T/G missense_variant False USP37@p.W22C 1 0.198830409 ENSG00000135913 chr2:218558588-218558588;C/A missense_variant False USP37@p.S292L 1 0.446428571 ENSG00000135913 chr2:218510129-218510129;G/A missense_variant False USP37@p.R49S 1 0.25748503 ENSG00000135913 chr2:218558507-218558507;C/G missense_variant False USP37@p.P166A 1 0.043103448 ENSG00000135913 chr2:218547025-218547025;G/C missense_variant False USP37@p.L250F 1 0.566666667 ENSG00000135913 chr2:218534637-218534637;C/G missense_variant False USP37@p.G859R 1 0.953488372 ENSG00000135913 chr2:218459858-218459858;C/G missense_variant False USP40@p.Q758H 1 0.25 ENSG00000085982 chr2:233521039-233521039;C/G missense_variant False USP37@p.E747K 1 0.24137931 ENSG00000135913 chr2:218474690-218474690;C/T missense_variant False USP37@p.E653K 1 0.4 ENSG00000135913 chr2:218476926-218476926;C/T missense_variant False USP37@p.D523H 1 0.387096774 ENSG00000135913 chr2:218488327-218488327;C/G missense_variant False USP36@p.S256Y 1 0.7 ENSG00000055483 chr17:78821052-78821052;G/T missense_variant False USP36@p.P542S 1 0.263157895 ENSG00000055483 chr17:78807420-78807420;G/A missense_variant False USP36@p.K47N 1 0.242424242 ENSG00000055483 chr17:78836223-78836223;C/G missense_variant False USP38@p.M248I 1 0.292307692 ENSG00000170185 chr4:143187887-143187887;G/C missense_variant False USP38@p.R173Q 1 0.204188482 ENSG00000170185 chr4:143185968-143185968;G/A missense_variant False USP38@p.R577H 1 0.153846154 ENSG00000170185 chr4:143213706-143213706;G/A missense_variant False USP39@p.D79N 1 0.5 ENSG00000168883 chr2:85616430-85616430;G/A missense_variant False USP39@p.M281I 1 0.291925466 ENSG00000168883 chr2:85630840-85630840;G/A missense_variant False USP39@p.P195_K199del 1 0.101123596 ENSG00000168883 chr2:85625547-85625561;GAAGCCCACTTTCAC/- inframe_deletion False USP3@p.D378N 1 0.162162162 ENSG00000140455 chr15:63588340-63588340;G/A missense_variant False USP3@p.L164V 1 0.492537313 ENSG00000140455 chr15:63558145-63558145;T/G missense_variant False USP3@p.R266C 1 0.431034483 ENSG00000140455 chr15:63570467-63570467;C/T missense_variant False USP3@p.S238N 1 0.15625 ENSG00000140455 chr15:63562960-63562960;G/A missense_variant False USP3@p.S394Y 1 0.90625 ENSG00000140455 chr15:63588389-63588389;C/A missense_variant False USP3@p.T380_E381del 1 0.294117647 ENSG00000140455 chr15:63588343-63588348;GAGACA/- inframe_deletion False USP40@p.D521H 1 0.421052632 ENSG00000085982 chr2:233527568-233527568;C/G missense_variant False USP40@p.E949D 1 0.34375 ENSG00000085982 chr2:233493492-233493492;C/G missense_variant False USP40@p.L833F 1 0.230769231 ENSG00000085982 chr2:233511735-233511735;G/A missense_variant False USP40@p.Q396H 1 0.3 ENSG00000085982 chr2:233533759-233533759;C/G missense_variant False USP40@p.Q426P 1 0.076923077 ENSG00000085982 chr2:233533670-233533670;T/G missense_variant False USP2@p.R91L 1 0.852941176 ENSG00000036672 chr11:119373209-119373209;C/A missense_variant False USP2@p.L419R 1 0.127659574 ENSG00000036672 chr11:119358234-119358234;A/C missense_variant False USP2@p.G26D 1 0.139534884 ENSG00000036672 chr11:119373404-119373404;C/T missense_variant False USP11@p.E760K 1 0.740740741 ENSG00000102226 chrX:47245078-47245078;G/A missense_variant False USP13@p.E479K 1 0.48 ENSG00000058056 chr3:179742251-179742251;G/A missense_variant False USP13@p.E478K 1 0.135135135 ENSG00000058056 chr3:179742248-179742248;G/A missense_variant False USP13@p.D447N 1 0.212389381 ENSG00000058056 chr3:179740331-179740331;G/A missense_variant False USP12@p.Y362Pfs*47 1 0.217391304 ENSG00000152484 chr13:27069308-27069312;ATGTA/- frameshift_variant False USP12@p.Y318C 1 0.146067416 ENSG00000152484 chr13:27071129-27071129;T/C missense_variant False USP11@p.S31L 1 0.71875 ENSG00000102226 chrX:47233006-47233006;C/T missense_variant False USP11@p.E735K 1 0.575757576 ENSG00000102226 chrX:47244912-47244912;G/A missense_variant False USP10@p.E136Q 1 0.254901961 ENSG00000103194 chr16:84744887-84744887;G/C missense_variant False USP11@p.E557K 1 0.166666667 ENSG00000102226 chrX:47242677-47242677;G/A missense_variant False USP11@p.D524H 1 0.066666667 ENSG00000102226 chrX:47242475-47242475;G/C missense_variant False USP10@p.S183L 1 0.484848485 ENSG00000103194 chr16:84745029-84745029;C/T missense_variant False USP10@p.R494C 1 0.161290323 ENSG00000103194 chr16:84760201-84760201;C/T missense_variant False USP10@p.Q271E 1 0.482758621 ENSG00000103194 chr16:84745292-84745292;C/G missense_variant False USP10@p.E63K 1 0.444444444 ENSG00000103194 chr16:84744668-84744668;G/A missense_variant False USP13@p.P532S 1 0.65060241 ENSG00000058056 chr3:179745102-179745102;C/T missense_variant False USP13@p.T492M 1 0.558441558 ENSG00000058056 chr3:179742291-179742291;C/T missense_variant False USP13@p.V554A 1 0.344086022 ENSG00000058056 chr3:179745169-179745169;T/C missense_variant False USP14@p.D91Y 1 0.193548387 ENSG00000101557 chr18:179008-179008;G/T missense_variant False USP14@p.S83L 1 0.295081967 ENSG00000101557 chr18:178985-178985;C/T missense_variant False USP15@p.D663N 1 0.5 ENSG00000135655 chr12:62391183-62391183;G/A missense_variant False USP15@p.D744H 1 0.342105263 ENSG00000135655 chr12:62391426-62391426;G/C missense_variant False USP15@p.D908H 1 0.208333333 ENSG00000135655 chr12:62401234-62401234;G/C missense_variant False USP15@p.E130K 1 0.432653061 ENSG00000135655 chr12:62314829-62314829;G/A missense_variant False USP15@p.E140K 1 0.435028249 ENSG00000135655 chr12:62314859-62314859;G/A missense_variant False USP15@p.E284K 1 0.155555556 ENSG00000135655 chr12:62355410-62355410;G/A missense_variant False USP15@p.E963K 1 0.234375 ENSG00000135655 chr12:62404316-62404316;G/A missense_variant False USP15@p.L396F 1 0.380952381 ENSG00000135655 chr12:62383938-62383938;G/C missense_variant False USP15@p.S267L 1 0.538461538 ENSG00000135655 chr12:62355360-62355360;C/T missense_variant False USP16@p.E477Q 1 0.142857143 ENSG00000156256 chr21:29046739-29046739;G/C missense_variant False USP16@p.E644D 1 0.208955224 ENSG00000156256 chr21:29047242-29047242;G/C missense_variant False USP16@p.E786K 1 0.193548387 ENSG00000156256 chr21:29054071-29054071;G/A missense_variant False USP10@p.E295K 1 0.371428571 ENSG00000103194 chr16:84745364-84745364;G/A missense_variant False USO1@p.M259I 1 0.470588235 ENSG00000138768 chr4:75782780-75782780;G/A missense_variant False USP16@p.V114A 1 0.08 ENSG00000156256 chr21:29034937-29034937;T/C missense_variant False USH2A@p.P3110S 1 0.053030303 ENSG00000042781 chr1:215838034-215838034;G/A missense_variant False USH2A@p.R1962K 1 0.113207547 ENSG00000042781 chr1:216070265-216070265;C/T missense_variant False USH2A@p.R1777W 1 0.070763501 ENSG00000042781 chr1:216078332-216078332;G/A missense_variant False USH2A@p.R1521H 1 0.231884058 ENSG00000042781 chr1:216175317-216175317;C/T missense_variant False USH2A@p.Q77E 1 0.407407407 ENSG00000042781 chr1:216422108-216422108;G/C missense_variant False USH2A@p.Q3163H 1 0.061403509 ENSG00000042781 chr1:215817078-215817078;C/G missense_variant False USH2A@p.P632L 1 0.378378378 ENSG00000042781 chr1:216289356-216289356;G/A missense_variant False USH2A@p.P1489S 1 0.34 ENSG00000042781 chr1:216175414-216175414;G/A missense_variant False USO1@p.E579D 1 0.590909091 ENSG00000138768 chr4:75800672-75800672;G/C missense_variant False USH2A@p.L4633F 1 0.154761905 ENSG00000042781 chr1:215671206-215671206;C/G missense_variant False USH2A@p.L280I 1 0.077844311 ENSG00000042781 chr1:216327601-216327601;G/T missense_variant False USH2A@p.H5142Y 1 0.43697479 ENSG00000042781 chr1:215628909-215628909;G/A missense_variant False USH2A@p.H308Q 1 0.131578947 ENSG00000042781 chr1:216325524-216325524;G/C missense_variant False USH2A@p.G602R 1 0.171206226 ENSG00000042781 chr1:216292211-216292211;C/G missense_variant False USH2A@p.F2633L 1 0.40625 ENSG00000042781 chr1:215888750-215888750;G/T missense_variant False USH2A@p.R1998C 1 0.338709677 ENSG00000042781 chr1:216070158-216070158;G/A missense_variant False USH2A@p.R2323Q 1 0.346153846 ENSG00000042781 chr1:215965469-215965469;C/T missense_variant False USH2A@p.R2927K 1 0.389830508 ENSG00000042781 chr1:215867072-215867072;C/T missense_variant False USH2A@p.R3075T 1 0.183333333 ENSG00000042781 chr1:215844328-215844328;C/G missense_variant False USH2A@p.R310Q 1 0.598765432 ENSG00000042781 chr1:216325519-216325519;C/T missense_variant False USH2A@p.R3270K 1 0.352941176 ENSG00000042781 chr1:215799056-215799056;C/T missense_variant False USH2A@p.R3429K 1 0.142857143 ENSG00000042781 chr1:215786771-215786771;C/T missense_variant False USH2A@p.R3543C 1 0.146341463 ENSG00000042781 chr1:215782155-215782155;G/A missense_variant False USH2A@p.R5076T 1 0.180327869 ENSG00000042781 chr1:215634529-215634529;C/G missense_variant False USH2A@p.R649T 1 0.202020202 ENSG00000042781 chr1:216289305-216289305;C/G missense_variant False USH2A@p.W2876L 1 0.110047847 ENSG00000042781 chr1:215877812-215877812;C/A missense_variant False USH2A@p.Y1703C 1 0.273684211 ENSG00000042781 chr1:216084757-216084757;T/C missense_variant False USH2A@p.Y2993H 1 0.205479452 ENSG00000042781 chr1:215845902-215845902;A/G missense_variant False USHBP1@p.E207Q 1 0.369565217 ENSG00000130307 chr19:17262575-17262575;C/G missense_variant False USHBP1@p.E616K 1 0.359477124 ENSG00000130307 chr19:17251658-17251658;C/T missense_variant False USHBP1@p.P17S 1 0.142857143 ENSG00000130307 chr19:17264251-17264251;G/A missense_variant False USO1@p.E528Q 1 0.416666667 ENSG00000138768 chr4:75800369-75800369;G/C missense_variant False USP16@p.S632L 1 0.465909091 ENSG00000156256 chr21:29047205-29047205;C/T missense_variant False USP17L2@p.E422K 1 0.348837209 ENSG00000223443 chr8:12137497-12137497;C/T missense_variant False USP29@p.S472Y 1 0.051282051 ENSG00000131864 chr19:57130090-57130090;C/A missense_variant False USP26@p.H102Y 1 0.558823529 ENSG00000134588 chrX:133027917-133027917;G/A missense_variant False USP28@p.G120Efs*45 1 0.481481481 ENSG00000048028 chr11:113841678-113841678;C/- frameshift_variant False USP28@p.E965K 1 0.382352941 ENSG00000048028 chr11:113801648-113801648;C/T missense_variant False USP28@p.E268Q 1 0.404255319 ENSG00000048028 chr11:113831951-113831951;C/G missense_variant False USP28@p.D618N 1 0.1 ENSG00000048028 chr11:113812396-113812396;C/T missense_variant False USP28@p.C411F 1 0.137931034 ENSG00000048028 chr11:113823656-113823656;C/A missense_variant False USP26@p.R32I 1 0.25 ENSG00000134588 chrX:133028126-133028126;C/A missense_variant False USP26@p.D321N 1 0.48 ENSG00000134588 chrX:133027260-133027260;C/T missense_variant False USP24@p.V908I 1 0.368421053 ENSG00000162402 chr1:55141644-55141644;C/T missense_variant False USP26@p.A422T 1 0.180851064 ENSG00000134588 chrX:133026957-133026957;C/T missense_variant False USP25@p.S750L 1 0.070707071 ENSG00000155313 chr21:15842452-15842452;C/T missense_variant False USP25@p.S481Y 1 0.274725275 ENSG00000155313 chr21:15826341-15826341;C/A missense_variant False USP25@p.P203S 1 0.242424242 ENSG00000155313 chr21:15799808-15799808;C/T missense_variant False USP25@p.L1009Ffs*58 1 0.455445545 ENSG00000155313 chr21:15878334-15878334;G/- frameshift_variant False USP25@p.I812M 1 0.438596491 ENSG00000155313 chr21:15864366-15864366;C/G missense_variant False USP28@p.K420Nfs*30 1 0.377358491 ENSG00000048028 chr11:113823627-113823628;TT/- frameshift_variant False USP28@p.R156T 1 0.4 ENSG00000048028 chr11:113840665-113840665;C/G missense_variant False USP28@p.R406Q 1 0.722222222 ENSG00000048028 chr11:113823671-113823671;C/T missense_variant False USP29@p.D114Y 1 0.274193548 ENSG00000131864 chr19:57129015-57129015;G/T missense_variant False USP29@p.D115N 1 0.388888889 ENSG00000131864 chr19:57129018-57129018;G/A missense_variant False USP29@p.D130H 1 0.181818182 ENSG00000131864 chr19:57129063-57129063;G/C missense_variant False USP29@p.D176H 1 0.196428571 ENSG00000131864 chr19:57129201-57129201;G/C missense_variant False USP29@p.D780N 1 0.125 ENSG00000131864 chr19:57131013-57131013;G/A missense_variant False USP29@p.E349K 1 0.070588235 ENSG00000131864 chr19:57129720-57129720;G/A missense_variant False USP29@p.E568K 1 0.412844037 ENSG00000131864 chr19:57130377-57130377;G/A missense_variant False USP29@p.E631Q 1 0.245614035 ENSG00000131864 chr19:57130566-57130566;G/C missense_variant False USP29@p.E679K 1 0.161290323 ENSG00000131864 chr19:57130710-57130710;G/A missense_variant False USP29@p.E739Q 1 0.328125 ENSG00000131864 chr19:57130890-57130890;G/C missense_variant False USP29@p.E912K 1 0.458128079 ENSG00000131864 chr19:57131409-57131409;G/A missense_variant False USP29@p.P646L 1 0.461538462 ENSG00000131864 chr19:57130612-57130612;C/T missense_variant False USP29@p.Q604H 1 0.476190476 ENSG00000131864 chr19:57130487-57130487;A/C missense_variant False USP29@p.R608T 1 0.268292683 ENSG00000131864 chr19:57130498-57130498;G/C missense_variant False USP25@p.G121A 1 0.425 ENSG00000155313 chr21:15777997-15777997;G/C missense_variant False USP24@p.R730C 1 0.379310345 ENSG00000162402 chr1:55146991-55146991;G/A missense_variant False USP17L2@p.H186Y 1 0.208333333 ENSG00000223443 chr8:12138205-12138205;G/A missense_variant False USP19@p.S173F 1 0.161764706 ENSG00000172046 chr3:49117525-49117525;G/A missense_variant False USP20@p.E346K 1 0.112820513 ENSG00000136878 chr9:129868350-129868350;G/A missense_variant False USP20@p.A58T 1 0.404040404 ENSG00000136878 chr9:129858086-129858086;G/A missense_variant False USP1@p.E744D 1 0.171428571 ENSG00000162607 chr1:62450855-62450855;G/C missense_variant False USP1@p.E469Q 1 0.164179104 ENSG00000162607 chr1:62447496-62447496;G/C missense_variant False USP1@p.D309N 1 0.303571429 ENSG00000162607 chr1:62445105-62445105;G/A missense_variant False USP19@p.S289L 1 0.460784314 ENSG00000172046 chr3:49116565-49116565;G/A missense_variant False USP19@p.R545H 1 0.184210526 ENSG00000172046 chr3:49115307-49115307;C/T missense_variant False USP24@p.Q2253E 1 0.538461538 ENSG00000162402 chr1:55085950-55085950;G/C missense_variant False USP19@p.R373P 1 0.181818182 ENSG00000172046 chr3:49116097-49116097;C/G missense_variant False USP19@p.E487D 1 0.487804878 ENSG00000172046 chr3:49115562-49115562;T/G missense_variant False USP18@p.H52Y 1 0.284482759 ENSG00000184979 chr22:18157817-18157817;C/T missense_variant False USP18@p.D174N 1 0.15 ENSG00000184979 chr22:18167929-18167929;G/A missense_variant False USP17L2@p.L82H 1 0.365853659 ENSG00000223443 chr8:12138516-12138516;A/T missense_variant False USP17L2@p.L508V 1 0.258992806 ENSG00000223443 chr8:12137239-12137239;G/C missense_variant False USP20@p.S631L 1 0.341176471 ENSG00000136878 chr9:129874727-129874727;C/T missense_variant False USP21@p.A468V 1 0.045454545 ENSG00000143258 chr1:161164853-161164853;C/T missense_variant False USP21@p.D264H 1 0.111111111 ENSG00000143258 chr1:161162623-161162623;G/C missense_variant False USP21@p.E14Q 1 0.245762712 ENSG00000143258 chr1:161160680-161160680;G/C missense_variant False USP21@p.H202Y 1 0.082568807 ENSG00000143258 chr1:161162041-161162041;C/T missense_variant False USP21@p.H211D 1 0.107142857 ENSG00000143258 chr1:161162068-161162068;C/G missense_variant False USP21@p.M122I 1 0.097560976 ENSG00000143258 chr1:161161006-161161006;G/A missense_variant False USP21@p.P56S 1 0.039007092 ENSG00000143258 chr1:161160806-161160806;C/T missense_variant False USP21@p.S191F 1 0.4 ENSG00000143258 chr1:161161212-161161212;C/T missense_variant False USP22@p.R420W 1 0.222222222 ENSG00000124422 chr17:21006960-21006960;G/A missense_variant False USP24@p.D1190N 1 0.116883117 ENSG00000162402 chr1:55129544-55129544;C/T missense_variant False USP24@p.D1998Y 1 0.733333333 ENSG00000162402 chr1:55096567-55096567;C/A missense_variant False USP24@p.E199K 1 0.208333333 ENSG00000162402 chr1:55172484-55172484;C/T missense_variant False USP24@p.E932K 1 0.380952381 ENSG00000162402 chr1:55138967-55138967;C/T missense_variant False USP24@p.G319E 1 0.16 ENSG00000162402 chr1:55162236-55162236;C/T missense_variant False USP24@p.H2155N 1 0.368421053 ENSG00000162402 chr1:55092114-55092114;G/T missense_variant False USP24@p.P223A 1 0.25 ENSG00000162402 chr1:55172412-55172412;G/C missense_variant False USP48@p.L292V 1 0.15 ENSG00000090686 chr1:21748172-21748172;G/C missense_variant False USP48@p.P653S 1 0.194444444 ENSG00000090686 chr1:21715395-21715395;G/A missense_variant False VAV1@p.R314T 1 0.301886792 ENSG00000141968 chr19:6828089-6828089;G/C missense_variant False UTRN@p.E670K 1 0.123076923 ENSG00000152818 chr6:144448705-144448705;G/A missense_variant False UTRN@p.M2302I 1 0.181818182 ENSG00000152818 chr6:144551060-144551060;G/T missense_variant False UTRN@p.L2293F 1 0.444444444 ENSG00000152818 chr6:144551033-144551033;G/C missense_variant False UTRN@p.L1485V 1 0.277777778 ENSG00000152818 chr6:144493316-144493316;T/G missense_variant False UTRN@p.F1657V 1 0.545454545 ENSG00000152818 chr6:144513933-144513933;T/G missense_variant False UTRN@p.E983Q 1 0.387096774 ENSG00000152818 chr6:144462747-144462747;G/C missense_variant False UTRN@p.E958Q 1 0.304347826 ENSG00000152818 chr6:144462672-144462672;G/C missense_variant False UTRN@p.E438K 1 0.147058824 ENSG00000152818 chr6:144438815-144438815;G/A missense_variant False UTRN@p.Q3000H 1 0.476744186 ENSG00000152818 chr6:144793913-144793913;G/T missense_variant False UTRN@p.E3239Q 1 0.283333333 ENSG00000152818 chr6:144835829-144835829;G/C missense_variant False UTRN@p.E2461K 1 0.522727273 ENSG00000152818 chr6:144577190-144577190;G/A missense_variant False UTRN@p.E2104K 1 0.096774194 ENSG00000152818 chr6:144537658-144537658;G/A missense_variant False UTRN@p.E2012Q 1 0.166666667 ENSG00000152818 chr6:144531179-144531179;G/C missense_variant False UTRN@p.E1167K 1 0.346938776 ENSG00000152818 chr6:144479974-144479974;G/A missense_variant False UTRN@p.D981H 1 0.717391304 ENSG00000152818 chr6:144462741-144462741;G/C missense_variant False UTRN@p.P3248S 1 0.291666667 ENSG00000152818 chr6:144835856-144835856;C/T missense_variant False UTRN@p.Q3250H 1 0.150793651 ENSG00000152818 chr6:144835864-144835864;G/C missense_variant False USP48@p.Q747K 1 0.352112676 ENSG00000090686 chr1:21706160-21706160;G/T missense_variant False UTRN@p.S3374F 1 0.317647059 ENSG00000152818 chr6:144839228-144839228;C/T missense_variant False UTY@p.F931L 1 0.869565217 ENSG00000183878 chrY:13323747-13323747;G/C missense_variant False UTS2R@p.S85Y 1 0.25 ENSG00000181408 chr17:82374578-82374578;C/A missense_variant False UTS2@p.K111N 1 0.175675676 ENSG00000049247 chr1:7847808-7847808;C/G missense_variant False UTS2@p.H37N 1 0.2 ENSG00000049247 chr1:7850917-7850917;G/T missense_variant False UTRN@p.V2243L 1 0.28125 ENSG00000152818 chr6:144548771-144548771;G/T missense_variant False UTRN@p.S3385F 1 0.1 ENSG00000152818 chr6:144839261-144839261;C/T missense_variant False UTRN@p.S3139L 1 0.512195122 ENSG00000152818 chr6:144820940-144820940;C/T missense_variant False UTRN@p.Q595R 1 0.157142857 ENSG00000152818 chr6:144447663-144447663;A/G missense_variant False UTRN@p.S2549I 1 0.25 ENSG00000152818 chr6:144678572-144678572;G/T missense_variant False UTRN@p.S2148L 1 0.347826087 ENSG00000152818 chr6:144539367-144539367;C/T missense_variant False UTRN@p.R657C 1 0.322580645 ENSG00000152818 chr6:144448666-144448666;C/T missense_variant False UTRN@p.R1864T 1 0.146788991 ENSG00000152818 chr6:144522029-144522029;G/C missense_variant False UTRN@p.R1367S 1 0.233333333 ENSG00000152818 chr6:144488801-144488801;G/T missense_variant False UTRN@p.R1181K 1 0.217391304 ENSG00000152818 chr6:144482243-144482243;G/A missense_variant False UTRN@p.D939N 1 0.175324675 ENSG00000152818 chr6:144461304-144461304;G/A missense_variant False UTRN@p.D588Y 1 0.391304348 ENSG00000152818 chr6:144447641-144447641;G/T missense_variant False UTRN@p.D417N 1 0.244094488 ENSG00000152818 chr6:144438752-144438752;G/A missense_variant False UTP25@p.E402K 1 0.467532468 ENSG00000117597 chr1:209839050-209839050;G/A missense_variant False UTP25@p.S134F 1 0.347826087 ENSG00000117597 chr1:209833197-209833197;C/T missense_variant False UTP25@p.R670H 1 0.492063492 ENSG00000117597 chr1:209843678-209843678;G/A missense_variant False UTP25@p.Q530H 1 0.140625 ENSG00000117597 chr1:209842369-209842369;G/C missense_variant False UTP25@p.H613Y 1 0.156862745 ENSG00000117597 chr1:209843506-209843506;C/T missense_variant False UTP25@p.H613D 1 0.294117647 ENSG00000117597 chr1:209843506-209843506;C/G missense_variant False UTP25@p.E476K 1 0.483870968 ENSG00000117597 chr1:209840996-209840996;G/A missense_variant False UTP25@p.D423E 1 0.105882353 ENSG00000117597 chr1:209839115-209839115;C/A missense_variant False UTRN@p.D2629N 1 0.317460317 ENSG00000152818 chr6:144730432-144730432;G/A missense_variant False UTP23@p.V108A 1 0.141463415 ENSG00000147679 chr8:116770326-116770326;T/C missense_variant False UTP23@p.R230T 1 0.131868132 ENSG00000147679 chr8:116771781-116771781;G/C missense_variant False UTP20@p.V89F 1 0.253968254 ENSG00000120800 chr12:101285820-101285820;G/T missense_variant False UTP20@p.V1184Ffs*20 1 0.160377358 ENSG00000120800 chr12:101333433-101333433;G/- frameshift_variant False UTP20@p.R1326T 1 0.181818182 ENSG00000120800 chr12:101338921-101338921;G/C missense_variant False UTP20@p.Q708H 1 0.223684211 ENSG00000120800 chr12:101308313-101308313;G/C missense_variant False UTP25@p.S473C 1 0.207692308 ENSG00000117597 chr1:209840988-209840988;C/G missense_variant False UTP3@p.D371H 1 0.171875 ENSG00000132467 chr4:70689788-70689788;G/C missense_variant False UTP3@p.R17Q 1 0.315789474 ENSG00000132467 chr4:70688727-70688727;G/A missense_variant False UTP4@p.D562H 1 0.15942029 ENSG00000141076 chr16:69165377-69165377;G/C missense_variant False UTP4@p.H519Y 1 0.223076923 ENSG00000141076 chr16:69163086-69163086;C/T missense_variant False UTP4@p.L327V 1 0.273972603 ENSG00000141076 chr16:69150881-69150881;C/G missense_variant False UTP4@p.P282L 1 0.5 ENSG00000141076 chr16:69150643-69150643;C/T missense_variant False UTP4@p.T39A 1 0.076923077 ENSG00000141076 chr16:69133574-69133574;A/G missense_variant False UTP6@p.E199K 1 0.145833333 ENSG00000108651 chr17:31887262-31887262;C/T missense_variant False UTP6@p.E555D 1 0.254385965 ENSG00000108651 chr17:31863488-31863488;T/A missense_variant False UTP6@p.F249Cfs*10 1 0.217391304 ENSG00000108651 chr17:31884458-31884465;AGTCAAAT/- frameshift_variant False UTP6@p.F50L 1 0.071428571 ENSG00000108651 chr17:31899673-31899673;G/C missense_variant False UTP6@p.L320V 1 0.061349693 ENSG00000108651 chr17:31880582-31880582;G/C missense_variant False UTP6@p.L367V 1 0.196581197 ENSG00000108651 chr17:31878276-31878276;G/C missense_variant False UTRN@p.A1807V 1 0.323529412 ENSG00000152818 chr6:144516827-144516827;C/T missense_variant False UTRN@p.D1024N 1 0.466666667 ENSG00000152818 chr6:144473723-144473723;G/A missense_variant False UTRN@p.D1462H 1 0.980263158 ENSG00000152818 chr6:144491049-144491049;G/C missense_variant False UTY@p.I890T 1 0.721311475 ENSG00000183878 chrY:13326225-13326225;A/G missense_variant False UTY@p.L270F 1 0.342857143 ENSG00000183878 chrY:13366325-13366325;G/A missense_variant False UTY@p.L70P 1 0.813953488 ENSG00000183878 chrY:13479261-13479261;A/G missense_variant False VARS1@p.R606W 1 0.0625 ENSG00000204394 chr6:31782792-31782792;G/A missense_variant False VARS2@p.M422I 1 0.227272727 ENSG00000137411 chr6:30920189-30920189;G/T missense_variant False VARS2@p.L6F 1 0.255319149 ENSG00000137411 chr6:30914852-30914852;C/T missense_variant False VARS2@p.E540Q 1 0.282608696 ENSG00000137411 chr6:30921291-30921291;G/C missense_variant False VARS2@p.E259K 1 0.554216867 ENSG00000137411 chr6:30917126-30917126;G/A missense_variant False VARS2@p.D779N 1 0.06122449 ENSG00000137411 chr6:30923374-30923374;G/A missense_variant False VARS2@p.A111S 1 0.209090909 ENSG00000137411 chr6:30915402-30915402;G/T missense_variant False VARS1@p.R189H 1 0.196721311 ENSG00000204394 chr6:31792852-31792852;C/T missense_variant False VAPA@p.A147S 1 0.4 ENSG00000101558 chr18:9950416-9950416;G/T missense_variant False VARS1@p.G879R 1 0.395348837 ENSG00000204394 chr6:31781033-31781033;C/T missense_variant False VARS1@p.E1043K 1 0.195121951 ENSG00000204394 chr6:31779769-31779769;C/T missense_variant False VAPB@p.V180F 1 0.4 ENSG00000124164 chr20:58441048-58441048;G/T missense_variant False VAPB@p.K240Rfs*28 1 0.219298246 ENSG00000124164 chr20:58444218-58444218;G/- frameshift_variant False VAPA@p.S190L 1 0.414634146 ENSG00000101558 chr18:9950546-9950546;C/T missense_variant False VAPA@p.R204T 1 0.072727273 ENSG00000101558 chr18:9954072-9954072;G/C missense_variant False VARS2@p.Q372Sfs*20 1 0.1184573 ENSG00000137411 chr6:30919793-30919793;G/- frameshift_variant False VARS2@p.R754H 1 0.585585586 ENSG00000137411 chr6:30923179-30923179;G/A missense_variant False VARS2@p.S19L 1 0.350877193 ENSG00000137411 chr6:30914892-30914892;C/T missense_variant False VARS2@p.S775Y 1 0.279069767 ENSG00000137411 chr6:30923363-30923363;C/A missense_variant False VASH1@p.E351K 1 0.346534653 ENSG00000071246 chr14:76778971-76778971;G/A missense_variant False VASH1@p.R234H 1 0.3 ENSG00000071246 chr14:76776062-76776062;G/A missense_variant False VASN@p.A296T 1 0.21875 ENSG00000168140 chr16:4381763-4381763;G/A missense_variant False VASP@p.G69D 1 0.216216216 ENSG00000125753 chr19:45517957-45517957;G/A missense_variant False VAT1@p.A313T 1 0.388888889 ENSG00000108828 chr17:43016468-43016468;C/T missense_variant False VAT1@p.E9Q 1 0.242424242 ENSG00000108828 chr17:43022298-43022298;C/G missense_variant False VAT1L@p.L376I 1 0.299093656 ENSG00000171724 chr16:77971898-77971898;T/A missense_variant False VAT1L@p.Q344K 1 0.571428571 ENSG00000171724 chr16:77884755-77884755;C/A missense_variant False VAT1L@p.Q67E 1 0.35 ENSG00000171724 chr16:77788881-77788881;C/G missense_variant False VAT1L@p.R370Q 1 0.253164557 ENSG00000171724 chr16:77971881-77971881;G/A missense_variant False VAV1@p.E743D 1 0.085714286 ENSG00000141968 chr19:6852976-6852976;G/T missense_variant False VAV1@p.L431V 1 0.384615385 ENSG00000141968 chr19:6829811-6829811;C/G missense_variant False VAV1@p.P651A 1 0.191919192 ENSG00000141968 chr19:6837021-6837021;C/G missense_variant False VAPA@p.P28L 1 0.191304348 ENSG00000101558 chr18:9931813-9931813;C/T missense_variant False VANGL2@p.K492R 1 0.045977011 ENSG00000162738 chr1:160425287-160425287;A/G missense_variant False UTY@p.R435T 1 0.833333333 ENSG00000183878 chrY:13355993-13355993;C/G missense_variant False UVSSA@p.E67K 1 0.181818182 ENSG00000163945 chr4:1349624-1349624;G/A missense_variant False UXS1@p.P379L 1 0.315789474 ENSG00000115652 chr2:106094153-106094153;G/A missense_variant False UVSSA@p.S260F 1 0.2 ENSG00000163945 chr4:1353258-1353258;C/T missense_variant False UVSSA@p.S260C 1 0.352941176 ENSG00000163945 chr4:1353258-1353258;C/G missense_variant False UVSSA@p.R599Q 1 0.205128205 ENSG00000163945 chr4:1380923-1380923;G/A missense_variant False UVSSA@p.R255T 1 0.115384615 ENSG00000163945 chr4:1353243-1353243;G/C missense_variant False UVSSA@p.G119R 1 0.133333333 ENSG00000163945 chr4:1349780-1349780;G/A missense_variant False UVSSA@p.E213Q 1 0.125 ENSG00000163945 chr4:1353116-1353116;G/C missense_variant False VANGL2@p.F149L 1 0.09178744 ENSG00000162738 chr1:160419256-160419256;C/A missense_variant False UVSSA@p.D366N 1 0.916666667 ENSG00000163945 chr4:1355165-1355165;G/A missense_variant False UVSSA@p.D306N 1 0.444444444 ENSG00000163945 chr4:1353395-1353395;G/A missense_variant False UVSSA@p.D207H 1 0.258064516 ENSG00000163945 chr4:1353098-1353098;G/C missense_variant False UVRAG@p.H200Y 1 0.063291139 ENSG00000198382 chr11:75961448-75961448;C/T missense_variant False UVRAG@p.G591R 1 0.236842105 ENSG00000198382 chr11:76141084-76141084;G/A missense_variant False UVRAG@p.E664D 1 0.796610169 ENSG00000198382 chr11:76141305-76141305;G/C missense_variant False UXS1@p.Q359H 1 0.285714286 ENSG00000115652 chr2:106096772-106096772;C/A missense_variant False VAC14@p.D441H 1 0.151515152 ENSG00000103043 chr16:70762590-70762590;C/G missense_variant False VAC14@p.E182D 1 0.444444444 ENSG00000103043 chr16:70784161-70784161;C/G missense_variant False VAC14@p.G241A 1 0.256410256 ENSG00000103043 chr16:70783122-70783122;C/G missense_variant False VAC14@p.H396Y 1 0.175 ENSG00000103043 chr16:70763000-70763000;G/A missense_variant False VAC14@p.K610N 1 0.316666667 ENSG00000103043 chr16:70698643-70698643;C/G missense_variant False VAC14@p.R623S 1 0.155555556 ENSG00000103043 chr16:70697227-70697227;G/T missense_variant False VAMP1@p.D70N 1 0.25 ENSG00000139190 chr12:6465922-6465922;C/T missense_variant False VAMP3@p.S58F 1 0.49382716 ENSG00000049245 chr1:7777260-7777260;C/T missense_variant False VAMP4@p.E21K 1 0.194444444 ENSG00000117533 chr1:171738354-171738354;C/T missense_variant False VAMP5@p.L93F 1 0.174418605 ENSG00000168899 chr2:85593083-85593083;C/T missense_variant False VAMP8@p.F58L 1 0.139705882 ENSG00000118640 chr2:85581587-85581587;C/A missense_variant False VAMP8@p.I83T 1 0.422145329 ENSG00000118640 chr2:85581661-85581661;T/C missense_variant False VANGL1@p.D228H 1 0.206185567 ENSG00000173218 chr1:115664138-115664138;G/C missense_variant False VANGL1@p.E242Q 1 0.132231405 ENSG00000173218 chr1:115664180-115664180;G/C missense_variant False VANGL1@p.L231F 1 0.2 ENSG00000173218 chr1:115664147-115664147;C/T missense_variant False VANGL1@p.N493S 1 0.268292683 ENSG00000173218 chr1:115691282-115691282;A/G missense_variant False UTP20@p.Q263E 1 0.223684211 ENSG00000120800 chr12:101290784-101290784;C/G missense_variant False UTP20@p.Q1667H 1 0.225806452 ENSG00000120800 chr12:101352171-101352171;G/C missense_variant False UTP20@p.P2668Lfs*17 1 0.25 ENSG00000120800 chr12:101383612-101383627;CTCCCAATGATCATAG/- frameshift_variant False USP6@p.R700Q 1 0.381578947 ENSG00000129204 chr17:5145511-5145511;G/A missense_variant False USP7@p.D502E 1 0.111111111 ENSG00000187555 chr16:8905254-8905254;A/C missense_variant False USP7@p.D187N 1 0.290697674 ENSG00000187555 chr16:8920411-8920411;C/T missense_variant False USP7@p.D1029G 1 0.112676056 ENSG00000187555 chr16:8894809-8894809;T/C missense_variant False USP6NL@p.N465S 1 0.326086957 ENSG00000148429 chr10:11463534-11463534;T/C missense_variant False USP6@p.Y567D 1 0.443548387 ENSG00000129204 chr17:5142128-5142128;T/G missense_variant False USP6@p.S1162L 1 0.272727273 ENSG00000129204 chr17:5169023-5169023;C/T missense_variant False USP6@p.P390A 1 0.114754098 ENSG00000129204 chr17:5139344-5139344;C/G missense_variant False USP54@p.V15I 1 0.084745763 ENSG00000166348 chr10:73575616-73575616;C/T missense_variant False USP6@p.L304V 1 0.566037736 ENSG00000129204 chr17:5137735-5137735;C/G missense_variant False USP6@p.H939N 1 0.170454545 ENSG00000129204 chr17:5155593-5155593;C/A missense_variant False USP6@p.F170L 1 0.344370861 ENSG00000129204 chr17:5135249-5135249;C/G missense_variant False USP6@p.E1029K 1 0.13253012 ENSG00000129204 chr17:5167980-5167980;G/A missense_variant False USP5@p.P645R 1 0.13986014 ENSG00000111667 chr12:6863357-6863357;C/G missense_variant False USP5@p.G714_P724del 1 0.123893805 ENSG00000111667 chr12:6864091-6864123;GGCTCCACAAGCGCAGCAGCCGACCCCCCTCCT/- inframe_deletion False USP7@p.E336K 1 0.592592593 ENSG00000187555 chr16:8915326-8915326;C/T missense_variant False USP7@p.E345Q 1 0.099099099 ENSG00000187555 chr16:8915299-8915299;C/G missense_variant False USP7@p.E491K 1 0.563218391 ENSG00000187555 chr16:8905289-8905289;C/T missense_variant False USP7@p.E957K 1 0.322580645 ENSG00000187555 chr16:8895692-8895692;C/T missense_variant False USP7@p.F594L 1 0.194029851 ENSG00000187555 chr16:8903325-8903325;G/C missense_variant False USP7@p.I649V 1 0.333333333 ENSG00000187555 chr16:8902184-8902184;T/C missense_variant False USP7@p.L304V 1 0.076271186 ENSG00000187555 chr16:8915522-8915522;G/C missense_variant False USP7@p.V929M 1 0.114754098 ENSG00000187555 chr16:8897033-8897033;C/T missense_variant False USP8@p.D260H 1 0.108333333 ENSG00000138592 chr15:50471724-50471724;G/C missense_variant False USP8@p.E223K 1 0.262135922 ENSG00000138592 chr15:50465172-50465172;G/A missense_variant False USP8@p.E468K 1 0.326530612 ENSG00000138592 chr15:50481664-50481664;G/A missense_variant False USP8@p.G664R 1 0.405405405 ENSG00000138592 chr15:50490281-50490281;G/A missense_variant False USP8@p.K565N 1 0.461538462 ENSG00000138592 chr15:50481957-50481957;G/C missense_variant False USP8@p.K699N 1 0.215053763 ENSG00000138592 chr15:50490388-50490388;G/C missense_variant False USP8@p.L199F 1 0.528301887 ENSG00000138592 chr15:50465102-50465102;G/C missense_variant False USP8@p.L614I 1 0.431034483 ENSG00000138592 chr15:50484311-50484311;C/A missense_variant False USP8@p.N1034Y 1 0.48 ENSG00000138592 chr15:50498657-50498657;A/T missense_variant False USP5@p.G327D 1 0.245901639 ENSG00000111667 chr12:6858539-6858539;G/A missense_variant False USP54@p.S736F 1 0.401197605 ENSG00000166348 chr10:73523738-73523738;G/A missense_variant False USP8@p.Q761E 1 0.241758242 ENSG00000138592 chr15:50492747-50492747;C/G missense_variant False USP4@p.E166D 1 0.139664804 ENSG00000114316 chr3:49325029-49325029;C/A missense_variant False USP4@p.S598L 1 0.097826087 ENSG00000114316 chr3:49294497-49294497;G/A missense_variant False USP4@p.Q227H 1 0.129032258 ENSG00000114316 chr3:49324716-49324716;C/G missense_variant False USP4@p.P384S 1 0.604166667 ENSG00000114316 chr3:49302521-49302521;G/A missense_variant False USP4@p.N174* 1 0.193965517 ENSG00000114316 chr3:49325008-49325008;G/AA frameshift_variant False USP4@p.G5E 1 0.342857143 ENSG00000114316 chr3:49340011-49340011;C/T missense_variant False USP4@p.E463K 1 0.075630252 ENSG00000114316 chr3:49300592-49300592;C/T missense_variant False USP4@p.D683H 1 0.186813187 ENSG00000114316 chr3:49286251-49286251;C/G missense_variant False USP54@p.R580Q 1 0.31147541 ENSG00000166348 chr10:73530232-73530232;C/T missense_variant False USP4@p.D428Y 1 0.166666667 ENSG00000114316 chr3:49302389-49302389;C/A missense_variant False USP49@p.R555I 1 0.297297297 ENSG00000164663 chr6:41799836-41799836;C/A missense_variant False USP49@p.M541I 1 0.631067961 ENSG00000164663 chr6:41799877-41799877;C/A missense_variant False USP49@p.L317F 1 0.23943662 ENSG00000164663 chr6:41806033-41806033;C/G missense_variant False USP49@p.D218N 1 0.363636364 ENSG00000164663 chr6:41806332-41806332;C/T missense_variant False USP48@p.Y162F 1 0.134831461 ENSG00000090686 chr1:21753047-21753047;T/A missense_variant False USP4@p.S72F 1 0.419354839 ENSG00000114316 chr3:49335483-49335483;G/A missense_variant False USP4@p.V822L 1 0.248120301 ENSG00000114316 chr3:49284063-49284063;C/G missense_variant False USP51@p.S579C 1 0.25 ENSG00000247746 chrX:55487204-55487204;G/C missense_variant False USP53@p.E194K 1 0.338709677 ENSG00000145390 chr4:119259830-119259830;G/A missense_variant False USP53@p.N615Y 1 0.294117647 ENSG00000145390 chr4:119271703-119271703;A/T missense_variant False USP53@p.R235C 1 0.6 ENSG00000145390 chr4:119260534-119260534;C/T missense_variant False USP53@p.R278G 1 0.156862745 ENSG00000145390 chr4:119261724-119261724;A/G missense_variant False USP53@p.S490C 1 0.296875 ENSG00000145390 chr4:119271329-119271329;C/G missense_variant False USP53@p.S742C 1 0.35 ENSG00000145390 chr4:119273682-119273682;C/G missense_variant False USP54@p.D472N 1 0.341463415 ENSG00000166348 chr10:73530737-73530737;C/T missense_variant False USP54@p.E1016Q 1 0.224489796 ENSG00000166348 chr10:73517380-73517380;C/G missense_variant False USP54@p.E482K 1 0.346153846 ENSG00000166348 chr10:73530707-73530707;C/T missense_variant False USP54@p.E659Q 1 0.209459459 ENSG00000166348 chr10:73529765-73529765;C/G missense_variant False USP54@p.N527D 1 0.480769231 ENSG00000166348 chr10:73530392-73530392;T/C missense_variant False USP54@p.Q1022E 1 0.318584071 ENSG00000166348 chr10:73517362-73517362;G/C missense_variant False USP54@p.Q193K 1 0.2 ENSG00000166348 chr10:73541734-73541734;G/T missense_variant False USP54@p.R553C 1 0.254716981 ENSG00000166348 chr10:73530314-73530314;G/A missense_variant False USP8@p.P1005S 1 0.326315789 ENSG00000138592 chr15:50497206-50497206;C/T missense_variant False USP8@p.R620K 1 0.157142857 ENSG00000138592 chr15:50484330-50484330;G/A missense_variant False UTP20@p.P2047S 1 0.538461538 ENSG00000120800 chr12:101366571-101366571;C/T missense_variant False UTP14C@p.E65Q 1 0.303333333 ENSG00000253797 chr13:52028997-52028997;G/C missense_variant False UTP18@p.P531A 1 0.9 ENSG00000011260 chr17:51293990-51293990;C/G missense_variant False UTP18@p.L178V 1 0.175 ENSG00000011260 chr17:51266258-51266258;C/G missense_variant False UTP18@p.F556L 1 0.075829384 ENSG00000011260 chr17:51296986-51296986;C/G missense_variant False UTP14C@p.S742L 1 0.097142857 ENSG00000253797 chr13:52031029-52031029;C/T missense_variant False UTP14C@p.P372S 1 0.088235294 ENSG00000253797 chr13:52029918-52029918;C/T missense_variant False UTP14C@p.E695Q 1 0.048192771 ENSG00000253797 chr13:52030887-52030887;G/C missense_variant False UTP14A@p.P546R 1 0.501474926 ENSG00000156697 chrX:129925083-129925083;C/G missense_variant False USPL1@p.S603F 1 0.193181818 ENSG00000132952 chr13:30657885-30657885;C/T missense_variant False UTP14A@p.L28F 1 0.21875 ENSG00000156697 chrX:129907424-129907424;G/C missense_variant False UTP14A@p.E66K 1 0.247663551 ENSG00000156697 chrX:129908692-129908692;G/A missense_variant False UTP14A@p.E490D 1 0.262068966 ENSG00000156697 chrX:129924916-129924916;G/C missense_variant False UTP14A@p.E394K 1 0.375 ENSG00000156697 chrX:129921419-129921419;G/A missense_variant False UTP14A@p.D54H 1 0.282051282 ENSG00000156697 chrX:129908117-129908117;G/C missense_variant False UST@p.R73G 1 0.636363636 ENSG00000111962 chr6:148747647-148747647;C/G missense_variant False UTP18@p.R8Q 1 0.294117647 ENSG00000011260 chr17:51260607-51260607;G/A missense_variant False UTP20@p.A371S 1 0.222826087 ENSG00000120800 chr12:101292042-101292042;G/T missense_variant False UTP20@p.D2581H 1 0.41509434 ENSG00000120800 chr12:101383125-101383125;G/C missense_variant False UTP20@p.D2602N 1 0.179487179 ENSG00000120800 chr12:101383188-101383188;G/A missense_variant False UTP20@p.D302N 1 0.3 ENSG00000120800 chr12:101291754-101291754;G/A missense_variant False UTP20@p.E1332Q 1 0.229166667 ENSG00000120800 chr12:101338938-101338938;G/C missense_variant False UTP20@p.E191Q 1 0.209302326 ENSG00000120800 chr12:101289015-101289015;G/C missense_variant False UTP20@p.E2321D 1 0.4 ENSG00000120800 chr12:101373599-101373599;G/C missense_variant False UTP20@p.E2360K 1 0.135135135 ENSG00000120800 chr12:101373714-101373714;G/A missense_variant False UTP20@p.E2707Q 1 0.378378378 ENSG00000120800 chr12:101385645-101385645;G/C missense_variant False UTP20@p.E394Q 1 0.641509434 ENSG00000120800 chr12:101293174-101293174;G/C missense_variant False UTP20@p.E398K 1 0.245901639 ENSG00000120800 chr12:101293186-101293186;G/A missense_variant False UTP20@p.E416K 1 0.236842105 ENSG00000120800 chr12:101293240-101293240;G/A missense_variant False UTP20@p.E853Q 1 0.236111111 ENSG00000120800 chr12:101317482-101317482;G/C missense_variant False UTP20@p.G1895A 1 0.122807018 ENSG00000120800 chr12:101357075-101357075;G/C missense_variant False UTP20@p.K2096N 1 0.107784431 ENSG00000120800 chr12:101367880-101367880;G/C missense_variant False UTP20@p.L2053V 1 0.245283019 ENSG00000120800 chr12:101366589-101366589;C/G missense_variant False UST@p.R123K 1 0.05 ENSG00000111962 chr6:148941355-148941355;G/A missense_variant False USPL1@p.S546L 1 0.229299363 ENSG00000132952 chr13:30657714-30657714;C/T missense_variant False USP9X@p.A1562V 1 0.06122449 ENSG00000124486 chrX:41201141-41201141;C/T missense_variant False USP9X@p.K2287N 1 0.266666667 ENSG00000124486 chrX:41224851-41224851;G/C missense_variant False USP9X@p.R1582S 1 0.096774194 ENSG00000124486 chrX:41201202-41201202;G/C missense_variant False USP9X@p.R1479K 1 0.34375 ENSG00000124486 chrX:41198583-41198583;G/A missense_variant False USP9X@p.R1231T 1 0.434782609 ENSG00000124486 chrX:41187999-41187999;G/C missense_variant False USP9X@p.Q676E 1 0.6 ENSG00000124486 chrX:41165912-41165912;C/G missense_variant False USP9X@p.P462A 1 0.416666667 ENSG00000124486 chrX:41144591-41144591;C/G missense_variant False USP9X@p.N2083I 1 0.234265734 ENSG00000124486 chrX:41218410-41218410;A/T missense_variant False USP9X@p.G1481E 1 0.111111111 ENSG00000124486 chrX:41198589-41198589;G/A missense_variant False USPL1@p.S298L 1 0.261904762 ENSG00000132952 chr13:30637768-30637768;C/T missense_variant False USP9X@p.E1971G 1 0.325842697 ENSG00000124486 chrX:41216479-41216479;A/G missense_variant False USP9X@p.E1452K 1 0.166666667 ENSG00000124486 chrX:41197484-41197484;G/A missense_variant False USP9X@p.D828N 1 0.981818182 ENSG00000124486 chrX:41168064-41168064;G/A missense_variant False USP9X@p.D553H 1 0.192307692 ENSG00000124486 chrX:41150951-41150951;G/C missense_variant False USP9X@p.D498N 1 0.063829787 ENSG00000124486 chrX:41148441-41148441;G/A missense_variant False USP9X@p.D2371H 1 0.392857143 ENSG00000124486 chrX:41229302-41229302;G/C missense_variant False USP9Y@p.D1915Y 1 0.892857143 ENSG00000114374 chrY:12840269-12840269;G/T missense_variant False USP9Y@p.D2278N 1 0.12371134 ENSG00000114374 chrY:12847010-12847010;G/A missense_variant False USP9Y@p.E144K 1 0.307692308 ENSG00000114374 chrY:12725217-12725217;G/A missense_variant False USP9Y@p.E327K 1 0.857142857 ENSG00000114374 chrY:12736203-12736203;G/A missense_variant False USP9Y@p.G1069V 1 0.220779221 ENSG00000114374 chrY:12786257-12786257;G/T missense_variant False USP9Y@p.L172Q 1 0.532467532 ENSG00000114374 chrY:12726651-12726651;T/A missense_variant False USP9Y@p.M1967I 1 0.571428571 ENSG00000114374 chrY:12840427-12840427;G/A missense_variant False USP9Y@p.P48T 1 0.464285714 ENSG00000114374 chrY:12720634-12720634;C/A missense_variant False USP9Y@p.Q2196K 1 0.575757576 ENSG00000114374 chrY:12846350-12846350;C/A missense_variant False USP9Y@p.W682C 1 0.733333333 ENSG00000114374 chrY:12773640-12773640;G/T missense_variant False USPL1@p.D581N 1 0.115942029 ENSG00000132952 chr13:30657818-30657818;G/A missense_variant False USPL1@p.E697K 1 0.179487179 ENSG00000132952 chr13:30658166-30658166;G/A missense_variant False USPL1@p.I265M 1 0.3 ENSG00000132952 chr13:30631401-30631401;A/G missense_variant False USPL1@p.P833S 1 0.136 ENSG00000132952 chr13:30658574-30658574;C/T missense_variant False USPL1@p.R916Q 1 0.225 ENSG00000132952 chr13:30658824-30658824;G/A missense_variant False USPL1@p.S1069L 1 0.108695652 ENSG00000132952 chr13:30659283-30659283;C/T missense_variant False USPL1@p.S264F 1 0.105263158 ENSG00000132952 chr13:30631397-30631397;C/T missense_variant False TUBA1B@p.V182A 1 0.214285714 ENSG00000123416 chr12:49128769-49128769;A/G missense_variant False TUBA1B@p.D33N 1 0.25 ENSG00000123416 chr12:49129629-49129629;C/T missense_variant False TNR@p.R304Q 1 0.892473118 ENSG00000116147 chr1:175403205-175403205;C/T missense_variant False TRAV34@p.E35Q 1 0.428571429 ENSG00000211813 chr14:22207895-22207895;G/C missense_variant False TRAV5@p.K57Q 1 0.146341463 ENSG00000211779 chr14:21749534-21749534;A/C missense_variant False TRAV40@p.S91L 1 0.344086022 ENSG00000211819 chr14:22314874-22314874;C/T missense_variant False TRAV3@p.L52V 1 0.363636364 ENSG00000211777 chr14:21724132-21724132;C/G missense_variant False TRAV3@p.C42R 1 0.711864407 ENSG00000211777 chr14:21724102-21724102;T/C missense_variant False TRAV39@p.D14H 1 0.58974359 ENSG00000211818 chr14:22304093-22304093;G/C missense_variant False TRAV36DV7@p.I11M 1 0.133333333 ENSG00000211815 chr14:22226794-22226794;C/G missense_variant False TRAV29DV5@p.D110H 1 0.333333333 ENSG00000211810 chr14:22163840-22163840;G/C missense_variant False TRAV6@p.P79Q 1 0.195652174 ENSG00000211780 chr14:21768919-21768919;C/A missense_variant False TRAV27@p.R87T 1 0.292682927 ENSG00000211809 chr14:22148565-22148565;G/C missense_variant False TRAV26-2@p.H36N 1 0.151515152 ENSG00000211812 chr14:22203147-22203147;C/A missense_variant False TRAV26-2@p.D48H 1 0.277777778 ENSG00000211812 chr14:22203183-22203183;G/C missense_variant False TRAV26-1@p.N74S 1 0.204081633 ENSG00000211807 chr14:22124178-22124178;A/G missense_variant False TRAV25@p.N18S 1 0.476190476 ENSG00000211806 chr14:22112757-22112757;A/G missense_variant False TRAV24@p.P30H 1 0.55 ENSG00000211805 chr14:22105592-22105592;C/A missense_variant False TRAV6@p.E95G 1 0.133333333 ENSG00000211780 chr14:21768967-21768967;A/G missense_variant False TRAV8-4@p.E90K 1 0.507042254 ENSG00000211790 chr14:21894957-21894957;G/A missense_variant False TRAPPC8@p.H139R 1 0.118110236 ENSG00000153339 chr18:31917604-31917604;T/C missense_variant False TRBV28@p.H48Y 1 0.084745763 ENSG00000211753 chr7:142720958-142720958;C/T missense_variant False TRBV6-1@p.V79F 1 0.223404255 ENSG00000211706 chr7:142328677-142328677;G/T missense_variant False TRBV4-1@p.L109F 1 0.486238532 ENSG00000211710 chr7:142313647-142313647;C/T missense_variant False TRBV3-1@p.E72V 1 0.4375 ENSG00000237702 chr7:142308919-142308919;A/T missense_variant False TRBV3-1@p.E101Q 1 0.163793103 ENSG00000237702 chr7:142309005-142309005;G/C missense_variant False TRBV2@p.L14F 1 0.258928571 ENSG00000226660 chr7:142301039-142301039;G/C missense_variant False TRBV28@p.L97M 1 0.44 ENSG00000211753 chr7:142721105-142721105;C/A missense_variant False TRBV27@p.S99L 1 0.195121951 ENSG00000211752 chr7:142715813-142715813;C/T missense_variant False TRAV8-7@p.E83K 1 0.35 ENSG00000211808 chr14:22132940-22132940;G/A missense_variant False TRBV27@p.Q4Sfs*11 1 0.285714286 ENSG00000211752 chr7:142715394-142715394;C/- frameshift_variant False TRBV24-1@p.D73H 1 0.0625 ENSG00000211750 chr7:142657085-142657085;G/C missense_variant False TRBV20-1@p.E77K 1 0.223404255 ENSG00000211747 chr7:142627293-142627293;G/A missense_variant False TRBV19@p.D20N 1 0.164285714 ENSG00000211746 chr7:142619246-142619246;G/A missense_variant False TRBC2@p.I21M 1 0.142857143 ENSG00000211772 chr7:142801102-142801102;C/G missense_variant False TRAV8-7@p.P48L 1 0.261904762 ENSG00000211808 chr14:22132836-22132836;C/T missense_variant False TRAV23DV6@p.Q42H 1 0.15 ENSG00000211803 chr14:22086723-22086723;G/C missense_variant False TRAV23DV6@p.Q23H 1 0.2 ENSG00000211803 chr14:22086666-22086666;G/C missense_variant False TRAV23DV6@p.I105M 1 0.409090909 ENSG00000211803 chr14:22086912-22086912;C/G missense_variant False TRAPPC9@p.V1032M 1 0.4375 ENSG00000167632 chr8:139732164-139732164;C/T missense_variant False TRAT1@p.S148C 1 0.345132743 ENSG00000163519 chr3:108853759-108853759;C/G missense_variant False TRAT1@p.F131L 1 0.152777778 ENSG00000163519 chr3:108853709-108853709;C/G missense_variant False TRAT1@p.D137Y 1 0.217054264 ENSG00000163519 chr3:108853725-108853725;G/T missense_variant False TRARG1@p.L124Sfs*45 1 0.308641975 ENSG00000184811 chr17:1280367-1280367;C/- frameshift_variant False TRARG1@p.E67Q 1 0.271186441 ENSG00000184811 chr17:1280200-1280200;G/C missense_variant False TRARG1@p.E67K 1 0.358490566 ENSG00000184811 chr17:1280200-1280200;G/A missense_variant False TRAPPC9@p.S108C 1 0.253012048 ENSG00000167632 chr8:140451051-140451051;G/C missense_variant False TRAV21@p.T24M 1 0.464788732 ENSG00000211801 chr14:22052791-22052791;C/T missense_variant False TRAPPC9@p.G983S 1 0.569767442 ENSG00000167632 chr8:139910164-139910164;C/T missense_variant False TRAPPC9@p.F627C 1 0.168831169 ENSG00000167632 chr8:140287709-140287709;A/C missense_variant False TRAPPC9@p.E747Q 1 0.130434783 ENSG00000167632 chr8:140275697-140275697;C/G missense_variant False TRAPPC8@p.V677F 1 0.156862745 ENSG00000153339 chr18:31873463-31873463;C/A missense_variant False TRAPPC8@p.R235P 1 0.346153846 ENSG00000153339 chr18:31913436-31913436;C/G missense_variant False TRAPPC8@p.L1287F 1 0.213114754 ENSG00000153339 chr18:31839434-31839434;C/G missense_variant False TRAV1-1@p.L63F 1 0.203252033 ENSG00000255569 chr14:21622428-21622428;C/T missense_variant False TRAV1-1@p.S20T 1 0.408163265 ENSG00000255569 chr14:21622300-21622300;G/C missense_variant False TRAV10@p.I110M 1 0.725 ENSG00000211784 chr14:21826062-21826062;C/G missense_variant False TRAV12-2@p.A84S 1 0.465648855 ENSG00000211789 chr14:21888412-21888412;G/T missense_variant False TRAV12-3@p.S95F 1 0.330232558 ENSG00000211794 chr14:21966002-21966002;C/T missense_variant False TRAV13-1@p.A111G 1 0.448979592 ENSG00000211788 chr14:21869360-21869360;C/G missense_variant False TRAV13-1@p.L65F 1 0.04 ENSG00000211788 chr14:21869221-21869221;C/T missense_variant False TRAV13-2@p.H92N 1 0.2 ENSG00000211791 chr14:21918690-21918690;C/A missense_variant False TRAV13-2@p.S39C 1 0.368421053 ENSG00000211791 chr14:21918532-21918532;C/G missense_variant False TRAV14DV4@p.E116Q 1 0.241935484 ENSG00000211792 chr14:21924647-21924647;G/C missense_variant False TRAV14DV4@p.N78Y 1 0.163265306 ENSG00000211792 chr14:21924533-21924533;A/T missense_variant False TRAV18@p.C108R 1 0.634146341 ENSG00000211798 chr14:22003660-22003660;T/C missense_variant False TRAV18@p.Y107C 1 0.283018868 ENSG00000211798 chr14:22003658-22003658;A/G missense_variant False TRAV19@p.R83Q 1 0.551724138 ENSG00000211799 chr14:22008079-22008079;G/A missense_variant False TRAV21@p.E36K 1 0.533333333 ENSG00000211801 chr14:22052826-22052826;G/A missense_variant False TRAV21@p.L94V 1 0.291666667 ENSG00000211801 chr14:22053000-22053000;T/G missense_variant False TRAV21@p.S84L 1 0.4 ENSG00000211801 chr14:22052971-22052971;C/T missense_variant False TRDMT1@p.D255N 1 0.440677966 ENSG00000107614 chr10:17157565-17157565;C/T missense_variant False TRDMT1@p.E317D 1 0.193548387 ENSG00000107614 chr10:17153631-17153631;C/G missense_variant False TRDMT1@p.E329Q 1 0.666666667 ENSG00000107614 chr10:17153597-17153597;C/G missense_variant False TRGV2@p.G46V 1 0.358490566 ENSG00000233306 chr7:38363081-38363081;C/A missense_variant False TRH@p.E95Q 1 0.112676056 ENSG00000170893 chr3:129976770-129976770;G/C missense_variant False TRGV9@p.E90K 1 0.46875 ENSG00000211695 chr7:38317115-38317115;C/T missense_variant False TRGV4@p.E38K 1 0.735294118 ENSG00000211698 chr7:38353957-38353957;C/T missense_variant False TRGV3@p.T88S 1 0.192 ENSG00000211699 chr7:38358603-38358603;G/C missense_variant False TRGV2@p.R97T 1 0.303030303 ENSG00000233306 chr7:38362928-38362928;C/G missense_variant False TRGV2@p.R25T 1 0.128205128 ENSG00000233306 chr7:38363144-38363144;C/G missense_variant False TRGC2@p.V166M 1 0.197183099 ENSG00000227191 chr7:38240098-38240098;C/T missense_variant False TREX1@p.P29S 1 0.234042553 ENSG00000213689 chr3:48466740-48466740;C/T missense_variant False TRGC2@p.I19N 1 0.11627907 ENSG00000227191 chr7:38249518-38249518;A/T missense_variant False TRGC2@p.D40Y 1 0.21 ENSG00000227191 chr7:38249456-38249456;C/A missense_variant False TRGC1@p.S81L 1 0.322981366 ENSG00000289746 chr7:38265438-38265438;G/A missense_variant False TRGC1@p.S73R 1 0.161094225 ENSG00000289746 chr7:38265461-38265461;G/C missense_variant False TREX2@p.R24H 1 0.356164384 ENSG00000183479 chrX:153447772-153447772;C/T missense_variant False TREX1@p.S68A 1 0.251655629 ENSG00000213689 chr3:48466857-48466857;T/G missense_variant False TRH@p.G189V 1 0.185185185 ENSG00000170893 chr3:129977053-129977053;G/T missense_variant False TRH@p.Q205E 1 0.3 ENSG00000170893 chr3:129977100-129977100;C/G missense_variant False TRH@p.R140C 1 0.191919192 ENSG00000170893 chr3:129976905-129976905;C/T missense_variant False TRHDE@p.D622H 1 0.594339623 ENSG00000072657 chr12:72562997-72562997;G/C missense_variant False TRHDE@p.D921N 1 0.085714286 ENSG00000072657 chr12:72653068-72653068;G/A missense_variant False TRHDE@p.E258D 1 0.572463768 ENSG00000072657 chr12:72273552-72273552;G/C missense_variant False TRHDE@p.G207S 1 0.394230769 ENSG00000072657 chr12:72273397-72273397;G/A missense_variant False TRHDE@p.G257R 1 0.27027027 ENSG00000072657 chr12:72273547-72273547;G/A missense_variant False TRHDE@p.H320Y 1 0.191176471 ENSG00000072657 chr12:72286859-72286859;C/T missense_variant False TRHDE@p.I241M 1 0.161971831 ENSG00000072657 chr12:72273501-72273501;C/G missense_variant False TRHDE@p.L370V 1 0.142857143 ENSG00000072657 chr12:72378049-72378049;C/G missense_variant False TRHDE@p.P479A 1 0.068571429 ENSG00000072657 chr12:72473166-72473166;C/G missense_variant False TRHDE@p.P598A 1 0.314285714 ENSG00000072657 chr12:72562925-72562925;C/G missense_variant False TRHDE@p.S365_D367dup 1 0.5 ENSG00000072657 chr12:72378033-72378034;-/TCCGGGGAC inframe_insertion False TRHDE@p.T452M 1 0.550561798 ENSG00000072657 chr12:72473086-72473086;C/T missense_variant False TRHDE@p.V386A 1 0.525423729 ENSG00000072657 chr12:72378098-72378098;T/C missense_variant False TRHR@p.D85N 1 0.330275229 ENSG00000174417 chr8:109087765-109087765;G/A missense_variant False TREX1@p.R164Q 1 0.097826087 ENSG00000213689 chr3:48467146-48467146;G/A missense_variant False TREX1@p.K175N 1 0.352941176 ENSG00000213689 chr3:48467180-48467180;G/C missense_variant False TRDMT1@p.E41K 1 0.242424242 ENSG00000107614 chr10:17174604-17174604;C/T missense_variant False TREH@p.A45V 1 0.642857143 ENSG00000118094 chr11:118663395-118663395;G/A missense_variant False TREM2@p.V27M 1 0.101123596 ENSG00000095970 chr6:41161575-41161575;C/T missense_variant False TREM2@p.Q53H 1 0.342465753 ENSG00000095970 chr6:41161495-41161495;C/G missense_variant False TREM2@p.F183I 1 0.090909091 ENSG00000095970 chr6:41159002-41159002;A/T missense_variant False TREM1@p.E62Q 1 0.232758621 ENSG00000124731 chr6:41282617-41282617;C/G missense_variant False TREH@p.K457N 1 0.4 ENSG00000118094 chr11:118659431-118659431;C/A missense_variant False TREH@p.F322L 1 0.571428571 ENSG00000118094 chr11:118660675-118660675;G/C missense_variant False TRDV3@p.L89V 1 0.451612903 ENSG00000256590 chr14:22469117-22469117;G/C missense_variant False TREX1@p.G280V 1 0.185185185 ENSG00000213689 chr3:48467494-48467494;G/T missense_variant False TRDV3@p.D77H 1 0.274336283 ENSG00000256590 chr14:22469153-22469153;C/G missense_variant False TRDN@p.E38K 1 0.347826087 ENSG00000186439 chr6:123571043-123571043;C/T missense_variant False TRDN@p.E375K 1 0.444444444 ENSG00000186439 chr6:123388534-123388534;C/T missense_variant False TRDN@p.D39Hfs*30 1 0.383333333 ENSG00000186439 chr6:123571039-123571040;TC/- frameshift_variant False TRDMT1@p.M75I 1 0.454545455 ENSG00000107614 chr10:17168867-17168867;C/T missense_variant False TRDMT1@p.L133F 1 0.181818182 ENSG00000107614 chr10:17160365-17160365;C/G missense_variant False TREML1@p.E129K 1 0.15942029 ENSG00000161911 chr6:41151376-41151376;C/T missense_variant False TREML1@p.P125T 1 0.094240838 ENSG00000161911 chr6:41153761-41153761;G/T missense_variant False TRERF1@p.E1176K 1 0.072289157 ENSG00000124496 chr6:42228422-42228422;C/T missense_variant False TRERF1@p.E287Q 1 0.128205128 ENSG00000124496 chr6:42268732-42268732;C/G missense_variant False TRERF1@p.E846K 1 0.242424242 ENSG00000124496 chr6:42256772-42256772;C/T missense_variant False TRERF1@p.G1137E 1 0.249417249 ENSG00000124496 chr6:42228538-42228538;C/T missense_variant False TRERF1@p.G529S 1 0.073170732 ENSG00000124496 chr6:42264754-42264754;C/T missense_variant False TRERF1@p.K889R 1 0.170454545 ENSG00000124496 chr6:42246535-42246535;T/C missense_variant False TRERF1@p.L135I 1 0.256916996 ENSG00000124496 chr6:42269188-42269188;G/T missense_variant False TRERF1@p.L830V 1 0.681818182 ENSG00000124496 chr6:42256820-42256820;G/C missense_variant False TRERF1@p.Q1008H 1 0.272727273 ENSG00000124496 chr6:42236247-42236247;C/A missense_variant False TRERF1@p.Q280Nfs*53 1 0.322580645 ENSG00000124496 chr6:42268754-42268754;C/- frameshift_variant False TRERF1@p.R786K 1 0.189189189 ENSG00000124496 chr6:42257082-42257082;C/T missense_variant False TRERF1@p.S845F 1 0.602040816 ENSG00000124496 chr6:42256774-42256774;G/A missense_variant False TRERF1@p.V627L 1 0.285714286 ENSG00000124496 chr6:42263325-42263325;C/G missense_variant False TREX1@p.A123P 1 0.16 ENSG00000213689 chr3:48467022-48467022;G/C missense_variant False TREX1@p.D101H 1 0.375 ENSG00000213689 chr3:48466956-48466956;G/C missense_variant False TRAPPC8@p.K69R 1 0.314814815 ENSG00000153339 chr18:31931475-31931475;T/C missense_variant False TRAPPC8@p.G290D 1 0.35 ENSG00000153339 chr18:31909007-31909007;C/T missense_variant False TUBA1A@p.L269M 1 0.057142857 ENSG00000167552 chr12:49185561-49185561;G/T missense_variant False TRAFD1@p.E294K 1 0.24137931 ENSG00000135148 chr12:112145615-112145615;G/A missense_variant False TRAJ29@p.L16H 1 0.4 ENSG00000211860 chr14:22513984-22513984;T/A missense_variant False TRAJ1@p.G14V 1 0.134615385 ENSG00000211888 chr14:22545075-22545075;G/T missense_variant False TRAJ19@p.R4T 1 0.054607509 ENSG00000211870 chr14:22525272-22525272;G/C missense_variant False TRAIP@p.Y141H 1 0.256637168 ENSG00000183763 chr3:49842535-49842535;A/G missense_variant False TRAFD1@p.I368M 1 0.228571429 ENSG00000135148 chr12:112148250-112148250;C/G missense_variant False TRAFD1@p.H54D 1 0.23015873 ENSG00000135148 chr12:112134850-112134850;C/G missense_variant False TRAFD1@p.E138Q 1 0.306451613 ENSG00000135148 chr12:112140993-112140993;G/C missense_variant False TRAK1@p.D293H 1 0.289473684 ENSG00000182606 chr3:42193182-42193182;G/C missense_variant False TRAFD1@p.A346S 1 0.106796117 ENSG00000135148 chr12:112148182-112148182;G/T missense_variant False TRAF7@p.Y563C 1 0.44488189 ENSG00000131653 chr16:2175895-2175895;A/G missense_variant True TRAF7@p.M301I 1 0.388888889 ENSG00000131653 chr16:2173290-2173290;G/T missense_variant True TRAF6@p.E7K 1 0.387096774 ENSG00000175104 chr11:36501497-36501497;C/T missense_variant False TRAF5@p.L180I 1 0.49122807 ENSG00000082512 chr1:211360071-211360071;C/A missense_variant False TRAF4@p.R174_A181del 1 0.205128205 ENSG00000076604 chr17:28748316-28748339;GCCCGCATGATGCGGCGGCTGCTG/- inframe_deletion False TRAJ57@p.G5E 1 0.205882353 ENSG00000211834 chr14:22478884-22478884;G/A missense_variant False TRAK1@p.D460E 1 0.25203252 ENSG00000182606 chr3:42201007-42201007;C/A missense_variant False TRAPPC8@p.G110E 1 0.107142857 ENSG00000153339 chr18:31931352-31931352;C/T missense_variant False TRAK2@p.R265T 1 0.293877551 ENSG00000115993 chr2:201395420-201395420;C/G missense_variant False TRAM1L1@p.E366Q 1 0.064171123 ENSG00000174599 chr4:117084298-117084298;C/G missense_variant False TRAM1L1@p.E230K 1 0.357142857 ENSG00000174599 chr4:117084706-117084706;C/T missense_variant False TRAM1@p.D79Y 1 0.575757576 ENSG00000067167 chr8:70598208-70598208;C/A missense_variant False TRAM1@p.D192N 1 0.095238095 ENSG00000067167 chr8:70587173-70587173;C/T missense_variant False TRAK2@p.T619A 1 0.119047619 ENSG00000115993 chr2:201386326-201386326;T/C missense_variant False TRAK2@p.S271A 1 0.130136986 ENSG00000115993 chr2:201395403-201395403;A/C missense_variant False TRAK2@p.N580K 1 0.420454545 ENSG00000115993 chr2:201386441-201386441;G/T missense_variant False TRAK1@p.E188K 1 0.169014085 ENSG00000182606 chr3:42188126-42188126;G/A missense_variant False TRAK2@p.M266I 1 0.140350877 ENSG00000115993 chr2:201395416-201395416;C/T missense_variant False TRAK2@p.E127K 1 0.2125 ENSG00000115993 chr2:201399478-201399478;C/T missense_variant False TRAK1@p.L547P 1 0.285714286 ENSG00000182606 chr3:42202648-42202648;T/C missense_variant False TRAK1@p.E824K 1 0.121212121 ENSG00000182606 chr3:42223345-42223345;G/A missense_variant False TRAK1@p.E630K 1 0.042780749 ENSG00000182606 chr3:42209910-42209910;G/A missense_variant False TRAK1@p.E342K 1 0.173913043 ENSG00000182606 chr3:42194852-42194852;G/A missense_variant False TRAF4@p.E463K 1 0.30952381 ENSG00000076604 chr17:28749551-28749551;G/A missense_variant False TRAF4@p.E294Q 1 0.084210526 ENSG00000076604 chr17:28749044-28749044;G/C missense_variant False TRAF4@p.E201K 1 0.476190476 ENSG00000076604 chr17:28748400-28748400;G/A missense_variant False TRADD@p.S22L 1 0.136904762 ENSG00000102871 chr16:67156596-67156596;G/A missense_variant False TRAF3@p.P566R 1 0.16 ENSG00000131323 chr14:102905774-102905774;C/G missense_variant False TRAF2@p.R217T 1 0.130718954 ENSG00000127191 chr9:136916587-136916587;G/C missense_variant False TRAF2@p.E75K 1 0.156521739 ENSG00000127191 chr9:136899628-136899628;G/A missense_variant False TRAF2@p.E325Q 1 0.192307692 ENSG00000127191 chr9:136921050-136921050;G/C missense_variant False TRAF2@p.E153Q 1 0.240740741 ENSG00000127191 chr9:136908160-136908160;G/C missense_variant False TRAF2@p.D332N 1 0.063291139 ENSG00000127191 chr9:136921071-136921071;G/A missense_variant False TRADD@p.E299K 1 0.263157895 ENSG00000102871 chr16:67154693-67154693;C/T missense_variant False TRAF3IP3@p.Y498H 1 0.818181818 ENSG00000009790 chr1:209781387-209781387;T/C missense_variant False TRABD@p.Q208H 1 0.173076923 ENSG00000170638 chr22:50197541-50197541;G/C missense_variant False TRABD@p.M244I 1 0.098360656 ENSG00000170638 chr22:50197883-50197883;G/C missense_variant False TRABD@p.E238K 1 0.169811321 ENSG00000170638 chr22:50197863-50197863;G/A missense_variant False TRABD@p.A157T 1 0.213114754 ENSG00000170638 chr22:50197289-50197289;G/A missense_variant False TRABD2A@p.R311P 1 0.2875 ENSG00000186854 chr2:84839208-84839208;C/G missense_variant False TRABD2A@p.M171I 1 0.274509804 ENSG00000186854 chr2:84870381-84870381;C/T missense_variant False TRAF3@p.R479H 1 0.71875 ENSG00000131323 chr14:102905513-102905513;G/A missense_variant False TRAF3IP1@p.A651T 1 0.444444444 ENSG00000204104 chr2:238398794-238398794;G/A missense_variant False TRAF3IP1@p.E676Q 1 0.4 ENSG00000204104 chr2:238398869-238398869;G/C missense_variant False TRAF3IP1@p.S345L 1 0.273809524 ENSG00000204104 chr2:238334006-238334006;C/T missense_variant False TRAF3IP2@p.E40K 1 0.16091954 ENSG00000056972 chr6:111591996-111591996;C/T missense_variant False TRAF3IP2@p.E98K 1 0.389473684 ENSG00000056972 chr6:111591822-111591822;C/T missense_variant False TRAF3IP2@p.F104L 1 0.104477612 ENSG00000056972 chr6:111591802-111591802;G/C missense_variant False TRAF3IP2@p.H282Y 1 0.444444444 ENSG00000056972 chr6:111591270-111591270;G/A missense_variant False TRAF3IP2@p.Q503H 1 0.19047619 ENSG00000056972 chr6:111563034-111563034;C/A missense_variant False TRAF3IP2@p.Q71E 1 0.202020202 ENSG00000056972 chr6:111591903-111591903;G/C missense_variant False TRAF3IP2@p.S117F 1 0.540540541 ENSG00000056972 chr6:111591764-111591764;G/A missense_variant False TRAF3IP2@p.S155L 1 0.097222222 ENSG00000056972 chr6:111591650-111591650;G/A missense_variant False TRAF3IP2@p.S21L 1 0.682926829 ENSG00000056972 chr6:111592052-111592052;G/A missense_variant False TRAF3IP3@p.D137Y 1 0.794117647 ENSG00000009790 chr1:209762578-209762578;G/T missense_variant False TRAF3IP3@p.E17K 1 0.333333333 ENSG00000009790 chr1:209760088-209760088;G/A missense_variant False TRAF3IP3@p.E293D 1 0.129032258 ENSG00000009790 chr1:209775453-209775453;G/C missense_variant False TRAF3IP3@p.L218V 1 0.54 ENSG00000009790 chr1:209763537-209763537;C/G missense_variant False TRAM1L1@p.E41Q 1 0.174603175 ENSG00000174599 chr4:117085273-117085273;C/G missense_variant False TRAM1L1@p.L102F 1 0.412698413 ENSG00000174599 chr4:117085088-117085088;C/A missense_variant False TRAM1L1@p.S142C 1 0.278846154 ENSG00000174599 chr4:117084969-117084969;G/C missense_variant False TRAPPC12@p.A567T 1 0.457142857 ENSG00000171853 chr2:3465618-3465618;G/A missense_variant False TRAPPC12@p.R402C 1 0.3125 ENSG00000171853 chr2:3421920-3421920;C/T missense_variant False TRAPPC12@p.Q611H 1 0.191489362 ENSG00000171853 chr2:3477751-3477751;G/C missense_variant False TRAPPC12@p.L647V 1 0.210526316 ENSG00000171853 chr2:3478907-3478907;T/G missense_variant False TRAPPC12@p.E531K 1 0.065217391 ENSG00000171853 chr2:3457681-3457681;G/A missense_variant False TRAPPC12@p.E190K 1 0.131578947 ENSG00000171853 chr2:3388191-3388191;G/A missense_variant False TRAPPC12@p.D650H 1 0.137254902 ENSG00000171853 chr2:3478916-3478916;G/C missense_variant False TRAPPC12@p.A406V 1 0.434782609 ENSG00000171853 chr2:3421933-3421933;C/T missense_variant False TRAPPC10@p.S887L 1 0.225806452 ENSG00000160218 chr21:44087819-44087819;C/T missense_variant False TRAPPC11@p.P996T 1 0.073891626 ENSG00000168538 chr4:183705001-183705001;C/A missense_variant False TRAPPC11@p.E780K 1 0.286764706 ENSG00000168538 chr4:183693689-183693689;G/A missense_variant False TRAPPC11@p.E73Q 1 0.091743119 ENSG00000168538 chr4:183666269-183666269;G/C missense_variant False TRAPPC11@p.E647Q 1 0.128205128 ENSG00000168538 chr4:183691361-183691361;G/C missense_variant False TRAPPC11@p.E641K 1 0.561403509 ENSG00000168538 chr4:183691343-183691343;G/A missense_variant False TRAPPC11@p.E640K 1 0.0875 ENSG00000168538 chr4:183691340-183691340;G/A missense_variant False TRAPPC12@p.Y602D 1 0.074074074 ENSG00000171853 chr2:3477722-3477722;T/G missense_variant False TRAPPC13@p.E9Q 1 0.68 ENSG00000113597 chr5:65625085-65625085;G/C missense_variant False TRAPPC13@p.Q197H 1 0.583333333 ENSG00000113597 chr5:65658394-65658394;G/C missense_variant False TRAPPC2L@p.F115L 1 0.267206478 ENSG00000167515 chr16:88859943-88859943;C/G missense_variant False TRAPPC2L@p.R18S 1 0.506224066 ENSG00000167515 chr16:88858637-88858637;C/A missense_variant False TRAPPC2L@p.S124C 1 0.316666667 ENSG00000167515 chr16:88859969-88859969;C/G missense_variant False TRAPPC3@p.E35K 1 0.24 ENSG00000054116 chr1:36140106-36140106;C/T missense_variant False TRAPPC4@p.E29Q 1 0.272727273 ENSG00000196655 chr11:119018880-119018880;G/C missense_variant False TRAPPC4@p.E81Q 1 0.144578313 ENSG00000196655 chr11:119019208-119019208;G/C missense_variant False TRAPPC4@p.I121M 1 0.171875 ENSG00000196655 chr11:119020162-119020162;C/G missense_variant False TRAPPC5@p.F115L 1 0.075471698 ENSG00000181029 chr19:7682598-7682598;C/G missense_variant False TRAPPC6A@p.L18Q 1 0.212121212 ENSG00000007255 chr19:45178166-45178166;A/T missense_variant False TRAPPC8@p.D900N 1 0.181818182 ENSG00000153339 chr18:31864674-31864674;C/T missense_variant False TRAPPC8@p.E1054K 1 0.344827586 ENSG00000153339 chr18:31857568-31857568;C/T missense_variant False TRAPPC8@p.E1304K 1 0.325581395 ENSG00000153339 chr18:31839385-31839385;C/T missense_variant False TRAPPC8@p.E29K 1 0.214285714 ENSG00000153339 chr18:31942680-31942680;C/T missense_variant False TRAPPC8@p.E909Q 1 0.071428571 ENSG00000153339 chr18:31864647-31864647;C/G missense_variant False TRAPPC11@p.A596V 1 0.313432836 ENSG00000168538 chr4:183686642-183686642;C/T missense_variant False TRAPPC10@p.R474S 1 0.297619048 ENSG00000160218 chr21:44077737-44077737;G/T missense_variant False TRAM1L1@p.S341P 1 0.101123596 ENSG00000174599 chr4:117084373-117084373;A/G missense_variant False TRANK1@p.E2816K 1 0.251046025 ENSG00000168016 chr3:36831005-36831005;C/T missense_variant False TRANK1@p.K2231N 1 0.354166667 ENSG00000168016 chr3:36832758-36832758;C/G missense_variant False TRANK1@p.I2805V 1 0.433333333 ENSG00000168016 chr3:36831038-36831038;T/C missense_variant False TRANK1@p.I2462M 1 0.098039216 ENSG00000168016 chr3:36832065-36832065;G/C missense_variant False TRANK1@p.I2339T 1 0.069565217 ENSG00000168016 chr3:36832435-36832435;A/G missense_variant False TRANK1@p.I1018V 1 0.545 ENSG00000168016 chr3:36856538-36856538;T/C missense_variant False TRANK1@p.E583Q 1 0.25 ENSG00000168016 chr3:36857843-36857843;C/G missense_variant False TRANK1@p.E2530Q 1 0.119205298 ENSG00000168016 chr3:36831863-36831863;C/G missense_variant False TRAPPC10@p.Q176E 1 0.465686275 ENSG00000160218 chr21:44055741-44055741;C/G missense_variant False TRANK1@p.E2304Q 1 0.506849315 ENSG00000168016 chr3:36832541-36832541;C/G missense_variant False TRANK1@p.E2045K 1 0.063063063 ENSG00000168016 chr3:36833318-36833318;C/T missense_variant False TRANK1@p.D759Y 1 0.434944238 ENSG00000168016 chr3:36857315-36857315;C/A missense_variant False TRAM2@p.H105Y 1 0.04950495 ENSG00000065308 chr6:52516104-52516104;G/A missense_variant False TRAM2@p.F125L 1 0.28021978 ENSG00000065308 chr6:52516042-52516042;G/T missense_variant False TRAM2@p.E64K 1 0.092307692 ENSG00000065308 chr6:52516732-52516732;C/T missense_variant False TRANK1@p.K557R 1 0.25 ENSG00000168016 chr3:36857920-36857920;T/C missense_variant False TRANK1@p.L2365I 1 0.138461538 ENSG00000168016 chr3:36832358-36832358;G/T missense_variant False TRANK1@p.Q1360H 1 0.283333333 ENSG00000168016 chr3:36855510-36855510;C/A missense_variant False TRANK1@p.R1228T 1 0.346405229 ENSG00000168016 chr3:36855907-36855907;C/G missense_variant False TRANK1@p.R1274Q 1 0.212121212 ENSG00000168016 chr3:36855769-36855769;C/T missense_variant False TRANK1@p.R1438L 1 0.13372093 ENSG00000168016 chr3:36855277-36855277;C/A missense_variant False TRANK1@p.R651K 1 0.389830508 ENSG00000168016 chr3:36857638-36857638;C/T missense_variant False TRANK1@p.R927W 1 0.363636364 ENSG00000168016 chr3:36856811-36856811;G/A missense_variant False TRANK1@p.S1621F 1 0.571428571 ENSG00000168016 chr3:36847240-36847240;G/A missense_variant False TRANK1@p.T1698I 1 0.2 ENSG00000168016 chr3:36842677-36842677;G/A missense_variant False TRANK1@p.V2375M 1 0.289855072 ENSG00000168016 chr3:36832328-36832328;C/T missense_variant False TRAPPC10@p.D976N 1 0.435714286 ENSG00000160218 chr21:44091978-44091978;G/A missense_variant False TRAPPC10@p.E555D 1 0.235294118 ENSG00000160218 chr21:44080069-44080069;G/C missense_variant False TRAPPC10@p.E851K 1 0.320754717 ENSG00000160218 chr21:44087710-44087710;G/A missense_variant False TRAPPC10@p.G261R 1 0.333333333 ENSG00000160218 chr21:44059205-44059205;G/A missense_variant False TRAPPC10@p.I694V 1 0.231578947 ENSG00000160218 chr21:44083144-44083144;A/G missense_variant False TRAPPC10@p.P889R 1 0.37755102 ENSG00000160218 chr21:44087825-44087825;C/G missense_variant False TRHR@p.G94C 1 0.086021505 ENSG00000174417 chr8:109087792-109087792;G/T missense_variant False TRHR@p.G94V 1 0.086021505 ENSG00000174417 chr8:109087793-109087793;G/T missense_variant False TRHR@p.M51I 1 0.544715447 ENSG00000174417 chr8:109087665-109087665;G/A missense_variant False TRIM59@p.F348L 1 0.285714286 ENSG00000213186 chr3:160438140-160438140;G/T missense_variant False TRIM5@p.S422F 1 0.506493506 ENSG00000132256 chr11:5665026-5665026;G/A missense_variant False TRIM5@p.S321N 1 0.159090909 ENSG00000132256 chr11:5665329-5665329;C/T missense_variant False TRIM5@p.L262F 1 0.266666667 ENSG00000132256 chr11:5666063-5666063;C/G missense_variant False TRIM59@p.V95F 1 0.401960784 ENSG00000213186 chr3:160438901-160438901;C/A missense_variant False TRIM59@p.S72C 1 0.24852071 ENSG00000213186 chr3:160438969-160438969;G/C missense_variant False TRIM59@p.R60K 1 0.184210526 ENSG00000213186 chr3:160439005-160439005;C/T missense_variant False TRIM58@p.N468S 1 0.241935484 ENSG00000162722 chr1:247876431-247876431;A/G missense_variant False TRIM6-TRIM34@p.K711N 1 0.657894737 ENSG00000258588 chr11:5643313-5643313;G/C missense_variant False TRIM58@p.A162T 1 0.144927536 ENSG00000162722 chr1:247860680-247860680;G/A missense_variant False TRIM56@p.S560R 1 0.21978022 ENSG00000169871 chr7:101088992-101088992;C/G missense_variant False TRIM56@p.G609A 1 0.252173913 ENSG00000169871 chr7:101089138-101089138;G/C missense_variant False TRIM56@p.G407V 1 0.422222222 ENSG00000169871 chr7:101088532-101088532;G/T missense_variant False TRIM56@p.E61Q 1 0.246376812 ENSG00000169871 chr7:101087493-101087493;G/C missense_variant False TRIM56@p.E353Q 1 0.222222222 ENSG00000169871 chr7:101088369-101088369;G/C missense_variant False TRIM6-TRIM34@p.E576Q 1 0.106382979 ENSG00000258588 chr11:5634775-5634775;G/C missense_variant False TRIM6-TRIM34@p.S333P 1 0.127272727 ENSG00000258588 chr11:5632266-5632266;T/C missense_variant False TRHR@p.S225L 1 0.450980392 ENSG00000174417 chr8:109088186-109088186;C/T missense_variant False TRIM63@p.C173Yfs*9 1 0.126865672 ENSG00000158022 chr1:26060344-26060345;AC/- frameshift_variant False TRIM67@p.W653Lfs*33 1 0.098360656 ENSG00000119283 chr1:231209083-231209084;-/T frameshift_variant False TRIM67@p.V713L 1 0.190839695 ENSG00000119283 chr1:231213828-231213828;G/T missense_variant False TRIM67@p.E415D 1 0.155172414 ENSG00000119283 chr1:231199151-231199151;G/C missense_variant False TRIM67@p.E307Q 1 0.444444444 ENSG00000119283 chr1:231163888-231163888;G/C missense_variant False TRIM67@p.D606N 1 0.309090909 ENSG00000119283 chr1:231206787-231206787;G/A missense_variant False TRIM63@p.E343Q 1 0.051020408 ENSG00000158022 chr1:26053917-26053917;C/G missense_variant False TRIM62@p.V350I 1 0.217391304 ENSG00000116525 chr1:33147557-33147557;C/T missense_variant False TRIM60@p.D111N 1 0.13253012 ENSG00000176979 chr4:165040403-165040403;G/A missense_variant False TRIM62@p.I17M 1 0.6 ENSG00000116525 chr1:33181382-33181382;G/C missense_variant False TRIM62@p.E180K 1 0.314814815 ENSG00000116525 chr1:33159911-33159911;C/T missense_variant False TRIM62@p.E166D 1 0.75 ENSG00000116525 chr1:33165477-33165477;C/G missense_variant False TRIM61@p.A78S 1 0.25 ENSG00000183439 chr4:164969771-164969771;C/A missense_variant False TRIM60@p.I133V 1 0.292682927 ENSG00000176979 chr4:165040469-165040469;A/G missense_variant False TRIM60@p.E470Q 1 0.266666667 ENSG00000176979 chr4:165041480-165041480;G/C missense_variant False TRIM55@p.F165L 1 0.256880734 ENSG00000147573 chr8:66135143-66135143;C/A missense_variant False TRIM55@p.E512Q 1 0.2 ENSG00000147573 chr8:66174480-66174480;G/C missense_variant False TRIM55@p.D155Y 1 0.495934959 ENSG00000147573 chr8:66135111-66135111;G/T missense_variant False TRIM46@p.E233K 1 0.342465753 ENSG00000163462 chr1:155176959-155176959;G/A missense_variant False TRIM47@p.R479G 1 0.469387755 ENSG00000132481 chr17:75874965-75874965;G/C missense_variant False TRIM47@p.D328N 1 0.266666667 ENSG00000132481 chr17:75876282-75876282;C/T missense_variant False TRIM47@p.D328Lfs*71 1 0.325581395 ENSG00000132481 chr17:75876273-75876283;TGACTGAGTCA/- frameshift_variant False TRIM46@p.V609I 1 0.25 ENSG00000163462 chr1:155182088-155182088;G/A missense_variant False TRIM46@p.S314L 1 0.413793103 ENSG00000163462 chr1:155178033-155178033;C/T missense_variant False TRIM46@p.R482Q 1 0.2 ENSG00000163462 chr1:155179791-155179791;G/A missense_variant False TRIM46@p.D568N 1 0.68907563 ENSG00000163462 chr1:155181965-155181965;G/A missense_variant False TRIM51@p.R218T 1 0.114754098 ENSG00000124900 chr11:55888177-55888177;G/C missense_variant False TRIM45@p.R65Q 1 0.309859155 ENSG00000134253 chr1:117121008-117121008;C/T missense_variant False TRIM45@p.I92M 1 0.421052632 ENSG00000134253 chr1:117120926-117120926;G/C missense_variant False TRIM45@p.H509Y 1 0.538461538 ENSG00000134253 chr1:117113428-117113428;G/A missense_variant False TRIM45@p.E80K 1 0.328947368 ENSG00000134253 chr1:117120964-117120964;C/T missense_variant False TRIM45@p.E74K 1 0.277777778 ENSG00000134253 chr1:117120982-117120982;C/T missense_variant False TRIM45@p.D98N 1 0.265625 ENSG00000134253 chr1:117120910-117120910;C/T missense_variant False TRIM47@p.R581C 1 0.116666667 ENSG00000132481 chr17:75874659-75874659;G/A missense_variant False TRIM47@p.S329Cfs*7 1 0.2 ENSG00000132481 chr17:75876266-75876278;AGGAAGCTGACTG/- frameshift_variant False TRIM47@p.S578F 1 0.517241379 ENSG00000132481 chr17:75874667-75874667;G/A missense_variant False TRIM48@p.H140Y 1 0.419354839 ENSG00000150244 chr11:55265273-55265273;C/T missense_variant False TRIM48@p.M17I 1 0.285714286 ENSG00000150244 chr11:55264906-55264906;G/A missense_variant False TRIM49@p.A323E 1 0.253731343 ENSG00000168930 chr11:89798521-89798521;G/T missense_variant False TRIM49@p.E89Q 1 0.140350877 ENSG00000168930 chr11:89804205-89804205;C/G missense_variant False TRIM49@p.M19I 1 0.260869565 ENSG00000168930 chr11:89804413-89804413;C/A missense_variant False TRIM49@p.V409I 1 0.096385542 ENSG00000168930 chr11:89798264-89798264;C/T missense_variant False TRIM4@p.E214Q 1 0.304878049 ENSG00000146833 chr7:99908740-99908740;C/G missense_variant False TRIM4@p.S163C 1 0.322580645 ENSG00000146833 chr7:99909644-99909644;G/C missense_variant False TRIM4@p.S343L 1 0.478632479 ENSG00000146833 chr7:99892638-99892638;G/A missense_variant False TRIM50@p.E101Q 1 0.093023256 ENSG00000146755 chr7:73324487-73324487;C/G missense_variant False TRIM50@p.R52C 1 0.338028169 ENSG00000146755 chr7:73324634-73324634;G/A missense_variant False TRIM51@p.A272E 1 0.25 ENSG00000124900 chr11:55889995-55889995;C/A missense_variant False TRIM51@p.D314H 1 0.624113475 ENSG00000124900 chr11:55891213-55891213;G/C missense_variant False TRIM51@p.H346Y 1 0.10619469 ENSG00000124900 chr11:55891309-55891309;C/T missense_variant False TRIM68@p.E163K 1 0.310344828 ENSG00000167333 chr11:4603280-4603280;C/T missense_variant False TRIM68@p.E208K 1 0.418604651 ENSG00000167333 chr11:4602313-4602313;C/T missense_variant False TRIM69@p.C134R 1 0.287128713 ENSG00000185880 chr15:44755293-44755293;T/C missense_variant False TRIO@p.E2664Q 1 0.40625 ENSG00000038382 chr5:14496988-14496988;G/C missense_variant False TRIO@p.I2250V 1 0.134146341 ENSG00000038382 chr5:14485159-14485159;A/G missense_variant False TRIO@p.G2665E 1 0.180327869 ENSG00000038382 chr5:14496992-14496992;G/A missense_variant False TRIO@p.E887K 1 0.066666667 ENSG00000038382 chr5:14364721-14364721;G/A missense_variant False TRIO@p.E772Q 1 0.078125 ENSG00000038382 chr5:14359454-14359454;G/C missense_variant False TRIO@p.E410Q 1 0.191011236 ENSG00000038382 chr5:14297123-14297123;G/C missense_variant False TRIO@p.E2798K 1 0.28 ENSG00000038382 chr5:14502638-14502638;G/A missense_variant False TRIO@p.E2285K 1 0.333333333 ENSG00000038382 chr5:14487481-14487481;G/A missense_variant False TRIO@p.C1207S 1 0.205607477 ENSG00000038382 chr5:14387487-14387487;G/C missense_variant False TRIO@p.E2192Q 1 0.433333333 ENSG00000038382 chr5:14482690-14482690;G/C missense_variant False TRIO@p.E1960Q 1 0.62962963 ENSG00000038382 chr5:14471432-14471432;G/C missense_variant False TRIO@p.E1513Q 1 0.391608392 ENSG00000038382 chr5:14398993-14398993;G/C missense_variant False TRIO@p.E1328K 1 0.294117647 ENSG00000038382 chr5:14389322-14389322;G/A missense_variant False TRIO@p.E1285Q 1 0.109375 ENSG00000038382 chr5:14387819-14387819;G/C missense_variant False TRIO@p.D2753Y 1 0.276315789 ENSG00000038382 chr5:14498565-14498565;G/T missense_variant False TRIO@p.I2963M 1 0.5125 ENSG00000038382 chr5:14508017-14508017;C/G missense_variant False TRIO@p.K2204N 1 0.282051282 ENSG00000038382 chr5:14482728-14482728;G/C missense_variant False TRIO@p.L1500V 1 0.2 ENSG00000038382 chr5:14398954-14398954;T/G missense_variant False TRIO@p.L496V 1 0.041176471 ENSG00000038382 chr5:14304578-14304578;C/G missense_variant False TRIO@p.L841Ffs*2 1 0.217391304 ENSG00000038382 chr5:14363859-14363863;ACTTG/- frameshift_variant False TRIO@p.M1344I 1 0.048780488 ENSG00000038382 chr5:14389372-14389372;G/T missense_variant False TRIO@p.M2145I 1 0.137583893 ENSG00000038382 chr5:14481588-14481588;G/C missense_variant False TRIO@p.M2588I 1 0.176470588 ENSG00000038382 chr5:14492698-14492698;G/A missense_variant False TRIO@p.N1253K 1 0.630136986 ENSG00000038382 chr5:14387626-14387626;C/A missense_variant False TRIO@p.Q3021H 1 0.277372263 ENSG00000038382 chr5:14508191-14508191;G/C missense_variant False TRIO@p.R2876H 1 0.2125 ENSG00000038382 chr5:14507136-14507136;G/A missense_variant False TRIO@p.R712C 1 0.367346939 ENSG00000038382 chr5:14358265-14358265;C/T missense_variant False TRIO@p.S1170C 1 0.350230415 ENSG00000038382 chr5:14381191-14381191;C/G missense_variant False TRIO@p.S2355C 1 0.619047619 ENSG00000038382 chr5:14487692-14487692;C/G missense_variant False TRIO@p.S475L 1 0.050420168 ENSG00000038382 chr5:14304516-14304516;C/T missense_variant False TRIO@p.T622A 1 0.322580645 ENSG00000038382 chr5:14336545-14336545;A/G missense_variant False TRIOBP@p.A440P 1 0.235294118 ENSG00000100106 chr22:37723874-37723874;G/C missense_variant False TRIO@p.C391Efs*50 1 0.093023256 ENSG00000038382 chr5:14293122-14293123;-/ATGA frameshift_variant False TRIML2@p.P356L 1 0.095238095 ENSG00000179046 chr4:188091620-188091620;G/A missense_variant False TRIM69@p.D139H 1 0.480519481 ENSG00000185880 chr15:44755308-44755308;G/C missense_variant False TRIM71@p.S648F 1 0.130434783 ENSG00000206557 chr3:32891147-32891147;C/T missense_variant False TRIM75P@p.E257K 1 0.35483871 None chr4:165059916-165059916;G/A missense_variant False TRIM73@p.E9K 1 0.180327869 ENSG00000178809 chr7:75398958-75398958;G/A missense_variant False TRIM73@p.E11K 1 0.209302326 ENSG00000178809 chr7:75398964-75398964;G/A missense_variant False TRIM72@p.S13C 1 0.352941176 ENSG00000177238 chr16:31214776-31214776;C/G missense_variant False TRIM72@p.A143T 1 0.583333333 ENSG00000177238 chr16:31219131-31219131;G/A missense_variant False TRIM71@p.S749Y 1 0.509433962 ENSG00000206557 chr3:32891450-32891450;C/A missense_variant False TRIM71@p.S541T 1 0.454545455 ENSG00000206557 chr3:32890826-32890826;G/C missense_variant False TRIML2@p.D416N 1 0.345679012 ENSG00000179046 chr4:188091441-188091441;C/T missense_variant False TRIM71@p.R676C 1 0.156862745 ENSG00000206557 chr3:32891230-32891230;C/T missense_variant False TRIM71@p.Q466E 1 0.094488189 ENSG00000206557 chr3:32890600-32890600;C/G missense_variant False TRIM71@p.E572Q 1 0.192982456 ENSG00000206557 chr3:32890918-32890918;G/C missense_variant False TRIM71@p.D283H 1 0.316831683 ENSG00000206557 chr3:32818927-32818927;G/C missense_variant False TRIM6@p.E159K 1 0.612403101 ENSG00000121236 chr11:5604585-5604585;G/A missense_variant False TRIM69@p.E234Q 1 0.222222222 ENSG00000185880 chr15:44758741-44758741;G/C missense_variant False TRIM75P@p.I138M 1 0.518867925 None chr4:165059561-165059561;T/G missense_variant False TRIM75P@p.S265L 1 0.106382979 None chr4:165059941-165059941;C/T missense_variant False TRIM75P@p.S310F 1 0.25 None chr4:165060076-165060076;C/T missense_variant False TRIM7@p.I509M 1 0.102564103 ENSG00000146054 chr5:181195175-181195175;G/C missense_variant False TRIM7@p.R233W 1 0.081081081 ENSG00000146054 chr5:181200003-181200003;G/A missense_variant False TRIM7@p.R481C 1 0.2 ENSG00000146054 chr5:181195261-181195261;G/A missense_variant False TRIM7@p.S305C 1 0.4 ENSG00000146054 chr5:181198764-181198764;G/C missense_variant False TRIM8@p.E111Q 1 0.5 ENSG00000171206 chr10:102644948-102644948;G/C missense_variant False TRIM8@p.E183D 1 0.44 ENSG00000171206 chr10:102645166-102645166;G/T missense_variant False TRIM8@p.R152C 1 0.5 ENSG00000171206 chr10:102645071-102645071;C/T missense_variant False TRIM9@p.E152K 1 0.222222222 ENSG00000100505 chr14:51094486-51094486;C/T missense_variant False TRIM9@p.K206N 1 0.205128205 ENSG00000100505 chr14:51094322-51094322;C/A missense_variant False TRIM9@p.P203H 1 0.111111111 ENSG00000100505 chr14:51094332-51094332;G/T missense_variant False TRIM9@p.R219Q 1 0.25 ENSG00000100505 chr14:51094284-51094284;C/T missense_variant False TRIML1@p.S234F 1 0.101851852 ENSG00000184108 chr4:188142448-188142448;C/T missense_variant False TRIML1@p.S52Y 1 0.041666667 ENSG00000184108 chr4:188139713-188139713;C/A missense_variant False TRIML1@p.W343R 1 0.527272727 ENSG00000184108 chr4:188146992-188146992;T/C missense_variant False TRIM44@p.E10K 1 0.25 ENSG00000166326 chr11:35663139-35663139;G/A missense_variant False TRIM43@p.R156I 1 0.346153846 ENSG00000144015 chr2:95595105-95595105;G/T missense_variant False TRIM43@p.Q10H 1 0.532751092 ENSG00000144015 chr2:95594053-95594053;G/C missense_variant False TRIM21@p.E38D 1 0.347826087 ENSG00000132109 chr11:4390296-4390296;T/A missense_variant False TRIM22@p.P480S 1 0.48 ENSG00000132274 chr11:5709589-5709589;C/T missense_variant False TRIM22@p.K93N 1 0.413043478 ENSG00000132274 chr11:5696511-5696511;G/T missense_variant False TRIM22@p.E422Q 1 0.191780822 ENSG00000132274 chr11:5709415-5709415;G/C missense_variant False TRIM22@p.D29H 1 0.181818182 ENSG00000132274 chr11:5696317-5696317;G/C missense_variant False TRIM21@p.R64W 1 0.571428571 ENSG00000132109 chr11:4390220-4390220;G/A missense_variant False TRIM21@p.E97Q 1 0.210526316 ENSG00000132109 chr11:4390121-4390121;C/G missense_variant False TRIM21@p.E255Q 1 0.545454545 ENSG00000132109 chr11:4386253-4386253;C/G missense_variant False TRIM16@p.E432K 1 0.454545455 ENSG00000221926 chr17:15629016-15629016;C/T missense_variant False TRIM21@p.E204K 1 0.183823529 ENSG00000132109 chr11:4388425-4388425;C/T missense_variant False TRIM17@p.Q286H 1 0.060240964 ENSG00000162931 chr1:228409197-228409197;C/G missense_variant False TRIM17@p.P284S 1 0.216494845 ENSG00000162931 chr1:228409205-228409205;G/A missense_variant False TRIM17@p.G327R 1 0.115384615 ENSG00000162931 chr1:228408656-228408656;C/T missense_variant False TRIM16L@p.P81R 1 0.266666667 ENSG00000291110 chr17:18731110-18731110;C/G missense_variant False TRIM16L@p.K113N 1 0.300970874 ENSG00000291110 chr17:18731207-18731207;G/T missense_variant False TRIM23@p.H398D 1 0.454545455 ENSG00000113595 chr5:65597168-65597168;G/C missense_variant False TRIM23@p.L48V 1 0.228571429 ENSG00000113595 chr5:65618195-65618195;G/C missense_variant False TRIM23@p.Q382K 1 0.233333333 ENSG00000113595 chr5:65604946-65604946;G/T missense_variant False TRIM23@p.S151F 1 0.375 ENSG00000113595 chr5:65611796-65611796;G/A missense_variant False TRIM24@p.C187S 1 0.147727273 ENSG00000122779 chr7:138515287-138515287;T/A missense_variant False TRIM24@p.D781N 1 0.138686131 ENSG00000122779 chr7:138579288-138579288;G/A missense_variant False TRIM24@p.D872H 1 0.099378882 ENSG00000122779 chr7:138580590-138580590;G/C missense_variant False TRIM24@p.E150K 1 0.157894737 ENSG00000122779 chr7:138504373-138504373;G/A missense_variant False TRIM24@p.E994Q 1 0.25 ENSG00000122779 chr7:138584778-138584778;G/C missense_variant False TRIM24@p.H226Y 1 0.289855072 ENSG00000122779 chr7:138519233-138519233;C/T missense_variant False TRIM24@p.M340I 1 0.290123457 ENSG00000122779 chr7:138538680-138538680;G/A missense_variant False TRIM24@p.M498V 1 0.511627907 ENSG00000122779 chr7:138554928-138554928;A/G missense_variant False TRIM24@p.Q64R 1 1.0 ENSG00000122779 chr7:138460739-138460739;A/G missense_variant False TRIM24@p.R1046C 1 0.197183099 ENSG00000122779 chr7:138584934-138584934;C/T missense_variant False TRIM24@p.R721Q 1 0.447368421 ENSG00000122779 chr7:138577494-138577494;G/A missense_variant False TRIM25@p.A594D 1 0.464285714 ENSG00000121060 chr17:56891812-56891812;G/T missense_variant False TRIM25@p.G215A 1 0.409090909 ENSG00000121060 chr17:56908517-56908517;C/G missense_variant False TRIM16L@p.F260I 1 0.148148148 ENSG00000291110 chr17:18735191-18735191;T/A missense_variant False TRIM15@p.R37W 1 0.35 ENSG00000204610 chr6:30163793-30163793;C/T missense_variant False TRIM25@p.S97F 1 0.8125 ENSG00000121060 chr17:56913699-56913699;G/A missense_variant False TRIB2@p.V249M 1 0.603174603 ENSG00000071575 chr2:12740507-12740507;G/A missense_variant False TRIL@p.D416N 1 0.242424242 ENSG00000255690 chr7:28956801-28956801;C/T missense_variant False TRIB3@p.V208M 1 0.52173913 ENSG00000101255 chr20:396235-396235;G/A missense_variant False TRIB3@p.T307Qfs*16 1 0.164556962 ENSG00000101255 chr20:396530-396530;C/- frameshift_variant False TRIB3@p.S206F 1 0.176470588 ENSG00000101255 chr20:396230-396230;C/T missense_variant False TRIB3@p.L329V 1 0.328571429 ENSG00000101255 chr20:396598-396598;C/G missense_variant False TRIB3@p.E302K 1 0.148760331 ENSG00000101255 chr20:396517-396517;G/A missense_variant False TRIB2@p.S38G 1 0.326530612 ENSG00000071575 chr2:12718419-12718419;A/G missense_variant False TRIM15@p.E143K 1 0.089552239 ENSG00000204610 chr6:30167221-30167221;G/A missense_variant False TRIB2@p.P46L 1 0.108695652 ENSG00000071575 chr2:12718444-12718444;C/T missense_variant False TRIB2@p.L284P 1 0.130434783 ENSG00000071575 chr2:12740613-12740613;T/C missense_variant False TRIB2@p.E186K 1 0.465517241 ENSG00000071575 chr2:12723545-12723545;G/A missense_variant False TRIAP1@p.E25K 1 0.388059701 ENSG00000170855 chr12:120446300-120446300;C/T missense_variant False TRHR@p.Y200H 1 0.34939759 ENSG00000174417 chr8:109088110-109088110;T/C missense_variant False TRHR@p.T28I 1 0.426470588 ENSG00000174417 chr8:109087595-109087595;C/T missense_variant False TRIL@p.S237L 1 0.097938144 ENSG00000255690 chr7:28957337-28957337;G/A missense_variant False TRIM10@p.E244G 1 0.154676259 ENSG00000204613 chr6:30158424-30158424;T/C missense_variant False TRIM10@p.F444L 1 0.152173913 ENSG00000204613 chr6:30154083-30154083;G/C missense_variant False TRIM10@p.P466T 1 0.22 ENSG00000204613 chr6:30154019-30154019;G/T missense_variant False TRIM10@p.V79M 1 0.460992908 ENSG00000204613 chr6:30160624-30160624;C/T missense_variant False TRIM11@p.D422N 1 0.193548387 ENSG00000154370 chr1:228394848-228394848;C/T missense_variant False TRIM11@p.D5N 1 0.375 ENSG00000154370 chr1:228406549-228406549;C/T missense_variant False TRIM11@p.R184C 1 0.230769231 ENSG00000154370 chr1:228401149-228401149;G/A missense_variant False TRIM13@p.D216H 1 0.183673469 ENSG00000204977 chr13:50012586-50012586;G/C missense_variant False TRIM13@p.E199K 1 0.390243902 ENSG00000204977 chr13:50012535-50012535;G/A missense_variant False TRIM13@p.E366Q 1 0.165137615 ENSG00000204977 chr13:50013036-50013036;G/C missense_variant False TRIM13@p.F128L 1 0.282051282 ENSG00000204977 chr13:50012324-50012324;C/G missense_variant False TRIM13@p.Q301E 1 0.120930233 ENSG00000204977 chr13:50012841-50012841;C/G missense_variant False TRIM13@p.S15G 1 0.231343284 ENSG00000204977 chr13:50011983-50011983;A/G missense_variant False TRIM14@p.R314C 1 0.4 ENSG00000106785 chr9:98087859-98087859;G/A missense_variant False TRIM14@p.T288K 1 0.272727273 ENSG00000106785 chr9:98087936-98087936;G/T missense_variant False TRIM15@p.A286V 1 0.119496855 ENSG00000204610 chr6:30170985-30170985;C/T missense_variant False TRIM25@p.Q486E 1 0.37804878 ENSG00000121060 chr17:56892137-56892137;G/C missense_variant False TRIM26@p.E222K 1 0.102941176 ENSG00000234127 chr6:30196617-30196617;C/T missense_variant False TRIM42@p.Y44C 1 0.107954545 ENSG00000155890 chr3:140678360-140678360;A/G missense_variant False TRIM37@p.S239C 1 0.345679012 ENSG00000108395 chr17:59070916-59070916;G/C missense_variant False TRIM39-RPP21@p.E492K 1 0.158227848 ENSG00000248167 chr6:30346772-30346772;G/A missense_variant False TRIM38@p.L128F 1 0.104166667 ENSG00000112343 chr6:25966904-25966904;C/T missense_variant False TRIM38@p.D282N 1 0.821428571 ENSG00000112343 chr6:25973255-25973255;G/A missense_variant False TRIM38@p.C59S 1 0.214285714 ENSG00000112343 chr6:25966698-25966698;G/C missense_variant False TRIM37@p.S743L 1 0.293478261 ENSG00000108395 chr17:59028444-59028444;G/A missense_variant False TRIM37@p.S332L 1 0.195652174 ENSG00000108395 chr17:59061056-59061056;G/A missense_variant False TRIM37@p.R640C 1 0.279279279 ENSG00000108395 chr17:59031926-59031926;G/A missense_variant False TRIM36@p.K473E 1 0.278688525 ENSG00000152503 chr5:115133977-115133977;T/C missense_variant False TRIM37@p.P263S 1 0.2 ENSG00000108395 chr17:59070845-59070845;G/A missense_variant False TRIM37@p.M189I 1 0.483516484 ENSG00000108395 chr17:59079803-59079803;C/G missense_variant False TRIM37@p.I40V 1 0.25 ENSG00000108395 chr17:59104298-59104298;T/C missense_variant False TRIM37@p.G305V 1 0.065217391 ENSG00000108395 chr17:59062595-59062595;C/A missense_variant False TRIM37@p.A472V 1 0.252631579 ENSG00000108395 chr17:59049293-59049293;G/A missense_variant False TRIM36@p.L660I 1 0.347826087 ENSG00000152503 chr5:115126712-115126712;G/T missense_variant False TRIM39@p.E363D 1 0.173913043 ENSG00000204599 chr6:30341791-30341791;G/C missense_variant False TRIM39@p.E61Q 1 0.203947368 ENSG00000204599 chr6:30329498-30329498;G/C missense_variant False TRIM39@p.L127F 1 0.1 ENSG00000204599 chr6:30329698-30329698;G/C missense_variant False TRIM39@p.R365K 1 0.384615385 ENSG00000204599 chr6:30341796-30341796;G/A missense_variant False TRIM39@p.R76H 1 0.261904762 ENSG00000204599 chr6:30329544-30329544;G/A missense_variant False TRIM3@p.D153E 1 0.325581395 ENSG00000110171 chr11:6457752-6457752;A/T missense_variant False TRIM3@p.E711K 1 0.3125 ENSG00000110171 chr11:6449132-6449132;C/T missense_variant False TRIM3@p.N544S 1 0.317073171 ENSG00000110171 chr11:6451341-6451341;T/C missense_variant False TRIM40@p.Q201K 1 0.341880342 ENSG00000204614 chr6:30147144-30147144;C/A missense_variant False TRIM41@p.A599T 1 0.308943089 ENSG00000146063 chr5:181234677-181234677;G/A missense_variant False TRIM41@p.R458W 1 0.12962963 ENSG00000146063 chr5:181234254-181234254;C/T missense_variant False TRIM42@p.A71V 1 0.436170213 ENSG00000155890 chr3:140678441-140678441;C/T missense_variant False TRIM42@p.D125H 1 0.1 ENSG00000155890 chr3:140682493-140682493;G/C missense_variant False TRIM42@p.E283K 1 0.619047619 ENSG00000155890 chr3:140682967-140682967;G/A missense_variant False TRIM42@p.M5L 1 0.138392857 ENSG00000155890 chr3:140678242-140678242;A/T missense_variant False TRIM42@p.Q397H 1 0.115384615 ENSG00000155890 chr3:140687873-140687873;G/C missense_variant False TRIM42@p.W623C 1 0.3 ENSG00000155890 chr3:140690976-140690976;G/C missense_variant False TRIM36@p.L318F 1 0.347457627 ENSG00000152503 chr5:115137530-115137530;C/G missense_variant False TRIM36@p.E613K 1 0.393442623 ENSG00000152503 chr5:115126853-115126853;C/T missense_variant False TRIM27@p.A167T 1 0.163934426 ENSG00000204713 chr6:28921909-28921909;C/T missense_variant False TRIM29@p.F302L 1 0.263157895 ENSG00000137699 chr11:120127564-120127564;G/C missense_variant False TRIM2@p.S102Y 1 0.391304348 ENSG00000109654 chr4:153276063-153276063;C/A missense_variant False TRIM2@p.R615Q 1 0.294871795 ENSG00000109654 chr4:153322790-153322790;G/A missense_variant False TRIM2@p.P441L 1 0.443037975 ENSG00000109654 chr4:153295929-153295929;C/T missense_variant False TRIM2@p.G681R 1 0.299065421 ENSG00000109654 chr4:153328629-153328629;G/A missense_variant False TRIM29@p.S23L 1 0.136363636 ENSG00000137699 chr11:120137964-120137964;G/A missense_variant False TRIM29@p.F574L 1 0.244897959 ENSG00000137699 chr11:120112459-120112459;G/C missense_variant False TRIM28@p.M378I 1 0.064935065 ENSG00000130726 chr19:58548326-58548326;G/A missense_variant False TRIM36@p.E460Q 1 0.138461538 ENSG00000152503 chr5:115134016-115134016;C/G missense_variant False TRIM28@p.M303I 1 0.504950495 ENSG00000130726 chr19:58547861-58547861;G/A missense_variant False TRIM28@p.E583K 1 0.12745098 ENSG00000130726 chr19:58549415-58549415;G/A missense_variant False TRIM28@p.A349T 1 0.264367816 ENSG00000130726 chr19:58548124-58548124;G/A missense_variant False TRIM27@p.K297N 1 0.387096774 ENSG00000204713 chr6:28908836-28908836;T/G missense_variant False TRIM27@p.G378E 1 0.166666667 ENSG00000204713 chr6:28904479-28904479;C/T missense_variant False TRIM27@p.G252R 1 0.317460317 ENSG00000204713 chr6:28911712-28911712;C/T missense_variant False TRIM2@p.S164L 1 0.136363636 ENSG00000109654 chr4:153293100-153293100;C/T missense_variant False TRIM2@p.T537I 1 0.081967213 ENSG00000109654 chr4:153315908-153315908;C/T missense_variant False TRIM31@p.D30N 1 0.325581395 ENSG00000204616 chr6:30112718-30112718;C/T missense_variant False TRIM31@p.G348R 1 0.24537037 ENSG00000204616 chr6:30103772-30103772;C/T missense_variant False TRIM31@p.S340C 1 0.24375 ENSG00000204616 chr6:30104107-30104107;G/C missense_variant False TRIM32@p.C618Y 1 0.327586207 ENSG00000119401 chr9:116699595-116699595;G/A missense_variant False TRIM32@p.D558N 1 0.636363636 ENSG00000119401 chr9:116699414-116699414;G/A missense_variant False TRIM32@p.E232K 1 0.373134328 ENSG00000119401 chr9:116698436-116698436;G/A missense_variant False TRIM32@p.L73F 1 0.259259259 ENSG00000119401 chr9:116697961-116697961;G/C missense_variant False TRIM32@p.R101Q 1 0.253968254 ENSG00000119401 chr9:116698044-116698044;G/A missense_variant False TRIM33@p.D1022H 1 0.164285714 ENSG00000197323 chr1:114399513-114399513;C/G missense_variant False TRIM33@p.D1050H 1 0.150197628 ENSG00000197323 chr1:114397963-114397963;C/G missense_variant False TRIM33@p.G578R 1 0.439393939 ENSG00000197323 chr1:114424719-114424719;C/G missense_variant False TRIM33@p.Q317E 1 0.307692308 ENSG00000197323 chr1:114433708-114433708;G/C missense_variant False TRIM33@p.V387L 1 0.065789474 ENSG00000197323 chr1:114427891-114427891;C/G missense_variant False TRIM35@p.F15L 1 0.461538462 ENSG00000104228 chr8:27311191-27311191;G/C missense_variant False TRIM36@p.A378T 1 0.216216216 ENSG00000152503 chr5:115137114-115137114;C/T missense_variant False TRABD2A@p.G24R 1 0.375 ENSG00000186854 chr2:84880970-84880970;C/T missense_variant False TRABD2A@p.G158E 1 0.236686391 ENSG00000186854 chr2:84870421-84870421;C/T missense_variant False TRA2B@p.R65Q 1 0.23880597 ENSG00000136527 chr3:185925603-185925603;C/T missense_variant False TOP1@p.P225L 1 0.24137931 ENSG00000198900 chr20:41092531-41092531;C/T missense_variant False TOP1MT@p.E528D 1 0.952380952 ENSG00000184428 chr8:143310187-143310187;C/A missense_variant False TOP1MT@p.E126K 1 0.141791045 ENSG00000184428 chr8:143326329-143326329;C/T missense_variant False TOP1MT@p.D101N 1 0.110344828 ENSG00000184428 chr8:143329409-143329409;C/T missense_variant False TOP1@p.R434Q 1 0.090909091 ENSG00000198900 chr20:41101346-41101346;G/A missense_variant False TOP1@p.R376Q 1 0.464285714 ENSG00000198900 chr20:41100207-41100207;G/A missense_variant False TOP1@p.Q115H 1 0.191780822 ENSG00000198900 chr20:41080094-41080094;A/T missense_variant False TOP1@p.M644L 1 0.405172414 ENSG00000198900 chr20:41118276-41118276;A/T missense_variant False TOP1MT@p.Q533H 1 0.148148148 ENSG00000184428 chr8:143310172-143310172;C/G missense_variant False TOP1@p.E438K 1 0.117647059 ENSG00000198900 chr20:41112785-41112785;G/A missense_variant False TONSL@p.R543S 1 0.209302326 ENSG00000160949 chr8:144438497-144438497;G/T missense_variant False TONSL@p.I282M 1 0.238095238 ENSG00000160949 chr8:144442056-144442056;G/C missense_variant False TONSL@p.F202_T210del 1 0.4 ENSG00000160949 chr8:144442362-144442388;GTGCCCAGGTTGTAGCGGGCGCGGAAT/- inframe_deletion False TONSL@p.E837K 1 0.321428571 ENSG00000160949 chr8:144435924-144435924;C/T missense_variant False TONSL@p.E1089K 1 0.19047619 ENSG00000160949 chr8:144434100-144434100;C/T missense_variant False TOP1MT@p.H102D 1 0.071428571 ENSG00000184428 chr8:143329406-143329406;G/C missense_variant False TOP1MT@p.R311W 1 0.56779661 ENSG00000184428 chr8:143324028-143324028;G/A missense_variant False TOX@p.A15V 1 0.184615385 ENSG00000198846 chr8:59118944-59118944;G/A missense_variant False TOP2A@p.R532C 1 0.307692308 ENSG00000131747 chr17:40407581-40407581;G/A missense_variant False TOP2B@p.R53K 1 0.28125 ENSG00000077097 chr3:25645382-25645382;C/T missense_variant False TOP2B@p.E593Q 1 0.306666667 ENSG00000077097 chr3:25629058-25629058;C/G missense_variant False TOP2B@p.D1578N 1 0.529411765 ENSG00000077097 chr3:25598456-25598456;C/T missense_variant False TOP2A@p.T955A 1 0.433333333 ENSG00000131747 chr17:40400346-40400346;T/C missense_variant False TOP2A@p.S1483L 1 0.285714286 ENSG00000131747 chr17:40389984-40389984;G/A missense_variant False TOP2A@p.S1045Y 1 0.25 ENSG00000131747 chr17:40399934-40399934;G/T missense_variant False TOP2A@p.R478T 1 0.328358209 ENSG00000131747 chr17:40408034-40408034;C/G missense_variant False TOP2A@p.D339N 1 0.170483461 ENSG00000131747 chr17:40411404-40411404;C/T missense_variant False TOP2A@p.L44V 1 0.151685393 ENSG00000131747 chr17:40416787-40416787;A/C missense_variant False TOP2A@p.I490Nfs*10 1 0.198347107 ENSG00000131747 chr17:40407998-40407999;-/T frameshift_variant False TOP2A@p.E1368Q 1 0.244444444 ENSG00000131747 chr17:40392098-40392098;C/G missense_variant False TOP2A@p.E1245K 1 0.140350877 ENSG00000131747 chr17:40395527-40395527;C/T missense_variant False TOP2A@p.E1232K 1 0.217391304 ENSG00000131747 chr17:40396309-40396309;C/T missense_variant False TOP2A@p.D697Y 1 0.285714286 ENSG00000131747 chr17:40404449-40404449;C/A missense_variant False TOMM70@p.V355L 1 0.045454545 ENSG00000154174 chr3:100377734-100377734;C/G missense_variant False TOMM70@p.V355A 1 0.044692737 ENSG00000154174 chr3:100377733-100377733;A/G missense_variant False TOMM70@p.Q491del 1 0.189189189 ENSG00000154174 chr3:100369116-100369118;TGT/- inframe_deletion False TOM1L1@p.L317I 1 0.097345133 ENSG00000141198 chr17:54937142-54937142;C/A missense_variant False TOM1L2@p.L159V 1 0.301369863 ENSG00000175662 chr17:17884660-17884660;G/C missense_variant False TOM1L2@p.F299L 1 0.261538462 ENSG00000175662 chr17:17869354-17869354;G/T missense_variant False TOM1L2@p.E75K 1 0.14516129 ENSG00000175662 chr17:17893804-17893804;C/T missense_variant False TOM1L2@p.E458Q 1 0.15625 ENSG00000175662 chr17:17848826-17848826;C/G missense_variant False TOM1L2@p.A430V 1 0.098765432 ENSG00000175662 chr17:17850942-17850942;G/A missense_variant False TOM1L1@p.S177F 1 0.23030303 ENSG00000141198 chr17:54914670-54914670;C/T missense_variant False TOM1L1@p.I38M 1 0.15625 ENSG00000141198 chr17:54903763-54903763;C/G missense_variant False TOMM70@p.L227F 1 0.314606742 ENSG00000154174 chr3:100384533-100384533;T/A missense_variant False TOM1L1@p.E231Q 1 0.141176471 ENSG00000141198 chr17:54915833-54915833;G/C missense_variant False TOM1L1@p.D352H 1 0.627118644 ENSG00000141198 chr17:54938944-54938944;G/C missense_variant False TOM1@p.P109T 1 0.11627907 ENSG00000100284 chr22:35323136-35323136;C/A missense_variant False TOM1@p.E252K 1 0.153846154 ENSG00000100284 chr22:35327376-35327376;G/A missense_variant False TOM1@p.E236Q 1 0.20754717 ENSG00000100284 chr22:35327328-35327328;G/C missense_variant False TOM1@p.A396T 1 0.615384615 ENSG00000100284 chr22:35338750-35338750;G/A missense_variant False TOM1L2@p.P203L 1 0.27027027 ENSG00000175662 chr17:17882757-17882757;G/A missense_variant False TOM1L2@p.R271C 1 0.146341463 ENSG00000175662 chr17:17869440-17869440;G/A missense_variant False TOM1L2@p.S394C 1 0.15037594 ENSG00000175662 chr17:17862752-17862752;G/C missense_variant False TOMM20@p.G89S 1 0.308641975 ENSG00000173726 chr1:235113896-235113896;C/T missense_variant False TOMM20@p.Q137H 1 0.153846154 ENSG00000173726 chr1:235112091-235112091;C/G missense_variant False TOMM20L@p.E124K 1 0.315068493 ENSG00000196860 chr14:58407433-58407433;G/A missense_variant False TOMM34@p.E202Q 1 0.140350877 ENSG00000025772 chr20:44948824-44948824;C/G missense_variant False TOMM34@p.P296H 1 0.140127389 ENSG00000025772 chr20:44943152-44943152;G/T missense_variant False TOMM34@p.R57P 1 0.432098765 ENSG00000025772 chr20:44956443-44956443;C/G missense_variant False TOMM34@p.S146L 1 0.181434599 ENSG00000025772 chr20:44951946-44951946;G/A missense_variant False TOMM40@p.T123P 1 0.206896552 ENSG00000130204 chr19:44892861-44892861;A/C missense_variant False TOMM40L@p.D145N 1 0.137254902 ENSG00000158882 chr1:161227938-161227938;G/A missense_variant False TOMM40L@p.N53del 1 0.15 ENSG00000158882 chr1:161226928-161226930;CAA/- inframe_deletion False TOMM70@p.D267N 1 0.102564103 ENSG00000154174 chr3:100381700-100381700;C/T missense_variant False TOMM70@p.D496H 1 0.215909091 ENSG00000154174 chr3:100369102-100369102;C/G missense_variant False TOMM70@p.D73N 1 0.4 ENSG00000154174 chr3:100400733-100400733;C/T missense_variant False TOMM70@p.E139K 1 0.184615385 ENSG00000154174 chr3:100386888-100386888;C/T missense_variant False TOP3A@p.C873F 1 0.508333333 ENSG00000177302 chr17:18277884-18277884;C/A missense_variant False TOP3A@p.D51E 1 0.257575758 ENSG00000177302 chr17:18314626-18314626;G/C missense_variant False TOP3A@p.D583N 1 0.215189873 ENSG00000177302 chr17:18285272-18285272;C/T missense_variant False TOR1AIP2@p.Q92E 1 0.26 ENSG00000169905 chr1:179851124-179851124;G/C missense_variant False TOR3A@p.T200P 1 0.486486486 ENSG00000186283 chr1:179085852-179085852;A/C missense_variant False TOR3A@p.F197L 1 0.211538462 ENSG00000186283 chr1:179085845-179085845;C/G missense_variant False TOR3A@p.E79K 1 0.5 ENSG00000186283 chr1:179082363-179082363;G/A missense_variant False TOR3A@p.D210N 1 0.203703704 ENSG00000186283 chr1:179085882-179085882;G/A missense_variant False TOR1B@p.A19V 1 0.285714286 ENSG00000136816 chr9:129803268-129803268;C/T missense_variant False TOR1AIP2@p.S22L 1 0.319148936 ENSG00000169905 chr1:179851333-179851333;G/A missense_variant False TOR1AIP2@p.P293A 1 0.300813008 ENSG00000169905 chr1:179846607-179846607;G/C missense_variant False TOR1AIP1@p.E89Q 1 0.085714286 ENSG00000143337 chr1:179882767-179882767;G/C missense_variant False TOR1AIP2@p.K212T 1 0.445945946 ENSG00000169905 chr1:179847555-179847555;T/G missense_variant False TOR1AIP2@p.E89K 1 0.456140351 ENSG00000169905 chr1:179851133-179851133;C/T missense_variant False TOR1AIP1@p.S488F 1 0.191304348 ENSG00000143337 chr1:179917950-179917950;C/T missense_variant False TOR1AIP1@p.R125Q 1 0.08411215 ENSG00000143337 chr1:179882876-179882876;G/A missense_variant False TOR1AIP1@p.Q225E 1 0.134146341 ENSG00000143337 chr1:179901322-179901322;C/G missense_variant False TOR1AIP1@p.G30Afs*28 1 0.161290323 ENSG00000143337 chr1:179882588-179882588;G/- frameshift_variant False TOR4A@p.I360M 1 0.45 ENSG00000198113 chr9:137279769-137279769;C/G missense_variant False TOX2@p.K246N 1 0.085714286 ENSG00000124191 chr20:44054358-44054358;G/C missense_variant False TOX2@p.P202L 1 0.358974359 ENSG00000124191 chr20:44051472-44051472;C/T missense_variant False TOX2@p.P203L 1 0.588235294 ENSG00000124191 chr20:44051475-44051475;C/T missense_variant False TOX2@p.Q120E 1 0.230769231 ENSG00000124191 chr20:44006712-44006712;C/G missense_variant False TOX3@p.I544Sfs*70 1 0.52 ENSG00000103460 chr16:52439327-52439327;G/- frameshift_variant False TOX3@p.K247N 1 0.067510549 ENSG00000103460 chr16:52446159-52446159;C/G missense_variant False TOX3@p.P241H 1 0.14 ENSG00000103460 chr16:52446178-52446178;G/T missense_variant False TOX3@p.P244S 1 0.385964912 ENSG00000103460 chr16:52446170-52446170;G/A missense_variant False TOX3@p.P94A 1 0.072727273 ENSG00000103460 chr16:52464062-52464062;G/C missense_variant False TOX3@p.Q396H 1 0.105263158 ENSG00000103460 chr16:52439768-52439768;C/G missense_variant False TOX3@p.Q449H 1 0.148148148 ENSG00000103460 chr16:52439609-52439609;C/A missense_variant False TOX3@p.R531W 1 0.5 ENSG00000103460 chr16:52439365-52439365;G/A missense_variant False TOX3@p.S166F 1 0.185393258 ENSG00000103460 chr16:52450458-52450458;G/A missense_variant False TOX4@p.E530Dfs*8 1 0.070063694 ENSG00000092203 chr14:21493204-21493232;GAGGCACCTTCTCCTGAGACTATCTGTGA/- frameshift_variant False TOX4@p.I493M 1 0.057471264 ENSG00000092203 chr14:21493095-21493095;C/G missense_variant False TOX4@p.S17L 1 0.259259259 ENSG00000092203 chr14:21477539-21477539;C/T missense_variant False TOR1AIP1@p.E97K 1 0.298387097 ENSG00000143337 chr1:179882791-179882791;G/A missense_variant False TOR1AIP1@p.E529Q 1 0.521008403 ENSG00000143337 chr1:179918072-179918072;G/C missense_variant False TOP3A@p.E959Q 1 0.4 ENSG00000177302 chr17:18274933-18274933;C/G missense_variant False TOP3B@p.M631I 1 0.515151515 ENSG00000100038 chr22:21959144-21959144;C/T missense_variant False TOPBP1@p.I1215M 1 0.243243243 ENSG00000163781 chr3:133617274-133617274;G/C missense_variant False TOPBP1@p.H694Y 1 0.307692308 ENSG00000163781 chr3:133640112-133640112;G/A missense_variant False TOPBP1@p.E602K 1 0.336734694 ENSG00000163781 chr3:133644064-133644064;C/T missense_variant False TOPBP1@p.D307N 1 0.186046512 ENSG00000163781 chr3:133653348-133653348;C/T missense_variant False TOP3B@p.R579H 1 0.075342466 ENSG00000100038 chr22:21959655-21959655;C/T missense_variant False TOP3B@p.R149W 1 0.3125 ENSG00000100038 chr22:21970346-21970346;G/A missense_variant False TOP3B@p.E498K 1 0.259259259 ENSG00000100038 chr22:21962462-21962462;C/T missense_variant False TOR1AIP1@p.E161K 1 0.126984127 ENSG00000143337 chr1:179884697-179884697;G/A missense_variant False TOP3B@p.E105K 1 0.59375 ENSG00000100038 chr22:21971948-21971948;C/T missense_variant False TOP3A@p.W486C 1 0.433962264 ENSG00000177302 chr17:18290851-18290851;C/G missense_variant False TOP3A@p.S580C 1 0.84 ENSG00000177302 chr17:18285280-18285280;G/C missense_variant False TOP3A@p.R833Q 1 0.333333333 ENSG00000177302 chr17:18278004-18278004;C/T missense_variant False TOP3A@p.I369V 1 0.346938776 ENSG00000177302 chr17:18292821-18292821;T/C missense_variant False TOP3A@p.E961Q 1 0.171171171 ENSG00000177302 chr17:18274927-18274927;C/G missense_variant False TOPBP1@p.K1044Rfs*12 1 0.333333333 ENSG00000163781 chr3:133623137-133623138;TT/- frameshift_variant False TOPBP1@p.K581R 1 0.440860215 ENSG00000163781 chr3:133644126-133644126;T/C missense_variant False TOPBP1@p.L521F 1 0.189655172 ENSG00000163781 chr3:133644305-133644305;C/G missense_variant False TOPBP1@p.Q1072P 1 0.610169492 ENSG00000163781 chr3:133620311-133620311;T/G missense_variant False TOPBP1@p.Q232H 1 0.355555556 ENSG00000163781 chr3:133655336-133655336;T/A missense_variant False TOPBP1@p.S499F 1 0.236842105 ENSG00000163781 chr3:133649391-133649391;G/A missense_variant False TOPBP1@p.V109E 1 0.272727273 ENSG00000163781 chr3:133657835-133657835;A/T missense_variant False TOPBP1@p.V109I 1 0.272727273 ENSG00000163781 chr3:133657836-133657836;C/T missense_variant False TOPORS@p.D111H 1 0.2 ENSG00000197579 chr9:32544194-32544194;C/G missense_variant False TOPORS@p.D175N 1 0.144736842 ENSG00000197579 chr9:32544002-32544002;C/T missense_variant False TOPORS@p.E1009K 1 0.046511628 ENSG00000197579 chr9:32541500-32541500;C/T missense_variant False TOPORS@p.R673S 1 0.36875 ENSG00000197579 chr9:32542508-32542508;G/T missense_variant False TOPORS@p.S428A 1 0.733333333 ENSG00000197579 chr9:32543243-32543243;A/C missense_variant False TOPORS@p.S501F 1 0.434210526 ENSG00000197579 chr9:32543023-32543023;G/A missense_variant False TOPORS@p.S629Y 1 0.202312139 ENSG00000197579 chr9:32542639-32542639;G/T missense_variant False TOR1AIP1@p.D41N 1 0.181818182 ENSG00000143337 chr1:179882623-179882623;G/A missense_variant False TOR1AIP1@p.D505H 1 0.049382716 ENSG00000143337 chr1:179918000-179918000;G/C missense_variant False TOLLIP@p.T88M 1 0.178571429 ENSG00000078902 chr11:1290330-1290330;G/A missense_variant False TOLLIP@p.R257Q 1 0.140271493 ENSG00000078902 chr11:1277094-1277094;C/T missense_variant False TOLLIP@p.E231G 1 0.08045977 ENSG00000078902 chr11:1277172-1277172;T/C missense_variant False TNRC6C@p.T647I 1 0.461538462 ENSG00000078687 chr17:78051002-78051002;C/T missense_variant False TNS1@p.G78S 1 0.169811321 ENSG00000079308 chr2:217893549-217893549;C/T missense_variant False TNS1@p.F1639L 1 0.25 ENSG00000079308 chr2:217809867-217809867;G/C missense_variant False TNS1@p.E954K 1 0.770491803 ENSG00000079308 chr2:217835136-217835136;C/T missense_variant False TNS1@p.E883K 1 0.237288136 ENSG00000079308 chr2:217836197-217836197;C/T missense_variant False TNS1@p.E42D 1 0.41025641 ENSG00000079308 chr2:217897840-217897840;C/G missense_variant False TNS1@p.A887T 1 0.117647059 ENSG00000079308 chr2:217836185-217836185;C/T missense_variant False TNRC6C@p.S1443L 1 0.419354839 ENSG00000078687 chr17:78098364-78098364;C/T missense_variant False TNRC6B@p.S1031F 1 0.4 ENSG00000100354 chr22:40273551-40273551;C/T missense_variant False TNRC6C@p.S1378L 1 0.095890411 ENSG00000078687 chr17:78093095-78093095;C/T missense_variant False TNRC6C@p.M498I 1 0.375 ENSG00000078687 chr17:78050556-78050556;G/A missense_variant False TNRC6C@p.H1147Y 1 0.529411765 ENSG00000078687 chr17:78083128-78083128;C/T missense_variant False TNRC6C@p.G264V 1 0.12295082 ENSG00000078687 chr17:78049853-78049853;G/T missense_variant False TNRC6C@p.D620H 1 0.373737374 ENSG00000078687 chr17:78050920-78050920;G/C missense_variant False TNRC6C@p.D525E 1 0.173076923 ENSG00000078687 chr17:78050637-78050637;C/A missense_variant False TNS1@p.I23M 1 0.333333333 ENSG00000079308 chr2:217897897-217897897;G/C missense_variant False TNS1@p.K884E 1 0.164179104 ENSG00000079308 chr2:217836194-217836194;T/C missense_variant False TNS1@p.L647Tfs*49 1 0.151515152 ENSG00000079308 chr2:217848204-217848205;-/C frameshift_variant False TNS1@p.P840S 1 0.117647059 ENSG00000079308 chr2:217847624-217847624;G/A missense_variant False TNS1@p.Q1179E 1 0.125 ENSG00000079308 chr2:217818485-217818485;G/C missense_variant False TNS1@p.Q1255K 1 0.105263158 ENSG00000079308 chr2:217818257-217818257;G/T missense_variant False TNS1@p.R335C 1 0.097560976 ENSG00000079308 chr2:217880949-217880949;G/A missense_variant False TNS1@p.S520P 1 0.195121951 ENSG00000079308 chr2:217848584-217848584;A/G missense_variant False TNS1@p.S752F 1 0.366666667 ENSG00000079308 chr2:217847887-217847887;G/A missense_variant False TNS1@p.S849L 1 0.282758621 ENSG00000079308 chr2:217847596-217847596;G/A missense_variant False TNS1@p.S967C 1 0.769230769 ENSG00000079308 chr2:217835097-217835097;T/A missense_variant False TNS2@p.D751N 1 0.282051282 ENSG00000111077 chr12:53059892-53059892;G/A missense_variant False TNS2@p.E180K 1 0.49122807 ENSG00000111077 chr12:53055201-53055201;G/A missense_variant False TNS2@p.E275Q 1 0.909090909 ENSG00000111077 chr12:53057074-53057074;G/C missense_variant False TNS2@p.E922G 1 0.136363636 ENSG00000111077 chr12:53060552-53060552;A/G missense_variant False TNS2@p.R17K 1 0.277777778 ENSG00000111077 chr12:53050235-53050235;G/A missense_variant False TNS2@p.R296T 1 0.81372549 ENSG00000111077 chr12:53057608-53057608;G/C missense_variant False TNRC6C@p.A304T 1 0.54 ENSG00000078687 chr17:78049972-78049972;G/A missense_variant False TNRC6B@p.Q541E 1 0.168674699 ENSG00000100354 chr22:40265851-40265851;C/G missense_variant False TNS3@p.D1140Y 1 0.125 ENSG00000136205 chr7:47302989-47302989;C/A missense_variant False TNRC18@p.P1173L 1 0.214285714 ENSG00000182095 chr7:5371076-5371076;G/A missense_variant False TNRC6A@p.E1198Q 1 0.384615385 ENSG00000090905 chr16:24797520-24797520;G/C missense_variant False TNRC6A@p.D855N 1 0.355555556 ENSG00000090905 chr16:24791205-24791205;G/A missense_variant False TNRC18@p.T2470Nfs*9 1 0.428571429 ENSG00000182095 chr7:5313482-5313483;-/T frameshift_variant False TNRC18@p.S1812Y 1 0.588235294 ENSG00000182095 chr7:5351854-5351854;G/T missense_variant False TNRC18@p.R2752T 1 0.147826087 ENSG00000182095 chr7:5312636-5312636;C/G missense_variant False TNRC18@p.Q148E 1 0.294117647 ENSG00000182095 chr7:5390530-5390530;G/C missense_variant False TNRC18@p.L2296V 1 0.294117647 ENSG00000182095 chr7:5315125-5315125;G/C missense_variant False TNRC6B@p.Q269E 1 0.101265823 ENSG00000100354 chr22:40265035-40265035;C/G missense_variant False TNRC18@p.E2952K 1 0.4 ENSG00000182095 chr7:5308159-5308159;C/T missense_variant False TNRC18@p.E1375K 1 0.7 ENSG00000182095 chr7:5370471-5370471;C/T missense_variant False TNRC18@p.D706Y 1 0.148148148 ENSG00000182095 chr7:5387708-5387708;C/A missense_variant False TNRC18@p.A520T 1 0.294117647 ENSG00000182095 chr7:5388266-5388266;C/T missense_variant False TNR@p.S516L 1 0.186046512 ENSG00000116147 chr1:175386262-175386262;G/A missense_variant False TNR@p.R683S 1 0.246153846 ENSG00000116147 chr1:175367212-175367212;C/G missense_variant False TNRC6A@p.E1497K 1 0.222222222 ENSG00000090905 chr16:24806733-24806733;G/A missense_variant False TNRC6A@p.E824D 1 0.416666667 ENSG00000090905 chr16:24791114-24791114;G/C missense_variant False TNRC6A@p.N947D 1 0.452380952 ENSG00000090905 chr16:24791481-24791481;A/G missense_variant False TNRC6A@p.Q1264R 1 0.483146067 ENSG00000090905 chr16:24804273-24804273;A/G missense_variant False TNRC6A@p.Q659E 1 0.267605634 ENSG00000090905 chr16:24790617-24790617;C/G missense_variant False TNRC6A@p.R1238Q 1 0.287234043 ENSG00000090905 chr16:24804195-24804195;G/A missense_variant False TNRC6A@p.S1303L 1 0.149425287 ENSG00000090905 chr16:24804775-24804775;C/T missense_variant False TNRC6A@p.S1603C 1 0.428571429 ENSG00000090905 chr16:24815282-24815282;C/G missense_variant False TNRC6A@p.S335F 1 0.43956044 ENSG00000090905 chr16:24789646-24789646;C/T missense_variant False TNRC6A@p.S469L 1 0.311111111 ENSG00000090905 chr16:24790048-24790048;C/T missense_variant False TNRC6B@p.D371N 1 0.168831169 ENSG00000100354 chr22:40265341-40265341;G/A missense_variant False TNRC6B@p.E762D 1 0.456140351 ENSG00000100354 chr22:40266516-40266516;A/C missense_variant False TNRC6B@p.G559E 1 0.303030303 ENSG00000100354 chr22:40265906-40265906;G/A missense_variant False TNRC6B@p.G575A 1 0.337349398 ENSG00000100354 chr22:40265954-40265954;G/C missense_variant False TNRC6B@p.K905N 1 0.416666667 ENSG00000100354 chr22:40266945-40266945;G/C missense_variant False TNRC6B@p.P125S 1 0.15 ENSG00000100354 chr22:40262089-40262089;C/T missense_variant False TNRC6B@p.Q1363E 1 0.333333333 ENSG00000100354 chr22:40301300-40301300;C/G missense_variant False TNS2@p.Y369C 1 0.448598131 ENSG00000111077 chr12:53058326-53058326;A/G missense_variant False TNS3@p.D532H 1 0.25 ENSG00000136205 chr7:47369052-47369052;C/G missense_variant False TOGARAM2@p.S486W 1 0.24137931 ENSG00000189350 chr2:29022254-29022254;C/G missense_variant False TOB2@p.E4Q 1 0.342857143 ENSG00000183864 chr22:41437336-41437336;C/G missense_variant False TOGARAM1@p.G1659E 1 0.233333333 ENSG00000198718 chr14:45073374-45073374;G/A missense_variant False TOGARAM1@p.E332K 1 0.288888889 ENSG00000198718 chr14:44963415-44963415;G/A missense_variant False TOGARAM1@p.E111K 1 0.256637168 ENSG00000198718 chr14:44962752-44962752;G/A missense_variant False TOE1@p.S493F 1 0.233333333 ENSG00000132773 chr1:45343647-45343647;C/T missense_variant False TOE1@p.R417T 1 0.101449275 ENSG00000132773 chr1:45343419-45343419;G/C missense_variant False TOE1@p.F270L 1 0.411764706 ENSG00000132773 chr1:45342900-45342900;C/G missense_variant False TOB1@p.S205F 1 0.153061224 ENSG00000141232 chr17:50863404-50863404;G/A missense_variant False TNXB@p.R2733W 1 0.320895522 ENSG00000168477 chr6:32061433-32061433;G/A missense_variant False TOB1@p.P46T 1 0.270718232 ENSG00000141232 chr17:50863882-50863882;G/T missense_variant False TOB1@p.L301F 1 0.474747475 ENSG00000141232 chr17:50863117-50863117;G/A missense_variant False TOB1@p.D95N 1 0.078431373 ENSG00000141232 chr17:50863735-50863735;C/T missense_variant False TOB1@p.D116N 1 0.397435897 ENSG00000141232 chr17:50863672-50863672;C/T missense_variant False TNXB@p.S3864R 1 0.132352941 ENSG00000168477 chr6:32045082-32045082;G/T missense_variant False TNXB@p.S3715Y 1 0.384615385 ENSG00000168477 chr6:32046378-32046378;G/T missense_variant False TOGARAM1@p.G52E 1 0.468085106 ENSG00000198718 chr14:44962576-44962576;G/A missense_variant False TOGARAM1@p.I1018M 1 0.654545455 ENSG00000198718 chr14:45009062-45009062;C/G missense_variant False TOGARAM1@p.N401T 1 0.544642857 ENSG00000198718 chr14:44963623-44963623;A/C missense_variant False TOGARAM1@p.P819R 1 0.433962264 ENSG00000198718 chr14:45004178-45004178;C/G missense_variant False TOGARAM1@p.R142P 1 0.823529412 ENSG00000198718 chr14:44962846-44962846;G/C missense_variant False TOGARAM1@p.R572K 1 0.098039216 ENSG00000198718 chr14:44964136-44964136;G/A missense_variant False TOGARAM1@p.R647Q 1 0.258064516 ENSG00000198718 chr14:44964361-44964361;G/A missense_variant False TOGARAM1@p.S1218F 1 0.369791667 ENSG00000198718 chr14:45028324-45028324;C/T missense_variant False TOGARAM1@p.S1454L 1 0.222222222 ENSG00000198718 chr14:45054510-45054510;C/T missense_variant False TOGARAM1@p.S745C 1 0.112 ENSG00000198718 chr14:44999393-44999393;C/G missense_variant False TOGARAM1@p.S972C 1 0.308823529 ENSG00000198718 chr14:45008923-45008923;C/G missense_variant False TOGARAM1@p.Y307C 1 0.345454545 ENSG00000198718 chr14:44963341-44963341;A/G missense_variant False TOGARAM2@p.A96V 1 0.166666667 ENSG00000189350 chr2:28999328-28999328;C/T missense_variant False TOGARAM2@p.L476F 1 0.322222222 ENSG00000189350 chr2:29022223-29022223;C/T missense_variant False TOGARAM2@p.P1015S 1 0.25 ENSG00000189350 chr2:29052076-29052076;C/T missense_variant False TOGARAM2@p.R897H 1 0.165354331 ENSG00000189350 chr2:29045378-29045378;G/A missense_variant False TOGARAM2@p.S134L 1 0.461538462 ENSG00000189350 chr2:28999442-28999442;C/T missense_variant False TNXB@p.R808T 1 0.428571429 ENSG00000168477 chr6:32089315-32089315;C/G missense_variant False TNXB@p.R2236C 1 0.236111111 ENSG00000168477 chr6:32068645-32068645;G/A missense_variant False TNS3@p.E1100K 1 0.142857143 ENSG00000136205 chr7:47303109-47303109;C/T missense_variant False TNS3@p.S916L 1 0.44 ENSG00000136205 chr7:47304907-47304907;G/A missense_variant False TNXB@p.D2694N 1 0.236842105 ENSG00000168477 chr6:32061550-32061550;C/T missense_variant False TNXB@p.A2212T 1 0.147368421 ENSG00000168477 chr6:32068831-32068831;C/T missense_variant False TNS4@p.S204C 1 0.342857143 ENSG00000131746 chr17:40488798-40488798;G/C missense_variant False TNS4@p.P387A 1 0.534653465 ENSG00000131746 chr17:40487165-40487165;G/C missense_variant False TNS4@p.M439I 1 0.23255814 ENSG00000131746 chr17:40484979-40484979;C/T missense_variant False TNS4@p.A565S 1 0.218181818 ENSG00000131746 chr17:40480748-40480748;C/A missense_variant False TNS3@p.S843L 1 0.285714286 ENSG00000136205 chr7:47344962-47344962;G/A missense_variant False TNXB@p.P3298H 1 0.13592233 ENSG00000168477 chr6:32050285-32050285;G/T missense_variant False TNS3@p.S499L 1 0.163265306 ENSG00000136205 chr7:47369150-47369150;G/A missense_variant False TNS3@p.Q205E 1 0.432926829 ENSG00000136205 chr7:47413971-47413971;G/C missense_variant False TNS3@p.P686R 1 0.133779264 ENSG00000136205 chr7:47368589-47368589;G/C missense_variant False TNS3@p.N465I 1 0.461538462 ENSG00000136205 chr7:47369252-47369252;T/A missense_variant False TNS3@p.G679D 1 0.124463519 ENSG00000136205 chr7:47368610-47368610;C/T missense_variant False TNS3@p.E435Q 1 0.125 ENSG00000136205 chr7:47369343-47369343;C/G missense_variant False TNXB@p.E2258K 1 0.196078431 ENSG00000168477 chr6:32068579-32068579;C/T missense_variant False TNXB@p.E2774K 1 0.181818182 ENSG00000168477 chr6:32058304-32058304;C/T missense_variant False TNXB@p.E2988Q 1 0.140350877 ENSG00000168477 chr6:32056097-32056097;C/G missense_variant False TNXB@p.E3056Q 1 0.095744681 ENSG00000168477 chr6:32055893-32055893;C/G missense_variant False TNXB@p.E3115K 1 0.063829787 ENSG00000168477 chr6:32053577-32053577;C/T missense_variant False TNXB@p.E3272K 1 0.274725275 ENSG00000168477 chr6:32052712-32052712;C/T missense_variant False TNXB@p.G1760R 1 0.25 ENSG00000168477 chr6:32073791-32073791;C/T missense_variant False TNXB@p.G2271A 1 0.296296296 ENSG00000168477 chr6:32068539-32068539;C/G missense_variant False TNXB@p.G2403A 1 0.242857143 ENSG00000168477 chr6:32067738-32067738;C/G missense_variant False TNXB@p.G2927R 1 0.12345679 ENSG00000168477 chr6:32056691-32056691;C/T missense_variant False TNXB@p.H1251_E1252delinsQ 1 0.3 ENSG00000168477 chr6:32085884-32085886;TCA/- inframe_deletion False TNXB@p.K3372N 1 0.23255814 ENSG00000168477 chr6:32050062-32050062;C/G missense_variant False TNXB@p.L3471P 1 0.491803279 ENSG00000168477 chr6:32049356-32049356;A/G missense_variant False TNXB@p.P1248L 1 0.4 ENSG00000168477 chr6:32085896-32085896;G/A missense_variant False TNXB@p.P1266A 1 0.105263158 ENSG00000168477 chr6:32085843-32085843;G/C missense_variant False TNXB@p.P2247H 1 0.228571429 ENSG00000168477 chr6:32068611-32068611;G/T missense_variant False TNXB@p.P2645L 1 0.452830189 ENSG00000168477 chr6:32061696-32061696;G/A missense_variant False TOX4@p.S181I 1 0.135802469 ENSG00000092203 chr14:21488813-21488813;G/T missense_variant False TOX@p.D510N 1 0.318181818 ENSG00000198846 chr8:58808134-58808134;C/T missense_variant False TRA2B@p.R45H 1 0.15625 ENSG00000136527 chr3:185926637-185926637;C/T missense_variant False TPO@p.C286S 1 0.333333333 ENSG00000115705 chr2:1477122-1477122;T/A missense_variant False TPO@p.S747N 1 0.052238806 ENSG00000115705 chr2:1496619-1496619;G/A missense_variant False TPO@p.R25T 1 0.16 ENSG00000115705 chr2:1414482-1414482;G/C missense_variant False TPO@p.R165T 1 0.25 ENSG00000115705 chr2:1453705-1453705;G/C missense_variant False TPO@p.M13I 1 0.157894737 ENSG00000115705 chr2:1414447-1414447;G/A missense_variant False TPO@p.E757K 1 0.348148148 ENSG00000115705 chr2:1496648-1496648;G/A missense_variant False TPO@p.D474E 1 0.470588235 ENSG00000115705 chr2:1484679-1484679;C/A missense_variant False TPO@p.A5V 1 0.52173913 ENSG00000115705 chr2:1414422-1414422;C/T missense_variant False TPO@p.S851F 1 0.291044776 ENSG00000115705 chr2:1516916-1516916;C/T missense_variant False TPO@p.A168T 1 0.217391304 ENSG00000115705 chr2:1453713-1453713;G/A missense_variant False TPMT@p.E114K 1 0.155172414 ENSG00000137364 chr6:18143622-18143622;C/T missense_variant False TPM2@p.E23K 1 0.20754717 ENSG00000198467 chr9:35689751-35689751;C/T missense_variant False TPM2@p.D121N 1 0.410958904 ENSG00000198467 chr9:35685660-35685660;C/T missense_variant False TPM1@p.E224Q 1 0.281818182 ENSG00000140416 chr15:63062245-63062245;G/C missense_variant False TPM1@p.E222Q 1 0.25 ENSG00000140416 chr15:63062239-63062239;G/C missense_variant False TPO@p.S811C 1 0.075471698 ENSG00000115705 chr2:1503993-1503993;C/G missense_variant False TPO@p.V902I 1 0.264150943 ENSG00000115705 chr2:1540679-1540679;G/A missense_variant False TOX@p.E315K 1 0.205882353 ENSG00000198846 chr8:58826884-58826884;C/T missense_variant False TPP2@p.G284E 1 0.24742268 ENSG00000134900 chr13:102627078-102627078;G/A missense_variant False TPP2@p.S221F 1 0.157232704 ENSG00000134900 chr13:102622918-102622918;C/T missense_variant False TPP2@p.L398V 1 0.402298851 ENSG00000134900 chr13:102630143-102630143;C/G missense_variant False TPP2@p.L292I 1 0.4765625 ENSG00000134900 chr13:102627101-102627101;C/A missense_variant False TPP2@p.L1045F 1 0.21875 ENSG00000134900 chr13:102663678-102663678;G/C missense_variant False TPP2@p.H570R 1 0.149253731 ENSG00000134900 chr13:102637112-102637112;A/G missense_variant False TPP2@p.G457E 1 0.225490196 ENSG00000134900 chr13:102634075-102634075;G/A missense_variant False TPP2@p.G1143R 1 0.202380952 ENSG00000134900 chr13:102674377-102674377;G/A missense_variant False TPO@p.W428R 1 0.470588235 ENSG00000115705 chr2:1477548-1477548;T/A missense_variant False TPP2@p.E705Q 1 0.111111111 ENSG00000134900 chr13:102643314-102643314;G/C missense_variant False TPP2@p.E20K 1 0.261904762 ENSG00000134900 chr13:102597096-102597096;G/A missense_variant False TPP2@p.D861H 1 0.075 ENSG00000134900 chr13:102647297-102647297;G/C missense_variant False TPP2@p.D1142N 1 0.383561644 ENSG00000134900 chr13:102674374-102674374;G/A missense_variant False TPP2@p.D1006H 1 0.206896552 ENSG00000134900 chr13:102657119-102657119;G/C missense_variant False TPP1@p.E83Q 1 0.314814815 ENSG00000166340 chr11:6617759-6617759;C/G missense_variant False TPK1@p.S92L 1 0.344 ENSG00000196511 chr7:144623245-144623245;G/A missense_variant False TPK1@p.D175N 1 0.177083333 ENSG00000196511 chr7:144548581-144548581;C/T missense_variant False TPI1@p.S249F 1 0.175 ENSG00000111669 chr12:6870268-6870268;C/T missense_variant False TP73@p.H126Y 1 0.2125 ENSG00000078900 chr1:3707738-3707738;C/T missense_variant False TPCN1@p.E33Q 1 0.431818182 ENSG00000186815 chr12:113226949-113226949;G/C missense_variant False TPBG@p.R402T 1 0.189873418 ENSG00000146242 chr6:82366166-82366166;G/C missense_variant False TPBG@p.L230V 1 0.230769231 ENSG00000146242 chr6:82365649-82365649;C/G missense_variant False TPBG@p.E84K 1 0.46 ENSG00000146242 chr6:82365211-82365211;G/A missense_variant False TPBG@p.D394Y 1 0.252873563 ENSG00000146242 chr6:82366141-82366141;G/T missense_variant False TP73@p.R589C 1 0.333333333 ENSG00000078900 chr1:3732933-3732933;C/T missense_variant False TP73@p.E185Q 1 0.288888889 ENSG00000078900 chr1:3722144-3722144;G/C missense_variant False TPH2@p.W142C 1 0.348214286 ENSG00000139287 chr12:71944464-71944464;G/T missense_variant False TP63@p.T281R 1 0.167785235 ENSG00000073282 chr3:189866757-189866757;C/G missense_variant False TP63@p.S189L 1 0.674074074 ENSG00000073282 chr3:189808513-189808513;C/T missense_variant False TP63@p.R337Q 1 0.28 ENSG00000073282 chr3:189868597-189868597;G/A missense_variant False TP63@p.Q575H 1 0.240384615 ENSG00000073282 chr3:189890861-189890861;G/C missense_variant False TP63@p.Q575E 1 0.295774648 ENSG00000073282 chr3:189890859-189890859;C/G missense_variant False TP63@p.P492A 1 0.098765432 ENSG00000073282 chr3:189886518-189886518;C/G missense_variant False TPCN1@p.E719K 1 0.176470588 ENSG00000186815 chr12:113292975-113292975;G/A missense_variant False TPCN1@p.E82K 1 0.156069364 ENSG00000186815 chr12:113266186-113266186;G/A missense_variant False TPCN1@p.I244M 1 0.382550336 ENSG00000186815 chr12:113269829-113269829;C/G missense_variant False TPCN1@p.L744V 1 0.254545455 ENSG00000186815 chr12:113293050-113293050;C/G missense_variant False TPCN2@p.P102L 1 0.259887006 ENSG00000162341 chr11:69055228-69055228;C/T missense_variant False TPCN2@p.Q314E 1 0.185185185 ENSG00000162341 chr11:69071400-69071400;C/G missense_variant False TPCN2@p.R316W 1 0.227272727 ENSG00000162341 chr11:69071406-69071406;C/T missense_variant False TPD52@p.S140C 1 0.238095238 ENSG00000076554 chr8:80051614-80051614;G/C missense_variant False TPD52L1@p.E61Q 1 0.342465753 ENSG00000111907 chr6:125229163-125229163;G/C missense_variant False TPD52L2@p.E52Q 1 0.088235294 ENSG00000101150 chr20:63869430-63869430;G/C missense_variant False TPD52L2@p.R64H 1 0.490566038 ENSG00000101150 chr20:63873693-63873693;G/A missense_variant False TPD52L3@p.R137I 1 0.428571429 ENSG00000170777 chr9:6329005-6329005;G/T missense_variant False TPGS2@p.S241C 1 0.266666667 ENSG00000134779 chr18:36796986-36796986;G/C missense_variant False TPGS2@p.T188S 1 0.5 ENSG00000134779 chr18:36798543-36798543;G/C missense_variant False TPH1@p.D130H 1 0.185897436 ENSG00000129167 chr11:18033288-18033288;C/G missense_variant False TPH1@p.D138N 1 0.353448276 ENSG00000129167 chr11:18029570-18029570;C/T missense_variant False TPH2@p.E455K 1 0.329113924 ENSG00000139287 chr12:72031585-72031585;G/A missense_variant False TPPP3@p.F87L 1 0.641791045 ENSG00000159713 chr16:67390560-67390560;G/C missense_variant False TPPP@p.A64T 1 0.553571429 ENSG00000171368 chr5:677871-677871;C/T missense_variant False TPPP@p.R13M 1 0.25 ENSG00000171368 chr5:678023-678023;C/A missense_variant False TPTE2@p.F477L 1 0.15 ENSG00000132958 chr13:19424982-19424982;G/T missense_variant False TPTE@p.E45K 1 0.165413534 ENSG00000274391 chr21:10543342-10543342;G/A missense_variant False TPTE@p.D474N 1 0.15 ENSG00000274391 chr21:10602121-10602121;G/A missense_variant False TPTE@p.D329H 1 0.124497992 ENSG00000274391 chr21:10578563-10578563;G/C missense_variant False TPTE2@p.R126G 1 0.102272727 ENSG00000132958 chr13:19473930-19473930;G/C missense_variant False TPTE2@p.N481S 1 0.333333333 ENSG00000132958 chr13:19424971-19424971;T/C missense_variant False TPTE2@p.L390V 1 0.171428571 ENSG00000132958 chr13:19432527-19432527;G/C missense_variant False TPTE2@p.E27K 1 0.194444444 ENSG00000132958 chr13:19492890-19492890;C/T missense_variant False TPSG1@p.R257C 1 0.25 ENSG00000116176 chr16:1221985-1221985;G/A missense_variant False TPT1@p.M160I 1 0.24137931 ENSG00000133112 chr13:45338696-45338696;C/T missense_variant False TPT1@p.E58Q 1 0.216981132 ENSG00000133112 chr13:45340115-45340115;C/G missense_variant False TPT1@p.E55K 1 0.155555556 ENSG00000133112 chr13:45340124-45340124;C/T missense_variant False TPST2@p.D338N 1 0.088495575 ENSG00000128294 chr22:26536317-26536317;C/T missense_variant False TPST1@p.V294L 1 0.24 ENSG00000169902 chr7:66286545-66286545;G/C missense_variant False TPST1@p.R285T 1 0.113207547 ENSG00000169902 chr7:66286519-66286519;G/C missense_variant False TPTE@p.E534D 1 0.067567568 ENSG00000274391 chr21:10605498-10605498;G/C missense_variant False TPTE@p.L237V 1 0.120879121 ENSG00000274391 chr21:10569725-10569725;C/G missense_variant False TPTE@p.R228K 1 0.155487805 ENSG00000274391 chr21:10569699-10569699;G/A missense_variant False TPTE@p.R525S 1 0.101694915 ENSG00000274391 chr21:10605471-10605471;A/T missense_variant False TPTE@p.V145A 1 0.080246914 ENSG00000274391 chr21:10561179-10561179;T/C missense_variant False TPTE@p.V533E 1 0.110169492 ENSG00000274391 chr21:10605494-10605494;T/A missense_variant False TPTE@p.Y290D 1 0.137254902 ENSG00000274391 chr21:10578348-10578348;T/G missense_variant False TPX2@p.E392G 1 0.060344828 ENSG00000088325 chr20:31782369-31782369;A/G missense_variant False TPX2@p.F235L 1 0.097087379 ENSG00000088325 chr20:31775963-31775963;C/G missense_variant False TPX2@p.P370A 1 0.494949495 ENSG00000088325 chr20:31782302-31782302;C/G missense_variant False TPX2@p.Q132H 1 0.326530612 ENSG00000088325 chr20:31770382-31770382;G/C missense_variant False TPX2@p.Q275K 1 0.388235294 ENSG00000088325 chr20:31777579-31777579;C/A missense_variant False TPX2@p.R667K 1 0.063829787 ENSG00000088325 chr20:31798419-31798419;G/A missense_variant False TRA2A@p.M183I 1 0.361702128 ENSG00000164548 chr7:23507512-23507512;C/T missense_variant False TRA2A@p.R97P 1 0.531914894 ENSG00000164548 chr7:23516409-23516409;C/G missense_variant False TRA2B@p.M208I 1 0.385964912 ENSG00000136527 chr3:185922025-185922025;C/T missense_variant False TRA2B@p.R233W 1 0.584158416 ENSG00000136527 chr3:185921129-185921129;G/A missense_variant False TPST1@p.E362Q 1 0.110619469 ENSG00000169902 chr7:66352544-66352544;G/C missense_variant False TPSD1@p.V189I 1 0.482758621 ENSG00000095917 chr16:1258103-1258103;G/A missense_variant False TPPP@p.V137I 1 0.185185185 ENSG00000171368 chr5:666026-666026;C/T missense_variant False TPR@p.Q1063P 1 0.069565217 ENSG00000047410 chr1:186345605-186345605;T/G missense_variant False TPR@p.S637F 1 0.211267606 ENSG00000047410 chr1:186355747-186355747;G/A missense_variant False TPR@p.S534L 1 0.343065693 ENSG00000047410 chr1:186357520-186357520;G/A missense_variant False TPR@p.S296L 1 0.421686747 ENSG00000047410 chr1:186361693-186361693;G/A missense_variant False TPR@p.R768T 1 0.14556962 ENSG00000047410 chr1:186353719-186353719;C/G missense_variant False TPR@p.Q251E 1 0.170212766 ENSG00000047410 chr1:186362326-186362326;G/C missense_variant False TPR@p.Q1162E 1 0.183333333 ENSG00000047410 chr1:186344024-186344024;G/C missense_variant False TPR@p.M1981Wfs*105 1 0.23255814 ENSG00000047410 chr1:186326184-186326184;T/- frameshift_variant False TPSD1@p.G41E 1 0.232142857 ENSG00000095917 chr16:1256555-1256555;G/A missense_variant False TPR@p.L851V 1 0.206349206 ENSG00000047410 chr1:186351389-186351389;G/C missense_variant False TPR@p.H743Y 1 0.116071429 ENSG00000047410 chr1:186353795-186353795;G/A missense_variant False TPR@p.G2120S 1 0.319148936 ENSG00000047410 chr1:186322526-186322526;C/T missense_variant False TPR@p.E330Q 1 0.382352941 ENSG00000047410 chr1:186360876-186360876;C/G missense_variant False TPR@p.E218K 1 0.513513514 ENSG00000047410 chr1:186362881-186362881;C/T missense_variant False TPR@p.A1601V 1 0.157894737 ENSG00000047410 chr1:186335447-186335447;G/A missense_variant False TPR@p.T1039A 1 0.385964912 ENSG00000047410 chr1:186345678-186345678;T/C missense_variant False TPR@p.T114Gfs*6 1 0.409090909 ENSG00000047410 chr1:186367963-186367973;TTTGTTCTTGT/- frameshift_variant False TPR@p.T647A 1 0.347826087 ENSG00000047410 chr1:186355718-186355718;T/C missense_variant False TPR@p.V8D 1 0.375 ENSG00000047410 chr1:186375006-186375006;A/T missense_variant False TPRG1@p.F194L 1 0.507042254 ENSG00000188001 chr3:189310488-189310488;C/A missense_variant False TPRG1@p.L52V 1 0.209923664 ENSG00000188001 chr3:189207538-189207538;C/G missense_variant False TPRG1L@p.A199T 1 0.212903226 ENSG00000158109 chr1:3627624-3627624;G/A missense_variant False TPRG1L@p.D123N 1 0.191489362 ENSG00000158109 chr1:3625786-3625786;G/A missense_variant False TPRKB@p.L93F 1 0.131578947 ENSG00000144034 chr2:73730722-73730722;C/G missense_variant False TPRN@p.F580S 1 0.315789474 ENSG00000176058 chr9:137192678-137192678;A/G missense_variant False TPRN@p.R496P 1 0.179487179 ENSG00000176058 chr9:137199225-137199225;C/G missense_variant False TPRN@p.S418L 1 0.916666667 ENSG00000176058 chr9:137199459-137199459;G/A missense_variant False TPRN@p.S596C 1 0.228571429 ENSG00000176058 chr9:137192630-137192630;G/C missense_variant False TPRX1@p.G35R 1 0.555555556 ENSG00000178928 chr19:47802908-47802908;C/T missense_variant False TPRX1@p.H352D 1 0.11971831 ENSG00000178928 chr19:47801957-47801957;G/C missense_variant False TPSAB1@p.R49T 1 0.322916667 ENSG00000172236 chr16:1241237-1241237;G/C missense_variant False TPSD1@p.E84K 1 0.285714286 ENSG00000095917 chr16:1256683-1256683;G/A missense_variant False TP63@p.M469I 1 0.214285714 ENSG00000073282 chr3:189886451-189886451;G/A missense_variant False TP63@p.K188_A190del 1 0.259259259 ENSG00000073282 chr3:189808506-189808514;GCCAAGTCG/- inframe_deletion False TP63@p.I58T 1 0.216216216 ENSG00000073282 chr3:189737850-189737850;T/C missense_variant False TP53@p.H193Y 1 0.295081967 ENSG00000141510 chr17:7674954-7674954;G/A missense_variant True TP53@p.L22Yfs*22 1 0.357142857 ENSG00000141510 chr17:7676531-7676531;G/- frameshift_variant True TP53@p.L194H 1 0.19047619 ENSG00000141510 chr17:7674950-7674950;A/T missense_variant True TP53@p.L194F 1 0.411764706 ENSG00000141510 chr17:7674951-7674951;G/A missense_variant True TP53@p.L111R 1 0.130434783 ENSG00000141510 chr17:7676037-7676037;A/C missense_variant True TP53@p.K382Nfs*40 1 0.381679389 ENSG00000141510 chr17:7669645-7669645;T/- frameshift_variant True TP53@p.K164Nfs*6 1 0.590909091 ENSG00000141510 chr17:7675120-7675120;C/- frameshift_variant True TP53@p.H193R 1 0.142857143 ENSG00000141510 chr17:7674953-7674953;T/C missense_variant True TP53@p.G199V 1 0.958333333 ENSG00000141510 chr17:7674935-7674935;C/A missense_variant True TP53@p.H179R 1 0.771428571 ENSG00000141510 chr17:7675076-7675076;T/C missense_variant True TP53@p.H178Pfs*3 1 0.285714286 ENSG00000141510 chr17:7675079-7675080;-/G frameshift_variant True TP53@p.G279R 1 0.081081081 ENSG00000141510 chr17:7673785-7673785;C/G missense_variant True TP53@p.G279Pfs*69 1 0.384615385 ENSG00000141510 chr17:7673786-7673787;-/GGACAGGC frameshift_variant True TP53@p.G245D 1 0.590163934 ENSG00000141510 chr17:7674229-7674229;C/T missense_variant True TP53@p.G244D 1 0.93877551 ENSG00000141510 chr17:7674232-7674232;C/T missense_variant True TP53@p.L265P 1 0.294117647 ENSG00000141510 chr17:7673826-7673826;A/G missense_variant True TP53@p.L348Wfs*30 1 0.145454545 ENSG00000141510 chr17:7670652-7670666;CATCCTTGAGTTCCA/TTCC frameshift_variant True TP53@p.L35Ffs*7 1 0.191489362 ENSG00000141510 chr17:7676263-7676264;GC/- frameshift_variant True TP53@p.M169I 1 0.2 ENSG00000141510 chr17:7675105-7675105;C/T missense_variant True TP53@p.M237I 1 0.6875 ENSG00000141510 chr17:7674252-7674252;C/T missense_variant True TP53@p.M246T 1 0.265625 ENSG00000141510 chr17:7674226-7674226;A/G missense_variant True TP53@p.M44Tfs*75 1 0.096590909 ENSG00000141510 chr17:7676226-7676238;TCCGGGGACAGCA/- frameshift_variant True TP53@p.P151A 1 0.177419355 ENSG00000141510 chr17:7675161-7675161;G/C missense_variant True TP53@p.P151H 1 0.757575758 ENSG00000141510 chr17:7675160-7675160;G/T missense_variant True TP53@p.P151S 1 0.358974359 ENSG00000141510 chr17:7675161-7675161;G/A missense_variant True TP53@p.P152L 1 0.857142857 ENSG00000141510 chr17:7675157-7675157;G/A missense_variant True TP53@p.P153Afs*28 1 0.274509804 ENSG00000141510 chr17:7675156-7675157;-/G frameshift_variant True TP53@p.P278L 1 0.44 ENSG00000141510 chr17:7673787-7673787;G/A missense_variant True TP53@p.P278R 1 0.954545455 ENSG00000141510 chr17:7673787-7673787;G/C missense_variant True TP53@p.P301Qfs*44 1 0.42 ENSG00000141510 chr17:7673718-7673718;G/- frameshift_variant True TP53@p.P92Afs*57 1 0.689655172 ENSG00000141510 chr17:7676095-7676096;-/C frameshift_variant True TP53@p.R110L 1 0.265306122 ENSG00000141510 chr17:7676040-7676040;C/A missense_variant True TP53@p.G244C 1 0.728571429 ENSG00000141510 chr17:7674233-7674233;C/A missense_variant True TP53@p.G154Wfs*10 1 0.592592593 ENSG00000141510 chr17:7675135-7675153;GGCGCGGACGCGGGTGCCG/- frameshift_variant True TP53@p.R181H 1 0.3 ENSG00000141510 chr17:7675070-7675070;C/T missense_variant True TP53@p.C135Y 1 0.230769231 ENSG00000141510 chr17:7675208-7675208;C/T missense_variant True TP53@p.C242Y 1 0.833333333 ENSG00000141510 chr17:7674238-7674238;C/T missense_variant True TP53@p.C242F 1 0.166666667 ENSG00000141510 chr17:7674238-7674238;C/A missense_variant True TP53@p.C229Yfs*10 1 0.448979592 ENSG00000141510 chr17:7674276-7674277;AC/- frameshift_variant True TP53@p.C176F 1 0.506024096 ENSG00000141510 chr17:7675085-7675085;C/A missense_variant True TP53@p.C141Y 1 0.887096774 ENSG00000141510 chr17:7675190-7675190;C/T missense_variant True TP53@p.C141Afs*29 1 0.446808511 ENSG00000141510 chr17:7675192-7675192;G/- frameshift_variant True TP53@p.A189Dfs*14 1 0.628571429 ENSG00000141510 chr17:7674949-7674965;AAGATGCTGAGGAGGGG/- frameshift_variant True TP53@p.G154Afs*16 1 0.134328358 ENSG00000141510 chr17:7675153-7675153;G/- frameshift_variant True TP53@p.A161V 1 0.36 ENSG00000141510 chr17:7675130-7675130;G/A missense_variant True TP53@p.A161S 1 0.36 ENSG00000141510 chr17:7675131-7675131;C/A missense_variant True TP53@p.A161Gfs*3 1 0.169491525 ENSG00000141510 chr17:7675112-7675130;TGTGACTGCTTGTAGATGG/- frameshift_variant True TP53@p.A159P 1 0.869565217 ENSG00000141510 chr17:7675137-7675137;C/G missense_variant True TOX@p.R273H 1 0.243243243 ENSG00000198846 chr8:58838187-58838187;C/T missense_variant False TOX@p.K344N 1 0.268518519 ENSG00000198846 chr8:58815698-58815698;C/G missense_variant False TP53@p.C275Y 1 1.0 ENSG00000141510 chr17:7673796-7673796;C/T missense_variant True TP53@p.C277F 1 0.468085106 ENSG00000141510 chr17:7673790-7673790;C/A missense_variant True TP53@p.D148N 1 0.512820513 ENSG00000141510 chr17:7675170-7675170;C/T missense_variant True TP53@p.D208N 1 0.069767442 ENSG00000141510 chr17:7674909-7674909;C/T missense_variant True TP53@p.D228N 1 0.357142857 ENSG00000141510 chr17:7674281-7674281;C/T missense_variant True TP53@p.D259Y 1 0.24137931 ENSG00000141510 chr17:7674188-7674188;C/A missense_variant True TP53@p.D281H 1 0.230769231 ENSG00000141510 chr17:7673779-7673779;C/G missense_variant True TP53@p.E171K 1 0.35483871 ENSG00000141510 chr17:7675101-7675101;C/T missense_variant True TP53@p.E204Q 1 0.352112676 ENSG00000141510 chr17:7674921-7674921;C/G missense_variant True TP53@p.E258K 1 0.666666667 ENSG00000141510 chr17:7674191-7674191;C/T missense_variant True TP53@p.E271Q 1 0.25 ENSG00000141510 chr17:7673809-7673809;C/G missense_variant True TP53@p.E285V 1 0.454545455 ENSG00000141510 chr17:7673766-7673766;T/A missense_variant True TP53@p.E287Q 1 0.909090909 ENSG00000141510 chr17:7673761-7673761;C/G missense_variant True TP53@p.E294Sfs*51 1 0.222222222 ENSG00000141510 chr17:7673747-7673747;C/- frameshift_variant True TP53@p.E336_R337del 1 0.333333333 ENSG00000141510 chr17:7670699-7670704;CGCTCA/- inframe_deletion True TP53@p.G105C 1 0.695652174 ENSG00000141510 chr17:7676056-7676056;C/A missense_variant True TP53@p.G117Dfs*26 1 0.180722892 ENSG00000141510 chr17:7676003-7676019;CACAGACTTGGCTGTCC/- frameshift_variant True TP53@p.R156P 1 0.25 ENSG00000141510 chr17:7675145-7675145;C/G missense_variant True TP53@p.R209Kfs*6 1 0.473684211 ENSG00000141510 chr17:7674904-7674905;TC/- frameshift_variant True TP63@p.E90Q 1 0.288888889 ENSG00000073282 chr3:189738718-189738718;G/C missense_variant False TP53BP2@p.E944K 1 0.443037975 ENSG00000143514 chr1:223793335-223793335;C/T missense_variant False TP53I11@p.L9V 1 0.647058824 ENSG00000175274 chr11:44938311-44938311;G/C missense_variant False TP53BP2@p.S472F 1 0.457142857 ENSG00000143514 chr1:223799969-223799969;G/A missense_variant False TP53BP2@p.R701Q 1 0.472906404 ENSG00000143514 chr1:223796437-223796437;C/T missense_variant False TP53BP2@p.P397H 1 0.202898551 ENSG00000143514 chr1:223802151-223802151;G/T missense_variant False TP53BP2@p.P375L 1 0.112149533 ENSG00000143514 chr1:223802217-223802217;G/A missense_variant False TP53BP2@p.H1003Y 1 0.180327869 ENSG00000143514 chr1:223789164-223789164;G/A missense_variant False TP53BP2@p.E855K 1 0.141732283 ENSG00000143514 chr1:223795976-223795976;C/T missense_variant False TP53BP1@p.R1338K 1 0.307692308 ENSG00000067369 chr15:43421927-43421927;C/T missense_variant False TP53BP2@p.E748K 1 0.290909091 ENSG00000143514 chr1:223796297-223796297;C/T missense_variant False TP53BP2@p.E388K 1 0.521008403 ENSG00000143514 chr1:223802179-223802179;C/T missense_variant False TP53BP2@p.D1097H 1 0.164285714 ENSG00000143514 chr1:223784189-223784189;C/G missense_variant False TP53BP2@p.D1080Y 1 0.081081081 ENSG00000143514 chr1:223784240-223784240;C/A missense_variant False TP53BP1@p.Y1515S 1 0.062790698 ENSG00000067369 chr15:43420427-43420427;T/G missense_variant False TP53BP1@p.T117I 1 0.09478673 ENSG00000067369 chr15:43491675-43491675;G/A missense_variant False TP53I13@p.L13P 1 0.411764706 ENSG00000167543 chr17:29568796-29568796;T/C missense_variant False TP53I13@p.R161T 1 0.085106383 ENSG00000167543 chr17:29572026-29572026;G/C missense_variant False TP53I3@p.E103K 1 0.314285714 ENSG00000115129 chr2:24082984-24082984;C/T missense_variant False TP53I3@p.E29K 1 0.296875 ENSG00000115129 chr2:24084242-24084242;C/T missense_variant False TP53I3@p.E309K 1 0.391566265 ENSG00000115129 chr2:24077653-24077653;C/T missense_variant False TP53I3@p.P55S 1 0.288793103 ENSG00000115129 chr2:24083128-24083128;G/A missense_variant False TP53INP1@p.E51Q 1 0.557894737 ENSG00000164938 chr8:94940182-94940182;C/G missense_variant False TP53INP1@p.E61K 1 0.278688525 ENSG00000164938 chr8:94940152-94940152;C/T missense_variant False TP53INP1@p.E94D 1 0.669724771 ENSG00000164938 chr8:94940051-94940051;C/G missense_variant False TP53INP2@p.D30H 1 0.086956522 ENSG00000078804 chr20:34708827-34708827;G/C missense_variant False TP53INP2@p.I101M 1 0.142857143 ENSG00000078804 chr20:34709414-34709414;C/G missense_variant False TP53TG5@p.E141Q 1 0.227642276 ENSG00000124251 chr20:45375386-45375386;C/G missense_variant False TP53TG5@p.E99Q 1 0.325203252 ENSG00000124251 chr20:45375512-45375512;C/G missense_variant False TP53TG5@p.S230F 1 0.256880734 ENSG00000124251 chr20:45375118-45375118;G/A missense_variant False TP53TG5@p.S75I 1 0.191489362 ENSG00000124251 chr20:45377242-45377242;C/A missense_variant False TP63@p.A554S 1 0.353846154 ENSG00000073282 chr3:189890796-189890796;G/T missense_variant False TP63@p.D16N 1 0.237569061 ENSG00000073282 chr3:189631561-189631561;G/A missense_variant False TP53BP1@p.S888C 1 0.191176471 ENSG00000067369 chr15:43455930-43455930;G/C missense_variant False TP53BP1@p.R1132W 1 0.247191011 ENSG00000067369 chr15:43432460-43432460;G/A missense_variant False TP53@p.R213Dfs*34 1 0.641509434 ENSG00000141510 chr17:7674895-7674895;A/- frameshift_variant True TP53@p.R337S 1 0.242424242 ENSG00000141510 chr17:7670700-7670700;G/T missense_variant True TP53@p.V73Wfs*50 1 0.648648649 ENSG00000141510 chr17:7676153-7676153;G/- frameshift_variant True TP53@p.V143A 1 0.444444444 ENSG00000141510 chr17:7675184-7675184;A/G missense_variant True TP53@p.T377Pfs*44 1 0.11627907 ENSG00000141510 chr17:7669659-7669662;AGGT/- frameshift_variant True TP53@p.S240Kfs*24 1 0.59375 ENSG00000141510 chr17:7674244-7674245;-/T frameshift_variant True TP53@p.S15Kfs*27 1 0.114285714 ENSG00000141510 chr17:7676545-7676551;TCCTGAC/- frameshift_variant True TP53@p.S121Y 1 0.267857143 ENSG00000141510 chr17:7676007-7676007;G/T missense_variant True TP53@p.R306Afs*31 1 0.605633803 ENSG00000141510 chr17:7673704-7673705;-/C frameshift_variant True TP53BP1@p.Q113K 1 0.342706503 ENSG00000067369 chr15:43491688-43491688;G/T missense_variant False TP53@p.R283P 1 0.465909091 ENSG00000141510 chr17:7673772-7673772;C/G missense_variant True TP53@p.R273L 1 0.695652174 ENSG00000141510 chr17:7673802-7673802;C/A missense_variant True TP53@p.R249S 1 0.612903226 ENSG00000141510 chr17:7674216-7674216;C/A missense_variant True TP53@p.R248P 1 0.837078652 ENSG00000141510 chr17:7674220-7674220;C/G missense_variant True TP53@p.R248G 1 0.322033898 ENSG00000141510 chr17:7674221-7674221;G/C missense_variant True TP53@p.R213Q 1 0.96 ENSG00000141510 chr17:7674893-7674893;C/T missense_variant True TP53@p.W146S 1 0.382978723 ENSG00000141510 chr17:7675175-7675175;C/G missense_variant True TP53@p.Y236C 1 0.25 ENSG00000141510 chr17:7674256-7674256;T/C missense_variant True TP53AIP1@p.L88V 1 0.333333333 ENSG00000120471 chr11:128935704-128935704;G/C missense_variant False TP53BP1@p.A90S 1 0.285714286 ENSG00000067369 chr15:43492005-43492005;C/A missense_variant False TP53BP1@p.E1075Q 1 0.418181818 ENSG00000067369 chr15:43432631-43432631;C/G missense_variant False TP53BP1@p.E1165K 1 0.408450704 ENSG00000067369 chr15:43432361-43432361;C/T missense_variant False TP53BP1@p.E1551K 1 0.277439024 ENSG00000067369 chr15:43420320-43420320;C/T missense_variant False TP53BP1@p.G1720W 1 0.13559322 ENSG00000067369 chr15:43413251-43413251;C/A missense_variant False TP53BP1@p.G676A 1 0.223529412 ENSG00000067369 chr15:43456566-43456566;C/G missense_variant False TP53BP1@p.G976R 1 0.290909091 ENSG00000067369 chr15:43446486-43446486;C/T missense_variant False TP53BP1@p.I104F 1 0.196428571 ENSG00000067369 chr15:43491715-43491715;T/A missense_variant False TP53BP1@p.I104M 1 0.158273381 ENSG00000067369 chr15:43491713-43491713;G/C missense_variant False TP53BP1@p.N1188S 1 0.58490566 ENSG00000067369 chr15:43432291-43432291;T/C missense_variant False TP53BP1@p.P1636S 1 0.387096774 ENSG00000067369 chr15:43415762-43415762;G/A missense_variant False TP53BP1@p.P843A 1 0.260869565 ENSG00000067369 chr15:43456066-43456066;G/C missense_variant False TP53BP1@p.P903S 1 0.49122807 ENSG00000067369 chr15:43447480-43447480;G/A missense_variant False TP53BP1@p.Q106K 1 0.527131783 ENSG00000067369 chr15:43491709-43491709;G/T missense_variant False TRIOBP@p.E1552D 1 0.094339623 ENSG00000100106 chr22:37734992-37734992;G/C missense_variant False TRIOBP@p.E274A 1 0.214953271 ENSG00000100106 chr22:37723377-37723377;A/C missense_variant False TRIOBP@p.F1760L 1 0.4 ENSG00000100106 chr22:37740990-37740990;C/G missense_variant False TTI1@p.M247V 1 0.385185185 ENSG00000101407 chr20:38013078-38013078;T/C missense_variant False TTK@p.E373Q 1 0.333333333 ENSG00000112742 chr6:80022332-80022332;G/C missense_variant False TTI2@p.R44Q 1 0.1875 ENSG00000129696 chr8:33512483-33512483;C/T missense_variant False TTI2@p.E197K 1 0.426229508 ENSG00000129696 chr8:33512025-33512025;C/T missense_variant False TTI1@p.S244G 1 0.077319588 ENSG00000101407 chr20:38013087-38013087;T/C missense_variant False TTI1@p.R795T 1 0.421875 ENSG00000101407 chr20:38006316-38006316;C/G missense_variant False TTI1@p.R67K 1 0.329710145 ENSG00000101407 chr20:38013617-38013617;C/T missense_variant False TTI1@p.G1069R 1 0.270833333 ENSG00000101407 chr20:37983521-37983521;C/T missense_variant False TTK@p.S511C 1 0.438356164 ENSG00000112742 chr6:80031477-80031477;C/G missense_variant False TTI1@p.E810K 1 0.155660377 ENSG00000101407 chr20:38006272-38006272;C/T missense_variant False TTI1@p.E807K 1 0.453900709 ENSG00000101407 chr20:38006281-38006281;C/T missense_variant False TTI1@p.E788Q 1 0.343137255 ENSG00000101407 chr20:38006338-38006338;C/G missense_variant False TTF2@p.Q264E 1 0.347593583 ENSG00000116830 chr1:117075374-117075374;C/G missense_variant False TTF2@p.N706K 1 0.208333333 ENSG00000116830 chr1:117086480-117086480;C/G missense_variant False TTF2@p.L930V 1 0.224137931 ENSG00000116830 chr1:117091933-117091933;C/G missense_variant False TTK@p.L654V 1 0.073529412 ENSG00000112742 chr6:80036510-80036510;C/G missense_variant False TTL@p.L170P 1 0.28 ENSG00000114999 chr2:112501245-112501245;T/C missense_variant False TTN@p.D4794H 1 0.323943662 ENSG00000155657 chr2:178734493-178734493;C/G missense_variant False TTLL12@p.S339A 1 0.380952381 ENSG00000100304 chr22:43174518-43174518;A/C missense_variant False TTLL3@p.R179W 1 0.263157895 ENSG00000214021 chr3:9813000-9813000;C/T missense_variant False TTLL3@p.L343V 1 0.246428571 ENSG00000214021 chr3:9820614-9820614;C/G missense_variant False TTLL3@p.K887Sfs*68 1 0.350318471 ENSG00000214021 chr3:9835399-9835399;G/- frameshift_variant False TTLL3@p.G897A 1 0.5 ENSG00000214021 chr3:9835431-9835431;G/C missense_variant False TTLL3@p.E263V 1 0.147928994 ENSG00000214021 chr3:9817688-9817688;A/T missense_variant False TTLL1@p.D99Y 1 0.436842105 ENSG00000100271 chr22:43069663-43069663;C/A missense_variant False TTLL12@p.N337H 1 0.5625 ENSG00000100304 chr22:43174524-43174524;T/G missense_variant False TTL@p.L186F 1 0.596153846 ENSG00000114999 chr2:112501292-112501292;C/T missense_variant False TTLL12@p.K433N 1 0.285714286 ENSG00000100304 chr22:43173757-43173757;C/G missense_variant False TTLL12@p.E81K 1 0.11627907 ENSG00000100304 chr22:43183086-43183086;C/T missense_variant False TTLL12@p.E65K 1 0.164179104 ENSG00000100304 chr22:43183134-43183134;C/T missense_variant False TTLL12@p.E329K 1 0.234899329 ENSG00000100304 chr22:43174548-43174548;C/T missense_variant False TTLL11@p.R359C 1 0.317365269 ENSG00000175764 chr9:121989659-121989659;G/A missense_variant False TTLL10@p.D460H 1 0.333333333 ENSG00000162571 chr1:1185086-1185086;G/C missense_variant False TTF2@p.H116Y 1 0.265625 ENSG00000116830 chr1:117074930-117074930;C/T missense_variant False TTF2@p.H1082N 1 0.176291793 ENSG00000116830 chr1:117097408-117097408;C/A missense_variant False TTF2@p.E198Q 1 0.243243243 ENSG00000116830 chr1:117075176-117075176;G/C missense_variant False TTC7A@p.E691K 1 0.265625 ENSG00000068724 chr2:47051799-47051799;G/A missense_variant False TTC7B@p.A740D 1 0.357142857 ENSG00000165914 chr14:90578197-90578197;G/T missense_variant False TTC7A@p.Y432C 1 0.1 ENSG00000068724 chr2:47011338-47011338;A/G missense_variant False TTC7A@p.R856K 1 0.407407407 ENSG00000068724 chr2:47073913-47073913;G/A missense_variant False TTC7A@p.K655N 1 0.262295082 ENSG00000068724 chr2:47049994-47049994;G/T missense_variant False TTC7A@p.G731A 1 0.246987952 ENSG00000068724 chr2:47060808-47060808;G/C missense_variant False TTC7A@p.E71K 1 0.392857143 ENSG00000068724 chr2:46950389-46950389;G/A missense_variant False TTC7A@p.E466K 1 0.268965517 ENSG00000068724 chr2:47021865-47021865;G/A missense_variant False TTF2@p.D130N 1 0.230769231 ENSG00000116830 chr1:117074972-117074972;G/A missense_variant False TTC6@p.R494C 1 0.390625 ENSG00000139865 chr14:37842208-37842208;C/T missense_variant False TTC6@p.R284T 1 0.16 ENSG00000139865 chr14:37823932-37823932;G/C missense_variant False TTC6@p.H214Y 1 0.279279279 ENSG00000139865 chr14:37817626-37817626;C/T missense_variant False TTC5@p.Q173E 1 0.150684932 ENSG00000136319 chr14:20299328-20299328;G/C missense_variant False TTC4@p.Q202H 1 0.2 ENSG00000243725 chr1:54728357-54728357;G/C missense_variant False TTC4@p.M190I 1 0.078651685 ENSG00000243725 chr1:54722775-54722775;G/C missense_variant False TTC7B@p.G374E 1 0.814814815 ENSG00000165914 chr14:90676554-90676554;C/T missense_variant False TTC7B@p.P653L 1 0.062937063 ENSG00000165914 chr14:90610750-90610750;G/A missense_variant False TTC7B@p.Q516R 1 0.625 ENSG00000165914 chr14:90646994-90646994;T/C missense_variant False TTC7B@p.R139W 1 0.206349206 ENSG00000165914 chr14:90780768-90780768;G/A missense_variant False TTC7B@p.R252K 1 0.404255319 ENSG00000165914 chr14:90695522-90695522;C/T missense_variant False TTC7B@p.R736C 1 0.368421053 ENSG00000165914 chr14:90578210-90578210;G/A missense_variant False TTC7B@p.S34L 1 0.189655172 ENSG00000165914 chr14:90816195-90816195;G/A missense_variant False TTC7B@p.S444C 1 0.386206897 ENSG00000165914 chr14:90657184-90657184;G/C missense_variant False TTC8@p.F353L 1 0.408088235 ENSG00000165533 chr14:88870160-88870160;C/G missense_variant False TTC8@p.I129V 1 0.282051282 ENSG00000165533 chr14:88841122-88841122;A/G missense_variant False TTC8@p.P87H 1 0.118644068 ENSG00000165533 chr14:88840889-88840889;C/A missense_variant False TTC9@p.E218Q 1 0.189189189 ENSG00000133985 chr14:70671138-70671138;G/C missense_variant False TTC9@p.N163T 1 0.25 ENSG00000133985 chr14:70667645-70667645;A/C missense_variant False TTC9B@p.G231R 1 0.336448598 ENSG00000174521 chr19:40216192-40216192;C/T missense_variant False TTF1@p.G492A 1 0.231884058 ENSG00000125482 chr9:132400151-132400151;C/G missense_variant False TTF1@p.H118R 1 0.155913978 ENSG00000125482 chr9:132402469-132402469;T/C missense_variant False TTF1@p.K220N 1 0.314285714 ENSG00000125482 chr9:132402162-132402162;C/G missense_variant False TTLL3@p.R783T 1 0.416666667 ENSG00000214021 chr3:9834903-9834903;G/C missense_variant False TTLL4@p.C1174F 1 0.610526316 ENSG00000135912 chr2:218754310-218754310;G/T missense_variant False TTLL4@p.I1031M 1 0.32 ENSG00000135912 chr2:218752879-218752879;C/G missense_variant False TTN@p.D15317N 1 0.5 ENSG00000155657 chr2:178611257-178611257;C/T missense_variant False TTN@p.D2303Y 1 0.194444444 ENSG00000155657 chr2:178774357-178774357;C/A missense_variant False TTN@p.D22515N 1 0.343195266 ENSG00000155657 chr2:178573666-178573666;C/T missense_variant False TTN@p.D19131V 1 0.216216216 ENSG00000155657 chr2:178589410-178589410;T/A missense_variant False TTN@p.D17750N 1 0.483870968 ENSG00000155657 chr2:178594222-178594222;C/T missense_variant False TTN@p.D16371N 1 0.090909091 ENSG00000155657 chr2:178605143-178605143;C/T missense_variant False TTN@p.D15380N 1 0.184210526 ENSG00000155657 chr2:178611068-178611068;C/T missense_variant False TTN@p.D15167N 1 0.282608696 ENSG00000155657 chr2:178611887-178611887;C/T missense_variant False TTN@p.A29275S 1 0.158730159 ENSG00000155657 chr2:178548880-178548880;C/A missense_variant False TTN@p.C26929R 1 0.68 ENSG00000155657 chr2:178560424-178560424;A/G missense_variant False TTN@p.C1468W 1 0.164383562 ENSG00000155657 chr2:178777780-178777780;A/C missense_variant False TTN@p.A7992T 1 0.411764706 ENSG00000155657 chr2:178718081-178718081;C/T missense_variant False TTN@p.A6030S 1 0.53125 ENSG00000155657 chr2:178728999-178728999;C/A missense_variant False TTN@p.A4986T 1 0.24137931 ENSG00000155657 chr2:178733386-178733386;C/T missense_variant False TTN@p.A4968T 1 0.254385965 ENSG00000155657 chr2:178733440-178733440;C/T missense_variant False TTN@p.D23070Y 1 0.5 ENSG00000155657 chr2:178572001-178572001;C/A missense_variant False TTN@p.D25627H 1 0.107142857 ENSG00000155657 chr2:178564330-178564330;C/G missense_variant False TTN@p.D26693G 1 0.20754717 ENSG00000155657 chr2:178561131-178561131;T/C missense_variant False TTN@p.D26778H 1 0.294117647 ENSG00000155657 chr2:178560877-178560877;C/G missense_variant False TTN@p.D27114N 1 0.336633663 ENSG00000155657 chr2:178559869-178559869;C/T missense_variant False TTN@p.D27151H 1 0.111111111 ENSG00000155657 chr2:178559758-178559758;C/G missense_variant False TTN@p.D29285H 1 0.164179104 ENSG00000155657 chr2:178548850-178548850;C/G missense_variant False TTN@p.D29335N 1 0.353982301 ENSG00000155657 chr2:178548700-178548700;C/T missense_variant False TTN@p.D29517H 1 0.349442379 ENSG00000155657 chr2:178548154-178548154;C/G missense_variant False TTN@p.D29550N 1 0.342857143 ENSG00000155657 chr2:178548055-178548055;C/T missense_variant False TTN@p.D30869H 1 0.769230769 ENSG00000155657 chr2:178541549-178541549;C/G missense_variant False TTN@p.D31372Y 1 0.338983051 ENSG00000155657 chr2:178538792-178538792;C/A missense_variant False TTN@p.D31677N 1 0.233333333 ENSG00000155657 chr2:178537157-178537157;C/T missense_variant False TTN@p.D3316N 1 0.082901554 ENSG00000155657 chr2:178764569-178764569;C/T missense_variant False TTN@p.D33830H 1 0.347826087 ENSG00000155657 chr2:178530080-178530080;C/G missense_variant False TTN@p.D33994N 1 0.375 ENSG00000155657 chr2:178528848-178528848;C/T missense_variant False TTN@p.D4559N 1 0.142857143 ENSG00000155657 chr2:178735820-178735820;C/T missense_variant False TTN@p.A33459V 1 0.755102041 ENSG00000155657 chr2:178531316-178531316;G/A missense_variant False TTN@p.A28598V 1 0.130841121 ENSG00000155657 chr2:178552184-178552184;G/A missense_variant False TTLL4@p.R929C 1 0.2 ENSG00000135912 chr2:218750058-218750058;C/T missense_variant False TTLL5@p.Q1168H 1 0.392857143 ENSG00000119685 chr14:75863844-75863844;G/C missense_variant False TTLL6@p.A584T 1 0.425867508 ENSG00000170703 chr17:48786175-48786175;C/T missense_variant False TTLL6@p.A524D 1 0.125 ENSG00000170703 chr17:48787829-48787829;G/T missense_variant False TTLL5@p.S940F 1 0.2109375 ENSG00000119685 chr14:75783363-75783363;C/T missense_variant False TTLL5@p.S114F 1 0.366197183 ENSG00000119685 chr14:75683626-75683626;C/T missense_variant False TTLL5@p.R479Q 1 0.282608696 ENSG00000119685 chr14:75745530-75745530;G/A missense_variant False TTLL5@p.Q711H 1 0.422680412 ENSG00000119685 chr14:75771851-75771851;G/C missense_variant False TTLL5@p.M1190I 1 0.1375 ENSG00000119685 chr14:75882732-75882732;G/T missense_variant False TTN@p.A20755P 1 0.118518519 ENSG00000155657 chr2:178580101-178580101;C/G missense_variant False TTLL5@p.L1211V 1 0.206896552 ENSG00000119685 chr14:75882793-75882793;C/G missense_variant False TTLL5@p.H1140Y 1 0.173913043 ENSG00000119685 chr14:75863758-75863758;C/T missense_variant False TTLL5@p.G1193V 1 0.149253731 ENSG00000119685 chr14:75882740-75882740;G/T missense_variant False TTLL5@p.G1193C 1 0.147058824 ENSG00000119685 chr14:75882739-75882739;G/T missense_variant False TTLL4@p.S420N 1 0.22556391 ENSG00000135912 chr2:218738935-218738935;G/A missense_variant False TTLL4@p.S282Vfs*29 1 0.435483871 ENSG00000135912 chr2:218738518-218738518;C/- frameshift_variant False TTLL6@p.A876T 1 0.144444444 ENSG00000170703 chr17:48769039-48769039;C/T missense_variant False TTLL6@p.E486K 1 0.061919505 ENSG00000170703 chr17:48787944-48787944;C/T missense_variant False TTLL7@p.I274M 1 0.113924051 ENSG00000137941 chr1:83937918-83937918;G/C missense_variant False TTLL7@p.L859F 1 0.518518519 ENSG00000137941 chr1:83870049-83870049;C/G missense_variant False TTLL7@p.M28I 1 0.324675325 ENSG00000137941 chr1:83951918-83951918;C/T missense_variant False TTLL7@p.Q25E 1 0.185714286 ENSG00000137941 chr1:83951929-83951929;G/C missense_variant False TTLL7@p.Q285E 1 0.068965517 ENSG00000137941 chr1:83937887-83937887;G/C missense_variant False TTLL7@p.S731F 1 0.5 ENSG00000137941 chr1:83904095-83904095;G/A missense_variant False TTLL7@p.W346L 1 0.38028169 ENSG00000137941 chr1:83933618-83933618;C/A missense_variant False TTLL8@p.F406L 1 0.4 ENSG00000138892 chr22:50033315-50033315;G/C missense_variant False TTLL8@p.I401L 1 0.642857143 ENSG00000138892 chr22:50033332-50033332;T/G missense_variant False TTLL9@p.E215D 1 0.346666667 ENSG00000131044 chr20:31923034-31923034;A/C missense_variant False TTLL9@p.H366N 1 0.210526316 ENSG00000131044 chr20:31937487-31937487;C/A missense_variant False TTLL9@p.I301M 1 0.31 ENSG00000131044 chr20:31934787-31934787;C/G missense_variant False TTLL9@p.T48S 1 0.189189189 ENSG00000131044 chr20:31898502-31898502;C/G missense_variant False TTN@p.A12112V 1 0.214285714 ENSG00000155657 chr2:178636469-178636469;G/A missense_variant False TTN@p.A17333V 1 0.125 ENSG00000155657 chr2:178598789-178598789;G/A missense_variant False TTC3@p.T1764S 1 0.152671756 ENSG00000182670 chr21:37195747-37195747;A/T missense_variant False TTC3@p.S923F 1 0.075 ENSG00000182670 chr21:37156682-37156682;C/T missense_variant False TTC3@p.S475F 1 0.327272727 ENSG00000182670 chr21:37132747-37132747;C/T missense_variant False TTC17@p.L658V 1 0.424242424 ENSG00000052841 chr11:43407485-43407485;C/G missense_variant False TTC1@p.S155L 1 0.327586207 ENSG00000113312 chr5:160036763-160036763;C/T missense_variant False TTC19@p.K338Q 1 0.568965517 ENSG00000011295 chr17:16027391-16027391;A/C missense_variant False TTC17@p.Y229C 1 0.196078431 ENSG00000052841 chr11:43396731-43396731;A/G missense_variant False TTC17@p.V1016I 1 0.510638298 ENSG00000052841 chr11:43490254-43490254;G/A missense_variant False TTC17@p.R10P 1 0.157894737 ENSG00000052841 chr11:43358983-43358983;G/C missense_variant False TTC17@p.P63L 1 0.393442623 ENSG00000052841 chr11:43379261-43379261;C/T missense_variant False TTC17@p.I618M 1 0.4 ENSG00000052841 chr11:43407367-43407367;C/G missense_variant False TTC16@p.Q678H 1 0.236842105 ENSG00000167094 chr9:127730817-127730817;G/C missense_variant False TTC17@p.I170M 1 0.2 ENSG00000052841 chr11:43391555-43391555;A/G missense_variant False TTC17@p.G813S 1 0.072072072 ENSG00000052841 chr11:43443510-43443510;G/A missense_variant False TTC17@p.E762K 1 0.333333333 ENSG00000052841 chr11:43443357-43443357;G/A missense_variant False TTC17@p.A944G 1 0.496 ENSG00000052841 chr11:43450126-43450126;C/G missense_variant False TTC16@p.S707F 1 0.651515152 ENSG00000167094 chr9:127730903-127730903;C/T missense_variant False TTC16@p.S113L 1 0.265306122 ENSG00000167094 chr9:127717684-127717684;C/T missense_variant False TTC21A@p.A412S 1 0.5 ENSG00000168026 chr3:39125350-39125350;G/T missense_variant False TTC21A@p.E1091K 1 0.353658537 ENSG00000168026 chr3:39137053-39137053;G/A missense_variant False TTC21A@p.E464K 1 0.229166667 ENSG00000168026 chr3:39125506-39125506;G/A missense_variant False TTC21A@p.E953K 1 0.352201258 ENSG00000168026 chr3:39134302-39134302;G/A missense_variant False TTC21A@p.I977M 1 0.060240964 ENSG00000168026 chr3:39135140-39135140;C/G missense_variant False TTC21A@p.R969T 1 0.206896552 ENSG00000168026 chr3:39135115-39135115;G/C missense_variant False TTC21A@p.S332L 1 0.293706294 ENSG00000168026 chr3:39121067-39121067;C/T missense_variant False TTC21B@p.E1081Q 1 0.395348837 ENSG00000123607 chr2:165890501-165890501;C/G missense_variant False TTC21B@p.E622Q 1 0.13559322 ENSG00000123607 chr2:165917292-165917292;C/G missense_variant False TTC21B@p.G1238A 1 0.275862069 ENSG00000123607 chr2:165880771-165880771;C/G missense_variant False TTC21B@p.K407N 1 0.391304348 ENSG00000123607 chr2:165929300-165929300;C/A missense_variant False TTC21B@p.K810E 1 0.122807018 ENSG00000123607 chr2:165911360-165911360;T/C missense_variant False TTC21B@p.L530V 1 0.078947368 ENSG00000123607 chr2:165919362-165919362;G/C missense_variant False TTC21B@p.M1063I 1 0.3 ENSG00000123607 chr2:165890553-165890553;C/G missense_variant False TTC21B@p.M219I 1 0.172413793 ENSG00000123607 chr2:165941080-165941080;C/T missense_variant False TTC21B@p.R1225C 1 0.442307692 ENSG00000123607 chr2:165883805-165883805;G/A missense_variant False TTC22@p.E84K 1 0.25 ENSG00000006555 chr1:54800914-54800914;C/T missense_variant False TTC16@p.R255C 1 0.87037037 ENSG00000167094 chr9:127723224-127723224;C/T missense_variant False TTC16@p.P559L 1 0.6 ENSG00000167094 chr9:127727377-127727377;C/T missense_variant False TTC23@p.S82L 1 0.227272727 ENSG00000103852 chr15:99221800-99221800;G/A missense_variant False TTBK1@p.R426Q 1 0.127659574 ENSG00000146216 chr6:43259559-43259559;G/A missense_variant False TTBK2@p.E842Q 1 0.4 ENSG00000128881 chr15:42752722-42752722;C/G missense_variant False TTBK2@p.E596K 1 0.19266055 ENSG00000128881 chr15:42775347-42775347;C/T missense_variant False TTBK2@p.E291K 1 0.163265306 ENSG00000128881 chr15:42794753-42794753;C/T missense_variant False TTBK2@p.D932N 1 0.307692308 ENSG00000128881 chr15:42752452-42752452;C/T missense_variant False TTBK2@p.D824H 1 0.342857143 ENSG00000128881 chr15:42752776-42752776;C/G missense_variant False TTBK2@p.D103N 1 0.35 ENSG00000128881 chr15:42830063-42830063;C/T missense_variant False TTBK1@p.G783A 1 0.363636364 ENSG00000146216 chr6:43283088-43283088;G/C missense_variant False TTC16@p.G14S 1 0.153846154 ENSG00000167094 chr9:127716865-127716865;G/A missense_variant False TTBK1@p.A956V 1 0.130434783 ENSG00000146216 chr6:43283607-43283607;C/T missense_variant False TSTD2@p.V339I 1 0.305785124 ENSG00000136925 chr9:97605581-97605581;C/T missense_variant False TSTD2@p.R203Q 1 0.977777778 ENSG00000136925 chr9:97611695-97611695;C/T missense_variant False TSTD2@p.L380F 1 0.545454545 ENSG00000136925 chr9:97604841-97604841;G/A missense_variant False TSTD2@p.G248Rfs*8 1 0.421052632 ENSG00000136925 chr9:97610424-97610440;GAAAACAGTGAGCTCCT/- frameshift_variant False TST@p.R159H 1 0.214285714 ENSG00000128311 chr22:37018257-37018257;C/T missense_variant False TTBK2@p.E887K 1 0.371428571 ENSG00000128881 chr15:42752587-42752587;C/T missense_variant False TTBK2@p.K971N 1 0.402173913 ENSG00000128881 chr15:42752333-42752333;C/G missense_variant False TTBK2@p.N876Ifs*10 1 0.156862745 ENSG00000128881 chr15:42752619-42752619;T/- frameshift_variant False TTC13@p.D564H 1 0.147058824 ENSG00000143643 chr1:230924872-230924872;C/G missense_variant False TTC13@p.G696R 1 0.268456376 ENSG00000143643 chr1:230916200-230916200;C/T missense_variant False TTC13@p.K321T 1 0.288135593 ENSG00000143643 chr1:230933800-230933800;T/G missense_variant False TTC13@p.R627T 1 0.631578947 ENSG00000143643 chr1:230921439-230921439;C/G missense_variant False TTC13@p.S852F 1 0.067567568 ENSG00000143643 chr1:230906933-230906933;G/A missense_variant False TTC13@p.T715I 1 0.139072848 ENSG00000143643 chr1:230912708-230912708;G/A missense_variant False TTC14@p.D122E 1 0.179190751 ENSG00000163728 chr3:180603203-180603203;T/A missense_variant False TTC14@p.E238K 1 0.151515152 ENSG00000163728 chr3:180604862-180604862;G/A missense_variant False TTC14@p.E419Q 1 0.151515152 ENSG00000163728 chr3:180607730-180607730;G/C missense_variant False TTC14@p.H690Y 1 0.090909091 ENSG00000163728 chr3:180610297-180610297;C/T missense_variant False TTC14@p.L212F 1 0.151515152 ENSG00000163728 chr3:180604540-180604540;C/T missense_variant False TTC14@p.R58T 1 0.180327869 ENSG00000163728 chr3:180602902-180602902;G/C missense_variant False TTC14@p.R621K 1 0.409356725 ENSG00000163728 chr3:180610091-180610091;G/A missense_variant False TTC16@p.F209L 1 0.141509434 ENSG00000167094 chr9:127720365-127720365;C/G missense_variant False TTC23@p.E138Q 1 0.077220077 ENSG00000103852 chr15:99218941-99218941;C/G missense_variant False TTC23L@p.H32N 1 0.096774194 ENSG00000205838 chr5:34845512-34845512;C/A missense_variant False TTC3@p.S1115C 1 0.33557047 ENSG00000182670 chr21:37165558-37165558;C/G missense_variant False TTC39A@p.E413K 1 0.764705882 ENSG00000085831 chr1:51296095-51296095;C/T missense_variant False TTC39C@p.S211F 1 0.301886792 ENSG00000168234 chr18:24080756-24080756;C/T missense_variant False TTC39C@p.L275V 1 0.146067416 ENSG00000168234 chr18:24082920-24082920;C/G missense_variant False TTC39B@p.D455H 1 0.217391304 ENSG00000155158 chr9:15188003-15188003;C/G missense_variant False TTC39B@p.C585Y 1 0.421052632 ENSG00000155158 chr9:15177784-15177784;C/T missense_variant False TTC39A@p.E66D 1 0.186440678 ENSG00000085831 chr1:51312895-51312895;C/G missense_variant False TTC39A@p.E582Q 1 0.307692308 ENSG00000085831 chr1:51288255-51288255;C/G missense_variant False TTC39A@p.E18Q 1 0.235294118 ENSG00000085831 chr1:51321818-51321818;C/G missense_variant False TTC37@p.F208L 1 0.413793103 None chr5:95537061-95537061;G/C missense_variant False TTC39A@p.E119K 1 0.416666667 ENSG00000085831 chr1:51312122-51312122;C/T missense_variant False TTC39A@p.A321G 1 0.304347826 ENSG00000085831 chr1:51302394-51302394;G/C missense_variant False TTC38@p.D61N 1 0.363636364 ENSG00000075234 chr22:46272404-46272404;G/A missense_variant False TTC37@p.S364L 1 0.065217391 None chr5:95528056-95528056;G/A missense_variant False TTC37@p.M1063I 1 0.43956044 None chr5:95503842-95503842;C/T missense_variant False TTC37@p.L995Q 1 0.104477612 None chr5:95509624-95509624;A/T missense_variant False TTC3@p.A1229T 1 0.259259259 ENSG00000182670 chr21:37165899-37165899;G/A missense_variant False TTC3@p.D496H 1 0.352941176 ENSG00000182670 chr21:37135422-37135422;G/C missense_variant False TTC3@p.D668N 1 0.241935484 ENSG00000182670 chr21:37147589-37147589;G/A missense_variant False TTC3@p.E1267K 1 0.325842697 ENSG00000182670 chr21:37166013-37166013;G/A missense_variant False TTC3@p.E1284Q 1 0.113821138 ENSG00000182670 chr21:37166064-37166064;G/C missense_variant False TTC3@p.E1885K 1 0.596153846 ENSG00000182670 chr21:37197643-37197643;G/A missense_variant False TTC3@p.G711E 1 0.195121951 ENSG00000182670 chr21:37150091-37150091;G/A missense_variant False TTC3@p.G926V 1 0.38961039 ENSG00000182670 chr21:37156691-37156691;G/T missense_variant False TTC3@p.H1056Y 1 0.104477612 ENSG00000182670 chr21:37162059-37162059;C/T missense_variant False TTC3@p.H1460Y 1 0.423728814 ENSG00000182670 chr21:37166592-37166592;C/T missense_variant False TTC3@p.K123N 1 0.178571429 ENSG00000182670 chr21:37088829-37088829;G/T missense_variant False TTC3@p.K830N 1 0.069767442 ENSG00000182670 chr21:37153027-37153027;G/C missense_variant False TTC3@p.L546V 1 0.330097087 ENSG00000182670 chr21:37138691-37138691;C/G missense_variant False TTC3@p.P1230S 1 0.155555556 ENSG00000182670 chr21:37165902-37165902;C/T missense_variant False TTC3@p.R1161S 1 0.070175439 ENSG00000182670 chr21:37165695-37165695;C/A missense_variant False TTC3@p.R1818Q 1 0.275 ENSG00000182670 chr21:37195910-37195910;G/A missense_variant False TTC3@p.R676C 1 0.416666667 ENSG00000182670 chr21:37148555-37148555;C/T missense_variant False TTC37@p.H881N 1 0.321428571 None chr5:95514917-95514917;G/T missense_variant False TTC36@p.Q57H 1 0.148514851 ENSG00000172425 chr11:118528655-118528655;G/C missense_variant False TTC23L@p.L170V 1 0.136363636 ENSG00000205838 chr5:34863026-34863026;C/G missense_variant False TTC27@p.S225L 1 0.25 ENSG00000018699 chr2:32664336-32664336;C/T missense_variant False TTC30A@p.E388Q 1 0.127388535 ENSG00000197557 chr2:177617540-177617540;C/G missense_variant False TTC30A@p.D363H 1 0.142857143 ENSG00000197557 chr2:177617615-177617615;C/G missense_variant False TTC30A@p.D24Y 1 0.363636364 ENSG00000197557 chr2:177618632-177618632;C/A missense_variant False TTC29@p.Y400H 1 0.333333333 ENSG00000137473 chr4:146803589-146803589;A/G missense_variant False TTC29@p.R215Q 1 0.375 ENSG00000137473 chr4:146874871-146874871;C/T missense_variant False TTC29@p.D40G 1 0.3 ENSG00000137473 chr4:146937651-146937651;T/C missense_variant False TTC27@p.R607L 1 0.463414634 ENSG00000018699 chr2:32782666-32782666;G/T missense_variant False TTC36@p.Q45E 1 0.825 ENSG00000172425 chr11:118528617-118528617;C/G missense_variant False TTC27@p.D79Y 1 0.317073171 ENSG00000018699 chr2:32630669-32630669;G/T missense_variant False TTC26@p.R75K 1 0.0546875 ENSG00000105948 chr7:139137929-139137929;G/A missense_variant False TTC26@p.A547S 1 0.816666667 ENSG00000105948 chr7:139189406-139189406;G/T missense_variant False TTC25@p.S73L 1 0.28 None chr17:41935320-41935320;C/T missense_variant False TTC25@p.Q330H 1 0.183673469 None chr17:41939104-41939104;G/C missense_variant False TTC23L@p.S310C 1 0.25 ENSG00000205838 chr5:34868993-34868993;C/G missense_variant False TTC30A@p.E399K 1 0.31 ENSG00000197557 chr2:177617507-177617507;C/T missense_variant False TTC30A@p.E611Q 1 0.488764045 ENSG00000197557 chr2:177616871-177616871;C/G missense_variant False TTC30A@p.R404T 1 0.264227642 ENSG00000197557 chr2:177617491-177617491;C/G missense_variant False TTC30B@p.E151D 1 0.134615385 ENSG00000196659 chr2:177552311-177552311;C/G missense_variant False TTC30B@p.E153Q 1 0.279620853 ENSG00000196659 chr2:177552307-177552307;C/G missense_variant False TTC30B@p.K445N 1 0.084577114 ENSG00000196659 chr2:177551429-177551429;C/G missense_variant False TTC30B@p.L349F 1 0.142857143 ENSG00000196659 chr2:177551717-177551717;C/G missense_variant False TTC30B@p.M597V 1 0.165605096 ENSG00000196659 chr2:177550975-177550975;T/C missense_variant False TTC30B@p.R404T 1 0.878947368 ENSG00000196659 chr2:177551553-177551553;C/G missense_variant False TTC31@p.E24Q 1 0.509677419 ENSG00000115282 chr2:74483351-74483351;G/C missense_variant False TTC31@p.E87K 1 0.132352941 ENSG00000115282 chr2:74490270-74490270;G/A missense_variant False TTC31@p.Q517E 1 0.243902439 ENSG00000115282 chr2:74493207-74493207;C/G missense_variant False TTC31@p.S234F 1 0.326388889 ENSG00000115282 chr2:74491497-74491497;C/T missense_variant False TTC32@p.E46D 1 0.56 ENSG00000183891 chr2:19901717-19901717;C/G missense_variant False TTC33@p.M98I 1 0.290502793 ENSG00000113638 chr5:40730271-40730271;C/T missense_variant False TTC33@p.S15L 1 0.194444444 ENSG00000113638 chr5:40746975-40746975;G/A missense_variant False TTC33@p.S235F 1 0.352941176 ENSG00000113638 chr5:40716230-40716230;G/A missense_variant False TTN@p.D4623G 1 0.157142857 ENSG00000155657 chr2:178735627-178735627;T/C missense_variant False TTN@p.D5747N 1 0.351351351 ENSG00000155657 chr2:178730210-178730210;C/T missense_variant False TST@p.E227Q 1 0.322580645 ENSG00000128311 chr22:37011242-37011242;C/G missense_variant False TTN@p.R5036Q 1 0.740740741 ENSG00000155657 chr2:178733118-178733118;C/T missense_variant False TTN@p.S20146T 1 0.315789474 ENSG00000155657 chr2:178583822-178583822;C/G missense_variant False TTN@p.S18069G 1 0.142857143 ENSG00000155657 chr2:178592991-178592991;T/C missense_variant False TTN@p.S17157L 1 0.259259259 ENSG00000155657 chr2:178599400-178599400;G/A missense_variant False TTN@p.S15918L 1 0.3125 ENSG00000155657 chr2:178608207-178608207;G/A missense_variant False TTN@p.R8461K 1 0.5 ENSG00000155657 chr2:178714441-178714441;C/T missense_variant False TTN@p.R6844S 1 0.172413793 ENSG00000155657 chr2:178723617-178723617;T/A missense_variant False TTN@p.R4991Q 1 0.350877193 ENSG00000155657 chr2:178733370-178733370;C/T missense_variant False TTN@p.S21244L 1 0.295774648 ENSG00000155657 chr2:178577772-178577772;G/A missense_variant False TTN@p.R4949Q 1 0.364238411 ENSG00000155657 chr2:178733496-178733496;C/T missense_variant False TTN@p.R4545T 1 0.159090909 ENSG00000155657 chr2:178735861-178735861;C/G missense_variant False TTN@p.R439T 1 0.193277311 ENSG00000155657 chr2:178794481-178794481;C/G missense_variant False TTN@p.R32883K 1 0.377431907 ENSG00000155657 chr2:178533044-178533044;C/T missense_variant False TTN@p.R28394C 1 0.094017094 ENSG00000155657 chr2:178552797-178552797;G/A missense_variant False TTN@p.R26689K 1 0.4375 ENSG00000155657 chr2:178561143-178561143;C/T missense_variant False TTN@p.S21045F 1 0.176470588 ENSG00000155657 chr2:178578973-178578973;G/A missense_variant False TTN@p.S21978N 1 0.178571429 ENSG00000155657 chr2:178575276-178575276;C/T missense_variant False TTN@p.D7531H 1 0.228070175 ENSG00000155657 chr2:178720100-178720100;C/G missense_variant False TTN@p.S32170L 1 0.233766234 ENSG00000155657 chr2:178535183-178535183;G/A missense_variant False TTN@p.S4130L 1 0.256880734 ENSG00000155657 chr2:178739893-178739893;G/A missense_variant False TTN@p.S34105L 1 0.179487179 ENSG00000155657 chr2:178528414-178528414;G/A missense_variant False TTN@p.S33508C 1 0.131914894 ENSG00000155657 chr2:178531169-178531169;G/C missense_variant False TTN@p.S33309L 1 0.525641026 ENSG00000155657 chr2:178531766-178531766;G/A missense_variant False TTN@p.S33254L 1 0.166666667 ENSG00000155657 chr2:178531931-178531931;G/A missense_variant False TTN@p.S32200L 1 0.293333333 ENSG00000155657 chr2:178535093-178535093;G/A missense_variant False TTN@p.S3082C 1 0.160714286 ENSG00000155657 chr2:178768074-178768074;G/C missense_variant False TTN@p.S22443C 1 0.5 ENSG00000155657 chr2:178573881-178573881;G/C missense_variant False TTN@p.S29883L 1 0.25 ENSG00000155657 chr2:178546857-178546857;G/A missense_variant False TTN@p.S29756L 1 0.214285714 ENSG00000155657 chr2:178547436-178547436;G/A missense_variant False TTN@p.S29054F 1 0.23255814 ENSG00000155657 chr2:178549638-178549638;G/A missense_variant False TTN@p.S28865I 1 0.2 ENSG00000155657 chr2:178551014-178551014;C/A missense_variant False TTN@p.S28397L 1 0.25 ENSG00000155657 chr2:178552787-178552787;G/A missense_variant False TTN@p.S25293L 1 0.127659574 ENSG00000155657 chr2:178565331-178565331;G/A missense_variant False TTN@p.R24306K 1 0.196721311 ENSG00000155657 chr2:178568292-178568292;C/T missense_variant False TTN@p.R23703W 1 0.352941176 ENSG00000155657 chr2:178570102-178570102;G/A missense_variant False TTN@p.R23341T 1 0.735632184 ENSG00000155657 chr2:178571187-178571187;C/G missense_variant False TTN@p.P22683H 1 0.314285714 ENSG00000155657 chr2:178573161-178573161;G/T missense_variant False TTN@p.P8484L 1 0.679245283 ENSG00000155657 chr2:178714372-178714372;G/A missense_variant False TTN@p.P5909R 1 0.609756098 ENSG00000155657 chr2:178729479-178729479;G/C missense_variant False TTN@p.P30364T 1 0.125 ENSG00000155657 chr2:178544216-178544216;G/T missense_variant False TTN@p.P28315R 1 0.884615385 ENSG00000155657 chr2:178553033-178553033;G/C missense_variant False TTN@p.P27101T 1 0.261363636 ENSG00000155657 chr2:178559908-178559908;G/T missense_variant False TTN@p.P2430A 1 0.162393162 ENSG00000155657 chr2:178773880-178773880;G/C missense_variant False TTN@p.P22672A 1 0.180722892 ENSG00000155657 chr2:178573195-178573195;G/C missense_variant False TTN@p.R22165G 1 0.356435644 ENSG00000155657 chr2:178574716-178574716;T/C missense_variant False TTN@p.P20140A 1 0.375 ENSG00000155657 chr2:178583841-178583841;G/C missense_variant False TTN@p.P18833S 1 0.304347826 ENSG00000155657 chr2:178590305-178590305;G/A missense_variant False TTN@p.P16962S 1 0.380952381 ENSG00000155657 chr2:178601097-178601097;G/A missense_variant False TTN@p.P16767Q 1 0.111111111 ENSG00000155657 chr2:178602048-178602048;G/T missense_variant False TTN@p.P16207S 1 0.20754717 ENSG00000155657 chr2:178607060-178607060;G/A missense_variant False TTN@p.P11905L 1 0.277108434 ENSG00000155657 chr2:178640627-178640627;G/A missense_variant False TTN@p.P8590S 1 0.5625 ENSG00000155657 chr2:178713939-178713939;G/A missense_variant False TTN@p.P8695T 1 0.225806452 ENSG00000155657 chr2:178713100-178713100;G/T missense_variant False TTN@p.P9080H 1 0.087719298 ENSG00000155657 chr2:178710907-178710907;G/T missense_variant False TTN@p.Q12510R 1 0.361445783 ENSG00000155657 chr2:178634047-178634047;T/C missense_variant False TTN@p.Q14232E 1 0.347826087 ENSG00000155657 chr2:178617468-178617468;G/C missense_variant False TTN@p.Q2321E 1 0.170886076 ENSG00000155657 chr2:178774303-178774303;G/C missense_variant False TTN@p.Q26262H 1 0.395833333 ENSG00000155657 chr2:178562423-178562423;C/G missense_variant False TTN@p.Q27102H 1 0.196428571 ENSG00000155657 chr2:178559903-178559903;C/G missense_variant False TTN@p.Q3858E 1 0.75 ENSG00000155657 chr2:178740710-178740710;G/C missense_variant False TTN@p.Q5494E 1 0.18220339 ENSG00000155657 chr2:178731335-178731335;G/C missense_variant False TTN@p.R15694H 1 0.155555556 ENSG00000155657 chr2:178609306-178609306;C/T missense_variant False TTN@p.R16499Q 1 0.23255814 ENSG00000155657 chr2:178604268-178604268;C/T missense_variant False TTN@p.R1752C 1 0.382352941 ENSG00000155657 chr2:178776610-178776610;G/A missense_variant False TTN@p.R19153T 1 0.328358209 ENSG00000155657 chr2:178589344-178589344;C/G missense_variant False TTN@p.R19730S 1 0.387096774 ENSG00000155657 chr2:178586788-178586788;C/A missense_variant False TTN@p.R20633H 1 0.193548387 ENSG00000155657 chr2:178580558-178580558;C/T missense_variant False TTN@p.R21790T 1 0.263157895 ENSG00000155657 chr2:178575840-178575840;C/G missense_variant False TTN@p.S4819L 1 0.092436975 ENSG00000155657 chr2:178734417-178734417;G/A missense_variant False TTN@p.S5280C 1 0.279069767 ENSG00000155657 chr2:178732179-178732179;G/C missense_variant False TTN@p.S5617Y 1 0.410958904 ENSG00000155657 chr2:178730732-178730732;G/T missense_variant False TTN@p.Y25248H 1 0.381818182 ENSG00000155657 chr2:178565467-178565467;A/G missense_variant False TTPAL@p.S340C 1 0.303571429 ENSG00000124120 chr20:44489531-44489531;C/G missense_variant False TTPAL@p.S323L 1 0.411764706 ENSG00000124120 chr20:44489480-44489480;C/T missense_variant False TTPAL@p.L261V 1 0.365217391 ENSG00000124120 chr20:44489293-44489293;C/G missense_variant False TTN@p.Y8360N 1 0.316546763 ENSG00000155657 chr2:178715157-178715157;A/T missense_variant False TTN@p.Y78C 1 0.158940397 ENSG00000155657 chr2:178802200-178802200;T/C missense_variant False TTN@p.Y29735H 1 1.0 ENSG00000155657 chr2:178547500-178547500;A/G missense_variant False TTN@p.Y22181C 1 0.170731707 ENSG00000155657 chr2:178574667-178574667;T/C missense_variant False TTN@p.V706I 1 0.642857143 ENSG00000155657 chr2:178786102-178786102;C/T missense_variant False TTN@p.Y21926C 1 0.328358209 ENSG00000155657 chr2:178575432-178575432;T/C missense_variant False TTN@p.Y1601F 1 0.114285714 ENSG00000155657 chr2:178777161-178777161;T/A missense_variant False TTN@p.W32431R 1 0.344827586 ENSG00000155657 chr2:178534401-178534401;A/G missense_variant False TTN@p.W27715C 1 0.484848485 ENSG00000155657 chr2:178557086-178557086;C/A missense_variant False TTN@p.W25976C 1 0.214285714 ENSG00000155657 chr2:178563281-178563281;C/G missense_variant False TTN@p.V8743L 1 0.422222222 ENSG00000155657 chr2:178712847-178712847;C/A missense_variant False TTR@p.G13E 1 0.345454545 ENSG00000118271 chr18:31591940-31591940;G/A missense_variant False TTYH1@p.D117N 1 0.180722892 ENSG00000167614 chr19:54421320-54421320;G/A missense_variant False TTYH1@p.R173P 1 0.25 ENSG00000167614 chr19:54422290-54422290;G/C missense_variant False TTYH1@p.S120C 1 0.128205128 ENSG00000167614 chr19:54421330-54421330;C/G missense_variant False TTYH2@p.D425N 1 0.290909091 ENSG00000141540 chr17:74253094-74253094;G/A missense_variant False TTYH2@p.Q184E 1 0.301369863 ENSG00000141540 chr17:74237429-74237429;C/G missense_variant False TTYH3@p.I223M 1 0.170833333 ENSG00000136295 chr7:2648001-2648001;C/G missense_variant False TTYH3@p.S503C 1 0.375 ENSG00000136295 chr7:2661675-2661675;C/G missense_variant False TUB@p.E65K 1 0.356521739 ENSG00000166402 chr11:8090171-8090171;G/A missense_variant False TUB@p.F22L 1 0.25 ENSG00000166402 chr11:8038937-8038937;T/C missense_variant False TUBA1A@p.A331V 1 0.446428571 ENSG00000167552 chr12:49185374-49185374;G/A missense_variant False TUBA1A@p.D199N 1 0.085365854 ENSG00000167552 chr12:49185771-49185771;C/T missense_variant False TUBA1A@p.E254Q 1 0.092307692 ENSG00000167552 chr12:49185606-49185606;C/G missense_variant False TUBA1A@p.E447K 1 0.09375 ENSG00000167552 chr12:49185027-49185027;C/T missense_variant False TUBA1A@p.E90Q 1 0.098591549 ENSG00000167552 chr12:49186417-49186417;C/G missense_variant False TUBA1A@p.E97G 1 0.064516129 ENSG00000167552 chr12:49186395-49186395;T/C missense_variant False TUBA1A@p.H88N 1 0.128 ENSG00000167552 chr12:49186423-49186423;G/T missense_variant False TTN@p.V8410I 1 0.556149733 ENSG00000155657 chr2:178715007-178715007;C/T missense_variant False TTN@p.V5556Lfs*13 1 0.128654971 ENSG00000155657 chr2:178731035-178731048;ACTGTATCAGTGAC/- frameshift_variant False TTN@p.S5643L 1 0.4 ENSG00000155657 chr2:178730654-178730654;G/A missense_variant False TTN@p.S8429Y 1 0.416666667 ENSG00000155657 chr2:178714537-178714537;G/T missense_variant False TTN@p.T25882Hfs*2 1 0.21686747 ENSG00000155657 chr2:178563565-178563565;T/- frameshift_variant False TTN@p.T23031N 1 0.41025641 ENSG00000155657 chr2:178572117-178572117;G/T missense_variant False TTN@p.T2060M 1 0.1328125 ENSG00000155657 chr2:178775685-178775685;G/A missense_variant False TTN@p.T15764A 1 0.2 ENSG00000155657 chr2:178608798-178608798;T/C missense_variant False TTN@p.T12204R 1 0.051282051 ENSG00000155657 chr2:178636037-178636037;G/C missense_variant False TTN@p.S8595N 1 0.138888889 ENSG00000155657 chr2:178713923-178713923;C/T missense_variant False TTN@p.S8155I 1 0.257142857 ENSG00000155657 chr2:178717319-178717319;C/A missense_variant False TTN@p.V4998I 1 0.115384615 ENSG00000155657 chr2:178733350-178733350;C/T missense_variant False TTN@p.S7979C 1 0.333333333 ENSG00000155657 chr2:178718119-178718119;G/C missense_variant False TTN@p.S7522C 1 0.230769231 ENSG00000155657 chr2:178720127-178720127;T/A missense_variant False TTN@p.S7022L 1 0.181818182 ENSG00000155657 chr2:178722883-178722883;G/A missense_variant False TTN@p.S6885F 1 0.172413793 ENSG00000155657 chr2:178723495-178723495;G/A missense_variant False TTN@p.S6559Y 1 0.433333333 ENSG00000155657 chr2:178725577-178725577;G/T missense_variant False TTN@p.S6053L 1 0.375 ENSG00000155657 chr2:178728929-178728929;G/A missense_variant False TTN@p.T517I 1 0.418604651 ENSG00000155657 chr2:178792184-178792184;G/A missense_variant False TTN@p.T7057A 1 0.166666667 ENSG00000155657 chr2:178722779-178722779;T/C missense_variant False TTN@p.T8932M 1 0.136363636 ENSG00000155657 chr2:178712084-178712084;G/A missense_variant False TTN@p.V12059A 1 0.078947368 ENSG00000155657 chr2:178636628-178636628;A/G missense_variant False TTN@p.V14479L 1 0.125 ENSG00000155657 chr2:178615743-178615743;C/G missense_variant False TTN@p.V14946A 1 0.121621622 ENSG00000155657 chr2:178612961-178612961;A/G missense_variant False TTN@p.V16847A 1 0.351485149 ENSG00000155657 chr2:178601534-178601534;A/G missense_variant False TTN@p.V18877L 1 0.323529412 ENSG00000155657 chr2:178590173-178590173;C/G missense_variant False TTN@p.V19102M 1 0.674418605 ENSG00000155657 chr2:178589498-178589498;C/T missense_variant False TTN@p.V19372A 1 0.183823529 ENSG00000155657 chr2:178588687-178588687;A/G missense_variant False TTN@p.V22532A 1 0.734883721 ENSG00000155657 chr2:178573614-178573614;A/G missense_variant False TTN@p.V24430D 1 0.266129032 ENSG00000155657 chr2:178567920-178567920;A/T missense_variant False TTN@p.V24856A 1 0.240924092 ENSG00000155657 chr2:178566642-178566642;A/G missense_variant False TTN@p.V25873I 1 0.455882353 ENSG00000155657 chr2:178563592-178563592;C/T missense_variant False TTN@p.V2693A 1 0.403508772 ENSG00000155657 chr2:178771249-178771249;A/G missense_variant False TTN@p.V29236M 1 0.546391753 ENSG00000155657 chr2:178548997-178548997;C/T missense_variant False TTN@p.V4218F 1 0.35 ENSG00000155657 chr2:178739630-178739630;C/A missense_variant False TTN@p.P11512A 1 0.297709924 ENSG00000155657 chr2:178652530-178652530;G/C missense_variant False TTN@p.P11234H 1 0.272727273 ENSG00000155657 chr2:178672667-178672667;G/T missense_variant False TTN@p.P10265R 1 0.277777778 ENSG00000155657 chr2:178692033-178692033;G/C missense_variant False TTN@p.E32245Q 1 0.710526316 ENSG00000155657 chr2:178534959-178534959;C/G missense_variant False TTN@p.E3809K 1 0.204081633 ENSG00000155657 chr2:178740857-178740857;C/T missense_variant False TTN@p.E33715Q 1 0.835820896 ENSG00000155657 chr2:178530549-178530549;C/G missense_variant False TTN@p.E33555K 1 0.256790123 ENSG00000155657 chr2:178531029-178531029;C/T missense_variant False TTN@p.E33359V 1 0.407407407 ENSG00000155657 chr2:178531616-178531616;T/A missense_variant False TTN@p.E32860D 1 0.371681416 ENSG00000155657 chr2:178533112-178533112;C/G missense_variant False TTN@p.E32850Q 1 0.064102564 ENSG00000155657 chr2:178533144-178533144;C/G missense_variant False TTN@p.E31970K 1 0.19047619 ENSG00000155657 chr2:178535784-178535784;C/T missense_variant False TTN@p.E29540K 1 0.191616766 ENSG00000155657 chr2:178548085-178548085;C/T missense_variant False TTN@p.E31522K 1 0.227272727 ENSG00000155657 chr2:178537720-178537720;C/T missense_variant False TTN@p.E31347K 1 0.461538462 ENSG00000155657 chr2:178538973-178538973;C/T missense_variant False TTN@p.E31326Q 1 0.681818182 ENSG00000155657 chr2:178539036-178539036;C/G missense_variant False TTN@p.E31044K 1 0.105263158 ENSG00000155657 chr2:178540113-178540113;C/T missense_variant False TTN@p.E30098K 1 0.540540541 ENSG00000155657 chr2:178546021-178546021;C/T missense_variant False TTN@p.E29808K 1 0.44982699 ENSG00000155657 chr2:178547180-178547180;C/T missense_variant False TTN@p.E4109K 1 0.317757009 ENSG00000155657 chr2:178739957-178739957;C/T missense_variant False TTN@p.E4167K 1 0.182320442 ENSG00000155657 chr2:178739783-178739783;C/T missense_variant False TTN@p.E5007K 1 0.278688525 ENSG00000155657 chr2:178733323-178733323;C/T missense_variant False TTN@p.E6216Q 1 0.212121212 ENSG00000155657 chr2:178728227-178728227;C/G missense_variant False TTN@p.E7866Q 1 0.158730159 ENSG00000155657 chr2:178718559-178718559;C/G missense_variant False TTN@p.E913K 1 0.382022472 ENSG00000155657 chr2:178784108-178784108;C/T missense_variant False TTN@p.E9622D 1 0.846153846 ENSG00000155657 chr2:178704655-178704655;T/A missense_variant False TTN@p.F1705L 1 0.117647059 ENSG00000155657 chr2:178776749-178776749;G/C missense_variant False TTN@p.F3623L 1 0.315 ENSG00000155657 chr2:178741413-178741413;G/C missense_variant False TTN@p.F5135S 1 0.47826087 ENSG00000155657 chr2:178732706-178732706;A/G missense_variant False TTN@p.G1334R 1 0.540540541 ENSG00000155657 chr2:178779082-178779082;C/T missense_variant False TTN@p.G15570V 1 0.092896175 ENSG00000155657 chr2:178609791-178609791;C/A missense_variant False TTN@p.G16584R 1 0.691176471 ENSG00000155657 chr2:178604014-178604014;C/G missense_variant False TTN@p.G1730C 1 0.081081081 ENSG00000155657 chr2:178776676-178776676;C/A missense_variant False TTN@p.G18365C 1 0.228571429 ENSG00000155657 chr2:178591803-178591803;C/A missense_variant False TTN@p.G20237E 1 0.235294118 ENSG00000155657 chr2:178583170-178583170;C/T missense_variant False TTN@p.G21919D 1 0.495495495 ENSG00000155657 chr2:178575453-178575453;C/T missense_variant False TTN@p.E29805K 1 0.35078534 ENSG00000155657 chr2:178547189-178547189;C/T missense_variant False TTN@p.E29233K 1 0.177570093 ENSG00000155657 chr2:178549006-178549006;C/T missense_variant False TTN@p.G24960V 1 0.29015544 ENSG00000155657 chr2:178566330-178566330;C/A missense_variant False TTN@p.E12813K 1 0.153409091 ENSG00000155657 chr2:178632646-178632646;C/T missense_variant False TTN@p.E14570K 1 0.376811594 ENSG00000155657 chr2:178615314-178615314;C/T missense_variant False TTN@p.E14552K 1 0.35483871 ENSG00000155657 chr2:178615368-178615368;C/T missense_variant False TTN@p.E14385K 1 0.433823529 ENSG00000155657 chr2:178616813-178616813;C/T missense_variant False TTN@p.E13727K 1 0.31147541 ENSG00000155657 chr2:178620419-178620419;C/T missense_variant False TTN@p.E1285Q 1 0.147540984 ENSG00000155657 chr2:178779339-178779339;C/G missense_variant False TTN@p.E12831Q 1 0.101449275 ENSG00000155657 chr2:178632592-178632592;C/G missense_variant False TTN@p.E11658D 1 0.236842105 ENSG00000155657 chr2:178651505-178651505;T/A missense_variant False TTN@p.E29200Q 1 0.360465116 ENSG00000155657 chr2:178549105-178549105;C/G missense_variant False TTN@p.E10933K 1 0.298245614 ENSG00000155657 chr2:178678825-178678825;C/T missense_variant False TTN@p.E10879K 1 0.115384615 ENSG00000155657 chr2:178679677-178679677;C/T missense_variant False TTN@p.E10831K 1 0.367346939 ENSG00000155657 chr2:178680032-178680032;C/T missense_variant False TTN@p.E10816Q 1 0.533898305 ENSG00000155657 chr2:178680275-178680275;C/G missense_variant False TTN@p.E10253Q 1 0.240740741 ENSG00000155657 chr2:178692070-178692070;C/G missense_variant False TTN@p.D8362H 1 0.179039301 ENSG00000155657 chr2:178715151-178715151;C/G missense_variant False TTN@p.E15300K 1 0.350877193 ENSG00000155657 chr2:178611408-178611408;C/T missense_variant False TTN@p.E15551K 1 0.092532468 ENSG00000155657 chr2:178609849-178609849;C/T missense_variant False TTN@p.E15617Q 1 0.152 ENSG00000155657 chr2:178609538-178609538;C/G missense_variant False TTN@p.E16367Q 1 0.217391304 ENSG00000155657 chr2:178605155-178605155;C/G missense_variant False TTN@p.E17154Q 1 0.157894737 ENSG00000155657 chr2:178599410-178599410;C/G missense_variant False TTN@p.E18816K 1 0.112 ENSG00000155657 chr2:178590356-178590356;C/T missense_variant False TTN@p.E1948D 1 0.066666667 ENSG00000155657 chr2:178776020-178776020;C/G missense_variant False TTN@p.E1988K 1 0.219895288 ENSG00000155657 chr2:178775902-178775902;C/T missense_variant False TTN@p.E23206D 1 0.714285714 ENSG00000155657 chr2:178571591-178571591;C/G missense_variant False TTN@p.E23998Q 1 0.230088496 ENSG00000155657 chr2:178569217-178569217;C/G missense_variant False TTN@p.E24908Q 1 0.104166667 ENSG00000155657 chr2:178566487-178566487;C/G missense_variant False TTN@p.E25121K 1 0.283636364 ENSG00000155657 chr2:178565848-178565848;C/T missense_variant False TTN@p.E25501Q 1 0.38 ENSG00000155657 chr2:178564708-178564708;C/G missense_variant False TTN@p.E2553Q 1 0.357142857 ENSG00000155657 chr2:178773307-178773307;C/G missense_variant False TTN@p.E2729Q 1 0.121212121 ENSG00000155657 chr2:178770607-178770607;C/G missense_variant False TTN@p.E27849Q 1 0.357142857 ENSG00000155657 chr2:178554991-178554991;C/G missense_variant False TTN@p.E28543K 1 0.444444444 ENSG00000155657 chr2:178552350-178552350;C/T missense_variant False TTN@p.G24868R 1 0.106557377 ENSG00000155657 chr2:178566607-178566607;C/G missense_variant False TTN@p.G25757S 1 0.218181818 ENSG00000155657 chr2:178563940-178563940;C/T missense_variant False TTN@p.N5263K 1 0.418300654 ENSG00000155657 chr2:178732229-178732229;A/C missense_variant False TTN@p.L19883V 1 0.045822102 ENSG00000155657 chr2:178585174-178585174;G/C missense_variant False TTN@p.L32840V 1 0.328767123 ENSG00000155657 chr2:178533174-178533174;G/C missense_variant False TTN@p.L3242V 1 0.157407407 ENSG00000155657 chr2:178764791-178764791;G/C missense_variant False TTN@p.L27759F 1 0.388888889 ENSG00000155657 chr2:178556954-178556954;C/G missense_variant False TTN@p.L27393F 1 0.243902439 ENSG00000155657 chr2:178558359-178558359;G/A missense_variant False TTN@p.L26132F 1 0.25 ENSG00000155657 chr2:178562813-178562813;C/G missense_variant False TTN@p.L25675F 1 0.393939394 ENSG00000155657 chr2:178564186-178564186;G/A missense_variant False TTN@p.L17209I 1 0.089147287 ENSG00000155657 chr2:178599245-178599245;G/T missense_variant False TTN@p.K6481M 1 0.15625 ENSG00000155657 chr2:178725929-178725929;T/A missense_variant False TTN@p.L16142P 1 0.166666667 ENSG00000155657 chr2:178607254-178607254;A/G missense_variant False TTN@p.L14243V 1 0.4 ENSG00000155657 chr2:178617435-178617435;G/C missense_variant False TTN@p.L13661H 1 0.25 ENSG00000155657 chr2:178620616-178620616;A/T missense_variant False TTN@p.L1355F 1 0.35 ENSG00000155657 chr2:178779019-178779019;G/A missense_variant False TTN@p.L12586V 1 0.338709677 ENSG00000155657 chr2:178633820-178633820;A/C missense_variant False TTN@p.L10577I 1 0.388888889 ENSG00000155657 chr2:178684372-178684372;G/T missense_variant False TTN@p.L32846I 1 0.41958042 ENSG00000155657 chr2:178533156-178533156;G/T missense_variant False TTN@p.L3826I 1 0.196202532 ENSG00000155657 chr2:178740806-178740806;G/T missense_variant False TTN@p.L3935V 1 0.16 ENSG00000155657 chr2:178740479-178740479;G/C missense_variant False TTN@p.L5824V 1 0.128205128 ENSG00000155657 chr2:178729832-178729832;G/C missense_variant False TTN@p.L6015I 1 0.347826087 ENSG00000155657 chr2:178729044-178729044;G/T missense_variant False TTN@p.L8425F 1 0.8 ENSG00000155657 chr2:178714550-178714550;G/A missense_variant False TTN@p.L8659Q 1 0.368421053 ENSG00000155657 chr2:178713207-178713207;A/T missense_variant False TTN@p.M1753T 1 0.310344828 ENSG00000155657 chr2:178776606-178776606;A/G missense_variant False TTN@p.M32927I 1 0.542857143 ENSG00000155657 chr2:178532911-178532911;C/T missense_variant False TTN@p.M6183T 1 0.590909091 ENSG00000155657 chr2:178728325-178728325;A/G missense_variant False TTN@p.M6410I 1 0.064516129 ENSG00000155657 chr2:178727184-178727184;C/T missense_variant False TTN@p.N12164Y 1 0.333333333 ENSG00000155657 chr2:178636158-178636158;T/A missense_variant False TTN@p.N19619K 1 0.166666667 ENSG00000155657 chr2:178587529-178587529;A/T missense_variant False TTN@p.N2505Y 1 0.486486486 ENSG00000155657 chr2:178773543-178773543;T/A missense_variant False TTN@p.N29179Y 1 0.137254902 ENSG00000155657 chr2:178549168-178549168;T/A missense_variant False TTN@p.N31307S 1 0.142857143 ENSG00000155657 chr2:178539092-178539092;T/C missense_variant False TTN@p.N5116Sfs*13 1 0.125 ENSG00000155657 chr2:178732852-178732880;CACTGCTGTCTTTGCTTCCCACGGAATTT/- frameshift_variant False TTN@p.K8571R 1 0.25 ENSG00000155657 chr2:178713995-178713995;T/C missense_variant False TTN@p.K473N 1 0.160493827 ENSG00000155657 chr2:178793521-178793521;C/G missense_variant False TTN@p.G25757V 1 0.229357798 ENSG00000155657 chr2:178563939-178563939;C/A missense_variant False TTN@p.H2163Q 1 0.118421053 ENSG00000155657 chr2:178775375-178775375;G/T missense_variant False TTN@p.I17151K 1 0.26 ENSG00000155657 chr2:178599418-178599418;A/T missense_variant False TTN@p.I14216V 1 0.201834862 ENSG00000155657 chr2:178617782-178617782;T/C missense_variant False TTN@p.H758D 1 0.34939759 ENSG00000155657 chr2:178785946-178785946;G/C missense_variant False TTN@p.H6922N 1 0.288135593 ENSG00000155657 chr2:178723292-178723292;G/T missense_variant False TTN@p.H3289Y 1 0.295597484 ENSG00000155657 chr2:178764650-178764650;G/A missense_variant False TTN@p.H31881Y 1 0.4375 ENSG00000155657 chr2:178536183-178536183;G/A missense_variant False TTN@p.H21638Y 1 0.073170732 ENSG00000155657 chr2:178576297-178576297;G/A missense_variant False TTN@p.K28034R 1 0.37254902 ENSG00000155657 chr2:178554087-178554087;T/C missense_variant False TTN@p.G6738E 1 0.264705882 ENSG00000155657 chr2:178724095-178724095;C/T missense_variant False TTN@p.G6523E 1 0.120689655 ENSG00000155657 chr2:178725803-178725803;C/T missense_variant False TTN@p.G4397S 1 0.189189189 ENSG00000155657 chr2:178738313-178738313;C/T missense_variant False TTN@p.G4267A 1 0.443478261 ENSG00000155657 chr2:178739482-178739482;C/G missense_variant False TTN@p.G29501D 1 0.351351351 ENSG00000155657 chr2:178548201-178548201;C/T missense_variant False TTN@p.G25758C 1 0.260869565 ENSG00000155657 chr2:178563937-178563937;C/A missense_variant False TTN@p.I19837M 1 0.633928571 ENSG00000155657 chr2:178585310-178585310;G/C missense_variant False TTN@p.I24618S 1 0.164948454 ENSG00000155657 chr2:178567356-178567356;A/C missense_variant False TTN@p.I25954F 1 0.315789474 ENSG00000155657 chr2:178563349-178563349;T/A missense_variant False TTN@p.I29366M 1 0.059171598 ENSG00000155657 chr2:178548605-178548605;G/C missense_variant False TTN@p.I839T 1 0.478873239 ENSG00000155657 chr2:178784329-178784329;A/G missense_variant False TTN@p.I8466T 1 0.4 ENSG00000155657 chr2:178714426-178714426;A/G missense_variant False TTN@p.I8522L 1 0.307692308 ENSG00000155657 chr2:178714143-178714143;T/A missense_variant False TTN@p.K11771N 1 0.330769231 ENSG00000155657 chr2:178649878-178649878;C/G missense_variant False TTN@p.K16986N 1 0.406593407 ENSG00000155657 chr2:178601023-178601023;C/G missense_variant False TTN@p.K17355T 1 0.222222222 ENSG00000155657 chr2:178598630-178598630;T/G missense_variant False TTN@p.K18610N 1 0.135440181 ENSG00000155657 chr2:178590972-178590972;C/G missense_variant False TTN@p.K19465T 1 0.566037736 ENSG00000155657 chr2:178588090-178588090;T/G missense_variant False TTN@p.K23520N 1 0.173469388 ENSG00000155657 chr2:178570649-178570649;C/G missense_variant False TTN@p.K24016N 1 0.301801802 ENSG00000155657 chr2:178569161-178569161;C/G missense_variant False TTN@p.K24525N 1 0.301369863 ENSG00000155657 chr2:178567634-178567634;C/G missense_variant False TTN@p.K252T 1 0.352941176 ENSG00000155657 chr2:178799646-178799646;T/G missense_variant False TTN@p.K27725N 1 0.375 ENSG00000155657 chr2:178557056-178557056;C/G missense_variant False TST@p.F153L 1 0.378378378 ENSG00000128311 chr22:37018274-37018274;G/C missense_variant False TSSK6@p.R47Q 1 0.076923077 ENSG00000178093 chr19:19515288-19515288;C/T missense_variant False TRIOBP@p.G2055E 1 0.235294118 ENSG00000100106 chr22:37758089-37758089;G/A missense_variant False TRPC4AP@p.R14L 1 0.388888889 ENSG00000100991 chr20:35092741-35092741;C/A missense_variant False TRPC5@p.S935L 1 0.103448276 ENSG00000072315 chrX:111776431-111776431;G/A missense_variant False TRPC5@p.E966Kfs*47 1 0.534246575 ENSG00000072315 chrX:111776339-111776339;C/- frameshift_variant False TRPC5@p.E549D 1 0.896103896 ENSG00000072315 chrX:111847167-111847167;C/A missense_variant False TRPC5@p.D516H 1 0.492307692 ENSG00000072315 chrX:111847268-111847268;C/G missense_variant False TRPC4AP@p.R637Q 1 0.11971831 ENSG00000100991 chr20:35005721-35005721;C/T missense_variant False TRPC4AP@p.R517C 1 0.106870229 ENSG00000100991 chr20:35008710-35008710;G/A missense_variant False TRPC4@p.S574L 1 0.535714286 ENSG00000133107 chr13:37655251-37655251;G/A missense_variant False TRPC5@p.W434L 1 0.8 ENSG00000072315 chrX:111852374-111852374;C/A missense_variant False TRPC4@p.S207F 1 0.070588235 ENSG00000133107 chr13:37746214-37746214;G/A missense_variant False TRPC4@p.R889L 1 0.268292683 ENSG00000133107 chr13:37637171-37637171;C/A missense_variant False TRPC4@p.N712K 1 0.095238095 ENSG00000133107 chr13:37639115-37639115;G/T missense_variant False TRPC4@p.K49N 1 0.131313131 ENSG00000133107 chr13:37783187-37783187;C/G missense_variant False TRPC4@p.I607M 1 0.326086957 ENSG00000133107 chr13:37655151-37655151;G/C missense_variant False TRPC4@p.G924V 1 0.131147541 ENSG00000133107 chr13:37637066-37637066;C/A missense_variant False TRPC5@p.S943L 1 0.458333333 ENSG00000072315 chrX:111776407-111776407;G/A missense_variant False TRPC6@p.D35H 1 0.352941176 ENSG00000137672 chr11:101583401-101583401;C/G missense_variant False TRPS1@p.H837L 1 0.313432836 ENSG00000104447 chr8:115587152-115587152;T/A missense_variant False TRPC7@p.E95K 1 0.149425287 ENSG00000069018 chr5:136357105-136357105;C/T missense_variant False TRPM1@p.E1427K 1 0.242718447 ENSG00000134160 chr15:31002355-31002355;C/T missense_variant False TRPM1@p.E1222Q 1 0.43902439 ENSG00000134160 chr15:31002970-31002970;C/G missense_variant False TRPM1@p.E111Q 1 0.27027027 ENSG00000134160 chr15:31067975-31067975;C/G missense_variant False TRPC7@p.Y424S 1 0.265957447 ENSG00000069018 chr5:136266294-136266294;T/G missense_variant False TRPC7@p.V507M 1 0.486486486 ENSG00000069018 chr5:136251709-136251709;C/T missense_variant False TRPC7@p.G107V 1 0.125 ENSG00000069018 chr5:136357068-136357068;C/A missense_variant False TRPC7@p.E632K 1 0.259259259 ENSG00000069018 chr5:136231500-136231500;C/T missense_variant False TRPC6@p.E188Q 1 0.551724138 ENSG00000137672 chr11:101504407-101504407;C/G missense_variant False TRPC7@p.D294G 1 0.333333333 ENSG00000069018 chr5:136315679-136315679;T/C missense_variant False TRPC6@p.M801I 1 0.300884956 ENSG00000137672 chr11:101471189-101471189;C/T missense_variant False TRPC6@p.H249R 1 0.112676056 ENSG00000137672 chr11:101504223-101504223;T/C missense_variant False TRPC6@p.F407L 1 0.463414634 ENSG00000137672 chr11:101489009-101489009;G/T missense_variant False TRPC6@p.E509K 1 0.472727273 ENSG00000137672 chr11:101476520-101476520;C/T missense_variant False TRPC6@p.E393Q 1 0.375 ENSG00000137672 chr11:101489053-101489053;C/G missense_variant False TRPC4@p.G651C 1 0.549180328 ENSG00000133107 chr13:37651393-37651393;C/A missense_variant False TRPC4@p.E933D 1 0.41025641 ENSG00000133107 chr13:37637038-37637038;C/A missense_variant False TRPC4@p.E649K 1 0.28 ENSG00000133107 chr13:37651399-37651399;C/T missense_variant False TRPA1@p.L117F 1 0.185185185 ENSG00000104321 chr8:72069118-72069118;G/A missense_variant False TRPA1@p.P949R 1 0.652173913 ENSG00000104321 chr8:72033666-72033666;G/C missense_variant False TRPA1@p.P134S 1 0.355555556 ENSG00000104321 chr8:72069067-72069067;G/A missense_variant False TRPA1@p.N798Y 1 0.25 ENSG00000104321 chr8:72036451-72036451;T/A missense_variant False TRPA1@p.N431I 1 0.333333333 ENSG00000104321 chr8:72055758-72055758;T/A missense_variant False TRPA1@p.L995P 1 0.04587156 ENSG00000104321 chr8:72026027-72026027;A/G missense_variant False TRPA1@p.L313F 1 0.483870968 ENSG00000104321 chr8:72061632-72061632;G/A missense_variant False TRPA1@p.L1117F 1 0.453333333 ENSG00000104321 chr8:72022917-72022917;G/A missense_variant False TRPC4@p.E543K 1 0.084507042 ENSG00000133107 chr13:37663477-37663477;C/T missense_variant False TRPA1@p.I255M 1 0.153846154 ENSG00000104321 chr8:72062841-72062841;G/C missense_variant False TRPA1@p.G505Rfs*7 1 0.112676056 ENSG00000104321 chr8:72055452-72055453;-/T frameshift_variant False TRPA1@p.G283E 1 0.153846154 ENSG00000104321 chr8:72061721-72061721;C/T missense_variant False TRPA1@p.E681Q 1 0.203703704 ENSG00000104321 chr8:72046533-72046533;C/G missense_variant False TRPA1@p.E161D 1 0.301886792 ENSG00000104321 chr8:72065520-72065520;T/A missense_variant False TRPA1@p.E1118Q 1 0.309090909 ENSG00000104321 chr8:72022914-72022914;C/G missense_variant False TRPA1@p.T598M 1 0.24 ENSG00000104321 chr8:72052617-72052617;G/A missense_variant False TRPA1@p.T869S 1 0.205882353 ENSG00000104321 chr8:72034328-72034328;T/A missense_variant False TRPC1@p.A224V 1 0.444444444 ENSG00000144935 chr3:142777670-142777670;C/T missense_variant False TRPC1@p.D257N 1 0.2 ENSG00000144935 chr3:142780838-142780838;G/A missense_variant False TRPC1@p.L225V 1 0.212121212 ENSG00000144935 chr3:142777672-142777672;C/G missense_variant False TRPC1@p.R610I 1 0.215384615 ENSG00000144935 chr3:142804048-142804048;G/T missense_variant False TRPC1@p.R782W 1 0.222222222 ENSG00000144935 chr3:142806197-142806197;C/T missense_variant False TRPC1@p.R792I 1 0.5625 ENSG00000144935 chr3:142806228-142806228;G/T missense_variant False TRPC1@p.W668G 1 0.13559322 ENSG00000144935 chr3:142804478-142804478;T/G missense_variant False TRPC1@p.Y444C 1 0.2 ENSG00000144935 chr3:142791052-142791052;A/G missense_variant False TRPC3@p.A632E 1 0.296116505 ENSG00000138741 chr4:121907465-121907465;G/T missense_variant False TRPC3@p.E325K 1 0.23255814 ENSG00000138741 chr4:121932285-121932285;C/T missense_variant False TRPC3@p.K895N 1 0.255102041 ENSG00000138741 chr4:121879817-121879817;C/G missense_variant False TRPC3@p.Q827K 1 0.173333333 ENSG00000138741 chr4:121899680-121899680;G/T missense_variant False TRPC4@p.A857V 1 0.264150943 ENSG00000133107 chr13:37637267-37637267;G/A missense_variant False TRPC4@p.D274N 1 0.238938053 ENSG00000133107 chr13:37746014-37746014;C/T missense_variant False TRPC4@p.D782N 1 0.152317881 ENSG00000133107 chr13:37637493-37637493;C/T missense_variant False TRPM1@p.E255K 1 0.261538462 ENSG00000134160 chr15:31063254-31063254;C/T missense_variant False TRPM1@p.M112V 1 0.201754386 ENSG00000134160 chr15:31067972-31067972;T/C missense_variant False TRPM1@p.R1183L 1 0.25862069 ENSG00000134160 chr15:31026154-31026154;C/A missense_variant False TRPM6@p.I1937V 1 0.64 ENSG00000119121 chr9:74732704-74732704;T/C missense_variant False TRPM6@p.S407L 1 0.244444444 ENSG00000119121 chr9:74816757-74816757;G/A missense_variant False TRPM6@p.S1757P 1 0.406593407 ENSG00000119121 chr9:74739941-74739941;A/G missense_variant False TRPM6@p.S1562C 1 0.268656716 ENSG00000119121 chr9:74761796-74761796;G/C missense_variant False TRPM6@p.Q1704E 1 0.130434783 ENSG00000119121 chr9:74744119-74744119;G/C missense_variant False TRPM6@p.P1439S 1 0.264705882 ENSG00000119121 chr9:74762356-74762356;G/A missense_variant False TRPM6@p.L1065F 1 0.371794872 ENSG00000119121 chr9:74782376-74782376;C/G missense_variant False TRPM6@p.F948L 1 0.078125 ENSG00000119121 chr9:74785949-74785949;G/T missense_variant False TRPM5@p.E319Q 1 0.25 ENSG00000070985 chr11:2417781-2417781;C/G missense_variant False TRPM6@p.F355L 1 0.810810811 ENSG00000119121 chr9:74820373-74820373;G/C missense_variant False TRPM6@p.D807N 1 0.326530612 ENSG00000119121 chr9:74792743-74792743;C/T missense_variant False TRPM6@p.C1653Y 1 0.230769231 ENSG00000119121 chr9:74752317-74752317;C/T missense_variant False TRPM6@p.C1246W 1 0.370689655 ENSG00000119121 chr9:74762933-74762933;G/C missense_variant False TRPM6@p.C1119F 1 0.333333333 ENSG00000119121 chr9:74775930-74775930;C/A missense_variant False TRPM6@p.A1051V 1 0.151162791 ENSG00000119121 chr9:74782419-74782419;G/A missense_variant False TRPM7@p.E800K 1 0.228915663 ENSG00000092439 chr15:50609844-50609844;C/T missense_variant False TRPM7@p.H1393Y 1 0.108695652 ENSG00000092439 chr15:50592058-50592058;G/A missense_variant False TRPM7@p.L1668P 1 0.419354839 ENSG00000092439 chr15:50574868-50574868;A/G missense_variant False TRPM7@p.N461Y 1 0.3375 ENSG00000092439 chr15:50624225-50624225;T/A missense_variant False TRPM7@p.P1131_F1142del 1 0.236111111 ENSG00000092439 chr15:50594478-50594513;AAACAGAGAAACTATATGGCTAAGAATGATAAGTGG/- inframe_deletion False TRPM7@p.S1855L 1 0.093023256 ENSG00000092439 chr15:50561712-50561712;G/A missense_variant False TRPM7@p.S1860Y 1 0.522727273 ENSG00000092439 chr15:50561697-50561697;G/T missense_variant False TRPM7@p.S348Y 1 0.29787234 ENSG00000092439 chr15:50632957-50632957;G/T missense_variant False TRPM7@p.S683C 1 0.071823204 ENSG00000092439 chr15:50612552-50612552;G/C missense_variant False TRPM7@p.T1743S 1 0.066666667 ENSG00000092439 chr15:50574355-50574355;T/A missense_variant False TRPM8@p.L873F 1 0.342222222 ENSG00000144481 chr2:233983080-233983080;C/T missense_variant False TRPM8@p.R558Q 1 0.384615385 ENSG00000144481 chr2:233963301-233963301;G/A missense_variant False TRPM8@p.S286C 1 0.230769231 ENSG00000144481 chr2:233946013-233946013;C/G missense_variant False TRPM8@p.S351C 1 0.15625 ENSG00000144481 chr2:233950058-233950058;C/G missense_variant False TRPM8@p.S824C 1 0.456140351 ENSG00000144481 chr2:233981797-233981797;C/G missense_variant False TRPS1@p.D655H 1 0.12605042 ENSG00000104447 chr8:115603967-115603967;C/G missense_variant False TRPS1@p.E493K 1 0.066666667 ENSG00000104447 chr8:115604453-115604453;C/T missense_variant False TRPM5@p.R1041K 1 0.133333333 ENSG00000070985 chr11:2406790-2406790;C/T missense_variant False TRPM4@p.S541L 1 0.483870968 ENSG00000130529 chr19:49183091-49183091;C/T missense_variant False TRPM1@p.V443L 1 0.380952381 ENSG00000134160 chr15:31050453-31050453;C/A missense_variant False TRPM2@p.T1014M 1 0.393220339 ENSG00000142185 chr21:44413969-44413969;C/T missense_variant False TRPM3@p.F146I 1 0.530612245 ENSG00000083067 chr9:70862940-70862940;A/T missense_variant False TRPM3@p.E820Q 1 0.212962963 ENSG00000083067 chr9:70615952-70615952;C/G missense_variant False TRPM3@p.E125Q 1 0.3 ENSG00000083067 chr9:70863003-70863003;C/G missense_variant False TRPM3@p.D607N 1 0.088 ENSG00000083067 chr9:70620362-70620362;C/T missense_variant False TRPM3@p.D1190N 1 0.451612903 ENSG00000083067 chr9:70549657-70549657;C/T missense_variant False TRPM3@p.A679T 1 0.260869565 ENSG00000083067 chr9:70620146-70620146;C/T missense_variant False TRPM2@p.S663F 1 0.153846154 ENSG00000142185 chr21:44397802-44397802;C/T missense_variant False TRPM4@p.S206L 1 0.454545455 ENSG00000130529 chr19:49168557-49168557;C/T missense_variant False TRPM2@p.S529F 1 0.112 ENSG00000142185 chr21:44391417-44391417;C/T missense_variant False TRPM2@p.H95Y 1 0.510204082 ENSG00000142185 chr21:44364142-44364142;C/T missense_variant False TRPM2@p.E698K 1 0.485148515 ENSG00000142185 chr21:44399325-44399325;G/A missense_variant False TRPM2@p.E680Q 1 0.333333333 ENSG00000142185 chr21:44397852-44397852;G/C missense_variant False TRPM2@p.E512K 1 0.343137255 ENSG00000142185 chr21:44391365-44391365;G/A missense_variant False TRPM2@p.D289H 1 0.28 ENSG00000142185 chr21:44375926-44375926;G/C missense_variant False TRPM3@p.G582E 1 0.189189189 ENSG00000083067 chr9:70625261-70625261;C/T missense_variant False TRPM3@p.G92V 1 0.547619048 ENSG00000083067 chr9:70863101-70863101;C/A missense_variant False TRPM3@p.I1153V 1 0.093617021 ENSG00000083067 chr9:70552937-70552937;T/C missense_variant False TRPM3@p.I1319T 1 0.076923077 ENSG00000083067 chr9:70537133-70537133;A/G missense_variant False TRPM3@p.M1246I 1 0.238095238 ENSG00000083067 chr9:70537351-70537351;C/T missense_variant False TRPM3@p.P801A 1 0.088888889 ENSG00000083067 chr9:70616009-70616009;G/C missense_variant False TRPM3@p.R1638C 1 0.471698113 ENSG00000083067 chr9:70536177-70536177;G/A missense_variant False TRPM3@p.R431W 1 0.397058824 ENSG00000083067 chr9:70681566-70681566;G/A missense_variant False TRPM3@p.R839Q 1 0.326315789 ENSG00000083067 chr9:70610736-70610736;C/T missense_variant False TRPM3@p.S1345L 1 0.504065041 ENSG00000083067 chr9:70537055-70537055;G/A missense_variant False TRPM3@p.T408S 1 0.193548387 ENSG00000083067 chr9:70761657-70761657;T/A missense_variant False TRPM3@p.Y1642C 1 0.4416 ENSG00000083067 chr9:70536164-70536164;T/C missense_variant False TRPM4@p.F338L 1 0.387755102 ENSG00000130529 chr19:49171733-49171733;C/G missense_variant False TRPM4@p.G650V 1 0.410714286 ENSG00000130529 chr19:49189021-49189021;G/T missense_variant False TRPM4@p.K13N 1 0.17218543 ENSG00000130529 chr19:49158206-49158206;G/T missense_variant False TRPM4@p.R332Q 1 0.458333333 ENSG00000130529 chr19:49171714-49171714;G/A missense_variant False TRPM4@p.R640C 1 0.446494465 ENSG00000130529 chr19:49188990-49188990;C/T missense_variant False TROAP@p.T751Qfs*42 1 0.257142857 ENSG00000135451 chr12:49331365-49331366;CA/- frameshift_variant False TROAP@p.S170C 1 0.226415094 ENSG00000135451 chr12:49325760-49325760;C/G missense_variant False TROAP@p.Q52H 1 0.337209302 ENSG00000135451 chr12:49323856-49323856;G/C missense_variant False TRIT1@p.E127Q 1 0.173076923 ENSG00000043514 chr1:39854005-39854005;C/G missense_variant False TRMO@p.E162K 1 0.605263158 ENSG00000136932 chr9:97910542-97910542;C/T missense_variant False TRIT1@p.S282L 1 0.294478528 ENSG00000043514 chr1:39847631-39847631;G/A missense_variant False TRIT1@p.R8Q 1 0.3 ENSG00000043514 chr1:39883469-39883469;C/T missense_variant False TRIT1@p.R76T 1 0.2 ENSG00000043514 chr1:39857365-39857365;C/G missense_variant False TRIT1@p.R427K 1 0.224 ENSG00000043514 chr1:39841868-39841868;C/T missense_variant False TRIT1@p.R392I 1 0.48 ENSG00000043514 chr1:39844160-39844160;C/A missense_variant False TRIR@p.T138M 1 0.444444444 ENSG00000123144 chr19:12731354-12731354;G/A missense_variant False TRIP13@p.S18L 1 0.133333333 ENSG00000071539 chr5:893051-893051;C/T missense_variant False TRIP6@p.R315C 1 0.134615385 ENSG00000087077 chr7:100870687-100870687;C/T missense_variant False TRIP4@p.S371Y 1 0.15942029 ENSG00000103671 chr15:64414153-64414153;C/A missense_variant False TRIP4@p.S243C 1 0.214285714 ENSG00000103671 chr15:64406360-64406360;C/G missense_variant False TRIP4@p.I263M 1 0.166666667 ENSG00000103671 chr15:64406421-64406421;C/G missense_variant False TRIP4@p.G569A 1 0.155844156 ENSG00000103671 chr15:64455024-64455024;G/C missense_variant False TRIP4@p.D369V 1 0.684210526 ENSG00000103671 chr15:64414147-64414147;A/T missense_variant False TRMO@p.E208K 1 0.875 ENSG00000136932 chr9:97910404-97910404;C/T missense_variant False TRMO@p.E416Q 1 0.103896104 ENSG00000136932 chr9:97904813-97904813;C/G missense_variant False TRMO@p.F397L 1 0.484076433 ENSG00000136932 chr9:97904868-97904868;G/C missense_variant False TRMO@p.H428Y 1 0.192307692 ENSG00000136932 chr9:97904777-97904777;G/A missense_variant False TRMO@p.R389L 1 0.321428571 ENSG00000136932 chr9:97904893-97904893;C/A missense_variant False TRMO@p.S41L 1 0.533333333 ENSG00000136932 chr9:97916293-97916293;G/A missense_variant False TRMO@p.S424F 1 0.110294118 ENSG00000136932 chr9:97904788-97904788;G/A missense_variant False TRMO@p.Y364C 1 0.132653061 ENSG00000136932 chr9:97904968-97904968;T/C missense_variant False TRMT10A@p.V97I 1 0.56 ENSG00000145331 chr4:99558108-99558108;C/T missense_variant False TRMT10B@p.D160H 1 0.43315508 ENSG00000165275 chr9:37768133-37768133;G/C missense_variant False TRMT10B@p.E29K 1 0.25 ENSG00000165275 chr9:37762016-37762016;G/A missense_variant False TRMT10C@p.E53D 1 0.28 ENSG00000174173 chr3:101564940-101564940;G/C missense_variant False TRMT10C@p.L33Nfs*17 1 0.323529412 ENSG00000174173 chr3:101564874-101564878;TAACT/- frameshift_variant False TRMT10C@p.P377A 1 0.379562044 ENSG00000174173 chr3:101565910-101565910;C/G missense_variant False TRMT10C@p.R106T 1 0.072222222 ENSG00000174173 chr3:101565098-101565098;G/C missense_variant False TRMT10C@p.R236I 1 0.096774194 ENSG00000174173 chr3:101565488-101565488;G/T missense_variant False TRMT112@p.E75K 1 0.524590164 ENSG00000173113 chr11:64317105-64317105;C/T missense_variant False TRIP4@p.D172N 1 0.056074766 ENSG00000103671 chr15:64397714-64397714;G/A missense_variant False TRIP13@p.R386W 1 0.248322148 ENSG00000071539 chr5:915926-915926;C/T missense_variant False TRMT112@p.L81V 1 0.3 ENSG00000173113 chr11:64317087-64317087;G/C missense_variant False TRIP10@p.A43G 1 0.136363636 ENSG00000125733 chr19:6741113-6741113;C/G missense_variant False TRIP11@p.G6E 1 0.291666667 ENSG00000100815 chr14:92039669-92039669;C/T missense_variant False TRIP11@p.G6A 1 0.294117647 ENSG00000100815 chr14:92039669-92039669;C/G missense_variant False TRIP11@p.E868Q 1 0.259615385 ENSG00000100815 chr14:92005374-92005374;C/G missense_variant False TRIP11@p.D884N 1 0.08 ENSG00000100815 chr14:92005326-92005326;C/T missense_variant False TRIP10@p.R479L 1 0.215384615 ENSG00000125733 chr19:6750332-6750332;G/T missense_variant False TRIP10@p.E556K 1 0.101694915 ENSG00000125733 chr19:6751071-6751071;G/A missense_variant False TRIOBP@p.S922C 1 0.068965517 ENSG00000100106 chr22:37725321-37725321;C/G missense_variant False TRIP13@p.L369F 1 0.252830189 ENSG00000071539 chr5:914551-914551;G/C missense_variant False TRIOBP@p.S1252F 1 0.088709677 ENSG00000100106 chr22:37726311-37726311;C/T missense_variant False TRIOBP@p.R899C 1 0.190140845 ENSG00000100106 chr22:37725251-37725251;C/T missense_variant False TRIOBP@p.R735C 1 0.183098592 ENSG00000100106 chr22:37724759-37724759;C/T missense_variant False TRIOBP@p.R2242C 1 0.416666667 ENSG00000100106 chr22:37769176-37769176;C/T missense_variant False TRIOBP@p.L2205Q 1 0.104477612 ENSG00000100106 chr22:37769066-37769066;T/A missense_variant False TRIOBP@p.I667M 1 0.264705882 ENSG00000100106 chr22:37724557-37724557;C/G missense_variant False TRIP11@p.K926N 1 0.05 ENSG00000100815 chr14:92005198-92005198;C/A missense_variant False TRIP11@p.Q692E 1 0.16 ENSG00000100815 chr14:92005902-92005902;G/C missense_variant False TRIP11@p.Q987E 1 0.301886792 ENSG00000100815 chr14:92005017-92005017;G/C missense_variant False TRIP11@p.S659L 1 0.275 ENSG00000100815 chr14:92006000-92006000;G/A missense_variant False TRIP11@p.T977Nfs*5 1 0.129032258 ENSG00000100815 chr14:92005046-92005047;-/T frameshift_variant False TRIP12@p.E741V 1 0.357142857 ENSG00000153827 chr2:229807838-229807838;T/A missense_variant False TRIP12@p.Q147H 1 0.224806202 ENSG00000153827 chr2:229859232-229859232;C/A missense_variant False TRIP12@p.R1595Q 1 0.408163265 ENSG00000153827 chr2:229785842-229785842;C/T missense_variant False TRIP12@p.R1613L 1 0.333333333 ENSG00000153827 chr2:229785788-229785788;C/A missense_variant False TRIP12@p.S1196C 1 0.228571429 ENSG00000153827 chr2:229796595-229796595;G/C missense_variant False TRIP12@p.S124C 1 0.245614035 ENSG00000153827 chr2:229859302-229859302;G/C missense_variant False TRIP12@p.S1381I 1 0.156996587 ENSG00000153827 chr2:229791914-229791914;C/A missense_variant False TRIP12@p.S257F 1 0.25 ENSG00000153827 chr2:229858903-229858903;G/A missense_variant False TRIP13@p.E113Q 1 0.285714286 ENSG00000071539 chr5:896743-896743;G/C missense_variant False TRIP13@p.E17K 1 0.25 ENSG00000071539 chr5:893047-893047;G/A missense_variant False TRIP13@p.E24D 1 0.407407407 ENSG00000071539 chr5:893070-893070;G/T missense_variant False TRIP13@p.I432N 1 0.147058824 ENSG00000071539 chr5:917099-917099;T/A missense_variant False TRMT112@p.E95Gfs*19 1 0.35483871 ENSG00000173113 chr11:64316936-64316955;CGGGCACTGCAGGGTGCCCT/- frameshift_variant False TRMT112@p.V16Wfs*30 1 0.296296296 ENSG00000173113 chr11:64317481-64317481;C/- frameshift_variant False TROAP@p.L279V 1 0.129943503 ENSG00000135451 chr12:49327274-49327274;C/G missense_variant False TRMT61B@p.D104Y 1 0.142857143 ENSG00000171103 chr2:28869968-28869968;C/A missense_variant False TRMT6@p.I124L 1 0.428571429 ENSG00000089195 chr20:5944250-5944250;T/A missense_variant False TRMT6@p.E287K 1 0.146341463 ENSG00000089195 chr20:5942595-5942595;C/T missense_variant False TRMT61B@p.S123L 1 0.296296296 ENSG00000171103 chr2:28869910-28869910;G/A missense_variant False TRMT61B@p.Q422E 1 0.818181818 ENSG00000171103 chr2:28851120-28851120;G/C missense_variant False TRMT61B@p.G353D 1 0.191666667 ENSG00000171103 chr2:28852435-28852435;C/T missense_variant False TRMT61B@p.E53Q 1 0.14516129 ENSG00000171103 chr2:28870121-28870121;C/G missense_variant False TRMT61A@p.F3L 1 0.222222222 ENSG00000166166 chr14:103529987-103529987;C/G missense_variant False TRMT5@p.D424H 1 0.451612903 ENSG00000126814 chr14:60975649-60975649;C/G missense_variant False TRMT5@p.Y272C 1 0.23880597 ENSG00000126814 chr14:60976104-60976104;T/C missense_variant False TRMT5@p.S77F 1 0.422222222 ENSG00000126814 chr14:60979668-60979668;G/A missense_variant False TRMT5@p.N454S 1 0.156626506 ENSG00000126814 chr14:60975558-60975558;T/C missense_variant False TRMT5@p.K334Q 1 0.438356164 ENSG00000126814 chr14:60975919-60975919;T/G missense_variant False TRMT5@p.I5M 1 0.210526316 ENSG00000126814 chr14:60979883-60979883;G/C missense_variant False TRMT5@p.E67Q 1 0.564356436 ENSG00000126814 chr14:60979699-60979699;C/G missense_variant False TRMT6@p.K339R 1 0.604166667 ENSG00000089195 chr20:5942438-5942438;T/C missense_variant False TRMT6@p.R238W 1 0.148288973 ENSG00000089195 chr20:5942742-5942742;G/A missense_variant False TRMU@p.P97A 1 0.166666667 ENSG00000100416 chr22:46343302-46343302;C/G missense_variant False TRNAU1AP@p.C48Y 1 0.372881356 ENSG00000180098 chr1:28560650-28560650;G/A missense_variant False TRNAU1AP@p.D238H 1 0.311688312 ENSG00000180098 chr1:28571885-28571885;G/C missense_variant False TRNT1@p.D163H 1 0.23364486 ENSG00000072756 chr3:3144589-3144589;G/C missense_variant False TRNT1@p.E193Q 1 0.470588235 ENSG00000072756 chr3:3144679-3144679;G/C missense_variant False TRO@p.M58V 1 0.435897436 ENSG00000067445 chrX:54922704-54922704;A/G missense_variant False TRO@p.M618I 1 0.315789474 ENSG00000067445 chrX:54927757-54927757;G/A missense_variant False TRO@p.R488P 1 0.432432432 ENSG00000067445 chrX:54925046-54925046;G/C missense_variant False TRO@p.S829C 1 0.891304348 ENSG00000067445 chrX:54929210-54929210;C/G missense_variant False TRO@p.V620I 1 0.157894737 ENSG00000067445 chrX:54927761-54927761;G/A missense_variant False TROAP@p.D301N 1 0.259259259 ENSG00000135451 chr12:49328936-49328936;G/A missense_variant False TROAP@p.D383H 1 0.269662921 ENSG00000135451 chr12:49329437-49329437;G/C missense_variant False TROAP@p.E474K 1 0.267175573 ENSG00000135451 chr12:49330265-49330265;G/A missense_variant False TROAP@p.E565D 1 0.205128205 ENSG00000135451 chr12:49330540-49330540;G/T missense_variant False TROAP@p.L260F 1 0.180952381 ENSG00000135451 chr12:49327217-49327217;C/T missense_variant False TRMT5@p.E377Q 1 0.273684211 ENSG00000126814 chr14:60975790-60975790;C/G missense_variant False TRMT44@p.P429S 1 0.195652174 ENSG00000155275 chr4:8464066-8464066;C/T missense_variant False TRMT11@p.A176V 1 0.269230769 ENSG00000066651 chr6:125999461-125999461;C/T missense_variant False TRMT12@p.V272F 1 0.130718954 ENSG00000183665 chr8:124451741-124451741;G/T missense_variant False TRMT1@p.E71K 1 0.475728155 ENSG00000104907 chr19:13116189-13116189;C/T missense_variant False TRMT1@p.E59K 1 0.23255814 ENSG00000104907 chr19:13116225-13116225;C/T missense_variant False TRMT1@p.E289K 1 0.256756757 ENSG00000104907 chr19:13112710-13112710;C/T missense_variant False TRMT1@p.E109Q 1 0.243654822 ENSG00000104907 chr19:13115754-13115754;C/G missense_variant False TRMT13@p.T3S 1 0.423728814 ENSG00000122435 chr1:100133176-100133176;C/G missense_variant False TRMT13@p.D402N 1 0.12254902 ENSG00000122435 chr1:100148280-100148280;G/A missense_variant False TRMT12@p.S102L 1 0.401960784 ENSG00000183665 chr8:124451232-124451232;C/T missense_variant False TRMT2B@p.W384C 1 0.111111111 ENSG00000188917 chrX:101020503-101020503;C/G missense_variant False TRMT12@p.Q408E 1 0.578947368 ENSG00000183665 chr8:124452149-124452149;C/G missense_variant False TRMT12@p.E340K 1 0.5 ENSG00000183665 chr8:124451945-124451945;G/A missense_variant False TRMT12@p.E110Q 1 0.409836066 ENSG00000183665 chr8:124451255-124451255;G/C missense_variant False TRMT12@p.D293H 1 0.511764706 ENSG00000183665 chr8:124451804-124451804;G/C missense_variant False TRMT12@p.A263V 1 0.041666667 ENSG00000183665 chr8:124451715-124451715;C/T missense_variant False TRMT11@p.H192R 1 0.673469388 ENSG00000066651 chr6:125999509-125999509;A/G missense_variant False TRMT1@p.K283N 1 0.171428571 ENSG00000104907 chr19:13112726-13112726;C/A missense_variant False TRMT1@p.R544Q 1 0.167664671 ENSG00000104907 chr19:13105559-13105559;C/T missense_variant False TRMT1@p.S4W 1 0.563829787 ENSG00000104907 chr19:13116389-13116389;G/C missense_variant False TRMT1L@p.A36T 1 0.695652174 ENSG00000121486 chr1:185156607-185156607;C/T missense_variant False TRMT1L@p.A5G 1 0.25 ENSG00000121486 chr1:185156699-185156699;G/C missense_variant False TRMT1L@p.D281H 1 0.11627907 ENSG00000121486 chr1:185143375-185143375;C/G missense_variant False TRMT1L@p.E568Q 1 0.210526316 ENSG00000121486 chr1:185125001-185125001;C/G missense_variant False TRMT1L@p.G284A 1 0.187878788 ENSG00000121486 chr1:185143365-185143365;C/G missense_variant False TRMT1L@p.L688I 1 0.467455621 ENSG00000121486 chr1:185120159-185120159;G/T missense_variant False TRMT2A@p.D6H 1 0.428571429 ENSG00000099899 chr22:20116891-20116891;C/G missense_variant False TRMT2A@p.E340K 1 0.4 ENSG00000099899 chr22:20114864-20114864;C/T missense_variant False TRMT2A@p.E385Q 1 0.188888889 ENSG00000099899 chr22:20114654-20114654;C/G missense_variant False TRMT2A@p.E490K 1 0.487804878 ENSG00000099899 chr22:20113199-20113199;C/T missense_variant False TRMT2A@p.E587Q 1 0.134615385 ENSG00000099899 chr22:20112682-20112682;C/G missense_variant False TRMT2A@p.R156Q 1 0.285714286 ENSG00000099899 chr22:20116170-20116170;C/T missense_variant False TRMT2A@p.R82G 1 0.166666667 ENSG00000099899 chr22:20116393-20116393;G/C missense_variant False TRMT2B@p.E376Q 1 0.555555556 ENSG00000188917 chrX:101020529-101020529;C/G missense_variant False TRPS1@p.G914R 1 0.295081967 ENSG00000104447 chr8:115418374-115418374;C/T missense_variant False TRPS1@p.K151N 1 0.326086957 ENSG00000104447 chr8:115619606-115619606;C/A missense_variant False TSSK6@p.E20D 1 0.282258065 ENSG00000178093 chr19:19515368-19515368;C/G missense_variant False TSNARE1@p.R8C 1 0.153005464 ENSG00000171045 chr8:142354703-142354703;G/A missense_variant False TSNAX@p.K164Sfs*4 1 0.256410256 ENSG00000116918 chr1:231561245-231561249;AAAAT/- frameshift_variant False TSNAX@p.G110W 1 0.066666667 ENSG00000116918 chr1:231542572-231542572;G/T missense_variant False TSNAX@p.E238K 1 0.230088496 ENSG00000116918 chr1:231564744-231564744;G/A missense_variant False TSNARE1@p.V316A 1 0.330097087 ENSG00000171045 chr8:142318581-142318581;A/G missense_variant False TSNARE1@p.S466W 1 0.272727273 ENSG00000171045 chr8:142274830-142274830;G/C missense_variant False TSNARE1@p.S347L 1 0.133333333 ENSG00000171045 chr8:142315037-142315037;G/A missense_variant False TSN@p.S142L 1 0.625 ENSG00000211460 chr2:121763056-121763056;C/T missense_variant False TSNAXIP1@p.E356K 1 0.514285714 ENSG00000102904 chr16:67826235-67826235;G/A missense_variant False TSLP@p.P86S 1 0.805555556 ENSG00000145777 chr5:111073550-111073550;C/T missense_variant False TSLP@p.E96D 1 0.475409836 ENSG00000145777 chr5:111073582-111073582;A/C missense_variant False TSLP@p.C34S 1 0.363636364 ENSG00000145777 chr5:111071990-111071990;T/A missense_variant False TSKU@p.Y209Lfs*36 1 0.215686275 ENSG00000182704 chr11:76796239-76796240;-/C frameshift_variant False TSKU@p.T153M 1 0.286956522 ENSG00000182704 chr11:76796074-76796074;C/T missense_variant False TSKU@p.S147L 1 0.182926829 ENSG00000182704 chr11:76796056-76796056;C/T missense_variant False TSNAXIP1@p.D200N 1 0.242424242 ENSG00000102904 chr16:67825218-67825218;G/A missense_variant False TSNAXIP1@p.E498Q 1 0.470588235 ENSG00000102904 chr16:67827062-67827062;G/C missense_variant False TRPS1@p.K670N 1 0.491803279 ENSG00000104447 chr8:115603920-115603920;T/A missense_variant False TSPAN14@p.R135L 1 0.126760563 ENSG00000108219 chr10:80509425-80509425;G/T missense_variant False TSPAN18@p.E216K 1 0.072423398 ENSG00000157570 chr11:44926704-44926704;G/A missense_variant False TSPAN16@p.V118L 1 0.25 ENSG00000130167 chr19:11301210-11301210;G/T missense_variant False TSPAN16@p.Q200H 1 0.163636364 ENSG00000130167 chr19:11306753-11306753;G/C missense_variant False TSPAN16@p.G155W 1 0.385714286 ENSG00000130167 chr19:11306616-11306616;G/T missense_variant False TSPAN15@p.I225M 1 0.574766355 ENSG00000099282 chr10:69506180-69506180;C/G missense_variant False TSPAN15@p.G157W 1 0.471698113 ENSG00000099282 chr10:69498295-69498295;G/T missense_variant False TSPAN14@p.E226Q 1 0.345454545 ENSG00000108219 chr10:80516258-80516258;G/C missense_variant False TSNAXIP1@p.E521K 1 0.25 ENSG00000102904 chr16:67827307-67827307;G/A missense_variant False TSPAN13@p.R119Q 1 0.468085106 ENSG00000106537 chr7:16777841-16777841;G/A missense_variant False TSPAN12@p.W113Ifs*2 1 0.088235294 ENSG00000106025 chr7:120815748-120815752;GTCCA/- frameshift_variant False TSPAN12@p.S275L 1 0.862385321 ENSG00000106025 chr7:120788686-120788686;G/A missense_variant False TSPAN10@p.L150M 1 0.470588235 ENSG00000182612 chr17:81645289-81645289;C/A missense_variant False TSNAXIP1@p.V649M 1 0.375 ENSG00000102904 chr16:67827961-67827961;G/A missense_variant False TSNAXIP1@p.G333C 1 0.3 ENSG00000102904 chr16:67826166-67826166;G/T missense_variant False TSKU@p.E244K 1 0.271929825 ENSG00000182704 chr11:76796346-76796346;G/A missense_variant False TSKS@p.R443L 1 0.22 ENSG00000126467 chr19:49744264-49744264;C/A missense_variant False TSKS@p.Q492H 1 0.383647799 ENSG00000126467 chr19:49741906-49741906;C/A missense_variant False TSHZ1@p.E640K 1 0.168316832 ENSG00000179981 chr18:75287325-75287325;G/A missense_variant False TSHZ2@p.T472N 1 0.270386266 ENSG00000182463 chr20:53254873-53254873;C/A missense_variant False TSHZ2@p.S183F 1 0.405940594 ENSG00000182463 chr20:53254006-53254006;C/T missense_variant False TSHZ2@p.Q347E 1 0.204081633 ENSG00000182463 chr20:53254497-53254497;C/G missense_variant False TSHZ2@p.E1033Q 1 0.072916667 ENSG00000182463 chr20:53256555-53256555;G/C missense_variant False TSHZ2@p.E1033K 1 0.662857143 ENSG00000182463 chr20:53256555-53256555;G/A missense_variant False TSHZ2@p.D452H 1 0.385650224 ENSG00000182463 chr20:53254812-53254812;G/C missense_variant False TSHZ1@p.E49K 1 0.086956522 ENSG00000179981 chr18:75285552-75285552;G/A missense_variant False TSKS@p.K497N 1 0.369565217 ENSG00000126467 chr19:49741891-49741891;C/G missense_variant False TSHZ1@p.E462K 1 0.317073171 ENSG00000179981 chr18:75286791-75286791;G/A missense_variant False TSHR@p.R519C 1 0.383333333 ENSG00000165409 chr14:81143613-81143613;C/T missense_variant True TSHR@p.L6F 1 0.118721461 ENSG00000165409 chr14:80955698-80955698;G/C missense_variant True TSHR@p.F461L 1 0.267175573 ENSG00000165409 chr14:81143441-81143441;C/G missense_variant True TSHR@p.E35K 1 0.064516129 ENSG00000165409 chr14:80955783-80955783;G/A missense_variant True TSHR@p.E247K 1 0.177419355 ENSG00000165409 chr14:81139725-81139725;G/A missense_variant True TSHZ2@p.V401F 1 0.2 ENSG00000182463 chr20:53254659-53254659;G/T missense_variant False TSHZ3@p.D350N 1 0.22826087 ENSG00000121297 chr19:31278745-31278745;C/T missense_variant False TSHZ3@p.D791Y 1 0.567164179 ENSG00000121297 chr19:31277422-31277422;C/A missense_variant False TSHZ3@p.E483D 1 0.231270358 ENSG00000121297 chr19:31278344-31278344;C/G missense_variant False TSHZ3@p.E693K 1 0.152777778 ENSG00000121297 chr19:31277716-31277716;C/T missense_variant False TSHZ3@p.L1073P 1 0.180851064 ENSG00000121297 chr19:31276575-31276575;A/G missense_variant False TSHZ3@p.N853I 1 0.203252033 ENSG00000121297 chr19:31277235-31277235;T/A missense_variant False TSHZ3@p.P464T 1 0.057377049 ENSG00000121297 chr19:31278403-31278403;G/T missense_variant False TSHZ3@p.Q117H 1 0.431192661 ENSG00000121297 chr19:31279442-31279442;C/A missense_variant False TSHZ3@p.Q726K 1 0.172413793 ENSG00000121297 chr19:31277617-31277617;G/T missense_variant False TSHZ3@p.R894C 1 0.06779661 ENSG00000121297 chr19:31277113-31277113;G/A missense_variant False TSHZ3@p.S158R 1 0.132075472 ENSG00000121297 chr19:31279319-31279319;G/C missense_variant False TSHZ3@p.S62Y 1 0.260869565 ENSG00000121297 chr19:31279608-31279608;G/T missense_variant False TSHZ3@p.Y1041F 1 0.162790698 ENSG00000121297 chr19:31276671-31276671;T/A missense_variant False TSKS@p.A43V 1 0.230769231 ENSG00000126467 chr19:49763120-49763120;G/A missense_variant False TSKS@p.E525K 1 0.617391304 ENSG00000126467 chr19:49740108-49740108;C/T missense_variant False TSKS@p.G575V 1 0.108527132 ENSG00000126467 chr19:49739831-49739831;C/A missense_variant False TSPAN1@p.L240V 1 0.157024793 ENSG00000117472 chr1:46185525-46185525;C/G missense_variant False TSPAN1@p.T119A 1 0.115384615 ENSG00000117472 chr1:46184800-46184800;A/G missense_variant False TSPAN2@p.S156R 1 0.090643275 ENSG00000134198 chr1:115057585-115057585;G/C missense_variant False TSPYL6@p.D63V 1 0.494252874 ENSG00000178021 chr2:54255964-54255964;T/A missense_variant False TSR1@p.G109A 1 0.833333333 ENSG00000167721 chr17:2335606-2335606;C/G missense_variant False TSR1@p.E442K 1 0.230088496 ENSG00000167721 chr17:2332341-2332341;C/T missense_variant False TSR1@p.E265Q 1 0.184931507 ENSG00000167721 chr17:2334660-2334660;C/G missense_variant False TSR1@p.D756H 1 0.825396825 ENSG00000167721 chr17:2324345-2324345;C/G missense_variant False TSPYL6@p.R178T 1 0.084158416 ENSG00000178021 chr2:54255619-54255619;C/G missense_variant False TSPYL6@p.M265I 1 0.569536424 ENSG00000178021 chr2:54255357-54255357;C/T missense_variant False TSPYL5@p.S113L 1 0.45 ENSG00000180543 chr8:97277507-97277507;G/A missense_variant False TSPYL1@p.L265V 1 0.078431373 ENSG00000189241 chr6:116279038-116279038;G/C missense_variant False TSPYL5@p.F296L 1 0.138297872 ENSG00000180543 chr8:97276957-97276957;G/C missense_variant False TSPYL5@p.E361K 1 0.106598985 ENSG00000180543 chr8:97276764-97276764;C/T missense_variant False TSPYL4@p.R277W 1 0.139534884 ENSG00000187189 chr6:116253180-116253180;T/A missense_variant False TSPYL4@p.D22N 1 0.15 ENSG00000187189 chr6:116253945-116253945;C/T missense_variant False TSPYL2@p.E638K 1 0.142857143 ENSG00000184205 chrX:53086304-53086304;G/A missense_variant False TSPYL2@p.E491K 1 0.238095238 ENSG00000184205 chrX:53085863-53085863;G/A missense_variant False TSR1@p.H4Q 1 0.416666667 ENSG00000167721 chr17:2336416-2336416;G/C missense_variant False TSR1@p.N266S 1 0.244897959 ENSG00000167721 chr17:2334656-2334656;T/C missense_variant False TSR1@p.R56C 1 0.368421053 ENSG00000167721 chr17:2336072-2336072;G/A missense_variant False TSR3@p.G209S 1 0.333333333 ENSG00000007520 chr16:1350136-1350136;C/T missense_variant False TSSC4@p.D169N 1 0.444444444 ENSG00000184281 chr11:2403138-2403138;G/A missense_variant False TSSK1B@p.D145H 1 0.12195122 ENSG00000212122 chr5:113434407-113434407;C/G missense_variant False TSSK1B@p.E301K 1 0.355555556 ENSG00000212122 chr5:113433939-113433939;C/T missense_variant False TSSK1B@p.S178L 1 0.210526316 ENSG00000212122 chr5:113434307-113434307;G/A missense_variant False TSSK1B@p.V94I 1 0.324324324 ENSG00000212122 chr5:113434560-113434560;C/T missense_variant False TSSK2@p.E230K 1 0.283950617 ENSG00000206203 chr22:19132087-19132087;G/A missense_variant False TSSK3@p.D187V 1 0.148514851 ENSG00000162526 chr1:32364009-32364009;A/T missense_variant False TSSK3@p.G19A 1 0.245454545 ENSG00000162526 chr1:32362757-32362757;G/C missense_variant False TSSK3@p.L5M 1 0.131147541 ENSG00000162526 chr1:32362714-32362714;C/A missense_variant False TSSK3@p.Q117H 1 0.333333333 ENSG00000162526 chr1:32363800-32363800;G/C missense_variant False TSSK4@p.D63N 1 0.305555556 ENSG00000139908 chr14:24206110-24206110;G/A missense_variant False TSSK4@p.L102V 1 0.121621622 ENSG00000139908 chr14:24206587-24206587;C/G missense_variant False TSSK6@p.D216H 1 0.121212121 ENSG00000178093 chr19:19514782-19514782;C/G missense_variant False TSPYL1@p.R262P 1 0.202380952 ENSG00000189241 chr6:116279046-116279046;C/G missense_variant False TSPYL1@p.K156N 1 0.759259259 ENSG00000189241 chr6:116279363-116279363;C/G missense_variant False TSPAN32@p.R180I 1 0.6 ENSG00000064201 chr11:2314567-2314567;G/T missense_variant False TSPAN7@p.R82C 1 0.333333333 ENSG00000156298 chrX:38666283-38666283;C/T missense_variant False TSPEAR@p.D255N 1 0.2 ENSG00000175894 chr21:44529825-44529825;C/T missense_variant False TSPEAR@p.D136Vfs*116 1 0.275862069 ENSG00000175894 chr21:44533807-44533820;GGCGCCGGCCGTGT/- frameshift_variant False TSPAN9@p.W138C 1 0.176470588 ENSG00000011105 chr12:3280465-3280465;G/C missense_variant False TSPAN9@p.V204L 1 0.181818182 ENSG00000011105 chr12:3281779-3281779;G/C missense_variant False TSPAN8@p.L25F 1 0.107142857 ENSG00000127324 chr12:71144199-71144199;C/G missense_variant False TSPAN8@p.L121V 1 0.284210526 ENSG00000127324 chr12:71138036-71138036;G/C missense_variant False TSPAN7@p.N158Y 1 0.306818182 ENSG00000156298 chrX:38675735-38675735;A/T missense_variant False TSPYL1@p.E207K 1 0.894736842 ENSG00000189241 chr6:116279212-116279212;C/T missense_variant False TSPAN6@p.V192E 1 0.306122449 ENSG00000000003 chrX:100633415-100633415;A/T missense_variant False TSPAN5@p.F240V 1 0.197183099 ENSG00000168785 chr4:98476212-98476212;A/C missense_variant False TSPAN4@p.A75V 1 0.275 ENSG00000214063 chr11:862710-862710;C/T missense_variant False TSPAN3@p.D191Y 1 0.176470588 ENSG00000140391 chr15:77052791-77052791;C/A missense_variant False TSPAN3@p.D132N 1 0.545454545 ENSG00000140391 chr15:77054216-77054216;C/T missense_variant False TSPAN33@p.D176N 1 0.216080402 ENSG00000158457 chr7:129166844-129166844;G/A missense_variant False TSPEAR@p.I48V 1 0.336734694 ENSG00000175894 chr21:44567946-44567946;T/C missense_variant False TSPEAR@p.R425Q 1 0.365384615 ENSG00000175894 chr21:44525715-44525715;C/T missense_variant False TSPOAP1@p.A1182V 1 0.266666667 ENSG00000005379 chr17:58310666-58310666;G/A missense_variant False TSPOAP1@p.C1199Y 1 0.428571429 ENSG00000005379 chr17:58310615-58310615;C/T missense_variant False TSPOAP1@p.E104K 1 0.530120482 ENSG00000005379 chr17:58327611-58327611;C/T missense_variant False TSPOAP1@p.E1813K 1 0.454545455 ENSG00000005379 chr17:58305168-58305168;C/T missense_variant False TSPOAP1@p.E672D 1 0.408450704 ENSG00000005379 chr17:58316105-58316105;C/A missense_variant False TSPOAP1@p.G905S 1 0.488372093 ENSG00000005379 chr17:58312108-58312108;C/T missense_variant False TSPOAP1@p.Q942E 1 0.0625 ENSG00000005379 chr17:58311997-58311997;G/C missense_variant False TSPOAP1@p.R1405Q 1 0.417391304 ENSG00000005379 chr17:58309058-58309058;C/T missense_variant False TSPOAP1@p.S897F 1 0.54 ENSG00000005379 chr17:58312131-58312131;G/A missense_variant False TSPOAP1@p.Y1022D 1 0.253968254 ENSG00000005379 chr17:58311588-58311588;A/C missense_variant False TSPYL1@p.D118N 1 0.576923077 ENSG00000189241 chr6:116279479-116279479;C/T missense_variant False TSPYL1@p.E149K 1 0.701754386 ENSG00000189241 chr6:116279386-116279386;C/T missense_variant False TSPYL1@p.E149Q 1 0.12371134 ENSG00000189241 chr6:116279386-116279386;C/G missense_variant False TSPYL1@p.E151K 1 0.322033898 ENSG00000189241 chr6:116279380-116279380;C/T missense_variant False TSPYL1@p.E169K 1 0.394736842 ENSG00000189241 chr6:116279326-116279326;C/T missense_variant False TSHR@p.D460N 1 0.130434783 ENSG00000165409 chr14:81143436-81143436;G/A missense_variant True TSGA13@p.P161L 1 0.063829787 ENSG00000213265 chr7:130672782-130672782;G/A missense_variant False TSGA13@p.M216I 1 0.18627451 ENSG00000213265 chr7:130671671-130671671;C/T missense_variant False TRRAP@p.E1496Q 1 0.223404255 ENSG00000196367 chr7:98945759-98945759;G/C missense_variant False TRRAP@p.E2460K 1 0.2 ENSG00000196367 chr7:98967585-98967585;G/A missense_variant False TRRAP@p.E2356K 1 0.546511628 ENSG00000196367 chr7:98965806-98965806;G/A missense_variant False TRRAP@p.E205Q 1 0.16 ENSG00000196367 chr7:98897846-98897846;G/C missense_variant False TRRAP@p.E1953K 1 0.26 ENSG00000196367 chr7:98955245-98955245;G/A missense_variant False TRRAP@p.E1800Q 1 0.220543807 ENSG00000196367 chr7:98950960-98950960;G/C missense_variant False TRRAP@p.E1786K 1 0.150141643 ENSG00000196367 chr7:98950918-98950918;G/A missense_variant False TRRAP@p.E1419K 1 0.103092784 ENSG00000196367 chr7:98937671-98937671;G/A missense_variant False TRPV6@p.E148K 1 0.434782609 ENSG00000165125 chr7:142877678-142877678;C/T missense_variant False TRRAP@p.E1346K 1 0.166666667 ENSG00000196367 chr7:98935600-98935600;G/A missense_variant False TRRAP@p.D3410H 1 0.297213622 ENSG00000196367 chr7:98994809-98994809;G/C missense_variant False TRRAP@p.D2798N 1 0.296 ENSG00000196367 chr7:98978238-98978238;G/A missense_variant False TRRAP@p.A398T 1 0.533333333 ENSG00000196367 chr7:98908804-98908804;G/A missense_variant False TRPV6@p.R650C 1 0.333333333 ENSG00000165125 chr7:142872439-142872439;G/A missense_variant False TRPV6@p.Q114H 1 0.22 ENSG00000165125 chr7:142877933-142877933;C/G missense_variant False TRRAP@p.E2879Q 1 0.380952381 ENSG00000196367 chr7:98981790-98981790;G/C missense_variant False TRRAP@p.E369K 1 0.125 ENSG00000196367 chr7:98906245-98906245;G/A missense_variant False TRRAP@p.E3787Q 1 0.255319149 ENSG00000196367 chr7:99012134-99012134;G/C missense_variant False TRRAP@p.E956K 1 0.406779661 ENSG00000196367 chr7:98925154-98925154;G/A missense_variant False TRRAP@p.G1723R 1 0.051948052 ENSG00000196367 chr7:98950116-98950116;G/C missense_variant False TRRAP@p.I662M 1 0.15625 ENSG00000196367 chr7:98911250-98911250;C/G missense_variant False TRRAP@p.K3417E 1 0.791304348 ENSG00000196367 chr7:98994830-98994830;A/G missense_variant False TRRAP@p.L1158R 1 0.406779661 ENSG00000196367 chr7:98930712-98930712;T/G missense_variant False TRRAP@p.P1553A 1 0.360248447 ENSG00000196367 chr7:98948575-98948575;C/G missense_variant False TRRAP@p.P2184A 1 0.361111111 ENSG00000196367 chr7:98961342-98961342;C/G missense_variant False TRRAP@p.Q2570H 1 0.32038835 ENSG00000196367 chr7:98971837-98971837;G/C missense_variant False TRRAP@p.Q3022K 1 0.261904762 ENSG00000196367 chr7:98984122-98984122;C/A missense_variant False TRRAP@p.Q3642H 1 0.405405405 ENSG00000196367 chr7:99011081-99011081;G/C missense_variant False TRRAP@p.R2603Q 1 0.289855072 ENSG00000196367 chr7:98971935-98971935;G/A missense_variant False TRRAP@p.S722Y 1 0.2 ENSG00000196367 chr7:98912179-98912179;C/A missense_variant False TRRAP@p.T3069A 1 0.245714286 ENSG00000196367 chr7:98984263-98984263;A/G missense_variant False TRRAP@p.T53K 1 0.230769231 ENSG00000196367 chr7:98890342-98890342;C/A missense_variant False TRPV6@p.E708K 1 0.227848101 ENSG00000165125 chr7:142871883-142871883;C/T missense_variant False TRPV5@p.V72I 1 0.373333333 ENSG00000127412 chr7:142930361-142930361;C/T missense_variant False TRRAP@p.V1875M 1 0.19047619 ENSG00000196367 chr7:98953347-98953347;G/A missense_variant False TRPS1@p.S642L 1 0.283783784 ENSG00000104447 chr8:115604005-115604005;G/A missense_variant False TRPV1@p.F656L 1 0.368932039 ENSG00000196689 chr17:3573768-3573768;G/C missense_variant False TRPT1@p.E236Q 1 0.104895105 ENSG00000149743 chr11:64223932-64223932;C/G missense_variant False TRPS1@p.Y523C 1 0.112318841 ENSG00000104447 chr8:115604362-115604362;T/C missense_variant False TRPS1@p.V2I 1 0.141509434 ENSG00000104447 chr8:115620055-115620055;C/T missense_variant False TRPS1@p.T560A 1 0.145454545 ENSG00000104447 chr8:115604252-115604252;T/C missense_variant False TRPS1@p.S785T 1 0.233031674 ENSG00000104447 chr8:115587309-115587309;A/T missense_variant False TRPS1@p.S464L 1 0.4 ENSG00000104447 chr8:115604539-115604539;G/A missense_variant False TRPV5@p.R646H 1 0.210526316 ENSG00000127412 chr7:142908767-142908767;C/T missense_variant False TRPS1@p.S375L 1 0.514705882 ENSG00000104447 chr8:115604806-115604806;G/A missense_variant False TRPS1@p.S368F 1 0.150684932 ENSG00000104447 chr8:115604827-115604827;G/A missense_variant False TRPS1@p.S288C 1 0.103448276 ENSG00000104447 chr8:115619196-115619196;G/C missense_variant False TRPS1@p.R1264K 1 0.337620579 ENSG00000104447 chr8:115414078-115414078;C/T missense_variant False TRPS1@p.P759A 1 0.076335878 ENSG00000104447 chr8:115587387-115587387;G/C missense_variant False TRPS1@p.N918I 1 0.561576355 ENSG00000104447 chr8:115418361-115418361;T/A missense_variant False TRPV1@p.G88A 1 0.266666667 ENSG00000196689 chr17:3592088-3592088;C/G missense_variant False TRPV2@p.E493K 1 0.118644068 ENSG00000187688 chr17:16428872-16428872;G/A missense_variant False TRPV2@p.G22C 1 0.229508197 ENSG00000187688 chr17:16417732-16417732;G/T missense_variant False TRPV2@p.I466T 1 0.329113924 ENSG00000187688 chr17:16428363-16428363;T/C missense_variant False TRPV2@p.N231K 1 0.368421053 ENSG00000187688 chr17:16423536-16423536;C/A missense_variant False TRPV2@p.Q53E 1 0.352941176 ENSG00000187688 chr17:16417825-16417825;C/G missense_variant False TRPV3@p.D322N 1 0.458333333 ENSG00000167723 chr17:3532758-3532758;C/T missense_variant False TRPV4@p.D425G 1 0.519480519 ENSG00000111199 chr12:109796583-109796583;T/C missense_variant False TRPV4@p.H787N 1 0.5 ENSG00000111199 chr12:109784415-109784415;G/T missense_variant False TRPV4@p.R151Q 1 0.361702128 ENSG00000111199 chr12:109808403-109808403;C/T missense_variant False TRPV4@p.R249C 1 0.103448276 ENSG00000111199 chr12:109800726-109800726;G/A missense_variant False TRPV4@p.Y281C 1 0.680851064 ENSG00000111199 chr12:109800629-109800629;T/C missense_variant False TRPV5@p.D658N 1 0.081081081 ENSG00000127412 chr7:142908732-142908732;C/T missense_variant False TRPV5@p.E515Q 1 0.328125 ENSG00000127412 chr7:142912727-142912727;C/G missense_variant False TRPV5@p.F468L 1 0.095890411 ENSG00000127412 chr7:142914929-142914929;G/T missense_variant False TRPV5@p.G417V 1 0.192307692 ENSG00000127412 chr7:142915343-142915343;C/A missense_variant False TRPV5@p.I85V 1 0.407407407 ENSG00000127412 chr7:142930154-142930154;T/C missense_variant False TRRAP@p.T6I 1 0.083333333 ENSG00000196367 chr7:98881167-98881167;C/T missense_variant False TRRAP@p.W3234C 1 0.20212766 ENSG00000196367 chr7:98990553-98990553;G/T missense_variant False TSGA10IP@p.S70L 1 0.52173913 ENSG00000175513 chr11:65946941-65946941;C/T missense_variant False TSEN2@p.E207Q 1 0.260869565 ENSG00000154743 chr3:12503572-12503572;G/C missense_variant False TSEN2@p.S427C 1 0.12 ENSG00000154743 chr3:12531601-12531601;C/G missense_variant False TSEN2@p.S394C 1 0.316582915 ENSG00000154743 chr3:12529806-12529806;C/G missense_variant False TSEN2@p.R73K 1 0.23255814 ENSG00000154743 chr3:12492164-12492164;G/A missense_variant False TSEN2@p.L407F 1 0.4 ENSG00000154743 chr3:12529846-12529846;G/C missense_variant False TSEN2@p.I229N 1 0.203389831 ENSG00000154743 chr3:12503639-12503639;T/A missense_variant False TSEN2@p.E36K 1 0.111111111 ENSG00000154743 chr3:12489906-12489906;G/A missense_variant False TSC2@p.S970C 1 0.589928058 ENSG00000103197 chr16:2077669-2077669;C/G missense_variant False TSC22D3@p.I85M 1 0.333333333 ENSG00000157514 chrX:107775165-107775165;G/C missense_variant False TSC2@p.S872F 1 0.25 ENSG00000103197 chr16:2075868-2075868;C/T missense_variant False TSC2@p.S1487C 1 0.357142857 ENSG00000103197 chr16:2084682-2084682;C/G missense_variant False TSC2@p.R367W 1 0.841269841 ENSG00000103197 chr16:2060793-2060793;C/T missense_variant False TSC2@p.L830V 1 0.174603175 ENSG00000103197 chr16:2074332-2074332;C/G missense_variant False TSC2@p.E1565Q 1 0.140625 ENSG00000103197 chr16:2086223-2086223;G/C missense_variant False TSC2@p.A68T 1 0.129032258 ENSG00000103197 chr16:2050463-2050463;G/A missense_variant False TSEN2@p.S72L 1 0.333333333 ENSG00000154743 chr3:12492161-12492161;C/T missense_variant False TSEN34@p.E114K 1 0.476190476 ENSG00000170892 chr19:54191817-54191817;G/A missense_variant False TSEN54@p.D523N 1 0.31884058 ENSG00000182173 chr17:75524398-75524398;G/A missense_variant False TSEN54@p.Q428H 1 0.240506329 ENSG00000182173 chr17:75523306-75523306;G/C missense_variant False TSEN54@p.V167A 1 0.381679389 ENSG00000182173 chr17:75519026-75519026;T/C missense_variant False TSFM@p.E124D 1 0.206896552 ENSG00000123297 chr12:57787051-57787051;G/C missense_variant False TSFM@p.L270* 1 0.523809524 ENSG00000123297 chr12:57796349-57796350;CC/- frameshift_variant False TSFM@p.M218I 1 0.4 ENSG00000123297 chr12:57796196-57796196;G/A missense_variant False TSG101@p.M11I 1 0.615384615 ENSG00000074319 chr11:18526784-18526784;C/T missense_variant False TSG101@p.R258Q 1 0.056701031 ENSG00000074319 chr11:18483940-18483940;C/T missense_variant False TSGA10@p.E69D 1 0.371428571 ENSG00000135951 chr2:99108836-99108836;T/A missense_variant False TSGA10@p.I536T 1 0.146341463 ENSG00000135951 chr2:99035237-99035237;A/G missense_variant False TSGA10@p.Q593E 1 0.25 ENSG00000135951 chr2:99020320-99020320;G/C missense_variant False TSGA10IP@p.P552R 1 0.666666667 ENSG00000175513 chr11:65959924-65959924;C/G missense_variant False TSGA10IP@p.Q46E 1 0.481927711 ENSG00000175513 chr11:65945811-65945811;C/G missense_variant False TSGA10IP@p.Q68H 1 0.125 ENSG00000175513 chr11:65946936-65946936;G/C missense_variant False TSGA10IP@p.R425I 1 0.452830189 ENSG00000175513 chr11:65953689-65953689;G/T missense_variant False TSC22D4@p.E202V 1 0.458333333 ENSG00000166925 chr7:100477434-100477434;T/A missense_variant False TSC22D2@p.T126S 1 0.333333333 ENSG00000196428 chr3:150409727-150409727;C/G missense_variant False TRUB1@p.L155V 1 0.1 ENSG00000165832 chr10:114959747-114959747;C/G missense_variant False TSC1@p.D299N 1 0.545454545 ENSG00000165699 chr9:132912300-132912300;C/T missense_variant True TSC1@p.L45Wfs*17 1 0.58 ENSG00000165699 chr9:132927279-132927279;G/- frameshift_variant True TSC1@p.I621M 1 0.142857143 ENSG00000165699 chr9:132905715-132905715;G/C missense_variant True TSC1@p.I157Ffs*60 1 0.538461538 ENSG00000165699 chr9:132923386-132923387;AT/- frameshift_variant True TSC1@p.H279Pfs*20 1 0.37037037 ENSG00000165699 chr9:132912363-132912364;AC/- frameshift_variant True TSC1@p.E959K 1 0.409638554 ENSG00000165699 chr9:132897284-132897284;C/T missense_variant True TSC1@p.D504N 1 0.323529412 ENSG00000165699 chr9:132906068-132906068;C/T missense_variant True TSBP1@p.S473L 1 0.08490566 ENSG00000204296 chr6:32293240-32293240;G/A missense_variant False TSC22D2@p.S45F 1 0.24137931 ENSG00000196428 chr3:150409484-150409484;C/T missense_variant False TSBP1@p.K484N 1 0.194444444 ENSG00000204296 chr6:32293206-32293206;C/G missense_variant False TSBP1@p.K425N 1 0.150579151 ENSG00000204296 chr6:32293383-32293383;C/G missense_variant False TSBP1@p.E457Q 1 0.040625 ENSG00000204296 chr6:32293289-32293289;C/G missense_variant False TRUB2@p.D266N 1 0.285714286 ENSG00000167112 chr9:128309750-128309750;C/T missense_variant False TRUB1@p.S11L 1 0.5 ENSG00000165832 chr10:114938285-114938285;C/T missense_variant False TRUB1@p.R125Q 1 0.202702703 ENSG00000165832 chr10:114942732-114942732;G/A missense_variant False TSC1@p.P613L 1 0.27027027 ENSG00000165699 chr9:132905740-132905740;G/A missense_variant True TSC1@p.R190P 1 0.787234043 ENSG00000165699 chr9:132921913-132921913;C/G missense_variant True TSC1@p.R190Pfs*20 1 0.292134831 ENSG00000165699 chr9:132921913-132921913;C/- frameshift_variant True TSC1@p.R786Q 1 0.213541667 ENSG00000165699 chr9:132902639-132902639;C/T missense_variant True TSC1@p.S183_A186del 1 0.152777778 ENSG00000165699 chr9:132921925-132921936;GCGTACACACTG/- inframe_deletion True TSC1@p.Y185* 1 0.391304348 ENSG00000165699 chr9:132921927-132921927;G/- frameshift_variant True TSC1@p.Y192H 1 0.485714286 ENSG00000165699 chr9:132921908-132921908;A/G missense_variant True TSC22D1@p.E417Q 1 0.164705882 ENSG00000102804 chr13:44574826-44574826;C/G missense_variant False TSC22D1@p.G32V 1 0.642857143 ENSG00000102804 chr13:44575980-44575980;C/A missense_variant False TSC22D1@p.G941R 1 0.64 ENSG00000102804 chr13:44573254-44573254;C/T missense_variant False TSC22D1@p.P760S 1 0.3125 ENSG00000102804 chr13:44573797-44573797;G/A missense_variant False TSC22D1@p.Q104H 1 0.380952381 ENSG00000102804 chr13:44575763-44575763;T/G missense_variant False TSC22D1@p.S124G 1 0.658823529 ENSG00000102804 chr13:44575705-44575705;T/C missense_variant False TSC22D1@p.T849R 1 0.245614035 ENSG00000102804 chr13:44573529-44573529;G/C missense_variant False TSC22D2@p.A515T 1 0.063829787 ENSG00000196428 chr3:150410893-150410893;G/A missense_variant False TSC22D2@p.E727Q 1 0.316831683 ENSG00000196428 chr3:150458472-150458472;G/C missense_variant False TSC22D2@p.L736V 1 0.074324324 ENSG00000196428 chr3:150458499-150458499;C/G missense_variant False WASF2@p.P130S 1 0.214285714 ENSG00000158195 chr1:27418300-27418300;G/A missense_variant False WASF2@p.S351L 1 0.186666667 ENSG00000158195 chr1:27409979-27409979;G/A missense_variant False WASF2@p.T5M 1 0.186046512 ENSG00000158195 chr1:27428877-27428877;G/A missense_variant False ZNF484@p.R538W 1 0.232394366 ENSG00000127081 chr9:92847175-92847175;G/A missense_variant False ZNF486@p.E263K 1 0.23880597 ENSG00000256229 chr19:20197497-20197497;G/A missense_variant False ZNF486@p.E207Q 1 0.163265306 ENSG00000256229 chr19:20197329-20197329;G/C missense_variant False ZNF485@p.S143L 1 0.225352113 ENSG00000198298 chr10:43616471-43616471;C/T missense_variant False ZNF485@p.R436K 1 0.137931034 ENSG00000198298 chr10:43617350-43617350;G/A missense_variant False ZNF485@p.N245H 1 0.468085106 ENSG00000198298 chr10:43616776-43616776;A/C missense_variant False ZNF485@p.F335L 1 0.125 ENSG00000198298 chr10:43617048-43617048;C/G missense_variant False ZNF484@p.R345K 1 0.2 ENSG00000127081 chr9:92847753-92847753;C/T missense_variant False ZNF486@p.H232D 1 0.205882353 ENSG00000256229 chr19:20197404-20197404;C/G missense_variant False ZNF484@p.Q50E 1 0.302631579 ENSG00000127081 chr9:92855898-92855898;G/C missense_variant False ZNF484@p.L44F 1 0.113636364 ENSG00000127081 chr9:92856202-92856202;C/G missense_variant False ZNF484@p.E186K 1 0.316831683 ENSG00000127081 chr9:92848231-92848231;C/T missense_variant False ZNF483@p.R627T 1 0.3125 ENSG00000173258 chr9:111542815-111542815;G/C missense_variant False ZNF483@p.R284K 1 0.369318182 ENSG00000173258 chr9:111541786-111541786;G/A missense_variant False ZNF483@p.R109S 1 0.459459459 ENSG00000173258 chr9:111527722-111527722;G/C missense_variant False ZNF486@p.E298Q 1 0.333333333 ENSG00000256229 chr19:20197602-20197602;G/C missense_variant False ZNF486@p.L72V 1 0.151515152 ENSG00000256229 chr19:20186043-20186043;C/G missense_variant False ZNF470@p.E260K 1 0.093023256 ENSG00000197016 chr19:56577207-56577207;G/A missense_variant False ZNF490@p.S430C 1 0.045045045 ENSG00000188033 chr19:12580786-12580786;G/C missense_variant False ZNF492@p.C199F 1 0.4 ENSG00000229676 chr19:22664265-22664265;G/T missense_variant False ZNF491@p.S51F 1 0.058823529 ENSG00000177599 chr19:11806105-11806105;C/T missense_variant False ZNF491@p.R54S 1 0.316666667 ENSG00000177599 chr19:11806115-11806115;G/C missense_variant False ZNF491@p.H365Y 1 0.14 ENSG00000177599 chr19:11807046-11807046;C/T missense_variant False ZNF491@p.H271D 1 0.393939394 ENSG00000177599 chr19:11806764-11806764;C/G missense_variant False ZNF491@p.C133W 1 0.060606061 ENSG00000177599 chr19:11806352-11806352;T/G missense_variant False ZNF490@p.H328D 1 0.081632653 ENSG00000188033 chr19:12581093-12581093;G/C missense_variant False ZNF486@p.P181L 1 0.410714286 ENSG00000256229 chr19:20197252-20197252;C/T missense_variant False ZNF48@p.L609Pfs*61 1 0.104166667 ENSG00000180035 chr16:30399071-30399072;-/C frameshift_variant False ZNF488@p.R285C 1 0.217391304 ENSG00000265763 chr10:47367977-47367977;G/A missense_variant False ZNF488@p.K165I 1 0.164383562 ENSG00000265763 chr10:47368336-47368336;T/A missense_variant False ZNF488@p.E314K 1 0.293103448 ENSG00000265763 chr10:47367890-47367890;C/T missense_variant False ZNF486@p.S167L 1 0.34375 ENSG00000256229 chr19:20197210-20197210;C/T missense_variant False ZNF486@p.R234K 1 0.295774648 ENSG00000256229 chr19:20197411-20197411;G/A missense_variant False ZNF483@p.Q132H 1 0.363636364 ENSG00000173258 chr9:111527791-111527791;G/C missense_variant False ZNF483@p.H601R 1 0.278481013 ENSG00000173258 chr9:111542737-111542737;A/G missense_variant False ZNF483@p.G355A 1 0.93495935 ENSG00000173258 chr9:111541999-111541999;G/C missense_variant False ZNF471@p.K143N 1 0.472222222 ENSG00000196263 chr19:56524496-56524496;G/T missense_variant False ZNF471@p.S89F 1 0.147368421 ENSG00000196263 chr19:56524333-56524333;C/T missense_variant False ZNF471@p.R563I 1 0.125 ENSG00000196263 chr19:56525755-56525755;G/T missense_variant False ZNF471@p.R363H 1 0.308333333 ENSG00000196263 chr19:56525155-56525155;G/A missense_variant False ZNF471@p.Q470E 1 0.2 ENSG00000196263 chr19:56525475-56525475;C/G missense_variant False ZNF471@p.Q337E 1 0.143835616 ENSG00000196263 chr19:56525076-56525076;C/G missense_variant False ZNF471@p.M42I 1 0.174242424 ENSG00000196263 chr19:56516367-56516367;G/A missense_variant False ZNF471@p.H537D 1 0.084745763 ENSG00000196263 chr19:56525676-56525676;C/G missense_variant False ZNF483@p.E688D 1 0.442622951 ENSG00000173258 chr9:111542999-111542999;G/C missense_variant False ZNF471@p.F608L 1 0.564593301 ENSG00000196263 chr19:56525891-56525891;C/G missense_variant False ZNF471@p.E78K 1 0.304347826 ENSG00000196263 chr19:56518553-56518553;G/A missense_variant False ZNF471@p.D329N 1 0.18699187 ENSG00000196263 chr19:56525052-56525052;G/A missense_variant False ZNF470@p.R417K 1 0.506024096 ENSG00000197016 chr19:56577679-56577679;G/A missense_variant False ZNF470@p.Q295E 1 0.524193548 ENSG00000197016 chr19:56577312-56577312;C/G missense_variant False ZNF470@p.Q267H 1 0.182926829 ENSG00000197016 chr19:56577230-56577230;G/C missense_variant False ZNF473@p.Q579E 1 0.12 ENSG00000142528 chr19:50046178-50046178;C/G missense_variant False ZNF473@p.R852W 1 0.415584416 ENSG00000142528 chr19:50046997-50046997;C/T missense_variant False ZNF473@p.S253F 1 0.168711656 ENSG00000142528 chr19:50045201-50045201;C/T missense_variant False ZNF473@p.S388L 1 0.525252525 ENSG00000142528 chr19:50045606-50045606;C/T missense_variant False ZNF473@p.W228C 1 0.255639098 ENSG00000142528 chr19:50045127-50045127;G/C missense_variant False ZNF474@p.E250K 1 0.160714286 ENSG00000164185 chr5:122152738-122152738;G/A missense_variant False ZNF474@p.L208I 1 0.14 ENSG00000164185 chr5:122152612-122152612;C/A missense_variant False ZNF479@p.D96Tfs*15 1 0.141732283 ENSG00000185177 chr7:57121130-57121130;T/- frameshift_variant False ZNF479@p.E294D 1 0.29787234 ENSG00000185177 chr7:57120533-57120533;C/A missense_variant False ZNF479@p.E441K 1 0.134615385 ENSG00000185177 chr7:57120094-57120094;C/T missense_variant False ZNF479@p.K126R 1 0.076923077 ENSG00000185177 chr7:57121038-57121038;T/C missense_variant False ZNF479@p.N367K 1 0.235294118 ENSG00000185177 chr7:57120314-57120314;G/T missense_variant False ZNF479@p.R317K 1 0.391891892 ENSG00000185177 chr7:57120465-57120465;C/T missense_variant False ZNF479@p.R345I 1 0.333333333 ENSG00000185177 chr7:57120381-57120381;C/A missense_variant False ZNF479@p.S212F 1 0.282051282 ENSG00000185177 chr7:57120780-57120780;G/A missense_variant False ZNF479@p.S338L 1 0.175 ENSG00000185177 chr7:57120402-57120402;G/A missense_variant False ZNF483@p.C665Y 1 0.85 ENSG00000173258 chr9:111542929-111542929;G/A missense_variant False ZNF492@p.F150I 1 0.375 ENSG00000229676 chr19:22664117-22664117;T/A missense_variant False ZNF492@p.G445V 1 0.317073171 ENSG00000229676 chr19:22665003-22665003;G/T missense_variant False ZNF492@p.K194R 1 0.333333333 ENSG00000229676 chr19:22664250-22664250;A/G missense_variant False ZNF510@p.E208D 1 0.473684211 ENSG00000081386 chr9:96760206-96760206;C/G missense_variant False ZNF511@p.R184K 1 0.09375 ENSG00000198546 chr10:133310285-133310285;G/A missense_variant False ZNF511@p.G106E 1 0.266666667 ENSG00000198546 chr10:133309865-133309865;G/A missense_variant False ZNF510@p.T302I 1 0.431372549 ENSG00000081386 chr9:96759925-96759925;G/A missense_variant False ZNF510@p.T150A 1 0.550561798 ENSG00000081386 chr9:96760382-96760382;T/C missense_variant False ZNF510@p.R369K 1 0.571428571 ENSG00000081386 chr9:96759724-96759724;C/T missense_variant False ZNF510@p.E99K 1 0.107142857 ENSG00000081386 chr9:96763175-96763175;C/T missense_variant False ZNF507@p.S897F 1 0.343283582 ENSG00000168813 chr19:32382911-32382911;C/T missense_variant False ZNF507@p.E858K 1 0.162162162 ENSG00000168813 chr19:32382793-32382793;G/A missense_variant False ZNF507@p.S621R 1 0.067226891 ENSG00000168813 chr19:32354693-32354693;C/G missense_variant False ZNF507@p.R644H 1 0.415730337 ENSG00000168813 chr19:32354761-32354761;G/A missense_variant False ZNF507@p.R207I 1 0.263736264 ENSG00000168813 chr19:32353450-32353450;G/T missense_variant False ZNF507@p.Q842E 1 0.419117647 ENSG00000168813 chr19:32382745-32382745;C/G missense_variant False ZNF507@p.H804N 1 0.238589212 ENSG00000168813 chr19:32382516-32382516;C/A missense_variant False ZNF507@p.G393Rfs*4 1 0.293333333 ENSG00000168813 chr19:32354000-32354001;-/A frameshift_variant False ZNF511@p.R198L 1 0.131147541 ENSG00000198546 chr10:133311754-133311754;G/T missense_variant False ZNF511@p.R221S 1 0.182608696 ENSG00000198546 chr10:133311824-133311824;G/T missense_variant False ZNF511@p.V71M 1 0.428571429 ENSG00000198546 chr10:133309447-133309447;G/A missense_variant False ZNF512@p.E237K 1 0.236363636 ENSG00000243943 chr2:27602502-27602502;G/A missense_variant False ZNF513@p.E305K 1 0.2 ENSG00000163795 chr2:27378258-27378258;C/T missense_variant False ZNF513@p.E52Q 1 0.059602649 ENSG00000163795 chr2:27380150-27380150;C/G missense_variant False ZNF513@p.H382Qfs*3 1 0.224489796 ENSG00000163795 chr2:27378024-27378025;TG/- frameshift_variant False ZNF513@p.K358E 1 0.195402299 ENSG00000163795 chr2:27378099-27378099;T/C missense_variant False ZNF513@p.L38Sfs*9 1 0.206349206 ENSG00000163795 chr2:27380190-27380191;CA/- frameshift_variant False ZNF513@p.P126Rfs*40 1 0.352941176 ENSG00000163795 chr2:27378891-27378891;C/- frameshift_variant False ZNF513@p.R3Q 1 0.45 ENSG00000163795 chr2:27380519-27380519;C/T missense_variant False ZNF513@p.R523W 1 0.33 ENSG00000163795 chr2:27377604-27377604;G/A missense_variant False ZNF513@p.S507Y 1 0.316455696 ENSG00000163795 chr2:27377651-27377651;G/T missense_variant False ZNF513@p.S522F 1 0.090909091 ENSG00000163795 chr2:27377606-27377606;G/A missense_variant False ZNF514@p.E341D 1 0.131147541 ENSG00000144026 chr2:95149462-95149462;C/G missense_variant False ZNF514@p.G312V 1 0.233333333 ENSG00000144026 chr2:95149550-95149550;C/A missense_variant False ZNF514@p.T399N 1 0.083333333 ENSG00000144026 chr2:95149289-95149289;G/T missense_variant False ZNF507@p.E934K 1 0.148648649 ENSG00000168813 chr19:32383021-32383021;G/A missense_variant False ZNF507@p.E685V 1 0.2 ENSG00000168813 chr19:32354884-32354884;A/T missense_variant False ZNF492@p.K384N 1 0.071428571 ENSG00000229676 chr19:22664821-22664821;G/C missense_variant False ZNF493@p.H551Y 1 0.176470588 ENSG00000196268 chr19:21424694-21424694;C/T missense_variant False ZNF493@p.S626L 1 0.615384615 ENSG00000196268 chr19:21424920-21424920;C/T missense_variant False ZNF493@p.S458L 1 0.24137931 ENSG00000196268 chr19:21424416-21424416;C/T missense_variant False ZNF493@p.S145F 1 0.85 ENSG00000196268 chr19:21423477-21423477;C/T missense_variant False ZNF493@p.S145C 1 0.230215827 ENSG00000196268 chr19:21423477-21423477;C/G missense_variant False ZNF493@p.I204V 1 0.361702128 ENSG00000196268 chr19:21423653-21423653;A/G missense_variant False ZNF493@p.H639Y 1 0.619047619 ENSG00000196268 chr19:21424958-21424958;C/T missense_variant False ZNF493@p.H551D 1 0.159090909 ENSG00000196268 chr19:21424694-21424694;C/G missense_variant False ZNF507@p.D604N 1 0.115384615 ENSG00000168813 chr19:32354640-32354640;G/A missense_variant False ZNF493@p.H467Y 1 0.8 ENSG00000196268 chr19:21424442-21424442;C/T missense_variant False ZNF493@p.H355Y 1 0.171428571 ENSG00000196268 chr19:21424106-21424106;C/T missense_variant False ZNF493@p.H243Y 1 0.135416667 ENSG00000196268 chr19:21423770-21423770;C/T missense_variant False ZNF492@p.S237C 1 0.4 ENSG00000229676 chr19:22664379-22664379;C/G missense_variant False ZNF492@p.S185C 1 0.301886792 ENSG00000229676 chr19:22664223-22664223;C/G missense_variant False ZNF492@p.K384T 1 0.260273973 ENSG00000229676 chr19:22664820-22664820;A/C missense_variant False ZNF496@p.E308Q 1 0.20625 ENSG00000162714 chr1:247308559-247308559;C/G missense_variant False ZNF496@p.E349K 1 0.404761905 ENSG00000162714 chr1:247301238-247301238;C/T missense_variant False ZNF500@p.P46L 1 0.2 ENSG00000103199 chr16:4765842-4765842;G/A missense_variant False ZNF502@p.E124Q 1 0.5 ENSG00000196653 chr3:44721187-44721187;G/C missense_variant False ZNF502@p.E214Q 1 0.405940594 ENSG00000196653 chr3:44721457-44721457;G/C missense_variant False ZNF502@p.H457Y 1 0.368852459 ENSG00000196653 chr3:44722186-44722186;C/T missense_variant False ZNF502@p.H482Q 1 0.292682927 ENSG00000196653 chr3:44722263-44722263;T/G missense_variant False ZNF502@p.L110F 1 0.260273973 ENSG00000196653 chr3:44721147-44721147;G/C missense_variant False ZNF502@p.Q362E 1 0.081395349 ENSG00000196653 chr3:44721901-44721901;C/G missense_variant False ZNF502@p.R371L 1 0.3125 ENSG00000196653 chr3:44721929-44721929;G/T missense_variant False ZNF502@p.R405K 1 0.347826087 ENSG00000196653 chr3:44722031-44722031;G/A missense_variant False ZNF502@p.R536S 1 0.065934066 ENSG00000196653 chr3:44722425-44722425;A/T missense_variant False ZNF502@p.S196L 1 0.311688312 ENSG00000196653 chr3:44721404-44721404;C/T missense_variant False ZNF506@p.E226Q 1 0.093457944 ENSG00000081665 chr19:19795211-19795211;C/G missense_variant False ZNF506@p.E254D 1 0.357723577 ENSG00000081665 chr19:19795125-19795125;C/G missense_variant False ZNF506@p.E345K 1 0.117647059 ENSG00000081665 chr19:19794854-19794854;C/T missense_variant False ZNF507@p.A513T 1 0.151515152 ENSG00000168813 chr19:32354367-32354367;G/A missense_variant False ZNF470@p.L638V 1 0.06122449 ENSG00000197016 chr19:56578341-56578341;C/G missense_variant False ZNF470@p.D372H 1 0.448275862 ENSG00000197016 chr19:56577543-56577543;G/C missense_variant False WASF3@p.A269S 1 0.288702929 ENSG00000132970 chr13:26681142-26681142;G/T missense_variant False ZNF43@p.K165N 1 0.41025641 ENSG00000198521 chr19:21809542-21809542;C/A missense_variant False ZNF440@p.V11M 1 0.138888889 ENSG00000171295 chr19:11830310-11830310;G/A missense_variant False ZNF440@p.R269K 1 0.359375 ENSG00000171295 chr19:11831982-11831982;G/A missense_variant False ZNF440@p.G178A 1 0.281407035 ENSG00000171295 chr19:11831709-11831709;G/C missense_variant False ZNF440@p.E359K 1 0.263157895 ENSG00000171295 chr19:11832251-11832251;G/A missense_variant False ZNF440@p.E163K 1 0.20754717 ENSG00000171295 chr19:11831663-11831663;G/A missense_variant False ZNF43@p.S355L 1 0.338461538 ENSG00000198521 chr19:21808973-21808973;G/A missense_variant False ZNF43@p.H700L 1 0.375 ENSG00000198521 chr19:21807938-21807938;T/A missense_variant False ZNF441@p.E472K 1 0.223404255 ENSG00000197044 chr19:11781238-11781238;G/A missense_variant False ZNF43@p.E654K 1 0.175438596 ENSG00000198521 chr19:21808077-21808077;C/T missense_variant False ZNF43@p.E374Q 1 0.369747899 ENSG00000198521 chr19:21808917-21808917;C/G missense_variant False ZNF43@p.E123K 1 0.048 ENSG00000198521 chr19:21809670-21809670;C/T missense_variant False ZNF439@p.T319P 1 0.083333333 ENSG00000171291 chr19:11868024-11868024;A/C missense_variant False ZNF439@p.T29A 1 0.034090909 ENSG00000171291 chr19:11866241-11866241;A/G missense_variant False ZNF439@p.S394F 1 0.317073171 ENSG00000171291 chr19:11868250-11868250;C/T missense_variant False ZNF440@p.V573L 1 0.111111111 ENSG00000171295 chr19:11832893-11832893;G/C missense_variant False ZNF441@p.P102S 1 0.45 ENSG00000197044 chr19:11780128-11780128;C/T missense_variant False ZNF470@p.A550V 1 0.316326531 ENSG00000197016 chr19:56578078-56578078;C/T missense_variant False ZNF442@p.K294T 1 0.557471264 ENSG00000198342 chr19:12350704-12350704;T/G missense_variant False ZNF443@p.L97V 1 0.368421053 ENSG00000180855 chr19:12431883-12431883;G/C missense_variant False ZNF443@p.L181S 1 0.469387755 ENSG00000180855 chr19:12431630-12431630;A/G missense_variant False ZNF443@p.G417A 1 0.485074627 ENSG00000180855 chr19:12430922-12430922;C/G missense_variant False ZNF443@p.G373D 1 0.05 ENSG00000180855 chr19:12431054-12431054;C/T missense_variant False ZNF443@p.E390G 1 0.160714286 ENSG00000180855 chr19:12431003-12431003;T/C missense_variant False ZNF442@p.K51N 1 0.195488722 ENSG00000198342 chr19:12353040-12353040;C/G missense_variant False ZNF442@p.F472L 1 0.461538462 ENSG00000198342 chr19:12350169-12350169;G/T missense_variant False ZNF441@p.R352Q 1 0.428571429 ENSG00000197044 chr19:11780879-11780879;G/A missense_variant False ZNF442@p.D114G 1 0.239130435 ENSG00000198342 chr19:12351244-12351244;T/C missense_variant False ZNF441@p.Y671C 1 0.345454545 ENSG00000197044 chr19:11781836-11781836;A/G missense_variant False ZNF441@p.S517L 1 0.336842105 ENSG00000197044 chr19:11781374-11781374;C/T missense_variant False ZNF441@p.S458C 1 0.394366197 ENSG00000197044 chr19:11781197-11781197;C/G missense_variant False ZNF441@p.S319F 1 0.37037037 ENSG00000197044 chr19:11780780-11780780;C/T missense_variant False ZNF441@p.R541K 1 0.325581395 ENSG00000197044 chr19:11781446-11781446;G/A missense_variant False ZNF439@p.R311C 1 0.215909091 ENSG00000171291 chr19:11868000-11868000;C/T missense_variant False ZNF439@p.Q65H 1 0.101265823 ENSG00000171291 chr19:11866556-11866556;G/C missense_variant False ZNF439@p.L43I 1 0.409090909 ENSG00000171291 chr19:11866283-11866283;C/A missense_variant False ZNF432@p.E510Q 1 0.130434783 ENSG00000256087 chr19:52034151-52034151;C/G missense_variant False ZNF432@p.V530I 1 0.272189349 ENSG00000256087 chr19:52034091-52034091;C/T missense_variant False ZNF432@p.S100N 1 0.223529412 ENSG00000256087 chr19:52035380-52035380;C/T missense_variant False ZNF432@p.R477Q 1 0.423076923 ENSG00000256087 chr19:52034249-52034249;C/T missense_variant False ZNF432@p.R257T 1 0.346153846 ENSG00000256087 chr19:52034909-52034909;C/G missense_variant False ZNF432@p.N497S 1 0.12 ENSG00000256087 chr19:52034189-52034189;T/C missense_variant False ZNF432@p.H395D 1 0.147651007 ENSG00000256087 chr19:52034496-52034496;G/C missense_variant False ZNF432@p.D55A 1 0.323529412 ENSG00000256087 chr19:52040562-52040562;T/G missense_variant False ZNF439@p.F52L 1 0.533783784 ENSG00000171291 chr19:11866312-11866312;C/G missense_variant False ZNF431@p.S511C 1 0.126760563 ENSG00000196705 chr19:21183835-21183835;C/G missense_variant False ZNF431@p.K211R 1 0.48 ENSG00000196705 chr19:21182935-21182935;A/G missense_variant False ZNF431@p.H394Y 1 0.368421053 ENSG00000196705 chr19:21183483-21183483;C/T missense_variant False ZNF431@p.E140Q 1 0.26 ENSG00000196705 chr19:21182721-21182721;G/C missense_variant False ZNF430@p.Y110C 1 0.096385542 ENSG00000118620 chr19:21056637-21056637;A/G missense_variant False ZNF430@p.R225I 1 0.326530612 ENSG00000118620 chr19:21056982-21056982;G/T missense_variant False ZNF432@p.V590F 1 0.539823009 ENSG00000256087 chr19:52033911-52033911;C/A missense_variant False ZNF433@p.G553E 1 0.162650602 ENSG00000197647 chr19:12015209-12015209;C/T missense_variant False ZNF433@p.H552Y 1 0.13372093 ENSG00000197647 chr19:12015213-12015213;G/A missense_variant False ZNF433@p.R634Q 1 0.423076923 ENSG00000197647 chr19:12014966-12014966;C/T missense_variant False ZNF433@p.R656K 1 0.157894737 ENSG00000197647 chr19:12014900-12014900;C/T missense_variant False ZNF433@p.S598C 1 0.191082803 ENSG00000197647 chr19:12015074-12015074;G/C missense_variant False ZNF436@p.A460P 1 0.260416667 ENSG00000125945 chr1:23362004-23362004;C/G missense_variant False ZNF436@p.E391K 1 0.20212766 ENSG00000125945 chr1:23362211-23362211;C/T missense_variant False ZNF436@p.G302R 1 0.163398693 ENSG00000125945 chr1:23362478-23362478;C/G missense_variant False ZNF436@p.R186K 1 0.178947368 ENSG00000125945 chr1:23362825-23362825;C/T missense_variant False ZNF436@p.R457S 1 0.15 ENSG00000125945 chr1:23362011-23362011;C/G missense_variant False ZNF438@p.D327Y 1 0.059782609 ENSG00000183621 chr10:30849426-30849426;C/A missense_variant False ZNF438@p.D368H 1 0.458333333 ENSG00000183621 chr10:30849303-30849303;C/G missense_variant False ZNF438@p.E738K 1 0.058823529 ENSG00000183621 chr10:30845236-30845236;C/T missense_variant False ZNF438@p.E827K 1 0.08797654 ENSG00000183621 chr10:30844969-30844969;C/T missense_variant False ZNF438@p.E827Q 1 0.047169811 ENSG00000183621 chr10:30844969-30844969;C/G missense_variant False ZNF438@p.R204T 1 0.212121212 ENSG00000183621 chr10:30849794-30849794;C/G missense_variant False ZNF445@p.E893K 1 0.236220472 ENSG00000185219 chr3:44446994-44446994;C/T missense_variant False ZNF445@p.K595N 1 0.73255814 ENSG00000185219 chr3:44447886-44447886;T/A missense_variant False ZNF445@p.N47I 1 0.189473684 ENSG00000185219 chr3:44455410-44455410;T/A missense_variant False ZNF461@p.Q432H 1 0.182926829 ENSG00000197808 chr19:36639049-36639049;C/G missense_variant False ZNF462@p.E965Q 1 0.125 ENSG00000148143 chr9:106926805-106926805;G/C missense_variant False ZNF462@p.E65K 1 0.12195122 ENSG00000148143 chr9:106923576-106923576;G/A missense_variant False ZNF462@p.D2403N 1 0.512195122 ENSG00000148143 chr9:107009562-107009562;G/A missense_variant False ZNF462@p.D1341H 1 0.185714286 ENSG00000148143 chr9:106927933-106927933;G/C missense_variant False ZNF462@p.C472Y 1 0.526315789 ENSG00000148143 chr9:106925327-106925327;G/A missense_variant False ZNF461@p.R105T 1 0.209090909 ENSG00000197808 chr19:36640031-36640031;C/G missense_variant False ZNF461@p.M472I 1 0.105263158 ENSG00000197808 chr19:36638929-36638929;C/T missense_variant False ZNF460@p.E393Q 1 0.201117318 ENSG00000197714 chr19:57291718-57291718;G/C missense_variant False ZNF461@p.H533_R534del 1 0.216216216 ENSG00000197808 chr19:36638742-36638747;ATCTAT/- inframe_deletion False ZNF461@p.E71D 1 0.089285714 ENSG00000197808 chr19:36656467-36656467;C/G missense_variant False ZNF461@p.E130Q 1 0.305732484 ENSG00000197808 chr19:36639957-36639957;C/G missense_variant False ZNF460@p.T359I 1 0.1875 ENSG00000197714 chr19:57291617-57291617;C/T missense_variant False ZNF460@p.S301T 1 0.130952381 ENSG00000197714 chr19:57291443-57291443;G/C missense_variant False ZNF460@p.M138I 1 0.421568627 ENSG00000197714 chr19:57290955-57290955;G/A missense_variant False ZNF462@p.H488Y 1 0.195876289 ENSG00000148143 chr9:106925374-106925374;C/T missense_variant False ZNF462@p.K1766N 1 0.539325843 ENSG00000148143 chr9:106929210-106929210;G/T missense_variant False ZNF462@p.L842I 1 0.385365854 ENSG00000148143 chr9:106926436-106926436;C/A missense_variant False ZNF462@p.P445A 1 0.549180328 ENSG00000148143 chr9:106925245-106925245;C/G missense_variant False ZNF462@p.R2007L 1 0.223300971 ENSG00000148143 chr9:106932453-106932453;G/T missense_variant False ZNF462@p.S1271L 1 0.303797468 ENSG00000148143 chr9:106927724-106927724;C/T missense_variant False ZNF462@p.S2034C 1 0.095890411 ENSG00000148143 chr9:106932534-106932534;C/G missense_variant False ZNF462@p.T710S 1 0.336206897 ENSG00000148143 chr9:106926041-106926041;C/G missense_variant False ZNF467@p.C545R 1 0.233333333 ENSG00000181444 chr7:149764869-149764869;A/G missense_variant False ZNF467@p.E107Q 1 0.432989691 ENSG00000181444 chr7:149766183-149766183;C/G missense_variant False ZNF467@p.L287F 1 0.230769231 ENSG00000181444 chr7:149765641-149765641;C/G missense_variant False ZNF468@p.D138Y 1 0.451851852 ENSG00000204604 chr19:52841882-52841882;C/A missense_variant False ZNF468@p.D246N 1 0.1953125 ENSG00000204604 chr19:52841558-52841558;C/T missense_variant False ZNF468@p.D333N 1 0.165853659 ENSG00000204604 chr19:52841297-52841297;C/T missense_variant False ZNF468@p.E408K 1 0.212765957 ENSG00000204604 chr19:52841072-52841072;C/T missense_variant False ZNF468@p.H293Y 1 0.112 ENSG00000204604 chr19:52841417-52841417;G/A missense_variant False ZNF468@p.Q234H 1 0.481481481 ENSG00000204604 chr19:52841592-52841592;C/G missense_variant False ZNF460@p.E501K 1 0.114035088 ENSG00000197714 chr19:57292042-57292042;G/A missense_variant False ZNF460@p.D31N 1 0.154471545 ENSG00000197714 chr19:57284611-57284611;G/A missense_variant False ZNF445@p.Q13E 1 0.113207547 ENSG00000185219 chr3:44455513-44455513;G/C missense_variant False ZNF44@p.A58T 1 0.358744395 ENSG00000197857 chr19:12276058-12276058;C/T missense_variant False ZNF451@p.D709H 1 0.609756098 ENSG00000112200 chr6:57148210-57148210;G/C missense_variant False ZNF44@p.Y329C 1 0.279761905 ENSG00000197857 chr19:12273413-12273413;T/C missense_variant False ZNF44@p.R401Q 1 0.413533835 ENSG00000197857 chr19:12273197-12273197;C/T missense_variant False ZNF44@p.L409V 1 0.444444444 ENSG00000197857 chr19:12273174-12273174;G/C missense_variant False ZNF44@p.L369V 1 0.325 ENSG00000197857 chr19:12273294-12273294;G/C missense_variant False ZNF44@p.D312G 1 0.034090909 ENSG00000197857 chr19:12273464-12273464;T/C missense_variant False ZNF449@p.P247S 1 0.305084746 ENSG00000173275 chrX:135360258-135360258;C/T missense_variant False ZNF45@p.V293Ffs*3 1 0.15 ENSG00000124459 chr19:43914559-43914559;C/- frameshift_variant False ZNF449@p.G340E 1 0.288888889 ENSG00000173275 chrX:135360538-135360538;G/A missense_variant False ZNF446@p.P382A 1 0.16 ENSG00000083838 chr19:58480517-58480517;C/G missense_variant False ZNF446@p.G39S 1 0.194444444 ENSG00000083838 chr19:58477333-58477333;G/A missense_variant False ZNF445@p.V306A 1 0.397260274 ENSG00000185219 chr3:44449527-44449527;A/G missense_variant False ZNF445@p.S960R 1 0.206185567 ENSG00000185219 chr3:44446793-44446793;T/G missense_variant False ZNF445@p.S253F 1 0.309090909 ENSG00000185219 chr3:44450509-44450509;G/A missense_variant False ZNF451@p.H799Y 1 0.326530612 ENSG00000112200 chr6:57148480-57148480;C/T missense_variant False ZNF451@p.I610V 1 0.289473684 ENSG00000112200 chr6:57147913-57147913;A/G missense_variant False ZNF451@p.K316R 1 0.117647059 ENSG00000112200 chr6:57142038-57142038;A/G missense_variant False ZNF451@p.M885I 1 0.275 ENSG00000112200 chr6:57150765-57150765;G/A missense_variant False ZNF451@p.R40P 1 0.106060606 ENSG00000112200 chr6:57099074-57099074;G/C missense_variant False ZNF451@p.R653Dfs*11 1 0.15 ENSG00000112200 chr6:57148041-57148041;C/- frameshift_variant False ZNF451@p.R653P 1 0.404109589 ENSG00000112200 chr6:57148043-57148043;G/C missense_variant False ZNF451@p.R946C 1 0.174418605 ENSG00000112200 chr6:57152304-57152304;C/T missense_variant False ZNF451@p.S838L 1 0.363636364 ENSG00000112200 chr6:57148598-57148598;C/T missense_variant False ZNF454@p.C122Y 1 0.266666667 ENSG00000178187 chr5:178964769-178964769;G/A missense_variant False ZNF454@p.C311F 1 0.5 ENSG00000178187 chr5:178965336-178965336;G/T missense_variant False ZNF454@p.H514Q 1 0.227272727 ENSG00000178187 chr5:178965946-178965946;T/A missense_variant False ZNF45@p.D35E 1 0.098484848 ENSG00000124459 chr19:43919610-43919610;A/C missense_variant False ZNF45@p.E308Q 1 0.166666667 ENSG00000124459 chr19:43914514-43914514;C/G missense_variant False ZNF45@p.H155Y 1 0.04375 ENSG00000124459 chr19:43914973-43914973;G/A missense_variant False ZNF45@p.K311N 1 0.25 ENSG00000124459 chr19:43914503-43914503;C/G missense_variant False ZNF45@p.R399Q 1 0.377622378 ENSG00000124459 chr19:43914240-43914240;C/T missense_variant False ZNF516@p.A172T 1 0.52173913 ENSG00000101493 chr18:76442541-76442541;C/T missense_variant False ZNF516@p.A860P 1 0.135135135 ENSG00000101493 chr18:76379536-76379536;C/G missense_variant False ZNF516@p.L997V 1 0.120689655 ENSG00000101493 chr18:76379125-76379125;G/C missense_variant False ZNF560@p.R732Q 1 0.424242424 ENSG00000198028 chr19:9466752-9466752;C/T missense_variant False ZNF562@p.H338D 1 0.215909091 ENSG00000171466 chr19:9653218-9653218;G/C missense_variant False ZNF562@p.E89K 1 0.259887006 ENSG00000171466 chr19:9656630-9656630;C/T missense_variant False ZNF561@p.S79F 1 0.173913043 ENSG00000171469 chr19:9617050-9617050;G/A missense_variant False ZNF560@p.S473L 1 0.199170124 ENSG00000198028 chr19:9467529-9467529;G/A missense_variant False ZNF560@p.S259C 1 0.075 ENSG00000198028 chr19:9468171-9468171;G/C missense_variant False ZNF560@p.S12F 1 0.28358209 ENSG00000198028 chr19:9474321-9474321;G/A missense_variant False ZNF560@p.L447V 1 0.237037037 ENSG00000198028 chr19:9467608-9467608;G/C missense_variant False ZNF563@p.I37M 1 0.333333333 ENSG00000188868 chr19:12322604-12322604;G/C missense_variant False ZNF560@p.K657T 1 0.496183206 ENSG00000198028 chr19:9466977-9466977;T/G missense_variant False ZNF560@p.K579N 1 0.164383562 ENSG00000198028 chr19:9467210-9467210;T/A missense_variant False ZNF560@p.H510Q 1 0.25 ENSG00000198028 chr19:9467417-9467417;G/T missense_variant False ZNF559@p.R201K 1 0.077586207 ENSG00000188321 chr19:9342053-9342053;G/A missense_variant False ZNF559@p.M484I 1 0.485294118 ENSG00000188321 chr19:9342903-9342903;G/T missense_variant False ZNF559@p.G237A 1 0.155555556 ENSG00000188321 chr19:9342161-9342161;G/C missense_variant False ZNF562@p.S88L 1 0.218181818 ENSG00000171466 chr19:9656632-9656632;G/A missense_variant False ZNF563@p.N183I 1 0.257575758 ENSG00000188868 chr19:12319477-12319477;T/A missense_variant False ZNF516@p.R741L 1 0.224489796 ENSG00000101493 chr18:76379892-76379892;C/A missense_variant False ZNF565@p.F137L 1 0.289473684 ENSG00000196357 chr19:36183675-36183675;G/C missense_variant False ZNF566@p.Q300E 1 0.305084746 ENSG00000186017 chr19:36449336-36449336;G/C missense_variant False ZNF566@p.E84Q 1 0.091954023 ENSG00000186017 chr19:36449984-36449984;C/G missense_variant False ZNF565@p.V74M 1 0.123287671 ENSG00000196357 chr19:36195066-36195066;C/T missense_variant False ZNF565@p.S387R 1 0.149425287 ENSG00000196357 chr19:36182925-36182925;G/C missense_variant False ZNF565@p.S193F 1 0.476744186 ENSG00000196357 chr19:36183508-36183508;G/A missense_variant False ZNF565@p.G183R 1 0.194444444 ENSG00000196357 chr19:36183539-36183539;C/G missense_variant False ZNF565@p.E404K 1 0.311926606 ENSG00000196357 chr19:36182876-36182876;C/T missense_variant False ZNF563@p.P98T 1 0.487654321 ENSG00000188868 chr19:12319733-12319733;G/T missense_variant False ZNF565@p.E162K 1 0.489690722 ENSG00000196357 chr19:36183602-36183602;C/T missense_variant False ZNF564@p.S116L 1 0.181818182 ENSG00000249709 chr19:12527761-12527761;G/A missense_variant False ZNF564@p.P378T 1 0.37254902 ENSG00000249709 chr19:12526976-12526976;G/T missense_variant False ZNF564@p.K75T 1 0.153846154 ENSG00000249709 chr19:12527884-12527884;T/G missense_variant False ZNF564@p.E496A 1 0.493506494 ENSG00000249709 chr19:12526621-12526621;T/G missense_variant False ZNF563@p.R298T 1 0.071856287 ENSG00000188868 chr19:12319132-12319132;C/G missense_variant False ZNF559-ZNF177@p.Q68E 1 0.307692308 ENSG00000270011 chr19:9379568-9379568;C/G missense_variant False ZNF559-ZNF177@p.E233Q 1 0.354166667 ENSG00000270011 chr19:9381508-9381508;G/C missense_variant False ZNF558@p.S165C 1 0.352941176 ENSG00000167785 chr19:8811996-8811996;G/C missense_variant False ZNF551@p.G359E 1 0.178082192 ENSG00000204519 chr19:57687351-57687351;G/A missense_variant False ZNF554@p.S111N 1 0.49197861 ENSG00000172006 chr19:2832381-2832381;G/A missense_variant False ZNF552@p.V202A 1 0.206896552 ENSG00000178935 chr19:57808659-57808659;A/G missense_variant False ZNF552@p.Q35H 1 0.206521739 ENSG00000178935 chr19:57813349-57813349;C/G missense_variant False ZNF552@p.Q302E 1 0.277108434 ENSG00000178935 chr19:57808360-57808360;G/C missense_variant False ZNF551@p.R361K 1 0.075949367 ENSG00000204519 chr19:57687357-57687357;G/A missense_variant False ZNF551@p.H577Q 1 0.205882353 ENSG00000204519 chr19:57688006-57688006;C/A missense_variant False ZNF551@p.E121K 1 0.261904762 ENSG00000204519 chr19:57686636-57686636;G/A missense_variant False ZNF558@p.R302S 1 0.095588235 ENSG00000167785 chr19:8811584-8811584;C/A missense_variant False ZNF550@p.W216L 1 0.567251462 ENSG00000251369 chr19:57547597-57547597;C/A missense_variant False ZNF550@p.S115C 1 0.248603352 ENSG00000251369 chr19:57547900-57547900;G/C missense_variant False ZNF550@p.R220Q 1 0.376 ENSG00000251369 chr19:57547585-57547585;C/T missense_variant False ZNF550@p.E340K 1 0.224137931 ENSG00000251369 chr19:57547226-57547226;C/T missense_variant False ZNF549@p.S453L 1 0.316455696 ENSG00000121406 chr19:57538362-57538362;C/T missense_variant False ZNF549@p.R161K 1 0.3 ENSG00000121406 chr19:57537486-57537486;G/A missense_variant False ZNF555@p.F265L 1 0.133333333 ENSG00000186300 chr19:2852860-2852860;C/A missense_variant False ZNF555@p.G149R 1 0.164556962 ENSG00000186300 chr19:2852510-2852510;G/A missense_variant False ZNF555@p.P599S 1 0.148148148 ENSG00000186300 chr19:2853860-2853860;C/T missense_variant False ZNF555@p.T244A 1 0.25974026 ENSG00000186300 chr19:2852795-2852795;A/G missense_variant False ZNF555@p.Y508C 1 0.281818182 ENSG00000186300 chr19:2853588-2853588;A/G missense_variant False ZNF556@p.A267V 1 0.4 ENSG00000172000 chr19:2877758-2877758;C/T missense_variant False ZNF556@p.E220K 1 0.272727273 ENSG00000172000 chr19:2877616-2877616;G/A missense_variant False ZNF556@p.K138N 1 0.456896552 ENSG00000172000 chr19:2877372-2877372;G/T missense_variant False ZNF556@p.R214C 1 0.337209302 ENSG00000172000 chr19:2877598-2877598;C/T missense_variant False ZNF556@p.R26T 1 0.236641221 ENSG00000172000 chr19:2873569-2873569;G/C missense_variant False ZNF556@p.R366T 1 0.291666667 ENSG00000172000 chr19:2878055-2878055;G/C missense_variant False ZNF557@p.E19K 1 0.645833333 ENSG00000130544 chr19:7075699-7075699;G/A missense_variant False ZNF557@p.E310K 1 0.25 ENSG00000130544 chr19:7083400-7083400;G/A missense_variant False ZNF557@p.G291R 1 0.215384615 ENSG00000130544 chr19:7083343-7083343;G/C missense_variant False ZNF557@p.L248F 1 0.323943662 ENSG00000130544 chr19:7083216-7083216;G/C missense_variant False ZNF557@p.V218L 1 0.230769231 ENSG00000130544 chr19:7083124-7083124;G/C missense_variant False ZNF558@p.H202P 1 0.186813187 ENSG00000167785 chr19:8811885-8811885;T/G missense_variant False ZNF566@p.R32K 1 0.228571429 ENSG00000186017 chr19:36473373-36473373;C/T missense_variant False ZNF566@p.S116F 1 0.396907216 ENSG00000186017 chr19:36449887-36449887;G/A missense_variant False ZNF566@p.T179A 1 0.098039216 ENSG00000186017 chr19:36449699-36449699;T/C missense_variant False ZNF576@p.R164W 1 0.259259259 ENSG00000124444 chr19:43599235-43599235;C/T missense_variant False ZNF578@p.L579F 1 0.105263158 ENSG00000258405 chr19:52512118-52512118;G/C missense_variant False ZNF578@p.H334Y 1 0.276422764 ENSG00000258405 chr19:52511381-52511381;C/T missense_variant False ZNF578@p.E107K 1 0.276595745 ENSG00000258405 chr19:52510700-52510700;G/A missense_variant False ZNF577@p.I377K 1 0.209677419 ENSG00000161551 chr19:51872860-51872860;A/T missense_variant False ZNF577@p.G350A 1 0.145454545 ENSG00000161551 chr19:51872941-51872941;C/G missense_variant False ZNF577@p.F307L 1 0.282608696 ENSG00000161551 chr19:51873069-51873069;G/C missense_variant False ZNF575@p.R244T 1 0.2 ENSG00000176472 chr19:43535680-43535680;G/C missense_variant False ZNF572@p.S523C 1 0.153846154 ENSG00000180938 chr8:124977836-124977836;C/G missense_variant False ZNF574@p.S37Y 1 0.247191011 ENSG00000105732 chr19:42078716-42078716;C/A missense_variant False ZNF574@p.P426L 1 0.056410256 ENSG00000105732 chr19:42079883-42079883;C/T missense_variant False ZNF574@p.H509Y 1 0.297935103 ENSG00000105732 chr19:42080131-42080131;C/T missense_variant False ZNF574@p.E882Q 1 0.504854369 ENSG00000105732 chr19:42081250-42081250;G/C missense_variant False ZNF574@p.E454Q 1 0.476744186 ENSG00000105732 chr19:42079966-42079966;G/C missense_variant False ZNF574@p.D267H 1 0.151515152 ENSG00000105732 chr19:42079405-42079405;G/C missense_variant False ZNF578@p.S353C 1 0.130081301 ENSG00000258405 chr19:52511438-52511438;A/T missense_variant False ZNF578@p.S527L 1 0.241758242 ENSG00000258405 chr19:52511961-52511961;C/T missense_variant False ZNF57@p.E381K 1 0.158730159 ENSG00000171970 chr19:2917762-2917762;G/A missense_variant False ZNF57@p.E501D 1 0.424242424 ENSG00000171970 chr19:2918124-2918124;G/C missense_variant False ZNF57@p.H162Y 1 0.418181818 ENSG00000171970 chr19:2917105-2917105;C/T missense_variant False ZNF57@p.P251Hfs*21 1 0.142857143 ENSG00000171970 chr19:2917372-2917372;C/- frameshift_variant False ZNF57@p.S433L 1 0.252525253 ENSG00000171970 chr19:2917919-2917919;C/T missense_variant False ZNF580@p.P5L 1 0.555555556 ENSG00000213015 chr19:55642522-55642522;C/T missense_variant False ZNF580@p.S13F 1 0.133333333 ENSG00000213015 chr19:55642546-55642546;C/T missense_variant False ZNF581@p.E184Q 1 0.140350877 ENSG00000171425 chr19:55645121-55645121;G/C missense_variant False ZNF581@p.S100C 1 0.096153846 ENSG00000171425 chr19:55644870-55644870;C/G missense_variant False ZNF582@p.E196Q 1 0.37704918 ENSG00000018869 chr19:56384831-56384831;C/G missense_variant False ZNF582@p.G429R 1 0.079365079 ENSG00000018869 chr19:56384132-56384132;C/T missense_variant False ZNF582@p.N134S 1 0.212962963 ENSG00000018869 chr19:56385016-56385016;T/C missense_variant False ZNF582@p.P198S 1 0.063291139 ENSG00000018869 chr19:56384825-56384825;G/A missense_variant False ZNF582@p.Q162H 1 0.126213592 ENSG00000018869 chr19:56384931-56384931;C/A missense_variant False ZNF582@p.R359K 1 0.112107623 ENSG00000018869 chr19:56384341-56384341;C/T missense_variant False ZNF573@p.H296Y 1 0.569767442 ENSG00000189144 chr19:37739604-37739604;G/A missense_variant False ZNF572@p.S497C 1 0.134453782 ENSG00000180938 chr8:124977758-124977758;C/G missense_variant False ZNF567@p.A406S 1 0.230769231 ENSG00000189042 chr19:36719940-36719940;G/T missense_variant False ZNF568@p.E521K 1 0.078431373 ENSG00000291239 chr19:36950714-36950714;G/A missense_variant False ZNF569@p.E109K 1 0.173076923 ENSG00000196437 chr19:37414333-37414333;C/T missense_variant False ZNF568@p.S596C 1 0.210526316 ENSG00000291239 chr19:36950940-36950940;C/G missense_variant False ZNF568@p.R326Q 1 0.176470588 ENSG00000291239 chr19:36950130-36950130;G/A missense_variant False ZNF568@p.Q485H 1 0.047619048 ENSG00000291239 chr19:36950608-36950608;G/C missense_variant False ZNF568@p.N561S 1 0.359223301 ENSG00000291239 chr19:36950835-36950835;A/G missense_variant False ZNF568@p.M605T 1 0.265306122 ENSG00000291239 chr19:36950967-36950967;T/C missense_variant False ZNF567@p.R487T 1 0.247706422 ENSG00000189042 chr19:36720184-36720184;G/C missense_variant False ZNF572@p.S256N 1 0.344537815 ENSG00000180938 chr8:124977035-124977035;G/A missense_variant False ZNF567@p.R230T 1 0.12962963 ENSG00000189042 chr19:36719413-36719413;G/C missense_variant False ZNF567@p.R222K 1 0.710526316 ENSG00000189042 chr19:36719389-36719389;G/A missense_variant False ZNF567@p.Q272K 1 0.214285714 ENSG00000189042 chr19:36719538-36719538;C/A missense_variant False ZNF567@p.N236S 1 0.210526316 ENSG00000189042 chr19:36719431-36719431;A/G missense_variant False ZNF567@p.K252N 1 0.3 ENSG00000189042 chr19:36719480-36719480;A/C missense_variant False ZNF567@p.H471Y 1 0.144144144 ENSG00000189042 chr19:36720135-36720135;C/T missense_variant False ZNF569@p.E659Q 1 0.046296296 ENSG00000196437 chr19:37412683-37412683;C/G missense_variant False ZNF569@p.R434T 1 0.066666667 ENSG00000196437 chr19:37413357-37413357;C/G missense_variant False ZNF569@p.R76T 1 0.035564854 ENSG00000196437 chr19:37425879-37425879;C/G missense_variant False ZNF570@p.E160Q 1 0.094594595 ENSG00000171827 chr19:37484100-37484100;G/C missense_variant False ZNF570@p.E92Q 1 0.06097561 ENSG00000171827 chr19:37483896-37483896;G/C missense_variant False ZNF570@p.G410A 1 0.1 ENSG00000171827 chr19:37484851-37484851;G/C missense_variant False ZNF570@p.K209R 1 0.097421203 ENSG00000171827 chr19:37484248-37484248;A/G missense_variant False ZNF570@p.Q517H 1 0.303030303 ENSG00000171827 chr19:37485173-37485173;G/C missense_variant False ZNF571@p.G105R 1 0.235294118 ENSG00000180479 chr19:37566115-37566115;C/G missense_variant False ZNF571@p.H441D 1 0.06557377 ENSG00000180479 chr19:37565107-37565107;G/C missense_variant False ZNF571@p.S571L 1 0.525641026 ENSG00000180479 chr19:37564716-37564716;G/A missense_variant False ZNF572@p.A481G 1 0.155172414 ENSG00000180938 chr8:124977710-124977710;C/G missense_variant False ZNF572@p.E79D 1 0.357894737 ENSG00000180938 chr8:124976505-124976505;G/T missense_variant False ZNF572@p.L399V 1 0.129251701 ENSG00000180938 chr8:124977463-124977463;C/G missense_variant False ZNF572@p.R385T 1 0.358974359 ENSG00000180938 chr8:124977422-124977422;G/C missense_variant False ZNF572@p.S10L 1 0.126506024 ENSG00000180938 chr8:124975669-124975669;C/T missense_variant False ZNF572@p.S125L 1 0.103225806 ENSG00000180938 chr8:124976642-124976642;C/T missense_variant False ZNF549@p.H551Y 1 0.422535211 ENSG00000121406 chr19:57538655-57538655;C/T missense_variant False ZNF549@p.E321K 1 0.184210526 ENSG00000121406 chr19:57537965-57537965;G/A missense_variant False ZNF548@p.S139L 1 0.177419355 ENSG00000188785 chr19:57398703-57398703;C/T missense_variant False ZNF526@p.E201Q 1 0.164319249 ENSG00000167625 chr19:42225004-42225004;G/C missense_variant False ZNF527@p.Q35H 1 0.046153846 ENSG00000189164 chr19:37379191-37379191;G/C missense_variant False ZNF527@p.L569V 1 0.184210526 ENSG00000189164 chr19:37389754-37389754;C/G missense_variant False ZNF527@p.A8G 1 0.450381679 ENSG00000189164 chr19:37374221-37374221;C/G missense_variant False ZNF526@p.S165F 1 0.436363636 ENSG00000167625 chr19:42224897-42224897;C/T missense_variant False ZNF526@p.E85K 1 0.119402985 ENSG00000167625 chr19:42224656-42224656;G/A missense_variant False ZNF526@p.E39K 1 0.272727273 ENSG00000167625 chr19:42224518-42224518;G/A missense_variant False ZNF526@p.E105K 1 0.071856287 ENSG00000167625 chr19:42224716-42224716;G/A missense_variant False ZNF521@p.M242I 1 0.197530864 ENSG00000198795 chr18:25227192-25227192;C/T missense_variant False ZNF524@p.S100L 1 0.625 ENSG00000171443 chr19:55602411-55602411;C/T missense_variant False ZNF524@p.R32Q 1 0.148148148 ENSG00000171443 chr19:55602207-55602207;G/A missense_variant False ZNF521@p.V751L 1 0.310344828 ENSG00000198795 chr18:25225667-25225667;C/G missense_variant False ZNF521@p.V476I 1 0.133928571 ENSG00000198795 chr18:25226492-25226492;C/T missense_variant False ZNF521@p.R381L 1 0.19266055 ENSG00000198795 chr18:25226776-25226776;C/A missense_variant False ZNF521@p.N675* 1 0.166666667 ENSG00000198795 chr18:25225895-25225896;-/A frameshift_variant False ZNF527@p.R161T 1 0.2 ENSG00000189164 chr19:37388531-37388531;G/C missense_variant False ZNF527@p.R546K 1 0.166666667 ENSG00000189164 chr19:37389686-37389686;G/A missense_variant False ZNF528@p.D12N 1 0.139318885 ENSG00000167555 chr19:52405925-52405925;G/A missense_variant False ZNF528@p.H627Y 1 0.181818182 ENSG00000167555 chr19:52416731-52416731;C/T missense_variant False ZNF528@p.L25M 1 0.217821782 ENSG00000167555 chr19:52405964-52405964;C/A missense_variant False ZNF528@p.P240L 1 0.144736842 ENSG00000167555 chr19:52415571-52415571;C/T missense_variant False ZNF528@p.Q308E 1 0.183486239 ENSG00000167555 chr19:52415774-52415774;C/G missense_variant False ZNF529@p.C480F 1 0.514285714 ENSG00000186020 chr19:36547119-36547119;C/A missense_variant False ZNF529@p.D183N 1 0.470588235 ENSG00000186020 chr19:36548011-36548011;C/T missense_variant False ZNF529@p.D306N 1 0.191780822 ENSG00000186020 chr19:36547642-36547642;C/T missense_variant False ZNF529@p.E188K 1 0.357142857 ENSG00000186020 chr19:36547996-36547996;C/T missense_variant False ZNF529@p.L158V 1 0.414285714 ENSG00000186020 chr19:36548086-36548086;G/C missense_variant False ZNF529@p.S351L 1 0.274193548 ENSG00000186020 chr19:36547506-36547506;G/A missense_variant False ZNF530@p.D32N 1 0.608695652 ENSG00000183647 chr19:57604340-57604340;G/A missense_variant False ZNF530@p.G58A 1 0.109375 ENSG00000183647 chr19:57605698-57605698;G/C missense_variant False ZNF530@p.H281Y 1 0.205479452 ENSG00000183647 chr19:57606366-57606366;C/T missense_variant False ZNF530@p.Q250E 1 0.065217391 ENSG00000183647 chr19:57606273-57606273;C/G missense_variant False ZNF521@p.N572S 1 0.390625 ENSG00000198795 chr18:25226203-25226203;T/C missense_variant False ZNF521@p.L1004S 1 0.470588235 ENSG00000198795 chr18:25224907-25224907;A/G missense_variant False ZNF532@p.D688N 1 0.274193548 ENSG00000074657 chr18:58920349-58920349;G/A missense_variant False ZNF518A@p.L553F 1 0.283333333 ENSG00000177853 chr10:96157981-96157981;G/T missense_variant False ZNF518B@p.E461K 1 0.090909091 ENSG00000178163 chr4:10444948-10444948;C/T missense_variant False ZNF518B@p.E368K 1 0.264705882 ENSG00000178163 chr4:10445227-10445227;C/T missense_variant False ZNF518A@p.S691L 1 0.377777778 ENSG00000177853 chr10:96158394-96158394;C/T missense_variant False ZNF518A@p.R1297T 1 0.3 ENSG00000177853 chr10:96160212-96160212;G/C missense_variant False ZNF518A@p.Q361H 1 0.166666667 ENSG00000177853 chr10:96157405-96157405;G/C missense_variant False ZNF518A@p.Q1178H 1 0.173913043 ENSG00000177853 chr10:96159856-96159856;G/C missense_variant False ZNF518A@p.L1337F 1 0.238095238 ENSG00000177853 chr10:96160331-96160331;C/T missense_variant False ZNF521@p.K194N 1 0.530864198 ENSG00000198795 chr18:25227336-25227336;C/A missense_variant False ZNF518A@p.E630K 1 0.298245614 ENSG00000177853 chr10:96158210-96158210;G/A missense_variant False ZNF518A@p.E231K 1 0.27826087 ENSG00000177853 chr10:96157013-96157013;G/A missense_variant False ZNF518A@p.E1007Q 1 0.103448276 ENSG00000177853 chr10:96159341-96159341;G/C missense_variant False ZNF517@p.Q244H 1 0.368421053 ENSG00000197363 chr8:144807648-144807648;G/C missense_variant False ZNF516@p.S570N 1 0.289473684 ENSG00000101493 chr18:76441346-76441346;C/T missense_variant False ZNF516@p.S156R 1 0.444444444 ENSG00000101493 chr18:76442587-76442587;G/T missense_variant False ZNF518B@p.E542K 1 0.504347826 ENSG00000178163 chr4:10444705-10444705;C/T missense_variant False ZNF518B@p.E578Q 1 0.607843137 ENSG00000178163 chr4:10444597-10444597;C/G missense_variant False ZNF518B@p.G968D 1 0.440366972 ENSG00000178163 chr4:10443426-10443426;C/T missense_variant False ZNF518B@p.H580Y 1 0.388888889 ENSG00000178163 chr4:10444591-10444591;G/A missense_variant False ZNF518B@p.P95S 1 0.178082192 ENSG00000178163 chr4:10446046-10446046;G/A missense_variant False ZNF518B@p.Q253E 1 0.184782609 ENSG00000178163 chr4:10445572-10445572;G/C missense_variant False ZNF518B@p.T250S 1 0.057692308 ENSG00000178163 chr4:10445581-10445581;T/A missense_variant False ZNF519@p.E485D 1 0.285714286 ENSG00000175322 chr18:14105085-14105085;C/A missense_variant False ZNF519@p.K256N 1 0.576923077 ENSG00000175322 chr18:14105772-14105772;C/G missense_variant False ZNF521@p.A820V 1 0.442622951 ENSG00000198795 chr18:25225459-25225459;G/A missense_variant False ZNF521@p.C891Y 1 0.366071429 ENSG00000198795 chr18:25225246-25225246;C/T missense_variant False ZNF521@p.E1148K 1 0.846153846 ENSG00000198795 chr18:25224476-25224476;C/T missense_variant False ZNF521@p.E1148Q 1 0.571428571 ENSG00000198795 chr18:25224476-25224476;C/G missense_variant False ZNF521@p.E252K 1 0.321428571 ENSG00000198795 chr18:25227164-25227164;C/T missense_variant False ZNF521@p.E942K 1 0.338461538 ENSG00000198795 chr18:25225094-25225094;C/T missense_variant False ZNF521@p.G1106R 1 0.086956522 ENSG00000198795 chr18:25224602-25224602;C/G missense_variant False ZNF521@p.I822V 1 0.080168776 ENSG00000198795 chr18:25225454-25225454;T/C missense_variant False ZNF532@p.D5N 1 0.155844156 ENSG00000074657 chr18:58918300-58918300;G/A missense_variant False ZNF532@p.E216K 1 0.15 ENSG00000074657 chr18:58918933-58918933;G/A missense_variant False ZNF548@p.R452K 1 0.352941176 ENSG00000188785 chr19:57399642-57399642;G/A missense_variant False ZNF544@p.K387Nfs*93 1 0.213333333 ENSG00000198131 chr19:58261762-58261762;G/- frameshift_variant False ZNF546@p.H264Y 1 0.154639175 ENSG00000187187 chr19:40014060-40014060;C/T missense_variant False ZNF546@p.E470D 1 0.063291139 ENSG00000187187 chr19:40014680-40014680;A/T missense_variant False ZNF544@p.V508L 1 0.197916667 ENSG00000198131 chr19:58262128-58262128;G/C missense_variant False ZNF544@p.S339L 1 0.261363636 ENSG00000198131 chr19:58261622-58261622;C/T missense_variant False ZNF544@p.Q539E 1 0.526785714 ENSG00000198131 chr19:58262221-58262221;C/G missense_variant False ZNF544@p.P407S 1 0.430232558 ENSG00000198131 chr19:58261825-58261825;C/T missense_variant False ZNF544@p.G516Efs*76 1 0.25 ENSG00000198131 chr19:58262152-58262152;G/- frameshift_variant False ZNF543@p.G475A 1 0.189473684 ENSG00000178229 chr19:57328886-57328886;G/C missense_variant False ZNF544@p.G276V 1 0.132075472 ENSG00000198131 chr19:58261433-58261433;G/T missense_variant False ZNF544@p.G276R 1 0.137614679 ENSG00000198131 chr19:58261432-58261432;G/A missense_variant False ZNF544@p.E713K 1 0.122222222 ENSG00000198131 chr19:58262743-58262743;G/A missense_variant False ZNF544@p.E214D 1 0.298701299 ENSG00000198131 chr19:58261248-58261248;G/C missense_variant False ZNF544@p.E148Q 1 0.420289855 ENSG00000198131 chr19:58261048-58261048;G/C missense_variant False ZNF543@p.S578L 1 0.37 ENSG00000178229 chr19:57329195-57329195;C/T missense_variant False ZNF546@p.H379Y 1 0.118421053 ENSG00000187187 chr19:40014405-40014405;C/T missense_variant False ZNF546@p.K276* 1 0.258064516 ENSG00000187187 chr19:40014094-40014095;-/T frameshift_variant False ZNF546@p.M122I 1 0.483870968 ENSG00000187187 chr19:40008537-40008537;G/C missense_variant False ZNF546@p.Q404E 1 0.083333333 ENSG00000187187 chr19:40014480-40014480;C/G missense_variant False ZNF546@p.R685K 1 0.423076923 ENSG00000187187 chr19:40015324-40015324;G/A missense_variant False ZNF546@p.R797Nfs*5 1 0.230769231 ENSG00000187187 chr19:40015659-40015660;AG/- frameshift_variant False ZNF546@p.S98L 1 0.316455696 ENSG00000187187 chr19:40007395-40007395;C/T missense_variant False ZNF547@p.L100V 1 0.232323232 ENSG00000256060 chr19:57377274-57377274;C/G missense_variant False ZNF547@p.Q203E 1 0.4375 ENSG00000256060 chr19:57377583-57377583;C/G missense_variant False ZNF547@p.Q315H 1 0.119402985 ENSG00000256060 chr19:57377921-57377921;G/T missense_variant False ZNF547@p.R285S 1 0.166666667 ENSG00000256060 chr19:57377831-57377831;G/T missense_variant False ZNF548@p.C286R 1 0.333333333 ENSG00000188785 chr19:57399143-57399143;T/C missense_variant False ZNF548@p.D35N 1 0.283018868 ENSG00000188785 chr19:57397135-57397135;G/A missense_variant False ZNF548@p.E20D 1 0.364285714 ENSG00000188785 chr19:57397092-57397092;G/T missense_variant False ZNF548@p.E453Q 1 0.106870229 ENSG00000188785 chr19:57399644-57399644;G/C missense_variant False ZNF548@p.E502K 1 0.201834862 ENSG00000188785 chr19:57399791-57399791;G/A missense_variant False ZNF548@p.Q124L 1 0.202702703 ENSG00000188785 chr19:57398658-57398658;A/T missense_variant False ZNF543@p.P338S 1 0.247058824 ENSG00000178229 chr19:57328474-57328474;C/T missense_variant False ZNF543@p.E504K 1 0.216981132 ENSG00000178229 chr19:57328972-57328972;G/A missense_variant False ZNF532@p.K374N 1 0.384615385 ENSG00000074657 chr18:58919409-58919409;G/C missense_variant False ZNF534@p.G307A 1 0.135135135 ENSG00000198633 chr19:52438341-52438341;G/C missense_variant False ZNF536@p.F139L 1 0.278350515 ENSG00000198597 chr19:30443979-30443979;C/A missense_variant False ZNF536@p.E1252K 1 0.303797468 ENSG00000198597 chr19:30549373-30549373;G/A missense_variant False ZNF536@p.D1136H 1 0.126582278 ENSG00000198597 chr19:30549025-30549025;G/C missense_variant False ZNF536@p.D1110E 1 0.277777778 ENSG00000198597 chr19:30548949-30548949;C/A missense_variant False ZNF536@p.D1101N 1 0.346666667 ENSG00000198597 chr19:30548920-30548920;G/A missense_variant False ZNF534@p.L330V 1 0.192307692 ENSG00000198633 chr19:52438409-52438409;C/G missense_variant False ZNF534@p.F10L 1 0.084656085 ENSG00000198633 chr19:52433969-52433969;C/A missense_variant False ZNF543@p.E399Q 1 0.169230769 ENSG00000178229 chr19:57328657-57328657;G/C missense_variant False ZNF534@p.E39Q 1 0.12295082 ENSG00000198633 chr19:52434054-52434054;G/C missense_variant False ZNF532@p.P810T 1 0.397435897 ENSG00000074657 chr18:58934514-58934514;C/A missense_variant False ZNF532@p.P593L 1 0.282051282 ENSG00000074657 chr18:58920065-58920065;C/T missense_variant False ZNF532@p.P290R 1 0.171717172 ENSG00000074657 chr18:58919156-58919156;C/G missense_variant False ZNF532@p.N87Y 1 0.115384615 ENSG00000074657 chr18:58918546-58918546;A/T missense_variant False ZNF532@p.L857V 1 0.155172414 ENSG00000074657 chr18:58939485-58939485;C/G missense_variant False ZNF536@p.G901E 1 0.13229572 ENSG00000198597 chr19:30548321-30548321;G/A missense_variant False ZNF536@p.P15T 1 0.333333333 ENSG00000198597 chr19:30443605-30443605;C/A missense_variant False ZNF536@p.P409S 1 0.479452055 ENSG00000198597 chr19:30444787-30444787;C/T missense_variant False ZNF536@p.P959A 1 0.044117647 ENSG00000198597 chr19:30548494-30548494;C/G missense_variant False ZNF536@p.R638Q 1 0.376044568 ENSG00000198597 chr19:30445475-30445475;G/A missense_variant False ZNF536@p.R761L 1 0.208333333 ENSG00000198597 chr19:30534958-30534958;G/T missense_variant False ZNF536@p.R803W 1 0.161290323 ENSG00000198597 chr19:30548026-30548026;C/T missense_variant False ZNF536@p.S1076C 1 0.114285714 ENSG00000198597 chr19:30548846-30548846;C/G missense_variant False ZNF536@p.S115Y 1 0.077922078 ENSG00000198597 chr19:30443906-30443906;C/A missense_variant False ZNF540@p.H165Y 1 0.165354331 ENSG00000171817 chr19:37611773-37611773;C/T missense_variant False ZNF540@p.R595T 1 0.071428571 ENSG00000171817 chr19:37613064-37613064;G/C missense_variant False ZNF540@p.R599I 1 0.413793103 ENSG00000171817 chr19:37613076-37613076;G/T missense_variant False ZNF543@p.E129Q 1 0.276595745 ENSG00000178229 chr19:57327847-57327847;G/C missense_variant False ZNF543@p.E153K 1 0.218045113 ENSG00000178229 chr19:57327919-57327919;G/A missense_variant False ZNF543@p.E231K 1 0.21875 ENSG00000178229 chr19:57328153-57328153;G/A missense_variant False ZNF543@p.E252_Y255del 1 0.337837838 ENSG00000178229 chr19:57328215-57328226;GGAGAAGCCCTA/- inframe_deletion False ZNF543@p.E36Q 1 0.276595745 ENSG00000178229 chr19:57323769-57323769;G/C missense_variant False ZNF430@p.R198K 1 0.111111111 ENSG00000118620 chr19:21056901-21056901;G/A missense_variant False ZNF430@p.Q569R 1 0.392857143 ENSG00000118620 chr19:21058014-21058014;A/G missense_variant False ZNF430@p.L304I 1 0.381818182 ENSG00000118620 chr19:21057218-21057218;C/A missense_variant False ZNF283@p.H229Y 1 0.365384615 ENSG00000167637 chr19:43847286-43847286;C/T missense_variant False ZNF284@p.S160C 1 0.117647059 ENSG00000186026 chr19:44085957-44085957;C/G missense_variant False ZNF284@p.R113T 1 0.204545455 ENSG00000186026 chr19:44085816-44085816;G/C missense_variant False ZNF284@p.F184L 1 0.421052632 ENSG00000186026 chr19:44086030-44086030;C/A missense_variant False ZNF284@p.E425Q 1 0.216216216 ENSG00000186026 chr19:44086751-44086751;G/C missense_variant False ZNF283@p.H648D 1 0.292682927 ENSG00000167637 chr19:43848543-43848543;C/G missense_variant False ZNF283@p.H341Y 1 0.268656716 ENSG00000167637 chr19:43847622-43847622;C/T missense_variant False ZNF283@p.G499A 1 0.161290323 ENSG00000167637 chr19:43848097-43848097;G/C missense_variant False ZNF285@p.M215I 1 0.245901639 ENSG00000267508 chr19:44387600-44387600;C/T missense_variant False ZNF283@p.G493R 1 0.380165289 ENSG00000167637 chr19:43848078-43848078;G/A missense_variant False ZNF283@p.E351Q 1 0.112582781 ENSG00000167637 chr19:43847652-43847652;G/C missense_variant False ZNF283@p.E344K 1 0.445652174 ENSG00000167637 chr19:43847631-43847631;G/A missense_variant False ZNF282@p.P187L 1 0.138297872 ENSG00000170265 chr7:149198727-149198727;C/T missense_variant False ZNF282@p.N591K 1 0.232142857 ENSG00000170265 chr7:149224404-149224404;C/G missense_variant False ZNF282@p.G512C 1 0.230769231 ENSG00000170265 chr7:149224165-149224165;G/T missense_variant False ZNF285@p.H422D 1 0.285714286 ENSG00000267508 chr19:44386981-44386981;G/C missense_variant False ZNF285@p.S119F 1 0.087804878 ENSG00000267508 chr19:44387889-44387889;G/A missense_variant False ZNF322@p.E347Q 1 0.385093168 ENSG00000181315 chr6:26637515-26637515;C/G missense_variant False ZNF28@p.K334N 1 0.090909091 ENSG00000198538 chr19:52800843-52800843;T/G missense_variant False ZNF292@p.E2647K 1 0.222222222 ENSG00000188994 chr6:87261568-87261568;G/A missense_variant False ZNF292@p.E2171Q 1 0.104166667 ENSG00000188994 chr6:87260140-87260140;G/C missense_variant False ZNF292@p.E1888Q 1 0.545454545 ENSG00000188994 chr6:87259291-87259291;G/C missense_variant False ZNF292@p.D217H 1 0.144927536 ENSG00000188994 chr6:87233435-87233435;G/C missense_variant False ZNF28@p.T369S 1 0.081081081 ENSG00000198538 chr19:52800740-52800740;T/A missense_variant False ZNF28@p.M113I 1 0.109625668 ENSG00000198538 chr19:52801506-52801506;C/A missense_variant False ZNF28@p.H95Y 1 0.205263158 ENSG00000198538 chr19:52801562-52801562;G/A missense_variant False ZNF285@p.S259C 1 0.2 ENSG00000267508 chr19:44387469-44387469;G/C missense_variant False ZNF28@p.E91Q 1 0.220588235 ENSG00000198538 chr19:52801574-52801574;C/G missense_variant False ZNF287@p.Q743H 1 0.221153846 ENSG00000141040 chr17:16551913-16551913;C/G missense_variant False ZNF287@p.H83Y 1 0.106666667 ENSG00000141040 chr17:16567485-16567485;G/A missense_variant False ZNF287@p.E223K 1 0.698113208 ENSG00000141040 chr17:16563194-16563194;C/T missense_variant False ZNF287@p.D315N 1 0.287671233 ENSG00000141040 chr17:16553199-16553199;C/T missense_variant False ZNF286A@p.E163V 1 0.229166667 ENSG00000187607 chr17:15716212-15716212;A/T missense_variant False ZNF282@p.E634K 1 0.342105263 ENSG00000170265 chr7:149224531-149224531;G/A missense_variant False ZNF282@p.D135N 1 0.19047619 ENSG00000170265 chr7:149198570-149198570;G/A missense_variant False ZNF281@p.S853C 1 0.329113924 ENSG00000162702 chr1:200407148-200407148;G/C missense_variant False ZNF277@p.E424Q 1 0.25 ENSG00000198839 chr7:112342646-112342646;G/C missense_variant False ZNF280A@p.A245E 1 0.228310502 ENSG00000169548 chr22:22514897-22514897;G/T missense_variant False ZNF277@p.S4Y 1 0.368421053 ENSG00000198839 chr7:112206727-112206727;C/A missense_variant False ZNF277@p.R351W 1 0.479338843 ENSG00000198839 chr7:112340913-112340913;C/T missense_variant False ZNF277@p.M243I 1 0.322580645 ENSG00000198839 chr7:112330144-112330144;G/A missense_variant False ZNF277@p.I207N 1 0.222222222 ENSG00000198839 chr7:112327779-112327779;T/A missense_variant False ZNF277@p.E71K 1 0.212765957 ENSG00000198839 chr7:112286992-112286992;G/A missense_variant False ZNF276@p.S382F 1 0.338709677 ENSG00000158805 chr16:89729294-89729294;C/T missense_variant False ZNF281@p.S807C 1 0.044117647 ENSG00000162702 chr1:200407286-200407286;G/C missense_variant False ZNF276@p.R465W 1 0.4 ENSG00000158805 chr16:89733957-89733957;C/T missense_variant False ZNF276@p.P598L 1 0.611111111 ENSG00000158805 chr16:89738194-89738194;C/T missense_variant False ZNF276@p.P413Q 1 0.669172932 ENSG00000158805 chr16:89733370-89733370;C/A missense_variant False ZNF276@p.G163A 1 0.214285714 ENSG00000158805 chr16:89722813-89722813;G/C missense_variant False ZNF276@p.A448T 1 0.142857143 ENSG00000158805 chr16:89733543-89733543;G/A missense_variant False ZNF275@p.R249C 1 0.120879121 ENSG00000063587 chrX:153347430-153347430;C/T missense_variant False ZNF280A@p.E45Q 1 0.578947368 ENSG00000169548 chr22:22515498-22515498;C/G missense_variant False ZNF280A@p.P188L 1 0.092592593 ENSG00000169548 chr22:22515068-22515068;G/A missense_variant False ZNF280A@p.R158K 1 0.402061856 ENSG00000169548 chr22:22515158-22515158;C/T missense_variant False ZNF280A@p.R42T 1 0.504672897 ENSG00000169548 chr22:22515506-22515506;C/G missense_variant False ZNF280A@p.R447K 1 0.191256831 ENSG00000169548 chr22:22514291-22514291;C/T missense_variant False ZNF280A@p.V405A 1 0.436708861 ENSG00000169548 chr22:22514417-22514417;A/G missense_variant False ZNF280B@p.E400K 1 0.155629139 ENSG00000275004 chr22:22488201-22488201;C/T missense_variant False ZNF280B@p.S53L 1 0.046153846 ENSG00000275004 chr22:22489241-22489241;G/A missense_variant False ZNF280C@p.E393Q 1 0.215686275 ENSG00000056277 chrX:130227753-130227753;C/G missense_variant False ZNF280C@p.Q708E 1 0.151515152 ENSG00000056277 chrX:130205336-130205336;G/C missense_variant False ZNF280C@p.S177C 1 0.256756757 ENSG00000056277 chrX:130236603-130236603;G/C missense_variant False ZNF280D@p.E850Q 1 0.269230769 ENSG00000285253 chr15:56631890-56631890;C/G missense_variant False ZNF280D@p.E925K 1 0.151515152 ENSG00000285253 chr15:56631665-56631665;C/T missense_variant False ZNF281@p.F781L 1 0.104651163 ENSG00000162702 chr1:200407363-200407363;G/C missense_variant False ZNF281@p.G571D 1 0.214285714 ENSG00000162702 chr1:200407994-200407994;C/T missense_variant False ZNF281@p.P499L 1 0.23030303 ENSG00000162702 chr1:200408210-200408210;G/A missense_variant False ZNF281@p.Q808E 1 0.050632911 ENSG00000162702 chr1:200407284-200407284;G/C missense_variant False ZNF292@p.E2698Q 1 0.142857143 ENSG00000188994 chr6:87261721-87261721;G/C missense_variant False ZNF292@p.E384K 1 0.13253012 ENSG00000188994 chr6:87254779-87254779;G/A missense_variant False ZNF292@p.E896K 1 0.314285714 ENSG00000188994 chr6:87256315-87256315;G/A missense_variant False ZNF318@p.E2063K 1 0.161764706 ENSG00000171467 chr6:43337811-43337811;C/T missense_variant False ZNF318@p.G295E 1 0.189873418 ENSG00000171467 chr6:43357430-43357430;C/T missense_variant False ZNF318@p.E997Q 1 0.272151899 ENSG00000171467 chr6:43348407-43348407;C/G missense_variant False ZNF318@p.E440K 1 0.147727273 ENSG00000171467 chr6:43356016-43356016;C/T missense_variant False ZNF318@p.E433G 1 0.407894737 ENSG00000171467 chr6:43356036-43356036;T/C missense_variant False ZNF318@p.E398Q 1 0.175 ENSG00000171467 chr6:43356142-43356142;C/G missense_variant False ZNF318@p.E2086Q 1 0.133333333 ENSG00000171467 chr6:43337742-43337742;C/G missense_variant False ZNF318@p.A957V 1 0.481203008 ENSG00000171467 chr6:43348526-43348526;G/A missense_variant False ZNF311@p.D121H 1 0.13253012 ENSG00000197935 chr6:28998788-28998788;C/G missense_variant False ZNF317@p.W591* 1 0.304347826 ENSG00000130803 chr19:9161417-9161417;G/- frameshift_variant False ZNF317@p.L290_H296del 1 0.196721311 ENSG00000130803 chr19:9160512-9160532;CCTCTCGGCCCTGAAAATCCA/- inframe_deletion False ZNF317@p.H412D 1 0.08 ENSG00000130803 chr19:9160879-9160879;C/G missense_variant False ZNF317@p.G542R 1 0.358024691 ENSG00000130803 chr19:9161269-9161269;G/C missense_variant False ZNF317@p.D309Y 1 0.346774194 ENSG00000130803 chr19:9160570-9160570;G/T missense_variant False ZNF317@p.D309V 1 0.341269841 ENSG00000130803 chr19:9160571-9160571;A/T missense_variant False ZNF318@p.L1373V 1 0.163265306 ENSG00000171467 chr6:43339881-43339881;G/C missense_variant False ZNF318@p.L538V 1 0.312958435 ENSG00000171467 chr6:43355722-43355722;G/C missense_variant False ZNF318@p.P1733S 1 0.323943662 ENSG00000171467 chr6:43338801-43338801;G/A missense_variant False ZNF318@p.R1771K 1 0.252336449 ENSG00000171467 chr6:43338686-43338686;C/T missense_variant False ZNF318@p.S1296C 1 0.284974093 ENSG00000171467 chr6:43340111-43340111;G/C missense_variant False ZNF318@p.S1930C 1 0.176100629 ENSG00000171467 chr6:43338209-43338209;G/C missense_variant False ZNF318@p.S2075F 1 0.28125 ENSG00000171467 chr6:43337774-43337774;G/A missense_variant False ZNF318@p.S2216P 1 0.27027027 ENSG00000171467 chr6:43337352-43337352;A/G missense_variant False ZNF318@p.S430L 1 0.806451613 ENSG00000171467 chr6:43356045-43356045;G/A missense_variant False ZNF318@p.S879C 1 0.9375 ENSG00000171467 chr6:43354698-43354698;G/C missense_variant False ZNF319@p.E340K 1 0.472222222 ENSG00000166188 chr16:57997248-57997248;C/T missense_variant False ZNF319@p.G59S 1 0.337837838 ENSG00000166188 chr16:57998091-57998091;C/T missense_variant False ZNF319@p.K531N 1 0.210526316 ENSG00000166188 chr16:57996673-57996673;C/G missense_variant False ZNF320@p.D445H 1 0.146341463 ENSG00000182986 chr19:52880793-52880793;C/G missense_variant False ZNF320@p.E333K 1 0.232044199 ENSG00000182986 chr19:52881129-52881129;C/T missense_variant False ZNF320@p.F170L 1 0.070175439 ENSG00000182986 chr19:52881616-52881616;G/C missense_variant False ZNF320@p.K280N 1 0.230769231 ENSG00000182986 chr19:52881286-52881286;C/G missense_variant False ZNF311@p.D510H 1 0.135802469 ENSG00000197935 chr6:28995474-28995474;C/G missense_variant False ZNF30@p.R308K 1 0.168067227 ENSG00000168661 chr19:34943889-34943889;G/A missense_variant False ZNF292@p.G952E 1 0.134615385 ENSG00000188994 chr6:87256484-87256484;G/A missense_variant False ZNF292@p.Q718H 1 0.302325581 ENSG00000188994 chr6:87255783-87255783;G/C missense_variant False ZNF296@p.E152Q 1 0.25 ENSG00000170684 chr19:45072575-45072575;C/G missense_variant False ZNF292@p.T362A 1 0.24 ENSG00000188994 chr6:87254713-87254713;A/G missense_variant False ZNF292@p.T2678A 1 0.291666667 ENSG00000188994 chr6:87261661-87261661;A/G missense_variant False ZNF292@p.T1010Lfs*4 1 0.216216216 ENSG00000188994 chr6:87256655-87256655;A/- frameshift_variant False ZNF292@p.S2554L 1 0.416666667 ENSG00000188994 chr6:87261290-87261290;C/T missense_variant False ZNF292@p.S1671L 1 0.157894737 ENSG00000188994 chr6:87258641-87258641;C/T missense_variant False ZNF292@p.Q561H 1 0.392857143 ENSG00000188994 chr6:87255312-87255312;G/C missense_variant False ZNF30@p.E345Q 1 0.438461538 ENSG00000168661 chr19:34943999-34943999;G/C missense_variant False ZNF292@p.N2665T 1 0.578947368 ENSG00000188994 chr6:87261623-87261623;A/C missense_variant False ZNF292@p.M2330Nfs*11 1 0.211538462 ENSG00000188994 chr6:87260612-87260613;-/A frameshift_variant False ZNF292@p.L1065V 1 0.210526316 ENSG00000188994 chr6:87256822-87256822;C/G missense_variant False ZNF292@p.K1131Tfs*4 1 0.870967742 ENSG00000188994 chr6:87257021-87257028;AAATGCAG/- frameshift_variant False ZNF292@p.I2668F 1 0.307692308 ENSG00000188994 chr6:87261631-87261631;A/T missense_variant False ZNF292@p.H2197D 1 0.286885246 ENSG00000188994 chr6:87260218-87260218;C/G missense_variant False ZNF296@p.E24K 1 0.262295082 ENSG00000170684 chr19:45076304-45076304;C/T missense_variant False ZNF296@p.E474K 1 0.321678322 ENSG00000170684 chr19:45071609-45071609;C/T missense_variant False ZNF296@p.S407L 1 0.367346939 ENSG00000170684 chr19:45071809-45071809;G/A missense_variant False ZNF300@p.G161E 1 0.111111111 ENSG00000145908 chr5:150896757-150896757;C/T missense_variant False ZNF300@p.H599Y 1 0.13559322 ENSG00000145908 chr5:150895444-150895444;G/A missense_variant False ZNF300@p.L102S 1 0.207317073 ENSG00000145908 chr5:150896934-150896934;A/G missense_variant False ZNF300@p.S562L 1 0.705882353 ENSG00000145908 chr5:150895554-150895554;G/A missense_variant False ZNF302@p.E305A 1 0.243362832 ENSG00000089335 chr19:34684714-34684714;A/C missense_variant False ZNF302@p.L268V 1 0.126506024 ENSG00000089335 chr19:34684602-34684602;C/G missense_variant False ZNF302@p.L379V 1 0.208955224 ENSG00000089335 chr19:34684935-34684935;C/G missense_variant False ZNF302@p.T212P 1 0.43902439 ENSG00000089335 chr19:34684434-34684434;A/C missense_variant False ZNF304@p.G275E 1 0.056451613 ENSG00000131845 chr19:57356693-57356693;G/A missense_variant False ZNF304@p.M243I 1 0.107692308 ENSG00000131845 chr19:57356598-57356598;G/A missense_variant False ZNF304@p.S180C 1 0.355263158 ENSG00000131845 chr19:57356408-57356408;C/G missense_variant False ZNF304@p.T610S 1 0.328947368 ENSG00000131845 chr19:57357698-57357698;C/G missense_variant False ZNF304@p.V21M 1 0.066666667 ENSG00000131845 chr19:57353752-57353752;G/A missense_variant False ZNF30@p.D132H 1 0.413043478 ENSG00000168661 chr19:34943360-34943360;G/C missense_variant False ZNF275@p.A238T 1 0.901960784 ENSG00000063587 chrX:153347397-153347397;G/A missense_variant False ZNF274@p.R575H 1 0.41 ENSG00000171606 chr19:58212905-58212905;G/A missense_variant False ZNF274@p.E345Q 1 0.26984127 ENSG00000171606 chr19:58212214-58212214;G/C missense_variant False ZNF236@p.D654G 1 0.360655738 ENSG00000130856 chr18:76904452-76904452;A/G missense_variant False ZNF236@p.I501M 1 0.425925926 ENSG00000130856 chr18:76895104-76895104;C/G missense_variant False ZNF236@p.I462M 1 0.567567568 ENSG00000130856 chr18:76881487-76881487;A/G missense_variant False ZNF236@p.I41V 1 0.424242424 ENSG00000130856 chr18:76849597-76849597;A/G missense_variant False ZNF236@p.F79L 1 0.272727273 ENSG00000130856 chr18:76851819-76851819;C/G missense_variant False ZNF236@p.E475K 1 0.362903226 ENSG00000130856 chr18:76895024-76895024;G/A missense_variant False ZNF236@p.E371Q 1 0.225352113 ENSG00000130856 chr18:76880245-76880245;G/C missense_variant False ZNF235@p.Q132E 1 0.094170404 ENSG00000159917 chr19:44289041-44289041;G/C missense_variant False ZNF233@p.E533Q 1 0.130952381 ENSG00000159915 chr19:44274257-44274257;G/C missense_variant False ZNF235@p.H236D 1 0.074074074 ENSG00000159917 chr19:44288729-44288729;G/C missense_variant False ZNF235@p.G371A 1 0.552631579 ENSG00000159917 chr19:44288323-44288323;C/G missense_variant False ZNF234@p.R644Q 1 0.504761905 ENSG00000263002 chr19:44157947-44157947;G/A missense_variant False ZNF234@p.Q615H 1 0.421768707 ENSG00000263002 chr19:44157861-44157861;G/C missense_variant False ZNF234@p.P231L 1 0.201923077 ENSG00000263002 chr19:44156708-44156708;C/T missense_variant False ZNF234@p.F288L 1 0.447368421 ENSG00000263002 chr19:44156880-44156880;C/G missense_variant False ZNF236@p.I734M 1 0.425531915 ENSG00000130856 chr18:76905326-76905326;C/G missense_variant False ZNF236@p.P1254L 1 0.104166667 ENSG00000130856 chr18:76925294-76925294;C/T missense_variant False ZNF236@p.R192K 1 0.462765957 ENSG00000130856 chr18:76871739-76871739;G/A missense_variant False ZNF236@p.R655G 1 0.461538462 ENSG00000130856 chr18:76904454-76904454;A/G missense_variant False ZNF236@p.R655K 1 0.475 ENSG00000130856 chr18:76904455-76904455;G/A missense_variant False ZNF236@p.S1105L 1 0.036082474 ENSG00000130856 chr18:76919821-76919821;C/T missense_variant False ZNF236@p.S1545F 1 0.610169492 ENSG00000130856 chr18:76937201-76937201;C/T missense_variant False ZNF236@p.S1606L 1 0.436619718 ENSG00000130856 chr18:76947561-76947561;C/T missense_variant False ZNF236@p.S548C 1 0.342465753 ENSG00000130856 chr18:76895244-76895244;C/G missense_variant False ZNF236@p.S928C 1 0.403508772 ENSG00000130856 chr18:76910795-76910795;C/G missense_variant False ZNF236@p.V699L 1 0.375 ENSG00000130856 chr18:76905219-76905219;G/T missense_variant False ZNF239@p.H225Y 1 0.108527132 ENSG00000196793 chr10:43557407-43557407;G/A missense_variant False ZNF23@p.E557Q 1 0.234042553 ENSG00000167377 chr16:71448356-71448356;C/G missense_variant False ZNF23@p.H442Y 1 0.195121951 ENSG00000167377 chr16:71448701-71448701;G/A missense_variant False ZNF23@p.N53I 1 0.294117647 ENSG00000167377 chr16:71449867-71449867;T/A missense_variant False ZNF23@p.P223S 1 0.576470588 ENSG00000167377 chr16:71449358-71449358;G/A missense_variant False ZNF23@p.R412I 1 0.644444444 ENSG00000167377 chr16:71448790-71448790;C/A missense_variant False ZNF233@p.Q192K 1 0.129032258 ENSG00000159915 chr19:44273234-44273234;C/A missense_variant False ZNF233@p.D386N 1 0.186440678 ENSG00000159915 chr19:44273816-44273816;G/A missense_variant False ZNF24@p.E205K 1 0.06122449 ENSG00000172466 chr18:35337726-35337726;C/T missense_variant False ZNF229@p.F97L 1 0.068965517 ENSG00000278318 chr19:44430490-44430490;G/C missense_variant False ZNF229@p.Q91E 1 0.236842105 ENSG00000278318 chr19:44430510-44430510;G/C missense_variant False ZNF229@p.N391K 1 0.215116279 ENSG00000278318 chr19:44429608-44429608;G/T missense_variant False ZNF229@p.L516V 1 0.077922078 ENSG00000278318 chr19:44429235-44429235;G/C missense_variant False ZNF229@p.H618Q 1 0.096551724 ENSG00000278318 chr19:44428927-44428927;A/C missense_variant False ZNF229@p.G792R 1 0.162162162 ENSG00000278318 chr19:44428407-44428407;C/T missense_variant False ZNF229@p.G541R 1 0.622406639 ENSG00000278318 chr19:44429160-44429160;C/T missense_variant False ZNF229@p.F805L 1 0.302325581 ENSG00000278318 chr19:44428366-44428366;G/T missense_variant False ZNF232@p.S72Y 1 0.3 ENSG00000167840 chr17:5109677-5109677;G/T missense_variant False ZNF229@p.F581L 1 0.123595506 ENSG00000278318 chr19:44429038-44429038;G/C missense_variant False ZNF227@p.R396C 1 0.3125 ENSG00000131115 chr19:44235616-44235616;C/T missense_variant False ZNF227@p.L647F 1 0.074074074 ENSG00000131115 chr19:44236369-44236369;C/T missense_variant False ZNF227@p.H738N 1 0.087628866 ENSG00000131115 chr19:44236642-44236642;C/A missense_variant False ZNF227@p.G293E 1 0.28125 ENSG00000131115 chr19:44235308-44235308;G/A missense_variant False ZNF227@p.A468V 1 0.344594595 ENSG00000131115 chr19:44235833-44235833;C/T missense_variant False ZNF229@p.R397K 1 0.365591398 ENSG00000278318 chr19:44429591-44429591;C/T missense_variant False ZNF229@p.S641L 1 0.14556962 ENSG00000278318 chr19:44428859-44428859;G/A missense_variant False ZNF229@p.T595M 1 0.54 ENSG00000278318 chr19:44428997-44428997;G/A missense_variant False ZNF229@p.V604M 1 0.242424242 ENSG00000278318 chr19:44428971-44428971;C/T missense_variant False ZNF230@p.D156H 1 0.393665158 ENSG00000159882 chr19:44010505-44010505;G/C missense_variant False ZNF230@p.E340Q 1 0.067873303 ENSG00000159882 chr19:44011057-44011057;G/C missense_variant False ZNF230@p.I154M 1 0.183783784 ENSG00000159882 chr19:44010501-44010501;C/G missense_variant False ZNF230@p.I238L 1 0.046875 ENSG00000159882 chr19:44010751-44010751;A/C missense_variant False ZNF230@p.I95M 1 0.168831169 ENSG00000159882 chr19:44010324-44010324;C/G missense_variant False ZNF230@p.Q187H 1 0.297297297 ENSG00000159882 chr19:44010600-44010600;G/C missense_variant False ZNF232@p.E274K 1 0.548780488 ENSG00000167840 chr17:5106339-5106339;C/T missense_variant False ZNF232@p.E363Q 1 0.4375 ENSG00000167840 chr17:5106072-5106072;C/G missense_variant False ZNF232@p.E412Q 1 0.568627451 ENSG00000167840 chr17:5105925-5105925;C/G missense_variant False ZNF232@p.E419Q 1 0.638888889 ENSG00000167840 chr17:5105904-5105904;C/G missense_variant False ZNF232@p.M49I 1 0.288888889 ENSG00000167840 chr17:5109745-5109745;C/T missense_variant False ZNF232@p.Q203E 1 0.439490446 ENSG00000167840 chr17:5108944-5108944;G/C missense_variant False ZNF232@p.S20F 1 0.173913043 ENSG00000167840 chr17:5109833-5109833;G/A missense_variant False ZNF248@p.E409D 1 0.286821705 ENSG00000198105 chr10:37832128-37832128;T/A missense_variant False ZNF250@p.E123K 1 0.064814815 ENSG00000196150 chr8:144882831-144882831;C/T missense_variant False ZNF274@p.E227K 1 0.181818182 ENSG00000171606 chr19:58207142-58207142;G/A missense_variant False ZNF263@p.S528F 1 0.222222222 ENSG00000290183 chr16:3290089-3290089;C/T missense_variant False ZNF266@p.R536Q 1 0.445945946 ENSG00000174652 chr19:9413318-9413318;C/T missense_variant False ZNF264@p.L595F 1 0.181818182 ENSG00000083844 chr19:57212882-57212882;G/C missense_variant False ZNF264@p.E61Q 1 0.523809524 ENSG00000083844 chr19:57205417-57205417;G/C missense_variant False ZNF264@p.E235Q 1 0.105263158 ENSG00000083844 chr19:57211800-57211800;G/C missense_variant False ZNF264@p.C84Y 1 0.222222222 ENSG00000083844 chr19:57205487-57205487;G/A missense_variant False ZNF263@p.S7F 1 0.243243243 ENSG00000290183 chr16:3283838-3283838;C/T missense_variant False ZNF263@p.S388C 1 0.818181818 ENSG00000290183 chr16:3289669-3289669;C/G missense_variant False ZNF25@p.Q109H 1 0.169014085 ENSG00000175395 chr10:37953171-37953171;C/G missense_variant False ZNF263@p.L147V 1 0.204545455 ENSG00000290183 chr16:3285110-3285110;C/G missense_variant False ZNF263@p.H259D 1 0.257142857 ENSG00000290183 chr16:3288459-3288459;C/G missense_variant False ZNF263@p.C495F 1 0.470588235 ENSG00000290183 chr16:3289990-3289990;G/T missense_variant False ZNF260@p.H55N 1 0.077922078 ENSG00000254004 chr19:36515076-36515076;G/T missense_variant False ZNF260@p.E114K 1 0.160493827 ENSG00000254004 chr19:36514899-36514899;C/T missense_variant False ZNF260@p.A91Pfs*233 1 0.651162791 ENSG00000254004 chr19:36514969-36514969;T/- frameshift_variant False ZNF266@p.S208L 1 0.540983607 ENSG00000174652 chr19:9414302-9414302;G/A missense_variant False ZNF266@p.S22F 1 0.326388889 ENSG00000174652 chr19:9417878-9417878;G/A missense_variant False ZNF267@p.I480F 1 0.157142857 ENSG00000185947 chr16:31915687-31915687;A/T missense_variant False ZNF267@p.Q341E 1 0.204819277 ENSG00000185947 chr16:31915270-31915270;C/G missense_variant False ZNF267@p.R568Q 1 0.93220339 ENSG00000185947 chr16:31915952-31915952;G/A missense_variant False ZNF267@p.Y576H 1 0.261538462 ENSG00000185947 chr16:31915975-31915975;T/C missense_variant False ZNF26@p.E100Q 1 0.456521739 ENSG00000198393 chr12:133010177-133010177;G/C missense_variant False ZNF26@p.E171Q 1 0.216666667 ENSG00000198393 chr12:133010390-133010390;G/C missense_variant False ZNF26@p.F16L 1 0.11627907 ENSG00000198393 chr12:133007056-133007056;C/G missense_variant False ZNF26@p.I471V 1 0.164383562 ENSG00000198393 chr12:133011290-133011290;A/G missense_variant False ZNF26@p.Q371E 1 0.080645161 ENSG00000198393 chr12:133010990-133010990;C/G missense_variant False ZNF26@p.R526C 1 0.256410256 ENSG00000198393 chr12:133011455-133011455;C/T missense_variant False ZNF26@p.S33F 1 0.113861386 ENSG00000198393 chr12:133007106-133007106;C/T missense_variant False ZNF273@p.C239del 1 0.188235294 ENSG00000198039 chr7:64928043-64928045;TGT/- inframe_deletion False ZNF273@p.E490K 1 0.301204819 ENSG00000198039 chr7:64928796-64928796;G/A missense_variant False ZNF273@p.G510E 1 0.857142857 ENSG00000198039 chr7:64928857-64928857;G/A missense_variant False ZNF274@p.E102K 1 0.357142857 ENSG00000171606 chr19:58206767-58206767;G/A missense_variant False ZNF25@p.R163T 1 0.553956835 ENSG00000175395 chr10:37953010-37953010;C/G missense_variant False ZNF25@p.K180N 1 0.140350877 ENSG00000175395 chr10:37952958-37952958;C/G missense_variant False ZNF250@p.E127Q 1 0.051948052 ENSG00000196150 chr8:144882819-144882819;C/G missense_variant False ZNF251@p.Q611K 1 0.583333333 ENSG00000198169 chr8:144721829-144721829;G/T missense_variant False ZNF254@p.C548* 1 0.274193548 ENSG00000213096 chr19:24127644-24127656;TGAAAAATGTGGC/- frameshift_variant False ZNF254@p.C492R 1 0.263157895 ENSG00000213096 chr19:24127474-24127474;T/C missense_variant False ZNF254@p.A638V 1 0.12295082 ENSG00000213096 chr19:24127913-24127913;C/T missense_variant False ZNF253@p.R416I 1 0.344262295 ENSG00000256771 chr19:19892494-19892494;G/T missense_variant False ZNF253@p.E57K 1 0.094117647 ENSG00000256771 chr19:19880089-19880089;G/A missense_variant False ZNF251@p.R369K 1 0.087591241 ENSG00000198169 chr8:144722554-144722554;C/T missense_variant False ZNF251@p.L555V 1 0.5625 ENSG00000198169 chr8:144721997-144721997;G/C missense_variant False ZNF25@p.K153I 1 0.516778523 ENSG00000175395 chr10:37953040-37953040;T/A missense_variant False ZNF251@p.L165V 1 0.4609375 ENSG00000198169 chr8:144723167-144723167;A/C missense_variant False ZNF251@p.I505M 1 0.483660131 ENSG00000198169 chr8:144722145-144722145;A/C missense_variant False ZNF251@p.E422K 1 0.489208633 ENSG00000198169 chr8:144722396-144722396;C/T missense_variant False ZNF250@p.G513R 1 0.4 ENSG00000196150 chr8:144881661-144881661;C/T missense_variant False ZNF250@p.E470K 1 0.142857143 ENSG00000196150 chr8:144881790-144881790;C/T missense_variant False ZNF250@p.E392D 1 0.157894737 ENSG00000196150 chr8:144882022-144882022;C/G missense_variant False ZNF254@p.E494Q 1 0.266666667 ENSG00000213096 chr19:24127480-24127480;G/C missense_variant False ZNF254@p.H288Y 1 0.109375 ENSG00000213096 chr19:24126862-24126862;C/T missense_variant False ZNF254@p.H568Y 1 0.224137931 ENSG00000213096 chr19:24127702-24127702;C/T missense_variant False ZNF254@p.K441N 1 0.20754717 ENSG00000213096 chr19:24127323-24127323;A/C missense_variant False ZNF254@p.R277Q 1 0.117647059 ENSG00000213096 chr19:24126830-24126830;G/A missense_variant False ZNF254@p.S209F 1 0.239130435 ENSG00000213096 chr19:24126626-24126626;C/T missense_variant False ZNF256@p.H134N 1 0.052631579 ENSG00000152454 chr19:57942408-57942408;G/T missense_variant False ZNF256@p.L127V 1 0.158730159 ENSG00000152454 chr19:57942429-57942429;A/C missense_variant False ZNF256@p.R152T 1 0.244755245 ENSG00000152454 chr19:57942353-57942353;C/G missense_variant False ZNF256@p.W553C 1 0.25 ENSG00000152454 chr19:57941149-57941149;C/G missense_variant False ZNF257@p.E61K 1 0.170940171 ENSG00000197134 chr19:22073519-22073519;G/A missense_variant False ZNF257@p.K422E 1 0.304347826 ENSG00000197134 chr19:22089014-22089014;A/G missense_variant False ZNF257@p.Q361E 1 0.3 ENSG00000197134 chr19:22088831-22088831;C/G missense_variant False ZNF257@p.Q476E 1 0.346938776 ENSG00000197134 chr19:22089176-22089176;C/G missense_variant False ZNF257@p.S443Y 1 0.384615385 ENSG00000197134 chr19:22089078-22089078;C/A missense_variant False ZNF25@p.C344Y 1 0.369565217 ENSG00000175395 chr10:37952467-37952467;C/T missense_variant False ZNF25@p.F294L 1 0.135135135 ENSG00000175395 chr10:37952616-37952616;G/C missense_variant False ZNF320@p.R461T 1 0.119047619 ENSG00000182986 chr19:52880744-52880744;C/G missense_variant False ZNF324@p.E193K 1 0.333333333 ENSG00000083812 chr19:58471069-58471069;G/A missense_variant False ZNF430@p.F205L 1 0.3125 ENSG00000118620 chr19:21056923-21056923;C/G missense_variant False ZNF398@p.E564K 1 0.54 ENSG00000197024 chr7:149179562-149179562;G/A missense_variant False ZNF3@p.R275Q 1 0.137931034 ENSG00000166526 chr7:100071660-100071660;C/T missense_variant False ZNF3@p.L299V 1 0.170731707 ENSG00000166526 chr7:100071589-100071589;G/C missense_variant False ZNF3@p.L273V 1 0.207317073 ENSG00000166526 chr7:100071667-100071667;G/C missense_variant False ZNF3@p.E133Q 1 0.21969697 ENSG00000166526 chr7:100072087-100072087;C/G missense_variant False ZNF398@p.R62W 1 0.84375 ENSG00000197024 chr7:149154104-149154104;C/T missense_variant False ZNF398@p.N591S 1 0.125 ENSG00000197024 chr7:149179644-149179644;A/G missense_variant False ZNF398@p.E166Q 1 0.208333333 ENSG00000197024 chr7:149166233-149166233;G/C missense_variant False ZNF404@p.D356H 1 0.27027027 ENSG00000176222 chr19:43873148-43873148;C/G missense_variant False ZNF398@p.E161K 1 0.306666667 ENSG00000197024 chr7:149166218-149166218;G/A missense_variant False ZNF397@p.Q160H 1 0.277777778 ENSG00000186812 chr18:35243217-35243217;A/T missense_variant False ZNF397@p.E129Q 1 0.227272727 ENSG00000186812 chr18:35242855-35242855;G/C missense_variant False ZNF396@p.S205Y 1 0.511627907 ENSG00000186496 chr18:35369609-35369609;G/T missense_variant False ZNF396@p.R299Q 1 0.4375 ENSG00000186496 chr18:35369327-35369327;C/T missense_variant False ZNF395@p.S49C 1 0.333333333 ENSG00000186918 chr8:28360979-28360979;G/C missense_variant False ZNF3@p.S269C 1 0.194444444 ENSG00000166526 chr7:100071678-100071678;G/C missense_variant False ZNF404@p.E37Q 1 0.430769231 ENSG00000176222 chr19:43880037-43880037;C/G missense_variant False ZNF324@p.R126W 1 0.319587629 ENSG00000083812 chr19:58470868-58470868;C/T missense_variant False ZNF407@p.E2150K 1 0.538461538 ENSG00000215421 chr18:75064169-75064169;G/A missense_variant False ZNF407@p.R1758C 1 0.096153846 ENSG00000215421 chr18:74920536-74920536;C/T missense_variant False ZNF407@p.M894I 1 0.131578947 ENSG00000215421 chr18:74633701-74633701;G/T missense_variant False ZNF407@p.L616I 1 0.336734694 ENSG00000215421 chr18:74632865-74632865;C/A missense_variant False ZNF407@p.K1364T 1 0.46875 ENSG00000215421 chr18:74635110-74635110;A/C missense_variant False ZNF407@p.H1027Y 1 0.333333333 ENSG00000215421 chr18:74634098-74634098;C/T missense_variant False ZNF407@p.G324E 1 0.0875 ENSG00000215421 chr18:74631990-74631990;G/A missense_variant False ZNF407@p.D1418H 1 0.219512195 ENSG00000215421 chr18:74635271-74635271;G/C missense_variant False ZNF404@p.E492K 1 0.290322581 ENSG00000176222 chr19:43872740-43872740;C/T missense_variant False ZNF404@p.S396L 1 0.166666667 ENSG00000176222 chr19:43873027-43873027;G/A missense_variant False ZNF404@p.R151K 1 0.417475728 ENSG00000176222 chr19:43873762-43873762;C/T missense_variant False ZNF404@p.R141T 1 0.363636364 ENSG00000176222 chr19:43873792-43873792;C/G missense_variant False ZNF404@p.K122N 1 0.165517241 ENSG00000176222 chr19:43873848-43873848;C/G missense_variant False ZNF404@p.I208M 1 0.445544554 ENSG00000176222 chr19:43873590-43873590;A/C missense_variant False ZNF404@p.H321Y 1 0.089552239 ENSG00000176222 chr19:43873253-43873253;G/A missense_variant False ZNF395@p.R480L 1 0.162162162 ENSG00000186918 chr8:28348822-28348822;C/A missense_variant False ZNF395@p.L512V 1 0.181034483 ENSG00000186918 chr8:28348727-28348727;G/C missense_variant False ZNF395@p.L371Sfs*114 1 0.12 ENSG00000186918 chr8:28351617-28351618;-/A frameshift_variant False ZNF384@p.Q86H 1 0.291970803 ENSG00000126746 chr12:6678992-6678992;C/G missense_variant False ZNF385D@p.C206S 1 0.243589744 ENSG00000151789 chr3:21437027-21437027;A/T missense_variant False ZNF385C@p.R399H 1 0.183908046 ENSG00000187595 chr17:42027700-42027700;C/T missense_variant False ZNF385C@p.R357T 1 0.353535354 ENSG00000187595 chr17:42028147-42028147;C/G missense_variant False ZNF385B@p.S68C 1 0.294117647 ENSG00000144331 chr2:179769598-179769598;G/C missense_variant False ZNF385A@p.K207E 1 0.519607843 ENSG00000161642 chr12:54371518-54371518;T/C missense_variant False ZNF384@p.V160I 1 0.371428571 ENSG00000126746 chr12:6678335-6678335;C/T missense_variant False ZNF384@p.E572K 1 0.188679245 ENSG00000126746 chr12:6667734-6667734;C/T missense_variant False ZNF395@p.H253Y 1 0.555555556 ENSG00000186918 chr8:28353235-28353235;G/A missense_variant False ZNF383@p.S379L 1 0.127272727 ENSG00000188283 chr19:37243372-37243372;C/T missense_variant False ZNF383@p.Q327E 1 0.128571429 ENSG00000188283 chr19:37243215-37243215;C/G missense_variant False ZNF383@p.G136A 1 0.17699115 ENSG00000188283 chr19:37242643-37242643;G/C missense_variant False ZNF382@p.R152T 1 0.326086957 ENSG00000161298 chr19:36626352-36626352;G/C missense_variant False ZNF382@p.Q363H 1 0.301204819 ENSG00000161298 chr19:36626986-36626986;G/C missense_variant False ZNF382@p.P156H 1 0.112244898 ENSG00000161298 chr19:36626364-36626364;C/A missense_variant False ZNF385D@p.G151R 1 0.170731707 ENSG00000151789 chr3:21437192-21437192;C/T missense_variant False ZNF385D@p.K106N 1 0.211538462 ENSG00000151789 chr3:21510982-21510982;C/G missense_variant False ZNF385D@p.K309T 1 0.155963303 ENSG00000151789 chr3:21423991-21423991;T/G missense_variant False ZNF385D@p.L72P 1 0.117073171 ENSG00000151789 chr3:21564635-21564635;A/G missense_variant False ZNF385D@p.M114I 1 0.49044586 ENSG00000151789 chr3:21510958-21510958;C/T missense_variant False ZNF385D@p.R21H 1 0.246153846 ENSG00000151789 chr3:21664989-21664989;C/T missense_variant False ZNF385D@p.R235W 1 0.101694915 ENSG00000151789 chr3:21425641-21425641;G/A missense_variant False ZNF385D@p.T266I 1 0.20361991 ENSG00000151789 chr3:21425547-21425547;G/A missense_variant False ZNF391@p.E15K 1 0.419354839 ENSG00000124613 chr6:27400413-27400413;G/A missense_variant False ZNF391@p.H155Y 1 0.086419753 ENSG00000124613 chr6:27400833-27400833;C/T missense_variant False ZNF391@p.Q156E 1 0.113207547 ENSG00000124613 chr6:27400836-27400836;C/G missense_variant False ZNF394@p.E130D 1 0.099236641 ENSG00000160908 chr7:99499704-99499704;C/G missense_variant False ZNF394@p.E96K 1 0.575757576 ENSG00000160908 chr7:99499808-99499808;C/T missense_variant False ZNF394@p.F340L 1 0.25 ENSG00000160908 chr7:99494195-99494195;G/T missense_variant False ZNF394@p.R125P 1 0.158333333 ENSG00000160908 chr7:99499720-99499720;C/G missense_variant False ZNF394@p.R140Q 1 0.282352941 ENSG00000160908 chr7:99499675-99499675;C/T missense_variant False ZNF394@p.R86Q 1 0.183333333 ENSG00000160908 chr7:99499837-99499837;C/T missense_variant False ZNF407@p.S1029C 1 0.081395349 ENSG00000215421 chr18:74634105-74634105;C/G missense_variant False ZNF407@p.S1411F 1 0.350877193 ENSG00000215421 chr18:74635251-74635251;C/T missense_variant False ZNF407@p.S1813F 1 0.36196319 ENSG00000215421 chr18:75063159-75063159;C/T missense_variant False ZNF423@p.S486F 1 0.142857143 ENSG00000102935 chr16:49637719-49637719;G/A missense_variant False ZNF425@p.E37Q 1 0.042424242 ENSG00000204947 chr7:149118258-149118258;C/G missense_variant False ZNF425@p.E250K 1 0.279069767 ENSG00000204947 chr7:149105123-149105123;C/T missense_variant False ZNF425@p.A583V 1 0.222222222 ENSG00000204947 chr7:149104123-149104123;G/A missense_variant False ZNF423@p.Y700N 1 0.350649351 ENSG00000102935 chr16:49637078-49637078;A/T missense_variant False ZNF423@p.S821N 1 0.606060606 ENSG00000102935 chr16:49636714-49636714;C/T missense_variant False ZNF423@p.S629L 1 0.393442623 ENSG00000102935 chr16:49637290-49637290;G/A missense_variant False ZNF423@p.S1061C 1 0.132075472 ENSG00000102935 chr16:49635994-49635994;G/C missense_variant False ZNF423@p.F150L 1 0.714285714 ENSG00000102935 chr16:49638728-49638728;A/G missense_variant False ZNF423@p.R189C 1 0.5 ENSG00000102935 chr16:49638611-49638611;G/A missense_variant False ZNF423@p.Q1035H 1 0.104166667 ENSG00000102935 chr16:49636071-49636071;C/G missense_variant False ZNF423@p.P785T 1 0.105263158 ENSG00000102935 chr16:49636823-49636823;G/T missense_variant False ZNF423@p.H596del 1 0.134328358 ENSG00000102935 chr16:49637388-49637390;GTG/- inframe_deletion False ZNF423@p.H467R 1 0.220183486 ENSG00000102935 chr16:49637776-49637776;T/C missense_variant False ZNF423@p.H216N 1 0.2 ENSG00000102935 chr16:49638530-49638530;G/T missense_variant False ZNF425@p.F246L 1 0.315217391 ENSG00000204947 chr7:149105133-149105133;G/C missense_variant False ZNF425@p.F330L 1 0.198019802 ENSG00000204947 chr7:149104881-149104881;G/C missense_variant False ZNF425@p.H408Y 1 0.263681592 ENSG00000204947 chr7:149104649-149104649;G/A missense_variant False ZNF425@p.R424H 1 0.107142857 ENSG00000204947 chr7:149104600-149104600;C/T missense_variant False ZNF425@p.R458C 1 0.06122449 ENSG00000204947 chr7:149104499-149104499;G/A missense_variant False ZNF425@p.R658Q 1 0.122137405 ENSG00000204947 chr7:149103898-149103898;C/T missense_variant False ZNF426@p.I271T 1 0.395939086 ENSG00000130818 chr19:9529233-9529233;A/G missense_variant False ZNF426@p.R440Q 1 0.336734694 ENSG00000130818 chr19:9528726-9528726;C/T missense_variant False ZNF426@p.S405L 1 0.230769231 ENSG00000130818 chr19:9528831-9528831;G/A missense_variant False ZNF429@p.G169E 1 0.404255319 ENSG00000197013 chr19:21536559-21536559;G/A missense_variant False ZNF429@p.H363Y 1 0.225 ENSG00000197013 chr19:21537140-21537140;C/T missense_variant False ZNF429@p.H499Y 1 0.129411765 ENSG00000197013 chr19:21537548-21537548;C/T missense_variant False ZNF429@p.K556N 1 0.457627119 ENSG00000197013 chr19:21537721-21537721;G/T missense_variant False ZNF429@p.Q610E 1 0.072072072 ENSG00000197013 chr19:21537881-21537881;C/G missense_variant False ZNF429@p.R166T 1 0.116666667 ENSG00000197013 chr19:21536550-21536550;G/C missense_variant False ZNF429@p.S280F 1 0.168421053 ENSG00000197013 chr19:21536892-21536892;C/T missense_variant False ZNF430@p.E398D 1 0.178571429 ENSG00000118620 chr19:21057502-21057502;G/C missense_variant False ZNF423@p.G1027V 1 0.675 ENSG00000102935 chr16:49636096-49636096;C/A missense_variant False ZNF423@p.F1185L 1 0.207207207 ENSG00000102935 chr16:49626216-49626216;G/C missense_variant False ZNF407@p.S228L 1 0.094972067 ENSG00000215421 chr18:74631702-74631702;C/T missense_variant False ZNF415@p.E104K 1 0.564516129 ENSG00000170954 chr19:53109735-53109735;C/T missense_variant False ZNF417@p.E198K 1 0.31372549 ENSG00000173480 chr19:57909686-57909686;C/T missense_variant False ZNF415@p.Y524F 1 0.511976048 ENSG00000170954 chr19:53108474-53108474;T/A missense_variant False ZNF415@p.S25F 1 0.408839779 ENSG00000170954 chr19:53116375-53116375;G/A missense_variant False ZNF415@p.S168F 1 0.416666667 ENSG00000170954 chr19:53109542-53109542;G/A missense_variant False ZNF415@p.R234C 1 0.298076923 ENSG00000170954 chr19:53109345-53109345;G/A missense_variant False ZNF415@p.E37K 1 0.103448276 ENSG00000170954 chr19:53116340-53116340;C/T missense_variant False ZNF410@p.V332I 1 0.374045802 ENSG00000119725 chr14:73909421-73909421;G/A missense_variant False ZNF423@p.E64D 1 0.19160105 ENSG00000102935 chr16:49730880-49730880;C/G missense_variant False ZNF408@p.H569Y 1 0.184210526 ENSG00000175213 chr11:46705405-46705405;C/T missense_variant False ZNF408@p.G289_S291del 1 0.347826087 ENSG00000175213 chr11:46704561-46704569;CAGTGGAGC/- inframe_deletion False ZNF408@p.G118E 1 0.112244898 ENSG00000175213 chr11:46702726-46702726;G/A missense_variant False ZNF407@p.V697* 1 0.242424242 ENSG00000215421 chr18:74633106-74633106;A/- frameshift_variant False ZNF407@p.S54L 1 0.1875 ENSG00000215421 chr18:74631180-74631180;C/T missense_variant False ZNF407@p.S47F 1 0.075 ENSG00000215421 chr18:74631159-74631159;C/T missense_variant False ZNF418@p.E458Q 1 0.677631579 ENSG00000196724 chr19:57926809-57926809;C/G missense_variant False ZNF418@p.G133R 1 0.491071429 ENSG00000196724 chr19:57927784-57927784;C/T missense_variant False ZNF418@p.H500Y 1 0.611764706 ENSG00000196724 chr19:57926683-57926683;G/A missense_variant False ZNF418@p.M209I 1 0.144736842 ENSG00000196724 chr19:57927554-57927554;C/T missense_variant False ZNF418@p.Q549H 1 0.328947368 ENSG00000196724 chr19:57926534-57926534;C/G missense_variant False ZNF418@p.S43F 1 0.601626016 ENSG00000196724 chr19:57930433-57930433;G/A missense_variant False ZNF419@p.E108K 1 0.512195122 ENSG00000105136 chr19:57492879-57492879;G/A missense_variant False ZNF41@p.E660K 1 0.414634146 ENSG00000147124 chrX:47447792-47447792;C/T missense_variant False ZNF41@p.H506D 1 0.186666667 ENSG00000147124 chrX:47448254-47448254;G/C missense_variant False ZNF420@p.E311Q 1 0.082644628 ENSG00000197050 chr19:37127922-37127922;G/C missense_variant False ZNF420@p.G543S 1 0.308510638 ENSG00000197050 chr19:37128618-37128618;G/A missense_variant False ZNF420@p.Q410H 1 0.219512195 ENSG00000197050 chr19:37128221-37128221;G/C missense_variant False ZNF420@p.Q606H 1 0.293103448 ENSG00000197050 chr19:37128809-37128809;G/C missense_variant False ZNF420@p.R383I 1 0.445454545 ENSG00000197050 chr19:37128139-37128139;G/T missense_variant False ZNF420@p.R618K 1 0.3 ENSG00000197050 chr19:37128844-37128844;G/A missense_variant False ZNF423@p.E1231Q 1 0.698412698 ENSG00000102935 chr16:49525405-49525405;C/G missense_variant False ZNF423@p.E619V 1 0.441441441 ENSG00000102935 chr16:49637320-49637320;T/A missense_variant False ZNF382@p.P100H 1 0.320987654 ENSG00000161298 chr19:36626196-36626196;C/A missense_variant False ZNF382@p.L262R 1 0.111111111 ENSG00000161298 chr19:36626682-36626682;T/G missense_variant False ZNF382@p.L193I 1 0.459016393 ENSG00000161298 chr19:36626474-36626474;C/A missense_variant False ZNF337@p.R327Q 1 0.242990654 ENSG00000130684 chr20:25676308-25676308;C/T missense_variant False ZNF33B@p.E169K 1 0.0875 ENSG00000196693 chr10:42594445-42594445;C/T missense_variant False ZNF33A@p.Q759E 1 0.52173913 ENSG00000189180 chr10:38056402-38056402;C/G missense_variant False ZNF33A@p.H56Y 1 0.303571429 ENSG00000189180 chr10:38017302-38017302;C/T missense_variant False ZNF33A@p.E69K 1 0.275700935 ENSG00000189180 chr10:38017341-38017341;G/A missense_variant False ZNF337@p.R705T 1 0.458100559 ENSG00000130684 chr20:25675174-25675174;C/G missense_variant False ZNF337@p.R523Q 1 0.066666667 ENSG00000130684 chr20:25675720-25675720;C/T missense_variant False ZNF337@p.R243Q 1 0.211382114 ENSG00000130684 chr20:25676560-25676560;C/T missense_variant False ZNF335@p.E706K 1 0.14 ENSG00000198026 chr20:45959338-45959338;C/T missense_variant False ZNF337@p.Q395H 1 0.223140496 ENSG00000130684 chr20:25676103-25676103;C/G missense_variant False ZNF337@p.K374Afs*8 1 0.126213592 ENSG00000130684 chr20:25676174-25676175;CT/- frameshift_variant False ZNF337@p.K192N 1 0.518987342 ENSG00000130684 chr20:25676712-25676712;C/G missense_variant False ZNF337@p.G440E 1 0.256 ENSG00000130684 chr20:25675969-25675969;C/T missense_variant False ZNF337@p.D408Y 1 0.152173913 ENSG00000130684 chr20:25676066-25676066;C/A missense_variant False ZNF335@p.P216L 1 0.220338983 ENSG00000198026 chr20:45967901-45967901;G/A missense_variant False ZNF33B@p.E220Q 1 0.212962963 ENSG00000196693 chr10:42594292-42594292;C/G missense_variant False ZNF33B@p.E774G 1 0.136842105 ENSG00000196693 chr10:42592629-42592629;T/C missense_variant False ZNF33B@p.S720C 1 0.423423423 ENSG00000196693 chr10:42592791-42592791;G/C missense_variant False ZNF33B@p.Y528F 1 0.2875 ENSG00000196693 chr10:42593367-42593367;T/A missense_variant False ZNF341@p.E50V 1 0.380952381 ENSG00000131061 chr20:33745109-33745109;A/T missense_variant False ZNF341@p.L733V 1 0.145038168 ENSG00000131061 chr20:33791149-33791149;C/G missense_variant False ZNF341@p.P160Hfs*7 1 0.279411765 ENSG00000131061 chr20:33749057-33749057;C/- frameshift_variant False ZNF341@p.P576S 1 0.123966942 ENSG00000131061 chr20:33783738-33783738;C/T missense_variant False ZNF343@p.C439F 1 0.259259259 ENSG00000088876 chr20:2483645-2483645;C/A missense_variant False ZNF343@p.E553K 1 0.436893204 ENSG00000088876 chr20:2483304-2483304;C/T missense_variant False ZNF343@p.K533N 1 0.122222222 ENSG00000088876 chr20:2483362-2483362;C/A missense_variant False ZNF343@p.Q50H 1 0.256756757 ENSG00000088876 chr20:2493546-2493546;C/G missense_variant False ZNF345@p.G128R 1 0.339285714 ENSG00000251247 chr19:36877212-36877212;G/C missense_variant False ZNF345@p.L453R 1 0.357723577 ENSG00000251247 chr19:36878188-36878188;T/G missense_variant False ZNF345@p.Q331K 1 0.115384615 ENSG00000251247 chr19:36877821-36877821;C/A missense_variant False ZNF345@p.S467L 1 0.131034483 ENSG00000251247 chr19:36878230-36878230;C/T missense_variant False ZNF345@p.Y314C 1 0.2125 ENSG00000251247 chr19:36877771-36877771;A/G missense_variant False ZNF335@p.K600N 1 0.295857988 ENSG00000198026 chr20:45960508-45960508;C/G missense_variant False ZNF335@p.E1246K 1 0.388888889 ENSG00000198026 chr20:45949502-45949502;C/T missense_variant False ZNF347@p.E211Q 1 0.175438596 ENSG00000197937 chr19:53142197-53142197;C/G missense_variant False ZNF326@p.S114Y 1 0.070247934 ENSG00000162664 chr1:90007476-90007476;C/A missense_variant False ZNF329@p.L246M 1 0.086956522 ENSG00000181894 chr19:58128768-58128768;G/T missense_variant False ZNF329@p.H505Q 1 0.421875 ENSG00000181894 chr19:58127989-58127989;A/T missense_variant False ZNF329@p.H137Y 1 0.314285714 ENSG00000181894 chr19:58129095-58129095;G/A missense_variant False ZNF329@p.G377R 1 0.074074074 ENSG00000181894 chr19:58128375-58128375;C/T missense_variant False ZNF329@p.G120S 1 0.108571429 ENSG00000181894 chr19:58129146-58129146;C/T missense_variant False ZNF329@p.E452K 1 0.118421053 ENSG00000181894 chr19:58128150-58128150;C/T missense_variant False ZNF324B@p.S129F 1 0.262411348 ENSG00000249471 chr19:58455330-58455330;C/T missense_variant False ZNF335@p.D1341N 1 0.247524752 ENSG00000198026 chr20:45948961-45948961;C/T missense_variant False ZNF324B@p.G186R 1 0.4 ENSG00000249471 chr19:58455500-58455500;G/A missense_variant False ZNF324B@p.F413C 1 0.05 ENSG00000249471 chr19:58456182-58456182;T/G missense_variant False ZNF324B@p.E193K 1 0.194444444 ENSG00000249471 chr19:58455521-58455521;G/A missense_variant False ZNF324B@p.A24T 1 0.415254237 ENSG00000249471 chr19:58453771-58453771;G/A missense_variant False ZNF324@p.V509I 1 0.205128205 ENSG00000083812 chr19:58472017-58472017;G/A missense_variant False ZNF324@p.R488C 1 0.10989011 ENSG00000083812 chr19:58471954-58471954;C/T missense_variant False ZNF329@p.R298Q 1 0.427672956 ENSG00000181894 chr19:58128611-58128611;C/T missense_variant False ZNF329@p.T310K 1 0.102040816 ENSG00000181894 chr19:58128575-58128575;G/T missense_variant False ZNF32@p.R75T 1 0.616438356 ENSG00000169740 chr10:43644648-43644648;C/G missense_variant False ZNF330@p.E294K 1 0.313432836 ENSG00000109445 chr4:141233906-141233906;G/A missense_variant False ZNF330@p.F144L 1 0.2 ENSG00000109445 chr4:141230179-141230179;C/G missense_variant False ZNF330@p.G311V 1 0.533333333 ENSG00000109445 chr4:141233958-141233958;G/T missense_variant False ZNF330@p.K50N 1 0.1125 ENSG00000109445 chr4:141224616-141224616;G/C missense_variant False ZNF330@p.Q183H 1 0.243362832 ENSG00000109445 chr4:141231464-141231464;G/C missense_variant False ZNF331@p.H405Y 1 0.557692308 ENSG00000130844 chr19:53577773-53577773;C/T missense_variant False ZNF331@p.W83L 1 0.154929577 ENSG00000130844 chr19:53576808-53576808;G/T missense_variant False ZNF333@p.S603L 1 0.353982301 ENSG00000160961 chr19:14719135-14719135;C/T missense_variant False ZNF334@p.G457V 1 0.153846154 ENSG00000198185 chr20:46501969-46501969;C/A missense_variant False ZNF334@p.K213T 1 0.43902439 ENSG00000198185 chr20:46502701-46502701;T/G missense_variant False ZNF334@p.Q203E 1 0.134615385 ENSG00000198185 chr20:46502732-46502732;G/C missense_variant False ZNF334@p.Q77E 1 0.395833333 ENSG00000198185 chr20:46504226-46504226;G/C missense_variant False ZNF335@p.D1210H 1 0.435897436 ENSG00000198026 chr20:45949841-45949841;C/G missense_variant False ZNF335@p.D1210N 1 0.133333333 ENSG00000198026 chr20:45949841-45949841;C/T missense_variant False ZNF346@p.R128I 1 0.277777778 ENSG00000113761 chr5:177044399-177044399;G/T missense_variant False ZNF347@p.E594K 1 0.114634146 ENSG00000197937 chr19:53141048-53141048;C/T missense_variant False ZNF382@p.H483Y 1 0.390625 ENSG00000161298 chr19:36627344-36627344;C/T missense_variant False ZNF35@p.S232T 1 0.389473684 ENSG00000169981 chr3:44659058-44659058;G/C missense_variant False ZNF365@p.R233W 1 0.804597701 ENSG00000138311 chr10:62376890-62376890;A/T missense_variant False ZNF365@p.I180T 1 0.251461988 ENSG00000138311 chr10:62376732-62376732;T/C missense_variant False ZNF365@p.E286Gfs*36 1 0.133333333 ENSG00000138311 chr10:62388509-62388509;A/- frameshift_variant False ZNF362@p.H393Q 1 0.076923077 ENSG00000160094 chr1:33298962-33298962;C/G missense_variant False ZNF362@p.A267T 1 0.112903226 ENSG00000160094 chr1:33281702-33281702;G/A missense_variant False ZNF35@p.S431C 1 0.348314607 ENSG00000169981 chr3:44659655-44659655;C/G missense_variant False ZNF35@p.R175I 1 0.746666667 ENSG00000169981 chr3:44658887-44658887;G/T missense_variant False ZNF358@p.L71M 1 0.096774194 ENSG00000198816 chr19:7519453-7519453;C/A missense_variant False ZNF35@p.Q373H 1 0.333333333 ENSG00000169981 chr3:44659482-44659482;G/T missense_variant False ZNF35@p.Q297E 1 0.35443038 ENSG00000169981 chr3:44659252-44659252;C/G missense_variant False ZNF35@p.Q261H 1 0.111111111 ENSG00000169981 chr3:44659146-44659146;G/C missense_variant False ZNF35@p.Q261E 1 0.154929577 ENSG00000169981 chr3:44659144-44659144;C/G missense_variant False ZNF35@p.E499D 1 0.3 ENSG00000169981 chr3:44659860-44659860;G/C missense_variant False ZNF35@p.E27K 1 0.153846154 ENSG00000169981 chr3:44651146-44651146;G/A missense_variant False ZNF365@p.R323Q 1 0.094594595 ENSG00000138311 chr10:62399533-62399533;G/A missense_variant False ZNF365@p.Y11F 1 0.34375 ENSG00000138311 chr10:62376225-62376225;A/T missense_variant False ZNF366@p.D65Y 1 0.318181818 ENSG00000178175 chr5:72461304-72461304;C/A missense_variant False ZNF366@p.E72K 1 0.411111111 ENSG00000178175 chr5:72461283-72461283;C/T missense_variant False ZNF366@p.F15L 1 0.285714286 ENSG00000178175 chr5:72461452-72461452;G/T missense_variant False ZNF366@p.F402L 1 0.192307692 ENSG00000178175 chr5:72460291-72460291;G/T missense_variant False ZNF366@p.P166H 1 0.564516129 ENSG00000178175 chr5:72461000-72461000;G/T missense_variant False ZNF366@p.Q127E 1 0.358108108 ENSG00000178175 chr5:72461118-72461118;G/C missense_variant False ZNF37A@p.C205R 1 0.392857143 ENSG00000075407 chr10:38117764-38117764;T/C missense_variant False ZNF37A@p.E464K 1 0.289473684 ENSG00000075407 chr10:38118541-38118541;G/A missense_variant False ZNF37A@p.F93L 1 0.928571429 ENSG00000075407 chr10:38117430-38117430;C/G missense_variant False ZNF37A@p.G453S 1 0.390243902 ENSG00000075407 chr10:38118508-38118508;G/A missense_variant False ZNF37A@p.G547R 1 0.183673469 ENSG00000075407 chr10:38118790-38118790;G/C missense_variant False ZNF37A@p.S225R 1 0.096774194 ENSG00000075407 chr10:38117826-38117826;C/G missense_variant False ZNF382@p.D245H 1 0.3 ENSG00000161298 chr19:36626630-36626630;G/C missense_variant False ZNF382@p.D25H 1 0.115044248 ENSG00000161298 chr19:36609987-36609987;G/C missense_variant False ZNF382@p.E241K 1 0.386666667 ENSG00000161298 chr19:36626618-36626618;G/A missense_variant False ZNF35@p.C336R 1 0.084507042 ENSG00000169981 chr3:44659369-44659369;T/C missense_variant False ZNF358@p.L106F 1 0.226890756 ENSG00000198816 chr19:7519558-7519558;C/T missense_variant False ZNF347@p.E829Q 1 0.203488372 ENSG00000197937 chr19:53140343-53140343;C/G missense_variant False ZNF34@p.T432S 1 0.2 ENSG00000196378 chr8:144773655-144773655;T/A missense_variant False ZNF354A@p.D101H 1 0.113636364 ENSG00000169131 chr5:178713577-178713577;C/G missense_variant False ZNF350@p.Q463H 1 0.517241379 ENSG00000256683 chr19:51965064-51965064;T/A missense_variant False ZNF350@p.G477S 1 0.266666667 ENSG00000256683 chr19:51965024-51965024;C/T missense_variant False ZNF350@p.G258E 1 0.242424242 ENSG00000256683 chr19:51965680-51965680;C/T missense_variant False ZNF350@p.G230E 1 0.161290323 ENSG00000256683 chr19:51965764-51965764;C/T missense_variant False ZNF350@p.E150K 1 0.613445378 ENSG00000256683 chr19:51966005-51966005;C/T missense_variant False ZNF34@p.R119K 1 0.210843373 ENSG00000196378 chr8:144774593-144774593;C/T missense_variant False ZNF354C@p.S22N 1 0.237288136 ENSG00000177932 chr5:179076482-179076482;G/A missense_variant False ZNF34@p.Q514H 1 0.348314607 ENSG00000196378 chr8:144773407-144773407;C/G missense_variant False ZNF34@p.H542Q 1 0.287234043 ENSG00000196378 chr8:144773323-144773323;G/C missense_variant False ZNF34@p.C421R 1 0.292682927 ENSG00000196378 chr8:144773688-144773688;A/G missense_variant False ZNF347@p.T592A 1 0.27027027 ENSG00000197937 chr19:53141054-53141054;T/C missense_variant False ZNF347@p.Q189E 1 0.147368421 ENSG00000197937 chr19:53142263-53142263;G/C missense_variant False ZNF347@p.M542I 1 0.297794118 ENSG00000197937 chr19:53141202-53141202;C/A missense_variant False ZNF354A@p.E233K 1 0.108108108 ENSG00000169131 chr5:178713181-178713181;C/T missense_variant False ZNF354A@p.E358K 1 0.345794393 ENSG00000169131 chr5:178712806-178712806;C/T missense_variant False ZNF354A@p.E603V 1 0.551020408 ENSG00000169131 chr5:178712070-178712070;T/A missense_variant False ZNF354A@p.F223L 1 0.322580645 ENSG00000169131 chr5:178713209-178713209;G/T missense_variant False ZNF354A@p.F503L 1 0.223404255 ENSG00000169131 chr5:178712369-178712369;G/C missense_variant False ZNF354A@p.G434A 1 0.161016949 ENSG00000169131 chr5:178712577-178712577;C/G missense_variant False ZNF354A@p.G69A 1 0.148148148 ENSG00000169131 chr5:178725426-178725426;C/G missense_variant False ZNF354A@p.Q539E 1 0.139130435 ENSG00000169131 chr5:178712263-178712263;G/C missense_variant False ZNF354A@p.R350T 1 0.246153846 ENSG00000169131 chr5:178712829-178712829;C/G missense_variant False ZNF354A@p.S297C 1 0.224299065 ENSG00000169131 chr5:178712988-178712988;G/C missense_variant False ZNF354A@p.S349Y 1 0.445783133 ENSG00000169131 chr5:178712832-178712832;G/T missense_variant False ZNF354B@p.S311F 1 0.333333333 ENSG00000178338 chr5:178883384-178883384;C/T missense_variant False ZNF354B@p.T184Nfs*6 1 0.102941176 ENSG00000178338 chr5:178882996-178882997;-/A frameshift_variant False ZNF354C@p.E278D 1 0.277372263 ENSG00000177932 chr5:179079266-179079266;G/T missense_variant False ZNF354C@p.H238N 1 0.517241379 ENSG00000177932 chr5:179079144-179079144;C/A missense_variant False ZNF354C@p.R264I 1 0.455696203 ENSG00000177932 chr5:179079223-179079223;G/T missense_variant False ZNF354C@p.R292T 1 0.1 ENSG00000177932 chr5:179079307-179079307;G/C missense_variant False ZNF582@p.S222F 1 0.391304348 ENSG00000018869 chr19:56384752-56384752;G/A missense_variant False ZNF583@p.G133E 1 0.427083333 ENSG00000198440 chr19:56423056-56423056;G/A missense_variant False ZNF583@p.H458N 1 0.207207207 ENSG00000198440 chr19:56424030-56424030;C/A missense_variant False ZNF830@p.S6F 1 0.240740741 ENSG00000198783 chr17:34961583-34961583;C/T missense_variant False ZNF831@p.G863R 1 0.819875776 ENSG00000124203 chr20:59193606-59193606;G/A missense_variant False ZNF831@p.G211Pfs*88 1 0.157894737 ENSG00000124203 chr20:59191648-59191652;GGGGC/- frameshift_variant False ZNF831@p.G168D 1 0.137142857 ENSG00000124203 chr20:59191522-59191522;G/A missense_variant False ZNF831@p.E878K 1 0.1328125 ENSG00000124203 chr20:59193651-59193651;G/A missense_variant False ZNF831@p.E374K 1 0.35 ENSG00000124203 chr20:59192139-59192139;G/A missense_variant False ZNF831@p.A664S 1 0.666666667 ENSG00000124203 chr20:59193009-59193009;G/T missense_variant False ZNF830@p.E227K 1 0.15 ENSG00000198783 chr17:34962245-34962245;G/A missense_variant False ZNF831@p.I1004M 1 0.340425532 ENSG00000124203 chr20:59194031-59194031;C/G missense_variant False ZNF830@p.E167K 1 0.463414634 ENSG00000198783 chr17:34962065-34962065;G/A missense_variant False ZNF829@p.S419R 1 0.120481928 ENSG00000185869 chr19:36891536-36891536;T/G missense_variant False ZNF829@p.S194R 1 0.179856115 ENSG00000185869 chr19:36892211-36892211;T/G missense_variant False ZNF829@p.R176I 1 0.4 ENSG00000185869 chr19:36892264-36892264;C/A missense_variant False ZNF829@p.Q203H 1 0.234375 ENSG00000185869 chr19:36892182-36892182;C/G missense_variant False ZNF829@p.K406Q 1 0.065789474 ENSG00000185869 chr19:36891575-36891575;T/G missense_variant False ZNF831@p.H1411Y 1 0.192982456 ENSG00000124203 chr20:59253940-59253940;C/T missense_variant False ZNF831@p.L121V 1 0.271428571 ENSG00000124203 chr20:59191380-59191380;C/G missense_variant False ZNF93@p.K304N 1 0.434782609 ENSG00000184635 chr19:19933867-19933867;G/C missense_variant False ZNF835@p.R100Q 1 0.356321839 ENSG00000127903 chr19:56664900-56664900;C/T missense_variant False ZNF836@p.S648N 1 0.206751055 ENSG00000196267 chr19:52155740-52155740;C/T missense_variant False ZNF836@p.S371F 1 0.302521008 ENSG00000196267 chr19:52156571-52156571;G/A missense_variant False ZNF836@p.R322K 1 0.512195122 ENSG00000196267 chr19:52156718-52156718;C/T missense_variant False ZNF836@p.E84Q 1 0.317073171 ENSG00000196267 chr19:52157433-52157433;C/G missense_variant False ZNF836@p.E579G 1 0.513761468 ENSG00000196267 chr19:52155947-52155947;T/C missense_variant False ZNF835@p.S500L 1 0.480519481 ENSG00000127903 chr19:56663700-56663700;G/A missense_variant False ZNF835@p.P509H 1 0.293333333 ENSG00000127903 chr19:56663673-56663673;G/T missense_variant False ZNF831@p.P765L 1 0.333333333 ENSG00000124203 chr20:59193313-59193313;C/T missense_variant False ZNF835@p.P193L 1 0.208333333 ENSG00000127903 chr19:56664621-56664621;G/A missense_variant False ZNF835@p.E219K 1 0.414634146 ENSG00000127903 chr19:56664544-56664544;C/T missense_variant False ZNF831@p.S1467L 1 0.37804878 ENSG00000124203 chr20:59254109-59254109;C/T missense_variant False ZNF831@p.S1204F 1 0.240740741 ENSG00000124203 chr20:59194630-59194630;C/T missense_variant False ZNF831@p.S1043L 1 0.692307692 ENSG00000124203 chr20:59194147-59194147;C/T missense_variant False ZNF831@p.R457H 1 0.384615385 ENSG00000124203 chr20:59192389-59192389;G/A missense_variant False ZNF829@p.F389S 1 0.20212766 ENSG00000185869 chr19:36891625-36891625;A/G missense_variant False ZNF827@p.S518L 1 0.134453782 ENSG00000151612 chr4:145885872-145885872;G/A missense_variant False ZNF827@p.S511I 1 0.522123894 ENSG00000151612 chr4:145885893-145885893;C/A missense_variant False ZNF816@p.Q45H 1 0.275 ENSG00000180257 chr19:52952806-52952806;C/G missense_variant False ZNF81@p.H660Y 1 0.125 ENSG00000197779 chrX:47916624-47916624;C/T missense_variant False ZNF81@p.G252V 1 0.25 ENSG00000197779 chrX:47915401-47915401;G/T missense_variant False ZNF816@p.S66C 1 0.323076923 ENSG00000180257 chr19:52951578-52951578;G/C missense_variant False ZNF816@p.R557K 1 0.226950355 ENSG00000180257 chr19:52950105-52950105;C/T missense_variant False ZNF816@p.R409T 1 0.089655172 ENSG00000180257 chr19:52950549-52950549;C/G missense_variant False ZNF816@p.R253T 1 0.551948052 ENSG00000180257 chr19:52951017-52951017;C/G missense_variant False ZNF816@p.L24F 1 0.177419355 ENSG00000180257 chr19:52952869-52952869;C/G missense_variant False ZNF827@p.S362C 1 0.695652174 ENSG00000151612 chr4:145902174-145902174;G/C missense_variant False ZNF816@p.L164M 1 0.207482993 ENSG00000180257 chr19:52951285-52951285;G/T missense_variant False ZNF816@p.H307Y 1 0.445070423 ENSG00000180257 chr19:52950856-52950856;G/A missense_variant False ZNF816@p.G393A 1 0.403508772 ENSG00000180257 chr19:52950597-52950597;C/G missense_variant False ZNF816@p.E625K 1 0.086734694 ENSG00000180257 chr19:52949902-52949902;C/T missense_variant False ZNF816-ZNF321P@p.S75L 1 0.530434783 ENSG00000221874 chr19:52929381-52929381;G/A missense_variant False ZNF816-ZNF321P@p.M70I 1 0.069387755 ENSG00000221874 chr19:52929395-52929395;C/T missense_variant False ZNF81@p.P178S 1 0.283018868 ENSG00000197779 chrX:47915178-47915178;C/T missense_variant False ZNF81@p.Q446E 1 0.388888889 ENSG00000197779 chrX:47915982-47915982;C/G missense_variant False ZNF821@p.E99K 1 0.169014085 ENSG00000102984 chr16:71864920-71864920;C/T missense_variant False ZNF823@p.E155Q 1 0.145833333 ENSG00000197933 chr19:11723071-11723071;C/G missense_variant False ZNF823@p.E500A 1 0.423076923 ENSG00000197933 chr19:11722035-11722035;T/G missense_variant False ZNF823@p.G22S 1 0.064516129 ENSG00000197933 chr19:11725267-11725267;C/T missense_variant False ZNF823@p.L196S 1 0.088435374 ENSG00000197933 chr19:11722947-11722947;A/G missense_variant False ZNF823@p.R432Q 1 0.376811594 ENSG00000197933 chr19:11722239-11722239;C/T missense_variant False ZNF823@p.R544Q 1 0.174603175 ENSG00000197933 chr19:11721903-11721903;C/T missense_variant False ZNF823@p.R600T 1 0.060606061 ENSG00000197933 chr19:11721735-11721735;C/G missense_variant False ZNF823@p.Y583C 1 0.287356322 ENSG00000197933 chr19:11721786-11721786;T/C missense_variant False ZNF827@p.E1048Q 1 0.225352113 ENSG00000151612 chr4:145765076-145765076;C/G missense_variant False ZNF827@p.E38D 1 0.267605634 ENSG00000151612 chr4:145903145-145903145;C/G missense_variant False ZNF827@p.E528K 1 0.358974359 ENSG00000151612 chr4:145885843-145885843;C/T missense_variant False ZNF827@p.G1004R 1 0.974576271 ENSG00000151612 chr4:145765589-145765589;C/G missense_variant False ZNF827@p.L538F 1 0.081632653 ENSG00000151612 chr4:145885811-145885811;C/G missense_variant False ZNF827@p.P361A 1 0.181818182 ENSG00000151612 chr4:145902178-145902178;G/C missense_variant False ZNF839@p.D52H 1 0.672413793 ENSG00000022976 chr14:102326198-102326198;G/C missense_variant False ZNF839@p.D661N 1 0.067669173 ENSG00000022976 chr14:102341724-102341724;G/A missense_variant False ZNF839@p.L156V 1 0.2 ENSG00000022976 chr14:102326510-102326510;C/G missense_variant False ZNF91@p.E113G 1 0.191666667 ENSG00000167232 chr19:23362641-23362641;T/C missense_variant False ZNF91@p.E550K 1 0.35 ENSG00000167232 chr19:23361331-23361331;C/T missense_variant False ZNF91@p.E521K 1 0.141025641 ENSG00000167232 chr19:23361418-23361418;C/T missense_variant False ZNF91@p.E438Q 1 0.057142857 ENSG00000167232 chr19:23361667-23361667;C/G missense_variant False ZNF91@p.E263Q 1 0.4 ENSG00000167232 chr19:23362192-23362192;C/G missense_variant False ZNF91@p.E21K 1 0.246575342 ENSG00000167232 chr19:23374734-23374734;C/T missense_variant False ZNF91@p.E137Q 1 0.288888889 ENSG00000167232 chr19:23362570-23362570;C/G missense_variant False ZNF91@p.D93N 1 0.089552239 ENSG00000167232 chr19:23362702-23362702;C/T missense_variant False ZNF875@p.F588S 1 0.523364486 ENSG00000181666 chr19:37363558-37363558;T/C missense_variant False ZNF8@p.E458K 1 0.082417582 ENSG00000278129 chr19:58295180-58295180;G/A missense_variant False ZNF880@p.F221S 1 0.583333333 ENSG00000221923 chr19:52384242-52384242;T/C missense_variant False ZNF878@p.Q25H 1 0.426829268 ENSG00000257446 chr19:12046689-12046689;C/A missense_variant False ZNF878@p.I67V 1 0.266666667 ENSG00000257446 chr19:12045202-12045202;T/C missense_variant False ZNF878@p.E452K 1 0.226415094 ENSG00000257446 chr19:12044047-12044047;C/T missense_variant False ZNF875@p.S296F 1 0.049180328 ENSG00000181666 chr19:37362682-37362682;C/T missense_variant False ZNF91@p.I595F 1 0.181034483 ENSG00000167232 chr19:23361196-23361196;T/A missense_variant False ZNF91@p.K285N 1 0.390728477 ENSG00000167232 chr19:23362124-23362124;C/G missense_variant False ZNF91@p.K369N 1 0.225352113 ENSG00000167232 chr19:23361872-23361872;C/G missense_variant False ZNF91@p.K385E 1 0.314285714 ENSG00000167232 chr19:23361826-23361826;T/C missense_variant False ZNF91@p.L160F 1 0.235294118 ENSG00000167232 chr19:23362499-23362499;C/G missense_variant False ZNF91@p.P2L 1 0.217391304 ENSG00000167232 chr19:23395350-23395350;G/A missense_variant False ZNF91@p.S103Y 1 0.488372093 ENSG00000167232 chr19:23362671-23362671;G/T missense_variant False ZNF91@p.S363L 1 0.158730159 ENSG00000167232 chr19:23361891-23361891;G/A missense_variant False ZNF91@p.S391L 1 0.357142857 ENSG00000167232 chr19:23361807-23361807;G/A missense_variant False ZNF91@p.S978F 1 0.24 ENSG00000167232 chr19:23360046-23360046;G/A missense_variant False ZNF91@p.T927K 1 0.410526316 ENSG00000167232 chr19:23360199-23360199;G/T missense_variant False ZNF92@p.E254Q 1 0.109489051 ENSG00000146757 chr7:65398874-65398874;G/C missense_variant False ZNF92@p.H387Y 1 0.452380952 ENSG00000146757 chr7:65399273-65399273;C/T missense_variant False ZNF93@p.E260K 1 0.315789474 ENSG00000184635 chr19:19933733-19933733;G/A missense_variant False ZNF93@p.E444K 1 0.362318841 ENSG00000184635 chr19:19934285-19934285;G/A missense_variant False ZNF93@p.E562D 1 0.1875 ENSG00000184635 chr19:19934641-19934641;G/C missense_variant False ZNF93@p.G132V 1 0.051724138 ENSG00000184635 chr19:19933350-19933350;G/T missense_variant False ZNF875@p.R624T 1 0.174418605 ENSG00000181666 chr19:37363666-37363666;G/C missense_variant False ZNF862@p.M701T 1 0.214285714 ENSG00000106479 chr7:149861262-149861262;T/C missense_variant False ZNF839@p.P455R 1 0.157894737 ENSG00000022976 chr14:102338868-102338868;C/G missense_variant False ZNF846@p.E447K 1 0.202247191 ENSG00000196605 chr19:9757738-9757738;C/T missense_variant False ZNF84@p.G63del 1 0.235294118 ENSG00000198040 chr12:133048796-133048798;AGG/- inframe_deletion False ZNF84@p.F692L 1 0.507692308 ENSG00000198040 chr12:133058791-133058791;C/G missense_variant False ZNF84@p.E554G 1 0.052631579 ENSG00000198040 chr12:133058376-133058376;A/G missense_variant False ZNF846@p.V255I 1 0.302469136 ENSG00000196605 chr19:9758314-9758314;C/T missense_variant False ZNF846@p.R414S 1 0.402298851 ENSG00000196605 chr19:9757835-9757835;C/A missense_variant False ZNF846@p.G268V 1 0.402597403 ENSG00000196605 chr19:9758274-9758274;C/A missense_variant False ZNF846@p.E426Q 1 0.547368421 ENSG00000196605 chr19:9757801-9757801;C/G missense_variant False ZNF862@p.K83T 1 0.481481481 ENSG00000106479 chr7:149847741-149847741;A/C missense_variant False ZNF846@p.E139K 1 0.365853659 ENSG00000196605 chr19:9758662-9758662;C/T missense_variant False ZNF83@p.S512C 1 0.408450704 ENSG00000167766 chr19:52613030-52613030;G/C missense_variant False ZNF83@p.H419Y 1 0.21641791 ENSG00000167766 chr19:52613310-52613310;G/A missense_variant False ZNF839@p.S164C 1 0.450704225 ENSG00000022976 chr14:102326535-102326535;C/G missense_variant False ZNF839@p.P596S 1 0.227272727 ENSG00000022976 chr14:102341529-102341529;C/T missense_variant False ZNF839@p.P530R 1 0.301369863 ENSG00000022976 chr14:102341332-102341332;C/G missense_variant False ZNF84@p.H701N 1 0.309090909 ENSG00000198040 chr12:133058816-133058816;C/A missense_variant False ZNF84@p.L446V 1 0.079497908 ENSG00000198040 chr12:133058051-133058051;C/G missense_variant False ZNF84@p.M451I 1 0.484076433 ENSG00000198040 chr12:133058068-133058068;G/T missense_variant False ZNF84@p.N630S 1 0.076923077 ENSG00000198040 chr12:133058604-133058604;A/G missense_variant False ZNF84@p.Q582H 1 0.115384615 ENSG00000198040 chr12:133058461-133058461;G/C missense_variant False ZNF84@p.S641Ifs*92 1 0.249042146 ENSG00000198040 chr12:133058633-133058642;TCAAGTCTCA/- frameshift_variant False ZNF84@p.S693F 1 0.134502924 ENSG00000198040 chr12:133058793-133058793;C/T missense_variant False ZNF84@p.T480S 1 0.109090909 ENSG00000198040 chr12:133058154-133058154;C/G missense_variant False ZNF85@p.D572H 1 0.375 ENSG00000105750 chr19:20950228-20950228;G/C missense_variant False ZNF85@p.E123K 1 0.1 ENSG00000105750 chr19:20948881-20948881;G/A missense_variant False ZNF85@p.G226Efs*53 1 0.283783784 ENSG00000105750 chr19:20949189-20949189;G/- frameshift_variant False ZNF85@p.K249E 1 0.472222222 ENSG00000105750 chr19:20949259-20949259;A/G missense_variant False ZNF85@p.S411L 1 0.081632653 ENSG00000105750 chr19:20949746-20949746;C/T missense_variant False ZNF85@p.T533I 1 0.35 ENSG00000105750 chr19:20950112-20950112;C/T missense_variant False ZNF862@p.E880K 1 0.506493506 ENSG00000106479 chr7:149861798-149861798;G/A missense_variant False ZNF862@p.F647L 1 0.28 ENSG00000106479 chr7:149861101-149861101;C/G missense_variant False ZNF862@p.G246V 1 0.7 ENSG00000106479 chr7:149848230-149848230;G/T missense_variant False ZNF816-ZNF321P@p.E119K 1 0.219298246 ENSG00000221874 chr19:52929250-52929250;C/T missense_variant False ZNF813@p.Q394H 1 0.094339623 ENSG00000198346 chr19:53491414-53491414;G/T missense_variant False ZNF813@p.N617D 1 0.184210526 ENSG00000198346 chr19:53492081-53492081;A/G missense_variant False ZNF786@p.G125A 1 0.269230769 ENSG00000197362 chr7:149072398-149072398;C/G missense_variant False ZNF789@p.R221I 1 0.378205128 ENSG00000198556 chr7:99486872-99486872;G/T missense_variant False ZNF787@p.S107L 1 0.892857143 ENSG00000142409 chr19:56088852-56088852;G/A missense_variant False ZNF787@p.G118A 1 0.391304348 ENSG00000142409 chr19:56088819-56088819;C/G missense_variant False ZNF786@p.V85A 1 0.192307692 ENSG00000197362 chr7:149074430-149074430;A/G missense_variant False ZNF786@p.R576T 1 0.222222222 ENSG00000197362 chr7:149071045-149071045;C/G missense_variant False ZNF786@p.R250H 1 0.25 ENSG00000197362 chr7:149072023-149072023;C/T missense_variant False ZNF786@p.F462L 1 0.46875 ENSG00000197362 chr7:149071386-149071386;G/T missense_variant False ZNF784@p.E79K 1 0.5 ENSG00000179922 chr19:55622488-55622488;C/T missense_variant False ZNF785@p.V375M 1 0.202702703 ENSG00000197162 chr16:30582655-30582655;C/T missense_variant False ZNF785@p.S113C 1 0.14516129 ENSG00000197162 chr16:30583440-30583440;G/C missense_variant False ZNF785@p.P390S 1 0.293103448 ENSG00000197162 chr16:30582610-30582610;G/A missense_variant False ZNF785@p.K262N 1 0.285714286 ENSG00000197162 chr16:30582992-30582992;C/A missense_variant False ZNF785@p.E84K 1 0.482758621 ENSG00000197162 chr16:30585206-30585206;C/T missense_variant False ZNF785@p.E367K 1 0.159663866 ENSG00000197162 chr16:30582679-30582679;C/T missense_variant False ZNF790@p.E227Q 1 0.345238095 ENSG00000197863 chr19:36819665-36819665;C/G missense_variant False ZNF790@p.H360R 1 0.172043011 ENSG00000197863 chr19:36819265-36819265;T/C missense_variant False ZNF790@p.H500Y 1 0.588709677 ENSG00000197863 chr19:36818846-36818846;G/A missense_variant False ZNF790@p.K233Sfs*121 1 0.243478261 ENSG00000197863 chr19:36819648-36819648;C/- frameshift_variant False ZNF790@p.T592I 1 0.160839161 ENSG00000197863 chr19:36818569-36818569;G/A missense_variant False ZNF791@p.A81V 1 0.176870748 ENSG00000173875 chr19:12627771-12627771;C/T missense_variant False ZNF791@p.E553K 1 0.208333333 ENSG00000173875 chr19:12629186-12629186;G/A missense_variant False ZNF791@p.E82Q 1 0.229508197 ENSG00000173875 chr19:12627773-12627773;G/C missense_variant False ZNF791@p.Q316E 1 0.164383562 ENSG00000173875 chr19:12628475-12628475;C/G missense_variant False ZNF792@p.D79N 1 0.177777778 ENSG00000180884 chr19:34960283-34960283;C/T missense_variant False ZNF792@p.E170K 1 0.413897281 ENSG00000180884 chr19:34959347-34959347;C/T missense_variant False ZNF792@p.H500Y 1 0.402985075 ENSG00000180884 chr19:34958357-34958357;G/A missense_variant False ZNF792@p.I21V 1 0.427835052 ENSG00000180884 chr19:34960967-34960967;T/C missense_variant False ZNF793@p.E115K 1 0.162162162 ENSG00000188227 chr19:37537001-37537001;G/A missense_variant False ZNF793@p.P226R 1 0.2 ENSG00000188227 chr19:37537335-37537335;C/G missense_variant False ZNF793@p.Q134H 1 0.277777778 ENSG00000188227 chr19:37537060-37537060;G/C missense_variant False ZNF793@p.Q386E 1 0.230769231 ENSG00000188227 chr19:37537814-37537814;C/G missense_variant False ZNF784@p.P35L 1 0.363636364 ENSG00000179922 chr19:55622619-55622619;G/A missense_variant False ZNF784@p.D99H 1 0.214285714 ENSG00000179922 chr19:55622428-55622428;C/G missense_variant False ZNF799@p.E473Q 1 0.326797386 ENSG00000196466 chr19:12390981-12390981;C/G missense_variant False ZNF780A@p.E451K 1 0.207627119 ENSG00000197782 chr19:40075091-40075091;C/T missense_variant False ZNF780B@p.E362Q 1 0.051282051 ENSG00000128000 chr19:40035775-40035775;C/G missense_variant False ZNF780A@p.S122L 1 0.25 ENSG00000197782 chr19:40076077-40076077;G/A missense_variant False ZNF780A@p.R539C 1 0.207317073 ENSG00000197782 chr19:40074827-40074827;G/A missense_variant False ZNF780A@p.Q459R 1 0.385026738 ENSG00000197782 chr19:40075066-40075066;T/C missense_variant False ZNF780A@p.L180F 1 0.457627119 ENSG00000197782 chr19:40075904-40075904;G/A missense_variant False ZNF780A@p.G637S 1 0.393258427 ENSG00000197782 chr19:40074533-40074533;C/T missense_variant False ZNF780A@p.E114Q 1 0.042402827 ENSG00000197782 chr19:40076102-40076102;C/G missense_variant False ZNF784@p.D31N 1 0.269230769 ENSG00000179922 chr19:55622632-55622632;C/T missense_variant False ZNF77@p.S42C 1 0.214285714 ENSG00000175691 chr19:2939286-2939286;G/C missense_variant False ZNF778@p.Q721E 1 0.155844156 ENSG00000170100 chr16:89228533-89228533;C/G missense_variant False ZNF778@p.G445A 1 0.440944882 ENSG00000170100 chr16:89227706-89227706;G/C missense_variant False ZNF778@p.E590K 1 0.25 ENSG00000170100 chr16:89228140-89228140;G/A missense_variant False ZNF778@p.D45H 1 0.24137931 ENSG00000170100 chr16:89223172-89223172;G/C missense_variant False ZNF777@p.S380L 1 0.29787234 ENSG00000196453 chr7:149436775-149436775;G/A missense_variant False ZNF780B@p.H154Y 1 0.103448276 ENSG00000128000 chr19:40036399-40036399;G/A missense_variant False ZNF780B@p.H709Y 1 0.0875 ENSG00000128000 chr19:40034734-40034734;G/A missense_variant False ZNF780B@p.Q604H 1 0.175 ENSG00000128000 chr19:40035047-40035047;C/G missense_variant False ZNF780B@p.S122L 1 0.444444444 ENSG00000128000 chr19:40036494-40036494;G/A missense_variant False ZNF781@p.A12S 1 0.090909091 ENSG00000290988 chr19:37670115-37670115;C/A missense_variant False ZNF781@p.G58W 1 0.6 ENSG00000290988 chr19:37669977-37669977;C/A missense_variant False ZNF781@p.N258K 1 0.079207921 ENSG00000290988 chr19:37669375-37669375;A/T missense_variant False ZNF781@p.Q22E 1 0.125 ENSG00000290988 chr19:37670085-37670085;G/C missense_variant False ZNF781@p.R3T 1 0.233870968 ENSG00000290988 chr19:37670141-37670141;C/G missense_variant False ZNF781@p.R53Q 1 0.458646617 ENSG00000290988 chr19:37669991-37669991;C/T missense_variant False ZNF781@p.S322L 1 0.339901478 ENSG00000290988 chr19:37669184-37669184;G/A missense_variant False ZNF781@p.T155R 1 0.10738255 ENSG00000290988 chr19:37669685-37669685;G/C missense_variant False ZNF782@p.E475D 1 0.14379085 ENSG00000196597 chr9:96818598-96818598;C/G missense_variant False ZNF782@p.F571L 1 0.154150198 ENSG00000196597 chr9:96818310-96818310;G/C missense_variant False ZNF782@p.Q685E 1 0.11299435 ENSG00000196597 chr9:96817970-96817970;G/C missense_variant False ZNF782@p.R132T 1 0.596153846 ENSG00000196597 chr9:96819628-96819628;C/G missense_variant False ZNF782@p.S486C 1 0.120192308 ENSG00000196597 chr9:96818566-96818566;G/C missense_variant False ZNF793@p.R342T 1 0.051282051 ENSG00000188227 chr19:37537683-37537683;G/C missense_variant False ZNF799@p.G165A 1 0.056603774 ENSG00000196466 chr19:12391904-12391904;C/G missense_variant False ZNF813@p.M210I 1 0.14953271 ENSG00000198346 chr19:53490862-53490862;G/A missense_variant False ZNF804B@p.K350N 1 0.5 ENSG00000182348 chr7:89334032-89334032;G/T missense_variant False ZNF804B@p.S868T 1 0.245901639 ENSG00000182348 chr7:89335585-89335585;G/C missense_variant False ZNF804B@p.S164I 1 0.426666667 ENSG00000182348 chr7:89333473-89333473;G/T missense_variant False ZNF804B@p.S1249W 1 0.065656566 ENSG00000182348 chr7:89336728-89336728;C/G missense_variant False ZNF804B@p.S1193L 1 0.272727273 ENSG00000182348 chr7:89336560-89336560;C/T missense_variant False ZNF804B@p.Q1060Hfs*9 1 0.206185567 ENSG00000182348 chr7:89336156-89336157;-/ATCC frameshift_variant False ZNF804B@p.P1253A 1 0.529411765 ENSG00000182348 chr7:89336739-89336739;C/G missense_variant False ZNF804B@p.H359Y 1 0.133333333 ENSG00000182348 chr7:89334057-89334057;C/T missense_variant False ZNF804A@p.V372M 1 0.396551724 ENSG00000170396 chr2:184936510-184936510;G/A missense_variant False ZNF804B@p.F1062C 1 0.3125 ENSG00000182348 chr7:89336167-89336167;T/G missense_variant False ZNF804B@p.E1090Q 1 0.246376812 ENSG00000182348 chr7:89336250-89336250;G/C missense_variant False ZNF804B@p.D415H 1 0.085714286 ENSG00000182348 chr7:89334225-89334225;G/C missense_variant False ZNF804B@p.A1241V 1 0.244186047 ENSG00000182348 chr7:89336704-89336704;C/T missense_variant False ZNF804A@p.V803G 1 0.045454545 ENSG00000170396 chr2:184937804-184937804;T/G missense_variant False ZNF804A@p.V754I 1 0.46875 ENSG00000170396 chr2:184937656-184937656;G/A missense_variant False ZNF804B@p.V1198F 1 0.097560976 ENSG00000182348 chr7:89336574-89336574;G/T missense_variant False ZNF804B@p.V932I 1 0.257575758 ENSG00000182348 chr7:89335776-89335776;G/A missense_variant False ZNF808@p.E107K 1 0.088 ENSG00000198482 chr19:52553235-52553235;G/A missense_variant False ZNF808@p.E377K 1 0.081081081 ENSG00000198482 chr19:52554045-52554045;G/A missense_variant False ZNF808@p.H365N 1 0.340740741 ENSG00000198482 chr19:52554009-52554009;C/A missense_variant False ZNF808@p.K288N 1 0.296052632 ENSG00000198482 chr19:52553780-52553780;G/T missense_variant False ZNF808@p.K288R 1 0.307189542 ENSG00000198482 chr19:52553779-52553779;A/G missense_variant False ZNF808@p.N551D 1 0.118110236 ENSG00000198482 chr19:52554567-52554567;A/G missense_variant False ZNF808@p.Q438E 1 0.171875 ENSG00000198482 chr19:52554228-52554228;C/G missense_variant False ZNF808@p.Q746H 1 0.173410405 ENSG00000198482 chr19:52555154-52555154;G/C missense_variant False ZNF808@p.R363T 1 0.052238806 ENSG00000198482 chr19:52554004-52554004;G/C missense_variant False ZNF808@p.R495W 1 0.606299213 ENSG00000198482 chr19:52554399-52554399;A/T missense_variant False ZNF808@p.R82T 1 0.118421053 ENSG00000198482 chr19:52553161-52553161;G/C missense_variant False ZNF813@p.E16K 1 0.176666667 ENSG00000198346 chr19:53486662-53486662;G/A missense_variant False ZNF813@p.E219K 1 0.330508475 ENSG00000198346 chr19:53490887-53490887;G/A missense_variant False ZNF813@p.E268D 1 0.188888889 ENSG00000198346 chr19:53491036-53491036;G/C missense_variant False ZNF813@p.H541Q 1 0.116666667 ENSG00000198346 chr19:53491855-53491855;T/A missense_variant False ZNF804A@p.V426L 1 0.146551724 ENSG00000170396 chr2:184936672-184936672;G/T missense_variant False ZNF804A@p.T683I 1 0.975609756 ENSG00000170396 chr2:184937444-184937444;C/T missense_variant False ZNF799@p.G182E 1 0.6 ENSG00000196466 chr19:12391853-12391853;C/T missense_variant False ZNF800@p.D115N 1 0.421052632 ENSG00000048405 chr7:127374993-127374993;C/T missense_variant False ZNF800@p.E608K 1 0.25 ENSG00000048405 chr7:127373514-127373514;C/T missense_variant False ZNF800@p.E265K 1 0.19047619 ENSG00000048405 chr7:127374543-127374543;C/T missense_variant False ZNF800@p.E19K 1 0.318181818 ENSG00000048405 chr7:127391503-127391503;C/T missense_variant False ZNF800@p.E197Q 1 0.237288136 ENSG00000048405 chr7:127374747-127374747;C/G missense_variant False ZNF800@p.E192K 1 0.147540984 ENSG00000048405 chr7:127374762-127374762;C/T missense_variant False ZNF800@p.E128D 1 0.549019608 ENSG00000048405 chr7:127374952-127374952;T/G missense_variant False ZNF800@p.A626V 1 0.588235294 ENSG00000048405 chr7:127373459-127373459;G/A missense_variant False ZNF804A@p.T679I 1 0.25 ENSG00000170396 chr2:184937432-184937432;C/T missense_variant False ZNF7@p.R601T 1 0.044025157 ENSG00000147789 chr8:144842909-144842909;G/C missense_variant False ZNF7@p.R517K 1 0.116666667 ENSG00000147789 chr8:144842657-144842657;G/A missense_variant False ZNF7@p.L184V 1 0.141414141 ENSG00000147789 chr8:144841657-144841657;C/G missense_variant False ZNF7@p.E438D 1 0.553846154 ENSG00000147789 chr8:144842421-144842421;G/C missense_variant False ZNF799@p.Q79E 1 0.210526316 ENSG00000196466 chr19:12392163-12392163;G/C missense_variant False ZNF799@p.L321V 1 0.264423077 ENSG00000196466 chr19:12391437-12391437;G/C missense_variant False ZNF800@p.F239L 1 0.262135922 ENSG00000048405 chr7:127374619-127374619;G/T missense_variant False ZNF800@p.R536L 1 0.326315789 ENSG00000048405 chr7:127373729-127373729;C/A missense_variant False ZNF800@p.S336F 1 0.375 ENSG00000048405 chr7:127374329-127374329;G/A missense_variant False ZNF800@p.S422C 1 0.412121212 ENSG00000048405 chr7:127374071-127374071;G/C missense_variant False ZNF804A@p.A1113T 1 0.254545455 ENSG00000170396 chr2:184938733-184938733;G/A missense_variant False ZNF804A@p.A928T 1 0.373493976 ENSG00000170396 chr2:184938178-184938178;G/A missense_variant False ZNF804A@p.E107K 1 0.083333333 ENSG00000170396 chr2:184933666-184933666;G/A missense_variant False ZNF804A@p.E41K 1 0.523809524 ENSG00000170396 chr2:184866378-184866378;G/A missense_variant False ZNF804A@p.E584Q 1 0.29787234 ENSG00000170396 chr2:184937146-184937146;G/C missense_variant False ZNF804A@p.E851K 1 0.244444444 ENSG00000170396 chr2:184937947-184937947;G/A missense_variant False ZNF804A@p.E861K 1 0.542857143 ENSG00000170396 chr2:184937977-184937977;G/A missense_variant False ZNF804A@p.E990K 1 0.12173913 ENSG00000170396 chr2:184938364-184938364;G/A missense_variant False ZNF804A@p.K592E 1 0.463157895 ENSG00000170396 chr2:184937170-184937170;A/G missense_variant False ZNF804A@p.L1177V 1 0.20754717 ENSG00000170396 chr2:184938925-184938925;C/G missense_variant False ZNF804A@p.P281L 1 0.325 ENSG00000170396 chr2:184936238-184936238;C/T missense_variant False ZNF804A@p.R433T 1 0.134020619 ENSG00000170396 chr2:184936694-184936694;G/C missense_variant False ZNF804A@p.S964P 1 0.282608696 ENSG00000170396 chr2:184938286-184938286;T/C missense_variant False ZNF93@p.K220N 1 0.279069767 ENSG00000184635 chr19:19933615-19933615;G/C missense_variant False ZNF93@p.K332N 1 0.229508197 ENSG00000184635 chr19:19933951-19933951;G/C missense_variant False ZNF777@p.M204I 1 0.202797203 ENSG00000196453 chr7:149455411-149455411;C/T missense_variant False ZSWIM2@p.S20G 1 0.204819277 ENSG00000163012 chr2:186849073-186849073;T/C missense_variant False ZSWIM4@p.A902T 1 0.075 ENSG00000132003 chr19:13830784-13830784;G/A missense_variant False ZSWIM4@p.A660V 1 0.557377049 ENSG00000132003 chr19:13825664-13825664;C/T missense_variant False ZSWIM3@p.T497S 1 0.1875 ENSG00000132801 chr20:45878048-45878048;C/G missense_variant False ZSWIM3@p.D104N 1 0.232876712 ENSG00000132801 chr20:45876868-45876868;G/A missense_variant False ZSWIM3@p.A334T 1 0.208333333 ENSG00000132801 chr20:45877558-45877558;G/A missense_variant False ZSWIM2@p.W583C 1 0.161290323 ENSG00000163012 chr2:186828137-186828137;C/G missense_variant False ZSWIM2@p.R35P 1 0.277777778 ENSG00000163012 chr2:186849027-186849027;C/G missense_variant False ZSWIM4@p.E431Q 1 0.12605042 ENSG00000132003 chr19:13817326-13817326;G/C missense_variant False ZSWIM2@p.P442S 1 0.224719101 ENSG00000163012 chr2:186828562-186828562;G/A missense_variant False ZSWIM2@p.L328I 1 0.396551724 ENSG00000163012 chr2:186829840-186829840;G/T missense_variant False ZSWIM2@p.K568N 1 0.255813953 ENSG00000163012 chr2:186828182-186828182;C/G missense_variant False ZSWIM2@p.K520N 1 0.193548387 ENSG00000163012 chr2:186828326-186828326;C/G missense_variant False ZSWIM1@p.W139L 1 0.247524752 ENSG00000168612 chr20:45883008-45883008;G/T missense_variant False ZSWIM1@p.T447N 1 0.06043956 ENSG00000168612 chr20:45883932-45883932;C/A missense_variant False ZSWIM4@p.D95H 1 0.134146341 ENSG00000132003 chr19:13799849-13799849;G/C missense_variant False ZSWIM4@p.H584Y 1 0.322580645 ENSG00000132003 chr19:13823386-13823386;C/T missense_variant False ZNF93@p.R333T 1 0.744186047 ENSG00000184635 chr19:19933953-19933953;G/C missense_variant False ZSWIM5@p.E727Q 1 0.164705882 ENSG00000162415 chr1:45035800-45035800;C/G missense_variant False ZSWIM7@p.I57M 1 0.333333333 ENSG00000214941 chr17:15987296-15987296;G/C missense_variant False ZSWIM5@p.V1042L 1 0.205128205 ENSG00000162415 chr1:45018888-45018888;C/A missense_variant False ZSWIM5@p.T289K 1 0.316176471 ENSG00000162415 chr1:45087967-45087967;G/T missense_variant False ZSWIM5@p.M1024I 1 0.109090909 ENSG00000162415 chr1:45018940-45018940;C/G missense_variant False ZSWIM5@p.G1136E 1 0.442105263 ENSG00000162415 chr1:45018605-45018605;C/T missense_variant False ZSWIM5@p.F86L 1 0.307692308 ENSG00000162415 chr1:45206093-45206093;G/T missense_variant False ZSWIM5@p.E331Q 1 0.11627907 ENSG00000162415 chr1:45060209-45060209;C/G missense_variant False ZSWIM4@p.I601M 1 0.5 ENSG00000132003 chr19:13823439-13823439;C/G missense_variant False ZSWIM5@p.E214K 1 0.201923077 ENSG00000162415 chr1:45088193-45088193;C/T missense_variant False ZSWIM5@p.D330N 1 0.288888889 ENSG00000162415 chr1:45060212-45060212;C/T missense_variant False ZSWIM4@p.T101I 1 0.103448276 ENSG00000132003 chr19:13799868-13799868;C/T missense_variant False ZSWIM4@p.Q360L 1 0.142857143 ENSG00000132003 chr19:13813063-13813063;A/T missense_variant False ZSWIM4@p.L983Wfs*31 1 0.155172414 ENSG00000132003 chr19:13831025-13831025;T/- frameshift_variant False ZSWIM4@p.L305F 1 0.070921986 ENSG00000132003 chr19:13809121-13809121;C/T missense_variant False ZSWIM1@p.P153L 1 0.491525424 ENSG00000168612 chr20:45883050-45883050;C/T missense_variant False ZSWIM1@p.P153A 1 0.295454545 ENSG00000168612 chr20:45883049-45883049;C/G missense_variant False ZSWIM1@p.E435K 1 0.382352941 ENSG00000168612 chr20:45883895-45883895;G/A missense_variant False ZSCAN25@p.R423C 1 0.225 ENSG00000197037 chr7:99629652-99629652;C/T missense_variant False ZSCAN2@p.E387Q 1 0.075268817 ENSG00000176371 chr15:84621354-84621354;G/C missense_variant False ZSCAN29@p.R33W 1 0.355263158 ENSG00000140265 chr15:43369817-43369817;G/A missense_variant False ZSCAN29@p.E55Q 1 0.384615385 ENSG00000140265 chr15:43369751-43369751;C/G missense_variant False ZSCAN29@p.E115K 1 0.134328358 ENSG00000140265 chr15:43369103-43369103;C/T missense_variant False ZSCAN26@p.Q385E 1 0.142857143 ENSG00000197062 chr6:28276812-28276812;C/G missense_variant False ZSCAN25@p.R450L 1 0.551724138 ENSG00000197037 chr7:99629734-99629734;G/T missense_variant False ZSCAN25@p.H5Y 1 0.522727273 ENSG00000197037 chr7:99619619-99619619;C/T missense_variant False ZSWIM1@p.E345K 1 0.252252252 ENSG00000168612 chr20:45883625-45883625;G/A missense_variant False ZSCAN25@p.G315R 1 0.132352941 ENSG00000197037 chr7:99629328-99629328;G/C missense_variant False ZSCAN25@p.E337K 1 0.28 ENSG00000197037 chr7:99629394-99629394;G/A missense_variant False ZSCAN25@p.E216Q 1 0.25 ENSG00000197037 chr7:99622605-99622605;G/C missense_variant False ZSCAN22@p.S299N 1 0.146938776 ENSG00000182318 chr19:58338746-58338746;G/A missense_variant False ZSCAN22@p.Q76E 1 0.067039106 ENSG00000182318 chr19:58335028-58335028;C/G missense_variant False ZSCAN22@p.G376W 1 0.180327869 ENSG00000182318 chr19:58338976-58338976;G/T missense_variant False ZSCAN2@p.P473S 1 0.209302326 ENSG00000176371 chr15:84621612-84621612;C/T missense_variant False ZSCAN30@p.H463R 1 0.447761194 ENSG00000186814 chr18:35253547-35253547;T/C missense_variant False ZSCAN30@p.R349K 1 0.192513369 ENSG00000186814 chr18:35253889-35253889;C/T missense_variant False ZSCAN31@p.P129S 1 0.255319149 ENSG00000235109 chr6:28327530-28327530;G/A missense_variant False ZSCAN4@p.E231K 1 0.21875 ENSG00000180532 chr19:57678294-57678294;G/A missense_variant False ZSCAN4@p.L5I 1 0.135135135 ENSG00000180532 chr19:57676158-57676158;C/A missense_variant False ZSCAN4@p.Q407L 1 0.6875 ENSG00000180532 chr19:57678823-57678823;A/T missense_variant False ZSCAN5A@p.D444E 1 0.325 ENSG00000131848 chr19:56221734-56221734;G/T missense_variant False ZSCAN5A@p.D85N 1 0.294117647 ENSG00000131848 chr19:56224794-56224794;C/T missense_variant False ZSCAN5A@p.L483S 1 0.439393939 ENSG00000131848 chr19:56221618-56221618;A/G missense_variant False ZSCAN5A@p.R288K 1 0.327433628 ENSG00000131848 chr19:56222203-56222203;C/T missense_variant False ZSCAN5B@p.I329M 1 0.236514523 ENSG00000197213 chr19:56190328-56190328;G/C missense_variant False ZSCAN5B@p.R459H 1 0.519230769 ENSG00000197213 chr19:56189939-56189939;C/T missense_variant False ZSCAN9@p.D197N 1 0.074468085 ENSG00000137185 chr6:28232582-28232582;G/A missense_variant False ZSCAN9@p.E219Q 1 0.12745098 ENSG00000137185 chr6:28232648-28232648;G/C missense_variant False ZSCAN9@p.R72G 1 0.378787879 ENSG00000137185 chr6:28227298-28227298;C/G missense_variant False ZSCAN9@p.S185F 1 0.315789474 ENSG00000137185 chr6:28227823-28227823;C/T missense_variant False ZSWIM8@p.E1593Q 1 0.114285714 ENSG00000214655 chr10:73800137-73800137;G/C missense_variant False ZSWIM8@p.E1605Q 1 0.30952381 ENSG00000214655 chr10:73800173-73800173;G/C missense_variant False ZSWIM8@p.E1676D 1 0.254237288 ENSG00000214655 chr10:73800656-73800656;G/C missense_variant False ZZEF1@p.E1824K 1 0.558823529 ENSG00000074755 chr17:4052101-4052101;C/T missense_variant False ZZEF1@p.N2710S 1 0.438095238 ENSG00000074755 chr17:4016339-4016339;T/C missense_variant False ZZEF1@p.M924I 1 0.43697479 ENSG00000074755 chr17:4081433-4081433;C/T missense_variant False ZZEF1@p.L402V 1 0.5 ENSG00000074755 chr17:4109726-4109726;G/C missense_variant False ZZEF1@p.H2366Y 1 0.181818182 ENSG00000074755 chr17:4022825-4022825;G/A missense_variant False ZZEF1@p.E2629K 1 0.35483871 ENSG00000074755 chr17:4017487-4017487;C/T missense_variant False ZZEF1@p.E2061Q 1 0.252873563 ENSG00000074755 chr17:4042554-4042554;C/G missense_variant False ZZEF1@p.D333H 1 0.090909091 ENSG00000074755 chr17:4112678-4112678;C/G missense_variant False ZYG11B@p.R257P 1 0.215384615 ENSG00000162378 chr1:52771593-52771593;G/C missense_variant False ZZEF1@p.D2605H 1 0.435897436 ENSG00000074755 chr17:4017559-4017559;C/G missense_variant False ZZEF1@p.D2220N 1 0.181818182 ENSG00000074755 chr17:4032929-4032929;C/T missense_variant False ZZEF1@p.D1784N 1 0.161616162 ENSG00000074755 chr17:4054141-4054141;C/T missense_variant False ZYX@p.S13L 1 0.418604651 ENSG00000159840 chr7:143381609-143381609;C/T missense_variant False ZYX@p.Q403E 1 0.243478261 ENSG00000159840 chr7:143388551-143388551;C/G missense_variant False ZYX@p.Q376H 1 0.352941176 ENSG00000159840 chr7:143388323-143388323;G/C missense_variant False ZZEF1@p.P1978L 1 0.5 ENSG00000074755 chr17:4049790-4049790;G/A missense_variant False ZZEF1@p.Q2582L 1 0.217391304 ENSG00000074755 chr17:4017627-4017627;T/A missense_variant False ZZEF1@p.R1347H 1 0.295081967 ENSG00000074755 chr17:4070719-4070719;C/T missense_variant False ZZEF1@p.R1883W 1 0.315789474 ENSG00000074755 chr17:4050997-4050997;G/A missense_variant False ZZEF1@p.R2008T 1 0.147058824 ENSG00000074755 chr17:4044367-4044367;C/G missense_variant False ZZEF1@p.R77C 1 0.384615385 ENSG00000074755 chr17:4142667-4142667;G/A missense_variant False ZZEF1@p.S196F 1 0.076923077 ENSG00000074755 chr17:4117079-4117079;G/A missense_variant False ZZEF1@p.S275C 1 0.279411765 ENSG00000074755 chr17:4114341-4114341;G/C missense_variant False ZZEF1@p.T736I 1 0.15625 ENSG00000074755 chr17:4088712-4088712;G/A missense_variant False ZZEF1@p.T935S 1 0.292134831 ENSG00000074755 chr17:4081401-4081401;G/C missense_variant False ZZZ3@p.D217A 1 0.427272727 ENSG00000036549 chr1:77632705-77632705;T/G missense_variant False ZZZ3@p.E315K 1 0.095588235 ENSG00000036549 chr1:77632412-77632412;C/T missense_variant False ZZZ3@p.E791Q 1 0.37037037 ENSG00000036549 chr1:77568427-77568427;C/G missense_variant False ZZZ3@p.G350R 1 0.32967033 ENSG00000036549 chr1:77632307-77632307;C/T missense_variant False ZZZ3@p.I784M 1 0.5 ENSG00000036549 chr1:77568446-77568446;G/C missense_variant False ZZZ3@p.Q475E 1 0.289256198 ENSG00000036549 chr1:77631932-77631932;G/C missense_variant False ZZZ3@p.R835W 1 0.428571429 ENSG00000036549 chr1:77566145-77566145;G/A missense_variant False ZYG11B@p.R436Q 1 0.436090226 ENSG00000162378 chr1:52790040-52790040;G/A missense_variant False ZYG11B@p.I93M 1 0.410447761 ENSG00000162378 chr1:52771102-52771102;C/G missense_variant False ZSWIM8@p.E884Q 1 0.431034483 ENSG00000214655 chr10:73794171-73794171;G/C missense_variant False ZUP1@p.E125A 1 0.469387755 ENSG00000153975 chr6:116666819-116666819;T/G missense_variant False ZWILCH@p.D381H 1 0.604166667 ENSG00000174442 chr15:66529559-66529559;G/C missense_variant False ZWILCH@p.D319Rfs*3 1 0.333333333 ENSG00000174442 chr15:66527890-66527891;-/A frameshift_variant False ZWILCH@p.A349Cfs*2 1 0.133333333 ENSG00000174442 chr15:66528922-66528923;-/T frameshift_variant False ZW10@p.V299I 1 0.386554622 ENSG00000086827 chr11:113757692-113757692;C/T missense_variant False ZW10@p.S753F 1 0.186440678 ENSG00000086827 chr11:113733776-113733776;G/A missense_variant False ZUP1@p.Y151C 1 0.141732283 ENSG00000153975 chr6:116666741-116666741;T/C missense_variant False ZSWIM8@p.T1077N 1 0.24137931 ENSG00000214655 chr10:73796985-73796985;C/A missense_variant False ZYG11B@p.H729Y 1 0.317073171 ENSG00000162378 chr1:52821579-52821579;C/T missense_variant False ZSWIM8@p.S1030F 1 0.161290323 ENSG00000214655 chr10:73796844-73796844;C/T missense_variant False ZSWIM8@p.R67K 1 0.285714286 ENSG00000214655 chr10:73786078-73786078;G/A missense_variant False ZSWIM8@p.R1114H 1 0.418604651 ENSG00000214655 chr10:73797194-73797194;G/A missense_variant False ZSWIM8@p.P1098S 1 0.558823529 ENSG00000214655 chr10:73797145-73797145;C/T missense_variant False ZSWIM8@p.H1591Qfs*22 1 0.222222222 ENSG00000214655 chr10:73800133-73800133;C/- frameshift_variant False ZSWIM8@p.G1610E 1 0.132075472 ENSG00000214655 chr10:73800189-73800189;G/A missense_variant False ZWILCH@p.S490Y 1 0.592592593 ENSG00000174442 chr15:66536060-66536060;C/A missense_variant False ZWINT@p.D237E 1 0.413043478 ENSG00000122952 chr10:56358637-56358637;A/T missense_variant False ZWINT@p.T72A 1 0.428571429 ENSG00000122952 chr10:56360060-56360060;T/C missense_variant False ZXDB@p.D481N 1 0.418439716 ENSG00000198455 chrX:57593489-57593489;G/A missense_variant False ZXDB@p.M355I 1 0.261904762 ENSG00000198455 chrX:57593113-57593113;G/A missense_variant False ZXDB@p.P211L 1 0.12 ENSG00000198455 chrX:57592680-57592680;C/T missense_variant False ZXDB@p.R332W 1 0.142857143 ENSG00000198455 chrX:57593042-57593042;C/T missense_variant False ZXDB@p.S526Y 1 0.148514851 ENSG00000198455 chrX:57593625-57593625;C/A missense_variant False ZXDC@p.A86T 1 0.25 ENSG00000070476 chr3:126475610-126475610;C/T missense_variant False ZXDC@p.C458S 1 0.350649351 ENSG00000070476 chr3:126466223-126466223;C/G missense_variant False ZXDC@p.E305D 1 0.32231405 ENSG00000070476 chr3:126472298-126472298;C/G missense_variant False ZXDC@p.F268L 1 0.222222222 ENSG00000070476 chr3:126475062-126475062;G/C missense_variant False ZXDC@p.S835L 1 0.108695652 ENSG00000070476 chr3:126438448-126438448;G/A missense_variant False ZXDC@p.Y339C 1 0.289855072 ENSG00000070476 chr3:126472197-126472197;T/C missense_variant False ZYG11B@p.D461Y 1 0.5 ENSG00000162378 chr1:52796338-52796338;G/T missense_variant False ZYG11B@p.E597K 1 0.156626506 ENSG00000162378 chr1:52813629-52813629;G/A missense_variant False ZYG11B@p.E692D 1 0.0625 ENSG00000162378 chr1:52821470-52821470;A/C missense_variant False ZSCAN22@p.E46K 1 0.127659574 ENSG00000182318 chr19:58334938-58334938;G/A missense_variant False ZSCAN22@p.E24K 1 0.076923077 ENSG00000182318 chr19:58334872-58334872;G/A missense_variant False ZSCAN22@p.E15Q 1 0.488888889 ENSG00000182318 chr19:58334845-58334845;G/C missense_variant False ZNHIT2@p.E289Q 1 0.282608696 ENSG00000174276 chr11:65116789-65116789;C/G missense_variant False ZNHIT3@p.S88F 1 0.357142857 ENSG00000273611 chr17:36493983-36493983;C/T missense_variant False ZNHIT3@p.R26P 1 0.207317073 ENSG00000273611 chr17:36486776-36486776;G/C missense_variant False ZNHIT3@p.D72Y 1 0.12 ENSG00000273611 chr17:36493934-36493934;G/T missense_variant False ZNHIT3@p.D141N 1 0.136363636 ENSG00000273611 chr17:36495357-36495357;G/A missense_variant False ZNHIT2@p.P125A 1 0.142857143 ENSG00000174276 chr11:65117281-65117281;G/C missense_variant False ZNHIT2@p.G182E 1 0.25 ENSG00000174276 chr11:65117109-65117109;C/T missense_variant False ZNHIT2@p.E289K 1 0.078125 ENSG00000174276 chr11:65116789-65116789;C/T missense_variant False ZNFX1@p.S262C 1 0.201492537 ENSG00000124201 chr20:49271027-49271027;G/C missense_variant False ZNHIT2@p.D360N 1 0.17721519 ENSG00000174276 chr11:65116576-65116576;C/T missense_variant False ZNHIT1@p.R79C 1 0.048275862 ENSG00000106400 chr7:101223518-101223518;C/T missense_variant False ZNHIT1@p.K68N 1 0.505882353 ENSG00000106400 chr7:101223487-101223487;G/T missense_variant False ZNHIT1@p.F40L 1 0.180851064 ENSG00000106400 chr7:101222701-101222701;C/G missense_variant False ZNFX1@p.V381I 1 0.126903553 ENSG00000124201 chr20:49270671-49270671;C/T missense_variant False ZNFX1@p.T434I 1 0.650793651 ENSG00000124201 chr20:49270511-49270511;G/A missense_variant False ZNHIT6@p.D367N 1 0.377358491 ENSG00000117174 chr1:85678771-85678771;C/T missense_variant False ZNHIT6@p.E110K 1 0.382352941 ENSG00000117174 chr1:85707957-85707957;C/T missense_variant False ZNHIT6@p.E221Q 1 0.365482234 ENSG00000117174 chr1:85706503-85706503;C/G missense_variant False ZNHIT6@p.I407Mfs*8 1 0.274193548 ENSG00000117174 chr1:85677262-85677262;A/- frameshift_variant False ZNHIT6@p.K166R 1 0.113846154 ENSG00000117174 chr1:85707788-85707788;T/C missense_variant False ZNRD2@p.D81H 1 0.102941176 ENSG00000173465 chr11:65570955-65570955;G/C missense_variant False ZNRD2@p.I68M 1 0.111111111 ENSG00000173465 chr11:65570918-65570918;C/G missense_variant False ZNRF3@p.D545N 1 0.3125 ENSG00000183579 chr22:29049814-29049814;G/A missense_variant False ZNRF3@p.Q359E 1 0.226744186 ENSG00000183579 chr22:29049256-29049256;C/G missense_variant False ZNRF3@p.R265K 1 0.266331658 ENSG00000183579 chr22:29046765-29046765;G/A missense_variant False ZNRF3@p.S683L 1 0.5 ENSG00000183579 chr22:29050229-29050229;C/T missense_variant False ZNRF4@p.D360N 1 0.224137931 ENSG00000105428 chr19:5456569-5456569;G/A missense_variant False ZNRF4@p.R101Q 1 0.228070175 ENSG00000105428 chr19:5455793-5455793;G/A missense_variant False ZNRF4@p.S231L 1 0.103773585 ENSG00000105428 chr19:5456183-5456183;C/T missense_variant False ZNRF4@p.S61R 1 0.283333333 ENSG00000105428 chr19:5455674-5455674;C/A missense_variant False ZP1@p.Q256Sfs*8 1 0.346153846 ENSG00000149506 chr11:60870413-60870414;-/T frameshift_variant False ZP1@p.T416N 1 0.24 ENSG00000149506 chr11:60873381-60873381;C/A missense_variant False ZNFX1@p.S276F 1 0.133333333 ENSG00000124201 chr20:49270985-49270985;G/A missense_variant False ZNFX1@p.S1275F 1 0.28440367 ENSG00000124201 chr20:49249200-49249200;G/A missense_variant False ZP2@p.E650Q 1 0.090909091 ENSG00000103310 chr16:21198842-21198842;C/G missense_variant False ZNF99@p.C707R 1 0.118644068 ENSG00000213973 chr19:22757790-22757790;A/G missense_variant False ZNF99@p.R777K 1 0.133333333 ENSG00000213973 chr19:22757579-22757579;C/T missense_variant False ZNF99@p.L15V 1 0.093023256 ENSG00000213973 chr19:22769285-22769285;G/C missense_variant False ZNF99@p.E625Q 1 0.128205128 ENSG00000213973 chr19:22758036-22758036;C/G missense_variant False ZNF99@p.E422D 1 0.573529412 ENSG00000213973 chr19:22758643-22758643;C/A missense_variant False ZNF99@p.E360D 1 0.206349206 ENSG00000213973 chr19:22758829-22758829;C/A missense_variant False ZNF99@p.E288A 1 0.103448276 ENSG00000213973 chr19:22759046-22759046;T/G missense_variant False ZNF99@p.A797V 1 0.166666667 ENSG00000213973 chr19:22757519-22757519;G/A missense_variant False ZNFX1@p.R572T 1 0.339130435 ENSG00000124201 chr20:49270097-49270097;C/G missense_variant False ZNF99@p.A461V 1 0.377358491 ENSG00000213973 chr19:22758527-22758527;G/A missense_variant False ZNF98@p.K235N 1 0.1875 ENSG00000197360 chr19:22392530-22392530;C/G missense_variant False ZNF98@p.H196L 1 0.461538462 ENSG00000197360 chr19:22392648-22392648;T/A missense_variant False ZNF98@p.A56S 1 0.168224299 ENSG00000197360 chr19:22402876-22402876;C/A missense_variant False ZNF93@p.T138A 1 0.52 ENSG00000184635 chr19:19933367-19933367;A/G missense_variant False ZNF93@p.S14C 1 0.26519337 ENSG00000184635 chr19:19915317-19915317;C/G missense_variant False ZNF99@p.S354L 1 0.517241379 ENSG00000213973 chr19:22758848-22758848;G/A missense_variant False ZNF99@p.S410L 1 0.272727273 ENSG00000213973 chr19:22758680-22758680;G/A missense_variant False ZNF99@p.S466L 1 0.222222222 ENSG00000213973 chr19:22758512-22758512;G/A missense_variant False ZNF99@p.S549Y 1 0.314285714 ENSG00000213973 chr19:22758263-22758263;G/T missense_variant False ZNFX1@p.C872R 1 0.485436893 ENSG00000124201 chr20:49257467-49257467;A/G missense_variant False ZNFX1@p.D1859N 1 0.30726257 ENSG00000124201 chr20:49247449-49247449;C/T missense_variant False ZNFX1@p.D476N 1 0.32 ENSG00000124201 chr20:49270386-49270386;C/T missense_variant False ZNFX1@p.E1269K 1 0.06626506 ENSG00000124201 chr20:49249219-49249219;C/T missense_variant False ZNFX1@p.E1892K 1 0.369565217 ENSG00000124201 chr20:49247350-49247350;C/T missense_variant False ZNFX1@p.E3D 1 0.339622642 ENSG00000124201 chr20:49275831-49275831;C/G missense_variant False ZNFX1@p.G1824_L1825insR 1 0.240740741 ENSG00000124201 chr20:49247550-49247551;-/GGC inframe_insertion False ZNFX1@p.K1501N 1 0.115384615 ENSG00000124201 chr20:49248521-49248521;C/G missense_variant False ZNFX1@p.Q1792H 1 0.102941176 ENSG00000124201 chr20:49247648-49247648;C/G missense_variant False ZNFX1@p.R1074H 1 0.092592593 ENSG00000124201 chr20:49251618-49251618;C/T missense_variant False ZNFX1@p.R116T 1 0.196923077 ENSG00000124201 chr20:49271465-49271465;C/G missense_variant False ZNFX1@p.R1663L 1 0.16080402 ENSG00000124201 chr20:49248036-49248036;C/A missense_variant False ZNFX1@p.R1885Ifs*19 1 0.113636364 ENSG00000124201 chr20:49247355-49247370;GCAAGCTGGTTGCTTC/- frameshift_variant False ZP2@p.E527K 1 0.162790698 ENSG00000103310 chr16:21201484-21201484;C/T missense_variant False ZP2@p.P628A 1 0.3125 ENSG00000103310 chr16:21199615-21199615;G/C missense_variant False ZSCAN22@p.D249H 1 0.12804878 ENSG00000182318 chr19:58338595-58338595;G/C missense_variant False ZRSR2@p.E93K 1 0.235294118 ENSG00000169249 chrX:15803761-15803761;G/A missense_variant False ZSCAN10@p.R319H 1 0.333333333 ENSG00000130182 chr16:3090313-3090313;C/T missense_variant False ZSCAN10@p.R306H 1 0.25 ENSG00000130182 chr16:3090352-3090352;C/T missense_variant False ZSCAN10@p.Q506H 1 0.636363636 ENSG00000130182 chr16:3089751-3089751;C/G missense_variant False ZSCAN10@p.P248S 1 0.425531915 ENSG00000130182 chr16:3090527-3090527;G/A missense_variant False ZSCAN10@p.D215N 1 0.166666667 ENSG00000130182 chr16:3090626-3090626;C/T missense_variant False ZSCAN10@p.A539V 1 0.192307692 ENSG00000130182 chr16:3089653-3089653;G/A missense_variant False ZRANB3@p.S997L 1 0.141843972 ENSG00000121988 chr2:135207453-135207453;G/A missense_variant False ZRANB2@p.P269A 1 0.333333333 ENSG00000132485 chr1:71066900-71066900;G/C missense_variant False ZRANB3@p.R237K 1 0.2 ENSG00000121988 chr2:135315498-135315498;C/T missense_variant False ZRANB3@p.R1009K 1 0.25 ENSG00000121988 chr2:135202947-135202947;C/T missense_variant False ZRANB3@p.D500V 1 0.378378378 ENSG00000121988 chr2:135265574-135265574;T/A missense_variant False ZRANB3@p.D23H 1 0.224489796 ENSG00000121988 chr2:135504423-135504423;C/G missense_variant False ZRANB3@p.D157H 1 0.461538462 ENSG00000121988 chr2:135350106-135350106;C/G missense_variant False ZRANB3@p.D138N 1 0.162162162 ENSG00000121988 chr2:135350163-135350163;C/T missense_variant False ZSCAN10@p.R388H 1 0.208333333 ENSG00000130182 chr16:3090106-3090106;C/T missense_variant False ZSCAN18@p.A120T 1 0.191082803 ENSG00000121413 chr19:58089910-58089910;C/T missense_variant False ZSCAN18@p.G143C 1 0.069767442 ENSG00000121413 chr19:58088814-58088814;C/A missense_variant False ZSCAN18@p.Q87H 1 0.461538462 ENSG00000121413 chr19:58090007-58090007;C/G missense_variant False ZSCAN18@p.W229L 1 0.193548387 ENSG00000121413 chr19:58086965-58086965;C/A missense_variant False ZSCAN1@p.A167T 1 0.5625 ENSG00000152467 chr19:58052523-58052523;G/A missense_variant False ZSCAN1@p.R260C 1 0.117647059 ENSG00000152467 chr19:58053602-58053602;C/T missense_variant False ZSCAN20@p.E345Q 1 0.17721519 ENSG00000121903 chr1:33491291-33491291;G/C missense_variant False ZSCAN20@p.E452K 1 0.354166667 ENSG00000121903 chr1:33491612-33491612;G/A missense_variant False ZSCAN20@p.G579V 1 0.166666667 ENSG00000121903 chr1:33493478-33493478;G/T missense_variant False ZSCAN20@p.P396Q 1 0.24822695 ENSG00000121903 chr1:33491445-33491445;C/A missense_variant False ZSCAN20@p.R1007I 1 0.392857143 ENSG00000121903 chr1:33495364-33495364;G/T missense_variant False ZSCAN20@p.S689F 1 0.268292683 ENSG00000121903 chr1:33494410-33494410;C/T missense_variant False ZSCAN20@p.W663R 1 0.304347826 ENSG00000121903 chr1:33494331-33494331;T/A missense_variant False ZSCAN21@p.E29K 1 0.165467626 ENSG00000166529 chr7:100057091-100057091;G/A missense_variant False ZSCAN21@p.R436K 1 0.460784314 ENSG00000166529 chr7:100064502-100064502;G/A missense_variant False ZSCAN21@p.S429C 1 0.294117647 ENSG00000166529 chr7:100064481-100064481;C/G missense_variant False ZRANB2@p.R28K 1 0.323232323 ENSG00000132485 chr1:71078682-71078682;C/T missense_variant False ZRANB2@p.N184S 1 0.333333333 ENSG00000132485 chr1:71070959-71070959;T/C missense_variant False ZP2@p.R529T 1 0.086956522 ENSG00000103310 chr16:21201477-21201477;C/G missense_variant False ZP4@p.Q448K 1 0.272727273 ENSG00000116996 chr1:237884817-237884817;G/T missense_variant False ZPBP2@p.S143L 1 0.339130435 ENSG00000186075 chr17:39872291-39872291;C/T missense_variant False ZPBP2@p.G283Efs*28 1 0.228813559 ENSG00000186075 chr17:39875392-39875392;G/- frameshift_variant False ZPBP2@p.E90K 1 0.3 ENSG00000186075 chr17:39871487-39871487;G/A missense_variant False ZPBP2@p.E196Q 1 0.490196078 ENSG00000186075 chr17:39872449-39872449;G/C missense_variant False ZPBP2@p.D98H 1 0.111111111 ENSG00000186075 chr17:39871511-39871511;G/C missense_variant False ZPBP2@p.D228N 1 0.194805195 ENSG00000186075 chr17:39873100-39873100;G/A missense_variant False ZP4@p.P484L 1 0.136842105 ENSG00000116996 chr1:237882786-237882786;G/A missense_variant False ZRANB1@p.S587C 1 0.130434783 ENSG00000019995 chr10:124983540-124983540;C/G missense_variant False ZP4@p.N60T 1 0.487394958 ENSG00000116996 chr1:237890173-237890173;T/G missense_variant False ZP4@p.H33Tfs*11 1 0.148148148 ENSG00000116996 chr1:237890539-237890539;G/- frameshift_variant False ZP4@p.E122Q 1 0.152542373 ENSG00000116996 chr1:237889903-237889903;C/G missense_variant False ZP3@p.V214M 1 0.327433628 ENSG00000188372 chr7:76433574-76433574;G/A missense_variant False ZP3@p.L390P 1 0.426229508 ENSG00000188372 chr7:76441950-76441950;T/C missense_variant False ZP2@p.T146I 1 0.348623853 ENSG00000103310 chr16:21206884-21206884;G/A missense_variant False ZPBP@p.A160V 1 0.189189189 ENSG00000042813 chr7:50057997-50057997;G/A missense_variant False ZPBP@p.D58N 1 0.117647059 ENSG00000042813 chr7:50089665-50089665;C/T missense_variant False ZPBP@p.Q273H 1 0.418604651 ENSG00000042813 chr7:49983484-49983484;T/A missense_variant False ZPBP@p.R280C 1 0.565217391 ENSG00000042813 chr7:49983465-49983465;G/A missense_variant False ZPBP@p.S214C 1 0.099009901 ENSG00000042813 chr7:50031157-50031157;G/C missense_variant False ZPLD1@p.F94C 1 0.425531915 ENSG00000170044 chr3:102453093-102453093;T/G missense_variant False ZPR1@p.D160Y 1 0.234042553 ENSG00000109917 chr11:116786528-116786528;C/A missense_variant False ZPR1@p.M399L 1 0.319444444 ENSG00000109917 chr11:116779822-116779822;T/A missense_variant False ZPR1@p.Q212L 1 0.557692308 ENSG00000109917 chr11:116785584-116785584;T/A missense_variant False ZPR1@p.R430C 1 0.580645161 ENSG00000109917 chr11:116779017-116779017;G/A missense_variant False ZRANB1@p.E500K 1 0.23943662 ENSG00000019995 chr10:124981779-124981779;G/A missense_variant False ZRANB1@p.E593K 1 0.5 ENSG00000019995 chr10:124983557-124983557;G/A missense_variant False ZRANB1@p.L65F 1 0.336363636 ENSG00000019995 chr10:124942688-124942688;G/C missense_variant False ZRANB1@p.R143I 1 0.414285714 ENSG00000019995 chr10:124942921-124942921;G/T missense_variant False ZRANB1@p.R688Q 1 0.4 ENSG00000019995 chr10:124984928-124984928;G/A missense_variant False ZRANB1@p.S133C 1 0.201754386 ENSG00000019995 chr10:124942891-124942891;C/G missense_variant False ZRANB1@p.S307C 1 0.097222222 ENSG00000019995 chr10:124966699-124966699;C/G missense_variant False ZNF777@p.P24L 1 0.414141414 ENSG00000196453 chr7:149455952-149455952;G/A missense_variant False ZNF777@p.H130P 1 0.331210191 ENSG00000196453 chr7:149455634-149455634;T/G missense_variant False ZNF583@p.K499N 1 0.275362319 ENSG00000198440 chr19:56424155-56424155;A/T missense_variant False ZNF624@p.E672K 1 0.304 ENSG00000197566 chr17:16622872-16622872;C/T missense_variant False ZNF625@p.S314F 1 0.065359477 ENSG00000257591 chr19:12145475-12145475;G/A missense_variant False ZNF625@p.P218S 1 0.491803279 ENSG00000257591 chr19:12145764-12145764;G/A missense_variant False ZNF624@p.R576H 1 0.2 ENSG00000197566 chr17:16623159-16623159;C/T missense_variant False ZNF624@p.R28P 1 0.136363636 ENSG00000197566 chr17:16649662-16649662;C/G missense_variant False ZNF624@p.Q859E 1 0.233009709 ENSG00000197566 chr17:16622311-16622311;G/C missense_variant False ZNF624@p.F817L 1 0.171428571 ENSG00000197566 chr17:16622435-16622435;G/C missense_variant False ZNF623@p.S426F 1 0.376 ENSG00000183309 chr8:143651149-143651149;C/T missense_variant False ZNF626@p.E205Q 1 0.261538462 ENSG00000188171 chr19:20625264-20625264;C/G missense_variant False ZNF623@p.R177T 1 0.319148936 ENSG00000183309 chr8:143650402-143650402;G/C missense_variant False ZNF623@p.R115T 1 0.127071823 ENSG00000183309 chr8:143650216-143650216;G/C missense_variant False ZNF623@p.Q450H 1 0.125 ENSG00000183309 chr8:143651222-143651222;G/C missense_variant False ZNF623@p.Q198E 1 0.480916031 ENSG00000183309 chr8:143650464-143650464;C/G missense_variant False ZNF623@p.H313D 1 0.445255474 ENSG00000183309 chr8:143650809-143650809;C/G missense_variant False ZNF623@p.G159C 1 0.14893617 ENSG00000183309 chr8:143650347-143650347;G/T missense_variant False ZNF625@p.S345N 1 0.140740741 ENSG00000257591 chr19:12145382-12145382;C/T missense_variant False ZNF626@p.E226K 1 0.35 ENSG00000188171 chr19:20625201-20625201;C/T missense_variant False ZNF658@p.E126K 1 0.43902439 ENSG00000274349 chr9:66917942-66917942;G/A missense_variant False ZNF626@p.T64I 1 0.114285714 ENSG00000188171 chr19:20645719-20645719;G/A missense_variant False ZNF629@p.E266K 1 0.322580645 ENSG00000102870 chr16:30783532-30783532;C/T missense_variant False ZNF628@p.T831A 1 0.125 ENSG00000197483 chr19:55483684-55483684;A/G missense_variant False ZNF628@p.R582Q 1 0.19047619 ENSG00000197483 chr19:55482938-55482938;G/A missense_variant False ZNF628@p.H566Q 1 0.14893617 ENSG00000197483 chr19:55482891-55482891;C/G missense_variant False ZNF627@p.R323I 1 0.176470588 ENSG00000198551 chr19:11617471-11617471;G/T missense_variant False ZNF627@p.E252Q 1 0.2 ENSG00000198551 chr19:11617257-11617257;G/C missense_variant False ZNF626@p.S298L 1 0.159340659 ENSG00000188171 chr19:20624984-20624984;G/A missense_variant False ZNF626@p.E233Q 1 0.233333333 ENSG00000188171 chr19:20625180-20625180;C/G missense_variant False ZNF626@p.S186L 1 0.596153846 ENSG00000188171 chr19:20625320-20625320;G/A missense_variant False ZNF626@p.K248N 1 0.303797468 ENSG00000188171 chr19:20625133-20625133;C/G missense_variant False ZNF626@p.H279Y 1 0.225165563 ENSG00000188171 chr19:20625042-20625042;G/A missense_variant False ZNF626@p.F294L 1 0.141732283 ENSG00000188171 chr19:20624995-20624995;G/T missense_variant False ZNF626@p.E478D 1 0.380952381 ENSG00000188171 chr19:20624443-20624443;C/G missense_variant False ZNF626@p.E422D 1 0.53125 ENSG00000188171 chr19:20624611-20624611;C/G missense_variant False ZNF623@p.E400D 1 0.137254902 ENSG00000183309 chr8:143651072-143651072;G/C missense_variant False ZNF623@p.E260Q 1 0.142857143 ENSG00000183309 chr8:143650650-143650650;G/C missense_variant False ZNF622@p.T163Pfs*97 1 0.227272727 ENSG00000173545 chr5:16465165-16465180;CCCACGGCCACCAGTA/- frameshift_variant False ZNF616@p.H651N 1 0.511363636 ENSG00000204611 chr19:52115213-52115213;G/T missense_variant False ZNF618@p.A856S 1 0.49137931 ENSG00000157657 chr9:114049868-114049868;G/T missense_variant False ZNF616@p.V369I 1 0.448 ENSG00000204611 chr19:52116059-52116059;C/T missense_variant False ZNF616@p.S731Pfs*35 1 0.145038168 ENSG00000204611 chr19:52114973-52114973;A/- frameshift_variant False ZNF616@p.S226L 1 0.204918033 ENSG00000204611 chr19:52116487-52116487;G/A missense_variant False ZNF616@p.R766T 1 0.174311927 ENSG00000204611 chr19:52114867-52114867;C/G missense_variant False ZNF616@p.L592F 1 0.417721519 ENSG00000204611 chr19:52115390-52115390;G/A missense_variant False ZNF616@p.H511Y 1 0.210843373 ENSG00000204611 chr19:52115633-52115633;G/A missense_variant False ZNF622@p.S65W 1 0.421875 ENSG00000173545 chr5:16465472-16465472;G/C missense_variant False ZNF616@p.E61G 1 0.05904059 ENSG00000204611 chr19:52116982-52116982;T/C missense_variant False ZNF615@p.Q279H 1 0.1875 ENSG00000197619 chr19:51994239-51994239;C/G missense_variant False ZNF615@p.L88V 1 0.49122807 ENSG00000197619 chr19:51994814-51994814;G/C missense_variant False ZNF615@p.I640V 1 0.044692737 ENSG00000197619 chr19:51993158-51993158;T/C missense_variant False ZNF615@p.E355K 1 0.322580645 ENSG00000197619 chr19:51994013-51994013;C/T missense_variant False ZNF615@p.D35Gfs*38 1 0.454308094 ENSG00000197619 chr19:52002193-52002194;-/C frameshift_variant False ZNF618@p.I747M 1 0.304347826 ENSG00000157657 chr9:114049543-114049543;C/G missense_variant False ZNF619@p.K335N 1 0.177419355 ENSG00000177873 chr3:40487563-40487563;G/C missense_variant False ZNF619@p.S531L 1 0.128571429 ENSG00000177873 chr3:40488150-40488150;C/T missense_variant False ZNF620@p.D128H 1 0.325842697 ENSG00000177842 chr3:40515976-40515976;G/C missense_variant False ZNF620@p.E14Q 1 0.517647059 ENSG00000177842 chr3:40511485-40511485;G/C missense_variant False ZNF620@p.E160K 1 0.291666667 ENSG00000177842 chr3:40516072-40516072;G/A missense_variant False ZNF620@p.E171Q 1 0.631578947 ENSG00000177842 chr3:40516105-40516105;G/C missense_variant False ZNF620@p.E67K 1 0.25 ENSG00000177842 chr3:40512449-40512449;G/A missense_variant False ZNF620@p.E91K 1 0.137931034 ENSG00000177842 chr3:40515865-40515865;G/A missense_variant False ZNF620@p.F112L 1 0.222222222 ENSG00000177842 chr3:40515930-40515930;C/G missense_variant False ZNF620@p.S61C 1 0.634146341 ENSG00000177842 chr3:40512432-40512432;C/G missense_variant False ZNF621@p.E260Q 1 0.128205128 ENSG00000172888 chr3:40532548-40532548;G/C missense_variant False ZNF622@p.D15N 1 0.275 ENSG00000173545 chr5:16465623-16465623;C/T missense_variant False ZNF622@p.F477L 1 0.064516129 ENSG00000173545 chr5:16451660-16451660;G/C missense_variant False ZNF622@p.P144T 1 0.330275229 ENSG00000173545 chr5:16465236-16465236;G/T missense_variant False ZNF622@p.R390K 1 0.064393939 ENSG00000173545 chr5:16453150-16453150;C/T missense_variant False ZNF622@p.S370L 1 0.215384615 ENSG00000173545 chr5:16458570-16458570;G/A missense_variant False ZNF629@p.Q613E 1 0.363636364 ENSG00000102870 chr16:30782491-30782491;G/C missense_variant False ZNF629@p.S331L 1 0.314606742 ENSG00000102870 chr16:30783336-30783336;G/A missense_variant False ZNF630@p.I588M 1 0.375 ENSG00000221994 chrX:48058678-48058678;T/C missense_variant False ZNF646@p.S712L 1 0.295454545 ENSG00000167395 chr16:31078459-31078459;C/T missense_variant False ZNF649@p.H318D 1 0.415384615 ENSG00000198093 chr19:51891184-51891184;G/C missense_variant False ZNF649@p.D16H 1 0.159090909 ENSG00000198093 chr19:51896948-51896948;C/G missense_variant False ZNF648@p.L141V 1 0.153846154 ENSG00000179930 chr1:182057590-182057590;G/C missense_variant False ZNF648@p.G274S 1 0.842105263 ENSG00000179930 chr1:182057191-182057191;C/T missense_variant False ZNF648@p.F448L 1 0.15 ENSG00000179930 chr1:182056667-182056667;G/C missense_variant False ZNF648@p.E241K 1 0.653846154 ENSG00000179930 chr1:182057290-182057290;C/T missense_variant False ZNF646@p.S1016C 1 0.405594406 ENSG00000167395 chr16:31079371-31079371;C/G missense_variant False ZNF644@p.Q1109E 1 0.186046512 ENSG00000122482 chr1:90937848-90937848;G/C missense_variant False ZNF646@p.L504I 1 0.150943396 ENSG00000167395 chr16:31077834-31077834;C/A missense_variant False ZNF646@p.E874K 1 0.259259259 ENSG00000167395 chr16:31078944-31078944;G/A missense_variant False ZNF646@p.E226G 1 0.476744186 ENSG00000167395 chr16:31077001-31077001;A/G missense_variant False ZNF646@p.D42N 1 0.294117647 ENSG00000167395 chr16:31076448-31076448;G/A missense_variant False ZNF644@p.S675L 1 0.283333333 ENSG00000122482 chr1:90939330-90939330;G/A missense_variant False ZNF644@p.S65Ifs*6 1 0.13368984 ENSG00000122482 chr1:90941161-90941162;-/T frameshift_variant False ZNF649@p.I335M 1 0.388059701 ENSG00000198093 chr19:51891131-51891131;T/C missense_variant False ZNF652@p.E155K 1 0.326732673 ENSG00000198740 chr17:49317263-49317263;C/T missense_variant False ZNF652@p.H268D 1 0.132352941 ENSG00000198740 chr17:49316924-49316924;G/C missense_variant False ZNF652@p.Y396C 1 0.395136778 ENSG00000198740 chr17:49311434-49311434;T/C missense_variant False ZNF653@p.E208Q 1 0.173913043 ENSG00000161914 chr19:11487841-11487841;C/G missense_variant False ZNF653@p.E401K 1 0.364238411 ENSG00000161914 chr19:11487129-11487129;C/T missense_variant False ZNF653@p.E417Q 1 0.226993865 ENSG00000161914 chr19:11487081-11487081;C/G missense_variant False ZNF653@p.N513S 1 0.105633803 ENSG00000161914 chr19:11485688-11485688;T/C missense_variant False ZNF653@p.S172L 1 0.35483871 ENSG00000161914 chr19:11495994-11495994;G/A missense_variant False ZNF654@p.N823K 1 0.393442623 ENSG00000175105 chr3:88140138-88140138;C/G missense_variant False ZNF654@p.S1024F 1 0.109243697 ENSG00000175105 chr3:88140740-88140740;C/T missense_variant False ZNF654@p.S627L 1 0.30952381 ENSG00000175105 chr3:88139549-88139549;C/T missense_variant False ZNF655@p.E176K 1 0.132352941 ENSG00000197343 chr7:99572634-99572634;G/A missense_variant False ZNF655@p.E25Q 1 0.316455696 ENSG00000197343 chr7:99560632-99560632;G/C missense_variant False ZNF655@p.K294N 1 0.298076923 ENSG00000197343 chr7:99572990-99572990;G/C missense_variant False ZNF655@p.K301T 1 0.216981132 ENSG00000197343 chr7:99573010-99573010;A/C missense_variant False ZNF655@p.R314H 1 0.575539568 ENSG00000197343 chr7:99573049-99573049;G/A missense_variant False ZNF644@p.S164F 1 0.158469945 ENSG00000122482 chr1:90940863-90940863;G/A missense_variant False ZNF644@p.L178V 1 0.4875 ENSG00000122482 chr1:90940822-90940822;A/C missense_variant False ZNF630@p.L25F 1 0.4 ENSG00000221994 chrX:48060886-48060886;C/G missense_variant False ZNF638@p.E723Q 1 0.172413793 ENSG00000075292 chr2:71369907-71369907;G/C missense_variant False ZNF638@p.S1505R 1 0.321428571 ENSG00000075292 chr2:71424029-71424029;C/A missense_variant False ZNF638@p.R497K 1 0.151162791 ENSG00000075292 chr2:71364025-71364025;G/A missense_variant False ZNF638@p.R422I 1 0.447368421 ENSG00000075292 chr2:71350219-71350219;G/T missense_variant False ZNF638@p.P1730R 1 0.386861314 ENSG00000075292 chr2:71427058-71427058;C/G missense_variant False ZNF638@p.I1326V 1 0.155844156 ENSG00000075292 chr2:71423490-71423490;A/G missense_variant False ZNF638@p.H109Y 1 0.245098039 ENSG00000075292 chr2:71349279-71349279;C/T missense_variant False ZNF638@p.E1822Q 1 0.169811321 ENSG00000075292 chr2:71427333-71427333;G/C missense_variant False ZNF644@p.K849N 1 0.8 ENSG00000122482 chr1:90938807-90938807;C/G missense_variant False ZNF638@p.E1512G 1 0.128205128 ENSG00000075292 chr2:71424660-71424660;A/G missense_variant False ZNF638@p.E1451K 1 0.357142857 ENSG00000075292 chr2:71423865-71423865;G/A missense_variant False ZNF638@p.D657N 1 0.09375 ENSG00000075292 chr2:71365680-71365680;G/A missense_variant False ZNF638@p.D463H 1 0.342105263 ENSG00000075292 chr2:71363160-71363160;G/C missense_variant False ZNF638@p.A625T 1 0.233766234 ENSG00000075292 chr2:71365584-71365584;G/A missense_variant False ZNF630@p.Q338H 1 0.058823529 ENSG00000221994 chrX:48059428-48059428;C/G missense_variant False ZNF638@p.S537F 1 0.306666667 ENSG00000075292 chr2:71364145-71364145;C/T missense_variant False ZNF638@p.S568L 1 0.344444444 ENSG00000075292 chr2:71364238-71364238;C/T missense_variant False ZNF639@p.A146V 1 0.451612903 ENSG00000121864 chr3:179333401-179333401;C/T missense_variant False ZNF639@p.E396Q 1 0.537313433 ENSG00000121864 chr3:179334150-179334150;G/C missense_variant False ZNF639@p.E417K 1 0.563636364 ENSG00000121864 chr3:179334213-179334213;G/A missense_variant False ZNF641@p.L149V 1 0.17699115 ENSG00000167528 chr12:48345348-48345348;G/C missense_variant False ZNF641@p.Q339R 1 0.240740741 ENSG00000167528 chr12:48343274-48343274;T/C missense_variant False ZNF641@p.R330L 1 0.21875 ENSG00000167528 chr12:48343301-48343301;C/A missense_variant False ZNF644@p.A184T 1 0.109589041 ENSG00000122482 chr1:90940804-90940804;C/T missense_variant False ZNF644@p.D81N 1 0.159292035 ENSG00000122482 chr1:90941113-90941113;C/T missense_variant False ZNF644@p.E1152K 1 0.111111111 ENSG00000122482 chr1:90937719-90937719;C/T missense_variant False ZNF644@p.E1173Q 1 0.157894737 ENSG00000122482 chr1:90937656-90937656;C/G missense_variant False ZNF644@p.E606Q 1 0.178861789 ENSG00000122482 chr1:90939538-90939538;C/G missense_variant False ZNF644@p.E728Q 1 0.135416667 ENSG00000122482 chr1:90939172-90939172;C/G missense_variant False ZNF644@p.G491E 1 0.248062016 ENSG00000122482 chr1:90939882-90939882;C/T missense_variant False ZNF644@p.H432Y 1 0.202247191 ENSG00000122482 chr1:90940060-90940060;G/A missense_variant False ZNF644@p.K39E 1 0.196319018 ENSG00000122482 chr1:90941239-90941239;T/C missense_variant False ZNF614@p.Q466H 1 0.290697674 ENSG00000142556 chr19:52016200-52016200;C/G missense_variant False ZNF614@p.P583S 1 0.342723005 ENSG00000142556 chr19:52015851-52015851;G/A missense_variant False ZNF614@p.E65K 1 0.196078431 ENSG00000142556 chr19:52018053-52018053;C/T missense_variant False ZNF595@p.C510Y 1 0.083333333 ENSG00000272602 chr4:87033-87033;G/A missense_variant False ZNF595@p.S181L 1 0.571428571 ENSG00000272602 chr4:86046-86046;C/T missense_variant False ZNF595@p.K471N 1 0.166666667 ENSG00000272602 chr4:86917-86917;G/T missense_variant False ZNF595@p.H582R 1 0.263888889 ENSG00000272602 chr4:87249-87249;A/G missense_variant False ZNF595@p.H418Y 1 0.194444444 ENSG00000272602 chr4:86756-86756;C/T missense_variant False ZNF595@p.E553Q 1 0.266666667 ENSG00000272602 chr4:87161-87161;G/C missense_variant False ZNF595@p.E337K 1 0.192307692 ENSG00000272602 chr4:86513-86513;G/A missense_variant False ZNF594@p.Y708N 1 0.093567251 ENSG00000180626 chr17:5182135-5182135;A/T missense_variant False ZNF594@p.E41K 1 0.096491228 ENSG00000180626 chr17:5184136-5184136;C/T missense_variant False ZNF594@p.V199L 1 0.301470588 ENSG00000180626 chr17:5183662-5183662;C/G missense_variant False ZNF594@p.H398Y 1 0.745810056 ENSG00000180626 chr17:5183065-5183065;G/A missense_variant False ZNF594@p.H289Y 1 0.11299435 ENSG00000180626 chr17:5183392-5183392;G/A missense_variant False ZNF594@p.F332L 1 0.197452229 ENSG00000180626 chr17:5183261-5183261;G/T missense_variant False ZNF594@p.F248L 1 0.448648649 ENSG00000180626 chr17:5183513-5183513;G/T missense_variant False ZNF594@p.E739D 1 0.05511811 ENSG00000180626 chr17:5182040-5182040;C/G missense_variant False ZNF595@p.S363C 1 0.823529412 ENSG00000272602 chr4:86592-86592;C/G missense_variant False ZNF596@p.E248D 1 0.078431373 ENSG00000172748 chr8:245591-245591;G/T missense_variant False ZNF596@p.M134I 1 0.326530612 ENSG00000172748 chr8:245249-245249;G/A missense_variant False ZNF596@p.R76T 1 0.125 ENSG00000172748 chr8:244622-244622;G/C missense_variant False ZNF597@p.I205T 1 0.403225806 ENSG00000167981 chr16:3437085-3437085;A/G missense_variant False ZNF597@p.N278T 1 0.151162791 ENSG00000167981 chr16:3436866-3436866;T/G missense_variant False ZNF597@p.Q25E 1 0.108108108 ENSG00000167981 chr16:3440894-3440894;G/C missense_variant False ZNF598@p.L896Rfs*28 1 0.083832335 ENSG00000167962 chr16:1998238-1998262;GATGATCCTGGCGATGGCTTGCAGG/- frameshift_variant False ZNF598@p.P424S 1 0.10619469 ENSG00000167962 chr16:2000413-2000413;G/A missense_variant False ZNF599@p.E100K 1 0.076923077 ENSG00000153896 chr19:34760503-34760503;C/T missense_variant False ZNF599@p.E504D 1 0.08 ENSG00000153896 chr19:34759289-34759289;C/G missense_variant False ZNF599@p.H406D 1 0.38028169 ENSG00000153896 chr19:34759585-34759585;G/C missense_variant False ZNF599@p.M498I 1 0.220588235 ENSG00000153896 chr19:34759307-34759307;C/G missense_variant False ZNF599@p.R195T 1 0.3125 ENSG00000153896 chr19:34760217-34760217;C/G missense_variant False ZNF599@p.R307P 1 0.125984252 ENSG00000153896 chr19:34759881-34759881;C/G missense_variant False ZNF599@p.S112F 1 0.34 ENSG00000153896 chr19:34760466-34760466;G/A missense_variant False ZNF599@p.S576L 1 0.350746269 ENSG00000153896 chr19:34759074-34759074;G/A missense_variant False ZNF594@p.E600Q 1 0.56097561 ENSG00000180626 chr17:5182459-5182459;C/G missense_variant False ZNF594@p.E312G 1 0.433962264 ENSG00000180626 chr17:5183322-5183322;T/C missense_variant False ZNF600@p.D308N 1 0.285714286 ENSG00000189190 chr19:52766834-52766834;C/T missense_variant False ZNF585A@p.H208Y 1 0.294117647 ENSG00000196967 chr19:37153277-37153277;G/A missense_variant False ZNF585B@p.R322T 1 0.187165775 ENSG00000267360 chr19:37186572-37186572;C/G missense_variant False ZNF585B@p.Q169H 1 0.077922078 ENSG00000267360 chr19:37187030-37187030;C/G missense_variant False ZNF585B@p.K346N 1 0.076923077 ENSG00000267360 chr19:37186499-37186499;C/G missense_variant False ZNF585B@p.G742A 1 0.047794118 ENSG00000267360 chr19:37185312-37185312;C/G missense_variant False ZNF585B@p.E722K 1 0.12 ENSG00000267360 chr19:37185373-37185373;C/T missense_variant False ZNF585A@p.H372Y 1 0.11023622 ENSG00000196967 chr19:37152785-37152785;G/A missense_variant False ZNF585A@p.G528R 1 0.187096774 ENSG00000196967 chr19:37152317-37152317;C/T missense_variant False ZNF594@p.D253H 1 0.081632653 ENSG00000180626 chr17:5183500-5183500;C/G missense_variant False ZNF584@p.T23M 1 0.423913043 ENSG00000171574 chr19:58409990-58409990;C/T missense_variant False ZNF584@p.R102K 1 0.114285714 ENSG00000171574 chr19:58416823-58416823;G/A missense_variant False ZNF584@p.E111K 1 0.28 ENSG00000171574 chr19:58416849-58416849;G/A missense_variant False ZNF583@p.Q154E 1 0.244680851 ENSG00000198440 chr19:56423118-56423118;C/G missense_variant False ZNF583@p.P491L 1 0.215909091 ENSG00000198440 chr19:56424130-56424130;C/T missense_variant False ZNF583@p.K527T 1 0.41221374 ENSG00000198440 chr19:56424238-56424238;A/C missense_variant False ZNF585B@p.R585K 1 0.325 ENSG00000267360 chr19:37185783-37185783;C/T missense_variant False ZNF585B@p.S199L 1 0.106060606 ENSG00000267360 chr19:37186941-37186941;G/A missense_variant False ZNF586@p.L253F 1 0.146067416 ENSG00000083828 chr19:57779346-57779346;G/C missense_variant False ZNF586@p.R225S 1 0.157894737 ENSG00000083828 chr19:57779262-57779262;G/T missense_variant False ZNF586@p.R282T 1 0.230769231 ENSG00000083828 chr19:57779432-57779432;G/C missense_variant False ZNF587@p.E325K 1 0.271428571 ENSG00000198466 chr19:57859385-57859385;G/A missense_variant False ZNF587@p.E34K 1 0.35106383 ENSG00000198466 chr19:57856170-57856170;G/A missense_variant False ZNF587@p.G215E 1 0.291666667 ENSG00000198466 chr19:57859056-57859056;G/A missense_variant False ZNF587@p.H398R 1 0.414634146 ENSG00000198466 chr19:57859605-57859605;A/G missense_variant False ZNF587@p.L31F 1 0.151515152 ENSG00000198466 chr19:57856161-57856161;C/T missense_variant False ZNF589@p.P108L 1 0.220779221 ENSG00000164048 chr3:48268014-48268014;C/T missense_variant False ZNF589@p.R283Q 1 0.364864865 ENSG00000164048 chr3:48268539-48268539;G/A missense_variant False ZNF589@p.R339Q 1 0.160377358 ENSG00000164048 chr3:48268707-48268707;G/A missense_variant False ZNF589@p.S228L 1 0.27027027 ENSG00000164048 chr3:48268374-48268374;C/T missense_variant False ZNF592@p.F627L 1 0.231884058 ENSG00000166716 chr15:84784556-84784556;C/G missense_variant False ZNF592@p.P102_K109del 1 0.388888889 ENSG00000166716 chr15:84782978-84783001;TCCAGATCCCCACAACTGTGGGAA/- inframe_deletion False ZNF592@p.S779C 1 0.08 ENSG00000166716 chr15:84790820-84790820;C/G missense_variant False ZNF599@p.Y339N 1 0.431818182 ENSG00000153896 chr19:34759786-34759786;A/T missense_variant False ZNF600@p.E112Q 1 0.037383178 ENSG00000189190 chr19:52767422-52767422;C/G missense_variant False ZNF614@p.E474K 1 0.086567164 ENSG00000142556 chr19:52016178-52016178;C/T missense_variant False ZNF608@p.S1034C 1 0.235294118 ENSG00000168916 chr5:124647283-124647283;G/C missense_variant False ZNF609@p.K1310N 1 0.461538462 ENSG00000180357 chr15:64680345-64680345;G/C missense_variant False ZNF609@p.E635Q 1 0.46969697 ENSG00000180357 chr15:64674757-64674757;G/C missense_variant False ZNF609@p.E180K 1 0.363636364 ENSG00000180357 chr15:64499957-64499957;G/A missense_variant False ZNF608@p.V1399A 1 0.371428571 ENSG00000168916 chr5:124643611-124643611;A/G missense_variant False ZNF608@p.S970F 1 0.253731343 ENSG00000168916 chr5:124647475-124647475;G/A missense_variant False ZNF608@p.S327F 1 0.180555556 ENSG00000168916 chr5:124701196-124701196;G/A missense_variant False ZNF608@p.R199L 1 0.3 ENSG00000168916 chr5:124744394-124744394;C/A missense_variant False ZNF607@p.R581Q 1 0.346153846 ENSG00000198182 chr19:37698389-37698389;C/T missense_variant False ZNF608@p.M1222T 1 0.161290323 ENSG00000168916 chr5:124646719-124646719;A/G missense_variant False ZNF608@p.L1252V 1 0.526315789 ENSG00000168916 chr5:124644613-124644613;G/C missense_variant False ZNF608@p.G367R 1 0.181818182 ENSG00000168916 chr5:124701077-124701077;C/G missense_variant False ZNF608@p.E905Q 1 0.372093023 ENSG00000168916 chr5:124647671-124647671;C/G missense_variant False ZNF608@p.E882K 1 0.137614679 ENSG00000168916 chr5:124647740-124647740;C/T missense_variant False ZNF608@p.D18N 1 0.296296296 ENSG00000168916 chr5:124744938-124744938;C/T missense_variant False ZNF609@p.R376C 1 0.046875 ENSG00000180357 chr15:64673980-64673980;C/T missense_variant False ZNF609@p.S1102G 1 0.394366197 ENSG00000180357 chr15:64676158-64676158;A/G missense_variant False ZNF609@p.S255F 1 0.16091954 ENSG00000180357 chr15:64622843-64622843;C/T missense_variant False ZNF609@p.S95R 1 0.285714286 ENSG00000180357 chr15:64499702-64499702;A/C missense_variant False ZNF610@p.E229D 1 0.454545455 ENSG00000167554 chr19:52366065-52366065;G/T missense_variant False ZNF610@p.E376K 1 0.382352941 ENSG00000167554 chr19:52366504-52366504;G/A missense_variant False ZNF610@p.Q88E 1 0.672727273 ENSG00000167554 chr19:52354322-52354322;C/G missense_variant False ZNF610@p.R420I 1 0.405797101 ENSG00000167554 chr19:52366637-52366637;G/T missense_variant False ZNF610@p.T339M 1 0.47826087 ENSG00000167554 chr19:52366394-52366394;C/T missense_variant False ZNF611@p.C348F 1 0.457943925 ENSG00000213020 chr19:52706012-52706012;C/A missense_variant False ZNF611@p.E703D 1 0.572916667 ENSG00000213020 chr19:52704946-52704946;C/A missense_variant False ZNF611@p.G255A 1 0.228571429 ENSG00000213020 chr19:52706291-52706291;C/G missense_variant False ZNF611@p.G80D 1 0.051181102 ENSG00000213020 chr19:52706816-52706816;C/T missense_variant False ZNF613@p.E208K 1 0.339920949 ENSG00000176024 chr19:51944505-51944505;G/A missense_variant False ZNF613@p.E69K 1 0.180555556 ENSG00000176024 chr19:51940679-51940679;G/A missense_variant False ZNF613@p.L443* 1 0.106060606 ENSG00000176024 chr19:51945209-51945209;T/- frameshift_variant False ZNF613@p.R560L 1 0.409090909 ENSG00000176024 chr19:51945562-51945562;G/T missense_variant False ZNF607@p.T493S 1 0.216783217 ENSG00000198182 chr19:37698653-37698653;G/C missense_variant False ZNF607@p.R166P 1 0.229508197 ENSG00000198182 chr19:37699634-37699634;C/G missense_variant False ZNF600@p.E327Q 1 0.125874126 ENSG00000189190 chr19:52766777-52766777;C/G missense_variant False ZNF600@p.R403T 1 0.156069364 ENSG00000189190 chr19:52766548-52766548;C/G missense_variant False ZNF605@p.Q300H 1 0.3 ENSG00000196458 chr12:132926399-132926399;C/G missense_variant False ZNF605@p.E537Q 1 0.392156863 ENSG00000196458 chr12:132925690-132925690;C/G missense_variant False ZNF605@p.E341Q 1 0.083333333 ENSG00000196458 chr12:132926278-132926278;C/G missense_variant False ZNF605@p.D397N 1 0.333333333 ENSG00000196458 chr12:132926110-132926110;C/T missense_variant False ZNF600@p.S175L 1 0.161904762 ENSG00000189190 chr19:52767232-52767232;G/A missense_variant False ZNF600@p.R599T 1 0.035714286 ENSG00000189190 chr19:52765960-52765960;C/G missense_variant False ZNF600@p.Q229E 1 0.36453202 ENSG00000189190 chr19:52767071-52767071;G/C missense_variant False ZNF607@p.Q143E 1 0.401785714 ENSG00000198182 chr19:37699704-37699704;G/C missense_variant False ZNF600@p.Q189Lfs*2 1 0.190909091 ENSG00000189190 chr19:52767189-52767190;TT/- frameshift_variant False ZNF600@p.L429F 1 0.515625 ENSG00000189190 chr19:52766471-52766471;G/A missense_variant False ZNF600@p.H576Y 1 0.485185185 ENSG00000189190 chr19:52766030-52766030;G/A missense_variant False ZNF600@p.G686E 1 0.404255319 ENSG00000189190 chr19:52765699-52765699;C/T missense_variant False ZNF600@p.F34L 1 0.153110048 ENSG00000189190 chr19:52767656-52767656;A/G missense_variant False ZNF600@p.E607Q 1 0.068085106 ENSG00000189190 chr19:52765937-52765937;C/G missense_variant False ZNF605@p.R135K 1 0.106060606 ENSG00000196458 chr12:132926895-132926895;C/T missense_variant False ZNF605@p.R135S 1 0.106060606 ENSG00000196458 chr12:132926894-132926894;T/A missense_variant False ZNF606@p.D181Y 1 0.389473684 ENSG00000166704 chr19:57980139-57980139;C/A missense_variant False ZNF606@p.E397D 1 0.094594595 ENSG00000166704 chr19:57979489-57979489;C/G missense_variant False ZNF606@p.E719D 1 0.429752066 ENSG00000166704 chr19:57978523-57978523;C/G missense_variant False ZNF606@p.E761D 1 0.52991453 ENSG00000166704 chr19:57978397-57978397;C/A missense_variant False ZNF606@p.G406E 1 0.21686747 ENSG00000166704 chr19:57979463-57979463;C/T missense_variant False ZNF606@p.H187Q 1 0.053030303 ENSG00000166704 chr19:57980119-57980119;G/C missense_variant False ZNF606@p.S413F 1 0.485294118 ENSG00000166704 chr19:57979442-57979442;G/A missense_variant False ZNF606@p.S749F 1 0.710526316 ENSG00000166704 chr19:57978434-57978434;G/A missense_variant False ZNF607@p.D40E 1 0.573770492 ENSG00000198182 chr19:37709712-37709712;G/C missense_variant False ZNF607@p.E282K 1 0.088235294 ENSG00000198182 chr19:37699287-37699287;C/T missense_variant False ZNF607@p.H136Y 1 0.128440367 ENSG00000198182 chr19:37699725-37699725;G/A missense_variant False ZNF607@p.H192N 1 0.067385445 ENSG00000198182 chr19:37699557-37699557;G/T missense_variant False ZNF607@p.H579D 1 0.617021277 ENSG00000198182 chr19:37698396-37698396;G/C missense_variant False ZNF607@p.K531N 1 0.426573427 ENSG00000198182 chr19:37698538-37698538;T/G missense_variant False ZNF607@p.Q133E 1 0.208333333 ENSG00000198182 chr19:37699734-37699734;G/C missense_variant False ZNF655@p.R400T 1 0.24742268 ENSG00000197343 chr7:99573307-99573307;G/C missense_variant False ZNF658@p.E921K 1 0.183908046 ENSG00000274349 chr9:66920327-66920327;G/A missense_variant False ZNF777@p.G600R 1 0.24691358 ENSG00000196453 chr7:149432474-149432474;C/T missense_variant False ZNF718@p.S312L 1 0.37037037 ENSG00000250312 chr4:161620-161620;C/T missense_variant False ZNF721@p.G569A 1 0.184713376 ENSG00000182903 chr4:442725-442725;C/G missense_variant False ZNF721@p.G485V 1 0.209677419 ENSG00000182903 chr4:442977-442977;C/A missense_variant False ZNF721@p.E794D 1 0.146341463 ENSG00000182903 chr4:442049-442049;C/G missense_variant False ZNF721@p.E660K 1 0.362318841 ENSG00000182903 chr4:442453-442453;C/T missense_variant False ZNF721@p.E437K 1 0.436363636 ENSG00000182903 chr4:443122-443122;C/T missense_variant False ZNF71@p.G360S 1 0.164179104 ENSG00000197951 chr19:56622365-56622365;G/A missense_variant False ZNF718@p.R471I 1 0.315789474 ENSG00000250312 chr4:162097-162097;G/T missense_variant False ZNF721@p.N419D 1 0.132075472 ENSG00000182903 chr4:443176-443176;T/C missense_variant False ZNF718@p.R331T 1 0.655172414 ENSG00000250312 chr4:161677-161677;G/C missense_variant False ZNF718@p.R247I 1 0.511111111 ENSG00000250312 chr4:161425-161425;G/T missense_variant False ZNF718@p.R191S 1 0.097560976 ENSG00000250312 chr4:161258-161258;A/T missense_variant False ZNF718@p.F180Y 1 0.113636364 ENSG00000250312 chr4:161224-161224;T/A missense_variant False ZNF714@p.S354L 1 0.38028169 ENSG00000160352 chr19:21117725-21117725;C/T missense_variant False ZNF714@p.R464Q 1 0.413793103 ENSG00000160352 chr19:21118055-21118055;G/A missense_variant False ZNF721@p.K76R 1 0.382352941 ENSG00000182903 chr4:444204-444204;T/C missense_variant False ZNF721@p.Q65H 1 0.106382979 ENSG00000182903 chr4:444236-444236;C/G missense_variant False ZNF658@p.N251Kfs*3 1 0.488372093 ENSG00000274349 chr9:66918312-66918313;-/A frameshift_variant False ZNF749@p.S237P 1 0.097222222 ENSG00000186230 chr19:57443857-57443857;T/C missense_variant False ZNF750@p.E351K 1 0.271794872 ENSG00000141579 chr17:82831404-82831404;C/T missense_variant False ZNF750@p.E267Q 1 0.255952381 ENSG00000141579 chr17:82831656-82831656;C/G missense_variant False ZNF750@p.D303N 1 0.084337349 ENSG00000141579 chr17:82831548-82831548;C/T missense_variant False ZNF750@p.A623G 1 0.142857143 ENSG00000141579 chr17:82830446-82830446;G/C missense_variant False ZNF74@p.L292V 1 0.126315789 ENSG00000185252 chr22:20405907-20405907;C/G missense_variant False ZNF74@p.F472L 1 0.232876712 ENSG00000185252 chr22:20406449-20406449;C/G missense_variant False ZNF749@p.H546Q 1 0.303030303 ENSG00000186230 chr19:57444786-57444786;C/G missense_variant False ZNF721@p.R313K 1 0.060606061 ENSG00000182903 chr4:443493-443493;C/T missense_variant False ZNF749@p.E609K 1 0.134328358 ENSG00000186230 chr19:57444973-57444973;G/A missense_variant False ZNF749@p.E253K 1 0.14516129 ENSG00000186230 chr19:57443905-57443905;G/A missense_variant False ZNF746@p.I188M 1 0.5 ENSG00000181220 chr7:149477712-149477712;G/C missense_variant False ZNF746@p.E130K 1 0.236111111 ENSG00000181220 chr7:149494007-149494007;C/T missense_variant False ZNF746@p.A324S 1 0.53125 ENSG00000181220 chr7:149475349-149475349;C/A missense_variant False ZNF746@p.A206T 1 0.235294118 ENSG00000181220 chr7:149477660-149477660;C/T missense_variant False ZNF714@p.G197E 1 0.435185185 ENSG00000160352 chr19:21117254-21117254;G/A missense_variant False ZNF714@p.E456K 1 0.333333333 ENSG00000160352 chr19:21118030-21118030;G/A missense_variant False ZNF713@p.Y329C 1 0.336065574 ENSG00000178665 chr7:55939699-55939699;A/G missense_variant False ZNF708@p.E12K 1 0.222929936 ENSG00000182141 chr19:21310597-21310597;C/T missense_variant False ZNF70@p.I47M 1 0.061538462 ENSG00000187792 chr22:23745000-23745000;G/C missense_variant False ZNF70@p.E200Q 1 0.53125 ENSG00000187792 chr22:23744543-23744543;C/G missense_variant False ZNF709@p.S123C 1 0.378787879 ENSG00000242852 chr19:12465554-12465554;G/C missense_variant False ZNF709@p.R188I 1 0.494505495 ENSG00000242852 chr19:12465359-12465359;C/A missense_variant False ZNF709@p.N39K 1 0.290697674 ENSG00000242852 chr19:12466737-12466737;G/C missense_variant False ZNF709@p.E393K 1 0.08411215 ENSG00000242852 chr19:12464745-12464745;C/T missense_variant False ZNF705A@p.R97T 1 0.260416667 ENSG00000196946 chr12:8175914-8175914;G/C missense_variant False ZNF713@p.S258L 1 0.282608696 ENSG00000178665 chr7:55939486-55939486;C/T missense_variant False ZNF705A@p.G234W 1 0.459770115 ENSG00000196946 chr12:8177380-8177380;G/T missense_variant False ZNF704@p.R215Q 1 0.090909091 ENSG00000164684 chr8:80670518-80670518;C/T missense_variant False ZNF704@p.G209S 1 0.149758454 ENSG00000164684 chr8:80670537-80670537;C/T missense_variant False ZNF704@p.D165N 1 0.339449541 ENSG00000164684 chr8:80687291-80687291;C/T missense_variant False ZNF703@p.S583L 1 0.27027027 ENSG00000183779 chr8:37698649-37698649;C/T missense_variant False ZNF703@p.L63F 1 0.428571429 ENSG00000183779 chr8:37696166-37696166;C/T missense_variant False ZNF70@p.Q105E 1 0.361290323 ENSG00000187792 chr22:23744828-23744828;G/C missense_variant False ZNF70@p.R403Q 1 0.204918033 ENSG00000187792 chr22:23743933-23743933;C/T missense_variant False ZNF710@p.A659V 1 0.288461538 ENSG00000140548 chr15:90079810-90079810;C/T missense_variant False ZNF710@p.D272H 1 0.2 ENSG00000140548 chr15:90067951-90067951;G/C missense_variant False ZNF710@p.H425Rfs*63 1 0.481481481 ENSG00000140548 chr15:90068411-90068414;ACCT/- frameshift_variant False ZNF710@p.L650Hfs*2 1 0.13559322 ENSG00000140548 chr15:90079782-90079783;CT/- frameshift_variant False ZNF710@p.P322Q 1 0.263157895 ENSG00000140548 chr15:90068102-90068102;C/A missense_variant False ZNF710@p.R349Q 1 0.660714286 ENSG00000140548 chr15:90068183-90068183;G/A missense_variant False ZNF710@p.R508W 1 0.323529412 ENSG00000140548 chr15:90073134-90073134;C/T missense_variant False ZNF710@p.S29F 1 0.222222222 ENSG00000140548 chr15:90067223-90067223;C/T missense_variant False ZNF710@p.V516I 1 0.428571429 ENSG00000140548 chr15:90073158-90073158;G/A missense_variant False ZNF711@p.D191N 1 0.414634146 ENSG00000147180 chrX:85255750-85255750;G/A missense_variant False ZNF711@p.I186T 1 0.382352941 ENSG00000147180 chrX:85255736-85255736;T/C missense_variant False ZNF711@p.V87L 1 0.156462585 ENSG00000147180 chrX:85255438-85255438;G/T missense_variant False ZNF713@p.G152R 1 0.535714286 ENSG00000178665 chr7:55939167-55939167;G/A missense_variant False ZNF713@p.G251V 1 0.104477612 ENSG00000178665 chr7:55939465-55939465;G/T missense_variant False ZNF713@p.G251W 1 0.076923077 ENSG00000178665 chr7:55939464-55939464;G/T missense_variant False ZNF750@p.E351Q 1 0.115789474 ENSG00000141579 chr17:82831404-82831404;C/G missense_variant False ZNF750@p.E378K 1 0.177631579 ENSG00000141579 chr17:82831323-82831323;C/T missense_variant False ZNF750@p.E591Q 1 0.198275862 ENSG00000141579 chr17:82830543-82830543;C/G missense_variant False ZNF76@p.G493C 1 0.382978723 ENSG00000065029 chr6:35293898-35293898;G/T missense_variant False ZNF773@p.D261G 1 0.247524752 ENSG00000152439 chr19:57506877-57506877;A/G missense_variant False ZNF772@p.S70C 1 0.116504854 ENSG00000197128 chr19:57475137-57475137;G/C missense_variant False ZNF770@p.S147Y 1 0.425925926 ENSG00000198146 chr15:34982995-34982995;G/T missense_variant False ZNF770@p.N30S 1 0.333333333 ENSG00000198146 chr15:34983346-34983346;T/C missense_variant False ZNF770@p.K362T 1 0.363636364 ENSG00000198146 chr15:34982350-34982350;T/G missense_variant False ZNF770@p.D432G 1 0.52238806 ENSG00000198146 chr15:34982140-34982140;T/C missense_variant False ZNF76@p.D492N 1 0.205128205 ENSG00000065029 chr6:35293895-35293895;G/A missense_variant False ZNF768@p.E38K 1 0.175 ENSG00000169957 chr16:30526028-30526028;C/T missense_variant False ZNF76@p.A552V 1 0.266666667 ENSG00000065029 chr6:35295190-35295190;C/T missense_variant False ZNF768@p.V15Lfs*4 1 0.222222222 ENSG00000169957 chr16:30526362-30526371;AACTCTGCAC/- frameshift_variant False ZNF768@p.S497P 1 0.142857143 ENSG00000169957 chr16:30524651-30524651;A/G missense_variant False ZNF768@p.R309H 1 0.3875 ENSG00000169957 chr16:30525214-30525214;C/T missense_variant False ZNF768@p.R148I 1 0.2 ENSG00000169957 chr16:30525697-30525697;C/A missense_variant False ZNF768@p.M21I 1 0.304347826 ENSG00000169957 chr16:30526351-30526351;C/G missense_variant False ZNF773@p.E46D 1 0.117647059 ENSG00000152439 chr19:57504761-57504761;G/T missense_variant False ZNF773@p.G393W 1 0.09375 ENSG00000152439 chr19:57507272-57507272;G/T missense_variant False ZNF773@p.P124T 1 0.236842105 ENSG00000152439 chr19:57506465-57506465;C/A missense_variant False ZNF773@p.Q322H 1 0.454081633 ENSG00000152439 chr19:57507061-57507061;G/T missense_variant False ZNF773@p.W78C 1 0.12962963 ENSG00000152439 chr19:57505372-57505372;G/T missense_variant False ZNF774@p.E112V 1 0.4 ENSG00000196391 chr15:90360166-90360166;A/T missense_variant False ZNF774@p.E236K 1 0.5 ENSG00000196391 chr15:90360537-90360537;G/A missense_variant False ZNF774@p.E378K 1 0.421052632 ENSG00000196391 chr15:90360963-90360963;G/A missense_variant False ZNF774@p.F216L 1 0.666666667 ENSG00000196391 chr15:90360479-90360479;C/A missense_variant False ZNF774@p.W2S 1 0.454545455 ENSG00000196391 chr15:90354665-90354665;G/C missense_variant False ZNF776@p.E324K 1 0.429752066 ENSG00000152443 chr19:57754100-57754100;G/A missense_variant False ZNF776@p.E492Q 1 0.293577982 ENSG00000152443 chr19:57754604-57754604;G/C missense_variant False ZNF776@p.S51C 1 0.274193548 ENSG00000152443 chr19:57750903-57750903;C/G missense_variant False ZNF777@p.A751T 1 0.358024691 ENSG00000196453 chr7:149432021-149432021;C/T missense_variant False ZNF777@p.D350H 1 0.359550562 ENSG00000196453 chr7:149451038-149451038;C/G missense_variant False ZNF777@p.E483Q 1 0.304347826 ENSG00000196453 chr7:149432825-149432825;C/G missense_variant False ZNF777@p.E494Q 1 0.195121951 ENSG00000196453 chr7:149432792-149432792;C/G missense_variant False ZNF768@p.G313D 1 0.24 ENSG00000169957 chr16:30525202-30525202;C/T missense_variant False ZNF768@p.E145Q 1 0.331395349 ENSG00000169957 chr16:30525707-30525707;C/G missense_variant False ZNF750@p.K11N 1 0.431818182 ENSG00000141579 chr17:82832422-82832422;C/A missense_variant False ZNF75D@p.E248Q 1 0.08 ENSG00000186376 chrX:135291090-135291090;C/G missense_variant False ZNF75D@p.R375T 1 0.11627907 ENSG00000186376 chrX:135287546-135287546;C/G missense_variant False ZNF75D@p.Q214H 1 0.366666667 ENSG00000186376 chrX:135291526-135291526;C/G missense_variant False ZNF75D@p.Q207H 1 0.368421053 ENSG00000186376 chrX:135291547-135291547;C/G missense_variant False ZNF75D@p.F55Y 1 0.291666667 ENSG00000186376 chrX:135293977-135293977;A/T missense_variant False ZNF75D@p.E294K 1 0.119047619 ENSG00000186376 chrX:135287790-135287790;C/T missense_variant False ZNF75D@p.E28K 1 0.4375 ENSG00000186376 chrX:135294059-135294059;C/T missense_variant False ZNF75D@p.A2T 1 0.906666667 ENSG00000186376 chrX:135294137-135294137;C/T missense_variant False ZNF768@p.C518Y 1 0.229166667 ENSG00000169957 chr16:30524587-30524587;C/T missense_variant False ZNF75A@p.E270Q 1 0.184466019 ENSG00000162086 chr16:3317786-3317786;G/C missense_variant False ZNF750@p.Y431Vfs*29 1 0.185185185 ENSG00000141579 chr17:82831165-82831166;-/A frameshift_variant False ZNF750@p.P31S 1 0.88 ENSG00000141579 chr17:82832364-82832364;G/A missense_variant False ZNF750@p.L40V 1 0.515151515 ENSG00000141579 chr17:82832337-82832337;G/C missense_variant False ZNF750@p.K688N 1 0.273972603 ENSG00000141579 chr17:82830250-82830250;C/G missense_variant False ZNF750@p.K385T 1 0.535315985 ENSG00000141579 chr17:82831301-82831301;T/G missense_variant False ZNF761@p.D240N 1 0.273504274 ENSG00000160336 chr19:53455225-53455225;G/A missense_variant False ZNF761@p.E322K 1 0.202072539 ENSG00000160336 chr19:53455471-53455471;G/A missense_variant False ZNF761@p.E498Q 1 0.170731707 ENSG00000160336 chr19:53455999-53455999;G/C missense_variant False ZNF761@p.E575Q 1 0.102564103 ENSG00000160336 chr19:53456230-53456230;G/C missense_variant False ZNF761@p.E602K 1 0.206060606 ENSG00000160336 chr19:53456311-53456311;G/A missense_variant False ZNF761@p.F196L 1 0.290598291 ENSG00000160336 chr19:53455095-53455095;C/G missense_variant False ZNF761@p.G266S 1 0.396984925 ENSG00000160336 chr19:53455303-53455303;G/A missense_variant False ZNF761@p.L119F 1 0.257142857 ENSG00000160336 chr19:53454864-53454864;G/C missense_variant False ZNF761@p.Q155H 1 0.266233766 ENSG00000160336 chr19:53454972-53454972;G/C missense_variant False ZNF761@p.Q63E 1 0.113207547 ENSG00000160336 chr19:53454694-53454694;C/G missense_variant False ZNF761@p.R476H 1 0.436363636 ENSG00000160336 chr19:53455934-53455934;G/A missense_variant False ZNF761@p.R710T 1 0.5 ENSG00000160336 chr19:53456636-53456636;G/C missense_variant False ZNF764@p.K109N 1 0.466666667 ENSG00000169951 chr16:30556094-30556094;C/G missense_variant False ZNF764@p.K153R 1 0.122807018 ENSG00000169951 chr16:30555963-30555963;T/C missense_variant False ZNF764@p.P87L 1 0.136363636 ENSG00000169951 chr16:30557783-30557783;G/A missense_variant False ZNF765@p.F420L 1 0.358024691 ENSG00000196417 chr19:53408815-53408815;C/G missense_variant False ZNF765@p.R66T 1 0.405660377 ENSG00000196417 chr19:53407752-53407752;G/C missense_variant False ZNF701@p.R277T 1 0.25 ENSG00000167562 chr19:52582691-52582691;G/C missense_variant False ZNF701@p.E223K 1 0.494505495 ENSG00000167562 chr19:52582528-52582528;G/A missense_variant False ZNF701@p.E176K 1 0.087719298 ENSG00000167562 chr19:52582387-52582387;G/A missense_variant False ZNF670@p.E272Q 1 0.371794872 ENSG00000277462 chr1:247037805-247037805;C/G missense_variant False ZNF671@p.R24K 1 0.328571429 ENSG00000083814 chr19:57727458-57727458;C/T missense_variant False ZNF671@p.I495M 1 0.190140845 ENSG00000083814 chr19:57720601-57720601;G/C missense_variant False ZNF671@p.G195E 1 0.209386282 ENSG00000083814 chr19:57721502-57721502;C/T missense_variant False ZNF671@p.E40K 1 0.466666667 ENSG00000083814 chr19:57727411-57727411;C/T missense_variant False ZNF671@p.E143Q 1 0.119266055 ENSG00000083814 chr19:57721659-57721659;C/G missense_variant False ZNF671@p.D11H 1 0.176470588 ENSG00000083814 chr19:57727498-57727498;C/G missense_variant False ZNF669@p.D396N 1 0.060344828 ENSG00000188295 chr1:247100583-247100583;C/T missense_variant False ZNF667@p.N210K 1 0.095959596 ENSG00000198046 chr19:56442365-56442365;A/T missense_variant False ZNF668@p.S466L 1 0.205882353 ENSG00000167394 chr16:31061531-31061531;G/A missense_variant False ZNF668@p.R36Hfs*14 1 0.169014085 ENSG00000167394 chr16:31064334-31064355;GGCAGCGTGGCGCGCTGCCCTG/- frameshift_variant False ZNF668@p.R297H 1 0.183098592 ENSG00000167394 chr16:31062038-31062038;C/T missense_variant False ZNF668@p.F336L 1 0.269662921 ENSG00000167394 chr16:31061920-31061920;G/C missense_variant False ZNF668@p.C254Y 1 0.463414634 ENSG00000167394 chr16:31062167-31062167;C/T missense_variant False ZNF667@p.S86L 1 0.108108108 ENSG00000198046 chr19:56442738-56442738;G/A missense_variant False ZNF672@p.E399Q 1 0.333333333 ENSG00000171161 chr1:248848469-248848469;G/C missense_variant False ZNF672@p.P190R 1 0.269230769 ENSG00000171161 chr1:248847843-248847843;C/G missense_variant False ZNF674@p.E452D 1 0.083333333 ENSG00000251192 chrX:46500233-46500233;C/G missense_variant False ZNF674@p.R444K 1 0.634146341 ENSG00000251192 chrX:46500258-46500258;C/T missense_variant False ZNF674@p.S401C 1 0.25 ENSG00000251192 chrX:46500387-46500387;G/C missense_variant False ZNF675@p.C174Y 1 0.393939394 ENSG00000197372 chr19:23654412-23654412;C/T missense_variant False ZNF675@p.E203K 1 0.117647059 ENSG00000197372 chr19:23654326-23654326;C/T missense_variant False ZNF675@p.E427K 1 0.322033898 ENSG00000197372 chr19:23653654-23653654;C/T missense_variant False ZNF675@p.E69K 1 0.155339806 ENSG00000197372 chr19:23662135-23662135;C/T missense_variant False ZNF676@p.C106R 1 0.555555556 ENSG00000196109 chr19:22181497-22181497;A/G missense_variant False ZNF676@p.E170K 1 0.160583942 ENSG00000196109 chr19:22181305-22181305;C/T missense_variant False ZNF676@p.E484G 1 0.257352941 ENSG00000196109 chr19:22180362-22180362;T/C missense_variant False ZNF676@p.I418V 1 0.1015625 ENSG00000196109 chr19:22180561-22180561;T/C missense_variant False ZNF676@p.R162G 1 0.466101695 ENSG00000196109 chr19:22181329-22181329;T/C missense_variant False ZNF676@p.S381Y 1 0.226890756 ENSG00000196109 chr19:22180671-22180671;G/T missense_variant False ZNF676@p.S410L 1 0.054794521 ENSG00000196109 chr19:22180584-22180584;G/A missense_variant False ZNF677@p.E39Q 1 0.281690141 ENSG00000197928 chr19:53243798-53243798;C/G missense_variant False ZNF667@p.Q434H 1 0.14953271 ENSG00000198046 chr19:56441693-56441693;C/G missense_variant False ZNF667@p.G69W 1 0.13253012 ENSG00000198046 chr19:56458203-56458203;C/A missense_variant False ZNF677@p.L122F 1 0.395604396 ENSG00000197928 chr19:53238361-53238361;C/G missense_variant False ZNF662@p.E162Q 1 0.413793103 ENSG00000182983 chr3:42914557-42914557;G/C missense_variant False ZNF664@p.E168Q 1 0.301369863 ENSG00000179195 chr12:124012646-124012646;G/C missense_variant False ZNF662@p.S401Y 1 0.195652174 ENSG00000182983 chr3:42915275-42915275;C/A missense_variant False ZNF662@p.R380T 1 0.086956522 ENSG00000182983 chr3:42915212-42915212;G/C missense_variant False ZNF662@p.L55V 1 0.217948718 ENSG00000182983 chr3:42913212-42913212;C/G missense_variant False ZNF662@p.F191L 1 0.085365854 ENSG00000182983 chr3:42914646-42914646;C/G missense_variant False ZNF662@p.E217K 1 0.456140351 ENSG00000182983 chr3:42914722-42914722;G/A missense_variant False ZNF662@p.A318D 1 0.117647059 ENSG00000182983 chr3:42915026-42915026;C/A missense_variant False ZNF667@p.G477E 1 0.431506849 ENSG00000198046 chr19:56441565-56441565;C/T missense_variant False ZNF660@p.Q61H 1 0.25 ENSG00000144792 chr3:44594376-44594376;G/C missense_variant False ZNF660@p.I228M 1 0.469387755 ENSG00000144792 chr3:44594877-44594877;C/G missense_variant False ZNF660@p.E194Q 1 0.194805195 ENSG00000144792 chr3:44594773-44594773;G/C missense_variant False ZNF660@p.C83S 1 0.266666667 ENSG00000144792 chr3:44594441-44594441;G/C missense_variant False ZNF658@p.Q314E 1 0.133333333 ENSG00000274349 chr9:66918506-66918506;C/G missense_variant False ZNF658@p.P657H 1 0.1886121 ENSG00000274349 chr9:66919536-66919536;C/A missense_variant False ZNF664@p.S44L 1 0.201754386 ENSG00000179195 chr12:124012275-124012275;C/T missense_variant False ZNF664@p.V58F 1 0.771929825 ENSG00000179195 chr12:124012316-124012316;G/T missense_variant False ZNF665@p.D481N 1 0.671586716 ENSG00000197497 chr19:53164854-53164854;C/T missense_variant False ZNF665@p.E117K 1 0.415584416 ENSG00000197497 chr19:53165946-53165946;C/T missense_variant False ZNF665@p.E502D 1 0.135135135 ENSG00000197497 chr19:53164789-53164789;C/A missense_variant False ZNF665@p.F178L 1 0.395973154 ENSG00000197497 chr19:53165761-53165761;G/T missense_variant False ZNF665@p.H112Y 1 0.342342342 ENSG00000197497 chr19:53165961-53165961;G/A missense_variant False ZNF665@p.M49I 1 0.052980132 ENSG00000197497 chr19:53166148-53166148;C/A missense_variant False ZNF665@p.Q236E 1 0.30726257 ENSG00000197497 chr19:53165589-53165589;G/C missense_variant False ZNF665@p.Q272E 1 0.354330709 ENSG00000197497 chr19:53165481-53165481;G/C missense_variant False ZNF665@p.S182L 1 0.359550562 ENSG00000197497 chr19:53165750-53165750;G/A missense_variant False ZNF665@p.S416C 1 0.315068493 ENSG00000197497 chr19:53165048-53165048;G/C missense_variant False ZNF665@p.S546L 1 0.357142857 ENSG00000197497 chr19:53164658-53164658;G/A missense_variant False ZNF665@p.T575P 1 0.185840708 ENSG00000197497 chr19:53164572-53164572;T/G missense_variant False ZNF667@p.E201K 1 0.32718894 ENSG00000198046 chr19:56442394-56442394;C/T missense_variant False ZNF667@p.E40Q 1 0.470588235 ENSG00000198046 chr19:56460731-56460731;C/G missense_variant False ZNF667@p.E524Q 1 0.444444444 ENSG00000198046 chr19:56441425-56441425;C/G missense_variant False ZNF677@p.G343A 1 0.132075472 ENSG00000197928 chr19:53237699-53237699;C/G missense_variant False ZNF677@p.R131K 1 0.276470588 ENSG00000197928 chr19:53238335-53238335;C/T missense_variant False ZNF701@p.E169K 1 0.086419753 ENSG00000167562 chr19:52582366-52582366;G/A missense_variant False ZNF695@p.K455N 1 0.571428571 ENSG00000197472 chr1:246987150-246987150;C/G missense_variant False ZNF697@p.F477L 1 0.3125 ENSG00000143067 chr1:119622912-119622912;G/C missense_variant False ZNF696@p.E234Q 1 0.137931034 ENSG00000185730 chr8:143296375-143296375;G/C missense_variant False ZNF695@p.V104F 1 0.283018868 ENSG00000197472 chr1:246988205-246988205;C/A missense_variant False ZNF695@p.S304F 1 0.368421053 ENSG00000197472 chr1:246987604-246987604;G/A missense_variant False ZNF695@p.R204T 1 0.218181818 ENSG00000197472 chr1:246987904-246987904;C/G missense_variant False ZNF695@p.Q425E 1 0.407407407 ENSG00000197472 chr1:246987242-246987242;G/C missense_variant False ZNF695@p.K287N 1 0.391304348 ENSG00000197472 chr1:246987654-246987654;C/G missense_variant False ZNF689@p.S329Y 1 0.150684932 ENSG00000289491 chr16:30604781-30604781;G/T missense_variant False ZNF695@p.H262L 1 0.375 ENSG00000197472 chr1:246987730-246987730;T/A missense_variant False ZNF695@p.G358V 1 0.210526316 ENSG00000197472 chr1:246987442-246987442;C/A missense_variant False ZNF695@p.E243K 1 0.4 ENSG00000197472 chr1:246987788-246987788;C/T missense_variant False ZNF692@p.S162C 1 0.095744681 ENSG00000171163 chr1:248856553-248856553;G/C missense_variant False ZNF692@p.E458Q 1 0.361111111 ENSG00000171163 chr1:248850398-248850398;C/G missense_variant False ZNF691@p.R183C 1 0.130434783 ENSG00000164011 chr1:42851412-42851412;C/T missense_variant False ZNF697@p.L290Q 1 0.530612245 ENSG00000143067 chr1:119623474-119623474;A/T missense_variant False ZNF697@p.R114W 1 0.518518519 ENSG00000143067 chr1:119624003-119624003;G/A missense_variant False ZNF699@p.C421F 1 0.158730159 ENSG00000196110 chr19:9296142-9296142;C/A missense_variant False ZNF699@p.F266C 1 0.096774194 ENSG00000196110 chr19:9296607-9296607;A/C missense_variant False ZNF699@p.F596L 1 0.197368421 ENSG00000196110 chr19:9295616-9295616;G/C missense_variant False ZNF699@p.R45K 1 0.056338028 ENSG00000196110 chr19:9302419-9302419;C/T missense_variant False ZNF699@p.R631Q 1 0.451612903 ENSG00000196110 chr19:9295512-9295512;C/T missense_variant False ZNF699@p.S185L 1 0.217391304 ENSG00000196110 chr19:9296850-9296850;G/A missense_variant False ZNF699@p.S216F 1 0.108695652 ENSG00000196110 chr19:9296757-9296757;G/A missense_variant False ZNF699@p.S346Y 1 0.089285714 ENSG00000196110 chr19:9296367-9296367;G/T missense_variant False ZNF69@p.S120F 1 0.141221374 ENSG00000198429 chr19:11904756-11904756;C/T missense_variant False ZNF700@p.P121A 1 0.286432161 ENSG00000196757 chr19:11948385-11948385;C/G missense_variant False ZNF700@p.Q490E 1 0.64 ENSG00000196757 chr19:11949492-11949492;C/G missense_variant False ZNF700@p.R211T 1 0.340425532 ENSG00000196757 chr19:11948656-11948656;G/C missense_variant False ZNF700@p.R81T 1 0.235294118 ENSG00000196757 chr19:11947565-11947565;G/C missense_variant False ZNF700@p.S292Y 1 0.487179487 ENSG00000196757 chr19:11948899-11948899;C/A missense_variant False ZNF701@p.D398N 1 0.149659864 ENSG00000167562 chr19:52583053-52583053;G/A missense_variant False ZNF691@p.H105D 1 0.361111111 ENSG00000164011 chr1:42851178-42851178;C/G missense_variant False ZNF689@p.S146F 1 0.148514851 ENSG00000289491 chr16:30605330-30605330;G/A missense_variant False ZNF678@p.H119D 1 0.337662338 ENSG00000181450 chr1:227654605-227654605;C/G missense_variant False ZNF681@p.G125A 1 0.194444444 ENSG00000196172 chr19:23745176-23745176;C/G missense_variant False ZNF681@p.T270A 1 0.25 ENSG00000196172 chr19:23744742-23744742;T/C missense_variant False ZNF681@p.R250T 1 0.0625 ENSG00000196172 chr19:23744801-23744801;C/G missense_variant False ZNF681@p.R250I 1 0.404761905 ENSG00000196172 chr19:23744801-23744801;C/A missense_variant False ZNF681@p.P281S 1 0.46875 ENSG00000196172 chr19:23744709-23744709;G/A missense_variant False ZNF681@p.K497N 1 0.265822785 ENSG00000196172 chr19:23744059-23744059;C/G missense_variant False ZNF681@p.H556Y 1 0.301369863 ENSG00000196172 chr19:23743884-23743884;G/A missense_variant False ZNF681@p.D626N 1 0.5 ENSG00000196172 chr19:23743674-23743674;C/T missense_variant False ZNF689@p.D86N 1 0.12987013 ENSG00000289491 chr16:30609588-30609588;C/T missense_variant False ZNF680@p.K510T 1 0.242857143 ENSG00000173041 chr7:64521225-64521225;T/G missense_variant False ZNF680@p.K342N 1 0.412698413 ENSG00000173041 chr7:64521728-64521728;T/G missense_variant False ZNF680@p.H89D 1 0.4 ENSG00000173041 chr7:64522489-64522489;G/C missense_variant False ZNF680@p.D465N 1 0.35 ENSG00000173041 chr7:64521361-64521361;C/T missense_variant False ZNF678@p.R481T 1 0.222222222 ENSG00000181450 chr1:227655692-227655692;G/C missense_variant False ZNF678@p.R229T 1 0.152416357 ENSG00000181450 chr1:227654936-227654936;G/C missense_variant False ZNF682@p.C231R 1 0.419354839 ENSG00000197124 chr19:20006811-20006811;A/G missense_variant False ZNF682@p.G132V 1 0.405063291 ENSG00000197124 chr19:20007107-20007107;C/A missense_variant False ZNF682@p.L15V 1 0.292134831 ENSG00000197124 chr19:20024337-20024337;G/C missense_variant False ZNF683@p.F150L 1 0.260869565 ENSG00000176083 chr1:26365096-26365096;G/C missense_variant False ZNF683@p.R418C 1 0.134615385 ENSG00000176083 chr1:26361974-26361974;G/A missense_variant False ZNF683@p.S263F 1 0.526785714 ENSG00000176083 chr1:26364758-26364758;G/A missense_variant False ZNF684@p.E39K 1 0.234042553 ENSG00000117010 chr1:40540685-40540685;G/A missense_variant False ZNF684@p.H205Y 1 0.102272727 ENSG00000117010 chr1:40546936-40546936;C/T missense_variant False ZNF684@p.V262L 1 0.195652174 ENSG00000117010 chr1:40547107-40547107;G/T missense_variant False ZNF687@p.D10H 1 0.612107623 ENSG00000143373 chr1:151286319-151286319;G/C missense_variant False ZNF687@p.E927K 1 0.375 ENSG00000143373 chr1:151289822-151289822;G/A missense_variant False ZNF687@p.L273F 1 0.101123596 ENSG00000143373 chr1:151287108-151287108;C/T missense_variant False ZNF687@p.R455Q 1 0.487804878 ENSG00000143373 chr1:151287655-151287655;G/A missense_variant False ZNF687@p.R534H 1 0.216216216 ENSG00000143373 chr1:151287892-151287892;G/A missense_variant False ZNF687@p.S338C 1 0.23255814 ENSG00000143373 chr1:151287304-151287304;C/G missense_variant False ZNF687@p.S803C 1 0.106557377 ENSG00000143373 chr1:151289208-151289208;C/G missense_variant False ZNF689@p.A91T 1 0.2 ENSG00000289491 chr16:30609573-30609573;C/T missense_variant False ZNF226@p.S408C 1 0.413793103 ENSG00000167380 chr19:44176485-44176485;C/G missense_variant False ZNF226@p.S348L 1 0.608108108 ENSG00000167380 chr19:44176305-44176305;C/T missense_variant False ZNF226@p.R383Tfs*11 1 0.114754098 ENSG00000167380 chr19:44176407-44176408;AG/- frameshift_variant False XRCC2@p.H237R 1 0.478527607 ENSG00000196584 chr7:152648775-152648775;T/C missense_variant False XRCC4@p.R225Q 1 0.14893617 ENSG00000152422 chr5:83204850-83204850;G/A missense_variant False XRCC4@p.E231K 1 0.324324324 ENSG00000152422 chr5:83204867-83204867;G/A missense_variant False XRCC4@p.D157N 1 0.113402062 ENSG00000152422 chr5:83195923-83195923;G/A missense_variant False XRCC3@p.D188_T189dup 1 0.857142857 ENSG00000126215 chr14:103699571-103699572;-/GTGTCC inframe_insertion False XRCC2@p.L189Q 1 0.172131148 ENSG00000196584 chr7:152648919-152648919;A/T missense_variant False XRCC2@p.L146F 1 0.242424242 ENSG00000196584 chr7:152649047-152649047;C/G missense_variant False XRCC1@p.R310Q 1 0.121621622 ENSG00000073050 chr19:43552170-43552170;C/T missense_variant False XRCC5@p.E287Kfs*11 1 0.12 ENSG00000079246 chr2:216127589-216127589;A/- frameshift_variant False XRCC1@p.H150Y 1 0.081967213 ENSG00000073050 chr19:43553650-43553650;G/A missense_variant False XRCC1@p.E497K 1 0.139130435 ENSG00000073050 chr19:43545950-43545950;C/T missense_variant False XRCC1@p.E424K 1 0.183098592 ENSG00000073050 chr19:43546907-43546907;C/T missense_variant False XPR1@p.V389G 1 0.153225806 ENSG00000143324 chr1:180834905-180834905;T/G missense_variant False XPR1@p.R211K 1 0.141304348 ENSG00000143324 chr1:180806508-180806508;G/A missense_variant False XPR1@p.P348S 1 0.552884615 ENSG00000143324 chr1:180825252-180825252;C/T missense_variant False XRCC4@p.R272S 1 0.461538462 ENSG00000152422 chr5:83258600-83258600;G/C missense_variant False XRCC5@p.T277A 1 0.184615385 ENSG00000079246 chr2:216127566-216127566;A/G missense_variant False YIPF5@p.D20N 1 0.593333333 ENSG00000145817 chr5:144169898-144169898;C/T missense_variant False XRN1@p.R1464Gfs*6 1 0.313432836 ENSG00000114127 chr3:142329453-142329455;GAG/AA frameshift_variant False XRN2@p.G914W 1 0.105263158 ENSG00000088930 chr20:21386959-21386959;G/T missense_variant False XRN2@p.F255L 1 0.105263158 ENSG00000088930 chr20:21332347-21332347;C/G missense_variant False XRN2@p.A109G 1 0.1 ENSG00000088930 chr20:21328569-21328569;C/G missense_variant False XRN1@p.T1153I 1 0.279069767 ENSG00000114127 chr3:142359868-142359868;G/A missense_variant False XRN1@p.R255T 1 0.082568807 ENSG00000114127 chr3:142422869-142422869;C/G missense_variant False XRN1@p.R1690K 1 0.397727273 ENSG00000114127 chr3:142311563-142311563;C/T missense_variant False XRN1@p.R1391K 1 0.210526316 ENSG00000114127 chr3:142332422-142332422;C/T missense_variant False XRCC6@p.P284S 1 0.103571429 ENSG00000196419 chr22:41646972-41646972;C/T missense_variant False XRN1@p.L711R 1 0.386666667 ENSG00000114127 chr3:142400519-142400519;A/C missense_variant False XRN1@p.I569V 1 0.3875 ENSG00000114127 chr3:142412552-142412552;T/C missense_variant False XRN1@p.H946Y 1 0.074074074 ENSG00000114127 chr3:142375940-142375940;G/A missense_variant False XRN1@p.D30H 1 0.175438596 ENSG00000114127 chr3:142432881-142432881;C/G missense_variant False XRN1@p.D274N 1 0.138888889 ENSG00000114127 chr3:142422729-142422729;C/T missense_variant False XRCC6@p.R247H 1 0.40625 ENSG00000196419 chr22:41637758-41637758;G/A missense_variant False XPR1@p.H499D 1 0.049079755 ENSG00000143324 chr1:180836710-180836710;C/G missense_variant False XPR1@p.F115L 1 0.204918033 ENSG00000143324 chr1:180803509-180803509;C/A missense_variant False XPR1@p.D164H 1 0.239130435 ENSG00000143324 chr1:180806104-180806104;G/C missense_variant False XPO6@p.D364N 1 0.085714286 ENSG00000169180 chr16:28156081-28156081;C/T missense_variant False XPO6@p.R168W 1 0.2 ENSG00000169180 chr16:28169813-28169813;G/A missense_variant False XPO6@p.L262M 1 0.184210526 ENSG00000169180 chr16:28156387-28156387;G/T missense_variant False XPO6@p.K701R 1 0.34375 ENSG00000169180 chr16:28112953-28112953;T/C missense_variant False XPO6@p.H643Y 1 0.164893617 ENSG00000169180 chr16:28117395-28117395;G/A missense_variant False XPO6@p.G413R 1 0.07 ENSG00000169180 chr16:28146191-28146191;C/G missense_variant False XPO6@p.F130L 1 0.0625 ENSG00000169180 chr16:28175913-28175913;A/T missense_variant False XPO6@p.A936T 1 0.24137931 ENSG00000169180 chr16:28104686-28104686;C/T missense_variant False XPR1@p.A78T 1 0.133333333 ENSG00000143324 chr1:180803396-180803396;G/A missense_variant False XPO5@p.M506I 1 0.2 ENSG00000124571 chr6:43553427-43553427;C/T missense_variant False XPO5@p.E945K 1 0.43902439 ENSG00000124571 chr6:43527721-43527721;C/T missense_variant False XPO5@p.E943K 1 0.271428571 ENSG00000124571 chr6:43527727-43527727;C/T missense_variant False XPO5@p.E909K 1 0.291666667 ENSG00000124571 chr6:43528878-43528878;C/T missense_variant False XPO5@p.D530H 1 0.472972973 ENSG00000124571 chr6:43551438-43551438;C/G missense_variant False XPO5@p.D4H 1 0.116959064 ENSG00000124571 chr6:43575855-43575855;C/G missense_variant False XPO6@p.T131A 1 0.469387755 ENSG00000169180 chr16:28175912-28175912;T/C missense_variant False XPO6@p.T422M 1 0.461538462 ENSG00000169180 chr16:28146163-28146163;G/A missense_variant False XPO7@p.D85N 1 0.529411765 ENSG00000130227 chr8:21969570-21969570;G/A missense_variant False XPO7@p.E371Q 1 0.1875 ENSG00000130227 chr8:21982646-21982646;G/C missense_variant False XPO7@p.K956N 1 0.242424242 ENSG00000130227 chr8:22002197-22002197;G/C missense_variant False XPO7@p.R558H 1 0.577777778 ENSG00000130227 chr8:21987236-21987236;G/A missense_variant False XPO7@p.R663L 1 0.328767123 ENSG00000130227 chr8:21990866-21990866;G/T missense_variant False XPO7@p.R674C 1 0.111111111 ENSG00000130227 chr8:21990898-21990898;C/T missense_variant False XPOT@p.D342G 1 0.397058824 ENSG00000184575 chr12:64421416-64421416;A/G missense_variant False XPOT@p.D529N 1 0.108303249 ENSG00000184575 chr12:64425827-64425827;G/A missense_variant False XPOT@p.E200K 1 0.155555556 ENSG00000184575 chr12:64420178-64420178;G/A missense_variant False XPOT@p.E774Q 1 0.539473684 ENSG00000184575 chr12:64433471-64433471;G/C missense_variant False XPOT@p.E914K 1 0.12345679 ENSG00000184575 chr12:64439250-64439250;G/A missense_variant False XPOT@p.R710Q 1 0.224137931 ENSG00000184575 chr12:64431690-64431690;G/A missense_variant False XPOT@p.S214C 1 0.065789474 ENSG00000184575 chr12:64420221-64420221;C/G missense_variant False XPOT@p.S307G 1 0.223744292 ENSG00000184575 chr12:64421310-64421310;A/G missense_variant False XPR1@p.A229T 1 0.5 ENSG00000143324 chr1:180811410-180811410;G/A missense_variant False XRN2@p.I208M 1 0.434782609 ENSG00000088930 chr20:21331608-21331608;C/G missense_variant False XRN2@p.P874S 1 0.176470588 ENSG00000088930 chr20:21382029-21382029;C/T missense_variant False XRN2@p.R108C 1 0.210526316 ENSG00000088930 chr20:21328565-21328565;C/T missense_variant False YEATS2@p.G828E 1 0.354166667 ENSG00000163872 chr3:183776029-183776029;G/A missense_variant False YEATS4@p.K64N 1 0.221374046 ENSG00000127337 chr12:69365653-69365653;G/T missense_variant False YEATS2@p.S451Y 1 0.217391304 ENSG00000163872 chr3:183754327-183754327;C/A missense_variant False YEATS2@p.S202L 1 0.1 ENSG00000163872 chr3:183724486-183724486;C/T missense_variant False YEATS2@p.S118L 1 0.128 ENSG00000163872 chr3:183721952-183721952;C/T missense_variant False YEATS2@p.P360S 1 0.34965035 ENSG00000163872 chr3:183752181-183752181;C/T missense_variant False YEATS2@p.I46M 1 0.264705882 ENSG00000163872 chr3:183717688-183717688;C/G missense_variant False YEATS2@p.G812V 1 0.119402985 ENSG00000163872 chr3:183775981-183775981;G/T missense_variant False YARS2@p.S33L 1 0.194029851 ENSG00000139131 chr12:32755777-32755777;G/A missense_variant False YEATS2@p.E1112K 1 0.072463768 ENSG00000163872 chr3:183800474-183800474;G/A missense_variant False YEATS2@p.D199N 1 0.257142857 ENSG00000163872 chr3:183724476-183724476;G/A missense_variant False YBX3@p.N343D 1 0.3 ENSG00000060138 chr12:10701986-10701986;T/C missense_variant False YBX3@p.D173Y 1 0.394736842 ENSG00000060138 chr12:10713267-10713267;C/A missense_variant False YBX2@p.R178C 1 0.166666667 ENSG00000006047 chr17:7290463-7290463;G/A missense_variant False YBX1@p.E293K 1 0.108108108 ENSG00000065978 chr1:42700917-42700917;G/A missense_variant False YES1@p.L357F 1 0.566666667 ENSG00000176105 chr18:739801-739801;T/G missense_variant False YES1@p.R17T 1 0.051948052 ENSG00000176105 chr18:756778-756778;C/G missense_variant False YES1@p.R274Q 1 0.429906542 ENSG00000176105 chr18:743319-743319;C/T missense_variant False YES1@p.S75C 1 0.082568807 ENSG00000176105 chr18:756604-756604;G/C missense_variant False YES1@p.Y489C 1 0.266666667 ENSG00000176105 chr18:724590-724590;T/C missense_variant False YIF1B@p.E94K 1 0.235294118 ENSG00000167645 chr19:38309422-38309422;C/T missense_variant False YIF1B@p.R122I 1 0.228985507 ENSG00000167645 chr19:38309261-38309261;C/A missense_variant False YIPF1@p.D5H 1 0.084745763 ENSG00000058799 chr1:53888925-53888925;C/G missense_variant False YIPF1@p.I201M 1 0.273809524 ENSG00000058799 chr1:53866803-53866803;A/C missense_variant False YIPF1@p.R186T 1 0.444444444 ENSG00000058799 chr1:53866849-53866849;C/G missense_variant False YIPF1@p.S18F 1 0.179487179 ENSG00000058799 chr1:53883255-53883255;G/A missense_variant False YIPF2@p.D120Y 1 0.117647059 ENSG00000130733 chr19:10925695-10925695;C/A missense_variant False YIPF2@p.F281L 1 0.330508475 ENSG00000130733 chr19:10923399-10923399;G/C missense_variant False YIPF3@p.E48Q 1 0.092592593 ENSG00000137207 chr6:43516035-43516035;C/G missense_variant False YIPF3@p.K341I 1 0.243243243 ENSG00000137207 chr6:43512198-43512198;T/A missense_variant False YIPF3@p.L163V 1 0.131147541 ENSG00000137207 chr6:43513406-43513406;G/C missense_variant False YIPF3@p.N144S 1 0.46031746 ENSG00000137207 chr6:43513598-43513598;T/C missense_variant False YBEY@p.H122Y 1 0.25 ENSG00000182362 chr21:46296186-46296186;C/T missense_variant False YARS2@p.P327L 1 0.460526316 ENSG00000139131 chr12:32750842-32750842;G/A missense_variant False XRN2@p.R659Q 1 0.195121951 ENSG00000088930 chr20:21354828-21354828;G/A missense_variant False XYLB@p.S284L 1 0.589285714 ENSG00000093217 chr3:38374465-38374465;C/T missense_variant False XYLT1@p.R235T 1 0.217252396 ENSG00000103489 chr16:17259197-17259197;C/G missense_variant False XYLT1@p.F532L 1 0.230769231 ENSG00000103489 chr16:17138523-17138523;G/C missense_variant False XYLT1@p.D745N 1 0.191780822 ENSG00000103489 chr16:17117970-17117970;C/T missense_variant False XYLT1@p.D547Y 1 0.111111111 ENSG00000103489 chr16:17138480-17138480;C/A missense_variant False XYLT1@p.A708S 1 0.111111111 ENSG00000103489 chr16:17127767-17127767;C/A missense_variant False XYLB@p.S87F 1 0.175 ENSG00000093217 chr3:38362986-38362986;C/T missense_variant False XYLB@p.H53D 1 0.481308411 ENSG00000093217 chr3:38360355-38360355;C/G missense_variant False YARS2@p.P299S 1 0.324324324 ENSG00000139131 chr12:32753970-32753970;G/A missense_variant False XYLB@p.H444Y 1 0.346938776 ENSG00000093217 chr3:38395543-38395543;C/T missense_variant False XXYLT1@p.V379I 1 0.110169492 ENSG00000173950 chr3:195069762-195069762;C/T missense_variant False XXYLT1@p.R255W 1 0.2 ENSG00000173950 chr3:195156471-195156471;G/A missense_variant False XXYLT1@p.H140D 1 0.416666667 ENSG00000173950 chr3:195270641-195270641;G/C missense_variant False XRRA1@p.H441L 1 0.191489362 ENSG00000166435 chr11:74851122-74851122;T/A missense_variant False XRRA1@p.E583K 1 0.346153846 ENSG00000166435 chr11:74845229-74845229;C/T missense_variant False XYLT1@p.R754H 1 0.117647059 ENSG00000103489 chr16:17117942-17117942;C/T missense_variant False XYLT2@p.E148Q 1 0.15 ENSG00000015532 chr17:50353936-50353936;G/C missense_variant False XYLT2@p.G149V 1 0.25 ENSG00000015532 chr17:50353940-50353940;G/T missense_variant False YAE1@p.E190Q 1 0.087378641 ENSG00000241127 chr7:39572593-39572593;G/C missense_variant False YAE1@p.K173N 1 0.109489051 ENSG00000241127 chr7:39572544-39572544;G/C missense_variant False YAE1@p.R187K 1 0.093333333 ENSG00000241127 chr7:39572585-39572585;G/A missense_variant False YAF2@p.S174L 1 0.6 ENSG00000015153 chr12:42160611-42160611;G/A missense_variant False YAP1@p.G135E 1 0.449275362 ENSG00000137693 chr11:102114226-102114226;G/A missense_variant False YAP1@p.L501F 1 0.132183908 ENSG00000137693 chr11:102229926-102229926;C/T missense_variant False YAP1@p.R319Q 1 0.098039216 ENSG00000137693 chr11:102206046-102206046;G/A missense_variant False YARS1@p.D61H 1 0.339285714 ENSG00000134684 chr1:32810934-32810934;C/G missense_variant False YARS1@p.L210V 1 0.072463768 ENSG00000134684 chr1:32791218-32791218;G/C missense_variant False YARS1@p.M431I 1 0.125 ENSG00000134684 chr1:32780126-32780126;C/A missense_variant False YARS1@p.R450H 1 0.277777778 ENSG00000134684 chr1:32779509-32779509;C/T missense_variant False YARS2@p.F48L 1 0.4375 ENSG00000139131 chr12:32755731-32755731;G/C missense_variant False YARS2@p.F51L 1 0.447470817 ENSG00000139131 chr12:32755722-32755722;G/T missense_variant False YARS2@p.L39R 1 0.282442748 ENSG00000139131 chr12:32755759-32755759;A/C missense_variant False XPO5@p.D342H 1 0.168539326 ENSG00000124571 chr6:43560995-43560995;C/G missense_variant False XPO4@p.G871V 1 0.098039216 ENSG00000132953 chr13:20796768-20796768;C/A missense_variant False XPO4@p.G674D 1 0.483870968 ENSG00000132953 chr13:20800282-20800282;C/T missense_variant False XIRP1@p.S1599L 1 0.191304348 ENSG00000168334 chr3:39184650-39184650;G/A missense_variant False XIRP2@p.D2177N 1 0.262886598 ENSG00000163092 chr2:167248446-167248446;G/A missense_variant False XIRP2@p.D1934N 1 0.79245283 ENSG00000163092 chr2:167247717-167247717;G/A missense_variant False XIRP2@p.D1133N 1 0.153846154 ENSG00000163092 chr2:167245314-167245314;G/A missense_variant False XIRP2@p.A1695T 1 0.307692308 ENSG00000163092 chr2:167247000-167247000;G/A missense_variant False XIRP1@p.V693M 1 0.142857143 ENSG00000168334 chr3:39187369-39187369;C/T missense_variant False XIRP1@p.S268Y 1 0.203389831 ENSG00000168334 chr3:39188643-39188643;G/T missense_variant False XIRP1@p.S1562F 1 0.608695652 ENSG00000168334 chr3:39184761-39184761;G/A missense_variant False XIRP1@p.D1693N 1 0.642857143 ENSG00000168334 chr3:39184369-39184369;C/T missense_variant False XIRP1@p.Q996E 1 0.158878505 ENSG00000168334 chr3:39186460-39186460;G/C missense_variant False XIRP1@p.G788E 1 0.5 ENSG00000168334 chr3:39187083-39187083;C/T missense_variant False XIRP1@p.E826Sfs*31 1 0.133333333 ENSG00000168334 chr3:39186959-39186971;CCTGGGAAGTTCA/- frameshift_variant False XIRP1@p.E362Q 1 0.34375 ENSG00000168334 chr3:39188362-39188362;C/G missense_variant False XIRP1@p.E350Q 1 0.32278481 ENSG00000168334 chr3:39188398-39188398;C/G missense_variant False XIRP1@p.E220Q 1 0.2875 ENSG00000168334 chr3:39188788-39188788;C/G missense_variant False XIRP2@p.E1069K 1 0.142857143 ENSG00000163092 chr2:167245122-167245122;G/A missense_variant False XIRP2@p.E1158Q 1 0.14084507 ENSG00000163092 chr2:167245389-167245389;G/C missense_variant False XIRP2@p.E1340D 1 0.380952381 ENSG00000163092 chr2:167245937-167245937;A/C missense_variant False XIRP2@p.E1508K 1 0.195121951 ENSG00000163092 chr2:167246439-167246439;G/A missense_variant False XIRP2@p.E192Q 1 0.247311828 ENSG00000163092 chr2:167241833-167241833;G/C missense_variant False XIRP2@p.E195Q 1 0.231578947 ENSG00000163092 chr2:167241842-167241842;G/C missense_variant False XIRP2@p.E2104K 1 0.279069767 ENSG00000163092 chr2:167248227-167248227;G/A missense_variant False XIRP2@p.E2130K 1 0.166666667 ENSG00000163092 chr2:167248305-167248305;G/A missense_variant False XIRP2@p.E2157Q 1 0.314814815 ENSG00000163092 chr2:167248386-167248386;G/C missense_variant False XIRP2@p.E2381Q 1 0.14084507 ENSG00000163092 chr2:167249058-167249058;G/C missense_variant False XIRP2@p.E2777Q 1 0.214285714 ENSG00000163092 chr2:167250246-167250246;G/C missense_variant False XIRP2@p.E3242K 1 0.35106383 ENSG00000163092 chr2:167251641-167251641;G/A missense_variant False XIRP2@p.E969K 1 0.072164948 ENSG00000163092 chr2:167244822-167244822;G/A missense_variant False XIRP2@p.F2751L 1 0.243902439 ENSG00000163092 chr2:167250170-167250170;C/G missense_variant False XIRP2@p.G2331E 1 0.102564103 ENSG00000163092 chr2:167248909-167248909;G/A missense_variant False XIRP2@p.G23E 1 0.165745856 ENSG00000163092 chr2:167210765-167210765;G/A missense_variant False XIRP2@p.G768A 1 0.463768116 ENSG00000163092 chr2:167244220-167244220;G/C missense_variant False XIRP1@p.E1602Q 1 0.512087912 ENSG00000168334 chr3:39184642-39184642;C/G missense_variant False XIRP1@p.A1708T 1 0.145454545 ENSG00000168334 chr3:39184324-39184324;C/T missense_variant False XIRP2@p.H789Q 1 0.333333333 ENSG00000163092 chr2:167244284-167244284;T/G missense_variant False XAB2@p.F33L 1 0.396551724 ENSG00000076924 chr19:7628251-7628251;G/T missense_variant False XAGE2@p.E83K 1 0.146428571 ENSG00000155622 chrX:52372603-52372603;G/A missense_variant False XAGE2@p.E37Q 1 0.849315068 ENSG00000155622 chrX:52370594-52370594;G/C missense_variant False XAF1@p.I151M 1 0.137254902 ENSG00000132530 chr17:6762186-6762186;C/G missense_variant False XAF1@p.E72Q 1 0.177419355 ENSG00000132530 chr17:6759707-6759707;G/C missense_variant False XAF1@p.E2K 1 0.658227848 ENSG00000132530 chr17:6756082-6756082;G/A missense_variant False XAB2@p.T379A 1 0.441176471 ENSG00000076924 chr19:7623274-7623274;T/C missense_variant False XAB2@p.E722Q 1 0.088235294 ENSG00000076924 chr19:7620377-7620377;C/G missense_variant False XIAP@p.Q199H 1 0.702702703 ENSG00000101966 chrX:123886259-123886259;G/T missense_variant False WWTR1@p.Q233H 1 0.192307692 ENSG00000018408 chr3:149542407-149542407;C/G missense_variant False WWTR1@p.Q179H 1 0.672131148 ENSG00000018408 chr3:149572895-149572895;C/G missense_variant False WWTR1@p.M348I 1 0.322580645 ENSG00000018408 chr3:149520964-149520964;C/T missense_variant False WWTR1@p.M288I 1 0.061068702 ENSG00000018408 chr3:149527877-149527877;C/T missense_variant False WWTR1@p.F360L 1 0.169491525 ENSG00000018408 chr3:149520928-149520928;G/C missense_variant False WWP2@p.S595F 1 0.443113772 ENSG00000198373 chr16:69934071-69934071;C/T missense_variant False XAGE2@p.K51N 1 0.066433566 ENSG00000155622 chrX:52370638-52370638;G/C missense_variant False XAGE3@p.Q75E 1 0.833333333 ENSG00000171402 chrX:52864865-52864865;G/C missense_variant False XAGE5@p.E69K 1 0.976744186 ENSG00000171405 chrX:52815118-52815118;G/A missense_variant False XAGE5@p.Y8N 1 0.566371681 ENSG00000171405 chrX:52812588-52812588;T/A missense_variant False XBP1@p.E129Q 1 0.125 ENSG00000100219 chr22:28797145-28797145;C/G missense_variant False XBP1@p.R136Lfs*12 1 0.166666667 ENSG00000100219 chr22:28797099-28797123;GCAACCAGGGCATCCATCCCCAAGC/- frameshift_variant False XBP1@p.S217L 1 0.211267606 ENSG00000100219 chr22:28795682-28795682;G/A missense_variant False XCL2@p.E25K 1 0.686046512 ENSG00000143185 chr1:168542096-168542096;C/T missense_variant False XCR1@p.F194L 1 0.24137931 ENSG00000173578 chr3:46021366-46021366;G/T missense_variant False XDH@p.G665R 1 0.285714286 ENSG00000158125 chr2:31368648-31368648;C/T missense_variant False XDH@p.P598A 1 0.217125382 ENSG00000158125 chr2:31372292-31372292;G/C missense_variant False XDH@p.Q876H 1 0.3125 ENSG00000158125 chr2:31364161-31364161;C/G missense_variant False XDH@p.R104T 1 0.325 ENSG00000158125 chr2:31398695-31398695;C/G missense_variant False XDH@p.R1223H 1 0.393617021 ENSG00000158125 chr2:31339595-31339595;C/T missense_variant False XDH@p.R1283P 1 0.301886792 ENSG00000158125 chr2:31337744-31337744;C/G missense_variant False XG@p.V144M 1 0.522727273 ENSG00000124343 chrX:2811356-2811356;G/A missense_variant False XIAP@p.H67Y 1 0.623762376 ENSG00000101966 chrX:123885861-123885861;C/T missense_variant False XIRP2@p.H2587N 1 0.47761194 ENSG00000163092 chr2:167249676-167249676;C/A missense_variant False XIRP2@p.I1770Kfs*8 1 0.184210526 ENSG00000163092 chr2:167247226-167247226;T/- frameshift_variant False XPO4@p.F41L 1 0.031468531 ENSG00000132953 chr13:20868648-20868648;G/C missense_variant False XKRX@p.N297K 1 0.052631579 ENSG00000182489 chrX:100914797-100914797;A/T missense_variant False XPC@p.P103Q 1 0.067307692 ENSG00000154767 chr3:14170542-14170542;G/T missense_variant False XPC@p.L157V 1 0.142857143 ENSG00000154767 chr3:14168324-14168324;G/C missense_variant False XPC@p.D580Y 1 0.095238095 ENSG00000154767 chr3:14158145-14158145;C/A missense_variant False XPC@p.D105H 1 0.033834586 ENSG00000154767 chr3:14170537-14170537;C/G missense_variant False XPA@p.E10K 1 0.523809524 ENSG00000136936 chr9:97697265-97697265;C/T missense_variant False XKRX@p.P182S 1 0.336956522 ENSG00000182489 chrX:100922853-100922853;G/A missense_variant False XKRX@p.M117I 1 0.553191489 ENSG00000182489 chrX:100923046-100923046;C/T missense_variant False XKR7@p.R514H 1 0.157894737 ENSG00000260903 chr20:31997258-31997258;G/A missense_variant False XKRX@p.H156Y 1 0.217821782 ENSG00000182489 chrX:100922931-100922931;G/A missense_variant False XKR9@p.Q37R 1 0.272206304 ENSG00000221947 chr8:70681168-70681168;A/G missense_variant False XKR9@p.L155V 1 0.086956522 ENSG00000221947 chr8:70707123-70707123;C/G missense_variant False XKR8@p.H306Y 1 0.095238095 ENSG00000158156 chr1:27966928-27966928;C/T missense_variant False XKR8@p.E113Q 1 0.108108108 ENSG00000158156 chr1:27963540-27963540;G/C missense_variant False XKR7@p.V323I 1 0.540983607 ENSG00000260903 chr20:31996684-31996684;G/A missense_variant False XPC@p.S804F 1 0.072463768 ENSG00000154767 chr3:14148571-14148571;G/A missense_variant False XPNPEP1@p.Q462E 1 0.153846154 ENSG00000108039 chr10:109875535-109875535;G/C missense_variant False XPNPEP2@p.E195K 1 0.96875 ENSG00000122121 chrX:129747699-129747699;G/A missense_variant False XPNPEP2@p.G151A 1 0.093023256 ENSG00000122121 chrX:129746643-129746643;G/C missense_variant False XPNPEP3@p.M387L 1 0.337386018 ENSG00000196236 chr22:40922436-40922436;A/T missense_variant False XPNPEP3@p.Q482E 1 0.335078534 ENSG00000196236 chr22:40926355-40926355;C/G missense_variant False XPO1@p.E1037Q 1 0.530973451 ENSG00000082898 chr2:61478927-61478927;C/G missense_variant False XPO1@p.E361K 1 0.1 ENSG00000082898 chr2:61494058-61494058;C/T missense_variant False XPO1@p.E529K 1 0.131578947 ENSG00000082898 chr2:61492463-61492463;C/T missense_variant False XPO1@p.E828K 1 0.083333333 ENSG00000082898 chr2:61485794-61485794;C/T missense_variant False XPO1@p.Q185H 1 0.47826087 ENSG00000082898 chr2:61499748-61499748;C/G missense_variant False XPO1@p.Q916E 1 0.27972028 ENSG00000082898 chr2:61483023-61483023;G/C missense_variant False XPO4@p.D470N 1 0.285714286 ENSG00000132953 chr13:20809168-20809168;C/T missense_variant False XPO4@p.E1138Q 1 0.246753247 ENSG00000132953 chr13:20783766-20783766;C/G missense_variant False XPO4@p.E38K 1 0.42 ENSG00000132953 chr13:20868659-20868659;C/T missense_variant False XPO4@p.E38Q 1 0.324444444 ENSG00000132953 chr13:20868659-20868659;C/G missense_variant False XPO4@p.E817K 1 0.211111111 ENSG00000132953 chr13:20796931-20796931;C/T missense_variant False XKR7@p.R529G 1 0.389473684 ENSG00000260903 chr20:31997302-31997302;C/G missense_variant False XKR7@p.E574K 1 0.093457944 ENSG00000260903 chr20:31997437-31997437;G/A missense_variant False XIRP2@p.I2500V 1 0.107692308 ENSG00000163092 chr2:167249415-167249415;A/G missense_variant False XIRP2@p.N876Ifs*7 1 0.083333333 ENSG00000163092 chr2:167244542-167244549;AAATGTGA/- frameshift_variant False XIRP2@p.S2424A 1 0.495726496 ENSG00000163092 chr2:167249187-167249187;T/G missense_variant False XIRP2@p.S1872C 1 0.292682927 ENSG00000163092 chr2:167247532-167247532;C/G missense_variant False XIRP2@p.R9C 1 0.408450704 ENSG00000163092 chr2:167136050-167136050;C/T missense_variant False XIRP2@p.R2489G 1 0.303370787 ENSG00000163092 chr2:167249382-167249382;A/G missense_variant False XIRP2@p.Q1057H 1 0.139534884 ENSG00000163092 chr2:167245088-167245088;G/C missense_variant False XIRP2@p.P1988L 1 0.329268293 ENSG00000163092 chr2:167247880-167247880;C/T missense_variant False XIRP2@p.N2964K 1 0.163265306 ENSG00000163092 chr2:167250809-167250809;C/G missense_variant False XKR7@p.D115N 1 0.421052632 ENSG00000260903 chr20:31968518-31968518;G/A missense_variant False XIRP2@p.L577V 1 0.114583333 ENSG00000163092 chr2:167243646-167243646;C/G missense_variant False XIRP2@p.L454R 1 0.4 ENSG00000163092 chr2:167243278-167243278;T/G missense_variant False XIRP2@p.L2271M 1 0.383333333 ENSG00000163092 chr2:167248728-167248728;C/A missense_variant False XIRP2@p.L1738M 1 0.086956522 ENSG00000163092 chr2:167247129-167247129;C/A missense_variant False XIRP2@p.K1499T 1 0.245614035 ENSG00000163092 chr2:167246413-167246413;A/C missense_variant False XIRP2@p.I2951M 1 0.168224299 ENSG00000163092 chr2:167250770-167250770;A/G missense_variant False XIRP2@p.S2967P 1 0.15 ENSG00000163092 chr2:167250816-167250816;T/C missense_variant False XIRP2@p.S3215C 1 0.608247423 ENSG00000163092 chr2:167251561-167251561;C/G missense_variant False XIRP2@p.S64C 1 0.195121951 ENSG00000163092 chr2:167210888-167210888;C/G missense_variant False XIRP2@p.S903R 1 0.279069767 ENSG00000163092 chr2:167244626-167244626;T/A missense_variant False XIRP2@p.T1200A 1 0.451219512 ENSG00000163092 chr2:167245515-167245515;A/G missense_variant False XIRP2@p.T989A 1 0.432432432 ENSG00000163092 chr2:167244882-167244882;A/G missense_variant False XIRP2@p.V935L 1 0.269230769 ENSG00000163092 chr2:167244720-167244720;G/C missense_variant False XKR3@p.I185M 1 0.44 ENSG00000172967 chr22:16799805-16799805;G/C missense_variant False XKR3@p.R213C 1 0.509090909 ENSG00000172967 chr22:16784362-16784362;G/A missense_variant False XKR3@p.S167L 1 0.123076923 ENSG00000172967 chr22:16799860-16799860;G/A missense_variant False XKR4@p.A339V 1 0.162162162 ENSG00000206579 chr8:55523290-55523290;C/T missense_variant False XKR4@p.A488P 1 0.1 ENSG00000206579 chr8:55523736-55523736;G/C missense_variant False XKR4@p.D129E 1 0.177777778 ENSG00000206579 chr8:55102875-55102875;C/A missense_variant False XKR4@p.D637N 1 0.21875 ENSG00000206579 chr8:55524183-55524183;G/A missense_variant False XKR4@p.E420K 1 0.178571429 ENSG00000206579 chr8:55523532-55523532;G/A missense_variant False XKR4@p.R279G 1 0.320895522 ENSG00000206579 chr8:55357706-55357706;C/G missense_variant False XKR6@p.I587T 1 0.101265823 ENSG00000171044 chr8:10898118-10898118;A/G missense_variant False YIPF4@p.R156T 1 0.446808511 ENSG00000119820 chr2:32298295-32298295;G/C missense_variant False YIPF5@p.E5K 1 0.315789474 ENSG00000145817 chr5:144169943-144169943;C/T missense_variant False WWP2@p.P477L 1 0.734693878 ENSG00000198373 chr16:69930243-69930243;C/T missense_variant False ZBTB1@p.D510H 1 0.198675497 ENSG00000126804 chr14:64523032-64523032;G/C missense_variant False ZBTB20@p.E364K 1 0.231884058 ENSG00000181722 chr3:114350988-114350988;C/T missense_variant False ZBTB20@p.C717W 1 0.153225806 ENSG00000181722 chr3:114339080-114339080;G/C missense_variant False ZBTB1@p.T484A 1 0.233870968 ENSG00000126804 chr14:64522954-64522954;A/G missense_variant False ZBTB1@p.Q609R 1 0.461538462 ENSG00000126804 chr14:64523330-64523330;A/G missense_variant False ZBTB1@p.E445Q 1 0.142857143 ENSG00000126804 chr14:64522837-64522837;G/C missense_variant False ZBTB1@p.D626H 1 0.48245614 ENSG00000126804 chr14:64523380-64523380;G/C missense_variant False ZBTB18@p.L23F 1 0.175 ENSG00000179456 chr1:244053868-244053868;C/T missense_variant False ZBTB21@p.A900P 1 0.129411765 ENSG00000173276 chr21:41991398-41991398;C/G missense_variant False ZBTB18@p.E84Q 1 0.125 ENSG00000179456 chr1:244054051-244054051;G/C missense_variant False ZBTB18@p.D515H 1 0.259259259 ENSG00000179456 chr1:244055344-244055344;G/C missense_variant False ZBTB18@p.C490S 1 0.232323232 ENSG00000179456 chr1:244055270-244055270;G/C missense_variant False ZBTB17@p.Q755E 1 0.063492063 ENSG00000116809 chr1:15942118-15942118;G/C missense_variant False ZBTB17@p.H608Y 1 0.567164179 ENSG00000116809 chr1:15943070-15943070;G/A missense_variant False ZBTB17@p.H576Y 1 0.174129353 ENSG00000116809 chr1:15943166-15943166;G/A missense_variant False ZBTB20@p.K153R 1 0.22826087 ENSG00000181722 chr3:114351620-114351620;T/C missense_variant False ZBTB21@p.D140Y 1 0.236220472 ENSG00000173276 chr21:41993678-41993678;C/A missense_variant False YIPF7@p.S245L 1 0.210526316 ENSG00000177752 chr4:44622523-44622523;G/A missense_variant False ZBTB21@p.R641C 1 0.4 ENSG00000173276 chr21:41992175-41992175;G/A missense_variant False ZBTB22@p.K256E 1 0.229166667 ENSG00000236104 chr6:33316151-33316151;T/C missense_variant False ZBTB22@p.I485M 1 0.109375 ENSG00000236104 chr6:33315462-33315462;G/C missense_variant False ZBTB22@p.F522L 1 0.268518519 ENSG00000236104 chr6:33315351-33315351;G/C missense_variant False ZBTB22@p.F217L 1 0.112676056 ENSG00000236104 chr6:33316266-33316266;G/C missense_variant False ZBTB22@p.D141E 1 0.114942529 ENSG00000236104 chr6:33316494-33316494;G/C missense_variant False ZBTB21@p.S243L 1 0.4375 ENSG00000173276 chr21:41993368-41993368;G/A missense_variant False ZBTB21@p.L561V 1 0.201754386 ENSG00000173276 chr21:41992415-41992415;G/C missense_variant False ZBTB21@p.D330N 1 0.357142857 ENSG00000173276 chr21:41993108-41993108;C/T missense_variant False ZBTB21@p.K916N 1 0.188235294 ENSG00000173276 chr21:41991348-41991348;C/G missense_variant False ZBTB21@p.K659N 1 0.177966102 ENSG00000173276 chr21:41992119-41992119;C/G missense_variant False ZBTB21@p.E929Q 1 0.14516129 ENSG00000173276 chr21:41991311-41991311;C/G missense_variant False ZBTB21@p.E1016K 1 0.057471264 ENSG00000173276 chr21:41991050-41991050;C/T missense_variant False ZBTB21@p.D860H 1 0.186206897 ENSG00000173276 chr21:41991518-41991518;C/G missense_variant False ZBTB21@p.D388H 1 0.063829787 ENSG00000173276 chr21:41992934-41992934;C/G missense_variant False ZBTB17@p.E353Q 1 0.25 ENSG00000116809 chr1:15944710-15944710;C/G missense_variant False ZBTB16@p.Q26H 1 0.166666667 ENSG00000109906 chr11:114063378-114063378;G/C missense_variant False ZBTB16@p.E278Q 1 0.153846154 ENSG00000109906 chr11:114064132-114064132;G/C missense_variant False ZBED9@p.K412T 1 0.602941176 ENSG00000232040 chr6:28575470-28575470;T/G missense_variant False ZBP1@p.E271Q 1 0.176470588 ENSG00000124256 chr20:57611790-57611790;C/G missense_variant False ZBP1@p.D370Rfs*38 1 0.151515152 ENSG00000124256 chr20:57604728-57604756;GAGGAAAGTGACTTCTGGATTGTGTGTCT/- frameshift_variant False ZBED9@p.Y781C 1 0.307692308 ENSG00000232040 chr6:28573547-28573547;T/C missense_variant False ZBED9@p.V150D 1 0.118181818 ENSG00000232040 chr6:28579391-28579391;A/T missense_variant False ZBED9@p.P806Q 1 0.205128205 ENSG00000232040 chr6:28573472-28573472;G/T missense_variant False ZBED9@p.L915I 1 0.527777778 ENSG00000232040 chr6:28573146-28573146;G/T missense_variant False ZBED9@p.F442L 1 0.12037037 ENSG00000232040 chr6:28575381-28575381;A/G missense_variant False ZBTB16@p.D130N 1 0.617647059 ENSG00000109906 chr11:114063688-114063688;G/A missense_variant False ZBED9@p.E84K 1 0.172839506 ENSG00000232040 chr6:28586468-28586468;C/T missense_variant False ZBED9@p.E609Q 1 0.344827586 ENSG00000232040 chr6:28574880-28574880;C/G missense_variant False ZBED9@p.E2K 1 0.47826087 ENSG00000232040 chr6:28586714-28586714;C/T missense_variant False ZBED9@p.E1077K 1 0.218309859 ENSG00000232040 chr6:28572660-28572660;C/T missense_variant False ZBED9@p.D1153Y 1 0.126984127 ENSG00000232040 chr6:28572432-28572432;C/A missense_variant False ZBED8@p.E88K 1 0.270408163 None chr5:160395229-160395229;C/T missense_variant False ZBP1@p.E410Q 1 0.360655738 ENSG00000124256 chr20:57604635-57604635;C/G missense_variant False ZBP1@p.Q191H 1 0.271428571 ENSG00000124256 chr20:57613260-57613260;C/G missense_variant False ZBTB10@p.L351_Q357del 1 0.510204082 ENSG00000205189 chr8:80499573-80499593;TGCGACAACTAAATGAACAGA/- inframe_deletion False ZBTB10@p.R748_C752delinsS 1 0.175 ENSG00000205189 chr8:80518887-80518898;GATCATTTAGCT/- inframe_deletion False ZBTB11@p.A896T 1 0.475 ENSG00000066422 chr3:101651642-101651642;C/T missense_variant False ZBTB11@p.C653Y 1 0.190909091 ENSG00000066422 chr3:101659871-101659871;C/T missense_variant False ZBTB11@p.E393K 1 0.283464567 ENSG00000066422 chr3:101665410-101665410;C/T missense_variant False ZBTB11@p.E566K 1 0.472868217 ENSG00000066422 chr3:101664642-101664642;C/T missense_variant False ZBTB11@p.E762K 1 0.108108108 ENSG00000066422 chr3:101654729-101654729;C/T missense_variant False ZBTB11@p.R70Q 1 0.333333333 ENSG00000066422 chr3:101676706-101676706;C/T missense_variant False ZBTB11@p.S638L 1 0.097744361 ENSG00000066422 chr3:101659916-101659916;G/A missense_variant False ZBTB12@p.E135Q 1 0.328947368 ENSG00000204366 chr6:31900903-31900903;C/G missense_variant False ZBTB12@p.E448V 1 0.4125 ENSG00000204366 chr6:31899963-31899963;T/A missense_variant False ZBTB12@p.G344D 1 0.085714286 ENSG00000204366 chr6:31900275-31900275;C/T missense_variant False ZBTB12@p.K43Ffs*21 1 0.264705882 ENSG00000204366 chr6:31901176-31901179;ACTT/- frameshift_variant False ZBTB12@p.S410L 1 0.436619718 ENSG00000204366 chr6:31900077-31900077;G/A missense_variant False ZBTB16@p.D100H 1 0.351851852 ENSG00000109906 chr11:114063598-114063598;G/C missense_variant False ZBTB22@p.N207S 1 0.527777778 ENSG00000236104 chr6:33316297-33316297;T/C missense_variant False ZBTB22@p.P618R 1 0.134453782 ENSG00000236104 chr6:33315064-33315064;G/C missense_variant False ZBTB22@p.Q85E 1 0.202702703 ENSG00000236104 chr6:33316664-33316664;G/C missense_variant False ZBTB38@p.V3I 1 0.132075472 ENSG00000177311 chr3:141442395-141442395;G/A missense_variant False ZBTB3@p.R39G 1 0.133333333 ENSG00000185670 chr11:62753550-62753550;G/C missense_variant False ZBTB3@p.E419K 1 0.245614035 ENSG00000185670 chr11:62752410-62752410;C/T missense_variant False ZBTB3@p.D464N 1 0.074074074 ENSG00000185670 chr11:62752275-62752275;C/T missense_variant False ZBTB3@p.A410S 1 0.336633663 ENSG00000185670 chr11:62752437-62752437;C/A missense_variant False ZBTB39@p.E112Q 1 0.344827586 ENSG00000166860 chr12:57004584-57004584;C/G missense_variant False ZBTB39@p.A342T 1 0.419753086 ENSG00000166860 chr12:57003894-57003894;C/T missense_variant False ZBTB38@p.V35I 1 0.25 ENSG00000177311 chr3:141442491-141442491;G/A missense_variant False ZBTB38@p.E701K 1 0.214285714 ENSG00000177311 chr3:141444489-141444489;G/A missense_variant False ZBTB38@p.S801L 1 0.666666667 ENSG00000177311 chr3:141444790-141444790;C/T missense_variant False ZBTB38@p.R29W 1 0.358695652 ENSG00000177311 chr3:141442473-141442473;C/T missense_variant False ZBTB38@p.L185F 1 0.156862745 ENSG00000177311 chr3:141442943-141442943;G/C missense_variant False ZBTB38@p.L1077F 1 0.095890411 ENSG00000177311 chr3:141445619-141445619;G/C missense_variant False ZBTB38@p.I774V 1 0.166666667 ENSG00000177311 chr3:141444708-141444708;A/G missense_variant False ZBTB38@p.G656V 1 0.139072848 ENSG00000177311 chr3:141444355-141444355;G/T missense_variant False ZBTB40@p.E1060Q 1 0.217687075 ENSG00000184677 chr1:22521625-22521625;G/C missense_variant False ZBTB40@p.E1194Q 1 0.192307692 ENSG00000184677 chr1:22526256-22526256;G/C missense_variant False ZBTB40@p.E302K 1 0.338235294 ENSG00000184677 chr1:22501564-22501564;G/A missense_variant False ZBTB40@p.E413K 1 0.133333333 ENSG00000184677 chr1:22506118-22506118;G/A missense_variant False ZBTB40@p.E623K 1 0.627906977 ENSG00000184677 chr1:22511212-22511212;G/A missense_variant False ZBTB40@p.K226N 1 0.06779661 ENSG00000184677 chr1:22490626-22490626;G/C missense_variant False ZBTB40@p.M77I 1 0.173913043 ENSG00000184677 chr1:22490179-22490179;G/A missense_variant False ZBTB40@p.S511L 1 0.236220472 ENSG00000184677 chr1:22508564-22508564;C/T missense_variant False ZBTB40@p.T774S 1 0.5 ENSG00000184677 chr1:22511993-22511993;A/T missense_variant False ZBTB41@p.D599N 1 0.457142857 ENSG00000177888 chr1:197176648-197176648;C/T missense_variant False ZBTB41@p.D819N 1 0.352112676 ENSG00000177888 chr1:197159634-197159634;C/T missense_variant False ZBTB41@p.H908D 1 0.198275862 ENSG00000177888 chr1:197159367-197159367;G/C missense_variant False ZBTB41@p.L117F 1 0.708737864 ENSG00000177888 chr1:197200123-197200123;C/G missense_variant False ZBTB41@p.P58A 1 0.088888889 ENSG00000177888 chr1:197200302-197200302;G/C missense_variant False ZBTB41@p.Q800K 1 0.3 ENSG00000177888 chr1:197159691-197159691;G/T missense_variant False ZBTB41@p.S402C 1 0.256410256 ENSG00000177888 chr1:197191815-197191815;G/C missense_variant False ZBTB43@p.E465Q 1 0.565217391 ENSG00000169155 chr9:126833902-126833902;G/C missense_variant False ZBTB38@p.G403A 1 0.459459459 ENSG00000177311 chr3:141443596-141443596;G/C missense_variant False ZBTB37@p.S72L 1 0.333333333 ENSG00000185278 chr1:173870440-173870440;C/T missense_variant False ZBTB22@p.R414G 1 0.168498168 ENSG00000236104 chr6:33315677-33315677;G/C missense_variant False ZBTB26@p.H295Q 1 0.138888889 ENSG00000171448 chr9:122919050-122919050;G/C missense_variant False ZBTB32@p.E139K 1 0.43902439 ENSG00000011590 chr19:35715041-35715041;G/A missense_variant False ZBTB2@p.S458C 1 0.2 ENSG00000181472 chr6:151365693-151365693;G/C missense_variant False ZBTB2@p.R94Q 1 0.759493671 ENSG00000181472 chr6:151366785-151366785;C/T missense_variant False ZBTB2@p.I68_Y75del 1 0.130081301 ENSG00000181472 chr6:151366842-151366865;TAGCTGAAGATGTCGGGCTGTATG/- inframe_deletion False ZBTB2@p.D345N 1 0.31 ENSG00000181472 chr6:151366033-151366033;C/T missense_variant False ZBTB2@p.D139N 1 0.299065421 ENSG00000181472 chr6:151366651-151366651;C/T missense_variant False ZBTB24@p.Q11R 1 0.679245283 ENSG00000112365 chr6:109481995-109481995;T/C missense_variant False ZBTB37@p.N37K 1 0.299270073 ENSG00000185278 chr1:173870336-173870336;T/G missense_variant False ZBTB24@p.K242N 1 0.329545455 ENSG00000112365 chr6:109481301-109481301;C/G missense_variant False ZBTB24@p.E229K 1 0.23125 ENSG00000112365 chr6:109481342-109481342;C/T missense_variant False ZBTB24@p.D240H 1 0.585657371 ENSG00000112365 chr6:109481309-109481309;C/G missense_variant False ZBTB22@p.S585F 1 0.125 ENSG00000236104 chr6:33315163-33315163;G/A missense_variant False ZBTB22@p.S365N 1 0.453333333 ENSG00000236104 chr6:33315823-33315823;C/T missense_variant False ZBTB22@p.R414P 1 0.215686275 ENSG00000236104 chr6:33315676-33315676;C/G missense_variant False ZBTB32@p.G434W 1 0.511278195 ENSG00000011590 chr19:35716588-35716588;G/T missense_variant False ZBTB32@p.K125T 1 0.175438596 ENSG00000011590 chr19:35715000-35715000;A/C missense_variant False ZBTB32@p.P247S 1 0.203703704 ENSG00000011590 chr19:35715365-35715365;C/T missense_variant False ZBTB32@p.P427S 1 0.369047619 ENSG00000011590 chr19:35716567-35716567;C/T missense_variant False ZBTB32@p.Q408L 1 0.317073171 ENSG00000011590 chr19:35716511-35716511;A/T missense_variant False ZBTB32@p.S483F 1 0.434343434 ENSG00000011590 chr19:35716736-35716736;C/T missense_variant False ZBTB33@p.F78L 1 0.126582278 ENSG00000177485 chrX:120253647-120253647;T/C missense_variant False ZBTB33@p.L202V 1 0.1375 ENSG00000177485 chrX:120254019-120254019;C/G missense_variant False ZBTB33@p.L50F 1 0.976 ENSG00000177485 chrX:120253563-120253563;C/T missense_variant False ZBTB33@p.N20Y 1 0.402597403 ENSG00000177485 chrX:120253473-120253473;A/T missense_variant False ZBTB33@p.S170Y 1 0.84375 ENSG00000177485 chrX:120253924-120253924;C/A missense_variant False ZBTB33@p.S51L 1 0.743589744 ENSG00000177485 chrX:120253567-120253567;C/T missense_variant False ZBTB34@p.E212Q 1 0.127272727 ENSG00000177125 chr9:126880045-126880045;G/C missense_variant False ZBTB34@p.E491K 1 0.15625 ENSG00000177125 chr9:126880882-126880882;G/A missense_variant False ZBTB34@p.Q170E 1 0.470588235 ENSG00000177125 chr9:126879919-126879919;C/G missense_variant False ZBTB37@p.E251Q 1 0.090909091 ENSG00000185278 chr1:173870976-173870976;G/C missense_variant False ZBTB37@p.L212V 1 0.166666667 ENSG00000185278 chr1:173870859-173870859;C/G missense_variant False ZBED8@p.E514K 1 0.371428571 None chr5:160393951-160393951;C/T missense_variant False ZBED8@p.C102Y 1 0.527272727 None chr5:160395186-160395186;C/T missense_variant False ZBED6CL@p.Q19K 1 0.054054054 None chr7:150330459-150330459;C/A missense_variant False YTHDF1@p.G65R 1 0.357142857 ENSG00000149658 chr20:63203747-63203747;C/T missense_variant False YTHDF2@p.E516Q 1 0.326315789 ENSG00000198492 chr1:28743816-28743816;G/C missense_variant False YTHDF2@p.E516K 1 0.074766355 ENSG00000198492 chr1:28743816-28743816;G/A missense_variant False YTHDF2@p.E436Q 1 0.433962264 ENSG00000198492 chr1:28743576-28743576;G/C missense_variant False YTHDF2@p.D402Y 1 0.106666667 ENSG00000198492 chr1:28743474-28743474;G/T missense_variant False YTHDF1@p.Q287Pfs*62 1 0.473684211 ENSG00000149658 chr20:63203080-63203081;-/G frameshift_variant False YTHDF1@p.I523M 1 0.136363636 ENSG00000149658 chr20:63202371-63202371;G/C missense_variant False YTHDF1@p.G112R 1 0.320754717 ENSG00000149658 chr20:63203606-63203606;C/T missense_variant False YTHDC2@p.F752L 1 0.148148148 ENSG00000047188 chr5:113561119-113561119;C/A missense_variant False YTHDC2@p.V153L 1 0.138888889 ENSG00000047188 chr5:113525159-113525159;G/T missense_variant False YTHDC2@p.R682Q 1 0.65 ENSG00000047188 chr5:113553847-113553847;G/A missense_variant False YTHDC2@p.R1375G 1 0.55 ENSG00000047188 chr5:113592089-113592089;C/G missense_variant False YTHDC2@p.P1188T 1 0.318181818 ENSG00000047188 chr5:113581624-113581624;C/A missense_variant False YTHDC2@p.N1101D 1 0.290076336 ENSG00000047188 chr5:113579642-113579642;A/G missense_variant False YTHDC2@p.L761M 1 0.114285714 ENSG00000047188 chr5:113561144-113561144;T/A missense_variant False YTHDF2@p.M449I 1 0.196428571 ENSG00000198492 chr1:28743617-28743617;G/A missense_variant False YTHDF2@p.Q294H 1 0.461538462 ENSG00000198492 chr1:28743152-28743152;G/C missense_variant False YTHDF2@p.S383L 1 0.234693878 ENSG00000198492 chr1:28743418-28743418;C/T missense_variant False YTHDF2@p.S88F 1 0.290322581 ENSG00000198492 chr1:28742533-28742533;C/T missense_variant False YTHDF3@p.Q494E 1 0.536231884 ENSG00000185728 chr8:63187491-63187491;C/G missense_variant False YWHAB@p.E19K 1 0.469387755 ENSG00000166913 chr20:44901588-44901588;G/A missense_variant False YWHAB@p.G242R 1 0.294573643 ENSG00000166913 chr20:44906421-44906421;G/A missense_variant False YWHAE@p.D200H 1 0.30952381 ENSG00000108953 chr17:1354328-1354328;C/G missense_variant False YWHAE@p.Y152C 1 0.48245614 ENSG00000108953 chr17:1361215-1361215;T/C missense_variant False YWHAG@p.D202N 1 0.105590062 ENSG00000170027 chr7:76329717-76329717;C/T missense_variant False YWHAG@p.F122L 1 0.162790698 ENSG00000170027 chr7:76329955-76329955;G/C missense_variant False YWHAG@p.I205T 1 0.215909091 ENSG00000170027 chr7:76329707-76329707;A/G missense_variant False YWHAG@p.S58C 1 0.419354839 ENSG00000170027 chr7:76330148-76330148;G/C missense_variant False YWHAH@p.M126I 1 0.156862745 ENSG00000128245 chr22:31956429-31956429;G/T missense_variant False YWHAQ@p.A133T 1 0.075 ENSG00000134308 chr2:9591413-9591413;C/T missense_variant False YWHAQ@p.A192T 1 0.596153846 ENSG00000134308 chr2:9588173-9588173;C/T missense_variant False YWHAQ@p.I93M 1 0.090909091 ENSG00000134308 chr2:9630174-9630174;G/C missense_variant False YTHDC2@p.G746E 1 0.416666667 ENSG00000047188 chr5:113561100-113561100;G/A missense_variant False YTHDC2@p.E931G 1 0.215053763 ENSG00000047188 chr5:113565969-113565969;A/G missense_variant False YWHAZ@p.E17K 1 0.161073826 ENSG00000164924 chr8:100948841-100948841;C/T missense_variant False YLPM1@p.R1910H 1 0.173913043 ENSG00000119596 chr14:74816974-74816974;G/A missense_variant False YME1L1@p.E760Q 1 0.175824176 ENSG00000136758 chr10:27112021-27112021;C/G missense_variant False YME1L1@p.E636K 1 0.228070175 ENSG00000136758 chr10:27116330-27116330;C/T missense_variant False YME1L1@p.E600Q 1 0.318918919 ENSG00000136758 chr10:27117668-27117668;C/G missense_variant False YME1L1@p.E571Q 1 0.291338583 ENSG00000136758 chr10:27119321-27119321;C/G missense_variant False YME1L1@p.D499H 1 0.3125 ENSG00000136758 chr10:27120522-27120522;C/G missense_variant False YLPM1@p.S190C 1 0.176470588 ENSG00000119596 chr14:74764058-74764058;C/G missense_variant False YLPM1@p.M1476I 1 0.393442623 ENSG00000119596 chr14:74802583-74802583;G/A missense_variant False YTHDC2@p.A910E 1 0.170212766 ENSG00000047188 chr5:113565906-113565906;C/A missense_variant False YLPM1@p.L1036I 1 0.107142857 ENSG00000119596 chr14:74798403-74798403;C/A missense_variant False YLPM1@p.K891N 1 0.384615385 ENSG00000119596 chr14:74797970-74797970;G/C missense_variant False YLPM1@p.E932D 1 0.547619048 ENSG00000119596 chr14:74798093-74798093;G/C missense_variant False YLPM1@p.D1936A 1 0.37037037 ENSG00000119596 chr14:74817052-74817052;A/C missense_variant False YKT6@p.S181C 1 0.210526316 ENSG00000106636 chr7:44211105-44211105;C/G missense_variant False YJEFN3@p.S43C 1 0.160714286 ENSG00000250067 chr19:19529432-19529432;C/G missense_variant False YME1L1@p.M655I 1 0.336842105 ENSG00000136758 chr10:27116271-27116271;C/G missense_variant False YME1L1@p.S406F 1 0.194244604 ENSG00000136758 chr10:27123603-27123603;G/A missense_variant False YME1L1@p.V354F 1 0.105263158 ENSG00000136758 chr10:27126756-27126756;C/A missense_variant False YOD1@p.G172A 1 0.357142857 ENSG00000180667 chr1:207049552-207049552;C/G missense_variant False YOD1@p.R305T 1 0.290640394 ENSG00000180667 chr1:207049153-207049153;C/G missense_variant False YPEL1@p.E64Q 1 0.425 ENSG00000100027 chr22:21703450-21703450;C/G missense_variant False YPEL4@p.F86L 1 0.166666667 ENSG00000166793 chr11:57646333-57646333;G/C missense_variant False YPEL5@p.R34G 1 0.475609756 ENSG00000119801 chr2:30156751-30156751;C/G missense_variant False YPEL5@p.V99M 1 0.117117117 ENSG00000119801 chr2:30158772-30158772;G/A missense_variant False YTHDC1@p.M434I 1 0.432098765 ENSG00000083896 chr4:68330049-68330049;C/T missense_variant False YTHDC1@p.Q516E 1 0.0625 ENSG00000083896 chr4:68322804-68322804;G/C missense_variant False YTHDC1@p.R568Q 1 0.122807018 ENSG00000083896 chr4:68318844-68318844;C/T missense_variant False YTHDC1@p.S271G 1 0.263157895 ENSG00000083896 chr4:68337099-68337099;T/C missense_variant False YTHDC1@p.T379M 1 0.333333333 ENSG00000083896 chr4:68330297-68330297;G/A missense_variant False YTHDC1@p.Y623C 1 0.482517483 ENSG00000083896 chr4:68316405-68316405;T/C missense_variant False YTHDC2@p.A1073G 1 0.482142857 ENSG00000047188 chr5:113567823-113567823;C/G missense_variant False YTHDC2@p.A1073S 1 0.465517241 ENSG00000047188 chr5:113567822-113567822;G/T missense_variant False YWHAZ@p.E14K 1 0.310077519 ENSG00000164924 chr8:100948850-100948850;C/T missense_variant False YWHAZ@p.G234A 1 0.245033113 ENSG00000164924 chr8:100920730-100920730;C/G missense_variant False ZBED6CL@p.K84N 1 0.051282051 None chr7:150330656-150330656;G/C missense_variant False ZAP70@p.D53H 1 0.52 ENSG00000115085 chr2:97724193-97724193;G/C missense_variant False ZBBX@p.S267C 1 0.217021277 ENSG00000169064 chr3:167328005-167328005;T/A missense_variant False ZBBX@p.Q592E 1 0.509090909 ENSG00000169064 chr3:167298410-167298410;G/C missense_variant False ZBBX@p.H612N 1 0.164835165 ENSG00000169064 chr3:167298350-167298350;G/T missense_variant False ZBBX@p.E395K 1 0.333333333 ENSG00000169064 chr3:167317016-167317016;C/T missense_variant False ZAR1@p.E340D 1 0.194552529 ENSG00000182223 chr4:48492822-48492822;G/C missense_variant False ZAP70@p.E408K 1 0.324561404 ENSG00000115085 chr2:97735389-97735389;G/A missense_variant False ZAN@p.S644L 1 0.282608696 ENSG00000146839 chr7:100752036-100752036;C/T missense_variant False ZAN@p.I2392N 1 0.06557377 ENSG00000146839 chr7:100788084-100788084;T/A missense_variant False ZAN@p.S2681L 1 0.597701149 ENSG00000146839 chr7:100794175-100794175;C/T missense_variant False ZAN@p.S2242C 1 0.106382979 ENSG00000146839 chr7:100784725-100784725;C/G missense_variant False ZAN@p.R2747G 1 0.222222222 ENSG00000146839 chr7:100795309-100795309;C/G missense_variant False ZAN@p.R1693H 1 0.48 ENSG00000146839 chr7:100768646-100768646;G/A missense_variant False ZAN@p.P23A 1 0.285714286 ENSG00000146839 chr7:100735733-100735733;C/G missense_variant False ZAN@p.P1111L 1 0.371428571 ENSG00000146839 chr7:100758224-100758224;C/T missense_variant False ZBBX@p.S568L 1 0.4375 ENSG00000169064 chr3:167305665-167305665;G/A missense_variant False ZBED1@p.A21T 1 0.41011236 ENSG00000292345 chrX:2490659-2490659;C/T missense_variant False ZBED1@p.I544M 1 0.435897436 ENSG00000292345 chrX:2489088-2489088;G/C missense_variant False ZBED1@p.N435S 1 0.137254902 ENSG00000292345 chrX:2489416-2489416;T/C missense_variant False ZBED1@p.Q53H 1 0.121019108 ENSG00000292345 chrX:2490561-2490561;C/G missense_variant False ZBED1@p.V347M 1 0.611111111 ENSG00000292345 chrX:2489681-2489681;C/T missense_variant False ZBED2@p.E198K 1 0.257575758 ENSG00000177494 chr3:111593610-111593610;C/T missense_variant False ZBED2@p.M191I 1 0.345679012 ENSG00000177494 chr3:111593629-111593629;C/T missense_variant False ZBED4@p.E838K 1 0.321428571 ENSG00000100426 chr22:49886174-49886174;G/A missense_variant False ZBED4@p.E904K 1 0.087719298 ENSG00000100426 chr22:49886372-49886372;G/A missense_variant False ZBED4@p.K273E 1 0.342105263 ENSG00000100426 chr22:49884479-49884479;A/G missense_variant False ZBED4@p.L600V 1 0.185185185 ENSG00000100426 chr22:49885460-49885460;C/G missense_variant False ZBED4@p.L954H 1 0.183333333 ENSG00000100426 chr22:49886523-49886523;T/A missense_variant False ZBED4@p.M1150I 1 0.2 ENSG00000100426 chr22:49887112-49887112;G/C missense_variant False ZBED4@p.S114Y 1 0.269230769 ENSG00000100426 chr22:49884003-49884003;C/A missense_variant False ZBED4@p.S701C 1 0.168831169 ENSG00000100426 chr22:49885764-49885764;C/G missense_variant False ZBED4@p.T560I 1 0.482142857 ENSG00000100426 chr22:49885341-49885341;C/T missense_variant False ZAN@p.N401I 1 0.387755102 ENSG00000146839 chr7:100748423-100748423;A/T missense_variant False ZAN@p.I1949V 1 0.24 ENSG00000146839 chr7:100775393-100775393;A/G missense_variant False YWHAZ@p.G234R 1 0.169811321 ENSG00000164924 chr8:100920731-100920731;C/G missense_variant False YY1AP1@p.D693N 1 0.11827957 ENSG00000163374 chr1:155659971-155659971;C/T missense_variant False YY1AP1@p.L52V 1 0.384615385 ENSG00000163374 chr1:155688095-155688095;G/C missense_variant False YY1AP1@p.L52F 1 0.5 ENSG00000163374 chr1:155688095-155688095;G/A missense_variant False YY1AP1@p.K134N 1 0.256097561 ENSG00000163374 chr1:155676668-155676668;C/G missense_variant False YY1AP1@p.E90K 1 0.210526316 ENSG00000163374 chr1:155679464-155679464;C/T missense_variant False YY1AP1@p.E65K 1 0.28358209 ENSG00000163374 chr1:155680442-155680442;C/T missense_variant False YY1AP1@p.E145K 1 0.336683417 ENSG00000163374 chr1:155676637-155676637;C/T missense_variant False YY1AP1@p.A318P 1 0.486725664 ENSG00000163374 chr1:155668692-155668692;C/G missense_variant False ZAN@p.G349E 1 0.387096774 ENSG00000146839 chr7:100748159-100748159;G/A missense_variant False YY1@p.S252L 1 0.283783784 ENSG00000100811 chr14:100262379-100262379;C/T missense_variant False YY1@p.K393R 1 0.48 ENSG00000100811 chr14:100277533-100277533;A/G missense_variant False YY1@p.H300Y 1 0.579545455 ENSG00000100811 chr14:100274753-100274753;C/T missense_variant False YWHAZ@p.R83I 1 0.14893617 ENSG00000164924 chr8:100948642-100948642;C/A missense_variant False YWHAZ@p.L206Kfs*5 1 0.195402299 ENSG00000164924 chr8:100923999-100924017;TGTATGACTCTTCACTTAA/- frameshift_variant False YWHAZ@p.G242A 1 0.066037736 ENSG00000164924 chr8:100920706-100920706;C/G missense_variant False YY1AP1@p.Q629H 1 0.52 ENSG00000163374 chr1:155660161-155660161;C/G missense_variant False YY1AP1@p.S456L 1 0.056603774 ENSG00000163374 chr1:155660681-155660681;G/A missense_variant False YY2@p.K263N 1 0.756272401 ENSG00000230797 chrX:21857273-21857273;G/C missense_variant False YY2@p.S126L 1 0.3 ENSG00000230797 chrX:21856861-21856861;C/T missense_variant False Z83844.2@p.E220D 1 0.288461538 None chr22:37645438-37645438;G/C missense_variant False Z83844.2@p.E550D 1 0.304195804 None chr22:37665703-37665703;G/T missense_variant False ZACN@p.S277F 1 0.08 ENSG00000186919 chr17:76081705-76081705;C/T missense_variant False ZACN@p.S43Y 1 0.095238095 ENSG00000186919 chr17:76079469-76079469;C/A missense_variant False ZADH2@p.C204F 1 0.27394958 None chr18:75201939-75201939;C/A missense_variant False ZADH2@p.E236D 1 0.3 None chr18:75201842-75201842;C/G missense_variant False ZADH2@p.P228L 1 0.375722543 None chr18:75201867-75201867;G/A missense_variant False ZADH2@p.S206F 1 0.304123711 None chr18:75201933-75201933;G/A missense_variant False ZAN@p.D426N 1 0.181818182 ENSG00000146839 chr7:100750651-100750651;G/A missense_variant False ZAN@p.E2246K 1 0.412698413 ENSG00000146839 chr7:100784736-100784736;G/A missense_variant False ZAN@p.E2780Q 1 0.385714286 ENSG00000146839 chr7:100797437-100797437;G/C missense_variant False ZAN@p.E674Q 1 0.417721519 ENSG00000146839 chr7:100752125-100752125;G/C missense_variant False ZAN@p.F1560L 1 0.344370861 ENSG00000146839 chr7:100767077-100767077;C/A missense_variant False WWP2@p.S398L 1 0.526112186 ENSG00000198373 chr16:69925443-69925443;C/T missense_variant False WWP2@p.L91F 1 0.125925926 ENSG00000198373 chr16:69799228-69799228;G/C missense_variant False ZBTB44@p.R446C 1 0.075949367 ENSG00000196323 chr11:130237025-130237025;G/A missense_variant False WDR36@p.E368K 1 0.068493151 ENSG00000134987 chr5:111104724-111104724;G/A missense_variant False WDR36@p.N838I 1 0.164948454 ENSG00000134987 chr5:111124184-111124184;A/T missense_variant False WDR36@p.M130V 1 0.347826087 ENSG00000134987 chr5:111097108-111097108;A/G missense_variant False WDR36@p.L32P 1 0.428571429 ENSG00000134987 chr5:111092383-111092383;T/C missense_variant False WDR36@p.K878T 1 0.22 ENSG00000134987 chr5:111125722-111125722;A/C missense_variant False WDR36@p.G6V 1 0.20212766 ENSG00000134987 chr5:111092305-111092305;G/T missense_variant False WDR36@p.E891G 1 0.40625 ENSG00000134987 chr5:111125761-111125761;A/G missense_variant False WDR36@p.D133N 1 0.13253012 ENSG00000134987 chr5:111097117-111097117;G/A missense_variant False WDR36@p.S408F 1 0.205882353 ENSG00000134987 chr5:111105322-111105322;C/T missense_variant False WDR36@p.A51P 1 0.147058824 ENSG00000134987 chr5:111092439-111092439;G/C missense_variant False WDR35@p.S1014C 1 0.151898734 ENSG00000118965 chr2:19930509-19930509;G/C missense_variant False WDR35@p.R575_V576delinsL 1 0.655555556 ENSG00000118965 chr2:19945938-19945940;CTC/- inframe_deletion False WDR35@p.Q688E 1 0.171974522 ENSG00000118965 chr2:19938299-19938299;G/C missense_variant False WDR35@p.M239I 1 0.170731707 ENSG00000118965 chr2:19974487-19974487;C/T missense_variant False WDR35@p.L567V 1 0.146666667 ENSG00000118965 chr2:19945965-19945965;G/C missense_variant False WDR36@p.R49K 1 0.279069767 ENSG00000134987 chr5:111092434-111092434;G/A missense_variant False WDR36@p.S525F 1 0.632653061 ENSG00000134987 chr5:111110268-111110268;C/T missense_variant False WDR64@p.R1058T 1 0.237623762 ENSG00000162843 chr1:241801142-241801142;G/C missense_variant False WDR3@p.E910K 1 0.279069767 ENSG00000065183 chr1:117959343-117959343;G/A missense_variant False WDR41@p.E26K 1 0.287356322 ENSG00000164253 chr5:77489548-77489548;C/T missense_variant False WDR41@p.D54Y 1 0.522727273 ENSG00000164253 chr5:77489464-77489464;C/A missense_variant False WDR3@p.S567C 1 0.299516908 ENSG00000065183 chr1:117950084-117950084;C/G missense_variant False WDR3@p.S539C 1 0.153005464 ENSG00000065183 chr1:117950000-117950000;C/G missense_variant False WDR3@p.K931N 1 0.259259259 ENSG00000065183 chr1:117959408-117959408;G/C missense_variant False WDR3@p.K929N 1 0.423728814 ENSG00000065183 chr1:117959402-117959402;G/C missense_variant False WDR3@p.E822Q 1 0.2 ENSG00000065183 chr1:117957078-117957078;G/C missense_variant False WDR36@p.Y521H 1 0.082352941 ENSG00000134987 chr5:111110255-111110255;T/C missense_variant False WDR3@p.E776K 1 0.340206186 ENSG00000065183 chr1:117954064-117954064;G/A missense_variant False WDR3@p.C72R 1 0.489583333 ENSG00000065183 chr1:117934515-117934515;T/C missense_variant False WDR38@p.Q105Gfs*24 1 0.230769231 ENSG00000136918 chr9:124855864-124855867;ACCA/- frameshift_variant False WDR38@p.L143I 1 0.252873563 ENSG00000136918 chr9:124856261-124856261;T/A missense_variant False WDR37@p.I405F 1 0.386554622 ENSG00000047056 chr10:1124327-1124327;A/T missense_variant False WDR37@p.I25V 1 0.452054795 ENSG00000047056 chr10:1072228-1072228;A/G missense_variant False WDR35@p.E903A 1 0.385964912 ENSG00000118965 chr2:19932431-19932431;T/G missense_variant False WDR33@p.S1254F 1 0.213592233 ENSG00000136709 chr2:127708697-127708697;G/A missense_variant False WDR33@p.R1257Q 1 0.572222222 ENSG00000136709 chr2:127708688-127708688;C/T missense_variant False WDR25@p.Q104E 1 0.285714286 ENSG00000176473 chr14:100381234-100381234;C/G missense_variant False WDR26@p.I752M 1 0.373134328 ENSG00000162923 chr1:224393832-224393832;A/C missense_variant False WDR26@p.H545Y 1 0.128205128 ENSG00000162923 chr1:224401036-224401036;G/A missense_variant False WDR26@p.H419Y 1 0.306306306 ENSG00000162923 chr1:224418324-224418324;G/A missense_variant False WDR26@p.G473A 1 0.063291139 ENSG00000162923 chr1:224411467-224411467;C/G missense_variant False WDR25@p.Y372C 1 0.571428571 ENSG00000176473 chr14:100525883-100525883;A/G missense_variant False WDR25@p.R465W 1 0.279069767 ENSG00000176473 chr14:100529188-100529188;C/T missense_variant False WDR25@p.F412L 1 0.2 ENSG00000176473 chr14:100526004-100526004;C/A missense_variant False WDR33@p.R1177Q 1 0.268456376 ENSG00000136709 chr2:127709525-127709525;C/T missense_variant False WDR24@p.E918K 1 0.166666667 ENSG00000127580 chr16:684745-684745;C/T missense_variant False WDR24@p.E531Q 1 0.5625 ENSG00000127580 chr16:686875-686875;C/G missense_variant False WDR24@p.D631E 1 0.131034483 ENSG00000127580 chr16:685939-685939;G/C missense_variant False WDR20@p.P159S 1 0.777777778 ENSG00000140153 chr14:102208645-102208645;C/T missense_variant False WDR20@p.P101R 1 0.166666667 ENSG00000140153 chr14:102194990-102194990;C/G missense_variant False WDR20@p.N68_F75del 1 0.361111111 ENSG00000140153 chr14:102140121-102140144;CTTCAATGTGGGCCGGGAGCTGTA/- inframe_deletion False WDR26@p.R254G 1 0.077922078 ENSG00000162923 chr1:224431744-224431744;G/C missense_variant False WDR26@p.R415W 1 0.362318841 ENSG00000162923 chr1:224418336-224418336;G/A missense_variant False WDR27@p.S744L 1 0.166666667 ENSG00000184465 chr6:169613649-169613649;G/A missense_variant False WDR31@p.E208K 1 0.384615385 ENSG00000148225 chr9:113321527-113321527;C/T missense_variant False WDR31@p.L132F 1 0.304347826 ENSG00000148225 chr9:113323084-113323084;C/G missense_variant False WDR31@p.P12S 1 0.272727273 ENSG00000148225 chr9:113331989-113331989;G/A missense_variant False WDR31@p.S301L 1 0.323076923 ENSG00000148225 chr9:113318516-113318516;G/A missense_variant False WDR33@p.D222H 1 0.191780822 ENSG00000136709 chr2:127763122-127763122;C/G missense_variant False WDR33@p.E1113K 1 0.360655738 ENSG00000136709 chr2:127709828-127709828;C/T missense_variant False WDR33@p.F652L 1 0.32 ENSG00000136709 chr2:127720069-127720069;G/T missense_variant False WDR33@p.H374N 1 0.234042553 ENSG00000136709 chr2:127724409-127724409;G/T missense_variant False WDR33@p.H814Y 1 0.347826087 ENSG00000136709 chr2:127719585-127719585;G/A missense_variant False WDR33@p.L311V 1 0.423076923 ENSG00000136709 chr2:127725136-127725136;G/C missense_variant False WDR33@p.M777I 1 0.333333333 ENSG00000136709 chr2:127719694-127719694;C/A missense_variant False WDR33@p.P495A 1 0.258823529 ENSG00000136709 chr2:127722626-127722626;G/C missense_variant False WDR33@p.Q1269H 1 0.171717172 ENSG00000136709 chr2:127706527-127706527;C/G missense_variant False WDR33@p.Q702E 1 0.178947368 ENSG00000136709 chr2:127719921-127719921;G/C missense_variant False WDR41@p.R374I 1 0.327272727 ENSG00000164253 chr5:77436367-77436367;C/A missense_variant False WDR43@p.D35H 1 0.375 ENSG00000163811 chr2:28894801-28894801;G/C missense_variant False WDR43@p.D614N 1 0.571428571 ENSG00000163811 chr2:28946485-28946485;G/A missense_variant False WDR49@p.S158C 1 0.360824742 ENSG00000174776 chr3:167575931-167575931;G/C missense_variant False WDR55@p.S271C 1 0.184615385 ENSG00000120314 chr5:140669230-140669230;C/G missense_variant False WDR55@p.R248H 1 0.08988764 ENSG00000120314 chr5:140669161-140669161;G/A missense_variant False WDR55@p.K341Rfs*8 1 0.416666667 ENSG00000120314 chr5:140669517-140669517;A/- frameshift_variant False WDR55@p.I171N 1 0.206896552 ENSG00000120314 chr5:140668743-140668743;T/A missense_variant False WDR54@p.G113A 1 0.087209302 ENSG00000005448 chr2:74423371-74423371;G/C missense_variant False WDR53@p.S207L 1 0.484705882 ENSG00000185798 chr3:196554668-196554668;G/A missense_variant False WDR49@p.N128Kfs*4 1 0.160493827 ENSG00000174776 chr3:167576020-167576020;A/- frameshift_variant False WDR47@p.Q481E 1 0.23364486 ENSG00000085433 chr1:108995830-108995830;G/C missense_variant False WDR49@p.F124L 1 0.116666667 ENSG00000174776 chr3:167576032-167576032;G/T missense_variant False WDR49@p.D498N 1 0.15625 ENSG00000174776 chr3:167527876-167527876;C/T missense_variant False WDR48@p.W144R 1 0.195488722 ENSG00000114742 chr3:39066824-39066824;T/C missense_variant False WDR48@p.V15L 1 0.305555556 ENSG00000114742 chr3:39052068-39052068;G/T missense_variant False WDR48@p.D39N 1 0.251968504 ENSG00000114742 chr3:39063116-39063116;G/A missense_variant False WDR47@p.V632L 1 0.183673469 ENSG00000085433 chr1:108986554-108986554;C/A missense_variant False WDR59@p.D796N 1 0.151515152 ENSG00000103091 chr16:74887716-74887716;C/T missense_variant False WDR59@p.E346K 1 0.321428571 ENSG00000103091 chr16:74916190-74916190;C/T missense_variant False WDR5@p.S223Y 1 0.082949309 ENSG00000196363 chr9:134154502-134154502;C/A missense_variant False WDR62@p.A1174T 1 0.2 ENSG00000075702 chr19:36103363-36103363;G/A missense_variant False WDR62@p.C91W 1 0.12962963 ENSG00000075702 chr19:36059971-36059971;T/G missense_variant False WDR62@p.D1186G 1 0.129032258 ENSG00000075702 chr19:36103400-36103400;A/G missense_variant False WDR62@p.E1084K 1 0.210526316 ENSG00000075702 chr19:36102781-36102781;G/A missense_variant False WDR62@p.E484K 1 0.071428571 ENSG00000075702 chr19:36083141-36083141;G/A missense_variant False WDR62@p.E915K 1 0.141891892 ENSG00000075702 chr19:36100751-36100751;G/A missense_variant False WDR62@p.G795R 1 0.088757396 ENSG00000075702 chr19:36094080-36094080;G/A missense_variant False WDR62@p.P1346S 1 0.281690141 ENSG00000075702 chr19:36103879-36103879;C/T missense_variant False WDR62@p.P36S 1 0.5 ENSG00000075702 chr19:36055077-36055077;C/T missense_variant False WDR62@p.Q880R 1 0.404761905 ENSG00000075702 chr19:36099517-36099517;A/G missense_variant False WDR62@p.S207L 1 0.445652174 ENSG00000075702 chr19:36067364-36067364;C/T missense_variant False WDR62@p.S427F 1 0.434482759 ENSG00000075702 chr19:36081479-36081479;C/T missense_variant False WDR64@p.D652H 1 0.069767442 ENSG00000162843 chr1:241766254-241766254;G/C missense_variant False WDR64@p.I473M 1 0.362318841 ENSG00000162843 chr1:241741643-241741643;C/G missense_variant False WDR47@p.S246L 1 0.241610738 ENSG00000085433 chr1:109011309-109011309;G/A missense_variant False WDR47@p.P880S 1 0.180555556 ENSG00000085433 chr1:108971552-108971552;G/A missense_variant False WDR43@p.L58dup 1 0.5 ENSG00000163811 chr2:28894868-28894869;-/CCT inframe_insertion False WDR44@p.N868K 1 0.442307692 ENSG00000131725 chrX:118444451-118444451;C/G missense_variant False WDR45@p.L37F 1 0.166666667 ENSG00000196998 chrX:49077856-49077856;C/G missense_variant False WDR45@p.G204C 1 0.153846154 ENSG00000196998 chrX:49075660-49075660;C/A missense_variant False WDR45@p.E305K 1 0.5 ENSG00000196998 chrX:49075196-49075196;C/T missense_variant False WDR44@p.S764C 1 0.320512821 ENSG00000131725 chrX:118442587-118442587;C/G missense_variant False WDR44@p.S614L 1 0.929824561 ENSG00000131725 chrX:118432884-118432884;C/T missense_variant False WDR44@p.Q645E 1 0.37254902 ENSG00000131725 chrX:118436783-118436783;C/G missense_variant False WDR44@p.N555S 1 0.3125 ENSG00000131725 chrX:118409619-118409619;A/G missense_variant False WDR47@p.H268N 1 0.160621762 ENSG00000085433 chr1:109011244-109011244;G/T missense_variant False WDR44@p.L137F 1 0.113207547 ENSG00000131725 chrX:118392856-118392856;A/T missense_variant False WDR44@p.K270E 1 0.702702703 ENSG00000131725 chrX:118393253-118393253;A/G missense_variant False WDR44@p.E866K 1 0.142857143 ENSG00000131725 chrX:118444443-118444443;G/A missense_variant False WDR43@p.T580A 1 0.125 ENSG00000163811 chr2:28942315-28942315;A/G missense_variant False WDR43@p.P498S 1 0.3375 ENSG00000163811 chr2:28935575-28935575;C/T missense_variant False WDR43@p.N460S 1 0.129032258 ENSG00000163811 chr2:28929652-28929652;A/G missense_variant False WDR45@p.P185A 1 0.666666667 ENSG00000196998 chrX:49075717-49075717;G/C missense_variant False WDR45@p.R232L 1 0.285714286 ENSG00000196998 chrX:49075575-49075575;C/A missense_variant False WDR45B@p.D314Y 1 0.073529412 ENSG00000141580 chr17:82616014-82616014;C/A missense_variant False WDR45B@p.E51del 1 0.231884058 ENSG00000141580 chr17:82631011-82631013;CTT/- inframe_deletion False WDR45B@p.G17V 1 0.654545455 ENSG00000141580 chr17:82648291-82648291;C/A missense_variant False WDR45B@p.H9Y 1 0.244897959 ENSG00000141580 chr17:82648316-82648316;G/A missense_variant False WDR45B@p.Q229E 1 0.4 ENSG00000141580 chr17:82619062-82619062;G/C missense_variant False WDR45B@p.W284C 1 0.129032258 ENSG00000141580 chr17:82616600-82616600;C/G missense_variant False WDR46@p.I272M 1 0.26 ENSG00000227057 chr6:33287418-33287418;G/C missense_variant False WDR46@p.Q56K 1 0.213333333 ENSG00000227057 chr6:33288917-33288917;G/T missense_variant False WDR46@p.R27Q 1 0.290322581 ENSG00000227057 chr6:33289003-33289003;C/T missense_variant False WDR46@p.S377C 1 0.244444444 ENSG00000227057 chr6:33280973-33280973;G/C missense_variant False WDR46@p.S603C 1 0.167539267 ENSG00000227057 chr6:33279301-33279301;G/C missense_variant False WDR47@p.A173V 1 0.139285714 ENSG00000085433 chr1:109011528-109011528;G/A missense_variant False WDR47@p.D47G 1 0.600858369 ENSG00000085433 chr1:109023373-109023373;T/C missense_variant False WDR47@p.E11D 1 0.072727273 ENSG00000085433 chr1:109023480-109023480;C/A missense_variant False WDR47@p.E820K 1 0.307692308 ENSG00000085433 chr1:108974695-108974695;C/T missense_variant False WDR20@p.N68S 1 0.609756098 ENSG00000140153 chr14:102140126-102140126;A/G missense_variant False WDR20@p.M258I 1 0.15625 ENSG00000140153 chr14:102208944-102208944;G/C missense_variant False WDR20@p.L429M 1 0.063063063 ENSG00000140153 chr14:102209455-102209455;C/A missense_variant False WBP11@p.G414E 1 0.313253012 ENSG00000084463 chr12:14790524-14790524;C/T missense_variant False WBP11@p.S388L 1 0.279411765 ENSG00000084463 chr12:14790602-14790602;G/A missense_variant False WBP11@p.R86H 1 0.190839695 ENSG00000084463 chr12:14796937-14796937;C/T missense_variant False WBP11@p.R598I 1 0.407239819 ENSG00000084463 chr12:14787198-14787198;C/A missense_variant False WBP11@p.R503Afs*27 1 0.144927536 ENSG00000084463 chr12:14787470-14787485;CATCATGCCAGGACGA/- frameshift_variant False WBP11@p.Q264E 1 0.099415205 ENSG00000084463 chr12:14793854-14793854;G/C missense_variant False WBP11@p.P176A 1 0.222222222 ENSG00000084463 chr12:14794732-14794732;G/C missense_variant False WASL@p.P301A 1 0.275590551 ENSG00000106299 chr7:123692793-123692793;G/C missense_variant False WASHC4@p.V402I 1 0.463917526 ENSG00000136051 chr12:105133774-105133774;G/A missense_variant False WASHC5@p.S220F 1 0.3 ENSG00000164961 chr8:125078790-125078790;G/A missense_variant False WASHC5@p.R753C 1 0.139240506 ENSG00000164961 chr8:125049128-125049128;G/A missense_variant False WASHC5@p.Q503K 1 0.352941176 ENSG00000164961 chr8:125061096-125061096;G/T missense_variant False WASHC5@p.N517K 1 0.61627907 ENSG00000164961 chr8:125059513-125059513;A/T missense_variant False WASHC5@p.E163K 1 0.456953642 ENSG00000164961 chr8:125081692-125081692;C/T missense_variant False WASHC5@p.D233H 1 0.25 ENSG00000164961 chr8:125078752-125078752;C/G missense_variant False WBP1@p.R147C 1 0.177710843 ENSG00000239779 chr2:74460310-74460310;C/T missense_variant False WBP2@p.D26H 1 0.127906977 ENSG00000132471 chr17:75851660-75851660;C/G missense_variant False WBP2NL@p.E30K 1 0.077777778 ENSG00000183066 chr22:42019336-42019336;G/A missense_variant False WBP2NL@p.L23F 1 0.833333333 ENSG00000183066 chr22:42019317-42019317;G/C missense_variant False WBP4@p.D22H 1 0.386363636 ENSG00000120688 chr13:41062705-41062705;G/C missense_variant False WBP4@p.E283K 1 0.178082192 ENSG00000120688 chr13:41080736-41080736;G/A missense_variant False WDCP@p.H192Y 1 0.452054795 ENSG00000163026 chr2:24038921-24038921;G/A missense_variant False WDCP@p.L611V 1 0.474576271 ENSG00000163026 chr2:24032934-24032934;G/C missense_variant False WDCP@p.R618T 1 0.4 ENSG00000163026 chr2:24032912-24032912;C/G missense_variant False WDCP@p.S523L 1 0.181818182 ENSG00000163026 chr2:24037927-24037927;G/A missense_variant False WDFY1@p.S408F 1 0.48 ENSG00000085449 chr2:223878681-223878681;G/A missense_variant False WDFY3@p.D2070H 1 0.104803493 ENSG00000163625 chr4:84741787-84741787;C/G missense_variant False WDFY3@p.D2436H 1 0.299065421 ENSG00000163625 chr4:84724561-84724561;C/G missense_variant False WDFY3@p.D292H 1 0.287878788 ENSG00000163625 chr4:84829086-84829086;C/G missense_variant False WDFY3@p.E1307K 1 0.34 ENSG00000163625 chr4:84786122-84786122;C/T missense_variant False WDFY3@p.E2517K 1 0.128787879 ENSG00000163625 chr4:84721465-84721465;C/T missense_variant False WDFY3@p.E2830K 1 0.181818182 ENSG00000163625 chr4:84702461-84702461;C/T missense_variant False WASHC5@p.D1153N 1 0.222222222 ENSG00000164961 chr8:125024640-125024640;C/T missense_variant False WASHC4@p.S418C 1 0.293333333 ENSG00000136051 chr12:105133823-105133823;C/G missense_variant False WDFY3@p.E3412Q 1 0.102803738 ENSG00000163625 chr4:84678193-84678193;C/G missense_variant False WASHC2A@p.G401A 1 0.348837209 ENSG00000099290 chr10:50095169-50095169;G/C missense_variant False WASHC2C@p.D1265Y 1 0.281690141 ENSG00000172661 chr10:45790440-45790440;G/T missense_variant False WASHC2C@p.A387V 1 0.105882353 ENSG00000172661 chr10:45753217-45753217;C/T missense_variant False WASHC2A@p.S787F 1 0.444444444 ENSG00000099290 chr10:50119651-50119651;C/T missense_variant False WASHC2A@p.R1252T 1 0.314285714 ENSG00000099290 chr10:50130947-50130947;G/C missense_variant False WASHC2A@p.P353L 1 0.034482759 ENSG00000099290 chr10:50093322-50093322;C/T missense_variant False WASHC2A@p.P1162T 1 0.058252427 ENSG00000099290 chr10:50129815-50129815;C/A missense_variant False WASHC2A@p.E666G 1 0.530909091 ENSG00000099290 chr10:50110228-50110228;A/G missense_variant False WASHC4@p.R330Q 1 0.5 ENSG00000136051 chr12:105126313-105126313;G/A missense_variant False WASHC2A@p.E434K 1 0.085106383 ENSG00000099290 chr10:50095658-50095658;G/A missense_variant False WASHC2A@p.E1243K 1 0.44 ENSG00000099290 chr10:50130919-50130919;G/A missense_variant False WASHC2A@p.D543N 1 0.092783505 ENSG00000099290 chr10:50100056-50100056;G/A missense_variant False WASHC2A@p.D1071N 1 0.172839506 ENSG00000099290 chr10:50129542-50129542;G/A missense_variant False WASF3@p.S412F 1 0.092105263 ENSG00000132970 chr13:26682858-26682858;C/T missense_variant False WASF3@p.R65K 1 0.12195122 ENSG00000132970 chr13:26665088-26665088;G/A missense_variant False WASHC2C@p.D1294N 1 0.118644068 ENSG00000172661 chr10:45790527-45790527;G/A missense_variant False WASHC2C@p.D8N 1 0.272727273 ENSG00000172661 chr10:45727435-45727435;G/A missense_variant False WASHC2C@p.E1057K 1 0.267175573 ENSG00000172661 chr10:45788952-45788952;G/A missense_variant False WASHC2C@p.E1218K 1 0.222641509 ENSG00000172661 chr10:45789435-45789435;G/A missense_variant False WASHC2C@p.E20Q 1 0.2 ENSG00000172661 chr10:45727471-45727471;G/C missense_variant False WASHC2C@p.E266K 1 0.329411765 ENSG00000172661 chr10:45750159-45750159;G/A missense_variant False WASHC2C@p.R1063K 1 0.166666667 ENSG00000172661 chr10:45788971-45788971;G/A missense_variant False WASHC2C@p.S1260C 1 0.152777778 ENSG00000172661 chr10:45790426-45790426;C/G missense_variant False WASHC3@p.R135I 1 0.460431655 ENSG00000120860 chr12:102039899-102039899;C/A missense_variant False WASHC4@p.D1099N 1 0.295652174 ENSG00000136051 chr12:105164248-105164248;G/A missense_variant False WASHC4@p.D204N 1 0.272727273 ENSG00000136051 chr12:105121149-105121149;G/A missense_variant False WASHC4@p.D333N 1 0.166666667 ENSG00000136051 chr12:105126321-105126321;G/A missense_variant False WASHC4@p.D910Y 1 0.210526316 ENSG00000136051 chr12:105152421-105152421;G/T missense_variant False WASHC4@p.G115A 1 0.173913043 ENSG00000136051 chr12:105115206-105115206;G/C missense_variant False WASHC4@p.L1010I 1 0.103896104 ENSG00000136051 chr12:105160116-105160116;C/A missense_variant False WASHC4@p.M1106I 1 0.197183099 ENSG00000136051 chr12:105164271-105164271;G/A missense_variant False WASHC4@p.R293W 1 0.2 ENSG00000136051 chr12:105126094-105126094;C/T missense_variant False WDFY3@p.E2889V 1 0.183486239 ENSG00000163625 chr4:84696754-84696754;T/A missense_variant False WDFY3@p.E3455K 1 0.2 ENSG00000163625 chr4:84677293-84677293;C/T missense_variant False WDR20@p.G256S 1 0.933333333 ENSG00000140153 chr14:102208936-102208936;G/A missense_variant False WDR17@p.D105N 1 0.333333333 ENSG00000150627 chr4:176115913-176115913;G/A missense_variant False WDR17@p.E1209K 1 0.297619048 ENSG00000150627 chr4:176177116-176177116;G/A missense_variant False WDR17@p.E1087K 1 0.238095238 ENSG00000150627 chr4:176172414-176172414;G/A missense_variant False WDR17@p.E1080Q 1 0.1 ENSG00000150627 chr4:176172393-176172393;G/C missense_variant False WDR17@p.D389H 1 0.06 ENSG00000150627 chr4:176131733-176131733;G/C missense_variant False WDR17@p.D378N 1 0.364705882 ENSG00000150627 chr4:176131700-176131700;G/A missense_variant False WDR17@p.D140N 1 0.099173554 ENSG00000150627 chr4:176119905-176119905;G/A missense_variant False WDR13@p.M288I 1 0.108108108 ENSG00000101940 chrX:48601816-48601816;G/A missense_variant False WDR11@p.K94N 1 0.183333333 ENSG00000120008 chr10:120858726-120858726;G/T missense_variant False WDR13@p.L90F 1 0.875 ENSG00000101940 chrX:48598943-48598943;C/T missense_variant False WDR13@p.D168H 1 0.128205128 ENSG00000101940 chrX:48599696-48599696;G/C missense_variant False WDR11@p.V275L 1 0.375 ENSG00000120008 chr10:120865156-120865156;G/C missense_variant False WDR11@p.S41P 1 0.385964912 ENSG00000120008 chr10:120852558-120852558;T/C missense_variant False WDR11@p.R443T 1 0.492307692 ENSG00000120008 chr10:120871203-120871203;G/C missense_variant False WDR11@p.M381I 1 0.056179775 ENSG00000120008 chr10:120866717-120866717;G/A missense_variant False WDR17@p.I1114M 1 0.477777778 ENSG00000150627 chr4:176172497-176172497;T/G missense_variant False WDR17@p.I872M 1 0.255813953 ENSG00000150627 chr4:176160012-176160012;C/G missense_variant False WDR17@p.K1245N 1 0.132743363 ENSG00000150627 chr4:176177540-176177540;G/C missense_variant False WDR17@p.L717P 1 0.160493827 ENSG00000150627 chr4:176150073-176150073;T/C missense_variant False WDR17@p.L968F 1 0.483333333 ENSG00000150627 chr4:176162154-176162154;C/T missense_variant False WDR17@p.R1036K 1 0.153846154 ENSG00000150627 chr4:176168671-176168671;G/A missense_variant False WDR17@p.S771N 1 0.791666667 ENSG00000150627 chr4:176150529-176150529;G/A missense_variant False WDR18@p.R119G 1 0.404494382 ENSG00000065268 chr19:989795-989795;C/G missense_variant False WDR19@p.C144Y 1 0.150943396 ENSG00000157796 chr4:39199502-39199502;G/A missense_variant False WDR19@p.E1146D 1 0.2375 ENSG00000157796 chr4:39270055-39270055;G/C missense_variant False WDR19@p.E1245K 1 0.253623188 ENSG00000157796 chr4:39277036-39277036;G/A missense_variant False WDR19@p.E1319Q 1 0.411764706 ENSG00000157796 chr4:39278576-39278576;G/C missense_variant False WDR19@p.K140N 1 0.19047619 ENSG00000157796 chr4:39199491-39199491;G/C missense_variant False WDR19@p.L974V 1 0.405405405 ENSG00000157796 chr4:39253949-39253949;C/G missense_variant False WDR19@p.Q623H 1 0.268965517 ENSG00000157796 chr4:39228577-39228577;G/C missense_variant False WDR1@p.D107Y 1 0.388489209 ENSG00000071127 chr4:10099050-10099050;C/A missense_variant False WDR1@p.E487K 1 0.222222222 ENSG00000071127 chr4:10077863-10077863;C/T missense_variant False WDR11@p.L552F 1 0.369565217 ENSG00000120008 chr10:120878450-120878450;C/T missense_variant False WDR11@p.K482N 1 0.173333333 ENSG00000120008 chr10:120871321-120871321;G/C missense_variant False WDFY3@p.E432K 1 0.161016949 ENSG00000163625 chr4:84821381-84821381;C/T missense_variant False WDFY3@p.L2068V 1 0.135802469 ENSG00000163625 chr4:84741793-84741793;G/C missense_variant False WDFY3@p.S1786R 1 0.125 ENSG00000163625 chr4:84756992-84756992;A/T missense_variant False WDFY3@p.R3472T 1 0.327731092 ENSG00000163625 chr4:84677241-84677241;C/G missense_variant False WDFY3@p.Q1716L 1 0.216216216 ENSG00000163625 chr4:84765851-84765851;T/A missense_variant False WDFY3@p.P1578S 1 0.285714286 ENSG00000163625 chr4:84774842-84774842;G/A missense_variant False WDFY3@p.L557F 1 0.193832599 ENSG00000163625 chr4:84820109-84820109;G/A missense_variant False WDFY3@p.L3083V 1 0.446153846 ENSG00000163625 chr4:84690622-84690622;G/C missense_variant False WDFY3@p.I3025M 1 0.123076923 ENSG00000163625 chr4:84691760-84691760;G/C missense_variant False WDR11@p.K155N 1 0.455882353 ENSG00000120008 chr10:120860221-120860221;G/C missense_variant False WDFY3@p.I2614M 1 0.194444444 ENSG00000163625 chr4:84716929-84716929;G/C missense_variant False WDFY3@p.H3140Y 1 0.075 ENSG00000163625 chr4:84688211-84688211;G/A missense_variant False WDFY3@p.G3362V 1 0.202702703 ENSG00000163625 chr4:84678981-84678981;C/A missense_variant False WDFY3@p.G1936A 1 0.161458333 ENSG00000163625 chr4:84751649-84751649;C/G missense_variant False WDFY3@p.G1486A 1 0.151515152 ENSG00000163625 chr4:84778564-84778564;C/G missense_variant False WDFY3@p.E662G 1 0.272727273 ENSG00000163625 chr4:84810247-84810247;T/C missense_variant False WDFY3@p.S2288L 1 0.517241379 ENSG00000163625 chr4:84736222-84736222;G/A missense_variant False WDFY3@p.S2633C 1 0.316455696 ENSG00000163625 chr4:84715361-84715361;G/C missense_variant False WDFY3@p.S815F 1 0.081632653 ENSG00000163625 chr4:84803453-84803453;G/A missense_variant False WDHD1@p.R1085C 1 0.125 ENSG00000198554 chr14:54941627-54941627;G/A missense_variant False WDHD1@p.S230Ffs*20 1 0.175 ENSG00000198554 chr14:55002097-55002098;-/A frameshift_variant False WDHD1@p.S239F 1 0.100502513 ENSG00000198554 chr14:55000970-55000970;G/A missense_variant False WDHD1@p.S801C 1 0.075268817 ENSG00000198554 chr14:54963081-54963081;G/C missense_variant False WDPCP@p.C716Y 1 0.428571429 ENSG00000143951 chr2:63153506-63153506;C/T missense_variant False WDPCP@p.D28N 1 0.080645161 ENSG00000143951 chr2:63492934-63492934;C/T missense_variant False WDPCP@p.I391V 1 0.192982456 ENSG00000143951 chr2:63404312-63404312;T/C missense_variant False WDPCP@p.N529T 1 0.488636364 ENSG00000143951 chr2:63381944-63381944;T/G missense_variant False WDPCP@p.R420H 1 0.108910891 ENSG00000143951 chr2:63404224-63404224;C/T missense_variant False WDPCP@p.R679K 1 0.236111111 ENSG00000143951 chr2:63174712-63174712;C/T missense_variant False WDPCP@p.S737F 1 0.185185185 ENSG00000143951 chr2:63122037-63122037;G/A missense_variant False WDPCP@p.V238A 1 0.395833333 ENSG00000143951 chr2:63433857-63433857;A/G missense_variant False WDR11@p.E517K 1 0.208 ENSG00000120008 chr10:120873916-120873916;G/A missense_variant False WDR11@p.E879K 1 0.5 ENSG00000120008 chr10:120901046-120901046;G/A missense_variant False WDR64@p.Q915R 1 0.221238938 ENSG00000162843 chr1:241787917-241787917;A/G missense_variant False WDR64@p.Y491C 1 0.314606742 ENSG00000162843 chr1:241744424-241744424;A/G missense_variant False WWP2@p.D555E 1 0.410071942 ENSG00000198373 chr16:69931873-69931873;C/A missense_variant False WNK4@p.P856S 1 0.285714286 ENSG00000126562 chr17:42794987-42794987;C/T missense_variant False WNT10B@p.R228Q 1 0.285714286 ENSG00000169884 chr12:48967974-48967974;C/T missense_variant False WNT10B@p.E39K 1 0.333333333 ENSG00000169884 chr12:48970311-48970311;C/T missense_variant False WNT10A@p.E119K 1 0.318181818 ENSG00000135925 chr2:218882402-218882402;G/A missense_variant False WNK4@p.R392K 1 0.25 ENSG00000126562 chr17:42785101-42785101;G/A missense_variant False WNK4@p.R1166W 1 0.466666667 ENSG00000126562 chr17:42796187-42796187;C/T missense_variant False WNK4@p.P862L 1 0.300546448 ENSG00000126562 chr17:42795006-42795006;C/T missense_variant False WNK4@p.N697T 1 0.484375 ENSG00000126562 chr17:42788730-42788730;A/C missense_variant False WNT11@p.T33A 1 0.461538462 ENSG00000085741 chr11:76196705-76196705;T/C missense_variant False WNK4@p.M1111I 1 0.279069767 ENSG00000126562 chr17:42795935-42795935;G/A missense_variant False WNK4@p.D586N 1 0.133333333 ENSG00000126562 chr17:42787792-42787792;G/A missense_variant False WNK3@p.T1700I 1 0.285714286 ENSG00000196632 chrX:54198628-54198628;G/A missense_variant False WNK3@p.R916Q 1 0.1 ENSG00000196632 chrX:54249601-54249601;C/T missense_variant False WNK3@p.R495S 1 0.228571429 ENSG00000196632 chrX:54294761-54294761;T/G missense_variant False WNK3@p.M1328I 1 0.814814815 ENSG00000196632 chrX:54238372-54238372;C/G missense_variant False WNT10B@p.R360Q 1 0.319444444 ENSG00000169884 chr12:48966186-48966186;C/T missense_variant False WNT16@p.E72Q 1 0.431818182 ENSG00000002745 chr7:121329685-121329685;G/C missense_variant False WDR6@p.D504N 1 0.25 ENSG00000178252 chr3:49013044-49013044;G/A missense_variant False WNT2B@p.G14A 1 0.347826087 ENSG00000134245 chr1:112467578-112467578;G/C missense_variant False WNT5A@p.C83Vfs*38 1 0.152671756 ENSG00000114251 chr3:55479459-55479460;-/A frameshift_variant False WNT4@p.R68H 1 0.134751773 ENSG00000162552 chr1:22129726-22129726;C/T missense_variant False WNT4@p.E76Q 1 0.240740741 ENSG00000162552 chr1:22129703-22129703;C/G missense_variant False WNT3A@p.F263L 1 0.542857143 ENSG00000154342 chr1:228059195-228059195;C/A missense_variant False WNT3A@p.E61D 1 0.19375 ENSG00000154342 chr1:228022778-228022778;G/T missense_variant False WNT2B@p.R137Q 1 0.571428571 ENSG00000134245 chr1:112516146-112516146;G/A missense_variant False WNT2B@p.D3N 1 0.411764706 ENSG00000134245 chr1:112467544-112467544;G/A missense_variant False WNT16@p.E88K 1 0.275 ENSG00000002745 chr7:121329733-121329733;G/A missense_variant False WNT2@p.Y233H 1 0.402985075 ENSG00000105989 chr7:117297768-117297768;A/G missense_variant False WNT2@p.R63C 1 0.857142857 ENSG00000105989 chr7:117320690-117320690;G/A missense_variant False WNT2@p.L19F 1 0.189189189 ENSG00000105989 chr7:117322935-117322935;G/A missense_variant False WNT16@p.S240C 1 0.28125 ENSG00000002745 chr7:121338966-121338966;C/G missense_variant False WNT16@p.I277L 1 0.622641509 ENSG00000002745 chr7:121339076-121339076;A/C missense_variant False WNT16@p.G326C 1 0.117647059 ENSG00000002745 chr7:121339223-121339223;G/T missense_variant False WNK3@p.H1008D 1 0.06097561 ENSG00000196632 chrX:54249326-54249326;G/C missense_variant False WNK3@p.E739Q 1 0.557692308 ENSG00000196632 chrX:54255775-54255775;C/G missense_variant False WNK3@p.E455K 1 0.142857143 ENSG00000196632 chrX:54298210-54298210;C/T missense_variant False WNK1@p.E1665K 1 0.517857143 ENSG00000060237 chr12:885797-885797;G/A missense_variant False WNK1@p.K1531N 1 0.211055276 ENSG00000060237 chr12:885397-885397;G/C missense_variant False WNK1@p.I558M 1 0.116607774 ENSG00000060237 chr12:861066-861066;C/G missense_variant False WNK1@p.H1534D 1 0.127071823 ENSG00000060237 chr12:885404-885404;C/G missense_variant False WNK1@p.G1771A 1 0.790322581 ENSG00000060237 chr12:887252-887252;G/C missense_variant False WNK1@p.E586D 1 0.391752577 ENSG00000060237 chr12:861150-861150;G/C missense_variant False WNK1@p.E548Q 1 0.326203209 ENSG00000060237 chr12:861034-861034;G/C missense_variant False WNK1@p.E1637K 1 0.5 ENSG00000060237 chr12:885713-885713;G/A missense_variant False WNK3@p.E1564K 1 0.382352941 ENSG00000196632 chrX:54232959-54232959;C/T missense_variant False WNK1@p.E1049Q 1 0.113207547 ENSG00000060237 chr12:881725-881725;G/C missense_variant False WNK1@p.D349N 1 0.230283912 ENSG00000060237 chr12:827154-827154;G/A missense_variant False WNK1@p.D2013N 1 0.363636364 ENSG00000060237 chr12:896524-896524;G/A missense_variant False WNK1@p.D2013H 1 0.061403509 ENSG00000060237 chr12:896524-896524;G/C missense_variant False WNK1@p.A918S 1 0.5 ENSG00000060237 chr12:879951-879951;G/T missense_variant False WNK1@p.A22S 1 0.348484848 ENSG00000060237 chr12:753629-753629;G/T missense_variant False WNK1@p.K2104T 1 0.314814815 ENSG00000060237 chr12:897544-897544;A/C missense_variant False WNK1@p.L1303I 1 0.413043478 ENSG00000060237 chr12:884711-884711;C/A missense_variant False WNK1@p.M2320V 1 0.636363636 ENSG00000060237 chr12:908601-908601;A/G missense_variant False WNK1@p.Q2044H 1 0.228070175 ENSG00000060237 chr12:896619-896619;G/C missense_variant False WNK1@p.Q838E 1 0.163461538 ENSG00000060237 chr12:879711-879711;C/G missense_variant False WNK1@p.S1918F 1 0.19047619 ENSG00000060237 chr12:896240-896240;C/T missense_variant False WNK1@p.S731L 1 0.432432432 ENSG00000060237 chr12:871317-871317;C/T missense_variant False WNK1@p.T74A 1 0.260869565 ENSG00000060237 chr12:753785-753785;A/G missense_variant False WNK2@p.A1123T 1 0.142857143 ENSG00000165238 chr9:93262676-93262676;G/A missense_variant False WNK2@p.A896S 1 0.476190476 ENSG00000165238 chr9:93259234-93259234;G/T missense_variant False WNK2@p.I434M 1 0.131147541 ENSG00000165238 chr9:93238301-93238301;C/G missense_variant False WNK2@p.P1420R 1 0.578947368 ENSG00000165238 chr9:93288902-93288902;C/G missense_variant False WNK2@p.R1168Q 1 0.421052632 ENSG00000165238 chr9:93263658-93263658;G/A missense_variant False WNK2@p.S1179Y 1 0.307692308 ENSG00000165238 chr9:93263691-93263691;C/A missense_variant False WNK2@p.V1710I 1 0.5 ENSG00000165238 chr9:93292388-93292388;G/A missense_variant False WNK2@p.V2217M 1 0.475609756 ENSG00000165238 chr9:93317541-93317541;G/A missense_variant False WNK3@p.A1235V 1 0.12 ENSG00000196632 chrX:54239047-54239047;G/A missense_variant False WNT5A@p.S210F 1 0.295454545 ENSG00000114251 chr3:55474392-55474392;G/A missense_variant False WNT5A@p.V365L 1 0.4375 ENSG00000114251 chr3:55470142-55470142;C/G missense_variant False WNT5B@p.E137Q 1 0.192307692 ENSG00000111186 chr12:1639764-1639764;G/C missense_variant False WWC1@p.K1023N 1 0.164835165 ENSG00000113645 chr5:168464881-168464881;G/C missense_variant False WWC2@p.E398K 1 0.461538462 ENSG00000151718 chr4:183253995-183253995;G/A missense_variant False WWC2@p.E1135Q 1 0.201058201 ENSG00000151718 chr4:183312359-183312359;G/C missense_variant False WWC1@p.S706Y 1 0.176470588 ENSG00000113645 chr5:168431281-168431281;C/A missense_variant False WWC1@p.R926C 1 0.317307692 ENSG00000113645 chr5:168455473-168455473;C/T missense_variant False WWC1@p.P549L 1 0.111111111 ENSG00000113645 chr5:168423904-168423904;C/T missense_variant False WWC1@p.L238V 1 0.109677419 ENSG00000113645 chr5:168406319-168406319;C/G missense_variant False WWC1@p.G288R 1 0.07826087 ENSG00000113645 chr5:168408648-168408648;G/A missense_variant False WT1@p.R181C 1 0.25 ENSG00000184937 chr11:32434820-32434820;G/A missense_variant True WTIP@p.C239F 1 0.12 ENSG00000142279 chr19:34490424-34490424;G/T missense_variant False WTAP@p.S378F 1 0.451612903 ENSG00000146457 chr6:159755553-159755553;C/T missense_variant False WTAP@p.L164P 1 0.315789474 ENSG00000146457 chr6:159753498-159753498;T/C missense_variant False WTAP@p.K156R 1 0.085365854 ENSG00000146457 chr6:159753474-159753474;A/G missense_variant False WTAP@p.F147C 1 0.772727273 ENSG00000146457 chr6:159748357-159748357;T/G missense_variant False WTAP@p.D212H 1 0.222222222 ENSG00000146457 chr6:159755054-159755054;G/C missense_variant False WWC2@p.E509K 1 0.24137931 ENSG00000151718 chr4:183261148-183261148;G/A missense_variant False WWC2@p.I76M 1 0.303571429 ENSG00000151718 chr4:183193695-183193695;C/G missense_variant False WWC2@p.P558A 1 0.6 ENSG00000151718 chr4:183261295-183261295;C/G missense_variant False WWC3@p.A1000P 1 0.588235294 ENSG00000047644 chrX:10138850-10138850;G/C missense_variant False WWC3@p.E113Q 1 0.094594595 ENSG00000047644 chrX:10079764-10079764;G/C missense_variant False WWC3@p.E579Q 1 0.072580645 ENSG00000047644 chrX:10122723-10122723;G/C missense_variant False WWC3@p.M147I 1 0.590909091 ENSG00000047644 chrX:10090834-10090834;G/A missense_variant False WWC3@p.R900Q 1 0.157024793 ENSG00000047644 chrX:10134532-10134532;G/A missense_variant False WWC3@p.S930L 1 0.270833333 ENSG00000047644 chrX:10136658-10136658;C/T missense_variant False WWOX@p.A161V 1 0.111111111 ENSG00000186153 chr16:78164255-78164255;C/T missense_variant False WWOX@p.E407K 1 0.444444444 ENSG00000186153 chr16:79211770-79211770;G/A missense_variant False WWOX@p.L242F 1 0.089385475 ENSG00000186153 chr16:78424988-78424988;C/T missense_variant False WWOX@p.P88S 1 0.210084034 ENSG00000186153 chr16:78115007-78115007;C/T missense_variant False WWP1@p.P385L 1 0.288461538 ENSG00000123124 chr8:86425315-86425315;C/T missense_variant False WWP1@p.Q131E 1 0.303664921 ENSG00000123124 chr8:86398398-86398398;C/G missense_variant False WWP1@p.R396S 1 0.292929293 ENSG00000123124 chr8:86427673-86427673;A/T missense_variant False WWP1@p.Y899C 1 0.157303371 ENSG00000123124 chr8:86466820-86466820;A/G missense_variant False WTAP@p.A116V 1 0.541666667 ENSG00000146457 chr6:159748264-159748264;C/T missense_variant False WT1@p.E372K 1 0.184615385 ENSG00000184937 chr11:32396356-32396356;C/T missense_variant True WNT5B@p.F238L 1 0.063157895 ENSG00000111186 chr12:1645886-1645886;C/A missense_variant False WNT8A@p.R173K 1 0.4 ENSG00000061492 chr5:138090535-138090535;G/A missense_variant False WRAP53@p.S112N 1 0.496732026 ENSG00000141499 chr17:7688983-7688983;G/A missense_variant False WRAP53@p.E115K 1 0.198473282 ENSG00000141499 chr17:7688991-7688991;G/A missense_variant False WNT9B@p.G302V 1 0.311827957 ENSG00000158955 chr17:46876549-46876549;G/T missense_variant False WNT9A@p.R185K 1 0.920792079 ENSG00000143816 chr1:227924199-227924199;C/T missense_variant False WNT9A@p.D190N 1 0.176470588 ENSG00000143816 chr1:227924185-227924185;C/T missense_variant False WNT9A@p.A90V 1 0.413793103 ENSG00000143816 chr1:227925346-227925346;G/A missense_variant False WNT7B@p.E145K 1 0.163043478 ENSG00000188064 chr22:45931235-45931235;C/T missense_variant False WSCD2@p.R358C 1 0.377777778 ENSG00000075035 chr12:108232823-108232823;C/T missense_variant False WNT7A@p.S28L 1 0.173913043 ENSG00000154764 chr3:13875162-13875162;G/A missense_variant False WNT7A@p.K40N 1 0.8 ENSG00000154764 chr3:13875125-13875125;C/A missense_variant False WNT7A@p.E72K 1 0.321428571 ENSG00000154764 chr3:13875031-13875031;C/T missense_variant False WNT7A@p.E171D 1 0.423387097 ENSG00000154764 chr3:13854589-13854589;C/A missense_variant False WNT6@p.E338Q 1 0.157894737 ENSG00000115596 chr2:218873759-218873759;G/C missense_variant False WNT5B@p.R148W 1 0.4 ENSG00000111186 chr12:1639797-1639797;C/T missense_variant False WRAP73@p.C453F 1 0.229508197 ENSG00000116213 chr1:3631000-3631000;C/A missense_variant False WRAP73@p.S127C 1 0.22826087 ENSG00000116213 chr1:3638782-3638782;G/C missense_variant False WRN@p.R389K 1 0.62962963 ENSG00000165392 chr8:31081193-31081193;G/A missense_variant False WRN@p.S596C 1 0.12371134 ENSG00000165392 chr8:31090900-31090900;C/G missense_variant False WRN@p.T1006P 1 0.323076923 ENSG00000165392 chr8:31141478-31141478;A/C missense_variant False WRN@p.T1011Gfs*17 1 0.142857143 ENSG00000165392 chr8:31141482-31141483;-/CAAGGAT frameshift_variant False WRN@p.Y436C 1 0.341463415 ENSG00000165392 chr8:31083736-31083736;A/G missense_variant False WRNIP1@p.Q647E 1 0.2 ENSG00000124535 chr6:2785223-2785223;C/G missense_variant False WSB1@p.P299S 1 0.098712446 ENSG00000109046 chr17:27310071-27310071;C/T missense_variant False WSB2@p.D208E 1 0.377777778 ENSG00000176871 chr12:118038324-118038324;G/C missense_variant False WSB2@p.E28Q 1 0.430434783 ENSG00000176871 chr12:118052410-118052410;C/G missense_variant False WSB2@p.Q92H 1 0.102189781 ENSG00000176871 chr12:118043284-118043284;C/G missense_variant False WSB2@p.R179H 1 0.202764977 ENSG00000176871 chr12:118042864-118042864;C/T missense_variant False WSCD1@p.C210S 1 0.228571429 ENSG00000179314 chr17:6090407-6090407;G/C missense_variant False WSCD1@p.E213Q 1 0.19047619 ENSG00000179314 chr17:6090415-6090415;G/C missense_variant False WSCD1@p.R13C 1 0.438202247 ENSG00000179314 chr17:6080695-6080695;C/T missense_variant False WSCD2@p.I543M 1 0.260869565 ENSG00000075035 chr12:108248274-108248274;C/G missense_variant False WNK1@p.A1977V 1 0.387283237 ENSG00000060237 chr12:896417-896417;C/T missense_variant False WLS@p.L22H 1 0.188118812 ENSG00000116729 chr1:68232235-68232235;A/T missense_variant False WIZ@p.R876Q 1 0.24137931 ENSG00000011451 chr19:15436919-15436919;C/T missense_variant False WDR81@p.E1508K 1 0.293577982 ENSG00000167716 chr17:1733559-1733559;G/A missense_variant False WDR81@p.V1132Wfs*15 1 0.270833333 ENSG00000167716 chr17:1728348-1728348;C/- frameshift_variant False WDR81@p.S1242C 1 0.277777778 ENSG00000167716 chr17:1730437-1730437;C/G missense_variant False WDR81@p.R1697S 1 0.454545455 ENSG00000167716 chr17:1734126-1734126;C/A missense_variant False WDR81@p.P1607L 1 0.1875 ENSG00000167716 chr17:1733857-1733857;C/T missense_variant False WDR81@p.I1368M 1 0.075757576 ENSG00000167716 chr17:1731205-1731205;C/G missense_variant False WDR81@p.G1914S 1 0.266666667 ENSG00000167716 chr17:1737599-1737599;G/A missense_variant False WDR81@p.E1371K 1 0.142857143 ENSG00000167716 chr17:1731212-1731212;G/A missense_variant False WDR7@p.D98N 1 0.077981651 ENSG00000091157 chr18:56681338-56681338;G/A missense_variant False WDR81@p.A1471T 1 0.257142857 ENSG00000167716 chr17:1732753-1732753;G/A missense_variant False WDR7@p.S350C 1 0.12 ENSG00000091157 chr18:56694701-56694701;C/G missense_variant False WDR7@p.S1116C 1 0.064102564 ENSG00000091157 chr18:56879986-56879986;C/G missense_variant False WDR7@p.R1364L 1 0.181818182 ENSG00000091157 chr18:56962456-56962456;G/T missense_variant False WDR7@p.R1151Q 1 0.219512195 ENSG00000091157 chr18:56880091-56880091;G/A missense_variant False WDR7@p.R1014Q 1 0.193548387 ENSG00000091157 chr18:56779524-56779524;G/A missense_variant False WDR81@p.V1802M 1 0.277227723 ENSG00000167716 chr17:1736117-1736117;G/A missense_variant False WDR82@p.E169K 1 0.242424242 ENSG00000164091 chr3:52260423-52260423;C/T missense_variant False WDR83@p.E69Q 1 0.05 ENSG00000123154 chr19:12670078-12670078;G/C missense_variant False WDR83@p.Q301H 1 0.333333333 ENSG00000123154 chr19:12675627-12675627;G/T missense_variant False WDR83@p.R216Q 1 0.203125 ENSG00000123154 chr19:12673080-12673080;G/A missense_variant False WDR83@p.R29L 1 0.25 ENSG00000123154 chr19:12669876-12669876;G/T missense_variant False WDR88@p.Q243H 1 0.166666667 ENSG00000166359 chr19:33151230-33151230;G/C missense_variant False WDR90@p.D506H 1 0.28 ENSG00000161996 chr16:655107-655107;G/C missense_variant False WDR90@p.E1424K 1 0.666666667 ENSG00000161996 chr16:662803-662803;G/A missense_variant False WDR90@p.E929K 1 0.307692308 ENSG00000161996 chr16:658543-658543;G/A missense_variant False WDR90@p.L1303M 1 0.484949833 ENSG00000161996 chr16:661933-661933;C/A missense_variant False WDR90@p.V1603F 1 0.2625 ENSG00000161996 chr16:666521-666521;G/T missense_variant False WDR90@p.V1603I 1 0.2 ENSG00000161996 chr16:666521-666521;G/A missense_variant False WDR90@p.Y1662C 1 0.318181818 ENSG00000161996 chr16:666773-666773;A/G missense_variant False WDR91@p.I565M 1 0.24137931 ENSG00000105875 chr7:135189417-135189417;G/C missense_variant False WDR91@p.Q189E 1 0.119047619 ENSG00000105875 chr7:135207149-135207149;G/C missense_variant False WDR91@p.S323T 1 0.4375 ENSG00000105875 chr7:135198076-135198076;A/T missense_variant False WDR7@p.E756G 1 0.265306122 ENSG00000091157 chr18:56756860-56756860;A/G missense_variant False WDR7@p.D1405N 1 0.196969697 ENSG00000091157 chr18:57020793-57020793;G/A missense_variant False WDR93@p.E30Q 1 0.189189189 ENSG00000140527 chr15:89701834-89701834;G/C missense_variant False WDR6@p.Y682N 1 0.327586207 ENSG00000178252 chr3:49013578-49013578;T/A missense_variant False WDR70@p.S12L 1 0.2 ENSG00000082068 chr5:37379498-37379498;C/T missense_variant False WDR70@p.R603Q 1 0.08 ENSG00000082068 chr5:37726976-37726976;G/A missense_variant False WDR70@p.R35H 1 0.376 ENSG00000082068 chr5:37381614-37381614;G/A missense_variant False WDR70@p.P335S 1 0.101123596 ENSG00000082068 chr5:37605149-37605149;C/T missense_variant False WDR70@p.M25I 1 0.416666667 ENSG00000082068 chr5:37379538-37379538;G/A missense_variant False WDR70@p.K611N 1 0.087804878 ENSG00000082068 chr5:37727001-37727001;A/T missense_variant False WDR6@p.S823G 1 0.153846154 ENSG00000178252 chr3:49014001-49014001;A/G missense_variant False WDR77@p.V326I 1 0.258823529 ENSG00000116455 chr1:111441283-111441283;C/T missense_variant False WDR6@p.S14L 1 0.4 ENSG00000178252 chr3:49007472-49007472;C/T missense_variant False WDR6@p.R643W 1 0.210526316 ENSG00000178252 chr3:49013461-49013461;C/T missense_variant False WDR6@p.R416C 1 0.15625 ENSG00000178252 chr3:49012780-49012780;C/T missense_variant False WDR6@p.P873S 1 0.417910448 ENSG00000178252 chr3:49014244-49014244;C/T missense_variant False WDR6@p.E1036Q 1 0.160714286 ENSG00000178252 chr3:49015028-49015028;G/C missense_variant False WDR6@p.D728N 1 0.382978723 ENSG00000178252 chr3:49013716-49013716;G/A missense_variant False WDR72@p.D810Y 1 0.19047619 ENSG00000166415 chr15:53615778-53615778;C/A missense_variant False WDR72@p.H680L 1 0.216216216 ENSG00000166415 chr15:53616167-53616167;T/A missense_variant False WDR72@p.I619N 1 0.475409836 ENSG00000166415 chr15:53665678-53665678;A/T missense_variant False WDR72@p.M329I 1 0.307692308 ENSG00000166415 chr15:53706042-53706042;C/T missense_variant False WDR72@p.R298K 1 0.461538462 ENSG00000166415 chr15:53710918-53710918;C/T missense_variant False WDR72@p.R896Q 1 0.260869565 ENSG00000166415 chr15:53615519-53615519;C/T missense_variant False WDR73@p.F142L 1 0.5 ENSG00000177082 chr15:84646275-84646275;G/C missense_variant False WDR73@p.R256W 1 0.4375 ENSG00000177082 chr15:84645588-84645588;G/A missense_variant False WDR74@p.D342N 1 0.142857143 ENSG00000133316 chr11:62833086-62833086;C/T missense_variant False WDR75@p.E614K 1 0.346405229 ENSG00000115368 chr2:189470096-189470096;G/A missense_variant False WDR75@p.I624M 1 0.341463415 ENSG00000115368 chr2:189470128-189470128;C/G missense_variant False WDR76@p.E163K 1 0.216216216 ENSG00000092470 chr15:43835085-43835085;G/A missense_variant False WDR76@p.L134F 1 0.132075472 ENSG00000092470 chr15:43828304-43828304;C/T missense_variant False WDR76@p.S102C 1 0.11627907 ENSG00000092470 chr15:43828209-43828209;C/G missense_variant False WDR76@p.S171L 1 0.245614035 ENSG00000092470 chr15:43835110-43835110;C/T missense_variant False WDR76@p.Y463C 1 0.441176471 ENSG00000092470 chr15:43857142-43857142;A/G missense_variant False WDR77@p.E110K 1 0.322580645 ENSG00000116455 chr1:111447550-111447550;C/T missense_variant False WDR93@p.C362Y 1 0.280701754 ENSG00000140527 chr15:89729055-89729055;G/A missense_variant False WDR93@p.E73K 1 0.185185185 ENSG00000140527 chr15:89701963-89701963;G/A missense_variant False WIZ@p.G1430V 1 0.302325581 ENSG00000011451 chr19:15427059-15427059;C/A missense_variant False WIF1@p.C209Y 1 0.142857143 ENSG00000156076 chr12:65067703-65067703;C/T missense_variant False WIPF1@p.S189T 1 0.287878788 ENSG00000115935 chr2:174572239-174572239;C/G missense_variant False WIPF1@p.P264H 1 0.259259259 ENSG00000115935 chr2:174572014-174572014;G/T missense_variant False WIPF1@p.D443H 1 0.163265306 ENSG00000115935 chr2:174567876-174567876;C/G missense_variant False WIPF1@p.A306V 1 0.238095238 ENSG00000115935 chr2:174571888-174571888;G/A missense_variant False WIF1@p.Q169E 1 0.465346535 ENSG00000156076 chr12:65068797-65068797;G/C missense_variant False WIF1@p.F150S 1 0.150943396 ENSG00000156076 chr12:65068853-65068853;A/G missense_variant False WIF1@p.A352P 1 0.402985075 ENSG00000156076 chr12:65051435-65051435;C/G missense_variant False WHAMM@p.E695K 1 0.099099099 ENSG00000156232 chr15:82831040-82831040;G/A missense_variant False WHRN@p.S248L 1 0.434782609 ENSG00000095397 chr9:114478647-114478647;G/A missense_variant False WHRN@p.R450G 1 0.164383562 ENSG00000095397 chr9:114424402-114424402;G/C missense_variant False WHRN@p.R144W 1 0.111111111 ENSG00000095397 chr9:114504372-114504372;G/A missense_variant False WHRN@p.E427V 1 0.333333333 ENSG00000095397 chr9:114424470-114424470;T/A missense_variant False WHAMM@p.Q574H 1 0.1125 ENSG00000156232 chr15:82830679-82830679;G/C missense_variant False WHAMM@p.P735S 1 0.44 ENSG00000156232 chr15:82833309-82833309;C/T missense_variant False WIPF2@p.P13L 1 0.375 ENSG00000171475 chr17:40256497-40256497;C/T missense_variant False WIPF2@p.P252T 1 0.255434783 ENSG00000171475 chr17:40264930-40264930;C/A missense_variant False WIPF2@p.R256L 1 0.112149533 ENSG00000171475 chr17:40264943-40264943;G/T missense_variant False WIPF2@p.R356Q 1 0.117647059 ENSG00000171475 chr17:40273886-40273886;G/A missense_variant False WIPF2@p.S160C 1 0.378787879 ENSG00000171475 chr17:40264655-40264655;C/G missense_variant False WIPF2@p.S175F 1 0.107692308 ENSG00000171475 chr17:40264700-40264700;C/T missense_variant False WIPF2@p.V127E 1 0.191780822 ENSG00000171475 chr17:40264556-40264556;T/A missense_variant False WIPF3@p.G56E 1 0.142857143 ENSG00000122574 chr7:29875906-29875906;G/A missense_variant False WIPF3@p.P136S 1 0.25 ENSG00000122574 chr7:29883900-29883900;C/T missense_variant False WIPI2@p.E380Q 1 0.333333333 ENSG00000157954 chr7:5229624-5229624;G/C missense_variant False WIPI2@p.I190S 1 0.569767442 ENSG00000157954 chr7:5217180-5217180;T/G missense_variant False WIPI2@p.R416T 1 0.1875 ENSG00000157954 chr7:5229733-5229733;G/C missense_variant False WIZ@p.D1870N 1 0.285714286 ENSG00000011451 chr19:15423138-15423138;C/T missense_variant False WIZ@p.E1417K 1 0.333333333 ENSG00000011451 chr19:15427099-15427099;C/T missense_variant False WIZ@p.E1495K 1 0.136363636 ENSG00000011451 chr19:15425652-15425652;C/T missense_variant False WIZ@p.E1842Q 1 0.357142857 ENSG00000011451 chr19:15423222-15423222;C/G missense_variant False WIZ@p.E849K 1 0.126315789 ENSG00000011451 chr19:15437001-15437001;C/T missense_variant False WHAMM@p.G209E 1 0.333333333 ENSG00000156232 chr15:82813119-82813119;G/A missense_variant False WFS1@p.S654L 1 0.185520362 ENSG00000109501 chr4:6301756-6301756;C/T missense_variant False WDR93@p.E77Q 1 0.290322581 ENSG00000140527 chr15:89701975-89701975;G/C missense_variant False WDTC1@p.Q319H 1 0.243902439 ENSG00000142784 chr1:27297055-27297055;G/C missense_variant False WEE1@p.R256T 1 0.376344086 ENSG00000166483 chr11:9576078-9576078;G/C missense_variant False WEE1@p.R254del 1 0.25 ENSG00000166483 chr11:9576063-9576065;GTC/- inframe_deletion False WEE1@p.Q375H 1 0.203389831 ENSG00000166483 chr11:9577247-9577247;G/T missense_variant False WEE1@p.E449K 1 0.144927536 ENSG00000166483 chr11:9585314-9585314;G/A missense_variant False WEE1@p.E368K 1 0.150289017 ENSG00000166483 chr11:9577224-9577224;G/A missense_variant False WEE1@p.E218K 1 0.152941176 ENSG00000166483 chr11:9575963-9575963;G/A missense_variant False WDTC1@p.L297F 1 0.091836735 ENSG00000142784 chr1:27296343-27296343;G/C missense_variant False WFS1@p.P279L 1 0.1375 ENSG00000109501 chr4:6295164-6295164;C/T missense_variant False WDSUB1@p.F62L 1 0.3125 ENSG00000196151 chr2:159282884-159282884;G/C missense_variant False WDR93@p.Q8H 1 0.251231527 ENSG00000140527 chr15:89701770-89701770;G/C missense_variant False WDR93@p.P534L 1 0.215189873 ENSG00000140527 chr15:89735546-89735546;C/T missense_variant False WDR93@p.L67R 1 0.288461538 ENSG00000140527 chr15:89701946-89701946;T/G missense_variant False WDR93@p.H319Y 1 0.24137931 ENSG00000140527 chr15:89727231-89727231;C/T missense_variant False WDR93@p.G455E 1 0.297619048 ENSG00000140527 chr15:89733039-89733039;G/A missense_variant False WEE1@p.R361P 1 0.223529412 ENSG00000166483 chr11:9577204-9577204;G/C missense_variant False WEE1@p.S204G 1 0.320512821 ENSG00000166483 chr11:9575921-9575921;A/G missense_variant False WEE2@p.P84S 1 0.448275862 ENSG00000214102 chr7:141709008-141709008;C/T missense_variant False WEE2@p.R482K 1 0.242677824 ENSG00000214102 chr7:141727356-141727356;G/A missense_variant False WFDC12@p.E29D 1 0.114583333 ENSG00000168703 chr20:45124258-45124258;C/G missense_variant False WFDC13@p.K25Q 1 0.148148148 ENSG00000168634 chr20:45702196-45702196;A/C missense_variant False WFDC3@p.A11E 1 0.321428571 ENSG00000124116 chr20:45789944-45789944;G/T missense_variant False WFDC3@p.E42Q 1 0.066202091 ENSG00000124116 chr20:45789018-45789018;C/G missense_variant False WFDC3@p.L174V 1 0.07518797 ENSG00000124116 chr20:45775576-45775576;G/C missense_variant False WFDC6@p.E26Q 1 0.21875 ENSG00000243543 chr20:45539332-45539332;C/G missense_variant False WFDC8@p.D114H 1 0.267716535 ENSG00000158901 chr20:45555806-45555806;C/G missense_variant False WFDC8@p.R203C 1 0.091549296 ENSG00000158901 chr20:45552145-45552145;G/A missense_variant False WFIKKN2@p.E315D 1 0.24 ENSG00000173714 chr17:50840233-50840233;G/C missense_variant False WFIKKN2@p.E315K 1 0.105882353 ENSG00000173714 chr17:50840231-50840231;G/A missense_variant False WFIKKN2@p.G418D 1 0.339285714 ENSG00000173714 chr17:50840541-50840541;G/A missense_variant False WFIKKN2@p.L573F 1 0.486486486 ENSG00000173714 chr17:50841005-50841005;C/T missense_variant False WFS1@p.A422T 1 0.142857143 ENSG00000109501 chr4:6301059-6301059;G/A missense_variant False ZBTB43@p.G125E 1 0.395348837 ENSG00000169155 chr9:126832883-126832883;G/A missense_variant False ZBTB45@p.C491Y 1 0.285714286 ENSG00000119574 chr19:58514118-58514118;C/T missense_variant False ZNF226@p.E96Q 1 0.129032258 ENSG00000167380 chr19:44175548-44175548;G/C missense_variant False ZMIZ1@p.G1019A 1 0.27 ENSG00000108175 chr10:79311144-79311144;G/C missense_variant False ZMIZ2@p.H837Y 1 0.105263158 ENSG00000122515 chr7:44766517-44766517;C/T missense_variant False ZMIZ2@p.E649K 1 0.24137931 ENSG00000122515 chr7:44764957-44764957;G/A missense_variant False ZMIZ2@p.D894N 1 0.659574468 ENSG00000122515 chr7:44767540-44767540;G/A missense_variant False ZMIZ1@p.V504L 1 0.343971631 ENSG00000108175 chr10:79298424-79298424;G/T missense_variant False ZMIZ1@p.S719A 1 0.277777778 ENSG00000108175 chr10:79304044-79304044;T/G missense_variant False ZMIZ1@p.S627L 1 0.545454545 ENSG00000108175 chr10:79300803-79300803;C/T missense_variant False ZMIZ1@p.E1065Q 1 0.173076923 ENSG00000108175 chr10:79312738-79312738;G/C missense_variant False ZMIZ2@p.M7V 1 0.357142857 ENSG00000122515 chr7:44756268-44756268;A/G missense_variant False ZMIZ1@p.D729A 1 0.217391304 ENSG00000108175 chr10:79304075-79304075;A/C missense_variant False ZMIZ1@p.D535N 1 0.278688525 ENSG00000108175 chr10:79298517-79298517;G/A missense_variant False ZMIZ1@p.D1058N 1 0.310160428 ENSG00000108175 chr10:79312717-79312717;G/A missense_variant False ZMIZ1@p.A291T 1 0.428571429 ENSG00000108175 chr10:79292270-79292270;G/A missense_variant False ZMAT4@p.P132L 1 0.299242424 ENSG00000165061 chr8:40674886-40674886;G/A missense_variant False ZMAT4@p.D69G 1 0.170731707 ENSG00000165061 chr8:40697388-40697388;T/C missense_variant False ZMIZ2@p.I720N 1 0.138888889 ENSG00000122515 chr7:44765496-44765496;T/A missense_variant False ZMIZ2@p.R543H 1 0.07057257 ENSG00000122515 chr7:44762912-44762912;G/A missense_variant False ZNF106@p.G1750E 1 0.321428571 ENSG00000103994 chr15:42422556-42422556;C/T missense_variant False ZMPSTE24@p.L185V 1 0.19047619 ENSG00000084073 chr1:40270053-40270053;C/G missense_variant False ZMYM1@p.G107R 1 0.241666667 ENSG00000197056 chr1:35097466-35097466;G/C missense_variant False ZMYM1@p.F733L 1 0.202898551 ENSG00000197056 chr1:35114029-35114029;C/G missense_variant False ZMYM1@p.D707N 1 0.205479452 ENSG00000197056 chr1:35113949-35113949;G/A missense_variant False ZMYM1@p.C800Y 1 0.426666667 ENSG00000197056 chr1:35114229-35114229;G/A missense_variant False ZMPSTE24@p.S261F 1 0.103960396 ENSG00000084073 chr1:40281355-40281355;C/T missense_variant False ZMPSTE24@p.S258C 1 0.194444444 ENSG00000084073 chr1:40281346-40281346;C/G missense_variant False ZMPSTE24@p.K74I 1 0.344537815 ENSG00000084073 chr1:40260936-40260936;A/T missense_variant False ZMIZ2@p.S321C 1 0.310344828 ENSG00000122515 chr7:44759429-44759429;C/G missense_variant False ZMPSTE24@p.F445L 1 0.046692607 ENSG00000084073 chr1:40292576-40292576;C/A missense_variant False ZMPSTE24@p.F226L 1 0.283018868 ENSG00000084073 chr1:40271944-40271944;C/A missense_variant False ZMPSTE24@p.E239K 1 0.168067227 ENSG00000084073 chr1:40271981-40271981;G/A missense_variant False ZMIZ2@p.Y182C 1 0.5 ENSG00000122515 chr7:44757554-44757554;A/G missense_variant False ZMIZ2@p.S597Y 1 0.16969697 ENSG00000122515 chr7:44763343-44763343;C/A missense_variant False ZMIZ2@p.S383N 1 0.494117647 ENSG00000122515 chr7:44760501-44760501;G/A missense_variant False ZMAT4@p.D187H 1 0.141025641 ENSG00000165061 chr8:40674722-40674722;C/G missense_variant False ZMAT3@p.P129S 1 0.050632911 ENSG00000172667 chr3:179030885-179030885;G/A missense_variant False ZMAT3@p.P110S 1 0.146341463 ENSG00000172667 chr3:179030942-179030942;G/A missense_variant False ZKSCAN5@p.G727D 1 0.336065574 ENSG00000196652 chr7:99531909-99531909;G/A missense_variant False ZKSCAN5@p.S19F 1 0.168539326 ENSG00000196652 chr7:99506100-99506100;C/T missense_variant False ZKSCAN5@p.R365W 1 0.137614679 ENSG00000196652 chr7:99526133-99526133;C/T missense_variant False ZKSCAN5@p.Q802K 1 0.232044199 ENSG00000196652 chr7:99532133-99532133;C/A missense_variant False ZKSCAN5@p.P195L 1 0.246268657 ENSG00000196652 chr7:99519857-99519857;C/T missense_variant False ZKSCAN5@p.M808I 1 0.166666667 ENSG00000196652 chr7:99532153-99532153;G/A missense_variant False ZKSCAN5@p.K709N 1 0.126760563 ENSG00000196652 chr7:99531856-99531856;G/T missense_variant False ZKSCAN5@p.E133Q 1 0.216216216 ENSG00000196652 chr7:99506441-99506441;G/C missense_variant False ZMAT2@p.E148K 1 0.083333333 ENSG00000146007 chr5:140704557-140704557;G/A missense_variant False ZKSCAN5@p.D731H 1 0.106060606 ENSG00000196652 chr7:99531920-99531920;G/C missense_variant False ZKSCAN5@p.D168V 1 0.363636364 ENSG00000196652 chr7:99512541-99512541;A/T missense_variant False ZKSCAN4@p.A46T 1 0.475 ENSG00000187626 chr6:28251845-28251845;C/T missense_variant False ZKSCAN3@p.R528K 1 0.138888889 ENSG00000189298 chr6:28366251-28366251;G/A missense_variant False ZKSCAN3@p.H417Y 1 0.12244898 ENSG00000189298 chr6:28365917-28365917;C/T missense_variant False ZKSCAN3@p.E371K 1 0.054054054 ENSG00000189298 chr6:28365779-28365779;G/A missense_variant False ZKSCAN5@p.T738P 1 0.5 ENSG00000196652 chr7:99531941-99531941;A/C missense_variant False ZKSCAN7@p.D540N 1 0.260416667 ENSG00000196345 chr3:44570728-44570728;G/A missense_variant False ZKSCAN7@p.E555K 1 0.131313131 ENSG00000196345 chr3:44570773-44570773;G/A missense_variant False ZKSCAN7@p.G501E 1 0.079207921 ENSG00000196345 chr3:44570612-44570612;G/A missense_variant False ZKSCAN7@p.H264Y 1 0.5 ENSG00000196345 chr3:44568412-44568412;C/T missense_variant False ZKSCAN7@p.K468E 1 0.818181818 ENSG00000196345 chr3:44570512-44570512;A/G missense_variant False ZKSCAN7@p.Q133H 1 0.234042553 ENSG00000196345 chr3:44557446-44557446;G/C missense_variant False ZKSCAN7@p.R487T 1 0.209090909 ENSG00000196345 chr3:44570570-44570570;G/C missense_variant False ZKSCAN7@p.R80H 1 0.259259259 ENSG00000196345 chr3:44557286-44557286;G/A missense_variant False ZKSCAN7@p.S676C 1 0.114285714 ENSG00000196345 chr3:44571137-44571137;C/G missense_variant False ZKSCAN8@p.E265Q 1 0.303571429 ENSG00000198315 chr6:28153073-28153073;G/C missense_variant False ZKSCAN8@p.E298Q 1 0.242857143 ENSG00000198315 chr6:28153172-28153172;G/C missense_variant False ZKSCAN8@p.E29K 1 0.35483871 ENSG00000198315 chr6:28148492-28148492;G/A missense_variant False ZMAT1@p.K540M 1 0.532786885 ENSG00000166432 chrX:101883808-101883808;T/A missense_variant False ZMAT1@p.M128I 1 0.475409836 ENSG00000166432 chrX:101897989-101897989;C/T missense_variant False ZMAT1@p.P263S 1 0.455172414 ENSG00000166432 chrX:101884640-101884640;G/A missense_variant False ZMAT1@p.S557A 1 0.208 ENSG00000166432 chrX:101883758-101883758;A/C missense_variant False ZMYM1@p.R492K 1 0.19047619 ENSG00000197056 chr1:35113305-35113305;G/A missense_variant False ZMYM1@p.R938T 1 0.080645161 ENSG00000197056 chr1:35114643-35114643;G/C missense_variant False ZMYM1@p.S1088Y 1 0.191176471 ENSG00000197056 chr1:35115093-35115093;C/A missense_variant False ZMYND12@p.E89Q 1 0.163636364 ENSG00000066185 chr1:42448626-42448626;C/G missense_variant False ZMYND8@p.E137K 1 0.28189911 ENSG00000101040 chr20:47294764-47294764;C/T missense_variant False ZMYND8@p.D402H 1 0.241758242 ENSG00000101040 chr20:47276530-47276530;C/G missense_variant False ZMYND19@p.R75Q 1 0.144736842 ENSG00000165724 chr9:137587102-137587102;C/T missense_variant False ZMYND19@p.E222K 1 0.224137931 ENSG00000165724 chr9:137582563-137582563;C/T missense_variant False ZMYND19@p.E161K 1 0.17791411 ENSG00000165724 chr9:137583042-137583042;C/T missense_variant False ZMYND15@p.S320N 1 0.322368421 ENSG00000141497 chr17:4742046-4742046;G/A missense_variant False ZMYND12@p.E151K 1 0.140625 ENSG00000066185 chr1:42439999-42439999;C/T missense_variant False ZMYM6@p.F298L 1 0.08 ENSG00000163867 chr1:35012483-35012483;G/C missense_variant False ZMYND11@p.Q521H 1 0.133333333 ENSG00000015171 chr10:248965-248965;G/C missense_variant False ZMYND10@p.E274K 1 0.347826087 ENSG00000004838 chr3:50342450-50342450;C/T missense_variant False ZMYM6@p.S459F 1 0.31147541 ENSG00000163867 chr1:35010563-35010563;G/A missense_variant False ZMYM6@p.P84S 1 0.131578947 ENSG00000163867 chr1:35019531-35019531;G/A missense_variant False ZMYM6@p.L436V 1 0.112903226 ENSG00000163867 chr1:35010793-35010793;G/C missense_variant False ZMYM6@p.L1291F 1 0.352941176 ENSG00000163867 chr1:34987209-34987209;C/G missense_variant False ZMYND8@p.E643D 1 0.212121212 ENSG00000101040 chr20:47246303-47246303;C/G missense_variant False ZMYND8@p.F339L 1 0.141843972 ENSG00000101040 chr20:47276717-47276717;G/C missense_variant False ZMYND8@p.I252M 1 0.127659574 ENSG00000101040 chr20:47283637-47283637;G/C missense_variant False ZMYND8@p.P65S 1 0.204545455 ENSG00000101040 chr20:47298929-47298929;G/A missense_variant False ZMYND8@p.P758L 1 0.05859375 ENSG00000101040 chr20:47239090-47239090;G/A missense_variant False ZMYND8@p.P812T 1 0.097560976 ENSG00000101040 chr20:47238929-47238929;G/T missense_variant False ZMYND8@p.R116I 1 0.606557377 ENSG00000101040 chr20:47298775-47298775;C/A missense_variant False ZMYND8@p.S331C 1 0.158415842 ENSG00000101040 chr20:47276742-47276742;G/C missense_variant False ZMYND8@p.S7F 1 0.365269461 ENSG00000101040 chr20:47347861-47347861;G/A missense_variant False ZMYND8@p.T197A 1 0.5 ENSG00000101040 chr20:47291807-47291807;T/C missense_variant False ZMYND8@p.Y1045H 1 0.22295082 ENSG00000101040 chr20:47224380-47224380;A/G missense_variant False ZNF100@p.E160K 1 0.120689655 ENSG00000197020 chr19:21727834-21727834;C/T missense_variant False ZNF100@p.E488Q 1 0.132743363 ENSG00000197020 chr19:21726850-21726850;C/G missense_variant False ZNF100@p.I505V 1 0.511904762 ENSG00000197020 chr19:21726799-21726799;T/C missense_variant False ZNF106@p.D1010dup 1 0.147435897 ENSG00000103994 chr15:42448106-42448107;-/CAT inframe_insertion False ZNF106@p.D421H 1 0.050228311 ENSG00000103994 chr15:42450942-42450942;C/G missense_variant False ZNF106@p.E1259K 1 0.105263158 ENSG00000103994 chr15:42439733-42439733;C/T missense_variant False ZMYM6@p.K1143T 1 0.636363636 ENSG00000163867 chr1:34987654-34987654;T/G missense_variant False ZMYM6@p.E175K 1 0.2 ENSG00000163867 chr1:35015068-35015068;C/T missense_variant False ZMYM1@p.S114F 1 0.243697479 ENSG00000197056 chr1:35097488-35097488;C/T missense_variant False ZMYM3@p.D1088N 1 0.333333333 ENSG00000147130 chrX:71244320-71244320;C/T missense_variant False ZMYM3@p.I873M 1 0.693877551 ENSG00000147130 chrX:71246052-71246052;G/C missense_variant False ZMYM3@p.G75E 1 0.263157895 ENSG00000147130 chrX:71253032-71253032;C/T missense_variant False ZMYM3@p.E943K 1 0.476190476 ENSG00000147130 chrX:71245701-71245701;C/T missense_variant False ZMYM3@p.E252K 1 0.2 ENSG00000147130 chrX:71251202-71251202;C/T missense_variant False ZMYM3@p.D555H 1 0.636363636 ENSG00000147130 chrX:71248760-71248760;C/G missense_variant False ZMYM3@p.D255H 1 0.671428571 ENSG00000147130 chrX:71251193-71251193;C/G missense_variant False ZMYM2@p.V388L 1 0.302325581 ENSG00000121741 chr13:20005102-20005102;G/C missense_variant False ZMYM6@p.A407T 1 0.377358491 ENSG00000163867 chr1:35010880-35010880;C/T missense_variant False ZMYM2@p.T877I 1 0.317073171 ENSG00000121741 chr13:20059453-20059453;C/T missense_variant False ZMYM2@p.Q496E 1 0.192307692 ENSG00000121741 chr13:20006560-20006560;C/G missense_variant False ZMYM2@p.E132D 1 0.211764706 ENSG00000121741 chr13:19993468-19993468;G/C missense_variant False ZMYM2@p.E115K 1 0.304347826 ENSG00000121741 chr13:19993415-19993415;G/A missense_variant False ZMYM1@p.V349Rfs*12 1 0.173913043 ENSG00000197056 chr1:35111854-35111864;AGTGTCATTGG/- frameshift_variant False ZMYM1@p.S286L 1 0.213836478 ENSG00000197056 chr1:35110343-35110343;C/T missense_variant False ZMYM3@p.S172F 1 0.777777778 ENSG00000147130 chrX:71252741-71252741;G/A missense_variant False ZMYM4@p.D40H 1 0.078947368 ENSG00000146463 chr1:35358957-35358957;G/C missense_variant False ZMYM4@p.E1293Q 1 0.048780488 ENSG00000146463 chr1:35408088-35408088;G/C missense_variant False ZMYM4@p.E1540Q 1 0.254901961 ENSG00000146463 chr1:35419648-35419648;G/C missense_variant False ZMYM4@p.E718K 1 0.3125 ENSG00000146463 chr1:35387493-35387493;G/A missense_variant False ZMYM4@p.L157V 1 0.176470588 ENSG00000146463 chr1:35359308-35359308;C/G missense_variant False ZMYM4@p.L994V 1 0.462365591 ENSG00000146463 chr1:35396620-35396620;C/G missense_variant False ZMYM4@p.P1102S 1 0.158333333 ENSG00000146463 chr1:35398914-35398914;C/T missense_variant False ZMYM4@p.Q999E 1 0.325581395 ENSG00000146463 chr1:35396635-35396635;C/G missense_variant False ZMYM4@p.S65L 1 0.231707317 ENSG00000146463 chr1:35359033-35359033;C/T missense_variant False ZMYM4@p.S745L 1 0.100840336 ENSG00000146463 chr1:35387575-35387575;C/T missense_variant False ZMYM4@p.T1519A 1 0.328358209 ENSG00000146463 chr1:35419585-35419585;A/G missense_variant False ZMYM4@p.V990G 1 0.397727273 ENSG00000146463 chr1:35396609-35396609;T/G missense_variant False ZMYM5@p.D586E 1 0.538461538 ENSG00000132950 chr13:19824729-19824729;A/C missense_variant False ZMYM5@p.R224C 1 0.284090909 ENSG00000132950 chr13:19838902-19838902;G/A missense_variant False ZMYM5@p.S317F 1 0.183333333 ENSG00000132950 chr13:19837744-19837744;G/A missense_variant False ZMYM5@p.S65C 1 0.901234568 ENSG00000132950 chr13:19851987-19851987;G/C missense_variant False ZKSCAN2@p.S38L 1 0.169230769 ENSG00000155592 chr16:25257015-25257015;G/A missense_variant False ZKSCAN2@p.R901T 1 0.311111111 ENSG00000155592 chr16:25240018-25240018;C/G missense_variant False ZKSCAN2@p.R786K 1 0.183908046 ENSG00000155592 chr16:25240363-25240363;C/T missense_variant False ZFYVE9@p.S640C 1 0.182432432 ENSG00000157077 chr1:52239336-52239336;C/G missense_variant False ZGPAT@p.E463K 1 0.148148148 ENSG00000197114 chr20:63735494-63735494;G/A missense_variant False ZGPAT@p.E3K 1 0.162790698 ENSG00000197114 chr20:63708587-63708587;G/A missense_variant False ZGLP1@p.E138K 1 0.176470588 ENSG00000220201 chr19:10308270-10308270;C/T missense_variant False ZFYVE9@p.Y1375C 1 0.094594595 ENSG00000157077 chr1:52346067-52346067;A/G missense_variant False ZFYVE9@p.W1066S 1 0.207407407 ENSG00000157077 chr1:52293624-52293624;G/C missense_variant False ZFYVE9@p.T405S 1 0.280991736 ENSG00000157077 chr1:52238631-52238631;C/G missense_variant False ZFYVE9@p.S627L 1 0.133333333 ENSG00000157077 chr1:52239297-52239297;C/T missense_variant False ZFYVE9@p.P300A 1 0.237623762 ENSG00000157077 chr1:52238315-52238315;C/G missense_variant False ZFYVE9@p.S596L 1 0.130434783 ENSG00000157077 chr1:52239204-52239204;C/T missense_variant False ZFYVE9@p.S475C 1 0.67826087 ENSG00000157077 chr1:52238841-52238841;C/G missense_variant False ZFYVE9@p.S396F 1 0.167701863 ENSG00000157077 chr1:52238604-52238604;C/T missense_variant False ZFYVE9@p.S257F 1 0.221088435 ENSG00000157077 chr1:52238187-52238187;C/T missense_variant False ZFYVE9@p.R218T 1 0.180952381 ENSG00000157077 chr1:52238070-52238070;G/C missense_variant False ZFYVE9@p.R1095W 1 0.277777778 ENSG00000157077 chr1:52295927-52295927;C/T missense_variant False ZGPAT@p.I363M 1 0.107142857 ENSG00000197114 chr20:63735196-63735196;C/G missense_variant False ZGPAT@p.T271A 1 0.03525641 ENSG00000197114 chr20:63733679-63733679;A/G missense_variant False ZGRF1@p.D1409N 1 0.162790698 ENSG00000138658 chr4:112584051-112584051;C/T missense_variant False ZGRF1@p.E1265K 1 0.142857143 ENSG00000138658 chr4:112586568-112586568;C/T missense_variant False ZGRF1@p.E1337Q 1 0.105263158 ENSG00000138658 chr4:112585633-112585633;C/G missense_variant False ZGRF1@p.E2002K 1 0.411764706 ENSG00000138658 chr4:112540031-112540031;C/T missense_variant False ZGRF1@p.E511K 1 0.153846154 ENSG00000138658 chr4:112618511-112618511;C/T missense_variant False ZGRF1@p.E970K 1 0.153061224 ENSG00000138658 chr4:112603592-112603592;C/T missense_variant False ZGRF1@p.L832Q 1 0.210526316 ENSG00000138658 chr4:112617547-112617547;A/T missense_variant False ZGRF1@p.S1329L 1 0.263157895 ENSG00000138658 chr4:112585656-112585656;G/A missense_variant False ZGRF1@p.Y655C 1 0.152542373 ENSG00000138658 chr4:112618078-112618078;T/C missense_variant False ZHX1@p.D154H 1 0.126436782 ENSG00000165156 chr8:123255487-123255487;C/G missense_variant False ZHX1@p.P563L 1 0.318918919 ENSG00000165156 chr8:123254259-123254259;G/A missense_variant False ZHX1@p.Q365E 1 0.134751773 ENSG00000165156 chr8:123254854-123254854;G/C missense_variant False ZHX1@p.Q487E 1 0.185897436 ENSG00000165156 chr8:123254488-123254488;G/C missense_variant False ZHX2@p.A514V 1 0.653846154 ENSG00000178764 chr8:122953051-122953051;C/T missense_variant False ZHX2@p.E638Q 1 0.2 ENSG00000178764 chr8:122953422-122953422;G/C missense_variant False ZFYVE9@p.P42T 1 0.238095238 ENSG00000157077 chr1:52237541-52237541;C/A missense_variant False ZFYVE9@p.P279S 1 0.300380228 ENSG00000157077 chr1:52238252-52238252;C/T missense_variant False ZHX2@p.E79Q 1 0.086956522 ENSG00000178764 chr8:122951745-122951745;G/C missense_variant False ZFYVE26@p.I2463M 1 0.269662921 ENSG00000072121 chr14:67751079-67751079;G/C missense_variant False ZFYVE26@p.R780Q 1 0.597222222 ENSG00000072121 chr14:67794233-67794233;C/T missense_variant False ZFYVE26@p.R719K 1 0.459854015 ENSG00000072121 chr14:67798106-67798106;C/T missense_variant False ZFYVE26@p.R2474Q 1 0.321428571 ENSG00000072121 chr14:67748635-67748635;C/T missense_variant False ZFYVE26@p.P2199L 1 0.4 ENSG00000072121 chr14:67756138-67756138;G/A missense_variant False ZFYVE26@p.M1553I 1 0.324324324 ENSG00000072121 chr14:67780256-67780256;C/G missense_variant False ZFYVE26@p.K741N 1 0.700680272 ENSG00000072121 chr14:67798039-67798039;C/G missense_variant False ZFYVE26@p.H1779Y 1 0.666666667 ENSG00000072121 chr14:67772196-67772196;G/A missense_variant False ZFYVE9@p.L387R 1 0.166666667 ENSG00000157077 chr1:52238577-52238577;T/G missense_variant False ZFYVE26@p.G2380E 1 0.105263158 ENSG00000072121 chr14:67753756-67753756;C/T missense_variant False ZFYVE26@p.F2318Y 1 0.154362416 ENSG00000072121 chr14:67755084-67755084;A/T missense_variant False ZFYVE26@p.E834Q 1 0.670886076 ENSG00000072121 chr14:67793661-67793661;C/G missense_variant False ZFYVE26@p.E627K 1 0.367346939 ENSG00000072121 chr14:67798383-67798383;C/T missense_variant False ZFYVE26@p.E400K 1 0.1 ENSG00000072121 chr14:67805290-67805290;C/T missense_variant False ZFYVE26@p.E2493Q 1 0.402597403 ENSG00000072121 chr14:67748579-67748579;C/G missense_variant False ZFYVE26@p.R816T 1 0.391304348 ENSG00000072121 chr14:67793714-67793714;C/G missense_variant False ZFYVE27@p.F287L 1 0.576923077 ENSG00000155256 chr10:97751447-97751447;T/A missense_variant False ZFYVE27@p.Q395H 1 0.071428571 ENSG00000155256 chr10:97759249-97759249;G/C missense_variant False ZFYVE28@p.D739N 1 0.181818182 ENSG00000159733 chr4:2273281-2273281;C/T missense_variant False ZFYVE28@p.E798_A800del 1 0.283236994 ENSG00000159733 chr4:2271704-2271712;GCCAGTTCA/- inframe_deletion False ZFYVE28@p.E91D 1 0.15625 ENSG00000159733 chr4:2341523-2341523;C/G missense_variant False ZFYVE28@p.G99S 1 0.32 ENSG00000159733 chr4:2341501-2341501;C/T missense_variant False ZFYVE28@p.H280Q 1 0.37037037 ENSG00000159733 chr4:2305500-2305500;G/T missense_variant False ZFYVE28@p.V138L 1 0.666666667 ENSG00000159733 chr4:2339562-2339562;C/A missense_variant False ZFYVE9@p.D1284N 1 0.197368421 ENSG00000157077 chr1:52340142-52340142;G/A missense_variant False ZFYVE9@p.D938N 1 0.166666667 ENSG00000157077 chr1:52278557-52278557;G/A missense_variant False ZFYVE9@p.E1415Q 1 0.341935484 ENSG00000157077 chr1:52346186-52346186;G/C missense_variant False ZFYVE9@p.E201D 1 0.418181818 ENSG00000157077 chr1:52238020-52238020;G/T missense_variant False ZFYVE9@p.E58K 1 0.352941176 ENSG00000157077 chr1:52237589-52237589;G/A missense_variant False ZFYVE9@p.E691K 1 0.195652174 ENSG00000157077 chr1:52239488-52239488;G/A missense_variant False ZFYVE9@p.G433S 1 0.148 ENSG00000157077 chr1:52238714-52238714;G/A missense_variant False ZFYVE9@p.L341F 1 0.308641975 ENSG00000157077 chr1:52238438-52238438;C/T missense_variant False ZHX2@p.E671K 1 0.216216216 ENSG00000178764 chr8:122953521-122953521;G/A missense_variant False ZHX2@p.E824K 1 0.586956522 ENSG00000178764 chr8:122953980-122953980;G/A missense_variant False ZKSCAN2@p.R359C 1 0.436893204 ENSG00000155592 chr16:25247121-25247121;G/A missense_variant False ZIK1@p.G191D 1 0.385964912 ENSG00000171649 chr19:57590383-57590383;G/A missense_variant False ZIM2@p.S298L 1 0.446428571 ENSG00000269699 chr19:56775379-56775379;G/A missense_variant False ZIM2@p.P442S 1 0.277777778 ENSG00000269699 chr19:56774948-56774948;G/A missense_variant False ZIK1@p.S79F 1 0.152542373 ENSG00000171649 chr19:57590047-57590047;C/T missense_variant False ZIK1@p.R426W 1 0.41025641 ENSG00000171649 chr19:57591087-57591087;C/T missense_variant False ZIK1@p.R181W 1 0.416666667 ENSG00000171649 chr19:57590352-57590352;C/T missense_variant False ZIK1@p.K156T 1 0.444444444 ENSG00000171649 chr19:57590278-57590278;A/C missense_variant False ZIK1@p.E40K 1 0.243902439 ENSG00000171649 chr19:57588584-57588584;G/A missense_variant False ZIC4@p.R57H 1 0.291666667 ENSG00000174963 chr3:147396370-147396370;C/T missense_variant False ZIK1@p.E240K 1 0.12244898 ENSG00000171649 chr19:57590529-57590529;G/A missense_variant False ZIK1@p.E171Q 1 0.116666667 ENSG00000171649 chr19:57590322-57590322;G/C missense_variant False ZIK1@p.D150N 1 0.109090909 ENSG00000171649 chr19:57590259-57590259;G/A missense_variant False ZIC5@p.E650Q 1 0.247311828 ENSG00000139800 chr13:99965421-99965421;C/G missense_variant False ZIC5@p.D548Y 1 0.06 ENSG00000139800 chr13:99965727-99965727;C/A missense_variant False ZIC4@p.S308W 1 0.177777778 ENSG00000174963 chr3:147391012-147391012;G/C missense_variant False ZIM3@p.C368Y 1 0.097222222 ENSG00000141946 chr19:57135234-57135234;C/T missense_variant False ZIM3@p.D211H 1 0.289719626 ENSG00000141946 chr19:57135706-57135706;C/G missense_variant False ZIM3@p.G425E 1 0.151219512 ENSG00000141946 chr19:57135063-57135063;C/T missense_variant False ZIM3@p.H273D 1 0.504273504 ENSG00000141946 chr19:57135520-57135520;G/C missense_variant False ZIM3@p.H413Y 1 0.188311688 ENSG00000141946 chr19:57135100-57135100;G/A missense_variant False ZIM3@p.K305N 1 0.298507463 ENSG00000141946 chr19:57135422-57135422;T/G missense_variant False ZIM3@p.Q115R 1 0.129310345 ENSG00000141946 chr19:57135993-57135993;T/C missense_variant False ZIM3@p.Q183E 1 0.208588957 ENSG00000141946 chr19:57135790-57135790;G/C missense_variant False ZIM3@p.S265F 1 0.347560976 ENSG00000141946 chr19:57135543-57135543;G/A missense_variant False ZKSCAN1@p.P203L 1 0.172413793 ENSG00000106261 chr7:100029888-100029888;C/T missense_variant False ZKSCAN1@p.S183L 1 0.228915663 ENSG00000106261 chr7:100024275-100024275;C/T missense_variant False ZKSCAN1@p.S362F 1 0.474358974 ENSG00000106261 chr7:100033590-100033590;C/T missense_variant False ZKSCAN2@p.C384Y 1 0.56 ENSG00000155592 chr16:25247045-25247045;C/T missense_variant False ZKSCAN2@p.E514D 1 0.093333333 ENSG00000155592 chr16:25244224-25244224;C/G missense_variant False ZKSCAN2@p.I720V 1 0.446808511 ENSG00000155592 chr16:25240562-25240562;T/C missense_variant False ZKSCAN2@p.K959E 1 0.288135593 ENSG00000155592 chr16:25239845-25239845;T/C missense_variant False ZKSCAN2@p.Q392H 1 0.304812834 ENSG00000155592 chr16:25247020-25247020;C/G missense_variant False ZIC4@p.S291L 1 0.561403509 ENSG00000174963 chr3:147391063-147391063;G/A missense_variant False ZIC4@p.K225E 1 0.342465753 ENSG00000174963 chr3:147395867-147395867;T/C missense_variant False ZHX2@p.G799R 1 0.548387097 ENSG00000178764 chr8:122953905-122953905;G/C missense_variant False ZHX3@p.P185A 1 0.172839506 ENSG00000174306 chr20:41204364-41204364;G/C missense_variant False ZIC1@p.A19T 1 0.24137931 ENSG00000152977 chr3:147410167-147410167;G/A missense_variant False ZIC1@p.A112V 1 0.088888889 ENSG00000152977 chr3:147410447-147410447;C/T missense_variant False ZHX3@p.S112I 1 0.175257732 ENSG00000174306 chr20:41204582-41204582;C/A missense_variant False ZHX3@p.R832Q 1 0.266304348 ENSG00000174306 chr20:41202422-41202422;C/T missense_variant False ZHX3@p.Q385E 1 0.421052632 ENSG00000174306 chr20:41203764-41203764;G/C missense_variant False ZHX3@p.P411A 1 0.126984127 ENSG00000174306 chr20:41203686-41203686;G/C missense_variant False ZHX3@p.H285R 1 0.080882353 ENSG00000174306 chr20:41204063-41204063;T/C missense_variant False ZIC4@p.K188Q 1 0.079120879 ENSG00000174963 chr3:147395978-147395978;T/G missense_variant False ZHX3@p.E690K 1 0.048387097 ENSG00000174306 chr20:41202849-41202849;C/T missense_variant False ZHX3@p.E419K 1 0.428571429 ENSG00000174306 chr20:41203662-41203662;C/T missense_variant False ZHX3@p.E369K 1 0.168 ENSG00000174306 chr20:41203812-41203812;C/T missense_variant False ZHX2@p.S389F 1 0.273381295 ENSG00000178764 chr8:122952676-122952676;C/T missense_variant False ZHX2@p.R649T 1 0.169014085 ENSG00000178764 chr8:122953456-122953456;G/C missense_variant False ZHX2@p.N210K 1 0.246445498 ENSG00000178764 chr8:122952140-122952140;C/A missense_variant False ZIC1@p.E279K 1 0.212389381 ENSG00000152977 chr3:147410947-147410947;G/A missense_variant False ZIC1@p.E317D 1 0.477272727 ENSG00000152977 chr3:147411063-147411063;G/C missense_variant False ZIC1@p.G130D 1 0.15 ENSG00000152977 chr3:147410501-147410501;G/A missense_variant False ZIC1@p.G209C 1 0.17 ENSG00000152977 chr3:147410737-147410737;G/T missense_variant False ZIC1@p.H255N 1 0.383333333 ENSG00000152977 chr3:147410875-147410875;C/A missense_variant False ZIC1@p.H354Y 1 0.263157895 ENSG00000152977 chr3:147412595-147412595;C/T missense_variant False ZIC1@p.P51H 1 0.325581395 ENSG00000152977 chr3:147410264-147410264;C/A missense_variant False ZIC1@p.R215H 1 0.1 ENSG00000152977 chr3:147410756-147410756;G/A missense_variant False ZIC1@p.R378C 1 0.131845842 ENSG00000152977 chr3:147412667-147412667;C/T missense_variant False ZIC1@p.S411F 1 0.133333333 ENSG00000152977 chr3:147413439-147413439;C/T missense_variant False ZIC1@p.T65M 1 0.125 ENSG00000152977 chr3:147410306-147410306;C/T missense_variant False ZIC2@p.A27T 1 0.454545455 ENSG00000043355 chr13:99982143-99982143;G/A missense_variant False ZIC2@p.R201P 1 0.189189189 ENSG00000043355 chr13:99982666-99982666;G/C missense_variant False ZIC3@p.H322Q 1 0.233962264 ENSG00000156925 chrX:137567657-137567657;C/G missense_variant False ZIC3@p.R404C 1 0.397849462 ENSG00000156925 chrX:137569051-137569051;C/T missense_variant False ZIC3@p.W255C 1 0.603773585 ENSG00000156925 chrX:137567456-137567456;G/C missense_variant False ZIC4@p.D70Y 1 0.5 ENSG00000174963 chr3:147396332-147396332;C/A missense_variant False ZNF106@p.G1173R 1 0.170731707 ENSG00000103994 chr15:42442250-42442250;C/T missense_variant False ZNF106@p.R1018Q 1 0.212389381 ENSG00000103994 chr15:42448085-42448085;C/T missense_variant False ZFYVE26@p.D588N 1 0.396226415 ENSG00000072121 chr14:67798500-67798500;C/T missense_variant False ZNF202@p.E269K 1 0.076923077 ENSG00000166261 chr11:123728160-123728160;C/T missense_variant False ZNF205@p.K362E 1 0.186440678 ENSG00000122386 chr16:3119744-3119744;A/G missense_variant False ZNF202@p.V90M 1 0.375 ENSG00000166261 chr11:123730621-123730621;C/T missense_variant False ZNF202@p.R130G 1 0.042168675 ENSG00000166261 chr11:123730501-123730501;T/C missense_variant False ZNF202@p.K619E 1 0.14516129 ENSG00000166261 chr11:123726089-123726089;T/C missense_variant False ZNF202@p.E359K 1 0.371559633 ENSG00000166261 chr11:123726869-123726869;C/T missense_variant False ZNF202@p.E294K 1 0.470588235 ENSG00000166261 chr11:123727548-123727548;C/T missense_variant False ZNF200@p.E350K 1 0.088235294 ENSG00000010539 chr16:3224032-3224032;C/T missense_variant False ZNF205@p.R185L 1 0.324786325 ENSG00000122386 chr16:3118974-3118974;G/T missense_variant False ZNF200@p.E151K 1 0.167938931 ENSG00000010539 chr16:3232436-3232436;C/T missense_variant False ZNF200@p.E144K 1 0.16025641 ENSG00000010539 chr16:3232457-3232457;C/T missense_variant False ZNF19@p.V14M 1 0.452380952 ENSG00000157429 chr16:71478999-71478999;C/T missense_variant False ZNF19@p.S426Y 1 0.183673469 ENSG00000157429 chr16:71475270-71475270;G/T missense_variant False ZNF19@p.R153I 1 0.666666667 ENSG00000157429 chr16:71476089-71476089;C/A missense_variant False ZNF197@p.R887T 1 0.359756098 ENSG00000186448 chr3:44643790-44643790;G/C missense_variant False ZNF205@p.N518I 1 0.606060606 ENSG00000122386 chr16:3120213-3120213;A/T missense_variant False ZNF205@p.R499C 1 0.119402985 ENSG00000122386 chr16:3120155-3120155;C/T missense_variant False ZNF106@p.R1657W 1 0.652173913 ENSG00000103994 chr15:42424986-42424986;G/A missense_variant False ZNF208@p.E1074K 1 0.048543689 ENSG00000160321 chr19:21971814-21971814;C/T missense_variant False ZNF208@p.G839D 1 0.189473684 ENSG00000160321 chr19:21972518-21972518;C/T missense_variant False ZNF208@p.G829E 1 0.189873418 ENSG00000160321 chr19:21972548-21972548;C/T missense_variant False ZNF208@p.G717A 1 0.272727273 ENSG00000160321 chr19:21972884-21972884;C/G missense_variant False ZNF208@p.F646I 1 0.218181818 ENSG00000160321 chr19:21973098-21973098;A/T missense_variant False ZNF208@p.E578D 1 0.1875 ENSG00000160321 chr19:21973300-21973300;C/G missense_variant False ZNF208@p.E1088V 1 0.345794393 ENSG00000160321 chr19:21971771-21971771;T/A missense_variant False ZNF207@p.Y382C 1 0.446153846 ENSG00000010244 chr17:32369323-32369323;A/G missense_variant False ZNF205@p.R521Q 1 0.272727273 ENSG00000122386 chr16:3120222-3120222;G/A missense_variant False ZNF207@p.S121C 1 0.211267606 ENSG00000010244 chr17:32360652-32360652;C/G missense_variant False ZNF207@p.Q28R 1 0.451612903 ENSG00000010244 chr17:32351827-32351827;A/G missense_variant False ZNF207@p.L97F 1 0.220930233 ENSG00000010244 chr17:32358623-32358623;C/T missense_variant False ZNF207@p.D21N 1 0.145833333 ENSG00000010244 chr17:32351805-32351805;G/A missense_variant False ZNF207@p.D114N 1 0.238095238 ENSG00000010244 chr17:32360630-32360630;G/A missense_variant False ZNF207@p.A64G 1 0.223140496 ENSG00000010244 chr17:32358525-32358525;C/G missense_variant False ZNF197@p.R866I 1 0.148148148 ENSG00000186448 chr3:44643727-44643727;G/T missense_variant False ZNF197@p.R810T 1 0.085106383 ENSG00000186448 chr3:44643559-44643559;G/C missense_variant False ZNF197@p.P929T 1 0.18 ENSG00000186448 chr3:44643915-44643915;C/A missense_variant False ZNF181@p.F498L 1 0.25 ENSG00000197841 chr19:34741875-34741875;C/A missense_variant False ZNF184@p.H384Y 1 0.333333333 ENSG00000096654 chr6:27452409-27452409;G/A missense_variant False ZNF184@p.H272D 1 0.164948454 ENSG00000096654 chr6:27452745-27452745;G/C missense_variant False ZNF184@p.E422Q 1 0.189189189 ENSG00000096654 chr6:27452295-27452295;C/G missense_variant False ZNF182@p.E58K 1 0.326086957 ENSG00000147118 chrX:47983312-47983312;C/T missense_variant False ZNF182@p.E197D 1 0.448275862 ENSG00000147118 chrX:47977496-47977496;C/G missense_variant False ZNF181@p.L452F 1 0.340659341 ENSG00000197841 chr19:34741737-34741737;G/C missense_variant False ZNF181@p.E172K 1 0.516129032 ENSG00000197841 chr19:34740895-34740895;G/A missense_variant False ZNF197@p.M717I 1 0.423076923 ENSG00000186448 chr3:44643281-44643281;G/T missense_variant False ZNF180@p.T641Hfs*4 1 0.115384615 ENSG00000167384 chr19:44476560-44476560;T/- frameshift_variant False ZNF180@p.T621S 1 0.313868613 ENSG00000167384 chr19:44476619-44476619;G/C missense_variant False ZNF180@p.S534F 1 0.302631579 ENSG00000167384 chr19:44476880-44476880;G/A missense_variant False ZNF180@p.S445L 1 0.452830189 ENSG00000167384 chr19:44477147-44477147;G/A missense_variant False ZNF180@p.Q680E 1 0.2 ENSG00000167384 chr19:44476443-44476443;G/C missense_variant False ZNF180@p.H595R 1 0.119047619 ENSG00000167384 chr19:44476697-44476697;T/C missense_variant False ZNF184@p.K223T 1 0.122807018 ENSG00000096654 chr6:27452891-27452891;T/G missense_variant False ZNF184@p.Q297E 1 0.112676056 ENSG00000096654 chr6:27452670-27452670;G/C missense_variant False ZNF184@p.R746T 1 0.577981651 ENSG00000096654 chr6:27451322-27451322;C/G missense_variant False ZNF184@p.S117F 1 0.26744186 ENSG00000096654 chr6:27453209-27453209;G/A missense_variant False ZNF185@p.D667Y 1 0.676190476 ENSG00000147394 chrX:152970470-152970470;G/T missense_variant False ZNF185@p.R529L 1 0.375 ENSG00000147394 chrX:152959878-152959878;G/T missense_variant False ZNF189@p.F114L 1 0.58974359 ENSG00000136870 chr9:101408110-101408110;C/G missense_variant False ZNF189@p.K261R 1 0.06993007 ENSG00000136870 chr9:101408550-101408550;A/G missense_variant False ZNF189@p.R131T 1 0.6 ENSG00000136870 chr9:101408160-101408160;G/C missense_variant False ZNF189@p.R326Q 1 0.252173913 ENSG00000136870 chr9:101408745-101408745;G/A missense_variant False ZNF18@p.D259H 1 0.181818182 ENSG00000154957 chr17:11983384-11983384;C/G missense_variant False ZNF18@p.P218L 1 0.214285714 ENSG00000154957 chr17:11990475-11990475;G/A missense_variant False ZNF195@p.H544Y 1 0.238095238 ENSG00000005801 chr11:3359378-3359378;G/A missense_variant False ZNF195@p.S365F 1 0.092592593 ENSG00000005801 chr11:3359914-3359914;G/A missense_variant False ZNF195@p.S591L 1 0.195121951 ENSG00000005801 chr11:3359236-3359236;G/A missense_variant False ZNF197@p.E230K 1 0.033254157 ENSG00000186448 chr3:44632518-44632518;G/A missense_variant False ZNF197@p.K781N 1 0.126436782 ENSG00000186448 chr3:44643473-44643473;G/C missense_variant False ZNF208@p.I277R 1 0.318181818 ENSG00000160321 chr19:21974204-21974204;A/C missense_variant False ZNF208@p.K127N 1 0.211538462 ENSG00000160321 chr19:21974653-21974653;T/G missense_variant False ZNF208@p.K852E 1 0.262711864 ENSG00000160321 chr19:21972480-21972480;T/C missense_variant False ZNF222@p.S326L 1 0.369791667 ENSG00000159885 chr19:44032651-44032651;C/T missense_variant False ZNF223@p.W66S 1 0.103030303 ENSG00000178386 chr19:44060803-44060803;G/C missense_variant False ZNF223@p.S356F 1 0.046979866 ENSG00000178386 chr19:44066895-44066895;C/T missense_variant False ZNF223@p.N77Ifs*10 1 0.259259259 ENSG00000178386 chr19:44060832-44060832;G/- frameshift_variant False ZNF223@p.I415Rfs*39 1 0.210526316 ENSG00000178386 chr19:44067071-44067119;ATTTTGAATCATAAGAGACTCCATTGCCGAAAAAAACCATTCAAATGTG/- frameshift_variant False ZNF223@p.H282D 1 0.375796178 ENSG00000178386 chr19:44066672-44066672;C/G missense_variant False ZNF223@p.F428L 1 0.465753425 ENSG00000178386 chr19:44067112-44067112;C/G missense_variant False ZNF222@p.D79G 1 0.222222222 ENSG00000159885 chr19:44031910-44031910;A/G missense_variant False ZNF219@p.E458K 1 0.263157895 ENSG00000165804 chr14:21091925-21091925;C/T missense_variant False ZNF222@p.D176N 1 0.088888889 ENSG00000159885 chr19:44032200-44032200;G/A missense_variant False ZNF221@p.Q441E 1 0.094017094 ENSG00000159905 chr19:43966823-43966823;C/G missense_variant False ZNF221@p.Q145K 1 0.097345133 ENSG00000159905 chr19:43965935-43965935;C/A missense_variant False ZNF221@p.H188Y 1 0.234375 ENSG00000159905 chr19:43966064-43966064;C/T missense_variant False ZNF221@p.D48N 1 0.047337278 ENSG00000159905 chr19:43965010-43965010;G/A missense_variant False ZNF221@p.D341H 1 0.533333333 ENSG00000159905 chr19:43966523-43966523;G/C missense_variant False ZNF224@p.D319N 1 0.085820896 ENSG00000267680 chr19:44107115-44107115;G/A missense_variant False ZNF224@p.E655K 1 0.391304348 ENSG00000267680 chr19:44108123-44108123;G/A missense_variant False ZNF224@p.H586Y 1 0.367816092 ENSG00000267680 chr19:44107916-44107916;C/T missense_variant False ZNF224@p.H698Y 1 0.6 ENSG00000267680 chr19:44108252-44108252;C/T missense_variant False ZNF224@p.K547N 1 0.160493827 ENSG00000267680 chr19:44107801-44107801;G/C missense_variant False ZNF224@p.R326C 1 0.125 ENSG00000267680 chr19:44107136-44107136;C/T missense_variant False ZNF224@p.S171L 1 0.196078431 ENSG00000267680 chr19:44106672-44106672;C/T missense_variant False ZNF224@p.Y260N 1 0.32034632 ENSG00000267680 chr19:44106938-44106938;T/A missense_variant False ZNF225@p.E488Q 1 0.245614035 ENSG00000256294 chr19:44132076-44132076;G/C missense_variant False ZNF225@p.F316L 1 0.267045455 ENSG00000256294 chr19:44131562-44131562;C/G missense_variant False ZNF225@p.G591D 1 0.387755102 ENSG00000256294 chr19:44132386-44132386;G/A missense_variant False ZNF225@p.K146Tfs*3 1 0.132743363 ENSG00000256294 chr19:44131048-44131049;AG/- frameshift_variant False ZNF225@p.K183N 1 0.211864407 ENSG00000256294 chr19:44131163-44131163;G/C missense_variant False ZNF225@p.Q615H 1 0.238095238 ENSG00000256294 chr19:44132459-44132459;G/C missense_variant False ZNF225@p.S324N 1 0.111111111 ENSG00000256294 chr19:44131585-44131585;G/A missense_variant False ZNF225@p.S388L 1 0.179487179 ENSG00000256294 chr19:44131777-44131777;C/T missense_variant False ZNF226@p.E21K 1 0.063492063 ENSG00000167380 chr19:44172133-44172133;G/A missense_variant False ZNF219@p.S506C 1 0.301587302 ENSG00000165804 chr14:21091458-21091458;G/C missense_variant False ZNF217@p.S513C 1 0.261780105 ENSG00000171940 chr20:53577226-53577226;G/C missense_variant False ZNF208@p.L1016H 1 0.25 ENSG00000160321 chr19:21971987-21971987;A/T missense_variant False ZNF211@p.R253K 1 0.054347826 ENSG00000121417 chr19:57641244-57641244;G/A missense_variant False ZNF214@p.E417Q 1 0.4 ENSG00000149050 chr11:7000434-7000434;C/G missense_variant False ZNF213@p.Q263H 1 0.36 ENSG00000085644 chr16:3140756-3140756;G/C missense_variant False ZNF213@p.P155S 1 0.138461538 ENSG00000085644 chr16:3138481-3138481;C/T missense_variant False ZNF213@p.G148V 1 0.267857143 ENSG00000085644 chr16:3138461-3138461;G/T missense_variant False ZNF212@p.S319F 1 0.528301887 ENSG00000170260 chr7:149253883-149253883;C/T missense_variant False ZNF211@p.W47R 1 0.460992908 ENSG00000121417 chr19:57634677-57634677;T/C missense_variant False ZNF211@p.G403E 1 0.23255814 ENSG00000121417 chr19:57641694-57641694;G/A missense_variant False ZNF217@p.S1007F 1 0.280701754 ENSG00000171940 chr20:53575744-53575744;G/A missense_variant False ZNF211@p.F322S 1 0.385185185 ENSG00000121417 chr19:57641451-57641451;T/C missense_variant False ZNF20@p.K509R 1 0.429752066 ENSG00000132010 chr19:12132660-12132660;T/C missense_variant False ZNF20@p.D127H 1 0.202830189 ENSG00000132010 chr19:12133807-12133807;C/G missense_variant False ZNF208@p.Y1029C 1 0.347222222 ENSG00000160321 chr19:21971948-21971948;T/C missense_variant False ZNF208@p.V179A 1 0.103448276 ENSG00000160321 chr19:21974498-21974498;A/G missense_variant False ZNF208@p.L440R 1 0.045112782 ENSG00000160321 chr19:21973715-21973715;A/C missense_variant False ZNF214@p.F563L 1 0.220588235 ENSG00000149050 chr11:6999994-6999994;G/C missense_variant False ZNF214@p.P525L 1 0.098765432 ENSG00000149050 chr11:7000109-7000109;G/A missense_variant False ZNF214@p.Q88P 1 0.425352113 ENSG00000149050 chr11:7001420-7001420;T/G missense_variant False ZNF214@p.R152T 1 0.141304348 ENSG00000149050 chr11:7001228-7001228;C/G missense_variant False ZNF215@p.D335N 1 0.114285714 ENSG00000149054 chr11:6955980-6955980;G/A missense_variant False ZNF215@p.L57F 1 0.56 ENSG00000149054 chr11:6932443-6932443;G/C missense_variant False ZNF215@p.M482I 1 0.173913043 ENSG00000149054 chr11:6956423-6956423;G/T missense_variant False ZNF215@p.Q426_L428del 1 0.378378378 ENSG00000149054 chr11:6956252-6956260;TCAAAAACT/- inframe_deletion False ZNF215@p.S140C 1 0.268292683 ENSG00000149054 chr11:6941589-6941589;C/G missense_variant False ZNF217@p.E201Q 1 0.112840467 ENSG00000171940 chr20:53582226-53582226;C/G missense_variant False ZNF217@p.E451K 1 0.441860465 ENSG00000171940 chr20:53581476-53581476;C/T missense_variant False ZNF217@p.G994W 1 0.139534884 ENSG00000171940 chr20:53575784-53575784;C/A missense_variant False ZNF217@p.L231V 1 0.261538462 ENSG00000171940 chr20:53582136-53582136;G/C missense_variant False ZNF217@p.L28V 1 0.43 ENSG00000171940 chr20:53582745-53582745;G/C missense_variant False ZNF217@p.L428V 1 0.179104478 ENSG00000171940 chr20:53581545-53581545;G/C missense_variant False ZNF217@p.L760F 1 0.12962963 ENSG00000171940 chr20:53576484-53576484;C/A missense_variant False ZNF217@p.P868A 1 0.106796117 ENSG00000171940 chr20:53576162-53576162;G/C missense_variant False ZNF180@p.H511Y 1 0.165137615 ENSG00000167384 chr19:44476950-44476950;G/A missense_variant False ZNF180@p.F81L 1 0.62745098 ENSG00000167384 chr19:44479374-44479374;G/T missense_variant False ZNF17@p.S139G 1 0.119565217 ENSG00000186272 chr19:57419907-57419907;A/G missense_variant False ZNF131@p.K146N 1 0.274509804 ENSG00000172262 chr5:43161315-43161315;G/C missense_variant False ZNF133@p.D121Y 1 0.296416938 ENSG00000125846 chr20:18315212-18315212;G/T missense_variant False ZNF132@p.R610Q 1 0.436363636 ENSG00000131849 chr19:58433615-58433615;C/T missense_variant False ZNF132@p.Q59H 1 0.171052632 ENSG00000131849 chr19:58437102-58437102;C/G missense_variant False ZNF132@p.P108L 1 0.114503817 ENSG00000131849 chr19:58435121-58435121;G/A missense_variant False ZNF132@p.F468L 1 0.247191011 ENSG00000131849 chr19:58434040-58434040;G/C missense_variant False ZNF131@p.L525V 1 0.196078431 ENSG00000172262 chr5:43174834-43174834;C/G missense_variant False ZNF131@p.E614G 1 0.5 ENSG00000172262 chr5:43175102-43175102;A/G missense_variant False ZNF12@p.E466Q 1 0.056603774 ENSG00000164631 chr7:6691546-6691546;C/G missense_variant False ZNF131@p.E29Q 1 0.510638298 ENSG00000172262 chr5:43122138-43122138;G/C missense_variant False ZNF131@p.D591N 1 0.150943396 ENSG00000172262 chr5:43175032-43175032;G/A missense_variant False ZNF12@p.S559F 1 0.177777778 ENSG00000164631 chr7:6691266-6691266;G/A missense_variant False ZNF12@p.R644W 1 0.331428571 ENSG00000164631 chr7:6691012-6691012;G/A missense_variant False ZNF12@p.R485T 1 0.26 ENSG00000164631 chr7:6691488-6691488;C/G missense_variant False ZNF12@p.G461A 1 0.28125 ENSG00000164631 chr7:6691560-6691560;C/G missense_variant False ZNF133@p.Q192E 1 0.26744186 ENSG00000125846 chr20:18315425-18315425;C/G missense_variant False ZNF133@p.R525Q 1 0.322033898 ENSG00000125846 chr20:18316425-18316425;G/A missense_variant False ZNF134@p.E164Q 1 0.380952381 ENSG00000213762 chr19:57620609-57620609;G/C missense_variant False ZNF134@p.I347S 1 0.161616162 ENSG00000213762 chr19:57621159-57621159;T/G missense_variant False ZNF135@p.E211D 1 0.111111111 ENSG00000176293 chr19:58067117-58067117;G/C missense_variant False ZNF135@p.E26G 1 0.192 ENSG00000176293 chr19:58061623-58061623;A/G missense_variant False ZNF136@p.E445K 1 0.3125 ENSG00000196646 chr19:12187711-12187711;G/A missense_variant False ZNF136@p.G444V 1 0.3125 ENSG00000196646 chr19:12187709-12187709;G/T missense_variant False ZNF136@p.K534R 1 0.137254902 ENSG00000196646 chr19:12187979-12187979;A/G missense_variant False ZNF136@p.R328T 1 0.186440678 ENSG00000196646 chr19:12187361-12187361;G/C missense_variant False ZNF136@p.T141A 1 0.403225806 ENSG00000196646 chr19:12186799-12186799;A/G missense_variant False ZNF138@p.D173N 1 0.282051282 ENSG00000197008 chr7:64831759-64831759;G/A missense_variant False ZNF140@p.H351R 1 0.25 ENSG00000196387 chr12:133106329-133106329;A/G missense_variant False ZNF140@p.S202L 1 0.194312796 ENSG00000196387 chr12:133105882-133105882;C/T missense_variant False ZNF141@p.H465N 1 0.494949495 ENSG00000131127 chr4:373830-373830;C/A missense_variant False ZNF141@p.H80D 1 0.091954023 ENSG00000131127 chr4:372675-372675;C/G missense_variant False ZNF141@p.K330N 1 0.279569892 ENSG00000131127 chr4:373427-373427;G/C missense_variant False ZNF12@p.G245A 1 0.255813953 ENSG00000164631 chr7:6692208-6692208;C/G missense_variant False ZNF124@p.S33F 1 0.293103448 ENSG00000196418 chr1:247159746-247159746;G/A missense_variant False ZNF142@p.D1614N 1 0.37037037 ENSG00000115568 chr2:218642276-218642276;C/T missense_variant False ZNF107@p.K487N 1 0.198113208 ENSG00000196247 chr7:64707765-64707765;G/C missense_variant False ZNF10@p.G345A 1 0.255813953 ENSG00000256223 chr12:133156280-133156280;G/C missense_variant False ZNF10@p.E290K 1 0.085470085 ENSG00000256223 chr12:133156114-133156114;G/A missense_variant False ZNF107@p.S229L 1 0.253012048 ENSG00000196247 chr7:64706990-64706990;C/T missense_variant False ZNF107@p.R128T 1 0.2 ENSG00000196247 chr7:64706687-64706687;G/C missense_variant False ZNF107@p.N562I 1 0.379310345 ENSG00000196247 chr7:64707989-64707989;A/T missense_variant False ZNF107@p.M8I 1 0.403846154 ENSG00000196247 chr7:64706328-64706328;G/T missense_variant False ZNF107@p.K235M 1 0.270833333 ENSG00000196247 chr7:64707008-64707008;A/T missense_variant False ZNF124@p.Q321H 1 0.384615385 ENSG00000196418 chr1:247156659-247156659;C/G missense_variant False ZNF107@p.H546Y 1 0.224489796 ENSG00000196247 chr7:64707940-64707940;C/T missense_variant False ZNF107@p.E471Q 1 0.345454545 ENSG00000196247 chr7:64707715-64707715;G/C missense_variant False ZNF107@p.E213Q 1 0.387755102 ENSG00000196247 chr7:64706941-64706941;G/C missense_variant False ZNF107@p.E19Q 1 0.297520661 ENSG00000196247 chr7:64706359-64706359;G/C missense_variant False ZNF106@p.T1478N 1 0.508333333 ENSG00000103994 chr15:42439075-42439075;G/T missense_variant False ZNF106@p.S10L 1 0.428571429 ENSG00000103994 chr15:42457177-42457177;G/A missense_variant False ZNF10@p.H287Y 1 0.16 ENSG00000256223 chr12:133156105-133156105;C/T missense_variant False ZNF10@p.R261T 1 0.203125 ENSG00000256223 chr12:133156028-133156028;G/C missense_variant False ZNF10@p.S446F 1 0.271028037 ENSG00000256223 chr12:133156583-133156583;C/T missense_variant False ZNF112@p.C667S 1 0.081395349 ENSG00000062370 chr19:44328175-44328175;C/G missense_variant False ZNF112@p.E697Q 1 0.169811321 ENSG00000062370 chr19:44328086-44328086;C/G missense_variant False ZNF112@p.H879Y 1 0.261363636 ENSG00000062370 chr19:44327540-44327540;G/A missense_variant False ZNF112@p.L568F 1 0.242268041 ENSG00000062370 chr19:44328473-44328473;G/A missense_variant False ZNF112@p.Q625E 1 0.129353234 ENSG00000062370 chr19:44328302-44328302;G/C missense_variant False ZNF112@p.R797T 1 0.380368098 ENSG00000062370 chr19:44327785-44327785;C/G missense_variant False ZNF112@p.S716F 1 0.155172414 ENSG00000062370 chr19:44328028-44328028;G/A missense_variant False ZNF114@p.D154N 1 0.287128713 ENSG00000178150 chr19:48286084-48286084;G/A missense_variant False ZNF114@p.D166N 1 0.066666667 ENSG00000178150 chr19:48286120-48286120;G/A missense_variant False ZNF114@p.E232K 1 0.1 ENSG00000178150 chr19:48286318-48286318;G/A missense_variant False ZNF114@p.M128I 1 0.390070922 ENSG00000178150 chr19:48286008-48286008;G/A missense_variant False ZNF117@p.E309Nfs*45 1 0.157142857 ENSG00000152926 chr7:64978647-64978647;T/- frameshift_variant False ZNF121@p.K347N 1 0.314814815 ENSG00000197961 chr19:9566072-9566072;T/A missense_variant False ZNF124@p.D17N 1 0.233333333 ENSG00000196418 chr1:247159795-247159795;C/T missense_variant False ZNF141@p.Q440E 1 0.115702479 ENSG00000131127 chr4:373755-373755;C/G missense_variant False ZNF142@p.E715Q 1 0.2 ENSG00000115568 chr2:218644973-218644973;C/G missense_variant False ZNF17@p.N538I 1 0.424242424 ENSG00000186272 chr19:57421105-57421105;A/T missense_variant False ZNF160@p.E127K 1 0.25 ENSG00000170949 chr19:53070155-53070155;C/T missense_variant False ZNF160@p.H236D 1 0.307359307 ENSG00000170949 chr19:53069828-53069828;G/C missense_variant False ZNF160@p.G477E 1 0.316176471 ENSG00000170949 chr19:53069104-53069104;C/T missense_variant False ZNF160@p.E541Q 1 0.065420561 ENSG00000170949 chr19:53068913-53068913;C/G missense_variant False ZNF160@p.E394Q 1 0.07106599 ENSG00000170949 chr19:53069354-53069354;C/G missense_variant False ZNF160@p.E317Q 1 0.219512195 ENSG00000170949 chr19:53069585-53069585;C/G missense_variant False ZNF160@p.E142Q 1 0.446735395 ENSG00000170949 chr19:53070110-53070110;C/G missense_variant False ZNF160@p.A601V 1 0.516853933 ENSG00000170949 chr19:53068732-53068732;G/A missense_variant False ZNF155@p.F288L 1 0.080357143 ENSG00000204920 chr19:43996721-43996721;C/G missense_variant False ZNF160@p.A529E 1 0.222222222 ENSG00000170949 chr19:53068948-53068948;G/T missense_variant False ZNF157@p.M75I 1 0.4 ENSG00000147117 chrX:47410705-47410705;G/A missense_variant False ZNF157@p.K426N 1 0.366666667 ENSG00000147117 chrX:47413351-47413351;G/C missense_variant False ZNF157@p.E30K 1 0.418181818 ENSG00000147117 chrX:47410291-47410291;G/A missense_variant False ZNF155@p.P90A 1 0.081081081 ENSG00000204920 chr19:43996125-43996125;C/G missense_variant False ZNF155@p.H95Y 1 0.34375 ENSG00000204920 chr19:43996140-43996140;C/T missense_variant False ZNF160@p.H331Y 1 0.55033557 ENSG00000170949 chr19:53069543-53069543;G/A missense_variant False ZNF160@p.L748M 1 0.137931034 ENSG00000170949 chr19:53068292-53068292;G/T missense_variant False ZNF160@p.R445T 1 0.204819277 ENSG00000170949 chr19:53069200-53069200;C/G missense_variant False ZNF160@p.S606L 1 0.357894737 ENSG00000170949 chr19:53068717-53068717;G/A missense_variant False ZNF165@p.E376K 1 0.104166667 ENSG00000197279 chr6:28089138-28089138;G/A missense_variant False ZNF165@p.G378E 1 0.428571429 ENSG00000197279 chr6:28089145-28089145;G/A missense_variant False ZNF165@p.S385L 1 0.224719101 ENSG00000197279 chr6:28089166-28089166;C/T missense_variant False ZNF16@p.D240H 1 0.25 ENSG00000170631 chr8:144932069-144932069;C/G missense_variant False ZNF174@p.E20Q 1 0.153846154 ENSG00000103343 chr16:3402062-3402062;G/C missense_variant False ZNF174@p.E56K 1 0.204545455 ENSG00000103343 chr16:3402170-3402170;G/A missense_variant False ZNF174@p.S11C 1 0.824742268 ENSG00000103343 chr16:3402036-3402036;C/G missense_variant False ZNF175@p.E528G 1 0.235294118 ENSG00000105497 chr19:51587914-51587914;A/G missense_variant False ZNF175@p.Q214E 1 0.297297297 ENSG00000105497 chr19:51586971-51586971;C/G missense_variant False ZNF175@p.S237C 1 0.102040816 ENSG00000105497 chr19:51587041-51587041;C/G missense_variant False ZNF17@p.E418K 1 0.203125 ENSG00000186272 chr19:57420744-57420744;G/A missense_variant False ZNF17@p.E87K 1 0.414634146 ENSG00000186272 chr19:57419751-57419751;G/A missense_variant False ZNF17@p.H268D 1 0.203389831 ENSG00000186272 chr19:57420294-57420294;C/G missense_variant False ZNF155@p.H474Y 1 0.378205128 ENSG00000204920 chr19:43997277-43997277;C/T missense_variant False ZNF155@p.C186Y 1 0.120879121 ENSG00000204920 chr19:43996414-43996414;G/A missense_variant False ZNF142@p.F1458L 1 0.093023256 ENSG00000115568 chr2:218642742-218642742;G/T missense_variant False ZNF143@p.E332K 1 0.098360656 ENSG00000166478 chr11:9501117-9501117;G/A missense_variant False ZNF148@p.D786N 1 0.306451613 ENSG00000163848 chr3:125232370-125232370;C/T missense_variant False ZNF146@p.S80L 1 0.172043011 ENSG00000167635 chr19:36236679-36236679;C/T missense_variant False ZNF146@p.L227V 1 0.125 ENSG00000167635 chr19:36237119-36237119;C/G missense_variant False ZNF146@p.E181Q 1 0.491666667 ENSG00000167635 chr19:36236981-36236981;G/C missense_variant False ZNF143@p.S603F 1 0.217391304 ENSG00000166478 chr11:9525361-9525361;C/T missense_variant False ZNF143@p.R595T 1 0.208791209 ENSG00000166478 chr11:9525337-9525337;G/C missense_variant False ZNF143@p.E138G 1 0.19205298 ENSG00000166478 chr11:9478429-9478429;A/G missense_variant False ZNF14@p.Y208D 1 0.44 ENSG00000105708 chr19:19712659-19712659;A/C missense_variant False ZNF143@p.E112Q 1 0.12345679 ENSG00000166478 chr11:9474594-9474594;G/C missense_variant False ZNF142@p.T581A 1 0.647058824 ENSG00000115568 chr2:218648767-218648767;T/C missense_variant False ZNF142@p.R1650C 1 0.291666667 ENSG00000115568 chr2:218642168-218642168;G/A missense_variant False ZNF142@p.R1447W 1 0.803030303 ENSG00000115568 chr2:218642777-218642777;G/A missense_variant False ZNF142@p.R1056S 1 0.34375 ENSG00000115568 chr2:218643948-218643948;C/A missense_variant False ZNF142@p.P1881A 1 0.344827586 ENSG00000115568 chr2:218638362-218638362;G/C missense_variant False ZNF148@p.E419D 1 0.194029851 ENSG00000163848 chr3:125233469-125233469;C/A missense_variant False ZNF148@p.E557D 1 0.148148148 ENSG00000163848 chr3:125233055-125233055;C/G missense_variant False ZNF148@p.K394R 1 0.365591398 ENSG00000163848 chr3:125233545-125233545;T/C missense_variant False ZNF148@p.L436R 1 0.504761905 ENSG00000163848 chr3:125233419-125233419;A/C missense_variant False ZNF148@p.Q48E 1 0.195266272 ENSG00000163848 chr3:125313499-125313499;G/C missense_variant False ZNF148@p.R235K 1 0.318471338 ENSG00000163848 chr3:125234293-125234293;C/T missense_variant False ZNF148@p.S22C 1 0.221052632 ENSG00000163848 chr3:125313576-125313576;G/C missense_variant False ZNF148@p.S438L 1 0.177966102 ENSG00000163848 chr3:125233413-125233413;G/A missense_variant False ZNF148@p.S784L 1 0.211764706 ENSG00000163848 chr3:125232375-125232375;G/A missense_variant False ZNF14@p.E104K 1 0.32038835 ENSG00000105708 chr19:19712971-19712971;C/T missense_variant False ZNF14@p.E198Q 1 0.294117647 ENSG00000105708 chr19:19712689-19712689;C/G missense_variant False ZNF14@p.E354Q 1 0.140350877 ENSG00000105708 chr19:19712221-19712221;C/G missense_variant False ZNF14@p.E7K 1 0.459016393 ENSG00000105708 chr19:19714472-19714472;C/T missense_variant False ZNF14@p.R186T 1 0.166666667 ENSG00000105708 chr19:19712724-19712724;C/G missense_variant False ZNF14@p.R355T 1 0.105882353 ENSG00000105708 chr19:19712217-19712217;C/G missense_variant False ZNF14@p.R70T 1 0.36036036 ENSG00000105708 chr19:19713072-19713072;C/G missense_variant False ZNF14@p.S543C 1 0.647540984 ENSG00000105708 chr19:19711653-19711653;G/C missense_variant False ZFYVE26@p.E1929K 1 0.467741935 ENSG00000072121 chr14:67767709-67767709;C/T missense_variant False ZFYVE26@p.D2228Y 1 0.031007752 ENSG00000072121 chr14:67756052-67756052;C/A missense_variant False ZBTB45@p.E230K 1 0.150617284 ENSG00000119574 chr19:58516986-58516986;C/T missense_variant False ZCCHC4@p.R70K 1 0.265734266 ENSG00000168228 chr4:25314127-25314127;G/A missense_variant False ZCCHC7@p.Y41C 1 0.095238095 ENSG00000147905 chr9:37126454-37126454;A/G missense_variant False ZCCHC7@p.R539T 1 0.205128205 ENSG00000147905 chr9:37357252-37357252;G/C missense_variant False ZCCHC7@p.R263C 1 0.443478261 ENSG00000147905 chr9:37305550-37305550;C/T missense_variant False ZCCHC7@p.L123F 1 0.109649123 ENSG00000147905 chr9:37126699-37126699;C/T missense_variant False ZCCHC7@p.E63Q 1 0.039370079 ENSG00000147905 chr9:37126519-37126519;G/C missense_variant False ZCCHC7@p.E20K 1 0.068783069 ENSG00000147905 chr9:37126390-37126390;G/A missense_variant False ZCCHC4@p.L46V 1 0.115789474 ENSG00000168228 chr4:25314054-25314054;C/G missense_variant False ZCCHC8@p.E535K 1 0.348765432 ENSG00000033030 chr12:122474018-122474018;C/T missense_variant False ZCCHC3@p.V400M 1 0.3125 ENSG00000247315 chr20:298784-298784;G/A missense_variant False ZCCHC3@p.M344I 1 0.224137931 ENSG00000247315 chr20:298618-298618;G/C missense_variant False ZCCHC3@p.M195I 1 0.132352941 ENSG00000247315 chr20:298171-298171;G/C missense_variant False ZCCHC3@p.E358K 1 0.422077922 ENSG00000247315 chr20:298658-298658;G/A missense_variant False ZCCHC3@p.E322K 1 0.387931034 ENSG00000247315 chr20:298550-298550;G/A missense_variant False ZCCHC3@p.E230K 1 0.279069767 ENSG00000247315 chr20:298274-298274;G/A missense_variant False ZCCHC8@p.E280K 1 0.322580645 ENSG00000033030 chr12:122481982-122481982;C/T missense_variant False ZCCHC8@p.E580K 1 0.125668449 ENSG00000033030 chr12:122473883-122473883;C/T missense_variant False ZEB2@p.D1192N 1 0.492063492 ENSG00000169554 chr2:144389522-144389522;C/T missense_variant False ZCWPW1@p.R17T 1 0.240963855 ENSG00000078487 chr7:100419862-100419862;C/G missense_variant False ZCWPW2@p.E272K 1 0.19047619 ENSG00000206559 chr3:28521021-28521021;G/A missense_variant False ZCWPW2@p.E265K 1 0.20754717 ENSG00000206559 chr3:28521000-28521000;G/A missense_variant False ZCWPW2@p.E166K 1 0.761904762 ENSG00000206559 chr3:28478817-28478817;G/A missense_variant False ZCWPW1@p.V602F 1 0.49122807 ENSG00000078487 chr7:100401157-100401157;C/A missense_variant False ZCWPW1@p.R623T 1 0.096385542 ENSG00000078487 chr7:100401093-100401093;C/G missense_variant False ZCWPW1@p.R228Q 1 0.08 ENSG00000078487 chr7:100416043-100416043;C/T missense_variant False ZCWPW1@p.I416V 1 0.252252252 ENSG00000078487 chr7:100405018-100405018;T/C missense_variant False ZCCHC8@p.F136Lfs*12 1 0.36 ENSG00000033030 chr12:122490480-122490480;G/- frameshift_variant False ZCCHC9@p.G239D 1 0.596153846 ENSG00000131732 chr5:81312562-81312562;G/A missense_variant False ZCCHC8@p.S601F 1 0.263392857 ENSG00000033030 chr12:122473819-122473819;G/A missense_variant False ZCCHC8@p.S597F 1 0.206225681 ENSG00000033030 chr12:122473831-122473831;G/A missense_variant False ZCCHC8@p.R79G 1 0.272727273 ENSG00000033030 chr12:122498834-122498834;G/C missense_variant False ZCCHC8@p.Q608H 1 0.258536585 ENSG00000033030 chr12:122473797-122473797;C/G missense_variant False ZCCHC8@p.N247Y 1 0.352941176 ENSG00000033030 chr12:122482081-122482081;T/A missense_variant False ZCCHC3@p.D213H 1 0.608695652 ENSG00000247315 chr20:298223-298223;G/C missense_variant False ZCCHC2@p.S782L 1 0.388888889 ENSG00000141664 chr18:62574426-62574426;C/T missense_variant False ZCCHC2@p.S1132L 1 0.509433962 ENSG00000141664 chr18:62575476-62575476;C/T missense_variant False ZC3H7B@p.K544R 1 0.291666667 ENSG00000100403 chr22:41346174-41346174;A/G missense_variant False ZC3HAV1@p.R158W 1 0.456692913 ENSG00000105939 chr7:139084005-139084005;G/A missense_variant False ZC3HAV1@p.Q420E 1 0.22972973 ENSG00000105939 chr7:139079683-139079683;G/C missense_variant False ZC3HAV1@p.Q278H 1 0.33 ENSG00000105939 chr7:139080107-139080107;C/A missense_variant False ZC3HAV1@p.G45W 1 0.3125 ENSG00000105939 chr7:139109199-139109199;C/A missense_variant False ZC3HAV1@p.E39K 1 0.4 ENSG00000105939 chr7:139109217-139109217;C/T missense_variant False ZC3HAV1@p.D869N 1 0.476190476 ENSG00000105939 chr7:139047698-139047698;C/T missense_variant False ZC3H7B@p.K172N 1 0.294117647 ENSG00000100403 chr22:41330094-41330094;G/C missense_variant False ZCCHC2@p.I587M 1 0.136363636 ENSG00000141664 chr18:62565011-62565011;T/G missense_variant False ZC3H7B@p.E446K 1 0.279069767 ENSG00000100403 chr22:41343453-41343453;G/A missense_variant False ZC3H7B@p.E287K 1 0.251798561 ENSG00000100403 chr22:41339858-41339858;G/A missense_variant False ZC3H7B@p.D690H 1 0.229166667 ENSG00000100403 chr22:41355502-41355502;G/C missense_variant False ZC3H7B@p.C909Y 1 0.130434783 ENSG00000100403 chr22:41357221-41357221;G/A missense_variant False ZC3H7A@p.S62* 1 0.178571429 ENSG00000122299 chr16:11779287-11779287;G/- frameshift_variant False ZC3H7A@p.R744_M746delinsL 1 0.425373134 ENSG00000122299 chr16:11761489-11761494;TCGCAC/- inframe_deletion False ZC3HAV1@p.R282M 1 0.224806202 ENSG00000105939 chr7:139080096-139080096;C/A missense_variant False ZC3HAV1@p.R307W 1 0.268292683 ENSG00000105939 chr7:139080022-139080022;G/A missense_variant False ZC3HC1@p.E76Q 1 0.34 ENSG00000091732 chr7:130049065-130049065;C/G missense_variant False ZC3HC1@p.H245D 1 0.25 ENSG00000091732 chr7:130026201-130026201;G/C missense_variant False ZC3HC1@p.P130Q 1 0.198795181 ENSG00000091732 chr7:130040971-130040971;G/T missense_variant False ZC3HC1@p.P99A 1 0.356796117 ENSG00000091732 chr7:130041065-130041065;G/C missense_variant False ZC3HC1@p.R23C 1 0.142857143 ENSG00000091732 chr7:130051300-130051300;G/A missense_variant False ZC4H2@p.E136K 1 0.727272727 ENSG00000126970 chrX:64919197-64919197;C/T missense_variant False ZCCHC10@p.K101N 1 0.339285714 ENSG00000155329 chr5:133000140-133000140;C/G missense_variant False ZCCHC12@p.Q141E 1 0.456692913 ENSG00000174460 chrX:118825665-118825665;C/G missense_variant False ZCCHC13@p.G134C 1 0.142857143 ENSG00000187969 chrX:74304666-74304666;G/T missense_variant False ZCCHC13@p.G95A 1 0.203703704 ENSG00000187969 chrX:74304550-74304550;G/C missense_variant False ZCCHC13@p.R102H 1 0.37804878 ENSG00000187969 chrX:74304571-74304571;G/A missense_variant False ZCCHC14@p.G269S 1 0.30952381 ENSG00000140948 chr16:87417627-87417627;C/T missense_variant False ZCCHC14@p.S589C 1 0.13559322 ENSG00000140948 chr16:87412544-87412544;G/C missense_variant False ZCCHC14@p.S642W 1 0.210526316 ENSG00000140948 chr16:87412385-87412385;G/C missense_variant False ZCCHC24@p.G182R 1 0.213836478 ENSG00000165424 chr10:79394344-79394344;C/T missense_variant False ZCWPW2@p.K244E 1 0.185185185 ENSG00000206559 chr3:28515567-28515567;A/G missense_variant False ZCWPW2@p.R148I 1 0.112903226 ENSG00000206559 chr3:28435220-28435220;G/T missense_variant False ZCWPW2@p.V134A 1 0.111111111 ENSG00000206559 chr3:28435178-28435178;T/C missense_variant False ZDHHC3@p.E256K 1 0.151515152 ENSG00000163812 chr3:44926823-44926823;C/T missense_variant False ZDHHC6@p.D374H 1 0.3 ENSG00000023041 chr10:112432258-112432258;C/G missense_variant False ZDHHC6@p.C34S 1 0.255319149 ENSG00000023041 chr10:112445337-112445337;A/T missense_variant False ZDHHC5@p.E490Q 1 0.197674419 ENSG00000156599 chr11:57698904-57698904;G/C missense_variant False ZDHHC5@p.E176Q 1 0.187845304 ENSG00000156599 chr11:57690172-57690172;G/C missense_variant False ZDHHC5@p.E176K 1 0.063829787 ENSG00000156599 chr11:57690172-57690172;G/A missense_variant False ZDHHC3@p.M189V 1 0.195876289 ENSG00000163812 chr3:44933163-44933163;T/C missense_variant False ZDHHC3@p.C132Y 1 0.434210526 ENSG00000163812 chr3:44945204-44945204;C/T missense_variant False ZDHHC20@p.S328N 1 0.711864407 ENSG00000180776 chr13:21381511-21381511;C/T missense_variant False ZDHHC2@p.R110Q 1 0.833333333 ENSG00000104219 chr8:17195580-17195580;G/A missense_variant False ZDHHC23@p.R76H 1 0.508474576 ENSG00000184307 chr3:113953765-113953765;G/A missense_variant False ZDHHC22@p.P88A 1 0.333333333 ENSG00000177108 chr14:77139477-77139477;G/C missense_variant False ZDHHC22@p.L189P 1 0.733333333 ENSG00000177108 chr14:77133909-77133909;A/G missense_variant False ZDHHC22@p.C97F 1 0.272727273 ENSG00000177108 chr14:77139449-77139449;C/A missense_variant False ZDHHC21@p.G13C 1 0.160621762 ENSG00000175893 chr9:14674304-14674304;C/A missense_variant False ZDHHC6@p.F276Rfs*4 1 0.0875 ENSG00000023041 chr10:112434365-112434375;ACCACGTAAAT/- frameshift_variant False ZDHHC7@p.L190V 1 0.527472527 ENSG00000153786 chr16:84977975-84977975;G/C missense_variant False ZDHHC8@p.A469S 1 0.179487179 ENSG00000099904 chr22:20143035-20143035;G/T missense_variant False ZDHHC8@p.N51S 1 0.340206186 ENSG00000099904 chr22:20139241-20139241;A/G missense_variant False ZDHHC9@p.S210C 1 0.511111111 ENSG00000188706 chrX:129813722-129813722;G/C missense_variant False ZDHHC9@p.T247A 1 0.168141593 ENSG00000188706 chrX:129812756-129812756;T/C missense_variant False ZEB1@p.D32N 1 0.107142857 ENSG00000148516 chr10:31461072-31461072;G/A missense_variant False ZEB1@p.E1083K 1 0.235294118 ENSG00000148516 chr10:31527136-31527136;G/A missense_variant False ZEB1@p.E111K 1 0.246153846 ENSG00000148516 chr10:31502359-31502359;G/A missense_variant False ZEB1@p.E187Q 1 0.215909091 ENSG00000148516 chr10:31510750-31510750;G/C missense_variant False ZEB1@p.E194K 1 0.155555556 ENSG00000148516 chr10:31510771-31510771;G/A missense_variant False ZEB1@p.E510K 1 0.055045872 ENSG00000148516 chr10:31520863-31520863;G/A missense_variant False ZEB1@p.E523Q 1 0.127906977 ENSG00000148516 chr10:31520902-31520902;G/C missense_variant False ZEB1@p.K331N 1 0.302325581 ENSG00000148516 chr10:31520328-31520328;G/C missense_variant False ZEB1@p.Q961E 1 0.282608696 ENSG00000148516 chr10:31526770-31526770;C/G missense_variant False ZEB1@p.R714K 1 0.505747126 ENSG00000148516 chr10:31521476-31521476;G/A missense_variant False ZEB1@p.S612L 1 0.372093023 ENSG00000148516 chr10:31521170-31521170;C/T missense_variant False ZDHHC21@p.F246L 1 0.386363636 ENSG00000175893 chr9:14619026-14619026;G/C missense_variant False ZDHHC20@p.S166C 1 0.25 ENSG00000180776 chr13:21400470-21400470;G/C missense_variant False ZDBF2@p.C1752G 1 0.258064516 ENSG00000204186 chr2:206309782-206309782;T/G missense_variant False ZDBF2@p.M467I 1 0.35483871 ENSG00000204186 chr2:206305929-206305929;G/A missense_variant False ZDBF2@p.S317F 1 0.375 ENSG00000204186 chr2:206305478-206305478;C/T missense_variant False ZDBF2@p.S111L 1 0.408163265 ENSG00000204186 chr2:206304860-206304860;C/T missense_variant False ZDBF2@p.S1084C 1 0.298245614 ENSG00000204186 chr2:206307779-206307779;C/G missense_variant False ZDBF2@p.R2076H 1 0.4625 ENSG00000204186 chr2:206310755-206310755;G/A missense_variant False ZDBF2@p.R2047Q 1 0.333333333 ENSG00000204186 chr2:206310668-206310668;G/A missense_variant False ZDBF2@p.Q125E 1 0.25 ENSG00000204186 chr2:206304901-206304901;C/G missense_variant False ZDBF2@p.I155T 1 0.56 ENSG00000204186 chr2:206304992-206304992;T/C missense_variant False ZDHHC20@p.F24L 1 0.172413793 ENSG00000180776 chr13:21459102-21459102;A/G missense_variant False ZDBF2@p.H766Y 1 0.536082474 ENSG00000204186 chr2:206306824-206306824;C/T missense_variant False ZDBF2@p.E856Q 1 0.105263158 ENSG00000204186 chr2:206307094-206307094;G/C missense_variant False ZDBF2@p.E115A 1 0.107142857 ENSG00000204186 chr2:206304872-206304872;A/C missense_variant False ZDBF2@p.D528H 1 0.140625 ENSG00000204186 chr2:206306110-206306110;G/C missense_variant False ZDBF2@p.D50H 1 0.293478261 ENSG00000204186 chr2:206297333-206297333;G/C missense_variant False ZDBF2@p.D1559Y 1 0.9 ENSG00000204186 chr2:206309203-206309203;G/T missense_variant False ZDBF2@p.S926L 1 0.315789474 ENSG00000204186 chr2:206307305-206307305;C/T missense_variant False ZDBF2@p.V1011I 1 0.166666667 ENSG00000204186 chr2:206307559-206307559;G/A missense_variant False ZDBF2@p.V182Sfs*4 1 0.372093023 ENSG00000204186 chr2:206305064-206305065;-/C frameshift_variant False ZDBF2@p.Y2195C 1 0.253731343 ENSG00000204186 chr2:206311112-206311112;A/G missense_variant False ZDHHC11@p.M294I 1 0.14861461 ENSG00000188818 chr5:837383-837383;C/T missense_variant False ZDHHC13@p.F376L 1 0.135802469 ENSG00000177054 chr11:19163322-19163322;C/G missense_variant False ZDHHC14@p.Q353H 1 0.357142857 ENSG00000175048 chr6:157653618-157653618;G/C missense_variant False ZDHHC14@p.R147H 1 0.186813187 ENSG00000175048 chr6:157593021-157593021;G/A missense_variant False ZDHHC14@p.V105L 1 0.353658537 ENSG00000175048 chr6:157542652-157542652;G/T missense_variant False ZDHHC14@p.Y211N 1 0.199074074 ENSG00000175048 chr6:157628414-157628414;T/A missense_variant False ZDHHC15@p.I59R 1 0.619047619 ENSG00000102383 chrX:75478973-75478973;A/C missense_variant False ZDHHC15@p.K278M 1 0.216216216 ENSG00000102383 chrX:75421894-75421894;T/A missense_variant False ZDHHC16@p.M359I 1 0.2 ENSG00000171307 chr10:97456834-97456834;G/A missense_variant False ZDHHC17@p.H465Y 1 0.472727273 ENSG00000186908 chr12:76845772-76845772;C/T missense_variant False ZDHHC19@p.L162Rfs*93 1 0.439393939 ENSG00000163958 chr3:196208462-196208484;GCCCGAGTAGAGGCACAGGGACA/- frameshift_variant False ZDHHC19@p.L280Rfs*73 1 0.158730159 ENSG00000163958 chr3:196198386-196198386;A/- frameshift_variant False ZDHHC1@p.Q383E 1 0.135135135 ENSG00000159714 chr16:67395085-67395085;G/C missense_variant False ZC3H7A@p.R728T 1 0.454545455 ENSG00000122299 chr16:11761940-11761940;C/G missense_variant False ZC3H7A@p.H228Y 1 0.419354839 ENSG00000122299 chr16:11774457-11774457;G/A missense_variant False ZC3H7A@p.E437K 1 0.27388535 ENSG00000122299 chr16:11768366-11768366;C/T missense_variant False ZBTB7B@p.D306N 1 0.142857143 ENSG00000160685 chr1:155015576-155015576;G/A missense_variant False ZBTB7B@p.L122F 1 0.108695652 ENSG00000160685 chr1:155015024-155015024;C/T missense_variant False ZBTB7B@p.H356Mfs*10 1 0.293333333 ENSG00000160685 chr1:155015725-155015725;C/- frameshift_variant False ZBTB7B@p.E371K 1 0.204819277 ENSG00000160685 chr1:155015771-155015771;G/A missense_variant False ZBTB7B@p.E104Q 1 0.059701493 ENSG00000160685 chr1:155014970-155014970;G/C missense_variant False ZBTB7B@p.D416N 1 0.242424242 ENSG00000160685 chr1:155016311-155016311;G/A missense_variant False ZBTB7B@p.D416H 1 0.268817204 ENSG00000160685 chr1:155016311-155016311;G/C missense_variant False ZBTB7B@p.D306H 1 0.074380165 ENSG00000160685 chr1:155015576-155015576;G/C missense_variant False ZBTB5@p.S276F 1 0.157894737 ENSG00000168795 chr9:37441725-37441725;G/A missense_variant False ZBTB7A@p.R496C 1 0.391304348 ENSG00000178951 chr19:4048021-4048021;G/A missense_variant False ZBTB7A@p.I386N 1 0.392405063 ENSG00000178951 chr19:4054076-4054076;A/T missense_variant False ZBTB7A@p.G562D 1 0.18487395 ENSG00000178951 chr19:4047822-4047822;C/T missense_variant False ZBTB7A@p.A92T 1 0.205128205 ENSG00000178951 chr19:4054959-4054959;C/T missense_variant False ZBTB6@p.V404L 1 0.295081967 ENSG00000186130 chr9:122910863-122910863;C/G missense_variant False ZBTB6@p.E191Q 1 0.4875 ENSG00000186130 chr9:122911502-122911502;C/G missense_variant False ZBTB7B@p.R363C 1 0.375 ENSG00000160685 chr1:155015747-155015747;C/T missense_variant False ZBTB7C@p.C425F 1 0.314285714 ENSG00000184828 chr18:48029846-48029846;C/A missense_variant False ZBTB7C@p.E152D 1 0.185185185 ENSG00000184828 chr18:48040652-48040652;C/G missense_variant False ZBTB8A@p.L213F 1 0.230769231 ENSG00000160062 chr1:32593570-32593570;G/C missense_variant False ZBTB8A@p.Q248H 1 0.18487395 ENSG00000160062 chr1:32593675-32593675;G/C missense_variant False ZBTB8A@p.S27N 1 0.101265823 ENSG00000160062 chr1:32593011-32593011;G/A missense_variant False ZBTB8OS@p.S137* 1 0.102564103 ENSG00000176261 chr1:32631833-32631833;G/- frameshift_variant False ZBTB9@p.E202Q 1 0.152671756 ENSG00000213588 chr6:33455704-33455704;G/C missense_variant False ZBTB9@p.L454V 1 0.552 ENSG00000213588 chr6:33456460-33456460;C/G missense_variant False ZC2HC1A@p.F26L 1 0.123966942 ENSG00000104427 chr8:78675848-78675848;C/G missense_variant False ZC2HC1A@p.H226D 1 0.356164384 ENSG00000104427 chr8:78698485-78698485;C/G missense_variant False ZC2HC1A@p.P180A 1 0.14084507 ENSG00000104427 chr8:78697440-78697440;C/G missense_variant False ZC2HC1A@p.R165W 1 0.171052632 ENSG00000104427 chr8:78689362-78689362;C/T missense_variant False ZC2HC1C@p.A428D 1 0.28 ENSG00000119703 chr14:75071856-75071856;C/A missense_variant False ZC2HC1C@p.L45F 1 0.327433628 ENSG00000119703 chr14:75070708-75070708;G/C missense_variant False ZC2HC1C@p.R396H 1 0.083333333 ENSG00000119703 chr14:75071760-75071760;G/A missense_variant False ZC3H10@p.Y420H 1 0.6 ENSG00000135482 chr12:56121820-56121820;T/C missense_variant False ZBTB6@p.D272H 1 0.362318841 ENSG00000186130 chr9:122911259-122911259;C/G missense_variant False ZBTB5@p.R132H 1 0.057894737 ENSG00000168795 chr9:37442157-37442157;C/T missense_variant False ZC3H11A@p.N130S 1 0.686170213 ENSG00000058673 chr1:203829541-203829541;A/G missense_variant False ZBTB47@p.E383K 1 0.3 ENSG00000114853 chr3:42659502-42659502;G/A missense_variant False ZBTB48@p.E664K 1 0.161290323 ENSG00000204859 chr1:6589135-6589135;G/A missense_variant False ZBTB48@p.E268K 1 0.320754717 ENSG00000204859 chr1:6582169-6582169;G/A missense_variant False ZBTB47@p.S571L 1 0.261538462 ENSG00000114853 chr3:42663102-42663102;C/T missense_variant False ZBTB47@p.R416L 1 0.210526316 ENSG00000114853 chr3:42659602-42659602;G/T missense_variant False ZBTB47@p.K616E 1 0.2 ENSG00000114853 chr3:42663905-42663905;A/G missense_variant False ZBTB47@p.E526Q 1 0.1625 ENSG00000114853 chr3:42661587-42661587;G/C missense_variant False ZBTB47@p.C495Y 1 0.406593407 ENSG00000114853 chr3:42661495-42661495;G/A missense_variant False ZBTB5@p.Q253R 1 0.132075472 ENSG00000168795 chr9:37441794-37441794;T/C missense_variant False ZBTB46@p.R173W 1 0.578947368 ENSG00000130584 chr20:63790241-63790241;G/A missense_variant False ZBTB46@p.F89L 1 0.322033898 ENSG00000130584 chr20:63790491-63790491;G/C missense_variant False ZBTB46@p.E145Q 1 0.321428571 ENSG00000130584 chr20:63790325-63790325;C/G missense_variant False ZBTB45@p.S43L 1 0.434782609 ENSG00000119574 chr19:58517546-58517546;G/A missense_variant False ZBTB45@p.H425Y 1 0.428571429 ENSG00000119574 chr19:58516401-58516401;G/A missense_variant False ZBTB45@p.E484K 1 0.428571429 ENSG00000119574 chr19:58514140-58514140;C/T missense_variant False ZBTB48@p.R255T 1 0.391304348 ENSG00000204859 chr1:6582131-6582131;G/C missense_variant False ZBTB48@p.R503P 1 0.170731707 ENSG00000204859 chr1:6588188-6588188;G/C missense_variant False ZBTB49@p.D707N 1 0.095238095 ENSG00000168826 chr4:4321137-4321137;G/A missense_variant False ZBTB49@p.D725N 1 0.428571429 ENSG00000168826 chr4:4321191-4321191;G/A missense_variant False ZBTB49@p.F432L 1 0.535714286 ENSG00000168826 chr4:4306178-4306178;C/A missense_variant False ZBTB49@p.H86Y 1 0.30952381 ENSG00000168826 chr4:4302092-4302092;C/T missense_variant False ZBTB49@p.I472F 1 0.444444444 ENSG00000168826 chr4:4315673-4315673;A/T missense_variant False ZBTB49@p.P3L 1 0.423076923 ENSG00000168826 chr4:4299953-4299953;C/T missense_variant False ZBTB49@p.S446C 1 0.298701299 ENSG00000168826 chr4:4313075-4313075;C/G missense_variant False ZBTB49@p.S648C 1 0.2 ENSG00000168826 chr4:4320961-4320961;C/G missense_variant False ZBTB4@p.E637Q 1 0.7 ENSG00000174282 chr17:7463073-7463073;C/G missense_variant False ZBTB4@p.K956N 1 0.114982578 ENSG00000174282 chr17:7462114-7462114;C/A missense_variant False ZBTB4@p.L65P 1 0.405405405 ENSG00000174282 chr17:7466608-7466608;A/G missense_variant False ZBTB4@p.P798R 1 0.147651007 ENSG00000174282 chr17:7462589-7462589;G/C missense_variant False ZBTB5@p.F421L 1 0.266666667 ENSG00000168795 chr9:37441289-37441289;A/C missense_variant False ZBTB5@p.M325I 1 0.148148148 ENSG00000168795 chr9:37441577-37441577;C/T missense_variant False ZBTB5@p.P432T 1 0.409836066 ENSG00000168795 chr9:37441258-37441258;G/T missense_variant False ZC3H11A@p.D7H 1 0.164835165 ENSG00000058673 chr1:203817089-203817089;G/C missense_variant False ZC3H12A@p.E41K 1 0.365853659 ENSG00000163874 chr1:37475617-37475617;G/A missense_variant False ZC3H6@p.T1160A 1 0.106060606 ENSG00000188177 chr2:112332396-112332396;A/G missense_variant False ZC3H18@p.R772T 1 0.263157895 ENSG00000158545 chr16:88627965-88627965;G/C missense_variant False ZC3H3@p.S431C 1 0.208333333 ENSG00000014164 chr8:143538075-143538075;G/C missense_variant False ZC3H3@p.R580C 1 0.5 ENSG00000014164 chr8:143475563-143475563;G/A missense_variant False ZC3H3@p.P257A 1 0.235294118 ENSG00000014164 chr8:143538598-143538598;G/C missense_variant False ZC3H3@p.G38Afs*7 1 0.147826087 ENSG00000014164 chr8:143539235-143539254;GTAAGTGGGTGGCTGCCACC/- frameshift_variant False ZC3H3@p.A225V 1 0.073170732 ENSG00000014164 chr8:143538693-143538693;G/A missense_variant False ZC3H18@p.T316Qfs*18 1 0.202614379 ENSG00000158545 chr16:88599802-88599803;-/GC frameshift_variant False ZC3H18@p.Q172H 1 0.142857143 ENSG00000158545 chr16:88577639-88577639;G/C missense_variant False ZC3H14@p.N425I 1 0.186440678 ENSG00000100722 chr14:88578135-88578135;A/T missense_variant False ZC3H18@p.E767Q 1 0.154639175 ENSG00000158545 chr16:88627949-88627949;G/C missense_variant False ZC3H18@p.D10H 1 0.134615385 ENSG00000158545 chr16:88577151-88577151;G/C missense_variant False ZC3H15@p.Y358C 1 0.264150943 ENSG00000065548 chr2:186506819-186506819;A/G missense_variant False ZC3H15@p.A65D 1 0.285714286 ENSG00000065548 chr2:186500198-186500198;C/A missense_variant False ZC3H14@p.R660I 1 0.397260274 ENSG00000100722 chr14:88609377-88609377;G/T missense_variant False ZC3H14@p.R600C 1 0.208 ENSG00000100722 chr14:88607293-88607293;C/T missense_variant False ZC3H3@p.S892T 1 0.380952381 ENSG00000014164 chr8:143440182-143440182;A/T missense_variant False ZC3H4@p.E1239K 1 0.363636364 ENSG00000130749 chr19:47066553-47066553;C/T missense_variant False ZC3H4@p.E305K 1 0.407894737 ENSG00000130749 chr19:47085372-47085372;C/T missense_variant False ZC3H4@p.E727K 1 0.210526316 ENSG00000130749 chr19:47069311-47069311;C/T missense_variant False ZC3H4@p.E780Q 1 0.236842105 ENSG00000130749 chr19:47069152-47069152;C/G missense_variant False ZC3H4@p.E799K 1 0.303571429 ENSG00000130749 chr19:47069095-47069095;C/T missense_variant False ZC3H4@p.E80Q 1 0.03963964 ENSG00000130749 chr19:47094532-47094532;C/G missense_variant False ZC3H4@p.I429M 1 0.109756098 ENSG00000130749 chr19:47082227-47082227;G/C missense_variant False ZC3H6@p.D883H 1 0.225806452 ENSG00000188177 chr2:112331565-112331565;G/C missense_variant False ZC3H6@p.E271K 1 0.451612903 ENSG00000188177 chr2:112316533-112316533;G/A missense_variant False ZC3H6@p.E773Q 1 0.175 ENSG00000188177 chr2:112331235-112331235;G/C missense_variant False ZC3H6@p.F837L 1 0.475247525 ENSG00000188177 chr2:112331429-112331429;C/A missense_variant False ZC3H6@p.P481S 1 0.245901639 ENSG00000188177 chr2:112324252-112324252;C/T missense_variant False ZC3H6@p.P963S 1 0.2 ENSG00000188177 chr2:112331805-112331805;C/T missense_variant False ZC3H6@p.S798C 1 0.193181818 ENSG00000188177 chr2:112331311-112331311;C/G missense_variant False ZC3H6@p.S799F 1 0.467741935 ENSG00000188177 chr2:112331314-112331314;C/T missense_variant False ZC3H6@p.S896C 1 0.433333333 ENSG00000188177 chr2:112331605-112331605;C/G missense_variant False ZC3H14@p.P335S 1 0.411764706 ENSG00000100722 chr14:88574834-88574834;C/T missense_variant False ZC3H14@p.K99N 1 0.159292035 ENSG00000100722 chr14:88572091-88572091;G/C missense_variant False ZC3H12A@p.E449Q 1 0.210526316 ENSG00000163874 chr1:37483156-37483156;G/C missense_variant False ZC3H12B@p.E645Q 1 0.206896552 ENSG00000102053 chrX:65502631-65502631;G/C missense_variant False ZC3H12C@p.S624C 1 0.133333333 ENSG00000149289 chr11:110164956-110164956;C/G missense_variant False ZC3H12C@p.R686T 1 0.278538813 ENSG00000149289 chr11:110165142-110165142;G/C missense_variant False ZC3H12C@p.R452T 1 0.344827586 ENSG00000149289 chr11:110164440-110164440;G/C missense_variant False ZC3H12C@p.H664N 1 0.5 ENSG00000149289 chr11:110165075-110165075;C/A missense_variant False ZC3H12C@p.D139N 1 0.28125 ENSG00000149289 chr11:110137056-110137056;G/A missense_variant False ZC3H12B@p.L747F 1 0.592592593 ENSG00000102053 chrX:65502939-65502939;G/C missense_variant False ZC3H12B@p.D281N 1 0.214285714 ENSG00000102053 chrX:65499091-65499091;G/A missense_variant False ZC3H14@p.H656D 1 0.5375 ENSG00000100722 chr14:88609364-88609364;C/G missense_variant False ZC3H12A@p.S44L 1 0.340425532 ENSG00000163874 chr1:37475627-37475627;C/T missense_variant False ZC3H12A@p.R347Qfs*26 1 0.333333333 ENSG00000163874 chr1:37482843-37482844;-/C frameshift_variant False ZC3H12A@p.R253P 1 0.36 ENSG00000163874 chr1:37481775-37481775;G/C missense_variant False ZC3H12A@p.P565T 1 0.3 ENSG00000163874 chr1:37483504-37483504;C/A missense_variant False ZC3H12A@p.M50I 1 0.206896552 ENSG00000163874 chr1:37475646-37475646;G/T missense_variant False ZC3H12A@p.E7Q 1 0.168421053 ENSG00000163874 chr1:37475515-37475515;G/C missense_variant False ZC3H12D@p.E209K 1 0.2 ENSG00000178199 chr6:149456721-149456721;C/T missense_variant False ZC3H13@p.D1013N 1 0.142857143 ENSG00000123200 chr13:45969507-45969507;C/T missense_variant False ZC3H13@p.D657N 1 0.126582278 ENSG00000123200 chr13:45975782-45975782;C/T missense_variant False ZC3H13@p.E546Q 1 0.0625 ENSG00000123200 chr13:45985381-45985381;C/G missense_variant False ZC3H13@p.G1012D 1 0.697674419 ENSG00000123200 chr13:45969509-45969509;C/T missense_variant False ZC3H13@p.K310N 1 0.125 ENSG00000123200 chr13:46003153-46003153;C/G missense_variant False ZC3H13@p.M1527R 1 0.407407407 ENSG00000123200 chr13:45963934-45963934;A/C missense_variant False ZC3H13@p.P135S 1 0.136363636 ENSG00000123200 chr13:46020494-46020494;G/A missense_variant False ZC3H13@p.Q923H 1 0.057142857 ENSG00000123200 chr13:45969775-45969775;C/G missense_variant False ZC3H13@p.R483K 1 0.059602649 ENSG00000123200 chr13:45985569-45985569;C/T missense_variant False ZC3H13@p.R487T 1 0.111607143 ENSG00000123200 chr13:45985557-45985557;C/G missense_variant False ZC3H13@p.R540C 1 0.494117647 ENSG00000123200 chr13:45985399-45985399;G/A missense_variant False ZC3H13@p.R753Kfs*111 1 0.3 ENSG00000123200 chr13:45975492-45975495;TCTT/- frameshift_variant False ZC3H13@p.R86T 1 0.276190476 ENSG00000123200 chr13:46042246-46042246;C/G missense_variant False ZC3H13@p.S110L 1 0.083333333 ENSG00000123200 chr13:46042174-46042174;G/A missense_variant False ZC3H14@p.E256Q 1 0.271428571 ENSG00000100722 chr14:88572912-88572912;G/C missense_variant False ZC3H14@p.E415G 1 0.055944056 ENSG00000100722 chr14:88578105-88578105;A/G missense_variant False ZEB1@p.V298A 1 0.12962963 ENSG00000148516 chr10:31520228-31520228;T/C missense_variant False ZEB2@p.D546H 1 0.372727273 ENSG00000169554 chr2:144399551-144399551;C/G missense_variant False ZFYVE26@p.D1267N 1 0.038461538 ENSG00000072121 chr14:67783353-67783353;C/T missense_variant False ZFP37@p.E14Q 1 0.103448276 ENSG00000136866 chr9:113056649-113056649;C/G missense_variant False ZFP37@p.R387T 1 0.328244275 ENSG00000136866 chr9:113043458-113043458;C/G missense_variant False ZFP37@p.Q119H 1 0.313253012 ENSG00000136866 chr9:113044261-113044261;C/G missense_variant False ZFP37@p.P460R 1 0.112359551 ENSG00000136866 chr9:113043239-113043239;G/C missense_variant False ZFP37@p.H559Y 1 0.390410959 ENSG00000136866 chr9:113042943-113042943;G/A missense_variant False ZFP37@p.G523R 1 0.330578512 ENSG00000136866 chr9:113043051-113043051;C/G missense_variant False ZFP37@p.E178Q 1 0.183673469 ENSG00000136866 chr9:113044086-113044086;C/G missense_variant False ZFP37@p.C519G 1 0.68 ENSG00000136866 chr9:113043063-113043063;A/C missense_variant False ZFP37@p.S418L 1 0.594059406 ENSG00000136866 chr9:113043365-113043365;G/A missense_variant False ZFP36L2@p.T38Dfs*46 1 0.558823529 ENSG00000152518 chr2:43225692-43225693;-/C frameshift_variant False ZFP36L2@p.S259G 1 0.304347826 ENSG00000152518 chr2:43225029-43225029;T/C missense_variant False ZFP36L2@p.S131Qfs*343 1 0.333333333 ENSG00000152518 chr2:43225414-43225415;-/C frameshift_variant False ZFP36L2@p.S123L 1 0.541666667 ENSG00000152518 chr2:43225436-43225436;G/A missense_variant False ZFP36L2@p.G209R 1 0.333333333 ENSG00000152518 chr2:43225179-43225179;C/T missense_variant False ZFP36L2@p.E249Q 1 0.085106383 ENSG00000152518 chr2:43225059-43225059;C/G missense_variant False ZFP37@p.R537T 1 0.392405063 ENSG00000136866 chr9:113043008-113043008;C/G missense_variant False ZFP37@p.V396L 1 0.581395349 ENSG00000136866 chr9:113043432-113043432;C/A missense_variant False ZEB2@p.D86Rfs*2 1 0.396825397 ENSG00000169554 chr2:144429844-144429845;-/T frameshift_variant False ZFP42@p.S33I 1 0.339622642 ENSG00000179059 chr4:188002905-188002905;G/T missense_variant False ZFP64@p.E627K 1 0.520833333 ENSG00000020256 chr20:52152313-52152313;C/T missense_variant False ZFP57@p.Q503K 1 0.191919192 ENSG00000204644 chr6:29672604-29672604;G/T missense_variant False ZFP57@p.L365V 1 0.552511416 ENSG00000204644 chr6:29673018-29673018;G/C missense_variant False ZFP57@p.E47Q 1 0.267857143 ENSG00000204644 chr6:29676044-29676044;C/G missense_variant False ZFP57@p.D237N 1 0.224806202 ENSG00000204644 chr6:29673402-29673402;C/T missense_variant False ZFP57@p.C145F 1 0.362318841 ENSG00000204644 chr6:29673677-29673677;C/A missense_variant False ZFP42@p.S230L 1 0.425 ENSG00000179059 chr4:188003496-188003496;C/T missense_variant False ZFP3@p.A198V 1 0.825396825 ENSG00000180787 chr17:5092097-5092097;C/T missense_variant False ZFP42@p.G64R 1 0.109375 ENSG00000179059 chr4:188002997-188002997;G/C missense_variant False ZFP42@p.E242K 1 0.369565217 ENSG00000179059 chr4:188003531-188003531;G/A missense_variant False ZFP41@p.S183G 1 0.101796407 ENSG00000181638 chr8:143250390-143250390;A/G missense_variant False ZFP41@p.R26I 1 0.260869565 ENSG00000181638 chr8:143249920-143249920;G/T missense_variant False ZFP41@p.R135T 1 0.067567568 ENSG00000181638 chr8:143250247-143250247;G/C missense_variant False ZFP3@p.E455Q 1 0.102040816 ENSG00000180787 chr17:5092867-5092867;G/C missense_variant False ZFP36L2@p.E163K 1 0.32 ENSG00000152518 chr2:43225317-43225317;C/T missense_variant False ZFP36L2@p.D240H 1 0.24137931 ENSG00000152518 chr2:43225086-43225086;C/G missense_variant False ZFP36L2@p.D232V 1 0.3 ENSG00000152518 chr2:43225109-43225109;T/A missense_variant False ZFP36L1@p.F137Sfs*4 1 0.252873563 ENSG00000185650 chr14:68790119-68790140;AGCTCGTGGATGCCGTGTGCGA/- frameshift_variant False ZFP36L1@p.H162_T163del 1 0.582089552 ENSG00000185650 chr14:68790061-68790066;GGTGTG/- inframe_deletion False ZFP36L1@p.H162Pfs*19 1 0.183908046 ENSG00000185650 chr14:68790067-68790068;-/A frameshift_variant False ZFP36L1@p.G95V 1 0.456140351 ENSG00000185650 chr14:68790266-68790266;C/A missense_variant False ZFP36L1@p.G73S 1 0.442307692 ENSG00000185650 chr14:68790333-68790333;C/T missense_variant False ZFP36L1@p.G271Vfs*36 1 0.393162393 ENSG00000185650 chr14:68789738-68789738;C/- frameshift_variant False ZFP36L1@p.F262L 1 0.418181818 ENSG00000185650 chr14:68789766-68789766;A/G missense_variant False ZFP36L1@p.F11Yfs*63 1 0.268518519 ENSG00000185650 chr14:68792889-68792907;AAAACTTCGCTCAAGTCGA/- frameshift_variant False ZFP36L2@p.D219Y 1 0.333333333 ENSG00000152518 chr2:43225149-43225149;C/A missense_variant False ZFP36L1@p.E96Rfs*29 1 0.311827957 ENSG00000185650 chr14:68790264-68790265;-/G frameshift_variant False ZFP36L1@p.D245Rfs*5 1 0.310734463 ENSG00000185650 chr14:68789817-68789818;-/G frameshift_variant False ZFP36L1@p.C34Lfs*41 1 0.692307692 ENSG00000185650 chr14:68790451-68790452;-/C frameshift_variant False ZFP36L1@p.A78Pfs*3 1 0.171428571 ENSG00000185650 chr14:68790318-68790319;-/GG frameshift_variant False ZFP36L1@p.A186T 1 0.1875 ENSG00000185650 chr14:68789994-68789994;C/T missense_variant False ZFP36@p.S119L 1 0.082568807 ENSG00000128016 chr19:39408056-39408056;C/T missense_variant False ZFP36L1@p.H200Rfs*34 1 0.272727273 ENSG00000185650 chr14:68789951-68789952;-/GC frameshift_variant False ZFP36L1@p.I141Hfs*40 1 0.396039604 ENSG00000185650 chr14:68790130-68790131;-/C frameshift_variant False ZFP36L1@p.N248Kfs*2 1 0.145348837 ENSG00000185650 chr14:68789806-68789807;-/T frameshift_variant False ZFP36L1@p.N323Tfs*40 1 0.225806452 ENSG00000185650 chr14:68789582-68789583;-/TG frameshift_variant False ZFP36L1@p.P196Sfs*6 1 0.555555556 ENSG00000185650 chr14:68789965-68789966;-/C frameshift_variant False ZFP36L1@p.P230Lfs*3 1 0.316326531 ENSG00000185650 chr14:68789861-68789861;G/- frameshift_variant False ZFP36L1@p.P264Rfs*21 1 0.339805825 ENSG00000185650 chr14:68789743-68789759;GGGCAGCCCCATGCTAG/- frameshift_variant False ZFP36L1@p.Q199Pfs*3 1 0.428571429 ENSG00000185650 chr14:68789956-68789957;-/A frameshift_variant False ZFP36L1@p.R114Qfs*12 1 0.138888889 ENSG00000185650 chr14:68790209-68790210;-/GGCT frameshift_variant False ZFP36L1@p.R51W 1 0.279069767 ENSG00000185650 chr14:68790399-68790399;G/A missense_variant False ZFP36L1@p.R87G 1 0.2 ENSG00000185650 chr14:68790291-68790291;G/C missense_variant False ZFP36L1@p.S273Lfs*18 1 0.14084507 ENSG00000185650 chr14:68789734-68789735;-/C frameshift_variant False ZFP36L1@p.S294Qfs*45 1 0.227272727 ENSG00000185650 chr14:68789670-68789671;-/G frameshift_variant False ZFP36L1@p.S312R 1 0.226337449 ENSG00000185650 chr14:68789616-68789616;T/G missense_variant False ZFP36L1@p.T213Hfs*24 1 0.161490683 ENSG00000185650 chr14:68789913-68789914;-/G frameshift_variant False ZFP36L1@p.T43Hfs*32 1 0.142857143 ENSG00000185650 chr14:68790424-68790425;-/C frameshift_variant False ZFP36L1@p.Y169C 1 0.331034483 ENSG00000185650 chr14:68790044-68790044;T/C missense_variant False ZFP69@p.D195H 1 0.375 ENSG00000187815 chr1:40495061-40495061;G/C missense_variant False ZFP69@p.R347K 1 0.274509804 ENSG00000187815 chr1:40495518-40495518;G/A missense_variant False ZFP69@p.R431I 1 0.446153846 ENSG00000187815 chr1:40495770-40495770;G/T missense_variant False ZFX@p.D17H 1 0.377358491 ENSG00000005889 chrX:24172791-24172791;G/C missense_variant False ZFY@p.V352L 1 0.291666667 ENSG00000067646 chrY:2976795-2976795;G/T missense_variant False ZFY@p.S557L 1 0.212121212 ENSG00000067646 chrY:2979257-2979257;C/T missense_variant False ZFY@p.H690N 1 0.765765766 ENSG00000067646 chrY:2979655-2979655;C/A missense_variant False ZFX@p.S177L 1 0.311320755 ENSG00000005889 chrX:24179654-24179654;C/T missense_variant False ZFX@p.L285I 1 0.082802548 ENSG00000005889 chrX:24207768-24207768;C/A missense_variant False ZFX@p.E779Q 1 0.113513514 ENSG00000005889 chrX:24211293-24211293;G/C missense_variant False ZFR@p.V540G 1 0.053191489 ENSG00000056097 chr5:32400101-32400101;A/C missense_variant False ZFPM2@p.S628C 1 0.333333333 ENSG00000169946 chr8:105801965-105801965;C/G missense_variant False ZFR@p.R969T 1 0.535087719 ENSG00000056097 chr5:32364205-32364205;C/G missense_variant False ZFR@p.Q196E 1 0.111111111 ENSG00000056097 chr5:32415167-32415167;G/C missense_variant False ZFR@p.E674K 1 0.152173913 ENSG00000056097 chr5:32390397-32390397;C/T missense_variant False ZFR@p.E539K 1 0.664 ENSG00000056097 chr5:32400105-32400105;C/T missense_variant False ZFR2@p.R467C 1 0.363636364 ENSG00000105278 chr19:3822173-3822173;G/A missense_variant False ZFR2@p.G451C 1 0.0546875 ENSG00000105278 chr19:3823266-3823266;C/A missense_variant False ZFYVE16@p.D355N 1 0.252336449 ENSG00000039319 chr5:80437748-80437748;G/A missense_variant False ZFYVE16@p.E1495Q 1 0.095238095 ENSG00000039319 chr5:80477240-80477240;G/C missense_variant False ZFYVE16@p.E291Q 1 0.220779221 ENSG00000039319 chr5:80437556-80437556;G/C missense_variant False ZFYVE16@p.F428L 1 0.125 ENSG00000039319 chr5:80437969-80437969;C/G missense_variant False ZFYVE16@p.F701L 1 0.171875 ENSG00000039319 chr5:80438788-80438788;C/G missense_variant False ZFYVE16@p.L85Sfs*13 1 0.388888889 ENSG00000039319 chr5:80436938-80436938;C/- frameshift_variant False ZFYVE16@p.R52Nfs*12 1 0.714285714 ENSG00000039319 chr5:80436838-80436840;GCG/A frameshift_variant False ZFYVE16@p.S156C 1 0.081081081 ENSG00000039319 chr5:80437152-80437152;C/G missense_variant False ZFYVE16@p.S253Y 1 0.275510204 ENSG00000039319 chr5:80437443-80437443;C/A missense_variant False ZFYVE16@p.S362L 1 0.106382979 ENSG00000039319 chr5:80437770-80437770;C/T missense_variant False ZFYVE16@p.V275F 1 0.26446281 ENSG00000039319 chr5:80437508-80437508;G/T missense_variant False ZFYVE19@p.E426K 1 0.185714286 ENSG00000166140 chr15:40814009-40814009;G/A missense_variant False ZFYVE19@p.M220V 1 0.152777778 ENSG00000166140 chr15:40810157-40810157;A/G missense_variant False ZFYVE19@p.N119Tfs*14 1 0.377777778 ENSG00000166140 chr15:40809191-40809191;G/- frameshift_variant False ZFYVE19@p.S460C 1 0.236363636 ENSG00000166140 chr15:40814189-40814189;C/G missense_variant False ZFYVE1@p.F397L 1 0.446153846 ENSG00000165861 chr14:72993155-72993155;G/C missense_variant False ZFYVE1@p.T369M 1 0.5 ENSG00000165861 chr14:72993240-72993240;G/A missense_variant False ZFR2@p.G30E 1 0.7 ENSG00000105278 chr19:3834948-3834948;C/T missense_variant False ZFPM2@p.R842W 1 0.275862069 ENSG00000169946 chr8:105802606-105802606;C/T missense_variant False ZFP69@p.S378C 1 0.142857143 ENSG00000187815 chr1:40495611-40495611;C/G missense_variant False ZFP82@p.G222S 1 0.190789474 ENSG00000181007 chr19:36393676-36393676;C/T missense_variant False ZFP90@p.E67Q 1 0.473684211 ENSG00000184939 chr16:68558511-68558511;G/C missense_variant False ZFP90@p.E554Q 1 0.282051282 ENSG00000184939 chr16:68564447-68564447;G/C missense_variant False ZFP90@p.E446K 1 0.446280992 ENSG00000184939 chr16:68564123-68564123;G/A missense_variant False ZFP82@p.Y282C 1 0.186147186 ENSG00000181007 chr19:36393495-36393495;T/C missense_variant False ZFP82@p.S57L 1 0.388235294 ENSG00000181007 chr19:36405639-36405639;G/A missense_variant False ZFP82@p.G456D 1 0.583333333 ENSG00000181007 chr19:36392973-36392973;C/T missense_variant False ZFP82@p.F235L 1 0.534722222 ENSG00000181007 chr19:36393635-36393635;G/T missense_variant False ZFPM2@p.R842Q 1 0.5 ENSG00000169946 chr8:105802607-105802607;G/A missense_variant False ZFP82@p.E95K 1 0.123966942 ENSG00000181007 chr19:36394057-36394057;C/T missense_variant False ZFP69B@p.R247T 1 0.475 ENSG00000187801 chr1:40462724-40462724;G/C missense_variant False ZFP69B@p.H479D 1 0.275 ENSG00000187801 chr1:40463419-40463419;C/G missense_variant False ZFP69B@p.F428L 1 0.342857143 ENSG00000187801 chr1:40463268-40463268;C/A missense_variant False ZFP69B@p.D161H 1 0.072727273 ENSG00000187801 chr1:40462465-40462465;G/C missense_variant False ZFP69@p.S508F 1 0.120481928 ENSG00000187815 chr1:40496001-40496001;C/T missense_variant False ZFP90@p.S539L 1 0.433333333 ENSG00000184939 chr16:68564403-68564403;C/T missense_variant False ZFP91@p.D564H 1 0.106382979 ENSG00000186660 chr11:58617683-58617683;G/C missense_variant False ZFP91@p.E255Q 1 0.470588235 ENSG00000186660 chr11:58611644-58611644;G/C missense_variant False ZFP91@p.L492F 1 0.223529412 ENSG00000186660 chr11:58617467-58617467;C/T missense_variant False ZFPL1@p.D152H 1 0.204301075 ENSG00000162300 chr11:65086765-65086765;G/C missense_variant False ZFPL1@p.R257Q 1 0.176923077 ENSG00000162300 chr11:65087951-65087951;G/A missense_variant False ZFPL1@p.S151F 1 0.242424242 ENSG00000162300 chr11:65086763-65086763;C/T missense_variant False ZFPM1@p.E1003K 1 0.181034483 ENSG00000179588 chr16:88534965-88534965;G/A missense_variant False ZFPM1@p.T278I 1 0.459016393 ENSG00000179588 chr16:88532122-88532122;C/T missense_variant False ZFPM2@p.A614D 1 0.142857143 ENSG00000169946 chr8:105801923-105801923;C/A missense_variant False ZFPM2@p.C365Y 1 0.105855856 ENSG00000169946 chr8:105801176-105801176;G/A missense_variant False ZFPM2@p.D203H 1 0.097087379 ENSG00000169946 chr8:105788792-105788792;G/C missense_variant False ZFPM2@p.D506H 1 0.061946903 ENSG00000169946 chr8:105801598-105801598;G/C missense_variant False ZFPM2@p.G371S 1 0.180451128 ENSG00000169946 chr8:105801193-105801193;G/A missense_variant False ZFPM2@p.L415F 1 0.601941748 ENSG00000169946 chr8:105801327-105801327;G/C missense_variant False ZFPM2@p.N958K 1 0.189189189 ENSG00000169946 chr8:105802956-105802956;C/G missense_variant False ZFPM2@p.R1039Q 1 0.222222222 ENSG00000169946 chr8:105803198-105803198;G/A missense_variant False ZFP36@p.E332K 1 0.164835165 ENSG00000128016 chr19:39408694-39408694;G/A missense_variant False ZFP30@p.R178I 1 0.495798319 ENSG00000120784 chr19:37636008-37636008;C/A missense_variant False ZFP30@p.M98I 1 0.173469388 ENSG00000120784 chr19:37636247-37636247;C/G missense_variant False ZFC3H1@p.P16L 1 0.0703125 ENSG00000133858 chr12:71663564-71663564;G/A missense_variant False ZFC3H1@p.T1208R 1 0.311111111 ENSG00000133858 chr12:71630701-71630701;G/C missense_variant False ZFC3H1@p.S958L 1 0.079365079 ENSG00000133858 chr12:71632459-71632459;G/A missense_variant False ZFC3H1@p.S74L 1 0.043243243 ENSG00000133858 chr12:71663390-71663390;G/A missense_variant False ZFC3H1@p.S121W 1 0.290322581 ENSG00000133858 chr12:71663249-71663249;G/C missense_variant False ZFC3H1@p.Q80E 1 0.258333333 ENSG00000133858 chr12:71663373-71663373;G/C missense_variant False ZFC3H1@p.P7A 1 0.501976285 ENSG00000133858 chr12:71663592-71663592;G/C missense_variant False ZFC3H1@p.M1608I 1 0.063043478 ENSG00000133858 chr12:71620236-71620236;C/G missense_variant False ZFAT@p.S1150L 1 0.354285714 ENSG00000066827 chr8:134509662-134509662;G/A missense_variant False ZFC3H1@p.L1538V 1 0.050359712 ENSG00000133858 chr12:71623492-71623492;G/C missense_variant False ZFC3H1@p.K1570N 1 0.344827586 ENSG00000133858 chr12:71623394-71623394;C/G missense_variant False ZFC3H1@p.G323A 1 0.161073826 ENSG00000133858 chr12:71656932-71656932;C/G missense_variant False ZFC3H1@p.F86C 1 0.448087432 ENSG00000133858 chr12:71663354-71663354;A/C missense_variant False ZFC3H1@p.F110L 1 0.172839506 ENSG00000133858 chr12:71663283-71663283;A/G missense_variant False ZFC3H1@p.E607K 1 0.530232558 ENSG00000133858 chr12:71636966-71636966;C/T missense_variant False ZFHX3@p.A905T 1 0.454545455 ENSG00000140836 chr16:72957433-72957433;C/T missense_variant False ZFHX3@p.D1155N 1 0.09929078 ENSG00000140836 chr16:72829845-72829845;C/T missense_variant False ZFHX3@p.E1216K 1 0.118681319 ENSG00000140836 chr16:72811922-72811922;C/T missense_variant False ZFHX3@p.E3440Q 1 0.136 ENSG00000140836 chr16:72787958-72787958;C/G missense_variant False ZFHX3@p.E442K 1 0.124087591 ENSG00000140836 chr16:72958822-72958822;C/T missense_variant False ZFHX3@p.G771V 1 0.336134454 ENSG00000140836 chr16:72957834-72957834;C/A missense_variant False ZFHX3@p.H3503Y 1 0.37037037 ENSG00000140836 chr16:72787769-72787769;G/A missense_variant False ZFHX3@p.H97Y 1 0.222222222 ENSG00000140836 chr16:72959857-72959857;G/A missense_variant False ZFHX3@p.I2189M 1 0.081967213 ENSG00000140836 chr16:72796115-72796115;G/C missense_variant False ZFHX3@p.K3002N 1 0.048780488 ENSG00000140836 chr16:72793676-72793676;C/G missense_variant False ZFHX3@p.L394V 1 0.333333333 ENSG00000140836 chr16:72958966-72958966;G/C missense_variant False ZFHX3@p.N599K 1 0.307692308 ENSG00000140836 chr16:72958349-72958349;A/T missense_variant False ZFHX3@p.P3688H 1 0.25 ENSG00000140836 chr16:72787213-72787213;G/T missense_variant False ZFHX3@p.Q1840E 1 0.447761194 ENSG00000140836 chr16:72797164-72797164;G/C missense_variant False ZFHX3@p.Q1855E 1 0.121621622 ENSG00000140836 chr16:72797119-72797119;G/C missense_variant False ZFHX3@p.S1705L 1 0.141176471 ENSG00000140836 chr16:72797568-72797568;G/A missense_variant False ZFHX3@p.S2590F 1 0.341836735 ENSG00000140836 chr16:72794913-72794913;G/A missense_variant False ZFAT@p.S847L 1 0.704545455 ENSG00000066827 chr8:134590291-134590291;G/A missense_variant False ZFAT@p.R319H 1 0.527777778 ENSG00000066827 chr8:134602763-134602763;C/T missense_variant False ZFHX3@p.S667L 1 0.345454545 ENSG00000140836 chr16:72958146-72958146;G/A missense_variant False ZEB2@p.Q465H 1 0.572580645 ENSG00000169554 chr2:144399792-144399792;C/G missense_variant False ZFAND1@p.E83K 1 0.140350877 ENSG00000104231 chr8:81715006-81715006;C/T missense_variant False ZFAND1@p.D239H 1 0.121212121 ENSG00000104231 chr8:81702787-81702787;C/G missense_variant False ZER1@p.P696A 1 0.121212121 ENSG00000160445 chr9:128735388-128735388;G/C missense_variant False ZER1@p.N464D 1 0.15 ENSG00000160445 chr9:128742715-128742715;T/C missense_variant False ZER1@p.D76E 1 0.285714286 ENSG00000160445 chr9:128753890-128753890;G/C missense_variant False ZEB2@p.Q928K 1 0.217948718 ENSG00000169554 chr2:144398405-144398405;G/T missense_variant False ZEB2@p.K828R 1 0.285714286 ENSG00000169554 chr2:144398704-144398704;T/C missense_variant False ZFAT@p.Q267E 1 0.565217391 ENSG00000066827 chr8:134602920-134602920;G/C missense_variant False ZEB2@p.K828N 1 0.172413793 ENSG00000169554 chr2:144398703-144398703;T/G missense_variant False ZEB2@p.I991M 1 0.37195122 ENSG00000169554 chr2:144396506-144396506;G/C missense_variant False ZEB2@p.G421E 1 0.148760331 ENSG00000169554 chr2:144399925-144399925;C/T missense_variant False ZEB2@p.E995K 1 0.540983607 ENSG00000169554 chr2:144396496-144396496;C/T missense_variant False ZEB2@p.E668Q 1 0.162962963 ENSG00000169554 chr2:144399185-144399185;C/G missense_variant False ZEB2@p.E286Q 1 0.277108434 ENSG00000169554 chr2:144401259-144401259;C/G missense_variant False ZFAND1@p.V75M 1 0.384 ENSG00000104231 chr8:81715030-81715030;C/T missense_variant False ZFAND2A@p.H36N 1 0.081632653 ENSG00000178381 chr7:1157700-1157700;G/T missense_variant False ZFAND2B@p.C28Y 1 0.455555556 ENSG00000158552 chr2:219207354-219207354;G/A missense_variant False ZFAND2B@p.V64L 1 0.5 ENSG00000158552 chr2:219207687-219207687;G/C missense_variant False ZFAND3@p.E138K 1 0.164179104 ENSG00000156639 chr6:38116622-38116622;G/A missense_variant False ZFAND4@p.H648Y 1 0.101265823 ENSG00000172671 chr10:45618246-45618246;G/A missense_variant False ZFAND4@p.I727M 1 0.122807018 ENSG00000172671 chr10:45616439-45616439;G/C missense_variant False ZFAND4@p.S521F 1 0.066666667 ENSG00000172671 chr10:45626261-45626261;G/A missense_variant False ZFAND4@p.S557F 1 0.546666667 ENSG00000172671 chr10:45626153-45626153;G/A missense_variant False ZFAND5@p.K159N 1 0.106382979 ENSG00000107372 chr9:72356947-72356947;C/A missense_variant False ZFAND5@p.R179P 1 0.316455696 ENSG00000107372 chr9:72356059-72356059;C/G missense_variant False ZFAND6@p.D188N 1 0.476190476 ENSG00000086666 chr15:80137563-80137563;G/A missense_variant False ZFAND6@p.D68N 1 0.172413793 ENSG00000086666 chr15:80121759-80121759;G/A missense_variant False ZFAND6@p.E133K 1 0.133333333 ENSG00000086666 chr15:80131212-80131212;G/A missense_variant False ZFAND6@p.S84F 1 0.233333333 ENSG00000086666 chr15:80121808-80121808;C/T missense_variant False ZFAT@p.E296K 1 0.134146341 ENSG00000066827 chr8:134602833-134602833;C/T missense_variant False ZFAT@p.Q182R 1 0.376146789 ENSG00000066827 chr8:134610559-134610559;T/C missense_variant False ZFHX3@p.S431L 1 0.281690141 ENSG00000140836 chr16:72958854-72958854;G/A missense_variant False ZFHX3@p.T1657S 1 0.063492063 ENSG00000140836 chr16:72797712-72797712;G/C missense_variant False ZFP30@p.L343F 1 0.1625 ENSG00000120784 chr19:37635514-37635514;G/A missense_variant False ZFHX4@p.S2778F 1 0.428571429 ENSG00000091656 chr8:76855254-76855254;C/T missense_variant False ZFP14@p.E421K 1 0.201298701 ENSG00000142065 chr19:36340565-36340565;C/T missense_variant False ZFHX4@p.Y2727H 1 0.240740741 ENSG00000091656 chr8:76855100-76855100;T/C missense_variant False ZFHX4@p.W2652L 1 0.154320988 ENSG00000091656 chr8:76854876-76854876;G/T missense_variant False ZFHX4@p.W1360L 1 0.170731707 ENSG00000091656 chr8:76851000-76851000;G/T missense_variant False ZFHX4@p.S526L 1 0.409090909 ENSG00000091656 chr8:76705665-76705665;C/T missense_variant False ZFHX4@p.S3556L 1 0.525252525 ENSG00000091656 chr8:76864381-76864381;C/T missense_variant False ZFHX4@p.S2696C 1 0.15625 ENSG00000091656 chr8:76855008-76855008;C/G missense_variant False ZFHX4@p.Q2884K 1 0.318181818 ENSG00000091656 chr8:76855571-76855571;C/A missense_variant False ZFHX4@p.S1759F 1 0.5625 ENSG00000091656 chr8:76852197-76852197;C/T missense_variant False ZFHX4@p.S1680C 1 0.629213483 ENSG00000091656 chr8:76851960-76851960;C/G missense_variant False ZFHX4@p.R780S 1 0.064516129 ENSG00000091656 chr8:76706428-76706428;G/C missense_variant False ZFHX4@p.R1539H 1 0.509433962 ENSG00000091656 chr8:76851537-76851537;G/A missense_variant False ZFHX4@p.R1435H 1 0.260869565 ENSG00000091656 chr8:76851225-76851225;G/A missense_variant False ZFHX4@p.R1231G 1 0.216666667 ENSG00000091656 chr8:76849557-76849557;C/G missense_variant False ZFP14@p.F15L 1 0.151515152 ENSG00000142065 chr19:36362203-36362203;G/C missense_variant False ZFP14@p.F181C 1 0.301204819 ENSG00000142065 chr19:36341284-36341284;A/C missense_variant False ZFP14@p.K63N 1 0.177419355 ENSG00000142065 chr19:36360481-36360481;C/A missense_variant False ZFP14@p.R385C 1 0.466666667 ENSG00000142065 chr19:36340673-36340673;G/A missense_variant False ZFP28@p.H364D 1 0.371428571 ENSG00000196867 chr19:56553875-56553875;C/G missense_variant False ZFP28@p.L139V 1 0.140350877 ENSG00000196867 chr19:56547622-56547622;C/G missense_variant False ZFP28@p.R129K 1 0.168831169 ENSG00000196867 chr19:56547593-56547593;G/A missense_variant False ZFP28@p.S780C 1 0.256756757 ENSG00000196867 chr19:56555124-56555124;C/G missense_variant False ZFP28@p.S844C 1 0.113122172 ENSG00000196867 chr19:56555316-56555316;C/G missense_variant False ZFP2@p.G80A 1 0.272727273 ENSG00000198939 chr5:178931552-178931552;G/C missense_variant False ZFP2@p.H456N 1 0.114754098 ENSG00000198939 chr5:178932679-178932679;C/A missense_variant False ZFP2@p.I375F 1 0.101694915 ENSG00000198939 chr5:178932436-178932436;A/T missense_variant False ZFP2@p.N18D 1 0.494505495 ENSG00000198939 chr5:178931365-178931365;A/G missense_variant False ZFP2@p.Y396F 1 0.425531915 ENSG00000198939 chr5:178932500-178932500;A/T missense_variant False ZFP30@p.E243K 1 0.2625 ENSG00000120784 chr19:37635814-37635814;C/T missense_variant False ZFP30@p.E396K 1 0.415384615 ENSG00000120784 chr19:37635355-37635355;C/T missense_variant False ZFP30@p.G406E 1 0.163934426 ENSG00000120784 chr19:37635324-37635324;C/T missense_variant False ZFHX4@p.R1022K 1 0.407407407 ENSG00000091656 chr8:76708020-76708020;G/A missense_variant False ZFHX4@p.Q1695E 1 0.166666667 ENSG00000091656 chr8:76852004-76852004;C/G missense_variant False ZFHX3@p.V1957G 1 0.461538462 ENSG00000140836 chr16:72796812-72796812;A/C missense_variant False ZFHX4@p.E1488Q 1 0.412698413 ENSG00000091656 chr8:76851383-76851383;G/C missense_variant False ZFHX4@p.E660K 1 0.347826087 ENSG00000091656 chr8:76706066-76706066;G/A missense_variant False ZFHX4@p.E442D 1 0.365853659 ENSG00000091656 chr8:76705414-76705414;G/T missense_variant False ZFHX4@p.E370Q 1 0.152941176 ENSG00000091656 chr8:76705196-76705196;G/C missense_variant False ZFHX4@p.E3294K 1 0.264705882 ENSG00000091656 chr8:76863594-76863594;G/A missense_variant False ZFHX4@p.E2776K 1 0.27027027 ENSG00000091656 chr8:76855247-76855247;G/A missense_variant False ZFHX4@p.E1627D 1 0.461538462 ENSG00000091656 chr8:76851802-76851802;G/T missense_variant False ZFHX4@p.E115K 1 0.191176471 ENSG00000091656 chr8:76704431-76704431;G/A missense_variant False ZFHX4@p.Q1682E 1 0.186440678 ENSG00000091656 chr8:76851965-76851965;C/G missense_variant False ZFHX4@p.D3603H 1 0.307692308 ENSG00000091656 chr8:76864521-76864521;G/C missense_variant False ZFHX4@p.D2906E 1 0.214285714 ENSG00000091656 chr8:76855639-76855639;C/A missense_variant False ZFHX4@p.D2799N 1 0.377777778 ENSG00000091656 chr8:76855316-76855316;G/A missense_variant False ZFHX4@p.D2731V 1 0.096774194 ENSG00000091656 chr8:76855113-76855113;A/T missense_variant False ZFHX4@p.A779D 1 0.333333333 ENSG00000091656 chr8:76706424-76706424;C/A missense_variant False ZFHX4@p.A2667V 1 0.362831858 ENSG00000091656 chr8:76854921-76854921;C/T missense_variant False ZFHX4@p.F3606L 1 0.416666667 ENSG00000091656 chr8:76864532-76864532;C/G missense_variant False ZFHX4@p.G2167C 1 0.512820513 ENSG00000091656 chr8:76853420-76853420;G/T missense_variant False ZFHX4@p.G2599S 1 0.288888889 ENSG00000091656 chr8:76854716-76854716;G/A missense_variant False ZFHX4@p.G2816R 1 0.575757576 ENSG00000091656 chr8:76855367-76855367;G/A missense_variant False ZFHX4@p.H2693Y 1 0.153846154 ENSG00000091656 chr8:76854998-76854998;C/T missense_variant False ZFHX4@p.H3486Y 1 0.14893617 ENSG00000091656 chr8:76864170-76864170;C/T missense_variant False ZFHX4@p.I3529N 1 0.342105263 ENSG00000091656 chr8:76864300-76864300;T/A missense_variant False ZFHX4@p.K1362T 1 0.358974359 ENSG00000091656 chr8:76851006-76851006;A/C missense_variant False ZFHX4@p.K2362Q 1 0.184210526 ENSG00000091656 chr8:76854005-76854005;A/C missense_variant False ZFHX4@p.L1060F 1 0.209302326 ENSG00000091656 chr8:76778294-76778294;G/C missense_variant False ZFHX4@p.L2865I 1 0.509090909 ENSG00000091656 chr8:76855514-76855514;C/A missense_variant False ZFHX4@p.L411Cfs*4 1 0.275362319 ENSG00000091656 chr8:76705312-76705312;G/- frameshift_variant False ZFHX4@p.M795I 1 0.318181818 ENSG00000091656 chr8:76706473-76706473;G/A missense_variant False ZFHX4@p.N1009K 1 0.165354331 ENSG00000091656 chr8:76707982-76707982;C/G missense_variant False ZFHX4@p.P2849R 1 0.205128205 ENSG00000091656 chr8:76855467-76855467;C/G missense_variant False ZFHX4@p.P670L 1 0.130434783 ENSG00000091656 chr8:76706097-76706097;C/T missense_variant False ZFHX4@p.Q1073H 1 0.122905028 ENSG00000091656 chr8:76778333-76778333;G/C missense_variant False TNR@p.R372W 1 0.224489796 ENSG00000116147 chr1:175396670-175396670;G/A missense_variant False TNR@p.R1082H 1 0.342342342 ENSG00000116147 chr1:175355507-175355507;C/T missense_variant False SCTR@p.E133D 1 0.282608696 ENSG00000080293 chr2:119473459-119473459;C/G missense_variant False SMAD6@p.D398N 1 0.122807018 ENSG00000137834 chr15:66781236-66781236;G/A missense_variant False SMAD9@p.L453V 1 0.33974359 ENSG00000120693 chr13:36848723-36848723;G/C missense_variant False SMAD7@p.S182C 1 0.081967213 ENSG00000101665 chr18:48949880-48949880;G/C missense_variant False SMAD7@p.R314Q 1 0.25 ENSG00000101665 chr18:48921712-48921712;C/T missense_variant False SMAD7@p.E254Q 1 0.892857143 ENSG00000101665 chr18:48921893-48921893;C/G missense_variant False SMAD6@p.W337L 1 0.473684211 ENSG00000137834 chr15:66781054-66781054;G/T missense_variant False SMAD6@p.R465L 1 0.142857143 ENSG00000137834 chr15:66781438-66781438;G/T missense_variant False SMAD4@p.Y412D 1 0.27027027 ENSG00000141646 chr18:51067113-51067113;T/G missense_variant True SMAP1@p.G375R 1 0.389830508 ENSG00000112305 chr6:70858083-70858083;G/A missense_variant False SMAD4@p.Y133N 1 0.275862069 ENSG00000141646 chr18:51048833-51048833;T/A missense_variant True SMAD4@p.S485L 1 0.088888889 ENSG00000141646 chr18:51078262-51078262;C/T missense_variant True SMAD4@p.H427R 1 0.117647059 ENSG00000141646 chr18:51067159-51067159;A/G missense_variant True SMAD4@p.E337K 1 0.265957447 ENSG00000141646 chr18:51065476-51065476;G/A missense_variant True SMAD4@p.E167Q 1 0.302631579 ENSG00000141646 chr18:51054825-51054825;G/C missense_variant True SMAD4@p.D424N 1 0.725 ENSG00000141646 chr18:51067149-51067149;G/A missense_variant True SMAD9@p.R360Q 1 0.225806452 ENSG00000120693 chr13:36853600-36853600;C/T missense_variant False SMAP1@p.M89I 1 0.137254902 ENSG00000112305 chr6:70754994-70754994;G/T missense_variant False SLX4@p.E230K 1 0.227027027 ENSG00000188827 chr16:3606546-3606546;C/T missense_variant False SMARCA2@p.E791K 1 0.711538462 ENSG00000080503 chr9:2083369-2083369;G/A missense_variant False SMARCA2@p.M99V 1 0.507853403 ENSG00000080503 chr9:2033021-2033021;A/G missense_variant False SMARCA2@p.L938I 1 0.097087379 ENSG00000080503 chr9:2088542-2088542;C/A missense_variant False SMARCA2@p.L895V 1 0.866666667 ENSG00000080503 chr9:2086985-2086985;C/G missense_variant False SMARCA2@p.G1202S 1 0.304347826 ENSG00000080503 chr9:2115969-2115969;G/A missense_variant False SMARCA2@p.F823L 1 0.25 ENSG00000080503 chr9:2084139-2084139;C/G missense_variant False SMARCA2@p.F1122L 1 0.435294118 ENSG00000080503 chr9:2110327-2110327;C/G missense_variant False SMARCA2@p.D1056H 1 0.284671533 ENSG00000080503 chr9:2104043-2104043;G/C missense_variant False SMAP1@p.S279F 1 0.065420561 ENSG00000112305 chr6:70856905-70856905;C/T missense_variant False SMARCA2@p.A1138V 1 0.257142857 ENSG00000080503 chr9:2110374-2110374;C/T missense_variant False SMARCA1@p.S679C 1 0.1 ENSG00000102038 chrX:129488998-129488998;G/C missense_variant False SMARCA1@p.Q918E 1 0.217948718 ENSG00000102038 chrX:129465909-129465909;G/C missense_variant False SMARCA1@p.N1027Kfs*5 1 0.717391304 ENSG00000102038 chrX:129448393-129448394;-/T frameshift_variant False SMARCA1@p.F570L 1 0.301980198 ENSG00000102038 chrX:129492046-129492046;A/T missense_variant False SMAP2@p.I130M 1 0.367346939 ENSG00000084070 chr1:40409823-40409823;C/G missense_variant False SMAD4@p.C363S 1 0.366666667 ENSG00000141646 chr18:51065555-51065555;G/C missense_variant True SMAD3@p.V244I 1 0.151515152 ENSG00000166949 chr15:67181312-67181312;G/A missense_variant False SMAD3@p.R93Q 1 0.378947368 ENSG00000166949 chr15:67164966-67164966;G/A missense_variant False SLX4@p.Q1768E 1 0.29787234 ENSG00000188827 chr16:3582545-3582545;G/C missense_variant False SLX4IP@p.D18Y 1 0.138888889 ENSG00000149346 chr20:10556255-10556255;G/T missense_variant False SLX4IP@p.D134H 1 0.125 ENSG00000149346 chr20:10601814-10601814;G/C missense_variant False SLX4@p.S1143F 1 0.730337079 ENSG00000188827 chr16:3590210-3590210;G/A missense_variant False SLX4@p.S1044I 1 0.127659574 ENSG00000188827 chr16:3590507-3590507;C/A missense_variant False SLX4@p.R913T 1 0.076923077 ENSG00000188827 chr16:3590900-3590900;C/G missense_variant False SLX4@p.R1021C 1 0.103448276 ENSG00000188827 chr16:3590577-3590577;G/A missense_variant False SLX4@p.Q1201E 1 0.160714286 ENSG00000188827 chr16:3590037-3590037;G/C missense_variant False SMAD3@p.Q365K 1 0.628865979 ENSG00000166949 chr15:67187448-67187448;C/A missense_variant False SLX4@p.P1235S 1 0.326530612 ENSG00000188827 chr16:3589935-3589935;G/A missense_variant False SLX4@p.L734V 1 0.11627907 ENSG00000188827 chr16:3592826-3592826;G/C missense_variant False SLX4@p.H1672R 1 0.487394958 ENSG00000188827 chr16:3583235-3583235;T/C missense_variant False SLX4@p.G937E 1 0.255319149 ENSG00000188827 chr16:3590828-3590828;C/T missense_variant False SLX4@p.E950Q 1 0.2 ENSG00000188827 chr16:3590790-3590790;C/G missense_variant False SLX4@p.E817K 1 0.260504202 ENSG00000188827 chr16:3591189-3591189;C/T missense_variant False SLX4IP@p.D207N 1 0.568181818 ENSG00000149346 chr20:10622771-10622771;G/A missense_variant False SLX4IP@p.D50H 1 0.206896552 ENSG00000149346 chr20:10560730-10560730;G/C missense_variant False SLX4IP@p.E137Q 1 0.113636364 ENSG00000149346 chr20:10621317-10621317;G/C missense_variant False SLX4IP@p.E152D 1 0.253731343 ENSG00000149346 chr20:10621364-10621364;G/C missense_variant False SLX4IP@p.L140F 1 0.5 ENSG00000149346 chr20:10621326-10621326;C/T missense_variant False SLX4IP@p.L45del 1 0.176470588 ENSG00000149346 chr20:10560713-10560715;TGT/- inframe_deletion False SLX4IP@p.R288Q 1 0.338028169 ENSG00000149346 chr20:10623015-10623015;G/A missense_variant False SMAD1@p.D297N 1 0.204724409 ENSG00000170365 chr4:145546816-145546816;G/A missense_variant False SMAD1@p.D35N 1 0.730769231 ENSG00000170365 chr4:145514716-145514716;G/A missense_variant False SMAD1@p.M414I 1 0.087378641 ENSG00000170365 chr4:145554028-145554028;G/C missense_variant False SMAD2@p.K451E 1 0.166666667 ENSG00000175387 chr18:47841880-47841880;T/C missense_variant True SMAD2@p.L446V 1 0.212121212 ENSG00000175387 chr18:47841895-47841895;G/C missense_variant True SMAD2@p.Q364P 1 0.43877551 ENSG00000175387 chr18:47845707-47845707;T/G missense_variant True SMAD3@p.E149K 1 0.157894737 ENSG00000166949 chr15:67165297-67165297;G/A missense_variant False SMAD3@p.F304L 1 0.24137931 ENSG00000166949 chr15:67184767-67184767;C/A missense_variant False SMAD3@p.M115I 1 0.133333333 ENSG00000166949 chr15:67165033-67165033;G/A missense_variant False SMAD3@p.M255I 1 0.258064516 ENSG00000166949 chr15:67181347-67181347;G/A missense_variant False SMARCA2@p.P1150S 1 0.689655172 ENSG00000080503 chr9:2110409-2110409;C/T missense_variant False SMARCA2@p.Q1165P 1 0.555555556 ENSG00000080503 chr9:2115859-2115859;A/C missense_variant False SMARCA2@p.Q699E 1 0.4 ENSG00000080503 chr9:2077687-2077687;C/G missense_variant False SMARCAL1@p.R611C 1 0.137681159 ENSG00000138375 chr2:216447138-216447138;C/T missense_variant False SMARCC1@p.D851N 1 0.65 ENSG00000173473 chr3:47635285-47635285;C/T missense_variant False SMARCC1@p.D284N 1 0.279069767 ENSG00000173473 chr3:47710751-47710751;C/T missense_variant False SMARCB1@p.R324S 1 0.296875 ENSG00000099956 chr22:23833695-23833695;G/T missense_variant True SMARCB1@p.K8N 1 0.211538462 ENSG00000099956 chr22:23787193-23787193;G/C missense_variant True SMARCB1@p.F25L 1 0.5 ENSG00000099956 chr22:23787244-23787244;C/A missense_variant True SMARCB1@p.D213N 1 0.203389831 ENSG00000099956 chr22:23816916-23816916;G/A missense_variant True SMARCAL1@p.R499W 1 0.081081081 ENSG00000138375 chr2:216435347-216435347;C/T missense_variant False SMARCAD1@p.D361H 1 0.585365854 ENSG00000163104 chr4:94252807-94252807;G/C missense_variant False SMARCAL1@p.P502L 1 0.179487179 ENSG00000138375 chr2:216435357-216435357;C/T missense_variant False SMARCAL1@p.L139F 1 0.321428571 ENSG00000138375 chr2:216415121-216415121;G/C missense_variant False SMARCAL1@p.H179Y 1 0.1 ENSG00000138375 chr2:216415239-216415239;C/T missense_variant False SMARCAD1@p.R419W 1 0.042253521 ENSG00000163104 chr4:94252981-94252981;C/T missense_variant False SMARCAD1@p.Q501E 1 0.333333333 ENSG00000163104 chr4:94270747-94270747;C/G missense_variant False SMARCAD1@p.E463K 1 0.253731343 ENSG00000163104 chr4:94264812-94264812;G/A missense_variant False SMARCC1@p.E254K 1 0.317647059 ENSG00000173473 chr3:47714447-47714447;C/T missense_variant False SMARCC1@p.E672K 1 0.237288136 ENSG00000173473 chr3:47662478-47662478;C/T missense_variant False SMARCC1@p.E727K 1 0.164835165 ENSG00000173473 chr3:47661435-47661435;C/T missense_variant False SMARCC1@p.K905N 1 0.175 ENSG00000173473 chr3:47622273-47622273;C/G missense_variant False SMARCC1@p.L601V 1 0.310344828 ENSG00000173473 chr3:47675513-47675513;G/C missense_variant False SMARCC1@p.M696V 1 0.21875 ENSG00000173473 chr3:47662406-47662406;T/C missense_variant False SMARCC1@p.W642C 1 0.24137931 ENSG00000173473 chr3:47662566-47662566;C/A missense_variant False SMARCC2@p.E386K 1 0.419354839 ENSG00000139613 chr12:56178833-56178833;C/T missense_variant False SMARCC2@p.E395Q 1 0.627586207 ENSG00000139613 chr12:56178531-56178531;C/G missense_variant False SMARCC2@p.E42K 1 0.337209302 ENSG00000139613 chr12:56187294-56187294;C/T missense_variant False SMARCC2@p.E645Q 1 0.289855072 ENSG00000139613 chr12:56171838-56171838;C/G missense_variant False SMARCC2@p.E768D 1 0.292682927 ENSG00000139613 chr12:56170159-56170159;C/G missense_variant False SMARCC2@p.G628E 1 0.469387755 ENSG00000139613 chr12:56171888-56171888;C/T missense_variant False SMARCC2@p.H530D 1 0.221153846 ENSG00000139613 chr12:56173758-56173758;G/C missense_variant False SMARCC2@p.K795T 1 0.484126984 ENSG00000139613 chr12:56169847-56169847;T/G missense_variant False SMARCC2@p.P526A 1 0.475524476 ENSG00000139613 chr12:56173770-56173770;G/C missense_variant False SMARCC2@p.Q960dup 1 0.337662338 ENSG00000139613 chr12:56165575-56165576;-/GCT inframe_insertion False SMARCAD1@p.E112Q 1 0.042682927 ENSG00000163104 chr4:94226262-94226262;G/C missense_variant False SMARCAD1@p.C445Y 1 0.221153846 ENSG00000163104 chr4:94264759-94264759;G/A missense_variant False SMARCA2@p.R1047W 1 0.54893617 ENSG00000080503 chr9:2104016-2104016;C/T missense_variant False SMARCA2@p.V340L 1 0.357142857 ENSG00000080503 chr9:2047456-2047456;G/T missense_variant False SMARCA4@p.E1393K 1 0.5 ENSG00000127616 chr19:11041313-11041313;G/A missense_variant True SMARCA4@p.E1083K 1 0.489051095 ENSG00000127616 chr19:11027815-11027815;G/A missense_variant True SMARCA4@p.D1284N 1 0.178571429 ENSG00000127616 chr19:11033842-11033842;G/A missense_variant True SMARCA4@p.A393Ifs*16 1 0.9 ENSG00000127616 chr19:10989374-10989380;GGCCGGG/- frameshift_variant True SMARCA4@p.A1186T 1 0.206896552 ENSG00000127616 chr19:11033299-11033299;G/A missense_variant True SMARCA2@p.Y465C 1 0.431578947 ENSG00000080503 chr9:2058337-2058337;A/G missense_variant False SMARCA2@p.V1169F 1 0.904761905 ENSG00000080503 chr9:2115870-2115870;G/T missense_variant False SMARCA5@p.V638L 1 0.325581395 ENSG00000153147 chr4:143543517-143543517;G/C missense_variant False SMARCA2@p.S367F 1 0.18018018 ENSG00000080503 chr9:2054650-2054650;C/T missense_variant False SMARCA2@p.R560S 1 0.481481481 ENSG00000080503 chr9:2060974-2060974;G/T missense_variant False SMARCA2@p.R1246Q 1 0.326923077 ENSG00000080503 chr9:2119510-2119510;G/A missense_variant False SMARCA2@p.R1162S 1 0.333333333 ENSG00000080503 chr9:2115849-2115849;C/A missense_variant False SMARCA2@p.R1162H 1 0.411764706 ENSG00000080503 chr9:2115850-2115850;G/A missense_variant False SMARCA2@p.R1162C 1 0.32 ENSG00000080503 chr9:2115849-2115849;C/T missense_variant False SMARCA4@p.E1436D 1 0.648648649 ENSG00000127616 chr19:11041444-11041444;G/C missense_variant True SMARCA4@p.E882D 1 0.2 ENSG00000127616 chr19:11021754-11021754;A/T missense_variant True SMARCA4@p.G1030C 1 0.425925926 ENSG00000127616 chr19:11025428-11025428;G/T missense_variant True SMARCA4@p.G33D 1 0.178571429 ENSG00000127616 chr19:10984249-10984249;G/A missense_variant True SMARCA4@p.G911D 1 0.536585366 ENSG00000127616 chr19:11021840-11021840;G/A missense_variant True SMARCA4@p.K1033N 1 0.210227273 ENSG00000127616 chr19:11025439-11025439;G/C missense_variant True SMARCA4@p.K1408N 1 0.071428571 ENSG00000127616 chr19:11041360-11041360;A/T missense_variant True SMARCA4@p.R1135W 1 0.135135135 ENSG00000127616 chr19:11030750-11030750;C/T missense_variant True SMARCA4@p.R1192C 1 0.151515152 ENSG00000127616 chr19:11033317-11033317;C/T missense_variant True SMARCA4@p.R13W 1 0.181818182 ENSG00000127616 chr19:10984188-10984188;C/T missense_variant True SMARCA4@p.R741K 1 0.299145299 ENSG00000127616 chr19:11010479-11010479;G/A missense_variant True SMARCA4@p.S141L 1 0.267857143 ENSG00000127616 chr19:10986255-10986255;C/T missense_variant True SMARCA4@p.T786N 1 0.4 ENSG00000127616 chr19:11013031-11013031;C/A missense_variant True SMARCA4@p.T910M 1 0.166666667 ENSG00000127616 chr19:11021837-11021837;C/T missense_variant True SMARCA5@p.D971N 1 0.237288136 ENSG00000153147 chr4:143548066-143548066;G/A missense_variant False SMARCA5@p.E967Q 1 0.275510204 ENSG00000153147 chr4:143548054-143548054;G/C missense_variant False SMARCA5@p.I937L 1 0.215384615 ENSG00000153147 chr4:143547964-143547964;A/C missense_variant False SLX4@p.E730Q 1 0.107142857 ENSG00000188827 chr16:3592838-3592838;C/G missense_variant False SLX4@p.E222K 1 0.112107623 ENSG00000188827 chr16:3606570-3606570;C/T missense_variant False SLC39A12@p.N290K 1 0.17699115 ENSG00000148482 chr10:17978020-17978020;T/G missense_variant False SLIT2@p.L635H 1 0.317073171 ENSG00000145147 chr4:20539512-20539512;T/A missense_variant False SLIT3@p.D1032N 1 0.285714286 ENSG00000184347 chr5:168692689-168692689;C/T missense_variant False SLIT2@p.R561C 1 0.186046512 ENSG00000145147 chr4:20532051-20532051;C/T missense_variant False SLIT2@p.R1500W 1 0.422764228 ENSG00000145147 chr4:20618917-20618917;C/T missense_variant False SLIT2@p.P965L 1 0.369565217 ENSG00000145147 chr4:20567561-20567561;C/T missense_variant False SLIT2@p.P749R 1 0.170854271 ENSG00000145147 chr4:20542596-20542596;C/G missense_variant False SLIT2@p.P507S 1 0.428571429 ENSG00000145147 chr4:20529005-20529005;C/T missense_variant False SLIT2@p.K1155R 1 0.292134831 ENSG00000145147 chr4:20596558-20596558;A/G missense_variant False SLIT3@p.E1509Q 1 0.428571429 ENSG00000184347 chr5:168666501-168666501;C/G missense_variant False SLIT2@p.I816N 1 0.464285714 ENSG00000145147 chr4:20549086-20549086;T/A missense_variant False SLIT2@p.E842K 1 0.181818182 ENSG00000145147 chr4:20550861-20550861;G/A missense_variant False SLIT2@p.E1505K 1 0.534883721 ENSG00000145147 chr4:20618932-20618932;G/A missense_variant False SLIT2@p.E1104K 1 0.132075472 ENSG00000145147 chr4:20595824-20595824;G/A missense_variant False SLIT2@p.D1448H 1 0.235294118 ENSG00000145147 chr4:20617644-20617644;G/C missense_variant False SLIT2@p.D1079N 1 0.097902098 ENSG00000145147 chr4:20595749-20595749;G/A missense_variant False SLIT3@p.E1395K 1 0.842105263 ENSG00000184347 chr5:168669936-168669936;C/T missense_variant False SLIT3@p.E733Q 1 0.217741935 ENSG00000184347 chr5:168748375-168748375;C/G missense_variant False SLX4@p.E1303K 1 0.355263158 ENSG00000188827 chr16:3589731-3589731;C/T missense_variant False SLITRK1@p.D525H 1 0.246153846 ENSG00000178235 chr13:83879935-83879935;C/G missense_variant False SLITRK2@p.G207V 1 0.781818182 ENSG00000185985 chrX:145823045-145823045;G/T missense_variant False SLITRK2@p.A576V 1 0.875 ENSG00000185985 chrX:145824152-145824152;C/T missense_variant False SLITRK1@p.R566K 1 0.153846154 ENSG00000178235 chr13:83879811-83879811;C/T missense_variant False SLITRK1@p.R391Q 1 0.215469613 ENSG00000178235 chr13:83880336-83880336;C/T missense_variant False SLITRK1@p.L438V 1 0.319587629 ENSG00000178235 chr13:83880196-83880196;G/C missense_variant False SLITRK1@p.H181Y 1 0.366459627 ENSG00000178235 chr13:83880967-83880967;G/A missense_variant False SLITRK1@p.A492T 1 0.483333333 ENSG00000178235 chr13:83880034-83880034;C/T missense_variant False SLIT3@p.G1380A 1 0.355555556 ENSG00000184347 chr5:168669980-168669980;C/G missense_variant False SLIT3@p.T595N 1 0.36 ENSG00000184347 chr5:168753909-168753909;G/T missense_variant False SLIT3@p.R737Q 1 0.368932039 ENSG00000184347 chr5:168748362-168748362;C/T missense_variant False SLIT3@p.Q1248H 1 0.302083333 ENSG00000184347 chr5:168673274-168673274;C/G missense_variant False SLIT3@p.L655M 1 0.162790698 ENSG00000184347 chr5:168752965-168752965;G/T missense_variant False SLIT3@p.K554N 1 0.361111111 ENSG00000184347 chr5:168760885-168760885;C/G missense_variant False SLIT3@p.G1398A 1 0.457142857 ENSG00000184347 chr5:168669926-168669926;C/G missense_variant False SLIT2@p.C721W 1 0.343065693 ENSG00000145147 chr4:20542513-20542513;C/G missense_variant False SLIT1@p.R1300H 1 0.444444444 ENSG00000187122 chr10:97002959-97002959;C/T missense_variant False SLIT1@p.Q706H 1 0.322580645 ENSG00000187122 chr10:97042947-97042947;C/G missense_variant False SLFN13@p.E74Q 1 0.226027397 ENSG00000154760 chr17:35445461-35445461;C/G missense_variant False SLFN5@p.E327Q 1 0.191082803 ENSG00000166750 chr17:35259669-35259669;G/C missense_variant False SLFN5@p.D763Y 1 0.438095238 ENSG00000166750 chr17:35265499-35265499;G/T missense_variant False SLFN5@p.D177H 1 0.104166667 ENSG00000166750 chr17:35259219-35259219;G/C missense_variant False SLFN13@p.V666F 1 0.181818182 ENSG00000154760 chr17:35441293-35441293;C/A missense_variant False SLFN13@p.M501I 1 0.130952381 ENSG00000154760 chr17:35441982-35441982;C/A missense_variant False SLFN13@p.K110E 1 0.27027027 ENSG00000154760 chr17:35445353-35445353;T/C missense_variant False SLFN13@p.D352V 1 0.419354839 ENSG00000154760 chr17:35444626-35444626;T/A missense_variant False SLIT1@p.Q1137H 1 0.171428571 ENSG00000187122 chr10:97006651-97006651;C/G missense_variant False SLFN12@p.I218M 1 0.209150327 ENSG00000172123 chr17:35422375-35422375;A/C missense_variant False SLFN11@p.V235I 1 0.146496815 ENSG00000172716 chr17:35363105-35363105;C/T missense_variant False SLFN11@p.T138S 1 0.122222222 ENSG00000172716 chr17:35363395-35363395;G/C missense_variant False SLFN11@p.R39K 1 0.286885246 ENSG00000172716 chr17:35363692-35363692;C/T missense_variant False SLFN11@p.K685R 1 0.330708661 ENSG00000172716 chr17:35353008-35353008;T/C missense_variant False SLFN11@p.H621Y 1 0.3875 ENSG00000172716 chr17:35353397-35353397;G/A missense_variant False SLFN5@p.G486A 1 0.101265823 ENSG00000166750 chr17:35264501-35264501;G/C missense_variant False SLFN5@p.H883Y 1 0.347222222 ENSG00000166750 chr17:35265859-35265859;C/T missense_variant False SLFN5@p.Q270H 1 0.212290503 ENSG00000166750 chr17:35259500-35259500;G/C missense_variant False SLFN5@p.Q39H 1 0.688888889 ENSG00000166750 chr17:35258807-35258807;G/C missense_variant False SLFN5@p.Q687H 1 0.279069767 ENSG00000166750 chr17:35265273-35265273;G/T missense_variant False SLFN5@p.S509L 1 0.314285714 ENSG00000166750 chr17:35264570-35264570;C/T missense_variant False SLFN5@p.S565L 1 0.275229358 ENSG00000166750 chr17:35264738-35264738;C/T missense_variant False SLFNL1@p.E18K 1 0.506578947 ENSG00000171790 chr1:41020609-41020609;C/T missense_variant False SLFNL1@p.M380I 1 0.083333333 ENSG00000171790 chr1:41016190-41016190;C/T missense_variant False SLFNL1@p.V400L 1 0.203883495 ENSG00000171790 chr1:41016132-41016132;C/G missense_variant False SLIRP@p.R7T 1 0.169491525 ENSG00000119705 chr14:77708131-77708131;G/C missense_variant False SLIT1@p.A1213T 1 0.714285714 ENSG00000187122 chr10:97004766-97004766;C/T missense_variant False SLIT1@p.E551Q 1 0.279411765 ENSG00000187122 chr10:97047049-97047049;C/G missense_variant False SLIT1@p.G683V 1 0.222222222 ENSG00000187122 chr10:97043017-97043017;C/A missense_variant False SLIT1@p.H873Y 1 0.28 ENSG00000187122 chr10:97021379-97021379;G/A missense_variant False SLIT1@p.L180V 1 0.208053691 ENSG00000187122 chr10:97064824-97064824;G/C missense_variant False SLIT1@p.N794H 1 0.436619718 ENSG00000187122 chr10:97034529-97034529;T/G missense_variant False SLITRK2@p.I459F 1 0.840909091 ENSG00000185985 chrX:145823800-145823800;A/T missense_variant False SLITRK2@p.L452I 1 0.433962264 ENSG00000185985 chrX:145823779-145823779;C/A missense_variant False SLITRK2@p.V802I 1 0.808917197 ENSG00000185985 chrX:145824829-145824829;G/A missense_variant False SLK@p.T1095I 1 0.18556701 ENSG00000065613 chr10:104019885-104019885;C/T missense_variant False SLTM@p.K333R 1 0.163636364 ENSG00000137776 chr15:58899529-58899529;T/C missense_variant False SLTM@p.I691V 1 0.126582278 ENSG00000137776 chr15:58890289-58890289;T/C missense_variant False SLTM@p.E682K 1 0.458333333 ENSG00000137776 chr15:58890316-58890316;C/T missense_variant False SLPI@p.N103Qfs*4 1 0.1875 ENSG00000124107 chr20:45253089-45253090;-/G frameshift_variant False SLMAP@p.E665K 1 0.327868852 ENSG00000163681 chr3:57917048-57917048;G/A missense_variant False SLMAP@p.D347N 1 0.167832168 ENSG00000163681 chr3:57864620-57864620;G/A missense_variant False SLK@p.S207F 1 0.395833333 ENSG00000065613 chr10:103999151-103999151;C/T missense_variant False SLITRK6@p.Y690C 1 0.164556962 ENSG00000184564 chr13:85794440-85794440;T/C missense_variant False SLK@p.S1089I 1 0.320261438 ENSG00000065613 chr10:104019867-104019867;G/T missense_variant False SLK@p.Q570H 1 0.193548387 ENSG00000065613 chr10:104002888-104002888;G/C missense_variant False SLK@p.Q1218R 1 0.551724138 ENSG00000065613 chr10:104025665-104025665;A/G missense_variant False SLK@p.L709V 1 0.636363636 ENSG00000065613 chr10:104003303-104003303;C/G missense_variant False SLK@p.F33_E39delinsL 1 0.173913043 ENSG00000065613 chr10:103967844-103967861;TTGGGAGATTATAGGAGA/- inframe_deletion False SLK@p.E990Q 1 0.926470588 ENSG00000065613 chr10:104018250-104018250;G/C missense_variant False SLTM@p.L445V 1 0.256637168 ENSG00000137776 chr15:58894477-58894477;G/C missense_variant False SLTM@p.M299I 1 0.243243243 ENSG00000137776 chr15:58899630-58899630;C/A missense_variant False SLTM@p.M993I 1 0.348837209 ENSG00000137776 chr15:58883643-58883643;C/T missense_variant False SLTM@p.Q974E 1 0.092592593 ENSG00000137776 chr15:58883702-58883702;G/C missense_variant False SLTM@p.R827K 1 0.193877551 ENSG00000137776 chr15:58887436-58887436;C/T missense_variant False SLTM@p.V797D 1 0.286666667 ENSG00000137776 chr15:58887526-58887526;A/T missense_variant False SLU7@p.D164H 1 0.25 ENSG00000164609 chr5:160413536-160413536;C/G missense_variant False SLU7@p.D246N 1 0.242857143 ENSG00000164609 chr5:160408412-160408412;C/T missense_variant False SLU7@p.D305H 1 0.092783505 ENSG00000164609 chr5:160407975-160407975;C/G missense_variant False SLU7@p.E238Q 1 0.220338983 ENSG00000164609 chr5:160408436-160408436;C/G missense_variant False SLU7@p.E333K 1 0.135135135 ENSG00000164609 chr5:160407604-160407604;C/T missense_variant False SLU7@p.G165R 1 0.375 ENSG00000164609 chr5:160413533-160413533;C/T missense_variant False SLU7@p.K44N 1 0.246753247 ENSG00000164609 chr5:160415163-160415163;T/A missense_variant False SLU7@p.R290I 1 0.358778626 ENSG00000164609 chr5:160408019-160408019;C/A missense_variant False SLU7@p.T194I 1 0.482758621 ENSG00000164609 chr5:160412509-160412509;G/A missense_variant False SLURP1@p.H89R 1 0.275862069 ENSG00000126233 chr8:142741189-142741189;T/C missense_variant False SLX4@p.A1221S 1 0.257142857 ENSG00000188827 chr16:3589977-3589977;C/A missense_variant False SLK@p.E912Q 1 0.25 ENSG00000065613 chr10:104008306-104008306;G/C missense_variant False SLITRK6@p.V570A 1 0.045454545 ENSG00000184564 chr13:85794800-85794800;A/G missense_variant False SLITRK3@p.A523P 1 0.273972603 ENSG00000121871 chr3:165189264-165189264;C/G missense_variant False SLITRK3@p.S426F 1 0.224489796 ENSG00000121871 chr3:165189554-165189554;G/A missense_variant False SLITRK4@p.R722I 1 0.940298507 ENSG00000179542 chrX:143628944-143628944;C/A missense_variant False SLITRK4@p.P532L 1 0.813333333 ENSG00000179542 chrX:143629514-143629514;G/A missense_variant False SLITRK4@p.N163Y 1 0.151079137 ENSG00000179542 chrX:143630622-143630622;T/A missense_variant False SLITRK4@p.M710I 1 0.288888889 ENSG00000179542 chrX:143628979-143628979;C/G missense_variant False SLITRK4@p.H799Y 1 0.139534884 ENSG00000179542 chrX:143628714-143628714;G/A missense_variant False SLITRK4@p.E778Q 1 0.298076923 ENSG00000179542 chrX:143628777-143628777;C/G missense_variant False SLITRK3@p.S426C 1 0.052631579 ENSG00000121871 chr3:165189554-165189554;G/C missense_variant False SLITRK6@p.T666Sfs*4 1 0.370689655 ENSG00000184564 chr13:85794510-85794514;GAGTG/- frameshift_variant False SLITRK3@p.Q242K 1 0.335664336 ENSG00000121871 chr3:165190107-165190107;G/T missense_variant False SLITRK3@p.P734Lfs*59 1 0.101265823 ENSG00000121871 chr3:165188630-165188630;G/- frameshift_variant False SLITRK3@p.G877S 1 0.420289855 ENSG00000121871 chr3:165188202-165188202;C/T missense_variant False SLITRK3@p.E815Q 1 0.191176471 ENSG00000121871 chr3:165188388-165188388;C/G missense_variant False SLITRK3@p.E741K 1 0.212121212 ENSG00000121871 chr3:165188610-165188610;C/T missense_variant False SLITRK3@p.A842S 1 0.168067227 ENSG00000121871 chr3:165188307-165188307;C/A missense_variant False SLITRK4@p.S59C 1 0.196078431 ENSG00000179542 chrX:143630933-143630933;G/C missense_variant False SLITRK4@p.T631M 1 0.346456693 ENSG00000179542 chrX:143629217-143629217;G/A missense_variant False SLITRK5@p.A377T 1 0.173076923 ENSG00000165300 chr13:87676517-87676517;G/A missense_variant False SLITRK5@p.C4S 1 0.223684211 ENSG00000165300 chr13:87675399-87675399;G/C missense_variant False SLITRK5@p.C52S 1 0.294117647 ENSG00000165300 chr13:87675542-87675542;T/A missense_variant False SLITRK5@p.E265K 1 0.382352941 ENSG00000165300 chr13:87676181-87676181;G/A missense_variant False SLITRK5@p.K694N 1 0.422018349 ENSG00000165300 chr13:87677470-87677470;G/T missense_variant False SLITRK5@p.L73V 1 0.163366337 ENSG00000165300 chr13:87675605-87675605;C/G missense_variant False SLITRK5@p.N762T 1 0.080291971 ENSG00000165300 chr13:87677673-87677673;A/C missense_variant False SLITRK5@p.P369L 1 0.355932203 ENSG00000165300 chr13:87676494-87676494;C/T missense_variant False SLITRK5@p.R335H 1 0.447674419 ENSG00000165300 chr13:87676392-87676392;G/A missense_variant False SLITRK5@p.R768Q 1 0.793103448 ENSG00000165300 chr13:87677691-87677691;G/A missense_variant False SLITRK5@p.S279C 1 0.283333333 ENSG00000165300 chr13:87676224-87676224;C/G missense_variant False SLITRK5@p.V585I 1 0.547169811 ENSG00000165300 chr13:87677141-87677141;G/A missense_variant False SLITRK6@p.D603A 1 0.198529412 ENSG00000184564 chr13:85794701-85794701;T/G missense_variant False SLITRK6@p.E104D 1 0.4 ENSG00000184564 chr13:85796197-85796197;C/G missense_variant False SLITRK6@p.F407C 1 0.217391304 ENSG00000184564 chr13:85795289-85795289;A/C missense_variant False SMARCC2@p.R519Q 1 0.377171216 ENSG00000139613 chr12:56173790-56173790;C/T missense_variant False SMARCC2@p.R717Q 1 0.149253731 ENSG00000139613 chr12:56171375-56171375;C/T missense_variant False SMARCC2@p.S304C 1 0.395348837 ENSG00000139613 chr12:56181527-56181527;G/C missense_variant False SMOC2@p.K210T 1 0.42 ENSG00000112562 chr6:168549195-168549195;A/C missense_variant False SMOX@p.R272H 1 0.45 ENSG00000088826 chr20:4182294-4182294;G/A missense_variant False SMOX@p.E545K 1 0.128205128 ENSG00000088826 chr20:4187372-4187372;G/A missense_variant False SMOX@p.E446K 1 0.454545455 ENSG00000088826 chr20:4182815-4182815;G/A missense_variant False SMOC2@p.S334L 1 0.8 ENSG00000112562 chr6:168650774-168650774;C/T missense_variant False SMOC2@p.R443S 1 0.41025641 ENSG00000112562 chr6:168666426-168666426;G/C missense_variant False SMOC2@p.R431K 1 0.11827957 ENSG00000112562 chr6:168664080-168664080;G/A missense_variant False SMOC2@p.E311K 1 0.35 ENSG00000112562 chr6:168650704-168650704;G/A missense_variant False SMPD1@p.E464K 1 0.12987013 ENSG00000166311 chr11:6393945-6393945;G/A missense_variant False SMOC2@p.A54T 1 0.467391304 ENSG00000112562 chr6:168509990-168509990;G/A missense_variant False SMOC2@p.A434T 1 0.264705882 ENSG00000112562 chr6:168664088-168664088;G/A missense_variant False SMOC1@p.E317Q 1 0.075757576 ENSG00000198732 chr14:70013394-70013394;G/C missense_variant False SMOC1@p.D192N 1 0.126315789 ENSG00000198732 chr14:69992464-69992464;G/A missense_variant False SMO@p.V600M 1 0.312977099 ENSG00000128602 chr7:129211110-129211110;G/A missense_variant True SMO@p.R199W 1 0.098039216 ENSG00000128602 chr7:129205260-129205260;C/T missense_variant True SMOX@p.R542H 1 0.362637363 ENSG00000088826 chr20:4187364-4187364;G/A missense_variant False SMPD1@p.E471K 1 0.102564103 ENSG00000166311 chr11:6393966-6393966;G/A missense_variant False SMARCC2@p.S553F 1 0.243589744 ENSG00000139613 chr12:56172697-56172697;G/A missense_variant False SMPD3@p.P565S 1 0.289473684 ENSG00000103056 chr16:68363512-68363512;G/A missense_variant False SMPDL3A@p.S260C 1 0.294871795 ENSG00000172594 chr6:122804949-122804949;C/G missense_variant False SMPDL3A@p.Q241K 1 0.256880734 ENSG00000172594 chr6:122803816-122803816;C/A missense_variant False SMPDL3A@p.P317A 1 0.142857143 ENSG00000172594 chr6:122806262-122806262;C/G missense_variant False SMPD4@p.E386Q 1 0.3 ENSG00000136699 chr2:130157309-130157309;C/G missense_variant False SMPD4@p.E307K 1 0.3 ENSG00000136699 chr2:130164436-130164436;C/T missense_variant False SMPD4@p.A640G 1 0.586538462 ENSG00000136699 chr2:130153793-130153793;G/C missense_variant False SMPD3@p.F145Y 1 0.263157895 ENSG00000103056 chr16:68371748-68371748;A/T missense_variant False SMPD1@p.P331S 1 0.358974359 ENSG00000166311 chr11:6392056-6392056;C/T missense_variant False SMPD3@p.D505E 1 0.258064516 ENSG00000103056 chr16:68364791-68364791;G/C missense_variant False SMPD2@p.R152P 1 0.089430894 ENSG00000135587 chr6:109442589-109442589;G/C missense_variant False SMPD2@p.D401Sfs*? 1 0.2125 ENSG00000135587 chr6:109443827-109443839;GGCCCAGGATCTG/- frameshift_variant False SMPD2@p.D401N 1 0.318181818 ENSG00000135587 chr6:109443834-109443834;G/A missense_variant False SMPD1@p.W170G 1 0.25 ENSG00000166311 chr11:6391573-6391573;T/G missense_variant False SMPD1@p.S154R 1 0.414634146 ENSG00000166311 chr11:6391527-6391527;C/G missense_variant False SMO@p.Q710H 1 0.333333333 ENSG00000128602 chr7:129212217-129212217;G/T missense_variant True SMO@p.P753L 1 0.318181818 ENSG00000128602 chr7:129212345-129212345;C/T missense_variant True SMO@p.G280C 1 0.203539823 ENSG00000128602 chr7:129205700-129205700;G/T missense_variant True SMG7@p.K920N 1 0.5 ENSG00000116698 chr1:183549225-183549225;G/T missense_variant False SMG7@p.S929F 1 0.312 ENSG00000116698 chr1:183549251-183549251;C/T missense_variant False SMG7@p.S223F 1 0.31147541 ENSG00000116698 chr1:183529003-183529003;C/T missense_variant False SMG7@p.S1092C 1 0.282608696 ENSG00000116698 chr1:183551165-183551165;C/G missense_variant False SMG7@p.R1040K 1 0.5 ENSG00000116698 chr1:183550886-183550886;G/A missense_variant False SMG7@p.Q697L 1 0.135888502 ENSG00000116698 chr1:183545032-183545032;A/T missense_variant False SMG7@p.P391Sfs*4 1 0.584615385 ENSG00000116698 chr1:183537152-183537165;CCCTGGTTGATTTC/- frameshift_variant False SMG7@p.H784Y 1 0.134146341 ENSG00000116698 chr1:183545292-183545292;C/T missense_variant False SMO@p.F787L 1 0.310344828 ENSG00000128602 chr7:129212448-129212448;C/G missense_variant True SMG7@p.E832Q 1 0.217948718 ENSG00000116698 chr1:183546089-183546089;G/C missense_variant False SMG7@p.E1116Q 1 0.121212121 ENSG00000116698 chr1:183551863-183551863;G/C missense_variant False SMG6@p.G437V 1 0.341085271 ENSG00000070366 chr17:2299443-2299443;C/A missense_variant False SMG6@p.E167K 1 0.138888889 ENSG00000070366 chr17:2300254-2300254;C/T missense_variant False SMG5@p.R735C 1 0.420168067 ENSG00000198952 chr1:156260531-156260531;G/A missense_variant False SMG5@p.R286T 1 0.41 ENSG00000198952 chr1:156268166-156268166;C/G missense_variant False SMG8@p.E106K 1 0.341463415 ENSG00000167447 chr17:59210367-59210367;G/A missense_variant False SMG8@p.E457Q 1 0.405405405 ENSG00000167447 chr17:59211420-59211420;G/C missense_variant False SMG8@p.E591Q 1 0.044198895 ENSG00000167447 chr17:59212352-59212352;G/C missense_variant False SMG8@p.E963D 1 0.194805195 ENSG00000167447 chr17:59214915-59214915;G/C missense_variant False SMG8@p.P249A 1 0.252747253 ENSG00000167447 chr17:59210796-59210796;C/G missense_variant False SMG8@p.Q920H 1 0.104712042 ENSG00000167447 chr17:59213583-59213583;G/T missense_variant False SMG8@p.R803S 1 0.464285714 ENSG00000167447 chr17:59213232-59213232;G/C missense_variant False SMG8@p.R805K 1 0.121212121 ENSG00000167447 chr17:59213237-59213237;G/A missense_variant False SMG8@p.R805T 1 0.119617225 ENSG00000167447 chr17:59213237-59213237;G/C missense_variant False SMG8@p.T70_C72delinsS 1 0.25 ENSG00000167447 chr17:59210260-59210265;CGGTGT/- inframe_deletion False SMG8@p.W189S 1 0.085714286 ENSG00000167447 chr17:59210617-59210617;G/C missense_variant False SMG9@p.D257H 1 0.292993631 ENSG00000105771 chr19:43740151-43740151;C/G missense_variant False SMG9@p.L31F 1 0.362416107 ENSG00000105771 chr19:43750651-43750651;G/A missense_variant False SMIM15@p.K60Nfs*12 1 0.153846154 ENSG00000188725 chr5:61159992-61159992;T/- frameshift_variant False SMIM19@p.K47R 1 0.101265823 ENSG00000176209 chr8:42548661-42548661;A/G missense_variant False SMIM21@p.E45D 1 0.344262295 ENSG00000206026 chr18:75418911-75418911;T/G missense_variant False SMNDC1@p.M145I 1 0.263157895 ENSG00000119953 chr10:110295372-110295372;C/G missense_variant False SMPDL3B@p.F341L 1 0.0625 ENSG00000130768 chr1:27958493-27958493;C/A missense_variant False SMPDL3B@p.G185R 1 0.113924051 ENSG00000130768 chr1:27954389-27954389;G/A missense_variant False SMPDL3B@p.L63P 1 0.152542373 ENSG00000130768 chr1:27945358-27945358;T/C missense_variant False SMYD4@p.E74Q 1 0.304347826 ENSG00000186532 chr17:1812030-1812030;C/G missense_variant False SNAI1@p.S260L 1 0.526315789 ENSG00000124216 chr20:49988040-49988040;C/T missense_variant False SNAI1@p.S221C 1 0.108695652 ENSG00000124216 chr20:49987923-49987923;C/G missense_variant False SNAI1@p.L132F 1 0.17721519 ENSG00000124216 chr20:49984137-49984137;G/T missense_variant False SMYD5@p.S4C 1 0.241308793 ENSG00000135632 chr2:73214277-73214277;C/G missense_variant False SMYD4@p.K588N 1 0.4375 ENSG00000186532 chr17:1786930-1786930;C/A missense_variant False SMYD4@p.G338E 1 0.547619048 ENSG00000186532 chr17:1800381-1800381;C/T missense_variant False SMYD4@p.E688D 1 0.25 ENSG00000186532 chr17:1783433-1783433;C/G missense_variant False SMYD1@p.R441Q 1 0.282051282 ENSG00000115593 chr2:88110361-88110361;G/A missense_variant False SMYD4@p.E455Q 1 0.175 ENSG00000186532 chr17:1800031-1800031;C/G missense_variant False SMYD4@p.D128N 1 0.090909091 ENSG00000186532 chr17:1801012-1801012;C/T missense_variant False SMYD3@p.I325M 1 0.055555556 ENSG00000185420 chr1:245858597-245858597;G/C missense_variant False SMYD3@p.E303Sfs*11 1 0.171428571 ENSG00000185420 chr1:245858665-245858665;C/- frameshift_variant False SMYD2@p.E396Dfs*10 1 0.109589041 ENSG00000143499 chr1:214334274-214334274;A/- frameshift_variant False SMYD2@p.E319K 1 0.142857143 ENSG00000143499 chr1:214332035-214332035;G/A missense_variant False SNAI2@p.E110K 1 0.328042328 ENSG00000019549 chr8:48920193-48920193;C/T missense_variant False SNAI2@p.G51E 1 0.328358209 ENSG00000019549 chr8:48920369-48920369;C/T missense_variant False SNAI2@p.H217Y 1 0.083333333 ENSG00000019549 chr8:48918965-48918965;G/A missense_variant False SNAI3@p.R96G 1 0.163934426 ENSG00000185669 chr16:88681505-88681505;G/C missense_variant False SNAI3@p.S32F 1 0.833333333 ENSG00000185669 chr16:88681696-88681696;G/A missense_variant False SNAP23@p.N77S 1 0.253968254 ENSG00000092531 chr15:42515318-42515318;A/G missense_variant False SNAP23@p.Q180E 1 0.051546392 ENSG00000092531 chr15:42529787-42529787;C/G missense_variant False SNAP23@p.R26K 1 0.155555556 ENSG00000092531 chr15:42512974-42512974;G/A missense_variant False SNAP25@p.E151Q 1 0.237885463 ENSG00000132639 chr20:10299311-10299311;G/C missense_variant False SNAP25@p.L78F 1 0.245762712 ENSG00000132639 chr20:10293231-10293231;G/C missense_variant False SNAP25@p.R191T 1 0.403508772 ENSG00000132639 chr20:10306148-10306148;G/C missense_variant False SNAP29@p.G86A 1 0.156716418 ENSG00000099940 chr22:20870356-20870356;G/C missense_variant False SNAP29@p.R29Q 1 0.275 ENSG00000099940 chr22:20859196-20859196;G/A missense_variant False SNAP29@p.V115M 1 0.285714286 ENSG00000099940 chr22:20870442-20870442;G/A missense_variant False SNAP47@p.E166K 1 0.157894737 ENSG00000143740 chr1:227748097-227748097;G/A missense_variant False SNAP47@p.S268C 1 0.240740741 ENSG00000143740 chr1:227759165-227759165;C/G missense_variant False SNAP47@p.V135L 1 0.243697479 ENSG00000143740 chr1:227748004-227748004;G/C missense_variant False SMYD1@p.T312A 1 0.325301205 ENSG00000115593 chr2:88103103-88103103;A/G missense_variant False SMYD1@p.E304K 1 0.333333333 ENSG00000115593 chr2:88103079-88103079;G/A missense_variant False SMPDL3B@p.P239L 1 0.25 ENSG00000130768 chr1:27955709-27955709;C/T missense_variant False SMTNL1@p.E10Q 1 0.357142857 ENSG00000214872 chr11:57542670-57542670;G/C missense_variant False SMTNL2@p.P240S 1 0.14893617 ENSG00000188176 chr17:4593159-4593159;C/T missense_variant False SMTNL2@p.D166N 1 0.603174603 ENSG00000188176 chr17:4592937-4592937;G/A missense_variant False SMTNL1@p.Y358S 1 0.25 ENSG00000214872 chr11:57546343-57546343;A/C missense_variant False SMTNL1@p.K357N 1 0.25 ENSG00000214872 chr11:57546341-57546341;A/T missense_variant False SMTNL1@p.E221K 1 0.764705882 ENSG00000214872 chr11:57543663-57543663;G/A missense_variant False SMTNL1@p.E167K 1 0.631578947 ENSG00000214872 chr11:57543141-57543141;G/A missense_variant False SMTNL1@p.D193N 1 0.328571429 ENSG00000214872 chr11:57543297-57543297;G/A missense_variant False SMYD1@p.D45N 1 0.231578947 ENSG00000115593 chr2:88067997-88067997;G/A missense_variant False SMTN@p.V879E 1 0.177865613 ENSG00000183963 chr22:31104348-31104348;T/A missense_variant False SMTN@p.V591I 1 0.49122807 ENSG00000183963 chr22:31095441-31095441;G/A missense_variant False SMS@p.E20K 1 0.34375 ENSG00000102172 chrX:21967204-21967204;G/A missense_variant False SMR3B@p.R58T 1 0.402298851 ENSG00000171201 chr4:70389781-70389781;G/C missense_variant False SMR3A@p.R75K 1 0.135135135 ENSG00000109208 chr4:70366813-70366813;G/A missense_variant False SMPDL3B@p.R264W 1 0.088607595 ENSG00000130768 chr1:27955783-27955783;C/T missense_variant False SMTNL2@p.S230N 1 0.558441558 ENSG00000188176 chr17:4593130-4593130;G/A missense_variant False SMTNL2@p.Y454Kfs*64 1 0.264069264 ENSG00000188176 chr17:4607461-4607463;TAC/AA frameshift_variant False SMU1@p.A355S 1 0.25 ENSG00000122692 chr9:33056172-33056172;C/A missense_variant False SMU1@p.Q496E 1 0.122807018 ENSG00000122692 chr9:33047349-33047349;G/C missense_variant False SMU1@p.R346C 1 1.0 ENSG00000122692 chr9:33056199-33056199;G/A missense_variant False SMU1@p.S316C 1 0.178571429 ENSG00000122692 chr9:33056885-33056885;G/C missense_variant False SMURF1@p.D366Y 1 0.191435768 ENSG00000198742 chr7:99047818-99047818;C/A missense_variant False SMURF1@p.R386I 1 0.208092486 ENSG00000198742 chr7:99047757-99047757;C/A missense_variant False SMURF1@p.S363F 1 0.043269231 ENSG00000198742 chr7:99047826-99047826;G/A missense_variant False SMURF1@p.T245R 1 0.331168831 ENSG00000198742 chr7:99051429-99051429;G/C missense_variant False SMURF2@p.A103V 1 0.403225806 ENSG00000108854 chr17:64593466-64593466;G/A missense_variant False SMURF2@p.L599F 1 0.150793651 ENSG00000108854 chr17:64551656-64551656;C/A missense_variant False SMURF2@p.L672V 1 0.489626556 ENSG00000108854 chr17:64547657-64547657;G/C missense_variant False SMURF2@p.Q602H 1 0.398058252 ENSG00000108854 chr17:64551647-64551647;C/G missense_variant False SMURF2@p.S235L 1 0.326923077 ENSG00000108854 chr17:64580857-64580857;G/A missense_variant False SMURF2@p.S516L 1 0.467741935 ENSG00000108854 chr17:64555883-64555883;G/A missense_variant False SMURF2@p.T308M 1 0.083333333 ENSG00000108854 chr17:64571891-64571891;G/A missense_variant False SMG5@p.R272W 1 0.200743494 ENSG00000198952 chr1:156268315-156268315;G/A missense_variant False SMG5@p.Q210E 1 0.294117647 ENSG00000198952 chr1:156273367-156273367;G/C missense_variant False SMG5@p.M516I 1 0.430379747 ENSG00000198952 chr1:156266088-156266088;C/T missense_variant False SMC2@p.R519T 1 0.068965517 ENSG00000136824 chr9:104114714-104114714;G/C missense_variant False SMC3@p.L859V 1 0.32173913 ENSG00000108055 chr10:110601061-110601061;C/G missense_variant False SMC3@p.I824T 1 0.740740741 ENSG00000108055 chr10:110600482-110600482;T/C missense_variant False SMC3@p.E476K 1 0.371794872 ENSG00000108055 chr10:110589908-110589908;G/A missense_variant False SMC3@p.E198Q 1 0.312 ENSG00000108055 chr10:110581967-110581967;G/C missense_variant False SMC2@p.R986T 1 0.275 ENSG00000136824 chr9:104129811-104129811;G/C missense_variant False SMC2@p.R787K 1 0.142857143 ENSG00000136824 chr9:104125014-104125014;G/A missense_variant False SMC2@p.R232H 1 0.152173913 ENSG00000136824 chr9:104102018-104102018;G/A missense_variant False SMC2@p.E611K 1 0.87037037 ENSG00000136824 chr9:104118210-104118210;G/A missense_variant False SMC2@p.Q413E 1 0.222222222 ENSG00000136824 chr9:104111797-104111797;C/G missense_variant False SMC2@p.M985I 1 0.23255814 ENSG00000136824 chr9:104129809-104129809;G/A missense_variant False SMC2@p.M1002I 1 0.519230769 ENSG00000136824 chr9:104132023-104132023;G/C missense_variant False SMC2@p.L398V 1 0.170731707 ENSG00000136824 chr9:104111752-104111752;C/G missense_variant False SMC2@p.L1016F 1 0.086956522 ENSG00000136824 chr9:104132063-104132063;C/T missense_variant False SMC2@p.I1179V 1 0.230769231 ENSG00000136824 chr9:104139256-104139256;A/G missense_variant False SMC3@p.M925I 1 0.279069767 ENSG00000108055 chr10:110601767-110601767;G/A missense_variant False SMC3@p.R166T 1 0.512195122 ENSG00000108055 chr10:110580971-110580971;G/C missense_variant False SMC3@p.S243C 1 0.444444444 ENSG00000108055 chr10:110582566-110582566;C/G missense_variant False SMC4@p.D1010H 1 0.528571429 ENSG00000113810 chr3:160431119-160431119;G/C missense_variant False SMC4@p.D174N 1 0.185185185 ENSG00000113810 chr3:160404337-160404337;G/A missense_variant False SMC4@p.D630H 1 0.114130435 ENSG00000113810 chr3:160420770-160420770;G/C missense_variant False SMC4@p.D904H 1 0.069306931 ENSG00000113810 chr3:160428857-160428857;G/C missense_variant False SMC4@p.E60K 1 0.241830065 ENSG00000113810 chr3:160401953-160401953;G/A missense_variant False SMC4@p.E833K 1 0.068027211 ENSG00000113810 chr3:160426092-160426092;G/A missense_variant False SMC4@p.K573E 1 0.3 ENSG00000113810 chr3:160419403-160419403;A/G missense_variant False SMC4@p.L835F 1 0.068181818 ENSG00000113810 chr3:160426100-160426100;G/C missense_variant False SMC4@p.M681I 1 0.380487805 ENSG00000113810 chr3:160423448-160423448;G/A missense_variant False SMC4@p.R14T 1 0.375 ENSG00000113810 chr3:160400867-160400867;G/C missense_variant False SMC4@p.R991C 1 0.258823529 ENSG00000113810 chr3:160431062-160431062;C/T missense_variant False SMC5@p.E1020Q 1 0.193548387 ENSG00000198887 chr9:70350282-70350282;G/C missense_variant False SMC5@p.E366K 1 0.256578947 ENSG00000198887 chr9:70298008-70298008;G/A missense_variant False SMC5@p.E594K 1 0.5 ENSG00000198887 chr9:70315552-70315552;G/A missense_variant False SMC2@p.E700K 1 0.466666667 ENSG00000136824 chr9:104120128-104120128;G/A missense_variant False SMC2@p.E19K 1 0.424242424 ENSG00000136824 chr9:104095439-104095439;G/A missense_variant False SMC5@p.E937Q 1 0.142857143 ENSG00000198887 chr9:70347958-70347958;G/C missense_variant False SMARCE1@p.D184N 1 0.361904762 ENSG00000073584 chr17:40632359-40632359;C/T missense_variant False SMC1A@p.E583Q 1 0.2 ENSG00000072501 chrX:53405657-53405657;C/G missense_variant False SMC1A@p.E583K 1 0.787878788 ENSG00000072501 chrX:53405657-53405657;C/T missense_variant False SMC1A@p.E357K 1 0.333333333 ENSG00000072501 chrX:53412039-53412039;C/T missense_variant False SMC1A@p.D405N 1 1.0 ENSG00000072501 chrX:53411802-53411802;C/T missense_variant False SMARCE1@p.R160_Q161del 1 0.166666667 ENSG00000073584 chr17:40635990-40635995;TGTCTC/- inframe_deletion False SMARCE1@p.E244Q 1 0.342857143 ENSG00000073584 chr17:40631678-40631678;C/G missense_variant False SMARCD3@p.M151I 1 0.303167421 ENSG00000082014 chr7:151242724-151242724;C/T missense_variant False SMC2@p.D914N 1 0.15942029 ENSG00000136824 chr9:104127430-104127430;G/A missense_variant False SMARCD3@p.E448D 1 0.245901639 ENSG00000082014 chr7:151239450-151239450;C/G missense_variant False SMARCD3@p.E173K 1 0.25 ENSG00000082014 chr7:151242543-151242543;C/T missense_variant False SMARCD2@p.E490K 1 0.368421053 ENSG00000108604 chr17:63833143-63833143;C/T missense_variant False SMARCD1@p.N122dup 1 0.111111111 ENSG00000066117 chr12:50086344-50086345;-/ACA inframe_insertion False SMARCD1@p.I417T 1 0.176470588 ENSG00000066117 chr12:50094553-50094553;T/C missense_variant False SMARCD1@p.E439K 1 0.191489362 ENSG00000066117 chr12:50096895-50096895;G/A missense_variant False SMC1A@p.E793K 1 0.666666667 ENSG00000072501 chrX:53403609-53403609;C/T missense_variant False SMC1A@p.K1133N 1 0.611111111 ENSG00000072501 chrX:53382270-53382270;C/G missense_variant False SMC1A@p.K384N 1 0.927272727 ENSG00000072501 chrX:53411863-53411863;C/G missense_variant False SMC1A@p.K825N 1 0.551724138 ENSG00000072501 chrX:53399676-53399676;C/G missense_variant False SMC1A@p.Q323H 1 0.925925926 ENSG00000072501 chrX:53412139-53412139;C/G missense_variant False SMC1A@p.Q704E 1 0.7 ENSG00000072501 chrX:53405098-53405098;G/C missense_variant False SMC1A@p.R599C 1 1.0 ENSG00000072501 chrX:53405609-53405609;G/A missense_variant False SMC1A@p.R758P 1 0.233333333 ENSG00000072501 chrX:53403817-53403817;C/G missense_variant False SMC1B@p.E911Q 1 0.117647059 ENSG00000077935 chr22:45359936-45359936;C/G missense_variant False SMC1B@p.G166R 1 0.064935065 ENSG00000077935 chr22:45406579-45406579;C/T missense_variant False SMC1B@p.H524Y 1 0.347457627 ENSG00000077935 chr22:45389873-45389873;G/A missense_variant False SMC1B@p.L45I 1 0.043859649 ENSG00000077935 chr22:45408875-45408875;G/T missense_variant False SMC1B@p.L982V 1 0.142857143 ENSG00000077935 chr22:45358714-45358714;G/C missense_variant False SMC1B@p.N1110D 1 0.512195122 ENSG00000077935 chr22:45352548-45352548;T/C missense_variant False SMC1B@p.S715L 1 0.548387097 ENSG00000077935 chr22:45372207-45372207;G/A missense_variant False SMC2@p.D447H 1 0.135135135 ENSG00000136824 chr9:104113400-104113400;G/C missense_variant False SMC2@p.D658H 1 0.053435115 ENSG00000136824 chr9:104118351-104118351;G/C missense_variant False SMC5@p.E598Q 1 0.29787234 ENSG00000198887 chr9:70315564-70315564;G/C missense_variant False SMC5@p.I868T 1 0.458333333 ENSG00000198887 chr9:70347100-70347100;T/C missense_variant False SMG5@p.L127V 1 0.114285714 ENSG00000198952 chr1:156277160-156277160;G/C missense_variant False SMCR8@p.P598L 1 0.358974359 ENSG00000176994 chr17:18317582-18317582;C/T missense_variant False SMG1@p.E2184K 1 0.416149068 ENSG00000157106 chr16:18841711-18841711;C/T missense_variant False SMG1@p.D861Y 1 0.357142857 ENSG00000157106 chr16:18869906-18869906;C/A missense_variant False SMG1@p.A3571P 1 0.151898734 ENSG00000157106 chr16:18812038-18812038;C/G missense_variant False SMCR8@p.S227C 1 0.295454545 ENSG00000176994 chr17:18316469-18316469;C/G missense_variant False SMCR8@p.Q778K 1 0.337662338 ENSG00000176994 chr17:18318121-18318121;C/A missense_variant False SMCR8@p.Q395K 1 0.352941176 ENSG00000176994 chr17:18316972-18316972;C/A missense_variant False SMCR8@p.H246N 1 0.5 ENSG00000176994 chr17:18316525-18316525;C/A missense_variant False SMCO1@p.E190Q 1 0.470588235 ENSG00000214097 chr3:196507964-196507964;C/G missense_variant False SMCR8@p.E543K 1 0.621052632 ENSG00000176994 chr17:18317416-18317416;G/A missense_variant False SMCR8@p.E405K 1 0.5 ENSG00000176994 chr17:18317002-18317002;G/A missense_variant False SMCR8@p.D143N 1 0.263157895 ENSG00000176994 chr17:18316216-18316216;G/A missense_variant False SMCP@p.E75Q 1 0.0859375 ENSG00000163206 chr1:152884645-152884645;G/C missense_variant False SMCO3@p.L26F 1 0.292134831 ENSG00000179256 chr12:14806605-14806605;G/A missense_variant False SMCO1@p.L73F 1 0.333333333 ENSG00000214097 chr3:196508313-196508313;C/A missense_variant False SMG1@p.E366K 1 0.240740741 ENSG00000157106 chr16:18884093-18884093;C/T missense_variant False SMG1@p.G1863C 1 0.25 ENSG00000157106 chr16:18849253-18849253;C/A missense_variant False SMG1@p.H706R 1 0.172413793 ENSG00000157106 chr16:18872250-18872250;T/C missense_variant False SMG1@p.L2013F 1 0.172248804 ENSG00000157106 chr16:18845609-18845609;C/G missense_variant False SMG1@p.L2604V 1 0.4 ENSG00000157106 chr16:18836180-18836180;G/C missense_variant False SMG1@p.L360V 1 0.140350877 ENSG00000157106 chr16:18884111-18884111;G/C missense_variant False SMG1@p.L754V 1 0.214285714 ENSG00000157106 chr16:18871406-18871406;G/C missense_variant False SMG1@p.N1941S 1 0.172839506 ENSG00000157106 chr16:18847835-18847835;T/C missense_variant False SMG1@p.R50K 1 0.380952381 ENSG00000157106 chr16:18896900-18896900;C/T missense_variant False SMG1@p.S1907F 1 0.164556962 ENSG00000157106 chr16:18847937-18847937;G/A missense_variant False SMG1@p.S2537F 1 0.139240506 ENSG00000157106 chr16:18836527-18836527;G/A missense_variant False SMG1@p.S3048L 1 0.483870968 ENSG00000157106 chr16:18829746-18829746;G/A missense_variant False SMG1@p.S3242F 1 0.3125 ENSG00000157106 chr16:18828047-18828047;G/A missense_variant False SMG5@p.E242Q 1 0.455555556 ENSG00000198952 chr1:156268405-156268405;C/G missense_variant False SMG5@p.E344Q 1 0.096774194 ENSG00000198952 chr1:156267557-156267557;C/G missense_variant False SMG5@p.G406D 1 0.510638298 ENSG00000198952 chr1:156266579-156266579;C/T missense_variant False SMG5@p.H599Y 1 0.293333333 ENSG00000198952 chr1:156265841-156265841;G/A missense_variant False SMCO1@p.L109F 1 0.281914894 ENSG00000214097 chr3:196508207-196508207;G/A missense_variant False SMCO1@p.E151K 1 0.107438017 ENSG00000214097 chr3:196508081-196508081;C/T missense_variant False SMC5@p.Q583E 1 0.147058824 ENSG00000198887 chr9:70315519-70315519;C/G missense_variant False SMC6@p.E609Q 1 0.236363636 ENSG00000163029 chr2:17708659-17708659;C/G missense_variant False SMCHD1@p.D409H 1 0.061403509 ENSG00000101596 chr18:2697924-2697924;G/C missense_variant False SMCHD1@p.D150N 1 0.217391304 ENSG00000101596 chr18:2673304-2673304;G/A missense_variant False SMC6@p.R1080K 1 0.316326531 ENSG00000163029 chr2:17665536-17665536;C/T missense_variant False SMC6@p.Q259E 1 0.058823529 ENSG00000163029 chr2:17721213-17721213;G/C missense_variant False SMC6@p.M193I 1 0.106382979 ENSG00000163029 chr2:17726434-17726434;C/T missense_variant False SMC6@p.K288R 1 0.272727273 ENSG00000163029 chr2:17721022-17721022;T/C missense_variant False SMC6@p.E415G 1 0.075471698 ENSG00000163029 chr2:17716843-17716843;T/C missense_variant False SMCO1@p.D19H 1 0.347222222 ENSG00000214097 chr3:196509665-196509665;C/G missense_variant False SMC6@p.A636Lfs*25 1 0.362745098 ENSG00000163029 chr2:17707319-17707319;C/- frameshift_variant False SMC5@p.V278A 1 0.289473684 ENSG00000198887 chr9:70282435-70282435;T/C missense_variant False SMC5@p.S88T 1 0.290322581 ENSG00000198887 chr9:70264381-70264381;G/C missense_variant False SMC5@p.S877L 1 0.229166667 ENSG00000198887 chr9:70347127-70347127;C/T missense_variant False SMC5@p.R878T 1 0.25 ENSG00000198887 chr9:70347130-70347130;G/C missense_variant False SMC5@p.R426T 1 0.655172414 ENSG00000198887 chr9:70298189-70298189;G/C missense_variant False SMCHD1@p.E1147K 1 0.105263158 ENSG00000101596 chr18:2739445-2739445;G/A missense_variant False SMCHD1@p.E1321K 1 0.142857143 ENSG00000101596 chr18:2750076-2750076;G/A missense_variant False SMCHD1@p.E1477Q 1 0.238095238 ENSG00000101596 chr18:2760734-2760734;G/C missense_variant False SMCHD1@p.E1605Q 1 0.636363636 ENSG00000101596 chr18:2769787-2769787;G/C missense_variant False SMCHD1@p.E952Q 1 0.264705882 ENSG00000101596 chr18:2728537-2728537;G/C missense_variant False SMCHD1@p.G24S 1 0.294117647 ENSG00000101596 chr18:2656145-2656145;G/A missense_variant False SMCHD1@p.I1357T 1 0.268292683 ENSG00000101596 chr18:2750412-2750412;T/C missense_variant False SMCHD1@p.I1741Lfs*11 1 0.8125 ENSG00000101596 chr18:2775777-2775780;TTAT/- frameshift_variant False SMCHD1@p.P1032A 1 0.257142857 ENSG00000101596 chr18:2732310-2732310;C/G missense_variant False SMCHD1@p.Q1072E 1 0.28 ENSG00000101596 chr18:2732430-2732430;C/G missense_variant False SMCHD1@p.R158C 1 0.423076923 ENSG00000101596 chr18:2673328-2673328;C/T missense_variant False SMCHD1@p.R1669Q 1 0.226190476 ENSG00000101596 chr18:2771572-2771572;G/A missense_variant False SMCHD1@p.R807K 1 0.171875 ENSG00000101596 chr18:2718396-2718396;G/A missense_variant False SMCHD1@p.S1193C 1 0.340909091 ENSG00000101596 chr18:2740766-2740766;C/G missense_variant False SMCHD1@p.S1242C 1 0.1875 ENSG00000101596 chr18:2743852-2743852;C/G missense_variant False SMCHD1@p.S1507L 1 0.169811321 ENSG00000101596 chr18:2762190-2762190;C/T missense_variant False SMCHD1@p.T1756I 1 0.192307692 ENSG00000101596 chr18:2775825-2775825;C/T missense_variant False SLFN11@p.H285D 1 0.348717949 ENSG00000172716 chr17:35362955-35362955;G/C missense_variant False SLFN11@p.E95K 1 0.474576271 ENSG00000172716 chr17:35363525-35363525;C/T missense_variant False SLFN11@p.E44D 1 0.326086957 ENSG00000172716 chr17:35363676-35363676;C/G missense_variant False SLC4A9@p.N203K 1 0.553846154 ENSG00000113073 chr5:140361839-140361839;T/A missense_variant False SLC52A2@p.Q298H 1 0.162162162 ENSG00000185803 chr8:144360386-144360386;G/C missense_variant False SLC52A2@p.A175G 1 0.483870968 ENSG00000185803 chr8:144360016-144360016;C/G missense_variant False SLC52A1@p.V205L 1 0.138576779 ENSG00000132517 chr17:5033876-5033876;C/G missense_variant False SLC50A1@p.R183T 1 0.233766234 ENSG00000169241 chr1:155138082-155138082;G/C missense_variant False SLC50A1@p.L79Cfs*46 1 0.269230769 ENSG00000169241 chr1:155136899-155136900;-/TGCG frameshift_variant False SLC4A9@p.R922Q 1 0.571428571 ENSG00000113073 chr5:140372264-140372264;G/A missense_variant False SLC4A9@p.H196Y 1 0.267857143 ENSG00000113073 chr5:140361816-140361816;C/T missense_variant False SLC52A2@p.S223F 1 0.494252874 ENSG00000185803 chr8:144360160-144360160;C/T missense_variant False SLC4A9@p.D938H 1 0.6 ENSG00000113073 chr5:140372311-140372311;G/C missense_variant False SLC4A8@p.Q756E 1 0.283185841 ENSG00000050438 chr12:51485880-51485880;C/G missense_variant False SLC4A8@p.I837M 1 0.347826087 ENSG00000050438 chr12:51489762-51489762;C/G missense_variant False SLC4A8@p.I788T 1 0.352941176 ENSG00000050438 chr12:51488775-51488775;T/C missense_variant False SLC4A8@p.H647Y 1 0.195652174 ENSG00000050438 chr12:51474376-51474376;C/T missense_variant False SLC4A8@p.E43Q 1 0.289473684 ENSG00000050438 chr12:51440786-51440786;G/C missense_variant False SLC52A2@p.R402Pfs*43 1 0.435897436 ENSG00000185803 chr8:144360874-144360875;-/G frameshift_variant False SLC52A3@p.A338T 1 0.202898551 ENSG00000101276 chr20:763559-763559;C/T missense_variant False SLC6A15@p.Y599H 1 0.358108108 ENSG00000072041 chr12:84863462-84863462;A/G missense_variant False SLC5A12@p.S373F 1 0.255813953 ENSG00000148942 chr11:26692524-26692524;G/A missense_variant False SLC5A2@p.I174M 1 0.261904762 ENSG00000140675 chr16:31486223-31486223;C/G missense_variant False SLC5A1@p.S537C 1 0.103703704 ENSG00000100170 chr22:32102182-32102182;C/G missense_variant False SLC5A1@p.S396Y 1 0.28021978 ENSG00000100170 chr22:32091669-32091669;C/A missense_variant False SLC5A1@p.P552L 1 0.077922078 ENSG00000100170 chr22:32102227-32102227;C/T missense_variant False SLC5A1@p.E613Q 1 0.205882353 ENSG00000100170 chr22:32110055-32110055;G/C missense_variant False SLC5A12@p.V213L 1 0.108626198 ENSG00000148942 chr11:26703836-26703836;C/G missense_variant False SLC5A11@p.V55M 1 0.057291667 ENSG00000158865 chr16:24862628-24862628;G/A missense_variant False SLC52A3@p.I265M 1 0.134328358 ENSG00000101276 chr20:763776-763776;G/C missense_variant False SLC5A11@p.Q568E 1 0.136363636 ENSG00000158865 chr16:24910357-24910357;C/G missense_variant False SLC5A11@p.I260S 1 0.066115702 ENSG00000158865 chr16:24890983-24890983;T/G missense_variant False SLC5A11@p.D561E 1 0.25 ENSG00000158865 chr16:24910338-24910338;C/A missense_variant False SLC5A10@p.W167L 1 0.477272727 ENSG00000154025 chr17:18969098-18969098;G/T missense_variant False SLC5A10@p.S383C 1 0.468085106 ENSG00000154025 chr17:19015106-19015106;C/G missense_variant False SLC5A10@p.R366Q 1 0.456521739 ENSG00000154025 chr17:19015055-19015055;G/A missense_variant False SLC4A8@p.E277K 1 0.348314607 ENSG00000050438 chr12:51458624-51458624;G/A missense_variant False SLC4A8@p.E127Q 1 0.11 ENSG00000050438 chr12:51452225-51452225;G/C missense_variant False SLC4A8@p.D145H 1 0.057142857 ENSG00000050438 chr12:51453558-51453558;G/C missense_variant False SLC4A3@p.S158L 1 0.714285714 ENSG00000114923 chr2:219629399-219629399;C/T missense_variant False SLC4A4@p.S157R 1 0.058823529 ENSG00000080493 chr4:71349993-71349993;T/G missense_variant False SLC4A4@p.P787L 1 0.333333333 ENSG00000080493 chr4:71534306-71534306;C/T missense_variant False SLC4A4@p.M415I 1 0.458333333 ENSG00000080493 chr4:71451224-71451224;G/A missense_variant False SLC4A4@p.L838F 1 0.15 ENSG00000080493 chr4:71546419-71546419;C/T missense_variant False SLC4A4@p.K203R 1 0.626373626 ENSG00000080493 chr4:71357065-71357065;A/G missense_variant False SLC4A3@p.T1007R 1 0.3 ENSG00000114923 chr2:219638866-219638866;C/G missense_variant False SLC4A3@p.K109N 1 0.523809524 ENSG00000114923 chr2:219629253-219629253;G/C missense_variant False SLC4A8@p.A384V 1 0.177083333 ENSG00000050438 chr12:51462359-51462359;C/T missense_variant False SLC4A3@p.E881K 1 0.262135922 ENSG00000114923 chr2:219637686-219637686;G/A missense_variant False SLC4A3@p.E356K 1 0.5 ENSG00000114923 chr2:219632367-219632367;G/A missense_variant False SLC4A3@p.E121K 1 0.419354839 ENSG00000114923 chr2:219629287-219629287;G/A missense_variant False SLC4A2@p.P91S 1 0.413043478 ENSG00000164889 chr7:151064579-151064579;C/T missense_variant False SLC4A2@p.P102Qfs*143 1 0.3671875 ENSG00000164889 chr7:151064611-151064611;C/- frameshift_variant False SLC4A2@p.F436L 1 0.083333333 ENSG00000164889 chr7:151070205-151070205;C/G missense_variant False SLC4A4@p.S219Y 1 0.481707317 ENSG00000080493 chr4:71357113-71357113;C/A missense_variant False SLC4A4@p.V770I 1 0.377358491 ENSG00000080493 chr4:71534254-71534254;G/A missense_variant False SLC4A5@p.A776S 1 0.677419355 ENSG00000188687 chr2:74235208-74235208;C/A missense_variant False SLC4A5@p.E116K 1 0.333333333 ENSG00000188687 chr2:74285828-74285828;C/T missense_variant False SLC4A5@p.E396K 1 0.153846154 ENSG00000188687 chr2:74253056-74253056;C/T missense_variant False SLC4A5@p.G730R 1 0.310344828 ENSG00000188687 chr2:74239466-74239466;C/T missense_variant False SLC4A5@p.I525M 1 0.157894737 ENSG00000188687 chr2:74250421-74250421;G/C missense_variant False SLC4A5@p.K56T 1 0.155555556 ENSG00000188687 chr2:74304593-74304593;T/G missense_variant False SLC4A5@p.R362H 1 0.191721133 ENSG00000188687 chr2:74254647-74254647;C/T missense_variant False SLC4A5@p.R634H 1 0.100436681 ENSG00000188687 chr2:74247194-74247194;C/T missense_variant False SLC4A7@p.D602N 1 0.074626866 ENSG00000033867 chr3:27409466-27409466;C/T missense_variant False SLC4A7@p.E1200Q 1 0.218181818 ENSG00000033867 chr3:27376811-27376811;C/G missense_variant False SLC4A7@p.H983Y 1 0.198275862 ENSG00000033867 chr3:27394661-27394661;G/A missense_variant False SLC4A7@p.K8N 1 0.514285714 ENSG00000033867 chr3:27456660-27456660;C/A missense_variant False SLC4A7@p.L280F 1 0.142857143 ENSG00000033867 chr3:27431583-27431583;G/A missense_variant False SLC4A7@p.Q931E 1 0.235294118 ENSG00000033867 chr3:27395001-27395001;G/C missense_variant False SLC4A7@p.R637T 1 0.03030303 ENSG00000033867 chr3:27409360-27409360;C/G missense_variant False SLC5A2@p.R139H 1 0.459459459 ENSG00000140675 chr16:31485841-31485841;G/A missense_variant False SLC5A2@p.R257G 1 0.108695652 ENSG00000140675 chr16:31487643-31487643;C/G missense_variant False SLC5A3@p.D256N 1 0.154761905 ENSG00000198743 chr21:34095964-34095964;G/A missense_variant False SLC6A11@p.H631R 1 0.438356164 ENSG00000132164 chr3:10938395-10938395;A/G missense_variant False SLC6A12@p.M488I 1 0.516666667 ENSG00000111181 chr12:193343-193343;C/T missense_variant False SLC6A12@p.I320S 1 0.104166667 ENSG00000111181 chr12:197493-197493;A/C missense_variant False SLC6A12@p.I228M 1 0.409448819 ENSG00000111181 chr12:200678-200678;G/C missense_variant False SLC6A12@p.F384L 1 0.147826087 ENSG00000111181 chr12:196806-196806;G/C missense_variant False SLC6A12@p.A366T 1 0.273504274 ENSG00000111181 chr12:196862-196862;C/T missense_variant False SLC6A11@p.L587M 1 0.131578947 ENSG00000132164 chr3:10938262-10938262;T/A missense_variant False SLC6A11@p.G433S 1 0.731601732 ENSG00000132164 chr3:10929265-10929265;G/A missense_variant False SLC66A1@p.E240K 1 0.263157895 ENSG00000040487 chr1:19327326-19327326;G/A missense_variant False SLC6A11@p.E49K 1 0.1875 ENSG00000132164 chr3:10816410-10816410;G/A missense_variant False SLC6A11@p.E369K 1 0.225 ENSG00000132164 chr3:10918438-10918438;G/A missense_variant False SLC66A3@p.W112C 1 0.263157895 ENSG00000162976 chr2:11164243-11164243;G/C missense_variant False SLC66A3@p.G143E 1 0.235294118 ENSG00000162976 chr2:11171998-11171998;G/A missense_variant False SLC66A2@p.F137L 1 0.256410256 ENSG00000122490 chr18:79919381-79919381;G/C missense_variant False SLC66A1@p.S218C 1 0.101851852 ENSG00000040487 chr1:19327261-19327261;C/G missense_variant False SLC6A12@p.S173L 1 0.207317073 ENSG00000111181 chr12:201822-201822;G/A missense_variant False SLC6A13@p.A136T 1 0.384615385 ENSG00000010379 chr12:242686-242686;C/T missense_variant False SLC6A13@p.P490S 1 0.5 ENSG00000010379 chr12:222579-222579;G/A missense_variant False SLC6A14@p.D623N 1 0.303370787 ENSG00000268104 chrX:116458893-116458893;G/A missense_variant False SLC6A14@p.I597V 1 0.92 ENSG00000268104 chrX:116458815-116458815;A/G missense_variant False SLC6A14@p.L270R 1 0.100840336 ENSG00000268104 chrX:116446760-116446760;T/G missense_variant False SLC6A14@p.L416F 1 0.717948718 ENSG00000268104 chrX:116453103-116453103;C/T missense_variant False SLC6A14@p.S146Y 1 0.965517241 ENSG00000268104 chrX:116442777-116442777;C/A missense_variant False SLC6A15@p.A348S 1 0.121212121 ENSG00000072041 chr12:84873154-84873154;C/A missense_variant False SLC6A15@p.D15N 1 0.164948454 ENSG00000072041 chr12:84892078-84892078;C/T missense_variant False SLC6A15@p.D22H 1 0.394618834 ENSG00000072041 chr12:84892057-84892057;C/G missense_variant False SLC6A15@p.D672N 1 0.171122995 ENSG00000072041 chr12:84861811-84861811;C/T missense_variant False SLC6A15@p.E416K 1 0.421052632 ENSG00000072041 chr12:84872658-84872658;C/T missense_variant False SLC6A15@p.L100V 1 0.111111111 ENSG00000072041 chr12:84886060-84886060;G/C missense_variant False SLC6A15@p.L704V 1 0.228346457 ENSG00000072041 chr12:84861715-84861715;G/C missense_variant False SLC6A15@p.P688A 1 0.077777778 ENSG00000072041 chr12:84861763-84861763;G/C missense_variant False SLC6A15@p.R640C 1 0.419354839 ENSG00000072041 chr12:84861907-84861907;G/A missense_variant False SLC66A1@p.L148Q 1 0.2 ENSG00000040487 chr1:19326305-19326305;T/A missense_variant False SLC5A9@p.R357I 1 0.5 ENSG00000117834 chr1:48233691-48233691;G/T missense_variant False SLC5A3@p.D497H 1 0.194029851 ENSG00000198743 chr21:34096687-34096687;G/C missense_variant False SLC5A4@p.P7H 1 0.233983287 ENSG00000100191 chr22:32255310-32255310;G/T missense_variant False SLC5A6@p.G405V 1 0.165354331 ENSG00000138074 chr2:27202874-27202874;C/A missense_variant False SLC5A5@p.T274I 1 0.3 ENSG00000105641 chr19:17877845-17877845;C/T missense_variant False SLC5A5@p.Q267K 1 0.584615385 ENSG00000105641 chr19:17877823-17877823;C/A missense_variant False SLC5A5@p.K382N 1 0.34939759 ENSG00000105641 chr19:17882047-17882047;A/T missense_variant False SLC5A5@p.E122Q 1 0.107142857 ENSG00000105641 chr19:17874144-17874144;G/C missense_variant False SLC5A5@p.D311N 1 0.551724138 ENSG00000105641 chr19:17878055-17878055;G/A missense_variant False SLC5A4@p.G53S 1 0.442857143 ENSG00000100191 chr22:32254192-32254192;C/T missense_variant False SLC5A9@p.P138S 1 0.225352113 ENSG00000117834 chr1:48229367-48229367;C/T missense_variant False SLC5A4@p.G174E 1 0.264705882 ENSG00000100191 chr22:32239047-32239047;C/T missense_variant False SLC5A4@p.E589K 1 0.390977444 ENSG00000100191 chr22:32220923-32220923;C/T missense_variant False SLC5A3@p.S342R 1 0.518072289 ENSG00000198743 chr21:34096222-34096222;A/C missense_variant False SLC5A3@p.R343T 1 0.107692308 ENSG00000198743 chr21:34096226-34096226;G/C missense_variant False SLC5A3@p.M192I 1 0.45631068 ENSG00000198743 chr21:34095774-34095774;G/A missense_variant False SLC5A3@p.F456L 1 0.23655914 ENSG00000198743 chr21:34096566-34096566;C/G missense_variant False SLC5A6@p.Q330E 1 0.150537634 ENSG00000138074 chr2:27204478-27204478;G/C missense_variant False SLC5A6@p.S39C 1 0.2 ENSG00000138074 chr2:27207535-27207535;G/C missense_variant False SLC5A7@p.D411H 1 0.4125 ENSG00000115665 chr2:108010349-108010349;G/C missense_variant False SLC5A7@p.E36K 1 0.136363636 ENSG00000115665 chr2:107988261-107988261;G/A missense_variant False SLC5A7@p.E73K 1 0.389473684 ENSG00000115665 chr2:107992144-107992144;G/A missense_variant False SLC5A7@p.L192V 1 0.25 ENSG00000115665 chr2:107997963-107997963;C/G missense_variant False SLC5A7@p.L52S 1 0.286956522 ENSG00000115665 chr2:107988310-107988310;T/C missense_variant False SLC5A7@p.R446T 1 0.184210526 ENSG00000115665 chr2:108010455-108010455;G/C missense_variant False SLC5A8@p.A318T 1 0.185185185 ENSG00000256870 chr12:101187397-101187397;C/T missense_variant False SLC5A8@p.G457R 1 0.392857143 ENSG00000256870 chr12:101166651-101166651;C/T missense_variant False SLC5A8@p.N155K 1 0.392857143 ENSG00000256870 chr12:101202168-101202168;A/T missense_variant False SLC5A8@p.P590S 1 0.15625 ENSG00000256870 chr12:101157344-101157344;G/A missense_variant False SLC5A8@p.T244A 1 0.218045113 ENSG00000256870 chr12:101190571-101190571;T/C missense_variant False SLC5A9@p.G16R 1 0.230769231 ENSG00000117834 chr1:48222782-48222782;G/A missense_variant False SLC5A9@p.G223E 1 0.243243243 ENSG00000117834 chr1:48231602-48231602;G/A missense_variant False SLC5A9@p.I167V 1 0.078125 ENSG00000117834 chr1:48229454-48229454;A/G missense_variant False SLC5A9@p.M427I 1 0.123076923 ENSG00000117834 chr1:48235868-48235868;G/A missense_variant False SLC4A2@p.E133K 1 0.194805195 ENSG00000164889 chr7:151064705-151064705;G/A missense_variant False SLC4A1AP@p.R6S 1 0.193548387 ENSG00000163798 chr2:27663768-27663768;C/A missense_variant False SLC4A1AP@p.G421R 1 0.046666667 ENSG00000163798 chr2:27669303-27669303;G/C missense_variant False SLC41A2@p.S496F 1 0.25 ENSG00000136052 chr12:104844521-104844521;G/A missense_variant False SLC43A2@p.F454L 1 0.128205128 ENSG00000167703 chr17:1578312-1578312;G/T missense_variant False SLC43A2@p.D254Y 1 0.491803279 ENSG00000167703 chr17:1591440-1591440;C/A missense_variant False SLC43A1@p.V455A 1 0.39 ENSG00000149150 chr11:57488961-57488961;A/G missense_variant False SLC43A1@p.S405C 1 0.259433962 ENSG00000149150 chr11:57489372-57489372;G/C missense_variant False SLC41A3@p.Q353H 1 0.53968254 ENSG00000114544 chr3:126012661-126012661;C/G missense_variant False SLC41A3@p.E397Q 1 0.146067416 ENSG00000114544 chr3:126008797-126008797;C/G missense_variant False SLC41A2@p.S290C 1 0.548387097 ENSG00000136052 chr12:104889044-104889044;G/C missense_variant False SLC3A1@p.S420C 1 0.113924051 ENSG00000138079 chr2:44304265-44304265;C/G missense_variant False SLC41A2@p.N423T 1 0.519230769 ENSG00000136052 chr12:104845962-104845962;T/G missense_variant False SLC41A2@p.H87N 1 0.701754386 ENSG00000136052 chr12:104928269-104928269;G/T missense_variant False SLC41A2@p.A555P 1 0.356164384 ENSG00000136052 chr12:104805211-104805211;C/G missense_variant False SLC41A1@p.S19F 1 0.366666667 ENSG00000133065 chr1:205810386-205810386;G/A missense_variant False SLC41A1@p.N252T 1 0.597014925 ENSG00000133065 chr1:205798758-205798758;T/G missense_variant False SLC41A1@p.G382A 1 0.25 ENSG00000133065 chr1:205795406-205795406;C/G missense_variant False SLC43A2@p.L294Rfs*11 1 0.219178082 ENSG00000167703 chr17:1591321-1591322;-/GT frameshift_variant False SLC43A2@p.L294V 1 0.525 ENSG00000167703 chr17:1591320-1591320;G/C missense_variant False SLC43A2@p.P195L 1 0.5 ENSG00000167703 chr17:1593197-1593197;G/A missense_variant False SLC43A2@p.S189P 1 0.111111111 ENSG00000167703 chr17:1593216-1593216;A/G missense_variant False SLC44A1@p.R434C 1 0.379310345 ENSG00000070214 chr9:105365529-105365529;C/T missense_variant False SLC44A2@p.A473V 1 0.519230769 ENSG00000129353 chr19:10636507-10636507;C/T missense_variant False SLC44A2@p.E151K 1 0.326086957 ENSG00000129353 chr19:10631484-10631484;G/A missense_variant False SLC44A2@p.E192K 1 0.318181818 ENSG00000129353 chr19:10631697-10631697;G/A missense_variant False SLC44A2@p.E216Q 1 0.175 ENSG00000129353 chr19:10631887-10631887;G/C missense_variant False SLC44A2@p.E226K 1 0.31 ENSG00000129353 chr19:10631917-10631917;G/A missense_variant False SLC44A2@p.E226Q 1 0.060869565 ENSG00000129353 chr19:10631917-10631917;G/C missense_variant False SLC44A2@p.E418K 1 0.253521127 ENSG00000129353 chr19:10636341-10636341;G/A missense_variant False SLC44A2@p.E533V 1 0.144144144 ENSG00000129353 chr19:10637650-10637650;A/T missense_variant False SLC44A2@p.F255L 1 0.052980132 ENSG00000129353 chr19:10632098-10632098;C/A missense_variant False SLC44A2@p.F536S 1 0.466666667 ENSG00000129353 chr19:10637659-10637659;T/C missense_variant False SLC44A2@p.R339K 1 0.213836478 ENSG00000129353 chr19:10635034-10635034;G/A missense_variant False SLC44A2@p.S292F 1 0.614906832 ENSG00000129353 chr19:10634807-10634807;C/T missense_variant False SLC3A2@p.R247L 1 0.125 ENSG00000168003 chr11:62881905-62881905;G/T missense_variant False SLC39A9@p.E235K 1 0.375 ENSG00000029364 chr14:69458372-69458372;G/A missense_variant False SLC44A3@p.N196H 1 0.435185185 ENSG00000143036 chr1:94837787-94837787;A/C missense_variant False SLC39A1@p.S299F 1 0.105919003 ENSG00000143570 chr1:153960177-153960177;G/A missense_variant False SLC39A3@p.S23F 1 0.137931034 ENSG00000141873 chr19:2737190-2737190;G/A missense_variant False SLC39A3@p.S23C 1 0.105263158 ENSG00000141873 chr19:2737190-2737190;G/C missense_variant False SLC39A3@p.A233V 1 0.291666667 ENSG00000141873 chr19:2732998-2732998;G/A missense_variant False SLC39A2@p.P128L 1 0.130434783 ENSG00000165794 chr14:21001032-21001032;C/T missense_variant False SLC39A2@p.G298S 1 0.292682927 ENSG00000165794 chr14:21001541-21001541;G/A missense_variant False SLC39A2@p.E286Q 1 0.227272727 ENSG00000165794 chr14:21001505-21001505;G/C missense_variant False SLC39A1@p.R204W 1 0.517241379 ENSG00000143570 chr1:153960463-153960463;G/A missense_variant False SLC39A8@p.S135L 1 0.06626506 ENSG00000138821 chr4:102307584-102307584;G/A missense_variant False SLC39A1@p.E276Q 1 0.537037037 ENSG00000143570 chr1:153960247-153960247;C/G missense_variant False SLC39A1@p.C248S 1 0.777777778 ENSG00000143570 chr1:153960331-153960331;A/T missense_variant False SLC39A13@p.R64W 1 0.35483871 ENSG00000165915 chr11:47410284-47410284;C/T missense_variant False SLC39A12@p.Y369H 1 0.444444444 ENSG00000148482 chr10:17987487-17987487;T/C missense_variant False SLC39A12@p.S8L 1 0.04845815 ENSG00000148482 chr10:17953299-17953299;C/T missense_variant False SLC39A12@p.S229F 1 0.217391304 ENSG00000148482 chr10:17965625-17965625;C/T missense_variant False SLC39A4@p.D504N 1 0.375 ENSG00000147804 chr8:144413354-144413354;C/T missense_variant False SLC39A4@p.E586K 1 0.0875 ENSG00000147804 chr8:144412818-144412818;C/T missense_variant False SLC39A5@p.C258R 1 0.600961538 ENSG00000139540 chr12:56235294-56235294;T/C missense_variant False SLC39A5@p.Q344_A346del 1 0.258064516 ENSG00000139540 chr12:56236480-56236488;CAGGCAGCT/- inframe_deletion False SLC39A5@p.R311P 1 0.308270677 ENSG00000139540 chr12:56235687-56235687;G/C missense_variant False SLC39A6@p.E392K 1 0.113402062 ENSG00000141424 chr18:36122237-36122237;C/T missense_variant False SLC39A6@p.H680Y 1 0.333333333 ENSG00000141424 chr18:36111136-36111136;G/A missense_variant False SLC39A6@p.L348F 1 0.19047619 ENSG00000141424 chr18:36123593-36123593;G/A missense_variant False SLC39A6@p.L626F 1 0.396226415 ENSG00000141424 chr18:36112547-36112547;T/A missense_variant False SLC39A6@p.T285I 1 0.514285714 ENSG00000141424 chr18:36124636-36124636;G/A missense_variant False SLC39A7@p.E438K 1 0.408 ENSG00000112473 chr6:33203715-33203715;G/A missense_variant False SLC39A7@p.K288N 1 0.136363636 ENSG00000112473 chr6:33202624-33202624;G/C missense_variant False SLC39A7@p.Q170H 1 0.17 ENSG00000112473 chr6:33201843-33201843;G/C missense_variant False SLC39A7@p.R268H 1 0.152380952 ENSG00000112473 chr6:33202563-33202563;G/A missense_variant False SLC39A7@p.R382C 1 0.117647059 ENSG00000112473 chr6:33203547-33203547;C/T missense_variant False SLC39A7@p.W222S 1 0.386554622 ENSG00000112473 chr6:33202293-33202293;G/C missense_variant False SLC39A8@p.K160N 1 0.346153846 ENSG00000138821 chr4:102307508-102307508;C/A missense_variant False SLC44A3@p.L84V 1 0.220472441 ENSG00000143036 chr1:94824607-94824607;C/G missense_variant False SLC44A3@p.Q132R 1 0.064516129 ENSG00000143036 chr1:94827623-94827623;A/G missense_variant False SLC4A1AP@p.D390E 1 0.315217391 ENSG00000163798 chr2:27668868-27668868;T/G missense_variant False SLC49A3@p.E363Q 1 0.090909091 ENSG00000169026 chr4:683277-683277;C/G missense_variant False SLC4A10@p.D1036H 1 0.188679245 ENSG00000144290 chr2:161965120-161965120;G/C missense_variant False SLC49A4@p.T246S 1 0.118483412 ENSG00000138463 chr3:122833349-122833349;A/T missense_variant False SLC49A4@p.R275T 1 0.483146067 ENSG00000138463 chr3:122833437-122833437;G/C missense_variant False SLC49A4@p.L214V 1 0.273743017 ENSG00000138463 chr3:122827002-122827002;C/G missense_variant False SLC49A3@p.R402Q 1 0.4 ENSG00000169026 chr4:682840-682840;C/T missense_variant False SLC49A3@p.H550Y 1 0.236842105 ENSG00000169026 chr4:681993-681993;G/A missense_variant False SLC49A3@p.E216D 1 0.64516129 ENSG00000169026 chr4:684794-684794;C/A missense_variant False SLC46A3@p.G338R 1 0.298701299 ENSG00000139508 chr13:28712728-28712728;C/G missense_variant False SLC47A2@p.S90L 1 0.210843373 ENSG00000180638 chr17:19714746-19714746;G/A missense_variant False SLC47A2@p.L117Gfs*88 1 0.208053691 ENSG00000180638 chr17:19713919-19713920;GC/- frameshift_variant False SLC47A1@p.Q295E 1 0.175438596 ENSG00000142494 chr17:19556024-19556024;C/G missense_variant False SLC47A1@p.F554L 1 0.479289941 ENSG00000142494 chr17:19577502-19577502;C/G missense_variant False SLC47A1@p.E499K 1 0.162790698 ENSG00000142494 chr17:19577335-19577335;G/A missense_variant False SLC46A3@p.R257Q 1 0.243243243 ENSG00000139508 chr13:28712970-28712970;C/T missense_variant False SLC4A10@p.D1063H 1 0.088235294 ENSG00000144290 chr2:161974276-161974276;G/C missense_variant False SLC4A10@p.E133K 1 0.818181818 ENSG00000144290 chr2:161839908-161839908;G/A missense_variant False SLC4A10@p.E419Q 1 0.090909091 ENSG00000144290 chr2:161894739-161894739;G/C missense_variant False SLC4A10@p.H656R 1 0.083333333 ENSG00000144290 chr2:161905857-161905857;A/G missense_variant False SLC4A10@p.H884Y 1 0.161290323 ENSG00000144290 chr2:161957097-161957097;C/T missense_variant False SLC4A10@p.M991I 1 0.137931034 ENSG00000144290 chr2:161964245-161964245;G/A missense_variant False SLC4A10@p.R46Q 1 0.387755102 ENSG00000144290 chr2:161804455-161804455;G/A missense_variant False SLC4A11@p.F354L 1 0.091891892 ENSG00000088836 chr20:3231177-3231177;G/T missense_variant False SLC4A11@p.F628L 1 0.116666667 ENSG00000088836 chr20:3229359-3229359;G/T missense_variant False SLC4A11@p.R153Q 1 0.365517241 ENSG00000088836 chr20:3234196-3234196;C/T missense_variant False SLC4A11@p.R157C 1 0.205479452 ENSG00000088836 chr20:3234185-3234185;G/A missense_variant False SLC4A11@p.R875Q 1 0.1875 ENSG00000088836 chr20:3227839-3227839;C/T missense_variant False SLC4A1@p.G270E 1 0.139240506 ENSG00000004939 chr17:44259230-44259230;C/T missense_variant False SLC4A1@p.L121P 1 0.21875 ENSG00000004939 chr17:44260527-44260527;A/G missense_variant False SLC4A1@p.T422N 1 0.451612903 ENSG00000004939 chr17:44258003-44258003;G/T missense_variant False SLC4A1AP@p.D225N 1 0.12962963 ENSG00000163798 chr2:27664425-27664425;G/A missense_variant False SLC4A1AP@p.D331Y 1 0.161971831 ENSG00000163798 chr2:27665265-27665265;G/T missense_variant False SLC46A3@p.G405E 1 0.511111111 ENSG00000139508 chr13:28704030-28704030;C/T missense_variant False SLC46A2@p.T50I 1 0.547619048 ENSG00000119457 chr9:112890533-112890533;G/A missense_variant False SLC44A3@p.R653T 1 0.397058824 ENSG00000143036 chr1:94894918-94894918;G/C missense_variant False SLC45A1@p.A687S 1 0.253164557 ENSG00000162426 chr1:8343825-8343825;G/T missense_variant False SLC45A1@p.Q81H 1 0.227272727 ENSG00000162426 chr1:8324572-8324572;G/C missense_variant False SLC45A1@p.P295L 1 0.128205128 ENSG00000162426 chr1:8330377-8330377;C/T missense_variant False SLC45A1@p.L690V 1 0.26 ENSG00000162426 chr1:8343834-8343834;C/G missense_variant False SLC45A1@p.G619R 1 0.285714286 ENSG00000162426 chr1:8339573-8339573;G/C missense_variant False SLC45A1@p.E98Q 1 0.409090909 ENSG00000162426 chr1:8324621-8324621;G/C missense_variant False SLC45A1@p.D220N 1 0.283687943 ENSG00000162426 chr1:8325985-8325985;G/A missense_variant False SLC45A1@p.A274E 1 0.336956522 ENSG00000162426 chr1:8330314-8330314;C/A missense_variant False SLC46A2@p.Q71H 1 0.43627451 ENSG00000119457 chr9:112890469-112890469;C/G missense_variant False SLC44A5@p.S197T 1 0.3 ENSG00000137968 chr1:75238579-75238579;C/G missense_variant False SLC44A5@p.P11S 1 0.546099291 ENSG00000137968 chr1:75396604-75396604;G/A missense_variant False SLC44A5@p.M275I 1 0.215384615 ENSG00000137968 chr1:75234014-75234014;C/T missense_variant False SLC44A4@p.P176S 1 0.321428571 ENSG00000204385 chr6:31874463-31874463;G/A missense_variant False SLC44A4@p.N99S 1 0.4 ENSG00000204385 chr6:31874975-31874975;T/C missense_variant False SLC44A4@p.N699I 1 0.404761905 ENSG00000204385 chr6:31863664-31863664;T/A missense_variant False SLC45A1@p.S499F 1 0.321428571 ENSG00000162426 chr1:8335489-8335489;C/T missense_variant False SLC45A2@p.E368K 1 0.439490446 ENSG00000164175 chr5:33951608-33951608;C/T missense_variant False SLC45A2@p.H316Y 1 0.173333333 ENSG00000164175 chr5:33954447-33954447;G/A missense_variant False SLC45A3@p.D153N 1 0.461538462 ENSG00000158715 chr1:205663334-205663334;C/T missense_variant False SLC45A3@p.D491Y 1 0.297297297 ENSG00000158715 chr1:205659425-205659425;C/A missense_variant False SLC45A3@p.M53I 1 0.29389313 ENSG00000158715 chr1:205664498-205664498;C/T missense_variant False SLC45A3@p.R269H 1 0.583333333 ENSG00000158715 chr1:205662985-205662985;C/T missense_variant False SLC45A4@p.A443T 1 0.054347826 ENSG00000022567 chr8:141218313-141218313;C/T missense_variant False SLC45A4@p.D319N 1 0.317829457 ENSG00000022567 chr8:141218685-141218685;C/T missense_variant False SLC45A4@p.E286K 1 0.181818182 ENSG00000022567 chr8:141218784-141218784;C/T missense_variant False SLC46A1@p.H248Q 1 0.158139535 ENSG00000076351 chr17:28404953-28404953;G/C missense_variant False SLC46A1@p.M89I 1 0.615384615 ENSG00000076351 chr17:28405430-28405430;C/A missense_variant False SLC46A1@p.R180W 1 0.333333333 ENSG00000076351 chr17:28405159-28405159;G/A missense_variant False SLC46A1@p.S164N 1 0.380952381 ENSG00000076351 chr17:28405206-28405206;C/T missense_variant False SLC46A1@p.Y57S 1 0.153846154 ENSG00000076351 chr17:28405945-28405945;T/G missense_variant False SLC46A2@p.A276Qfs*28 1 0.245614035 ENSG00000119457 chr9:112889857-112889857;T/- frameshift_variant False SLC46A2@p.I79M 1 0.432926829 ENSG00000119457 chr9:112890445-112890445;A/C missense_variant False SLC6A15@p.R696Q 1 0.6 ENSG00000072041 chr12:84861738-84861738;C/T missense_variant False SLC6A16@p.E222D 1 0.506493506 ENSG00000063127 chr19:49310074-49310074;C/A missense_variant False SLFN11@p.E345Q 1 0.310679612 ENSG00000172716 chr17:35362775-35362775;C/G missense_variant False SLC9C2@p.A448P 1 0.307692308 ENSG00000162753 chr1:173548508-173548508;C/G missense_variant False SLC9C2@p.M936I 1 0.103448276 ENSG00000162753 chr1:173517636-173517636;C/A missense_variant False SLC9C2@p.I549M 1 0.107843137 ENSG00000162753 chr1:173536950-173536950;G/C missense_variant False SLC9C2@p.H602D 1 0.107142857 ENSG00000162753 chr1:173534654-173534654;G/C missense_variant False SLC9C2@p.G200Wfs*14 1 0.228571429 ENSG00000162753 chr1:173583548-173583549;-/A frameshift_variant False SLC9C2@p.F5L 1 0.066666667 ENSG00000162753 chr1:173601762-173601762;G/T missense_variant False SLC9C2@p.E484K 1 0.464788732 ENSG00000162753 chr1:173548400-173548400;C/T missense_variant False SLC9C1@p.S672Tfs*22 1 0.271966527 ENSG00000172139 chr3:112204376-112204377;AA/- frameshift_variant False SLC9C2@p.S97L 1 0.11627907 ENSG00000162753 chr1:173597971-173597971;G/A missense_variant False SLC9C1@p.S11G 1 0.181818182 ENSG00000172139 chr3:112286761-112286761;T/C missense_variant False SLC9C1@p.R578K 1 0.06 ENSG00000172139 chr3:112217499-112217499;C/T missense_variant False SLC9C1@p.M997Nfs*21 1 0.151898734 ENSG00000172139 chr3:112169258-112169259;-/T frameshift_variant False SLC9C1@p.M470I 1 0.260869565 ENSG00000172139 chr3:112239876-112239876;C/G missense_variant False SLC9C1@p.L292F 1 0.151515152 ENSG00000172139 chr3:112266242-112266242;G/A missense_variant False SLC9C1@p.L126V 1 0.22556391 ENSG00000172139 chr3:112277803-112277803;G/C missense_variant False SLC9C2@p.R738C 1 0.563636364 ENSG00000162753 chr1:173530006-173530006;G/A missense_variant False SLCO1A2@p.E293K 1 0.181818182 ENSG00000084453 chr12:21300381-21300381;C/T missense_variant False SLC6A16@p.E96Q 1 0.238461538 ENSG00000063127 chr19:49311062-49311062;C/G missense_variant False SLCO1B1@p.E12Q 1 0.301587302 ENSG00000134538 chr12:21141608-21141608;G/C missense_variant False SLCO1B1@p.S194C 1 0.363636364 ENSG00000134538 chr12:21178675-21178675;C/G missense_variant False SLCO1B1@p.N476S 1 0.208955224 ENSG00000134538 chr12:21205963-21205963;A/G missense_variant False SLCO1B1@p.L670I 1 0.2 ENSG00000134538 chr12:21239121-21239121;T/A missense_variant False SLCO1B1@p.G627V 1 0.177777778 ENSG00000134538 chr12:21238993-21238993;G/T missense_variant False SLCO1B1@p.E667K 1 0.216216216 ENSG00000134538 chr12:21239112-21239112;G/A missense_variant False SLCO1B1@p.E60D 1 0.217391304 ENSG00000134538 chr12:21172745-21172745;G/C missense_variant False SLCO1A2@p.W393L 1 0.139534884 ENSG00000084453 chr12:21295690-21295690;C/A missense_variant False SLCO1A2@p.L57P 1 0.080717489 ENSG00000084453 chr12:21318814-21318814;A/G missense_variant False SLCO1A2@p.V58Lfs*15 1 0.375 ENSG00000084453 chr12:21318813-21318813;T/- frameshift_variant False SLCO1A2@p.V220D 1 0.116788321 ENSG00000084453 chr12:21301200-21301200;A/T missense_variant False SLCO1A2@p.S545Y 1 0.357142857 ENSG00000084453 chr12:21275401-21275401;G/T missense_variant False SLCO1A2@p.S517L 1 0.224489796 ENSG00000084453 chr12:21292224-21292224;G/A missense_variant False SLCO1A2@p.S413F 1 0.472440945 ENSG00000084453 chr12:21295630-21295630;G/A missense_variant False SLCO1A2@p.L622I 1 0.104972376 ENSG00000084453 chr12:21269697-21269697;G/T missense_variant False SLC9C1@p.I633K 1 0.152380952 ENSG00000172139 chr3:112208266-112208266;A/T missense_variant False SLC9B2@p.P23H 1 0.115942029 ENSG00000164038 chr4:103067483-103067483;G/T missense_variant False SLC9B2@p.L96R 1 0.466666667 ENSG00000164038 chr4:103057956-103057956;A/C missense_variant False SLC9A4@p.M252R 1 0.128205128 ENSG00000180251 chr2:102503482-102503482;T/G missense_variant False SLC9A5@p.A882Yfs*35 1 0.272727273 ENSG00000135740 chr16:67271162-67271163;CG/- frameshift_variant False SLC9A5@p.A628V 1 0.375 ENSG00000135740 chr16:67264392-67264392;C/T missense_variant False SLC9A4@p.S638N 1 0.205673759 ENSG00000180251 chr2:102525118-102525118;G/A missense_variant False SLC9A4@p.R729T 1 0.076923077 ENSG00000180251 chr2:102532477-102532477;G/C missense_variant False SLC9A4@p.R698Q 1 0.141509434 ENSG00000180251 chr2:102532384-102532384;G/A missense_variant False SLC9A4@p.R430Q 1 0.272727273 ENSG00000180251 chr2:102508169-102508169;G/A missense_variant False SLC9A4@p.L443V 1 0.217391304 ENSG00000180251 chr2:102508207-102508207;C/G missense_variant False SLC9B2@p.K338N 1 0.25 ENSG00000164038 chr4:103043428-103043428;C/G missense_variant False SLC9A4@p.L275I 1 0.403508772 ENSG00000180251 chr2:102503550-102503550;C/A missense_variant False SLC9A4@p.K251N 1 0.107142857 ENSG00000180251 chr2:102503480-102503480;G/C missense_variant False SLC9A4@p.E99Q 1 0.507246377 ENSG00000180251 chr2:102478877-102478877;G/C missense_variant False SLC9A4@p.E621K 1 0.205128205 ENSG00000180251 chr2:102525066-102525066;G/A missense_variant False SLC9A4@p.E506K 1 0.406976744 ENSG00000180251 chr2:102512230-102512230;G/A missense_variant False SLC9A4@p.E492Q 1 0.114503817 ENSG00000180251 chr2:102508919-102508919;G/C missense_variant False SLC9A5@p.S355Y 1 0.948717949 ENSG00000135740 chr16:67256621-67256621;C/A missense_variant False SLC9A5@p.V700Wfs*102 1 0.21875 ENSG00000135740 chr16:67266103-67266103;C/- frameshift_variant False SLC9A6@p.G622E 1 0.55 ENSG00000198689 chrX:136044579-136044579;G/A missense_variant False SLC9A7@p.E658K 1 0.3125 ENSG00000065923 chrX:46607158-46607158;C/T missense_variant False SLC9A7@p.G447R 1 0.833333333 ENSG00000065923 chrX:46651118-46651118;C/T missense_variant False SLC9A7@p.S244L 1 0.761904762 ENSG00000065923 chrX:46669669-46669669;G/A missense_variant False SLC9A8@p.E477K 1 0.234567901 ENSG00000197818 chr20:49884004-49884004;G/A missense_variant False SLC9A8@p.E579Q 1 0.137931034 ENSG00000197818 chr20:49887925-49887925;G/C missense_variant False SLC9A8@p.P374Sfs*4 1 0.191011236 ENSG00000197818 chr20:49878025-49878026;CC/- frameshift_variant False SLC9A8@p.R393T 1 0.197674419 ENSG00000197818 chr20:49880943-49880943;G/C missense_variant False SLC9A8@p.T510A 1 0.49537037 ENSG00000197818 chr20:49886788-49886788;A/G missense_variant False SLC9A9@p.H44N 1 0.298701299 ENSG00000181804 chr3:143848193-143848193;G/T missense_variant False SLC9B1@p.E453K 1 0.15 ENSG00000164037 chr4:102901308-102901308;C/T missense_variant False SLC9B1@p.I166V 1 0.527472527 ENSG00000164037 chr4:102946676-102946676;T/C missense_variant False SLC9B1@p.R157T 1 0.28125 ENSG00000164037 chr4:102946702-102946702;C/G missense_variant False SLC9B1@p.V76A 1 0.2 ENSG00000164037 chr4:102949412-102949412;A/G missense_variant False SLC9B2@p.I168M 1 0.394736842 ENSG00000164038 chr4:103050321-103050321;G/C missense_variant False SLCO1B1@p.S37R 1 0.120689655 ENSG00000134538 chr12:21172676-21172676;C/G missense_variant False SLCO1B3-SLCO1B7@p.T659M 1 0.236220472 ENSG00000257046 chr12:21076497-21076497;C/T missense_variant False SLCO1B3@p.C524S 1 0.068627451 ENSG00000111700 chr12:20883490-20883490;T/A missense_variant False SLCO5A1@p.E444Q 1 0.121212121 ENSG00000137571 chr8:69738133-69738133;C/G missense_variant False SLCO5A1@p.R618Q 1 0.291666667 ENSG00000137571 chr8:69679549-69679549;C/T missense_variant False SLCO5A1@p.L551Q 1 0.184782609 ENSG00000137571 chr8:69682314-69682314;A/T missense_variant False SLCO5A1@p.L273V 1 0.255319149 ENSG00000137571 chr8:69831857-69831857;G/C missense_variant False SLCO5A1@p.K407E 1 0.25 ENSG00000137571 chr8:69755463-69755463;T/C missense_variant False SLCO5A1@p.K383N 1 0.333333333 ENSG00000137571 chr8:69755533-69755533;T/A missense_variant False SLCO5A1@p.K382R 1 0.188405797 ENSG00000137571 chr8:69755537-69755537;T/C missense_variant False SLCO4C1@p.Q96E 1 0.073529412 ENSG00000173930 chr5:102295977-102295977;G/C missense_variant False SLCO4A1@p.S560F 1 0.384615385 ENSG00000101187 chr20:62668052-62668052;C/T missense_variant False SLCO4C1@p.L378F 1 0.279069767 ENSG00000173930 chr5:102258082-102258082;C/G missense_variant False SLCO4C1@p.K703N 1 0.283783784 ENSG00000173930 chr5:102236924-102236924;T/A missense_variant False SLCO4C1@p.G286R 1 0.253164557 ENSG00000173930 chr5:102263727-102263727;C/T missense_variant False SLCO4C1@p.E84Q 1 0.426229508 ENSG00000173930 chr5:102296013-102296013;C/G missense_variant False SLCO4C1@p.E84K 1 0.761904762 ENSG00000173930 chr5:102296013-102296013;C/T missense_variant False SLCO4C1@p.C156R 1 0.8 ENSG00000173930 chr5:102291496-102291496;A/G missense_variant False SLCO5A1@p.R793T 1 0.254237288 ENSG00000137571 chr8:69673038-69673038;C/G missense_variant False SLCO6A1@p.D82H 1 0.326203209 ENSG00000205359 chr5:102498601-102498601;C/G missense_variant False SLCO6A1@p.E715K 1 0.382978723 ENSG00000205359 chr5:102373369-102373369;C/T missense_variant False SLCO6A1@p.F2I 1 0.139705882 ENSG00000205359 chr5:102498841-102498841;A/T missense_variant False SLCO6A1@p.G553V 1 0.5 ENSG00000205359 chr5:102399711-102399711;C/A missense_variant False SLCO6A1@p.S511L 1 0.16 ENSG00000205359 chr5:102413084-102413084;G/A missense_variant False SLF1@p.E1056Q 1 0.06122449 ENSG00000133302 chr5:94695301-94695301;G/C missense_variant False SLF1@p.E683K 1 0.286764706 ENSG00000133302 chr5:94686644-94686644;G/A missense_variant False SLF2@p.A644T 1 0.705882353 ENSG00000119906 chr10:100924931-100924931;G/A missense_variant False SLF2@p.D692Y 1 0.62962963 ENSG00000119906 chr10:100929348-100929348;G/T missense_variant False SLF2@p.I279T 1 0.4 ENSG00000119906 chr10:100917221-100917221;T/C missense_variant False SLF2@p.K1024N 1 0.292035398 ENSG00000119906 chr10:100947799-100947799;G/C missense_variant False SLF2@p.L252F 1 0.139784946 ENSG00000119906 chr10:100917141-100917141;G/C missense_variant False SLF2@p.L310F 1 0.259259259 ENSG00000119906 chr10:100918396-100918396;C/T missense_variant False SLF2@p.L608S 1 0.36 ENSG00000119906 chr10:100924824-100924824;T/C missense_variant False SLF2@p.R169P 1 0.329545455 ENSG00000119906 chr10:100916891-100916891;G/C missense_variant False SLF2@p.R190Q 1 0.387755102 ENSG00000119906 chr10:100916954-100916954;G/A missense_variant False SLCO4A1@p.S696L 1 0.125 ENSG00000101187 chr20:62671811-62671811;C/T missense_variant False SLCO4A1@p.F585L 1 0.282608696 ENSG00000101187 chr20:62668128-62668128;C/A missense_variant False SLCO1B3@p.D687N 1 0.584615385 ENSG00000111700 chr12:20916197-20916197;G/A missense_variant False SLCO1B3@p.R305K 1 0.282828283 ENSG00000111700 chr12:20875421-20875421;G/A missense_variant False SLCO1C1@p.K169Nfs*6 1 0.323943662 ENSG00000139155 chr12:20711484-20711484;A/- frameshift_variant False SLCO1C1@p.H468N 1 0.125 ENSG00000139155 chr12:20737126-20737126;C/A missense_variant False SLCO1C1@p.G282V 1 0.363636364 ENSG00000139155 chr12:20721873-20721873;G/T missense_variant False SLCO1C1@p.G198E 1 0.503816794 ENSG00000139155 chr12:20715202-20715202;G/A missense_variant False SLCO1C1@p.F132S 1 0.395973154 ENSG00000139155 chr12:20706072-20706072;T/C missense_variant False SLCO1B3@p.R633I 1 0.166666667 ENSG00000111700 chr12:20916036-20916036;G/T missense_variant False SLCO1B3@p.Q307E 1 0.202531646 ENSG00000111700 chr12:20875426-20875426;C/G missense_variant False SLCO4A1@p.F443S 1 0.225 ENSG00000101187 chr20:62666431-62666431;T/C missense_variant False SLCO1B3@p.K657R 1 0.451612903 ENSG00000111700 chr12:20916108-20916108;A/G missense_variant False SLCO1B3@p.K41I 1 0.447368421 ENSG00000111700 chr12:20855065-20855065;A/T missense_variant False SLCO1B3@p.F643I 1 0.054347826 ENSG00000111700 chr12:20916065-20916065;T/A missense_variant False SLCO1B3@p.F419L 1 0.127906977 ENSG00000111700 chr12:20879555-20879555;T/C missense_variant False SLCO1B3@p.F117V 1 0.166666667 ENSG00000111700 chr12:20858561-20858561;T/G missense_variant False SLCO1B3@p.E165K 1 0.151515152 ENSG00000111700 chr12:20862423-20862423;G/A missense_variant False SLCO1C1@p.K35Nfs*8 1 0.227272727 ENSG00000139155 chr12:20699681-20699681;G/- frameshift_variant False SLCO1C1@p.L124V 1 0.132947977 ENSG00000139155 chr12:20706047-20706047;C/G missense_variant False SLCO1C1@p.M336L 1 0.357142857 ENSG00000139155 chr12:20722034-20722034;A/T missense_variant False SLCO1C1@p.P268S 1 0.245098039 ENSG00000139155 chr12:20721830-20721830;C/T missense_variant False SLCO1C1@p.S170L 1 0.121621622 ENSG00000139155 chr12:20711490-20711490;C/T missense_variant False SLCO1C1@p.V231F 1 0.12 ENSG00000139155 chr12:20717146-20717146;G/T missense_variant False SLCO2A1@p.G505E 1 0.158469945 ENSG00000174640 chr3:133942716-133942716;C/T missense_variant False SLCO2A1@p.I210M 1 0.53125 ENSG00000174640 chr3:133953757-133953757;G/C missense_variant False SLCO2A1@p.Q42L 1 0.276190476 ENSG00000174640 chr3:133979590-133979590;T/A missense_variant False SLCO2A1@p.S265L 1 0.478873239 ENSG00000174640 chr3:133951275-133951275;G/A missense_variant False SLCO2A1@p.S434L 1 0.222972973 ENSG00000174640 chr3:133945255-133945255;G/A missense_variant False SLCO2B1@p.P35L 1 0.075268817 ENSG00000137491 chr11:75162742-75162742;C/T missense_variant False SLCO3A1@p.C486Wfs*32 1 0.258064516 ENSG00000176463 chr15:92128430-92128431;GT/- frameshift_variant False SLCO3A1@p.E476K 1 0.149068323 ENSG00000176463 chr15:92128403-92128403;G/A missense_variant False SLCO3A1@p.S547N 1 0.255813953 ENSG00000176463 chr15:92147111-92147111;G/A missense_variant False SLCO4A1@p.A188V 1 0.176470588 ENSG00000101187 chr20:62657017-62657017;C/T missense_variant False SLCO4A1@p.E495K 1 0.23943662 ENSG00000101187 chr20:62667755-62667755;G/A missense_variant False SLC9A4@p.E380K 1 0.486111111 ENSG00000180251 chr2:102505411-102505411;G/A missense_variant False SLC9A4@p.D65N 1 0.110671937 ENSG00000180251 chr2:102473952-102473952;G/A missense_variant False SLC9A3R2@p.S280F 1 0.526315789 None chr16:2037584-2037584;C/T missense_variant False SLC6A5@p.I435L 1 0.2375 ENSG00000165970 chr11:20626750-20626750;A/C missense_variant False SLC6A7@p.R574W 1 0.242424242 ENSG00000011083 chr5:150209424-150209424;C/T missense_variant False SLC6A7@p.Q480E 1 0.144444444 ENSG00000011083 chr5:150204832-150204832;C/G missense_variant False SLC6A7@p.G543S 1 0.552 ENSG00000011083 chr5:150205549-150205549;G/A missense_variant False SLC6A6@p.E364K 1 0.161290323 ENSG00000131389 chr3:14468206-14468206;G/A missense_variant False SLC6A6@p.D281H 1 0.105263158 ENSG00000131389 chr3:14466624-14466624;G/C missense_variant False SLC6A5@p.Q473E 1 0.297297297 ENSG00000165970 chr11:20628001-20628001;C/G missense_variant False SLC6A5@p.D322Y 1 0.47706422 ENSG00000165970 chr11:20607631-20607631;G/T missense_variant False SLC6A3@p.R445C 1 0.223880597 ENSG00000142319 chr5:1409786-1409786;G/A missense_variant False SLC6A4@p.T371R 1 0.083333333 ENSG00000108576 chr17:30212832-30212832;G/C missense_variant False SLC6A4@p.S293C 1 0.208333333 ENSG00000108576 chr17:30216176-30216176;G/C missense_variant False SLC6A4@p.S174F 1 0.411764706 ENSG00000108576 chr17:30218295-30218295;G/A missense_variant False SLC6A4@p.Q76E 1 0.115183246 ENSG00000108576 chr17:30221733-30221733;G/C missense_variant False SLC6A4@p.I188M 1 0.214285714 ENSG00000108576 chr17:30218252-30218252;G/C missense_variant False SLC6A4@p.E444Q 1 0.121794872 ENSG00000108576 chr17:30210634-30210634;C/G missense_variant False SLC6A7@p.V198I 1 0.328358209 ENSG00000011083 chr5:150199235-150199235;G/A missense_variant False SLC6A8@p.D296H 1 0.272727273 ENSG00000130821 chrX:153693149-153693149;G/C missense_variant False SLC6A8@p.D60H 1 0.96 ENSG00000130821 chrX:153688752-153688752;G/C missense_variant False SLC6A8@p.E444D 1 0.954954955 ENSG00000130821 chrX:153694207-153694207;G/T missense_variant False SLC6A9@p.D434Y 1 0.170886076 ENSG00000196517 chr1:44001509-44001509;C/A missense_variant False SLC6A9@p.G20A 1 0.173076923 ENSG00000196517 chr1:44017075-44017075;C/G missense_variant False SLC6A9@p.L111P 1 0.390625 ENSG00000196517 chr1:44010800-44010800;A/G missense_variant False SLC6A9@p.L33F 1 0.223880597 ENSG00000196517 chr1:44011713-44011713;G/A missense_variant False SLC6A9@p.P24T 1 0.195402299 ENSG00000196517 chr1:44017064-44017064;G/T missense_variant False SLC7A10@p.E215Q 1 0.1875 ENSG00000130876 chr19:33212437-33212437;C/G missense_variant False SLC7A10@p.F440L 1 0.107692308 ENSG00000130876 chr19:33209429-33209429;G/T missense_variant False SLC7A10@p.P157S 1 0.364864865 ENSG00000130876 chr19:33212890-33212890;G/A missense_variant False SLC7A10@p.R33W 1 0.290322581 ENSG00000130876 chr19:33225607-33225607;G/A missense_variant False SLC7A10@p.S321C 1 0.239766082 ENSG00000130876 chr19:33211279-33211279;G/C missense_variant False SLC7A11@p.D229H 1 0.146666667 ENSG00000151012 chr4:138219327-138219327;C/G missense_variant False SLC7A14@p.E243K 1 0.245901639 ENSG00000013293 chr3:170498699-170498699;C/T missense_variant False SLC7A14@p.E277D 1 0.1 ENSG00000013293 chr3:170486297-170486297;T/A missense_variant False SLC6A3@p.V535M 1 0.26984127 ENSG00000142319 chr5:1403086-1403086;C/T missense_variant False SLC6A3@p.G289R 1 0.192307692 ENSG00000142319 chr5:1420631-1420631;C/T missense_variant False SLC7A14@p.G238R 1 0.2 ENSG00000013293 chr3:170498714-170498714;C/T missense_variant False SLC6A18@p.D256N 1 0.486111111 ENSG00000164363 chr5:1239483-1239483;G/A missense_variant False SLC6A19@p.S491F 1 0.261904762 ENSG00000174358 chr5:1219598-1219598;C/T missense_variant False SLC6A19@p.P16S 1 0.393939394 ENSG00000174358 chr5:1201696-1201696;C/T missense_variant False SLC6A19@p.I287M 1 0.222222222 ENSG00000174358 chr5:1214039-1214039;C/G missense_variant False SLC6A19@p.F255L 1 0.619047619 ENSG00000174358 chr5:1213564-1213564;C/A missense_variant False SLC6A19@p.E405K 1 0.317460317 ENSG00000174358 chr5:1218942-1218942;G/A missense_variant False SLC6A18@p.E560Q 1 0.125 ENSG00000164363 chr5:1245869-1245869;G/C missense_variant False SLC6A17@p.Q73H 1 0.35483871 ENSG00000197106 chr1:110167148-110167148;G/T missense_variant False SLC6A3@p.G127R 1 0.5 ENSG00000142319 chr5:1441398-1441398;C/T missense_variant False SLC6A17@p.F169L 1 0.136363636 ENSG00000197106 chr1:110174035-110174035;C/G missense_variant False SLC6A17@p.E58K 1 0.238095238 ENSG00000197106 chr1:110167101-110167101;G/A missense_variant False SLC6A17@p.E555K 1 0.152 ENSG00000197106 chr1:110197447-110197447;G/A missense_variant False SLC6A16@p.P687S 1 0.126760563 ENSG00000063127 chr19:49290275-49290275;G/A missense_variant False SLC6A16@p.L156V 1 0.533333333 ENSG00000063127 chr19:49310460-49310460;G/C missense_variant False SLC6A16@p.K253Rfs*94 1 0.11627907 ENSG00000063127 chr19:49309762-49309769;TGAGGCCT/- frameshift_variant False SLC6A19@p.S504C 1 0.472222222 ENSG00000174358 chr5:1219637-1219637;C/G missense_variant False SLC6A19@p.V125M 1 0.115384615 ENSG00000174358 chr5:1210473-1210473;G/A missense_variant False SLC6A1@p.E19K 1 0.523076923 ENSG00000157103 chr3:11017266-11017266;G/A missense_variant False SLC6A1@p.E266K 1 0.430555556 ENSG00000157103 chr3:11025530-11025530;G/A missense_variant False SLC6A1@p.M458I 1 0.267904509 ENSG00000157103 chr3:11031227-11031227;G/C missense_variant False SLC6A1@p.Q12H 1 0.255319149 ENSG00000157103 chr3:11017247-11017247;G/T missense_variant False SLC6A1@p.S295L 1 0.078125 ENSG00000157103 chr3:11025807-11025807;C/T missense_variant False SLC6A1@p.T183I 1 0.25 ENSG00000157103 chr3:11020289-11020289;C/T missense_variant False SLC6A20@p.A374T 1 0.385321101 ENSG00000163817 chr3:45765720-45765720;C/T missense_variant False SLC6A20@p.E307K 1 0.431034483 ENSG00000163817 chr3:45771233-45771233;C/T missense_variant False SLC6A20@p.R581H 1 0.228070175 ENSG00000163817 chr3:45759015-45759015;C/T missense_variant False SLC6A20@p.V336M 1 0.176470588 ENSG00000163817 chr3:45770301-45770301;C/T missense_variant False SLC6A2@p.R26W 1 0.322580645 ENSG00000103546 chr16:55656770-55656770;C/T missense_variant False SLC6A2@p.R604W 1 0.1 ENSG00000103546 chr16:55701914-55701914;A/T missense_variant False SLC6A3@p.A331T 1 0.376811594 ENSG00000142319 chr5:1416138-1416138;C/T missense_variant False SLC6A3@p.F123L 1 0.6 ENSG00000142319 chr5:1441408-1441408;G/T missense_variant False SLC6A3@p.F362L 1 0.182795699 ENSG00000142319 chr5:1414761-1414761;G/C missense_variant False SLC7A14@p.E434Q 1 0.24742268 ENSG00000013293 chr3:170480982-170480982;C/G missense_variant False SLC7A14@p.P356L 1 0.300699301 ENSG00000013293 chr3:170483362-170483362;G/A missense_variant False SLC9A3R1@p.R194W 1 0.255319149 None chr17:74762150-74762150;C/T missense_variant False SLC8A2@p.S87C 1 0.3 ENSG00000118160 chr19:47466144-47466144;G/C missense_variant False SLC8A3@p.T679M 1 0.297297297 ENSG00000100678 chr14:70051103-70051103;G/A missense_variant False SLC8A3@p.S807T 1 0.258064516 ENSG00000100678 chr14:70046311-70046311;C/G missense_variant False SLC8A3@p.S465C 1 0.383211679 ENSG00000100678 chr14:70167029-70167029;G/C missense_variant False SLC8A3@p.S168F 1 0.2 ENSG00000100678 chr14:70167920-70167920;G/A missense_variant False SLC8A3@p.D331N 1 0.293333333 ENSG00000100678 chr14:70167432-70167432;C/T missense_variant False SLC8A2@p.S87T 1 0.397163121 ENSG00000118160 chr19:47466145-47466145;A/T missense_variant False SLC8A2@p.S203C 1 0.378378378 ENSG00000118160 chr19:47465796-47465796;G/C missense_variant False SLC8A1@p.R476T 1 0.26984127 ENSG00000183023 chr2:40428854-40428854;C/G missense_variant False SLC8A2@p.E664Q 1 0.194174757 ENSG00000118160 chr19:47437869-47437869;C/G missense_variant False SLC8A2@p.E473Q 1 0.205882353 ENSG00000118160 chr19:47448155-47448155;C/G missense_variant False SLC8A2@p.D247N 1 0.44 ENSG00000118160 chr19:47457531-47457531;C/T missense_variant False SLC8A2@p.A90T 1 0.318181818 ENSG00000118160 chr19:47466136-47466136;C/T missense_variant False SLC8A2@p.A69V 1 0.592592593 ENSG00000118160 chr19:47466198-47466198;G/A missense_variant False SLC8A1@p.S93C 1 0.242424242 ENSG00000183023 chr2:40430003-40430003;G/C missense_variant False SLC8A3@p.V552L 1 0.298245614 ENSG00000100678 chr14:70166769-70166769;C/G missense_variant False SLC8B1@p.A437S 1 0.185185185 ENSG00000089060 chr12:113307793-113307793;C/A missense_variant False SLC8B1@p.G257E 1 0.282608696 ENSG00000089060 chr12:113318996-113318996;C/T missense_variant False SLC8B1@p.I68V 1 0.111111111 ENSG00000089060 chr12:113321303-113321303;T/C missense_variant False SLC8B1@p.S544L 1 0.282608696 ENSG00000089060 chr12:113299901-113299901;G/A missense_variant False SLC8B1@p.Y240C 1 0.24 ENSG00000089060 chr12:113319047-113319047;T/C missense_variant False SLC9A1@p.E754K 1 0.131147541 ENSG00000090020 chr1:27100495-27100495;C/T missense_variant False SLC9A1@p.M115I 1 0.311688312 ENSG00000090020 chr1:27153990-27153990;C/T missense_variant False SLC9A1@p.R14W 1 0.202898551 ENSG00000090020 chr1:27154295-27154295;G/A missense_variant False SLC9A1@p.R698P 1 0.543478261 ENSG00000090020 chr1:27101220-27101220;C/G missense_variant False SLC9A2@p.F257L 1 0.252941176 ENSG00000115616 chr2:102665117-102665117;C/G missense_variant False SLC9A2@p.R602G 1 0.05 ENSG00000115616 chr2:102702461-102702461;C/G missense_variant False SLC9A2@p.S687C 1 0.327272727 ENSG00000115616 chr2:102705928-102705928;C/G missense_variant False SLC9A3@p.I710M 1 0.42 ENSG00000066230 chr5:476030-476030;G/C missense_variant False SLC9A3@p.R765C 1 0.209677419 ENSG00000066230 chr5:475091-475091;G/A missense_variant False SLC9A3@p.S233F 1 0.262711864 ENSG00000066230 chr5:485209-485209;G/A missense_variant False SLC9A3@p.V99I 1 0.571428571 ENSG00000066230 chr5:491988-491988;C/T missense_variant False SLC8A1@p.R696_E700del 1 0.128571429 ENSG00000183023 chr2:40164924-40164938;TCTGCAATGCGCCTC/- inframe_deletion False SLC8A1@p.Q271H 1 0.195454545 ENSG00000183023 chr2:40429468-40429468;C/G missense_variant False SLC7A14@p.R545T 1 0.206666667 ENSG00000013293 chr3:170480648-170480648;C/G missense_variant False SLC7A2@p.G108A 1 0.403846154 ENSG00000003989 chr8:17543662-17543662;G/C missense_variant False SLC7A5@p.E234K 1 0.384615385 ENSG00000103257 chr16:87841120-87841120;C/T missense_variant False SLC7A5@p.E136Q 1 0.181818182 ENSG00000103257 chr16:87869017-87869017;C/G missense_variant False SLC7A4@p.P546S 1 0.128571429 ENSG00000099960 chr22:21029432-21029432;G/A missense_variant False SLC7A4@p.D470N 1 0.253731343 ENSG00000099960 chr22:21029926-21029926;C/T missense_variant False SLC7A3@p.S94F 1 0.5 ENSG00000165349 chrX:70929717-70929717;G/A missense_variant False SLC7A3@p.A543D 1 0.52173913 ENSG00000165349 chrX:70926171-70926171;G/T missense_variant False SLC7A2@p.F168V 1 0.4 ENSG00000003989 chr8:17544576-17544576;T/G missense_variant False SLC8A1@p.L645I 1 0.259259259 ENSG00000183023 chr2:40175264-40175264;G/T missense_variant False SLC7A1@p.K4E 1 0.06010929 ENSG00000139514 chr13:29536179-29536179;T/C missense_variant False SLC7A1@p.F302C 1 0.166666667 ENSG00000139514 chr13:29523410-29523410;A/C missense_variant False SLC7A1@p.E487Q 1 0.520833333 ENSG00000139514 chr13:29517624-29517624;C/G missense_variant False SLC7A1@p.E162Q 1 0.221153846 ENSG00000139514 chr13:29532869-29532869;C/G missense_variant False SLC7A1@p.D454N 1 0.223076923 ENSG00000139514 chr13:29517723-29517723;C/T missense_variant False SLC7A1@p.A300T 1 0.219512195 ENSG00000139514 chr13:29523417-29523417;C/T missense_variant False SLC7A5@p.F130S 1 0.25 ENSG00000103257 chr16:87869034-87869034;A/G missense_variant False SLC7A5@p.I68M 1 0.212598425 ENSG00000103257 chr16:87869219-87869219;G/C missense_variant False SLC7A5@p.S126W 1 0.093023256 ENSG00000103257 chr16:87869046-87869046;G/C missense_variant False SLC7A5@p.Y124F 1 0.5 ENSG00000103257 chr16:87869052-87869052;T/A missense_variant False SLC7A6@p.S91C 1 0.421568627 ENSG00000103064 chr16:68274998-68274998;C/G missense_variant False SLC7A6@p.T312M 1 0.457627119 ENSG00000103064 chr16:68291574-68291574;C/T missense_variant False SLC7A6OS@p.E149Q 1 0.555555556 ENSG00000103061 chr16:68310361-68310361;C/G missense_variant False SLC7A7@p.E36K 1 0.153846154 ENSG00000155465 chr14:22813293-22813293;C/T missense_variant False SLC7A7@p.I351V 1 0.144736842 ENSG00000155465 chr14:22775488-22775488;T/C missense_variant False SLC7A7@p.V200I 1 0.261363636 ENSG00000155465 chr14:22779953-22779953;C/T missense_variant False SLC7A8@p.A530V 1 0.305084746 ENSG00000092068 chr14:23127196-23127196;G/A missense_variant False SLC7A9@p.D3N 1 0.157232704 ENSG00000021488 chr19:32868528-32868528;C/T missense_variant False SLC7A9@p.I149M 1 0.2 ENSG00000021488 chr19:32864127-32864127;G/C missense_variant False SLC7A9@p.R9Q 1 0.130208333 ENSG00000021488 chr19:32868509-32868509;C/T missense_variant False SLC7A9@p.S312L 1 0.166666667 ENSG00000021488 chr19:32858482-32858482;G/A missense_variant False SLC8A1@p.A390V 1 0.36 ENSG00000183023 chr2:40429112-40429112;G/A missense_variant False SLC8A1@p.E721K 1 0.093220339 ENSG00000183023 chr2:40164862-40164862;C/T missense_variant False SNAP91@p.A671S 1 0.177419355 ENSG00000065609 chr6:83591214-83591214;C/A missense_variant False SNAP91@p.E51K 1 0.481481481 ENSG00000065609 chr6:83665561-83665561;C/T missense_variant False SNAP91@p.L45F 1 0.217391304 ENSG00000065609 chr6:83665577-83665577;C/G missense_variant False SPEG@p.S269C 1 0.285714286 ENSG00000072195 chr2:219445152-219445152;C/G missense_variant False SPEN@p.D138N 1 0.333333333 ENSG00000065526 chr1:15876209-15876209;G/A missense_variant False SPEN@p.D1128N 1 0.111111111 ENSG00000065526 chr1:15929622-15929622;G/A missense_variant False SPEM2@p.R149T 1 0.376470588 ENSG00000184560 chr17:7426437-7426437;G/C missense_variant False SPEM2@p.P325H 1 0.641025641 ENSG00000184560 chr17:7426965-7426965;C/A missense_variant False SPEM2@p.P152R 1 0.705128205 ENSG00000184560 chr17:7426446-7426446;C/G missense_variant False SPEG@p.V1326M 1 0.585365854 ENSG00000072195 chr2:219472925-219472925;G/A missense_variant False SPEG@p.S2629L 1 0.860465116 ENSG00000072195 chr2:219488525-219488525;C/T missense_variant False SPEN@p.D2464_S2466del 1 0.088235294 ENSG00000065526 chr1:15933627-15933635;AGCGATCCA/- inframe_deletion False SPEG@p.R2144Q 1 0.416666667 ENSG00000072195 chr2:219483894-219483894;G/A missense_variant False SPEG@p.Q1229H 1 0.352941176 ENSG00000072195 chr2:219469351-219469351;G/C missense_variant False SPEG@p.P3166T 1 0.19047619 ENSG00000072195 chr2:219492145-219492145;C/A missense_variant False SPEG@p.P209L 1 0.24 ENSG00000072195 chr2:219444972-219444972;C/T missense_variant False SPEG@p.L1301H 1 0.156862745 ENSG00000072195 chr2:219472293-219472293;T/A missense_variant False SPEG@p.K1203E 1 0.64 ENSG00000072195 chr2:219469271-219469271;A/G missense_variant False SPEN@p.D2097H 1 0.198275862 ENSG00000065526 chr1:15932529-15932529;G/C missense_variant False SPEN@p.D2521N 1 0.257839721 ENSG00000065526 chr1:15933801-15933801;G/A missense_variant False SPICE1@p.L73F 1 0.117647059 ENSG00000163611 chr3:113499511-113499511;C/G missense_variant False SPEN@p.P1735S 1 0.144230769 ENSG00000065526 chr1:15931443-15931443;C/T missense_variant False SPEN@p.R229Q 1 0.23880597 ENSG00000065526 chr1:15876483-15876483;G/A missense_variant False SPEN@p.R1529C 1 0.069767442 ENSG00000065526 chr1:15930825-15930825;C/T missense_variant False SPEN@p.R128H 1 0.333333333 ENSG00000065526 chr1:15873115-15873115;G/A missense_variant False SPEN@p.R100C 1 0.226190476 ENSG00000065526 chr1:15873030-15873030;C/T missense_variant False SPEN@p.Q2645E 1 0.13 ENSG00000065526 chr1:15934173-15934173;C/G missense_variant False SPEN@p.Q253E 1 0.28 ENSG00000065526 chr1:15876554-15876554;C/G missense_variant False SPEN@p.I3007L 1 0.244897959 ENSG00000065526 chr1:15935259-15935259;A/C missense_variant False SPEN@p.D2905N 1 0.5 ENSG00000065526 chr1:15934953-15934953;G/A missense_variant False SPEN@p.G3300W 1 0.094059406 ENSG00000065526 chr1:15936138-15936138;G/T missense_variant False SPEN@p.E3636K 1 0.325203252 ENSG00000065526 chr1:15939338-15939338;G/A missense_variant False SPEN@p.E3159K 1 0.3 ENSG00000065526 chr1:15935715-15935715;G/A missense_variant False SPEN@p.E2231Q 1 0.329545455 ENSG00000065526 chr1:15932931-15932931;G/C missense_variant False SPEN@p.E2214Q 1 0.2 ENSG00000065526 chr1:15932880-15932880;G/C missense_variant False SPEN@p.E1940K 1 0.198019802 ENSG00000065526 chr1:15932058-15932058;G/A missense_variant False SPEG@p.I1356M 1 0.21686747 ENSG00000072195 chr2:219473017-219473017;C/G missense_variant False SPEG@p.E1675K 1 0.133333333 ENSG00000072195 chr2:219478101-219478101;G/A missense_variant False SPEG@p.D996N 1 0.214285714 ENSG00000072195 chr2:219467278-219467278;G/A missense_variant False SPECC1L@p.I690M 1 0.392156863 ENSG00000100014 chr22:24324351-24324351;C/G missense_variant False SPECC1L@p.S468F 1 0.471830986 ENSG00000100014 chr22:24322383-24322383;C/T missense_variant False SPECC1L@p.S312F 1 0.446428571 ENSG00000100014 chr22:24321915-24321915;C/T missense_variant False SPECC1L@p.R701C 1 0.355555556 ENSG00000100014 chr22:24324382-24324382;C/T missense_variant False SPECC1L@p.P974T 1 0.133858268 ENSG00000100014 chr22:24365568-24365568;C/A missense_variant False SPECC1L@p.P837A 1 0.333333333 ENSG00000100014 chr22:24334522-24334522;C/G missense_variant False SPECC1L@p.N250K 1 0.227513228 ENSG00000100014 chr22:24321730-24321730;T/A missense_variant False SPECC1L@p.G306A 1 0.356164384 ENSG00000100014 chr22:24321897-24321897;G/C missense_variant False SPEG@p.A992V 1 0.485714286 ENSG00000072195 chr2:219467267-219467267;C/T missense_variant False SPECC1L@p.E351K 1 0.168674699 ENSG00000100014 chr22:24322031-24322031;G/A missense_variant False SPECC1@p.S131L 1 0.109090909 ENSG00000128487 chr17:20204441-20204441;C/T missense_variant False SPECC1@p.R21Q 1 0.221719457 ENSG00000128487 chr17:20096713-20096713;G/A missense_variant False SPECC1@p.L257F 1 0.288135593 ENSG00000128487 chr17:20204818-20204818;C/T missense_variant False SPECC1@p.I377M 1 0.460992908 ENSG00000128487 chr17:20205180-20205180;A/G missense_variant False SPECC1@p.F997L 1 0.475609756 ENSG00000128487 chr17:20297011-20297011;C/G missense_variant False SPECC1L@p.T36M 1 0.426573427 ENSG00000100014 chr22:24302338-24302338;C/T missense_variant False SPEF1@p.Q12H 1 0.295081967 ENSG00000101222 chr20:3781252-3781252;C/G missense_variant False SPEF1@p.R208S 1 0.380952381 ENSG00000101222 chr20:3778299-3778299;C/G missense_variant False SPEF2@p.D1627H 1 0.353846154 ENSG00000152582 chr5:35800016-35800016;G/C missense_variant False SPEF2@p.E1203K 1 0.28 ENSG00000152582 chr5:35759706-35759706;G/A missense_variant False SPEF2@p.E1575Q 1 0.4 ENSG00000152582 chr5:35793327-35793327;G/C missense_variant False SPEF2@p.E1733K 1 0.208333333 ENSG00000152582 chr5:35806893-35806893;G/A missense_variant False SPEF2@p.F1358L 1 0.128 ENSG00000152582 chr5:35774017-35774017;T/G missense_variant False SPEF2@p.F191V 1 0.411764706 ENSG00000152582 chr5:35644511-35644511;T/G missense_variant False SPEF2@p.I928T 1 0.058823529 ENSG00000152582 chr5:35709065-35709065;T/C missense_variant False SPEF2@p.K407N 1 0.31884058 ENSG00000152582 chr5:35667125-35667125;G/C missense_variant False SPEF2@p.K755T 1 0.232142857 ENSG00000152582 chr5:35700618-35700618;A/C missense_variant False SPEF2@p.K886Rfs*8 1 0.25 ENSG00000152582 chr5:35705792-35705792;A/- frameshift_variant False SPEF2@p.L731V 1 0.196428571 ENSG00000152582 chr5:35700545-35700545;T/G missense_variant False SPEF2@p.P545L 1 0.076595745 ENSG00000152582 chr5:35691146-35691146;C/T missense_variant False SPEF2@p.S477F 1 0.181034483 ENSG00000152582 chr5:35670133-35670133;C/T missense_variant False SPEF2@p.S48L 1 0.192982456 ENSG00000152582 chr5:35628544-35628544;C/T missense_variant False SPEN@p.R637Q 1 0.460526316 ENSG00000065526 chr1:15928150-15928150;G/A missense_variant False SPEN@p.S1298F 1 0.305785124 ENSG00000065526 chr1:15930133-15930133;C/T missense_variant False SPEN@p.S2185F 1 0.466165414 ENSG00000065526 chr1:15932794-15932794;C/T missense_variant False SPHKAP@p.E594K 1 0.274193548 ENSG00000153820 chr2:228019074-228019074;C/T missense_variant False SPHKAP@p.M970I 1 0.109243697 ENSG00000153820 chr2:228017944-228017944;C/T missense_variant False SPHKAP@p.L139F 1 0.144927536 ENSG00000153820 chr2:228025420-228025420;G/A missense_variant False SPHKAP@p.L114V 1 0.156521739 ENSG00000153820 chr2:228025495-228025495;G/C missense_variant False SPHKAP@p.I450N 1 0.131386861 ENSG00000153820 chr2:228019505-228019505;A/T missense_variant False SPHKAP@p.H778Q 1 0.062745098 ENSG00000153820 chr2:228018520-228018520;G/T missense_variant False SPHKAP@p.E740K 1 0.372881356 ENSG00000153820 chr2:228018636-228018636;C/T missense_variant False SPHKAP@p.E211K 1 0.451612903 ENSG00000153820 chr2:228021777-228021777;C/T missense_variant False SPHK2@p.S327F 1 0.132352941 ENSG00000063176 chr19:48628788-48628788;C/T missense_variant False SPHKAP@p.E1345D 1 0.281690141 ENSG00000153820 chr2:228016819-228016819;C/G missense_variant False SPHKAP@p.E1123Q 1 0.6875 ENSG00000153820 chr2:228017487-228017487;C/G missense_variant False SPHKAP@p.E1088Q 1 0.244897959 ENSG00000153820 chr2:228017592-228017592;C/G missense_variant False SPHKAP@p.D460N 1 0.603773585 ENSG00000153820 chr2:228019476-228019476;C/T missense_variant False SPHKAP@p.A961E 1 0.2125 ENSG00000153820 chr2:228017972-228017972;G/T missense_variant False SPHK2@p.S497C 1 0.368421053 ENSG00000063176 chr19:48629298-48629298;C/G missense_variant False SPHKAP@p.P1509T 1 0.675 ENSG00000153820 chr2:227995618-227995618;G/T missense_variant False SPHKAP@p.Q1605H 1 0.240740741 ENSG00000153820 chr2:227991144-227991144;C/G missense_variant False SPHKAP@p.R1077Q 1 0.161290323 ENSG00000153820 chr2:228017624-228017624;C/T missense_variant False SPHKAP@p.R1142T 1 0.466666667 ENSG00000153820 chr2:228017429-228017429;C/G missense_variant False SPHKAP@p.R49C 1 0.401709402 ENSG00000153820 chr2:228108933-228108933;G/A missense_variant False SPHKAP@p.R518T 1 0.142857143 ENSG00000153820 chr2:228019301-228019301;C/G missense_variant False SPHKAP@p.R645K 1 0.157480315 ENSG00000153820 chr2:228018920-228018920;C/T missense_variant False SPHKAP@p.S1157R 1 0.11827957 ENSG00000153820 chr2:228017383-228017383;G/C missense_variant False SPHKAP@p.S1407L 1 0.894736842 ENSG00000153820 chr2:228016634-228016634;G/A missense_variant False SPHKAP@p.T1599M 1 0.35 ENSG00000153820 chr2:227991163-227991163;G/A missense_variant False SPHKAP@p.T809M 1 0.22962963 ENSG00000153820 chr2:228018428-228018428;G/A missense_variant False SPI1@p.E34K 1 0.563218391 ENSG00000066336 chr11:47375675-47375675;C/T missense_variant False SPIB@p.A163S 1 0.318181818 ENSG00000269404 chr19:50423752-50423752;G/T missense_variant False SPIC@p.N146Kfs*50 1 0.115942029 ENSG00000166211 chr12:101486455-101486456;-/A frameshift_variant False SPIC@p.T190I 1 0.098591549 ENSG00000166211 chr12:101486593-101486593;C/T missense_variant False SPICE1@p.E611K 1 0.270676692 ENSG00000163611 chr3:113453777-113453777;C/T missense_variant False SPICE1@p.E740Q 1 0.366666667 ENSG00000163611 chr3:113450441-113450441;C/G missense_variant False SPHK2@p.S472F 1 0.128 ENSG00000063176 chr19:48629223-48629223;C/T missense_variant False SPHK2@p.R418H 1 0.333333333 ENSG00000063176 chr19:48629061-48629061;G/A missense_variant False SPEN@p.S2338L 1 0.585365854 ENSG00000065526 chr1:15933253-15933253;C/T missense_variant False SPESP1@p.R251T 1 0.131868132 ENSG00000258484 chr15:68946286-68946286;G/C missense_variant False SPG11@p.E2216K 1 0.080645161 ENSG00000104133 chr15:44567532-44567532;C/T missense_variant False SPG11@p.E1798D 1 0.470588235 ENSG00000104133 chr15:44584286-44584286;C/G missense_variant False SPG11@p.E1026K 1 0.435483871 ENSG00000104133 chr15:44613499-44613499;C/T missense_variant False SPG11@p.D2346Y 1 0.109375 ENSG00000104133 chr15:44564662-44564662;C/A missense_variant False SPG11@p.D1888N 1 0.133333333 ENSG00000104133 chr15:44584018-44584018;C/T missense_variant False SPG11@p.D1887H 1 0.333333333 ENSG00000104133 chr15:44584021-44584021;C/G missense_variant False SPESP1@p.E209Q 1 0.542056075 ENSG00000258484 chr15:68946159-68946159;G/C missense_variant False SPHK2@p.R373C 1 0.172043011 ENSG00000063176 chr19:48628925-48628925;C/T missense_variant False SPESP1@p.A268T 1 0.245283019 ENSG00000258484 chr15:68946336-68946336;G/A missense_variant False SPEN@p.S3003L 1 0.125984252 ENSG00000065526 chr1:15935248-15935248;C/T missense_variant False SPEN@p.S278A 1 0.339805825 ENSG00000065526 chr1:15876629-15876629;T/G missense_variant False SPEN@p.S247L 1 0.162162162 ENSG00000065526 chr1:15876537-15876537;C/T missense_variant False SPEN@p.S2463T 1 0.161290323 ENSG00000065526 chr1:15933628-15933628;G/C missense_variant False SPEN@p.S2400Y 1 0.291666667 ENSG00000065526 chr1:15933439-15933439;C/A missense_variant False SPG11@p.F1395L 1 0.152941176 ENSG00000104133 chr15:44596332-44596332;G/C missense_variant False SPG11@p.Q913K 1 0.474576271 ENSG00000104133 chr15:44620287-44620287;G/T missense_variant False SPG11@p.S1484C 1 0.306122449 ENSG00000104133 chr15:44595443-44595443;G/C missense_variant False SPG11@p.S1750C 1 0.443037975 ENSG00000104133 chr15:44584431-44584431;G/C missense_variant False SPG11@p.S694N 1 0.465517241 ENSG00000104133 chr15:44626494-44626494;C/T missense_variant False SPG11@p.Y909C 1 0.153846154 ENSG00000104133 chr15:44620298-44620298;T/C missense_variant False SPG21@p.I142M 1 0.265625 ENSG00000090487 chr15:64974628-64974628;G/C missense_variant False SPG7@p.D452Y 1 0.328671329 ENSG00000197912 chr16:89544698-89544698;G/T missense_variant False SPG7@p.E422Q 1 0.280701754 ENSG00000197912 chr16:89532597-89532597;G/C missense_variant False SPG7@p.G162R 1 0.470588235 ENSG00000197912 chr16:89524113-89524113;G/A missense_variant False SPG7@p.L615V 1 0.346153846 ENSG00000197912 chr16:89553063-89553063;C/G missense_variant False SPG7@p.M152I 1 0.4 ENSG00000197912 chr16:89524085-89524085;G/A missense_variant False SPG7@p.V147F 1 0.182539683 ENSG00000197912 chr16:89524068-89524068;G/T missense_variant False SPHK2@p.A604T 1 0.315789474 ENSG00000063176 chr19:48629618-48629618;G/A missense_variant False SPHK2@p.L425V 1 0.180327869 ENSG00000063176 chr19:48629081-48629081;C/G missense_variant False SPHK2@p.P83* 1 0.121212121 ENSG00000063176 chr19:48626098-48626099;CC/- frameshift_variant False SPHK2@p.R310Q 1 0.170212766 ENSG00000063176 chr19:48628737-48628737;G/A missense_variant False SPECC1@p.E688Q 1 0.222222222 ENSG00000128487 chr17:20227611-20227611;G/C missense_variant False SPECC1@p.E579K 1 0.436893204 ENSG00000128487 chr17:20205784-20205784;G/A missense_variant False SPECC1@p.E44Q 1 0.373134328 ENSG00000128487 chr17:20096781-20096781;G/C missense_variant False SPATA31A1@p.R1079K 1 0.44600939 ENSG00000204849 chr9:39361001-39361001;G/A missense_variant False SPATA31A3@p.E188K 1 0.236111111 ENSG00000275969 chr9:66989936-66989936;C/T missense_variant False SPATA31A3@p.E1188K 1 0.191489362 ENSG00000275969 chr9:66986936-66986936;C/T missense_variant False SPATA31A3@p.E1014Q 1 0.136 ENSG00000275969 chr9:66987458-66987458;C/G missense_variant False SPATA31A3@p.A146S 1 0.049019608 ENSG00000275969 chr9:66990062-66990062;C/A missense_variant False SPATA31A1@p.S135F 1 0.910714286 ENSG00000204849 chr9:39358169-39358169;C/T missense_variant False SPATA31A1@p.R1227C 1 0.122137405 ENSG00000204849 chr9:39361444-39361444;C/T missense_variant False SPATA31A1@p.Q457E 1 0.198645598 ENSG00000204849 chr9:39359134-39359134;C/G missense_variant False SPATA2L@p.L415V 1 0.19047619 ENSG00000158792 chr16:89697366-89697366;G/C missense_variant False SPATA31A1@p.P899L 1 0.37037037 ENSG00000204849 chr9:39360461-39360461;C/T missense_variant False SPATA31A1@p.P631A 1 0.228571429 ENSG00000204849 chr9:39359656-39359656;C/G missense_variant False SPATA31A1@p.L671R 1 0.19921875 ENSG00000204849 chr9:39359777-39359777;T/G missense_variant False SPATA31A1@p.K1326N 1 0.442307692 ENSG00000204849 chr9:39361743-39361743;G/C missense_variant False SPATA31A1@p.E722Q 1 1.0 ENSG00000204849 chr9:39359929-39359929;G/C missense_variant False SPATA31A1@p.E1205K 1 0.653266332 ENSG00000204849 chr9:39361378-39361378;G/A missense_variant False SPATA31A3@p.I1285M 1 0.818181818 ENSG00000275969 chr9:66986643-66986643;G/C missense_variant False SPATA31A3@p.L218V 1 0.427083333 ENSG00000275969 chr9:66989846-66989846;G/C missense_variant False SPATA31D1@p.A1402T 1 0.307692308 ENSG00000214929 chr9:81994674-81994674;G/A missense_variant False SPATA31D1@p.A352Hfs*39 1 0.10483871 ENSG00000214929 chr9:81991520-81991520;C/- frameshift_variant False SPATA31D1@p.D26N 1 0.215189873 ENSG00000214929 chr9:81988894-81988894;G/A missense_variant False SPATA31D1@p.E865Q 1 0.228915663 ENSG00000214929 chr9:81993063-81993063;G/C missense_variant False SPATA31D1@p.H393L 1 0.714285714 ENSG00000214929 chr9:81991648-81991648;A/T missense_variant False SPATA31D1@p.K1472Nfs*22 1 0.24 ENSG00000214929 chr9:81994884-81994884;A/- frameshift_variant False SPATA31D1@p.Q953E 1 0.111111111 ENSG00000214929 chr9:81993327-81993327;C/G missense_variant False SPATA31D1@p.R1158K 1 0.161290323 ENSG00000214929 chr9:81993943-81993943;G/A missense_variant False SPATA31D1@p.R1158S 1 0.161290323 ENSG00000214929 chr9:81993944-81993944;G/T missense_variant False SPATA31D1@p.S1168G 1 0.466666667 ENSG00000214929 chr9:81993972-81993972;A/G missense_variant False SPATA31D1@p.S333F 1 0.061797753 ENSG00000214929 chr9:81991468-81991468;C/T missense_variant False SPATA31E1@p.P805R 1 0.723404255 ENSG00000177992 chr9:87886901-87886901;C/G missense_variant False SPATA31E1@p.Q639K 1 0.444444444 ENSG00000177992 chr9:87886402-87886402;C/A missense_variant False SPATA31E1@p.R1370T 1 0.2 ENSG00000177992 chr9:87888596-87888596;G/C missense_variant False SPATA31E1@p.R329W 1 0.588235294 ENSG00000177992 chr9:87885472-87885472;C/T missense_variant False SPATA2L@p.S116L 1 0.246666667 ENSG00000158792 chr16:89698262-89698262;G/A missense_variant False SPATA2L@p.E180K 1 0.4375 ENSG00000158792 chr16:89698071-89698071;C/T missense_variant False SPATA32@p.F124L 1 0.165048544 ENSG00000184361 chr17:45255810-45255810;G/C missense_variant False SPATA16@p.M560I 1 0.146596859 ENSG00000144962 chr3:172889600-172889600;C/G missense_variant False SPATA18@p.S291C 1 0.078431373 ENSG00000163071 chr4:52076892-52076892;C/G missense_variant False SPATA18@p.Q216H 1 0.355555556 ENSG00000163071 chr4:52072046-52072046;G/C missense_variant False SPATA18@p.E422D 1 0.323636364 ENSG00000163071 chr4:52079830-52079830;G/T missense_variant False SPATA17@p.I247T 1 0.3125 ENSG00000162814 chr1:217782190-217782190;T/C missense_variant False SPATA17@p.E321Q 1 0.194029851 ENSG00000162814 chr1:217801806-217801806;G/C missense_variant False SPATA16@p.Q363E 1 0.307692308 ENSG00000144962 chr3:172925487-172925487;G/C missense_variant False SPATA13@p.R424H 1 0.1 ENSG00000228741 chr13:24294804-24294804;G/A missense_variant False SPATA2@p.S80C 1 0.040816327 ENSG00000158480 chr20:49908252-49908252;G/C missense_variant False SPATA13@p.K433N 1 0.134328358 ENSG00000228741 chr13:24294832-24294832;G/C missense_variant False SPATA13@p.K427Qfs*35 1 0.113207547 ENSG00000228741 chr13:24294812-24294828;AAGCTGGAGAGCATCGA/- frameshift_variant False SPATA12@p.I90M 1 0.134328358 ENSG00000186451 chr3:57073964-57073964;C/G missense_variant False SPATA12@p.E170Q 1 0.088235294 ENSG00000186451 chr3:57074202-57074202;G/C missense_variant False SPAST@p.P286S 1 0.402777778 ENSG00000021574 chr2:32114811-32114811;C/T missense_variant False SPAST@p.E154K 1 0.130434783 ENSG00000021574 chr2:32087536-32087536;G/A missense_variant False SPATA18@p.S499F 1 0.090909091 ENSG00000163071 chr4:52084932-52084932;C/T missense_variant False SPATA19@p.I23M 1 0.145833333 ENSG00000166118 chr11:133845378-133845378;T/C missense_variant False SPATA19@p.S37C 1 0.363636364 ENSG00000166118 chr11:133845159-133845159;G/C missense_variant False SPATA1@p.P104A 1 0.179104478 ENSG00000122432 chr1:84525744-84525744;C/G missense_variant False SPATA20@p.E332Q 1 0.331168831 ENSG00000006282 chr17:50550256-50550256;G/C missense_variant False SPATA20@p.P389T 1 0.391891892 ENSG00000006282 chr17:50550747-50550747;C/A missense_variant False SPATA20@p.R226Q 1 0.176470588 ENSG00000006282 chr17:50549350-50549350;G/A missense_variant False SPATA20@p.R495W 1 0.194444444 ENSG00000006282 chr17:50551145-50551145;C/T missense_variant False SPATA21@p.H99Q 1 0.473684211 ENSG00000187144 chr1:16409891-16409891;A/T missense_variant False SPATA21@p.Q242H 1 0.448979592 ENSG00000187144 chr1:16405052-16405052;C/G missense_variant False SPATA21@p.S371N 1 0.070588235 ENSG00000187144 chr1:16400782-16400782;C/T missense_variant False SPATA22@p.E352Q 1 0.461538462 ENSG00000141255 chr17:3440185-3440185;C/G missense_variant False SPATA22@p.I325V 1 0.208955224 ENSG00000141255 chr17:3440266-3440266;T/C missense_variant False SPATA22@p.K170E 1 0.283018868 ENSG00000141255 chr17:3448971-3448971;T/C missense_variant False SPATA22@p.Q153E 1 0.29787234 ENSG00000141255 chr17:3449022-3449022;G/C missense_variant False SPATA2@p.H420Y 1 0.259259259 ENSG00000158480 chr20:49905924-49905924;G/A missense_variant False SPATA2@p.L272F 1 0.310126582 ENSG00000158480 chr20:49906366-49906366;C/G missense_variant False SPATA31E1@p.S1077L 1 0.214285714 ENSG00000177992 chr9:87887717-87887717;C/T missense_variant False SPATA32@p.P191_A195del 1 0.138888889 ENSG00000184361 chr17:45255597-45255611;GGCCTCCCGGAGCGG/- inframe_deletion False SPECC1@p.D242N 1 0.207792208 ENSG00000128487 chr17:20204773-20204773;G/A missense_variant False SPATS2@p.E541K 1 0.423076923 ENSG00000123352 chr12:49526238-49526238;G/A missense_variant False SPCS2@p.V142M 1 0.257142857 ENSG00000118363 chr11:74969629-74969629;G/A missense_variant False SPCS2@p.H216Y 1 0.173913043 ENSG00000118363 chr11:74977008-74977008;C/T missense_variant False SPATS2L@p.E281A 1 0.65 ENSG00000196141 chr2:200459822-200459822;A/C missense_variant False SPATS2@p.S399F 1 0.316742081 ENSG00000123352 chr12:49524766-49524766;C/T missense_variant False SPATS2@p.Q116E 1 0.127659574 ENSG00000123352 chr12:49494822-49494822;C/G missense_variant False SPATS2@p.E71K 1 0.196428571 ENSG00000123352 chr12:49489570-49489570;G/A missense_variant False SPATS2@p.E142K 1 0.285714286 ENSG00000123352 chr12:49494900-49494900;G/A missense_variant False SPATA9@p.H94R 1 0.133333333 ENSG00000145757 chr5:95675509-95675509;T/C missense_variant False SPATS1@p.P86S 1 0.093220339 ENSG00000249481 chr6:44352842-44352842;C/T missense_variant False SPATS1@p.P149S 1 0.279569892 ENSG00000249481 chr6:44361863-44361863;C/T missense_variant False SPATS1@p.P127A 1 0.434210526 ENSG00000249481 chr6:44360537-44360537;C/G missense_variant False SPATS1@p.E33Q 1 0.148514851 ENSG00000249481 chr6:44343192-44343192;G/C missense_variant False SPATC1@p.S411L 1 0.107843137 ENSG00000186583 chr8:144041033-144041033;C/T missense_variant False SPATC1@p.E409K 1 0.483870968 ENSG00000186583 chr8:144041026-144041026;G/A missense_variant False SPDEF@p.P109H 1 0.235294118 ENSG00000124664 chr6:34544130-34544130;G/T missense_variant False SPDL1@p.Q483E 1 0.163934426 ENSG00000040275 chr5:169601402-169601402;C/G missense_variant False SPDL1@p.S515C 1 0.196261682 ENSG00000040275 chr5:169601499-169601499;C/G missense_variant False SPDYA@p.A126V 1 0.1875 ENSG00000163806 chr2:28822407-28822407;C/T missense_variant False SPDYA@p.E143K 1 0.148148148 ENSG00000163806 chr2:28829194-28829194;G/A missense_variant False SPDYA@p.S20L 1 0.207920792 ENSG00000163806 chr2:28816073-28816073;C/T missense_variant False SPDYA@p.S229L 1 0.366666667 ENSG00000163806 chr2:28840305-28840305;C/T missense_variant False SPDYC@p.A99V 1 0.204301075 ENSG00000204710 chr11:65172283-65172283;C/T missense_variant False SPDYC@p.E243K 1 0.457446809 ENSG00000204710 chr11:65172894-65172894;G/A missense_variant False SPDYC@p.R98C 1 0.357142857 ENSG00000204710 chr11:65172279-65172279;C/T missense_variant False SPDYE1@p.D221N 1 0.143884892 ENSG00000136206 chr7:44007296-44007296;G/A missense_variant False SPDYE1@p.S98F 1 0.37037037 ENSG00000136206 chr7:44002623-44002623;C/T missense_variant False SPDYE3@p.E219Q 1 0.315789474 ENSG00000214300 chr7:100311860-100311860;G/C missense_variant False SPDYE3@p.Q502E 1 0.4625 ENSG00000214300 chr7:100319722-100319722;C/G missense_variant False SPDYE5@p.G129R 1 0.360655738 ENSG00000170092 chr7:75496679-75496679;G/A missense_variant False SPDYE5@p.H247Y 1 0.070422535 ENSG00000170092 chr7:75499300-75499300;C/T missense_variant False SPDYE5@p.M345I 1 0.323144105 ENSG00000170092 chr7:75501641-75501641;G/A missense_variant False SPATA9@p.I172M 1 0.163120567 ENSG00000145757 chr5:95658872-95658872;G/C missense_variant False SPATA7@p.Y111C 1 0.078431373 ENSG00000042317 chr14:88416804-88416804;A/G missense_variant False SPATA45@p.R45K 1 0.273972603 ENSG00000185523 chr1:212836016-212836016;C/T missense_variant False SPATA4@p.S54Y 1 0.442622951 ENSG00000150628 chr4:176195402-176195402;G/T missense_variant False SPATA5@p.F219V 1 0.111111111 ENSG00000145375 chr4:122934246-122934246;T/G missense_variant False SPATA5@p.E706Q 1 0.093023256 ENSG00000145375 chr4:123056423-123056423;G/C missense_variant False SPATA5@p.E410Q 1 0.081967213 ENSG00000145375 chr4:122935794-122935794;G/C missense_variant False SPATA5@p.E298K 1 0.288135593 ENSG00000145375 chr4:122934483-122934483;G/A missense_variant False SPATA5@p.C568R 1 0.186666667 ENSG00000145375 chr4:122947476-122947476;T/C missense_variant False SPATA5@p.A843T 1 0.067567568 ENSG00000145375 chr4:123313909-123313909;G/A missense_variant False SPATA4@p.R155G 1 0.222222222 ENSG00000150628 chr4:176192962-176192962;G/C missense_variant False SPATA7@p.L225V 1 0.178571429 ENSG00000042317 chr14:88426532-88426532;C/G missense_variant False SPATA4@p.R120I 1 0.296296296 ENSG00000150628 chr4:176193066-176193066;C/A missense_variant False SPATA4@p.P247Lfs*11 1 0.363636364 ENSG00000150628 chr4:176188184-176188184;G/- frameshift_variant False SPATA4@p.F123I 1 0.343283582 ENSG00000150628 chr4:176193058-176193058;A/T missense_variant False SPATA46@p.S97F 1 0.892561983 ENSG00000171722 chr1:162374544-162374544;G/A missense_variant False SPATA46@p.S47G 1 0.304761905 ENSG00000171722 chr1:162375368-162375368;T/C missense_variant False SPATA45@p.R86T 1 0.563909774 ENSG00000185523 chr1:212835893-212835893;C/G missense_variant False SPATA5@p.F379L 1 0.358974359 ENSG00000145375 chr4:122934728-122934728;C/G missense_variant False SPATA5@p.G663A 1 0.230769231 ENSG00000145375 chr4:123028304-123028304;G/C missense_variant False SPATA5@p.G833R 1 0.048780488 ENSG00000145375 chr4:123256172-123256172;G/A missense_variant False SPATA5@p.I792M 1 0.322580645 ENSG00000145375 chr4:123256051-123256051;C/G missense_variant False SPATA5@p.Q885E 1 0.347826087 ENSG00000145375 chr4:123314035-123314035;C/G missense_variant False SPATA5@p.R777T 1 0.280487805 ENSG00000145375 chr4:123090695-123090695;G/C missense_variant False SPATA5@p.R802K 1 0.75 ENSG00000145375 chr4:123256080-123256080;G/A missense_variant False SPATA5@p.S22C 1 0.183760684 ENSG00000145375 chr4:122923207-122923207;C/G missense_variant False SPATA5L1@p.L354Q 1 0.246575342 ENSG00000171763 chr15:45403490-45403490;T/A missense_variant False SPATA5L1@p.M623I 1 0.076923077 ENSG00000171763 chr15:45417300-45417300;G/C missense_variant False SPATA6@p.L415I 1 0.417808219 ENSG00000132122 chr1:48305830-48305830;G/T missense_variant False SPATA6@p.S213L 1 0.289855072 ENSG00000132122 chr1:48399493-48399493;G/A missense_variant False SPATA7@p.D335N 1 0.418181818 ENSG00000042317 chr14:88429438-88429438;G/A missense_variant False SPATA7@p.E299K 1 0.195121951 ENSG00000042317 chr14:88427679-88427679;G/A missense_variant False SPATA7@p.E323Q 1 0.158536585 ENSG00000042317 chr14:88429402-88429402;G/C missense_variant False SPATA7@p.E331D 1 0.264705882 ENSG00000042317 chr14:88429428-88429428;G/C missense_variant False SPATA7@p.E377K 1 0.666666667 ENSG00000042317 chr14:88433181-88433181;G/A missense_variant False SPICE1@p.L194Kfs*5 1 0.228571429 ENSG00000163611 chr3:113488975-113488976;AG/- frameshift_variant False SPIDR@p.H595Y 1 0.406091371 ENSG00000164808 chr8:47701730-47701730;C/T missense_variant False SPART@p.S365C 1 0.24852071 ENSG00000133104 chr13:36329432-36329432;G/C missense_variant False SPTAN1@p.D1775N 1 0.633802817 ENSG00000197694 chr9:128615821-128615821;G/A missense_variant False SPTAN1@p.E1542K 1 0.441176471 ENSG00000197694 chr9:128609150-128609150;G/A missense_variant False SPTAN1@p.E1387K 1 0.260869565 ENSG00000197694 chr9:128607864-128607864;G/A missense_variant False SPTAN1@p.E1247Q 1 0.606060606 ENSG00000197694 chr9:128605053-128605053;G/C missense_variant False SPTAN1@p.E1183K 1 0.633333333 ENSG00000197694 chr9:128600083-128600083;G/A missense_variant False SPTAN1@p.E1127K 1 0.407407407 ENSG00000197694 chr9:128594338-128594338;G/A missense_variant False SPTAN1@p.D436H 1 0.793103448 ENSG00000197694 chr9:128579721-128579721;G/C missense_variant False SPTAN1@p.D1475N 1 0.561290323 ENSG00000197694 chr9:128608208-128608208;G/A missense_variant False SPTAN1@p.E1974K 1 0.777777778 ENSG00000197694 chr9:128624430-128624430;G/A missense_variant False SPTAN1@p.A305Gfs*13 1 0.673684211 ENSG00000197694 chr9:128577255-128577256;-/G frameshift_variant False SPTA1@p.T1596K 1 0.090909091 ENSG00000163554 chr1:158639958-158639958;G/T missense_variant False SPTA1@p.R994L 1 0.279069767 ENSG00000163554 chr1:158654666-158654666;C/A missense_variant False SPTA1@p.R468L 1 0.544715447 ENSG00000163554 chr1:158672144-158672144;C/A missense_variant False SPTA1@p.R2211H 1 0.547738693 ENSG00000163554 chr1:158615372-158615372;C/T missense_variant False SPTA1@p.Q1371L 1 0.282442748 ENSG00000163554 chr1:158645270-158645270;T/A missense_variant False SPTAN1@p.E1564K 1 0.576923077 ENSG00000197694 chr9:128609216-128609216;G/A missense_variant False SPTAN1@p.E2111K 1 0.107784431 ENSG00000197694 chr9:128626457-128626457;G/A missense_variant False SPIDR@p.L45V 1 0.263157895 ENSG00000164808 chr8:47279961-47279961;C/G missense_variant False SPTAN1@p.K981N 1 0.403508772 ENSG00000197694 chr9:128588880-128588880;G/C missense_variant False SPTAN1@p.Q1873E 1 0.311827957 ENSG00000197694 chr9:128618902-128618902;C/G missense_variant False SPTAN1@p.N2472S 1 0.84 ENSG00000197694 chr9:128633330-128633330;A/G missense_variant False SPTAN1@p.N1834del 1 0.583333333 ENSG00000197694 chr9:128618021-128618023;ACA/- inframe_deletion False SPTAN1@p.N1658* 1 0.653465347 ENSG00000197694 chr9:128612189-128612190;-/T frameshift_variant False SPTAN1@p.M2395I 1 0.154867257 ENSG00000197694 chr9:128632847-128632847;G/A missense_variant False SPTAN1@p.L575V 1 0.2734375 ENSG00000197694 chr9:128582766-128582766;C/G missense_variant False SPTAN1@p.K1089N 1 0.449438202 ENSG00000197694 chr9:128594226-128594226;G/C missense_variant False SPTAN1@p.E2152K 1 0.26 ENSG00000197694 chr9:128626580-128626580;G/A missense_variant False SPTAN1@p.H866N 1 0.769230769 ENSG00000197694 chr9:128585783-128585783;C/A missense_variant False SPTAN1@p.F2093Sfs*2 1 0.256 ENSG00000197694 chr9:128626403-128626403;T/- frameshift_variant False SPTAN1@p.E796Q 1 0.318181818 ENSG00000197694 chr9:128584474-128584474;G/C missense_variant False SPTAN1@p.E422K 1 0.951219512 ENSG00000197694 chr9:128579679-128579679;G/A missense_variant False SPTAN1@p.E2366K 1 0.626262626 ENSG00000197694 chr9:128632669-128632669;G/A missense_variant False SPTAN1@p.E2246K 1 0.385964912 ENSG00000197694 chr9:128630364-128630364;G/A missense_variant False SPTA1@p.Q1169H 1 0.232142857 ENSG00000163554 chr1:158649918-158649918;C/G missense_variant False SPTA1@p.P1050T 1 0.412371134 ENSG00000163554 chr1:158653314-158653314;G/T missense_variant False SPTA1@p.L1857F 1 0.12244898 ENSG00000163554 chr1:158627718-158627718;C/A missense_variant False SPTA1@p.A1968V 1 0.08974359 ENSG00000163554 chr1:158626153-158626153;G/A missense_variant False SPTA1@p.D2345E 1 0.181818182 ENSG00000163554 chr1:158612916-158612916;G/C missense_variant False SPTA1@p.D1320E 1 0.248091603 ENSG00000163554 chr1:158645531-158645531;G/T missense_variant False SPTA1@p.D1037N 1 0.134615385 ENSG00000163554 chr1:158653353-158653353;C/T missense_variant False SPTA1@p.A391T 1 0.046511628 ENSG00000163554 chr1:158674617-158674617;C/T missense_variant False SPTA1@p.A263T 1 0.163934426 ENSG00000163554 chr1:158678426-158678426;C/T missense_variant False SPTA1@p.A21E 1 0.784810127 ENSG00000163554 chr1:158685310-158685310;G/T missense_variant False SPSB4@p.R95H 1 0.384615385 ENSG00000175093 chr3:141066388-141066388;G/A missense_variant False SPTA1@p.L1709F 1 0.078341014 ENSG00000163554 chr1:158638095-158638095;C/G missense_variant False SPSB4@p.I227M 1 0.322033898 ENSG00000175093 chr3:141066785-141066785;C/G missense_variant False SPSB3@p.S336F 1 0.066666667 ENSG00000162032 chr16:1777158-1777158;G/A missense_variant False SPSB3@p.S212L 1 0.236842105 ENSG00000162032 chr16:1777833-1777833;G/A missense_variant False SPSB3@p.L231I 1 0.269230769 ENSG00000162032 chr16:1777777-1777777;G/T missense_variant False SPSB2@p.W91L 1 0.093023256 ENSG00000111671 chr12:6872630-6872630;C/A missense_variant False SPSB2@p.S128R 1 0.28 ENSG00000111671 chr12:6872518-6872518;G/C missense_variant False SPTA1@p.D430N 1 0.41958042 ENSG00000163554 chr1:158674391-158674391;C/T missense_variant False SPTA1@p.E1269D 1 0.103448276 ENSG00000163554 chr1:158647628-158647628;C/A missense_variant False SPTA1@p.E1283D 1 0.064516129 ENSG00000163554 chr1:158647586-158647586;C/G missense_variant False SPTA1@p.E1627K 1 0.207792208 ENSG00000163554 chr1:158639683-158639683;C/T missense_variant False SPTA1@p.E185D 1 0.113636364 ENSG00000163554 chr1:158680706-158680706;C/G missense_variant False SPTA1@p.E185Q 1 0.37254902 ENSG00000163554 chr1:158680708-158680708;C/G missense_variant False SPTA1@p.E2064Q 1 0.352941176 ENSG00000163554 chr1:158620397-158620397;C/G missense_variant False SPTA1@p.E2337Q 1 0.173076923 ENSG00000163554 chr1:158612942-158612942;C/G missense_variant False SPTA1@p.E310K 1 0.370967742 ENSG00000163554 chr1:158677719-158677719;C/T missense_variant False SPTA1@p.E322K 1 0.137254902 ENSG00000163554 chr1:158676289-158676289;C/T missense_variant False SPTA1@p.E467K 1 0.185185185 ENSG00000163554 chr1:158672148-158672148;C/T missense_variant False SPTA1@p.E813K 1 0.135135135 ENSG00000163554 chr1:158662729-158662729;C/T missense_variant False SPTA1@p.G2220R 1 0.276119403 ENSG00000163554 chr1:158615346-158615346;C/T missense_variant False SPTA1@p.G716R 1 0.533333333 ENSG00000163554 chr1:158666390-158666390;C/T missense_variant False SPTA1@p.I1137M 1 0.167763158 ENSG00000163554 chr1:158651433-158651433;G/C missense_variant False SPTA1@p.K1732T 1 0.226086957 ENSG00000163554 chr1:158636756-158636756;T/G missense_variant False SPTA1@p.K602I 1 0.337278107 ENSG00000163554 chr1:158669436-158669436;T/A missense_variant False SPTAN1@p.Q404Kfs*35 1 0.613636364 ENSG00000197694 chr9:128578233-128578233;C/- frameshift_variant False SPTAN1@p.Q740E 1 0.375 ENSG00000197694 chr9:128584306-128584306;C/G missense_variant False SPTAN1@p.R1280Gfs*7 1 0.264705882 ENSG00000197694 chr9:128605149-128605150;GA/- frameshift_variant False SPTBN4@p.E1865K 1 0.236363636 ENSG00000160460 chr19:40557326-40557326;G/A missense_variant False SPTBN4@p.Q1849H 1 0.308823529 ENSG00000160460 chr19:40557280-40557280;G/C missense_variant False SPTBN4@p.M983I 1 0.172413793 ENSG00000160460 chr19:40519446-40519446;G/A missense_variant False SPTBN4@p.L186V 1 0.310344828 ENSG00000160460 chr19:40493023-40493023;C/G missense_variant False SPTBN4@p.I396M 1 0.197802198 ENSG00000160460 chr19:40502492-40502492;C/G missense_variant False SPTBN4@p.E447K 1 0.2125 ENSG00000160460 chr19:40502910-40502910;G/A missense_variant False SPTBN4@p.E2504K 1 0.310344828 ENSG00000160460 chr19:40572354-40572354;G/A missense_variant False SPTBN4@p.E1172K 1 0.294117647 ENSG00000160460 chr19:40520011-40520011;G/A missense_variant False SPTBN2@p.Q1390H 1 0.295918367 ENSG00000173898 chr11:66696385-66696385;C/G missense_variant False SPTBN4@p.D915N 1 0.727272727 ENSG00000160460 chr19:40513532-40513532;G/A missense_variant False SPTBN4@p.D259E 1 0.588235294 ENSG00000160460 chr19:40497597-40497597;T/A missense_variant False SPTBN4@p.D1435H 1 0.140625 ENSG00000160460 chr19:40534287-40534287;G/C missense_variant False SPTBN4@p.A1944S 1 0.320512821 ENSG00000160460 chr19:40560318-40560318;G/T missense_variant False SPTBN2@p.T1643S 1 0.274336283 ENSG00000173898 chr11:66693027-66693027;G/C missense_variant False SPTBN2@p.R2211G 1 0.391891892 ENSG00000173898 chr11:66687518-66687518;G/C missense_variant False SPTBN4@p.R246P 1 0.15625 ENSG00000160460 chr19:40497557-40497557;G/C missense_variant False SPTBN4@p.S340F 1 0.227848101 ENSG00000160460 chr19:40502249-40502249;C/T missense_variant False SPTBN4@p.S602F 1 0.053571429 ENSG00000160460 chr19:40506375-40506375;C/T missense_variant False SPTBN4@p.V1938I 1 0.207100592 ENSG00000160460 chr19:40560300-40560300;G/A missense_variant False SPTBN5@p.A2845P 1 0.466666667 ENSG00000137877 chr15:41857326-41857326;C/G missense_variant False SPTBN5@p.A2845V 1 0.5 ENSG00000137877 chr15:41857325-41857325;G/A missense_variant False SPTBN5@p.E137D 1 0.545454545 ENSG00000137877 chr15:41890179-41890179;C/A missense_variant False SPTBN5@p.E2939Q 1 0.235294118 ENSG00000137877 chr15:41856592-41856592;C/G missense_variant False SPTBN5@p.E41K 1 0.179487179 ENSG00000137877 chr15:41893377-41893377;C/T missense_variant False SPTBN5@p.P3624S 1 0.533333333 ENSG00000137877 chr15:41850905-41850905;G/A missense_variant False SPTBN5@p.P827A 1 0.14893617 ENSG00000137877 chr15:41881213-41881213;G/C missense_variant False SPTBN5@p.Q1088L 1 0.244444444 ENSG00000137877 chr15:41878549-41878549;T/A missense_variant False SPTBN5@p.S2340R 1 0.848484848 ENSG00000137877 chr15:41863923-41863923;G/T missense_variant False SPTBN5@p.S38F 1 0.375 ENSG00000137877 chr15:41893385-41893385;G/A missense_variant False SPTBN5@p.V1091Gfs*2 1 0.3125 ENSG00000137877 chr15:41878518-41878540;CTGGCGCCGGGCCCGTTGGGCCA/- frameshift_variant False SPTBN5@p.Y311H 1 0.130434783 ENSG00000137877 chr15:41886324-41886324;A/G missense_variant False SPTLC1@p.L109F 1 0.24691358 ENSG00000090054 chr9:92080899-92080899;G/A missense_variant False SPTBN2@p.R2085Q 1 0.608695652 ENSG00000173898 chr11:66688289-66688289;C/T missense_variant False SPTBN2@p.P29L 1 0.321167883 ENSG00000173898 chr11:66721155-66721155;G/A missense_variant False SPTAN1@p.S360L 1 0.157303371 ENSG00000197694 chr9:128577500-128577500;C/T missense_variant False SPTB@p.R1431G 1 0.075342466 ENSG00000070182 chr14:64779907-64779907;G/C missense_variant False SPTBN1@p.E2312K 1 0.145454545 ENSG00000115306 chr2:54668408-54668408;G/A missense_variant False SPTBN1@p.E1222Q 1 0.263157895 ENSG00000115306 chr2:54632665-54632665;G/C missense_variant False SPTBN1@p.D218H 1 0.086956522 ENSG00000115306 chr2:54618082-54618082;G/C missense_variant False SPTB@p.S795N 1 0.101265823 ENSG00000070182 chr14:64793279-64793279;C/T missense_variant False SPTB@p.S2306F 1 0.291666667 ENSG00000070182 chr14:64749376-64749376;G/A missense_variant False SPTB@p.S2278T 1 0.368421053 ENSG00000070182 chr14:64749461-64749461;A/T missense_variant False SPTB@p.R1155S 1 0.291666667 ENSG00000070182 chr14:64786500-64786500;C/G missense_variant False SPTBN2@p.L946M 1 0.3125 ENSG00000173898 chr11:66701263-66701263;G/T missense_variant False SPTB@p.M1340L 1 0.701754386 ENSG00000070182 chr14:64782538-64782538;T/A missense_variant False SPTB@p.E2022Q 1 0.183673469 ENSG00000070182 chr14:64767818-64767818;C/G missense_variant False SPTB@p.E1595K 1 0.277777778 ENSG00000070182 chr14:64775184-64775184;C/T missense_variant False SPTB@p.E1457K 1 0.226190476 ENSG00000070182 chr14:64779829-64779829;C/T missense_variant False SPTAN1@p.T798M 1 0.217391304 ENSG00000197694 chr9:128584481-128584481;C/T missense_variant False SPTAN1@p.S809C 1 0.277777778 ENSG00000197694 chr9:128584514-128584514;C/G missense_variant False SPTBN1@p.G1203A 1 0.43877551 ENSG00000115306 chr2:54632609-54632609;G/C missense_variant False SPTBN1@p.G919R 1 0.285714286 ENSG00000115306 chr2:54629977-54629977;G/C missense_variant False SPTBN1@p.K1434E 1 0.065217391 ENSG00000115306 chr2:54645259-54645259;A/G missense_variant False SPTBN1@p.L120Sfs*3 1 0.19047619 ENSG00000115306 chr2:54612217-54612220;CCTT/- frameshift_variant False SPTBN1@p.L1309V 1 0.153153153 ENSG00000115306 chr2:54643049-54643049;C/G missense_variant False SPTBN1@p.L2266P 1 0.111111111 ENSG00000115306 chr2:54666052-54666052;T/C missense_variant False SPTBN1@p.M1121I 1 0.368421053 ENSG00000115306 chr2:54631410-54631410;G/A missense_variant False SPTBN1@p.N1163Sfs*23 1 0.3375 ENSG00000115306 chr2:54631532-54631533;AA/- frameshift_variant False SPTBN1@p.R1999W 1 0.127272727 ENSG00000115306 chr2:54655947-54655947;A/T missense_variant False SPTBN1@p.S1945C 1 0.416666667 ENSG00000115306 chr2:54655081-54655081;C/G missense_variant False SPTBN1@p.V2334L 1 0.463768116 ENSG00000115306 chr2:54668474-54668474;G/C missense_variant False SPTBN2@p.A405V 1 0.5 ENSG00000173898 chr11:66708277-66708277;G/A missense_variant False SPTBN2@p.D758N 1 0.448979592 ENSG00000173898 chr11:66705004-66705004;C/T missense_variant False SPTBN2@p.E1308K 1 0.142857143 ENSG00000173898 chr11:66698731-66698731;C/T missense_variant False SPTBN2@p.E424Q 1 0.783783784 ENSG00000173898 chr11:66708221-66708221;C/G missense_variant False SPTBN2@p.E574K 1 0.25 ENSG00000173898 chr11:66705771-66705771;C/T missense_variant False SPTBN2@p.E869Q 1 0.333333333 ENSG00000173898 chr11:66704671-66704671;C/G missense_variant False SPSB2@p.I57M 1 0.429411765 ENSG00000111671 chr12:6872731-6872731;G/C missense_variant False SPSB2@p.G132C 1 0.183544304 ENSG00000111671 chr12:6872508-6872508;C/A missense_variant False SPSB2@p.D76N 1 0.110169492 ENSG00000111671 chr12:6872676-6872676;C/T missense_variant False SPN@p.E380K 1 0.25 ENSG00000197471 chr16:29664866-29664866;G/A missense_variant False SPNS1@p.S277F 1 0.050505051 ENSG00000169682 chr16:28981921-28981921;C/T missense_variant False SPNS1@p.R184Q 1 0.266009852 ENSG00000169682 chr16:28979261-28979261;G/A missense_variant False SPNS1@p.R124W 1 0.333333333 ENSG00000169682 chr16:28977970-28977970;C/T missense_variant False SPNS1@p.L406M 1 0.408450704 ENSG00000169682 chr16:28982917-28982917;C/A missense_variant False SPNS1@p.L127V 1 0.426229508 ENSG00000169682 chr16:28977979-28977979;C/G missense_variant False SPNS1@p.E40K 1 0.5 ENSG00000169682 chr16:28975269-28975269;G/A missense_variant False SPN@p.A122E 1 0.14 ENSG00000197471 chr16:29664093-29664093;C/A missense_variant False SPINT4@p.R87H 1 0.487012987 ENSG00000149651 chr20:45724024-45724024;G/A missense_variant False SPIRE2@p.R119H 1 0.318181818 ENSG00000204991 chr16:89850371-89850371;G/A missense_variant False SPIRE2@p.L372V 1 0.206303725 ENSG00000204991 chr16:89858349-89858349;C/G missense_variant False SPIRE2@p.E621Q 1 0.256410256 ENSG00000204991 chr16:89869621-89869621;G/C missense_variant False SPIRE2@p.E329Q 1 0.5 ENSG00000204991 chr16:89856119-89856119;G/C missense_variant False SPIRE2@p.A232G 1 0.625 ENSG00000204991 chr16:89854335-89854335;C/G missense_variant False SPIRE1@p.M426V 1 0.611111111 ENSG00000134278 chr18:12479827-12479827;T/C missense_variant False SPNS2@p.D484N 1 0.508196721 ENSG00000183018 chr17:4536269-4536269;G/A missense_variant False SPNS2@p.S475R 1 0.206896552 ENSG00000183018 chr17:4536156-4536156;C/A missense_variant False SPNS2@p.S483L 1 0.170731707 ENSG00000183018 chr17:4536267-4536267;C/T missense_variant False SPNS3@p.A157T 1 0.490566038 ENSG00000182557 chr17:4446114-4446114;G/A missense_variant False SPNS3@p.I344M 1 0.882758621 ENSG00000182557 chr17:4453124-4453124;C/G missense_variant False SPO11@p.A63T 1 0.417910448 ENSG00000054796 chr20:57331888-57331888;G/A missense_variant False SPO11@p.C194S 1 0.229166667 ENSG00000054796 chr20:57334820-57334820;G/C missense_variant False SPO11@p.D363N 1 0.352112676 ENSG00000054796 chr20:57343356-57343356;G/A missense_variant False SPO11@p.F392L 1 0.092198582 ENSG00000054796 chr20:57343443-57343443;T/C missense_variant False SPO11@p.N80Tfs*2 1 0.172727273 ENSG00000054796 chr20:57331937-57331937;A/- frameshift_variant False SPO11@p.S364C 1 0.283333333 ENSG00000054796 chr20:57343360-57343360;C/G missense_variant False SPOCD1@p.E144D 1 0.303797468 ENSG00000134668 chr1:31814902-31814902;C/G missense_variant False SPOCD1@p.I1083M 1 0.425531915 ENSG00000134668 chr1:31791005-31791005;G/C missense_variant False SPOCD1@p.K1045N 1 0.37037037 ENSG00000134668 chr1:31791119-31791119;C/G missense_variant False SPOCD1@p.K423N 1 0.452054795 ENSG00000134668 chr1:31814065-31814065;C/G missense_variant False SPOCD1@p.Q1034E 1 0.472222222 ENSG00000134668 chr1:31791154-31791154;G/C missense_variant False SPOCD1@p.Q1049E 1 0.4375 ENSG00000134668 chr1:31791109-31791109;G/C missense_variant False SPIRE1@p.I391S 1 0.186046512 ENSG00000134278 chr18:12493089-12493089;A/C missense_variant False SPINT2@p.W54S 1 0.257142857 ENSG00000167642 chr19:38283681-38283681;G/C missense_variant False SPOCD1@p.S317L 1 0.35 ENSG00000134668 chr1:31814384-31814384;G/A missense_variant False SPIN2A@p.E138K 1 0.264705882 ENSG00000147059 chrX:57136186-57136186;C/T missense_variant False SPINDOC@p.E300K 1 0.142857143 ENSG00000168005 chr11:63818966-63818966;G/A missense_variant False SPIN4@p.D82H 1 0.19047619 ENSG00000186767 chrX:63350576-63350576;C/G missense_variant False SPIN3@p.G57R 1 0.241176471 ENSG00000204271 chrX:56994779-56994779;C/T missense_variant False SPIN3@p.E97Q 1 0.432692308 ENSG00000204271 chrX:56994659-56994659;C/G missense_variant False SPIN3@p.D121N 1 0.217391304 ENSG00000204271 chrX:56994587-56994587;C/T missense_variant False SPIN2A@p.E138Q 1 0.258278146 ENSG00000147059 chrX:57136186-57136186;C/G missense_variant False SPIN1@p.M162I 1 0.410852713 ENSG00000169682 chr9:88468502-88468502;G/A missense_variant False SPINT2@p.V246_L252del 1 0.21875 ENSG00000167642 chr19:38291980-38292000;CTGGTGAAGAACACATATGTC/- inframe_deletion False SPIDR@p.V890I 1 0.577777778 ENSG00000164808 chr8:47735370-47735370;G/A missense_variant False SPIDR@p.V378I 1 0.504065041 ENSG00000164808 chr8:47595845-47595845;G/A missense_variant False SPIDR@p.S296C 1 0.35483871 ENSG00000164808 chr8:47440332-47440332;C/G missense_variant False SPIDR@p.R454H 1 0.166666667 ENSG00000164808 chr8:47599013-47599013;G/A missense_variant False SPIDR@p.R217T 1 0.272727273 ENSG00000164808 chr8:47396500-47396500;G/C missense_variant False SPIDR@p.P205L 1 0.135135135 ENSG00000164808 chr8:47396464-47396464;C/T missense_variant False SPINDOC@p.G319R 1 0.296296296 ENSG00000168005 chr11:63826948-63826948;G/A missense_variant False SPINDOC@p.Q113H 1 0.171875 ENSG00000168005 chr11:63818016-63818016;G/C missense_variant False SPINDOC@p.S367Y 1 0.186046512 ENSG00000168005 chr11:63827093-63827093;C/A missense_variant False SPINK2@p.G43E 1 0.116402116 ENSG00000128040 chr4:56811766-56811766;C/T missense_variant False SPINK5@p.E204K 1 0.25 ENSG00000133710 chr5:148091172-148091172;G/A missense_variant False SPINK5@p.E213K 1 0.517241379 ENSG00000133710 chr5:148091199-148091199;G/A missense_variant False SPINK5@p.E284K 1 0.525 ENSG00000133710 chr5:148095873-148095873;G/A missense_variant False SPINK5@p.E439K 1 0.096774194 ENSG00000133710 chr5:148101793-148101793;G/A missense_variant False SPINK5@p.E827K 1 0.466666667 ENSG00000133710 chr5:148120332-148120332;G/A missense_variant False SPINK5@p.Q278E 1 0.47 ENSG00000133710 chr5:148095855-148095855;C/G missense_variant False SPINK5@p.Q52E 1 0.549019608 ENSG00000133710 chr5:148070395-148070395;C/G missense_variant False SPINK5@p.R383T 1 0.471698113 ENSG00000133710 chr5:148100509-148100509;G/C missense_variant False SPINK7@p.E63Q 1 0.245283019 ENSG00000145879 chr5:148314199-148314199;G/C missense_variant False SPINK8@p.K44N 1 0.294117647 ENSG00000229453 chr3:48319604-48319604;C/G missense_variant False SPINT1@p.K428N 1 0.071428571 ENSG00000166145 chr15:40856010-40856010;G/C missense_variant False SPINT1@p.S68L 1 0.133333333 ENSG00000166145 chr15:40844757-40844757;C/T missense_variant False SPINT2@p.E188D 1 0.709677419 ENSG00000167642 chr19:38290547-38290547;G/C missense_variant False SPOCD1@p.R931T 1 0.321428571 ENSG00000134668 chr1:31792385-31792385;C/G missense_variant False SPOCD1@p.S410L 1 0.181818182 ENSG00000134668 chr1:31814105-31814105;G/A missense_variant False SPRYD4@p.E143Q 1 0.109375 ENSG00000176422 chr12:56469380-56469380;G/C missense_variant False SPRING1@p.R43T 1 0.137931034 ENSG00000111412 chr12:116723207-116723207;C/G missense_variant False SPRR2A@p.C12F 1 0.164835165 ENSG00000241794 chr1:153056701-153056701;C/A missense_variant False SPRR1B@p.P70S 1 0.350993377 ENSG00000169469 chr1:153032553-153032553;C/T missense_variant False SPRR1B@p.H66Y 1 0.176470588 ENSG00000169469 chr1:153032541-153032541;C/T missense_variant False SPRR1A@p.E55Q 1 0.033755274 ENSG00000169474 chr1:152985393-152985393;G/C missense_variant False SPRR1A@p.E39K 1 0.177142857 ENSG00000169474 chr1:152985345-152985345;G/A missense_variant False SPRN@p.L11V 1 0.3 ENSG00000203772 chr10:133423651-133423651;G/C missense_variant False SPRED3@p.S121F 1 0.4 ENSG00000188766 chr19:38392227-38392227;C/T missense_variant False SPRED1@p.R349S 1 0.182389937 ENSG00000166068 chr15:38351376-38351376;G/T missense_variant False SPRED3@p.R218H 1 0.363636364 ENSG00000188766 chr19:38395565-38395565;G/A missense_variant False SPRED3@p.A108V 1 0.06504065 ENSG00000188766 chr19:38392091-38392091;C/T missense_variant False SPRED2@p.S286N 1 0.291666667 ENSG00000198369 chr2:65313901-65313901;C/T missense_variant False SPRED2@p.H352Y 1 0.181818182 ENSG00000198369 chr2:65313704-65313704;G/A missense_variant False SPRED2@p.H182Y 1 0.257142857 ENSG00000198369 chr2:65316778-65316778;G/A missense_variant False SPRED2@p.D94N 1 0.184782609 ENSG00000198369 chr2:65334698-65334698;C/T missense_variant False SPRR2D@p.S2F 1 0.634408602 ENSG00000163216 chr1:153040342-153040342;G/A missense_variant False SPRR2F@p.S39P 1 0.212598425 ENSG00000244094 chr1:153112619-153112619;A/G missense_variant False SPRTN@p.E470K 1 0.160714286 ENSG00000010072 chr1:231353299-231353299;G/A missense_variant False SPRTN@p.E65Q 1 0.1875 ENSG00000010072 chr1:231338576-231338576;G/C missense_variant False SPRY2@p.C221Y 1 0.328125 ENSG00000136158 chr13:80337044-80337044;C/T missense_variant False SPRY2@p.E169K 1 0.447368421 ENSG00000136158 chr13:80337201-80337201;C/T missense_variant False SPRY2@p.H228D 1 0.270833333 ENSG00000136158 chr13:80337024-80337024;G/C missense_variant False SPRY2@p.K294T 1 0.413043478 ENSG00000136158 chr13:80336825-80336825;T/G missense_variant False SPRY2@p.R50Q 1 0.21875 ENSG00000136158 chr13:80337557-80337557;C/T missense_variant False SPRY3@p.D52H 1 0.181818182 ENSG00000168939 chrX:155774025-155774025;G/C missense_variant False SPRY3@p.E179K 1 0.355932203 ENSG00000168939 chrX:155774406-155774406;G/A missense_variant False SPRY3@p.G243E 1 0.129032258 ENSG00000168939 chrX:155774599-155774599;G/A missense_variant False SPRY4@p.H28Y 1 0.236842105 ENSG00000187678 chr5:142315027-142315027;G/A missense_variant False SPRY4@p.L22V 1 0.490566038 ENSG00000187678 chr5:142315045-142315045;G/C missense_variant False SPRY4@p.V120L 1 0.365384615 ENSG00000187678 chr5:142314751-142314751;C/A missense_variant False SPRYD3@p.E431D 1 0.47826087 ENSG00000167778 chr12:53065868-53065868;C/G missense_variant False SPRYD3@p.I324N 1 0.322580645 ENSG00000167778 chr12:53066623-53066623;A/T missense_variant False SPRED2@p.D248V 1 0.345454545 ENSG00000198369 chr2:65314015-65314015;T/A missense_variant False SPRED1@p.R169T 1 0.117647059 ENSG00000166068 chr15:38339819-38339819;G/C missense_variant False SPOCK1@p.G294V 1 0.303030303 ENSG00000152377 chr5:136988469-136988469;C/A missense_variant False SPON1@p.L335R 1 0.381818182 ENSG00000262655 chr11:14254641-14254641;T/G missense_variant False SPOPL@p.D130N 1 0.126984127 ENSG00000144228 chr2:138552589-138552589;G/A missense_variant False SPOP@p.E47K 1 0.446428571 ENSG00000121067 chr17:49622007-49622007;C/T missense_variant True SPOP@p.E210Q 1 0.463687151 ENSG00000121067 chr17:49611310-49611310;C/G missense_variant True SPON2@p.P235S 1 0.158730159 ENSG00000159674 chr4:1170510-1170510;G/A missense_variant False SPON1@p.W326R 1 0.266666667 ENSG00000262655 chr11:14254613-14254613;T/A missense_variant False SPON1@p.R691Q 1 0.740740741 ENSG00000262655 chr11:14262787-14262787;G/A missense_variant False SPON1@p.E552K 1 0.285714286 ENSG00000262655 chr11:14259441-14259441;G/A missense_variant False SPRED1@p.I81* 1 0.181818182 ENSG00000166068 chr15:38322274-38322317;ATTTATAATAAGGTCACTCCAACATTTCACCACTGGAAGATTGA/- frameshift_variant False SPON1@p.D649H 1 0.222222222 ENSG00000262655 chr11:14260701-14260701;G/C missense_variant False SPOCK3@p.S5L 1 0.363636364 ENSG00000196104 chr4:167234160-167234160;G/A missense_variant False SPOCK3@p.D430V 1 0.130434783 ENSG00000196104 chr4:166734943-166734943;T/A missense_variant False SPOCK3@p.C139R 1 0.341463415 ENSG00000196104 chr4:166912688-166912688;A/G missense_variant False SPOCK1@p.P186S 1 0.273381295 ENSG00000152377 chr5:137067748-137067748;G/A missense_variant False SPOCK1@p.H349N 1 0.132075472 ENSG00000152377 chr5:136979416-136979416;G/T missense_variant False SPOPL@p.D271H 1 0.285714286 ENSG00000144228 chr2:138560901-138560901;G/C missense_variant False SPOPL@p.I322V 1 0.161971831 ENSG00000144228 chr2:138564834-138564834;A/G missense_variant False SPP1@p.D92Y 1 0.587301587 ENSG00000118785 chr4:87981532-87981532;G/T missense_variant False SPP1@p.R248W 1 0.186046512 ENSG00000118785 chr4:87982693-87982693;C/T missense_variant False SPP2@p.R62W 1 0.64 ENSG00000072080 chr2:234051069-234051069;C/T missense_variant False SPPL2A@p.V385I 1 0.122807018 ENSG00000138600 chr15:50725317-50725317;C/T missense_variant False SPPL2A@p.W490C 1 0.217948718 ENSG00000138600 chr15:50719958-50719958;C/G missense_variant False SPPL2B@p.Q549H 1 0.081081081 ENSG00000005206 chr19:2353077-2353077;G/T missense_variant False SPPL2C@p.G225D 1 0.409090909 ENSG00000185294 chr17:45845580-45845580;G/A missense_variant False SPPL2C@p.L672F 1 0.155555556 ENSG00000185294 chr17:45846922-45846922;G/C missense_variant False SPPL2C@p.P139A 1 0.27027027 ENSG00000185294 chr17:45845321-45845321;C/G missense_variant False SPPL2C@p.R215W 1 0.136363636 ENSG00000185294 chr17:45845549-45845549;C/T missense_variant False SPPL3@p.R308Pfs*17 1 0.137254902 ENSG00000157837 chr12:120767444-120767444;C/- frameshift_variant False SPR@p.N121Pfs*21 1 0.142011834 ENSG00000116096 chr2:72888368-72888405;TGAACAACTACTGGGCACTGAACTTGACCTCCATGCTC/- frameshift_variant False SPRED1@p.E373K 1 0.278911565 ENSG00000166068 chr15:38351446-38351446;G/A missense_variant False SPRED1@p.E373Q 1 0.161616162 ENSG00000166068 chr15:38351446-38351446;G/C missense_variant False SPRED1@p.G62E 1 0.071428571 ENSG00000166068 chr15:38299525-38299525;G/A missense_variant False SPAST@p.D584N 1 0.305555556 ENSG00000021574 chr2:32154395-32154395;G/A missense_variant False SPART@p.S257C 1 0.248275862 ENSG00000133104 chr13:36335061-36335061;G/C missense_variant False SNAP91@p.P680S 1 0.137931034 ENSG00000065609 chr6:83582333-83582333;G/A missense_variant False SNX32@p.L374F 1 0.103448276 ENSG00000172803 chr11:65852920-65852920;C/T missense_variant False SNX33@p.F51L 1 0.285714286 ENSG00000173548 chr15:75649255-75649255;T/G missense_variant False SNX33@p.E57K 1 0.333333333 ENSG00000173548 chr15:75649271-75649271;G/A missense_variant False SNX33@p.E195K 1 0.214285714 ENSG00000173548 chr15:75649685-75649685;G/A missense_variant False SNX33@p.E110Q 1 0.125 ENSG00000173548 chr15:75649430-75649430;G/C missense_variant False SNX33@p.D10G 1 0.278481013 ENSG00000173548 chr15:75649131-75649131;A/G missense_variant False SNX32@p.S246L 1 0.254237288 ENSG00000172803 chr11:65851355-65851355;C/T missense_variant False SNX32@p.I245M 1 0.105263158 ENSG00000172803 chr11:65851353-65851353;C/G missense_variant False SNX33@p.M545I 1 0.142011834 ENSG00000173548 chr15:75657125-75657125;G/T missense_variant False SNX32@p.E95Q 1 0.163934426 ENSG00000172803 chr11:65850180-65850180;G/C missense_variant False SNX32@p.A73S 1 0.573770492 ENSG00000172803 chr11:65849995-65849995;G/T missense_variant False SNX31@p.Y413C 1 0.511278195 ENSG00000174226 chr8:100573950-100573950;T/C missense_variant False SNX31@p.S291Y 1 0.25698324 ENSG00000174226 chr8:100596745-100596745;G/T missense_variant False SNX31@p.S291C 1 0.358490566 ENSG00000174226 chr8:100596745-100596745;G/C missense_variant False SNX31@p.E344Q 1 0.053571429 ENSG00000174226 chr8:100588928-100588928;C/G missense_variant False SNX33@p.H533R 1 0.461538462 ENSG00000173548 chr15:75657088-75657088;A/G missense_variant False SNX33@p.P52S 1 0.490566038 ENSG00000173548 chr15:75649256-75649256;C/T missense_variant False SORCS1@p.P985A 1 0.8 ENSG00000108018 chr10:106611991-106611991;G/C missense_variant False SNX6@p.E126K 1 0.779661017 ENSG00000129515 chr14:34605648-34605648;C/T missense_variant False SNX7@p.F70L 1 0.384615385 ENSG00000162627 chr1:98684914-98684914;C/G missense_variant False SNX7@p.E448Q 1 0.155172414 ENSG00000162627 chr1:98760117-98760117;G/C missense_variant False SNX7@p.E445K 1 0.061538462 ENSG00000162627 chr1:98760108-98760108;G/A missense_variant False SNX7@p.D194N 1 0.184615385 ENSG00000162627 chr1:98691640-98691640;G/A missense_variant False SNX6@p.S283L 1 0.476744186 ENSG00000129515 chr14:34581583-34581583;G/A missense_variant False SNX6@p.N388K 1 0.310810811 ENSG00000129515 chr14:34567725-34567725;A/T missense_variant False SNX6@p.D219H 1 0.302631579 ENSG00000129515 chr14:34593144-34593144;C/G missense_variant False SNX33@p.S87N 1 0.558823529 ENSG00000173548 chr15:75649362-75649362;G/A missense_variant False SNX6@p.D113H 1 0.720930233 ENSG00000129515 chr14:34605687-34605687;C/G missense_variant False SNX5@p.E120K 1 0.062893082 ENSG00000089006 chr20:17954027-17954027;C/T missense_variant False SNX5@p.D43N 1 0.366666667 ENSG00000089006 chr20:17956962-17956962;C/T missense_variant False SNX4@p.E41Q 1 0.192307692 ENSG00000114520 chr3:125520052-125520052;C/G missense_variant False SNX3@p.R139S 1 0.340425532 ENSG00000112335 chr6:108212223-108212223;G/T missense_variant False SNX3@p.E148K 1 0.21875 ENSG00000112335 chr6:108212196-108212196;C/T missense_variant False SNX31@p.D333N 1 0.444444444 ENSG00000174226 chr8:100588961-100588961;C/T missense_variant False SNX31@p.A220V 1 0.28358209 ENSG00000174226 chr8:100608516-100608516;G/A missense_variant False SNX30@p.R186T 1 0.155555556 ENSG00000148158 chr9:112830822-112830822;G/C missense_variant False SNX20@p.R115Q 1 0.369230769 ENSG00000167208 chr16:50674013-50674013;C/T missense_variant False SNX25@p.D675N 1 0.119565217 ENSG00000109762 chr4:185353533-185353533;G/A missense_variant False SNX22@p.D129N 1 0.552631579 ENSG00000157734 chr15:64153677-64153677;G/A missense_variant False SNX21@p.E327Q 1 0.419753086 ENSG00000124104 chr20:45841170-45841170;G/C missense_variant False SNX21@p.D48N 1 0.290322581 ENSG00000124104 chr20:45834321-45834321;G/A missense_variant False SNX20@p.T185K 1 0.166666667 ENSG00000167208 chr16:50673803-50673803;G/T missense_variant False SNX20@p.R84G 1 0.12987013 ENSG00000167208 chr16:50675802-50675802;G/C missense_variant False SNX20@p.D119N 1 0.168141593 ENSG00000167208 chr16:50674002-50674002;C/T missense_variant False SNX30@p.R112T 1 0.283464567 ENSG00000148158 chr9:112804954-112804954;G/C missense_variant False SNX1@p.P516T 1 0.441860465 ENSG00000028528 chr15:64137595-64137595;C/A missense_variant False SNX1@p.E195K 1 0.3375 ENSG00000028528 chr15:64126151-64126151;G/A missense_variant False SNX19@p.R272T 1 0.134146341 ENSG00000120451 chr11:130915125-130915125;C/G missense_variant False SNX19@p.L45V 1 0.216981132 ENSG00000120451 chr11:130915807-130915807;G/C missense_variant False SNX19@p.K719N 1 0.134831461 ENSG00000120451 chr11:130907961-130907961;C/A missense_variant False SNX19@p.G63Afs*41 1 0.351351351 ENSG00000120451 chr11:130915737-130915752;CTGGAGCCCAGCCATC/- frameshift_variant False SNX25@p.E255K 1 0.133333333 ENSG00000109762 chr4:185310727-185310727;G/A missense_variant False SNX25@p.E358Q 1 0.384615385 ENSG00000109762 chr4:185323615-185323615;G/C missense_variant False SNX25@p.L104V 1 0.386666667 ENSG00000109762 chr4:185264508-185264508;C/G missense_variant False SNX25@p.N153D 1 0.37037037 ENSG00000109762 chr4:185267013-185267013;A/G missense_variant False SNX25@p.R163K 1 0.269230769 ENSG00000109762 chr4:185267044-185267044;G/A missense_variant False SNX27@p.E322K 1 0.262135922 ENSG00000143376 chr1:151665990-151665990;G/A missense_variant False SNX27@p.H339Y 1 0.126482213 ENSG00000143376 chr1:151668501-151668501;C/T missense_variant False SNX27@p.K394E 1 0.257142857 ENSG00000143376 chr1:151683386-151683386;A/G missense_variant False SNX27@p.V167I 1 0.390977444 ENSG00000143376 chr1:151639075-151639075;G/A missense_variant False SNX29@p.G449R 1 0.214285714 ENSG00000048471 chr16:12078858-12078858;G/A missense_variant False SNX29@p.R506Q 1 0.266666667 ENSG00000048471 chr16:12129680-12129680;G/A missense_variant False SNX29@p.S268L 1 0.174603175 ENSG00000048471 chr16:12051901-12051901;C/T missense_variant False SNX29@p.T200M 1 0.163043478 ENSG00000048471 chr16:12048471-12048471;C/T missense_variant False SNX2@p.E87K 1 0.431279621 ENSG00000205302 chr5:122799724-122799724;G/A missense_variant False SNX2@p.L282F 1 0.510204082 ENSG00000205302 chr5:122816962-122816962;G/C missense_variant False SNX2@p.V498I 1 0.28125 ENSG00000205302 chr5:122827629-122827629;G/A missense_variant False SNX30@p.L290W 1 0.3 ENSG00000148158 chr9:112838552-112838552;T/G missense_variant False SNX7@p.I85M 1 0.431578947 ENSG00000162627 chr1:98684959-98684959;C/G missense_variant False SNX7@p.Q272H 1 0.055555556 ENSG00000162627 chr1:98695694-98695694;G/C missense_variant False SNX7@p.S216F 1 0.393442623 ENSG00000162627 chr1:98695525-98695525;C/T missense_variant False SON@p.K2149T 1 0.369747899 ENSG00000159140 chr21:33559354-33559354;A/C missense_variant False SORBS1@p.D1109N 1 0.225 ENSG00000095637 chr10:95336835-95336835;C/T missense_variant False SON@p.Y1118F 1 0.297029703 ENSG00000159140 chr21:33552584-33552584;A/T missense_variant False SON@p.S331L 1 0.419354839 ENSG00000159140 chr21:33550223-33550223;C/T missense_variant False SON@p.S2003F 1 0.166666667 ENSG00000159140 chr21:33555239-33555239;C/T missense_variant False SON@p.S1843C 1 0.333333333 ENSG00000159140 chr21:33554759-33554759;C/G missense_variant False SON@p.S1595F 1 0.329545455 ENSG00000159140 chr21:33554015-33554015;C/T missense_variant False SON@p.I1728V 1 0.340248963 ENSG00000159140 chr21:33554413-33554413;A/G missense_variant False SOGA3@p.S689R 1 0.188405797 ENSG00000214338 chr6:127475959-127475959;G/C missense_variant False SON@p.H1857Y 1 0.222222222 ENSG00000159140 chr21:33554800-33554800;C/T missense_variant False SON@p.E426Q 1 0.428571429 ENSG00000159140 chr21:33550507-33550507;G/C missense_variant False SON@p.E293K 1 0.283333333 ENSG00000159140 chr21:33550108-33550108;G/A missense_variant False SON@p.E2090Q 1 0.476190476 ENSG00000159140 chr21:33557263-33557263;G/C missense_variant False SOHLH2@p.P390L 1 0.0625 ENSG00000120669 chr13:36170619-36170619;G/A missense_variant False SOHLH2@p.G184C 1 0.384615385 ENSG00000120669 chr13:36190037-36190037;C/A missense_variant False SORBS1@p.G133R 1 0.514285714 ENSG00000095637 chr10:95422005-95422005;C/G missense_variant False SORBS1@p.Q1089K 1 0.6875 ENSG00000095637 chr10:95336895-95336895;G/T missense_variant False SORBS1@p.S1024L 1 0.288888889 ENSG00000095637 chr10:95337089-95337089;G/A missense_variant False SORBS1@p.S1085L 1 0.151515152 ENSG00000095637 chr10:95336906-95336906;G/A missense_variant False SORBS1@p.S887F 1 0.056074766 ENSG00000095637 chr10:95341295-95341295;G/A missense_variant False SORBS1@p.Y1236C 1 0.476190476 ENSG00000095637 chr10:95318424-95318424;T/C missense_variant False SORBS2@p.E956Q 1 0.425 ENSG00000154556 chr4:185614848-185614848;C/G missense_variant False SORBS2@p.R437K 1 0.227848101 ENSG00000154556 chr4:185624107-185624107;C/T missense_variant False SORBS2@p.S287L 1 0.2 ENSG00000154556 chr4:185626894-185626894;G/A missense_variant False SORBS3@p.D345N 1 0.191489362 ENSG00000120896 chr8:22566427-22566427;G/A missense_variant False SORBS3@p.D52N 1 0.2625 ENSG00000120896 chr8:22554914-22554914;G/A missense_variant False SORBS3@p.S43F 1 0.401869159 ENSG00000120896 chr8:22554888-22554888;C/T missense_variant False SORCS1@p.A426V 1 0.139534884 ENSG00000108018 chr10:106699350-106699350;G/A missense_variant False SORCS1@p.D212N 1 0.367346939 ENSG00000108018 chr10:106829666-106829666;C/T missense_variant False SORCS1@p.D340E 1 0.135802469 ENSG00000108018 chr10:106730054-106730054;A/T missense_variant False SORCS1@p.E938K 1 0.227272727 ENSG00000108018 chr10:106618257-106618257;C/T missense_variant False SORCS1@p.G640A 1 0.173913043 ENSG00000108018 chr10:106675070-106675070;C/G missense_variant False SOGA3@p.S837T 1 0.261603376 ENSG00000214338 chr6:127475516-127475516;C/G missense_variant False SOGA3@p.S294C 1 0.117647059 ENSG00000214338 chr6:127515734-127515734;G/C missense_variant False SNX8@p.P51L 1 0.526315789 ENSG00000106266 chr7:2278248-2278248;G/A missense_variant False SOCS3@p.L176Q 1 0.09375 ENSG00000184557 chr17:78358569-78358569;A/T missense_variant False SOCS6@p.S360L 1 0.283018868 ENSG00000170677 chr18:70325747-70325747;C/T missense_variant False SOCS6@p.H204L 1 0.393617021 ENSG00000170677 chr18:70325279-70325279;A/T missense_variant False SOCS6@p.G328E 1 0.166666667 ENSG00000170677 chr18:70325651-70325651;G/A missense_variant False SOCS5@p.S416F 1 0.279069767 ENSG00000171150 chr2:46759777-46759777;C/T missense_variant False SOCS5@p.S127F 1 0.316666667 ENSG00000171150 chr2:46758910-46758910;C/T missense_variant False SOCS5@p.N321I 1 0.683098592 ENSG00000171150 chr2:46759492-46759492;A/T missense_variant False SOAT2@p.D154H 1 0.316831683 ENSG00000167780 chr12:53115406-53115406;G/C missense_variant False SOGA3@p.R672C 1 0.675 ENSG00000214338 chr6:127476012-127476012;G/A missense_variant False SOAT1@p.Q520E 1 0.042345277 ENSG00000057252 chr1:179351424-179351424;C/G missense_variant False SOAT1@p.P304S 1 0.348314607 ENSG00000057252 chr1:179342912-179342912;C/T missense_variant False SOAT1@p.P250L 1 0.100401606 ENSG00000057252 chr1:179341279-179341279;C/T missense_variant False SOAT1@p.F488L 1 0.28 ENSG00000057252 chr1:179351330-179351330;C/G missense_variant False SOAT1@p.F486L 1 0.244897959 ENSG00000057252 chr1:179351324-179351324;C/G missense_variant False SNX9@p.A226P 1 0.111111111 ENSG00000130340 chr6:157906183-157906183;G/C missense_variant False SOCS6@p.S475F 1 0.272727273 ENSG00000170677 chr18:70326092-70326092;C/T missense_variant False SOCS6@p.S95F 1 0.14084507 ENSG00000170677 chr18:70324952-70324952;C/T missense_variant False SOCS6@p.V274G 1 0.533333333 ENSG00000170677 chr18:70325489-70325489;T/G missense_variant False SOCS7@p.G294E 1 0.625 ENSG00000274211 chr17:38352933-38352933;G/A missense_variant False SOCS7@p.R427Q 1 0.076923077 ENSG00000274211 chr17:38366314-38366314;G/A missense_variant False SOD1@p.H49D 1 0.207373272 ENSG00000142168 chr21:31663862-31663862;C/G missense_variant False SOD1@p.K4R 1 0.12 ENSG00000142168 chr21:31659780-31659780;A/G missense_variant False SOD1@p.R116L 1 0.229508197 ENSG00000142168 chr21:31667365-31667365;G/T missense_variant False SOD2@p.L84V 1 0.107692308 ENSG00000291237 chr6:159688219-159688219;G/C missense_variant False SOGA1@p.E393Q 1 0.145833333 ENSG00000149639 chr20:36816265-36816265;C/G missense_variant False SOGA1@p.R643L 1 0.357142857 ENSG00000149639 chr20:36815514-36815514;C/A missense_variant False SOGA1@p.S747L 1 0.255952381 ENSG00000149639 chr20:36815202-36815202;G/A missense_variant False SOGA3@p.D688N 1 0.35 ENSG00000214338 chr6:127475964-127475964;C/T missense_variant False SOGA3@p.D817N 1 0.25210084 ENSG00000214338 chr6:127475577-127475577;C/T missense_variant False SOGA3@p.D890N 1 0.166666667 ENSG00000214338 chr6:127475358-127475358;C/T missense_variant False SOGA3@p.E714K 1 0.177777778 ENSG00000214338 chr6:127475886-127475886;C/T missense_variant False SOGA3@p.E893Q 1 0.224137931 ENSG00000214338 chr6:127475349-127475349;C/G missense_variant False SNX19@p.G459E 1 0.313432836 ENSG00000120451 chr11:130914564-130914564;C/T missense_variant False SNX19@p.G222R 1 0.533333333 ENSG00000120451 chr11:130915276-130915276;C/T missense_variant False SNX19@p.E484K 1 0.210526316 ENSG00000120451 chr11:130914490-130914490;C/T missense_variant False SNRNP200@p.K255N 1 0.444444444 ENSG00000144028 chr2:96298932-96298932;C/A missense_variant False SNRNP48@p.E183K 1 0.108910891 ENSG00000168566 chr6:7601476-7601476;G/A missense_variant False SNRNP40@p.P159T 1 0.491712707 ENSG00000060688 chr1:31289310-31289310;G/T missense_variant False SNRNP40@p.I2V 1 0.453333333 ENSG00000060688 chr1:31296748-31296748;T/C missense_variant False SNRNP35@p.V116F 1 0.27607362 ENSG00000184209 chr12:123465886-123465886;G/T missense_variant False SNRNP35@p.L50F 1 0.162162162 ENSG00000184209 chr12:123465688-123465688;C/T missense_variant False SNRNP200@p.P669S 1 0.338028169 ENSG00000144028 chr2:96293347-96293347;G/A missense_variant False SNRNP200@p.G732R 1 0.191176471 ENSG00000144028 chr2:96291867-96291867;C/T missense_variant False SNIP1@p.S85L 1 0.330827068 ENSG00000163877 chr1:37552718-37552718;G/A missense_variant False SNRNP200@p.F1530L 1 0.163934426 ENSG00000144028 chr2:96283708-96283708;G/C missense_variant False SNRNP200@p.E1633Q 1 0.102272727 ENSG00000144028 chr2:96283219-96283219;C/G missense_variant False SNRNP200@p.E1279K 1 0.369230769 ENSG00000144028 chr2:96286479-96286479;C/T missense_variant False SNRNP200@p.A1094V 1 0.434210526 ENSG00000144028 chr2:96287947-96287947;G/A missense_variant False SNRK@p.I367T 1 0.77173913 ENSG00000163788 chr3:43347359-43347359;T/C missense_variant False SNRK@p.D414H 1 0.36 ENSG00000163788 chr3:43347499-43347499;G/C missense_variant False SNRNP48@p.K234E 1 0.106060606 ENSG00000168566 chr6:7602727-7602727;A/G missense_variant False SNRNP48@p.K234N 1 0.236842105 ENSG00000168566 chr6:7602729-7602729;G/C missense_variant False SNRNP70@p.R155P 1 0.152777778 ENSG00000104852 chr19:49101460-49101460;G/C missense_variant False SNRNP70@p.R200K 1 0.333333333 ENSG00000104852 chr19:49107646-49107646;G/A missense_variant False SNRPA1@p.L112F 1 0.180327869 ENSG00000131876 chr15:101287678-101287678;G/A missense_variant False SNRPA1@p.P198S 1 0.510638298 ENSG00000131876 chr15:101285749-101285749;G/A missense_variant False SNRPA1@p.R132K 1 0.127118644 ENSG00000131876 chr15:101286972-101286972;C/T missense_variant False SNRPA@p.A120T 1 0.074324324 ENSG00000077312 chr19:40759542-40759542;G/A missense_variant False SNRPA@p.D262N 1 0.15 ENSG00000077312 chr19:40765102-40765102;G/A missense_variant False SNRPA@p.H208D 1 0.459459459 ENSG00000077312 chr19:40763608-40763608;C/G missense_variant False SNRPA@p.K114N 1 0.29245283 ENSG00000077312 chr19:40759526-40759526;G/C missense_variant False SNRPA@p.P151L 1 0.147058824 ENSG00000077312 chr19:40762926-40762926;C/T missense_variant False SNRPA@p.P8L 1 0.192192192 ENSG00000077312 chr19:40751431-40751431;C/T missense_variant False SNRPB2@p.S88L 1 0.575757576 ENSG00000125870 chr20:16737286-16737286;C/T missense_variant False SNRPB@p.G107R 1 0.204301075 ENSG00000125835 chr20:2463848-2463848;C/G missense_variant False SNRPB@p.G163V 1 0.084337349 ENSG00000125835 chr20:2463160-2463160;C/A missense_variant False SNRPB@p.P207R 1 0.224299065 ENSG00000125835 chr20:2462701-2462701;G/C missense_variant False SNPH@p.D324H 1 0.0625 ENSG00000101298 chr20:1305539-1305539;G/C missense_variant False SNIP1@p.D356H 1 0.2 ENSG00000163877 chr1:37537873-37537873;C/G missense_variant False SNRPB@p.R221Q 1 0.2 ENSG00000125835 chr20:2462659-2462659;C/T missense_variant False SNAPC4@p.S135R 1 0.071428571 ENSG00000165684 chr9:136395364-136395364;G/C missense_variant False SNCAIP@p.H462Q 1 0.266666667 ENSG00000064692 chr5:122440718-122440718;C/A missense_variant False SNCAIP@p.E706D 1 0.133333333 ENSG00000064692 chr5:122450965-122450965;A/T missense_variant False SNCAIP@p.E498K 1 0.196078431 ENSG00000064692 chr5:122444632-122444632;G/A missense_variant False SNCAIP@p.E235K 1 0.352112676 ENSG00000064692 chr5:122423440-122423440;G/A missense_variant False SNCAIP@p.E198K 1 0.353535354 ENSG00000064692 chr5:122423329-122423329;G/A missense_variant False SNCA@p.E35K 1 0.315789474 ENSG00000145335 chr4:89835565-89835565;C/T missense_variant False SNAPC4@p.P991L 1 0.466666667 ENSG00000165684 chr9:136378855-136378855;G/A missense_variant False SNF8@p.T194A 1 0.528205128 ENSG00000159210 chr17:48931702-48931702;T/C missense_variant False SNAPC4@p.P1144L 1 0.322580645 ENSG00000165684 chr9:136378396-136378396;G/A missense_variant False SNAPC4@p.K856N 1 0.75 ENSG00000165684 chr9:136379259-136379259;C/G missense_variant False SNAPC3@p.E318G 1 0.128571429 ENSG00000164975 chr9:15453178-15453178;A/G missense_variant False SNAPC3@p.E158Q 1 0.152173913 ENSG00000164975 chr9:15433631-15433631;G/C missense_variant False SNAPC2@p.P168L 1 0.103448276 ENSG00000104976 chr19:7922165-7922165;C/T missense_variant False SNAPC1@p.L81V 1 0.185185185 ENSG00000023608 chr14:61766988-61766988;C/G missense_variant False SNCAIP@p.S629L 1 0.285714286 ENSG00000064692 chr5:122450733-122450733;C/T missense_variant False SNCAIP@p.T538M 1 0.276527331 ENSG00000064692 chr5:122449865-122449865;C/T missense_variant False SNCB@p.E46K 1 0.566037736 ENSG00000074317 chr5:176626747-176626747;C/T missense_variant False SNCB@p.G67E 1 0.105263158 ENSG00000074317 chr5:176626480-176626480;C/T missense_variant False SNCB@p.R45Q 1 0.566037736 ENSG00000074317 chr5:176626749-176626749;C/T missense_variant False SND1@p.E315Q 1 0.095238095 ENSG00000197157 chr7:127704941-127704941;G/C missense_variant False SND1@p.G275Vfs*61 1 0.258064516 ENSG00000197157 chr7:127703306-127703307;-/T frameshift_variant False SND1@p.G852W 1 0.065217391 ENSG00000197157 chr7:128089624-128089624;G/T missense_variant False SND1@p.R562K 1 0.263157895 ENSG00000197157 chr7:127990962-127990962;G/A missense_variant False SND1@p.W658R 1 0.416666667 ENSG00000197157 chr7:128081363-128081363;T/C missense_variant False SNED1@p.A205V 1 0.583333333 ENSG00000162804 chr2:241033847-241033847;C/T missense_variant False SNED1@p.A707D 1 0.291666667 ENSG00000162804 chr2:241053189-241053189;C/A missense_variant False SNED1@p.D107H 1 0.523809524 ENSG00000162804 chr2:241030389-241030389;G/C missense_variant False SNED1@p.D949N 1 0.342857143 ENSG00000162804 chr2:241065430-241065430;G/A missense_variant False SNED1@p.G669R 1 0.218181818 ENSG00000162804 chr2:241052390-241052390;G/A missense_variant False SNED1@p.S301W 1 0.333333333 ENSG00000162804 chr2:241036886-241036886;C/G missense_variant False SNF8@p.E251Q 1 0.153846154 ENSG00000159210 chr17:48930501-48930501;C/G missense_variant False SNRPB@p.P232L 1 0.366666667 ENSG00000125835 chr20:2461784-2461784;G/A missense_variant False SNRPB@p.V66G 1 0.247524752 ENSG00000125835 chr20:2465778-2465778;A/C missense_variant False SNX19@p.E298Q 1 0.260869565 ENSG00000120451 chr11:130915048-130915048;C/G missense_variant False SNX13@p.E917K 1 0.5 ENSG00000071189 chr7:17794170-17794170;C/T missense_variant False SNX14@p.M714I 1 0.188034188 ENSG00000135317 chr6:85518014-85518014;C/G missense_variant False SNX14@p.F440S 1 0.151898734 ENSG00000135317 chr6:85543252-85543252;A/G missense_variant False SNX14@p.E931K 1 0.152542373 ENSG00000135317 chr6:85507244-85507244;C/T missense_variant False SNX14@p.D412H 1 0.357142857 ENSG00000135317 chr6:85543635-85543635;C/G missense_variant False SNX13@p.R425K 1 0.139534884 ENSG00000071189 chr7:17839892-17839892;C/T missense_variant False SNX13@p.M725T 1 0.46875 ENSG00000071189 chr7:17803471-17803471;A/G missense_variant False SNX13@p.E80K 1 0.222222222 ENSG00000071189 chr7:17891626-17891626;C/T missense_variant False SNW1@p.G272V 1 0.2 ENSG00000100603 chr14:77732561-77732561;C/A missense_variant False SNX13@p.E313del 1 0.1 ENSG00000071189 chr7:17850863-17850865;TTC/- inframe_deletion False SNX12@p.I60M 1 0.411764706 ENSG00000147164 chrX:71062935-71062935;G/C missense_variant False SNX11@p.M7I 1 0.188405797 ENSG00000002919 chr17:48112064-48112064;G/A missense_variant False SNX10@p.S127L 1 0.14213198 ENSG00000086300 chr7:26371889-26371889;C/T missense_variant False SNX10@p.G191R 1 0.128078818 ENSG00000086300 chr7:26372537-26372537;G/A missense_variant False SNW1@p.P248S 1 0.170886076 ENSG00000100603 chr14:77734979-77734979;G/A missense_variant False SNX14@p.Q10H 1 0.342857143 ENSG00000135317 chr6:85593689-85593689;C/A missense_variant False SNX14@p.R615K 1 0.27027027 ENSG00000135317 chr6:85530242-85530242;C/T missense_variant False SNX14@p.S846L 1 0.306930693 ENSG00000135317 chr6:85514090-85514090;G/A missense_variant False SNX15@p.D8N 1 0.12012012 ENSG00000110025 chr11:65027559-65027559;G/A missense_variant False SNX15@p.F122L 1 0.489361702 ENSG00000110025 chr11:65034956-65034956;C/A missense_variant False SNX16@p.E252G 1 0.214285714 ENSG00000104497 chr8:81803155-81803155;T/C missense_variant False SNX16@p.E85K 1 0.649006623 ENSG00000104497 chr8:81839734-81839734;C/T missense_variant False SNX16@p.S28Y 1 0.412844037 ENSG00000104497 chr8:81839904-81839904;G/T missense_variant False SNX17@p.D170Y 1 0.314606742 ENSG00000115234 chr2:27374160-27374160;G/T missense_variant False SNX17@p.D231H 1 0.3 ENSG00000115234 chr2:27375070-27375070;G/C missense_variant False SNX17@p.E468K 1 0.628571429 ENSG00000115234 chr2:27376708-27376708;G/A missense_variant False SNX17@p.G466E 1 0.296296296 ENSG00000115234 chr2:27376703-27376703;G/A missense_variant False SNX17@p.M371I 1 0.228187919 ENSG00000115234 chr2:27376114-27376114;G/A missense_variant False SNX17@p.R202S 1 0.283018868 ENSG00000115234 chr2:27374428-27374428;G/T missense_variant False SNX17@p.S208C 1 0.144827586 ENSG00000115234 chr2:27374700-27374700;C/G missense_variant False SNX18@p.E25K 1 0.115384615 ENSG00000178996 chr5:54518025-54518025;G/A missense_variant False SNX18@p.V260L 1 0.22972973 ENSG00000178996 chr5:54518730-54518730;G/C missense_variant False SNW1@p.G337R 1 0.268817204 ENSG00000100603 chr14:77731012-77731012;C/T missense_variant False SNW1@p.E428K 1 0.105263158 ENSG00000100603 chr14:77718497-77718497;C/T missense_variant False SNRPC@p.R156Q 1 0.071428571 ENSG00000124562 chr6:34773557-34773557;G/A missense_variant False SNRPN@p.P169L 1 0.423076923 ENSG00000128739 chr15:24977863-24977863;C/T missense_variant False SNTB1@p.D299Y 1 0.264705882 ENSG00000172164 chr8:120632545-120632545;C/A missense_variant False SNTA1@p.L327V 1 0.301886792 ENSG00000101400 chr20:33412357-33412357;G/C missense_variant False SNTA1@p.E332K 1 0.578947368 ENSG00000101400 chr20:33412342-33412342;C/T missense_variant False SNTA1@p.E211K 1 0.108108108 ENSG00000101400 chr20:33417789-33417789;C/T missense_variant False SNRPN@p.R172W 1 0.166666667 ENSG00000128739 chr15:24977871-24977871;C/T missense_variant False SNRPN@p.P175A 1 0.454545455 ENSG00000128739 chr15:24977880-24977880;C/G missense_variant False SNRPN@p.I213T 1 0.361702128 ENSG00000128739 chr15:24978271-24978271;T/C missense_variant False SNW1@p.D118N 1 0.139751553 ENSG00000100603 chr14:77739040-77739040;C/T missense_variant False SNRPN@p.A208S 1 0.517241379 ENSG00000128739 chr15:24978255-24978255;G/T missense_variant False SNRPE@p.M54I 1 0.496183206 ENSG00000182004 chr1:203865058-203865058;G/A missense_variant False SNRPE@p.E37K 1 0.301886792 ENSG00000182004 chr1:203863690-203863690;G/A missense_variant False SNRPD3@p.D52N 1 0.220588235 ENSG00000286070 chr22:24568011-24568011;G/A missense_variant False SNRPD2@p.R19Q 1 0.170940171 ENSG00000125743 chr19:45688513-45688513;C/T missense_variant False SNRPD1@p.R61P 1 0.303370787 ENSG00000167088 chr18:21623838-21623838;G/C missense_variant False SNTB1@p.E307Q 1 0.552631579 ENSG00000172164 chr8:120632521-120632521;C/G missense_variant False SNTB1@p.S389L 1 0.148648649 ENSG00000172164 chr8:120548929-120548929;G/A missense_variant False SNTB2@p.E229K 1 0.443037975 ENSG00000168807 chr16:69245706-69245706;G/A missense_variant False SNTG1@p.G312S 1 0.166666667 ENSG00000147481 chr8:50656993-50656993;G/A missense_variant False SNTG1@p.G441S 1 0.352272727 ENSG00000147481 chr8:50752037-50752037;G/A missense_variant False SNTG1@p.L472I 1 0.059701493 ENSG00000147481 chr8:50792689-50792689;T/A missense_variant False SNTG1@p.Q461H 1 0.176470588 ENSG00000147481 chr8:50752099-50752099;G/T missense_variant False SNTG1@p.V136L 1 0.217391304 ENSG00000147481 chr8:50502820-50502820;G/T missense_variant False SNTG2@p.H349D 1 0.311926606 ENSG00000172554 chr2:1259409-1259409;C/G missense_variant False SNTG2@p.I127T 1 0.34939759 ENSG00000172554 chr2:1137778-1137778;T/C missense_variant False SNTG2@p.I29V 1 0.105263158 ENSG00000172554 chr2:1083530-1083530;A/G missense_variant False SNTG2@p.I43M 1 0.169354839 ENSG00000172554 chr2:1083574-1083574;C/G missense_variant False SNTG2@p.K397N 1 0.184210526 ENSG00000172554 chr2:1267478-1267478;G/C missense_variant False SNTG2@p.M300I 1 0.209302326 ENSG00000172554 chr2:1247338-1247338;G/A missense_variant False SNTN@p.P19L 1 0.538461538 ENSG00000188817 chr3:63652743-63652743;C/T missense_variant False SNTN@p.T26A 1 0.462686567 ENSG00000188817 chr3:63652763-63652763;A/G missense_variant False SNW1@p.A85V 1 0.359375 ENSG00000100603 chr14:77751395-77751395;G/A missense_variant False SORCS1@p.H894R 1 0.354166667 ENSG00000108018 chr10:106620543-106620543;T/C missense_variant False SORCS1@p.Q351H 1 0.245614035 ENSG00000108018 chr10:106709313-106709313;C/G missense_variant False SPARCL1@p.Q375E 1 0.081967213 ENSG00000152583 chr4:87493677-87493677;G/C missense_variant False SP5@p.D53N 1 0.233333333 ENSG00000204335 chr2:170716364-170716364;G/A missense_variant False SP8@p.S192L 1 0.444444444 ENSG00000164651 chr7:20785188-20785188;G/A missense_variant False SP8@p.C363Y 1 0.166666667 ENSG00000164651 chr7:20784675-20784675;C/T missense_variant False SP7@p.L39V 1 0.591836735 ENSG00000170374 chr12:53329327-53329327;G/C missense_variant False SP7@p.H222Y 1 0.472972973 ENSG00000170374 chr12:53328778-53328778;G/A missense_variant False SP7@p.F68L 1 0.174863388 ENSG00000170374 chr12:53329238-53329238;A/T missense_variant False SP6@p.D246N 1 0.277777778 ENSG00000189120 chr17:47847694-47847694;C/T missense_variant False SP4@p.S310F 1 0.387387387 ENSG00000105866 chr7:21430094-21430094;C/T missense_variant False SPA17@p.P80H 1 0.602272727 ENSG00000064199 chr11:124691709-124691709;C/A missense_variant False SP4@p.S187L 1 0.31884058 ENSG00000105866 chr7:21429725-21429725;C/T missense_variant False SP4@p.S122C 1 0.224137931 ENSG00000105866 chr7:21429530-21429530;C/G missense_variant False SP4@p.R621Q 1 0.489361702 ENSG00000105866 chr7:21477262-21477262;G/A missense_variant False SP4@p.R234T 1 0.107913669 ENSG00000105866 chr7:21429866-21429866;G/C missense_variant False SP4@p.Q250E 1 0.260869565 ENSG00000105866 chr7:21429913-21429913;C/G missense_variant False SP4@p.K705N 1 0.310810811 ENSG00000105866 chr7:21511029-21511029;G/C missense_variant False SPA17@p.E97K 1 0.165413534 ENSG00000064199 chr11:124691759-124691759;G/A missense_variant False SPACA1@p.C121Y 1 0.1 ENSG00000118434 chr6:88057708-88057708;G/A missense_variant False SORCS1@p.Q965K 1 0.61038961 ENSG00000108018 chr10:106618176-106618176;G/T missense_variant False SPAG16@p.E485Q 1 0.148148148 ENSG00000144451 chr2:214014003-214014003;G/C missense_variant False SPAG17@p.D808N 1 0.25 ENSG00000155761 chr1:118066863-118066863;C/T missense_variant False SPAG17@p.D613N 1 0.088235294 ENSG00000155761 chr1:118081568-118081568;C/T missense_variant False SPAG17@p.A238T 1 0.217105263 ENSG00000155761 chr1:118099723-118099723;C/T missense_variant False SPAG16@p.R437C 1 0.223880597 ENSG00000144451 chr2:213930054-213930054;C/T missense_variant False SPAG16@p.R282C 1 0.913043478 ENSG00000144451 chr2:213375021-213375021;C/T missense_variant False SPAG16@p.R201Q 1 0.909090909 ENSG00000144451 chr2:213340228-213340228;G/A missense_variant False SPAG16@p.A606P 1 0.102564103 ENSG00000144451 chr2:214410235-214410235;G/C missense_variant False SPACA1@p.H140D 1 0.194444444 ENSG00000118434 chr6:88058766-88058766;C/G missense_variant False SPAG11B@p.R80Q 1 0.37254902 ENSG00000178287 chr8:7451175-7451175;C/T missense_variant False SPACA9@p.E6Q 1 0.098591549 ENSG00000165698 chr9:132883963-132883963;G/C missense_variant False SPACA7@p.L54M 1 0.28125 ENSG00000153498 chr13:112398057-112398057;C/A missense_variant False SPACA7@p.H97N 1 0.326923077 ENSG00000153498 chr13:112399113-112399113;C/A missense_variant False SPACA7@p.E57Q 1 0.05 ENSG00000153498 chr13:112398066-112398066;G/C missense_variant False SPACA3@p.R27Q 1 0.185430464 ENSG00000141316 chr17:32995454-32995454;G/A missense_variant False SP4@p.E782K 1 0.435294118 ENSG00000105866 chr7:21511258-21511258;G/A missense_variant False SP3@p.F681C 1 0.545454545 ENSG00000172845 chr2:173910245-173910245;A/C missense_variant False SP3@p.D556N 1 0.310344828 ENSG00000172845 chr2:173918759-173918759;C/T missense_variant False SP140@p.D390H 1 0.305555556 ENSG00000079263 chr2:230255460-230255460;G/C missense_variant False SP140@p.K603N 1 0.236363636 ENSG00000079263 chr2:230290548-230290548;G/C missense_variant False SP140@p.K496N 1 0.269230769 ENSG00000079263 chr2:230270629-230270629;G/C missense_variant False SP140@p.I804M 1 0.857142857 ENSG00000079263 chr2:230311502-230311502;C/G missense_variant False SP140@p.E35Q 1 0.255319149 ENSG00000079263 chr2:230237126-230237126;G/C missense_variant False SP140@p.E310K 1 0.293577982 ENSG00000079263 chr2:230248920-230248920;G/A missense_variant False SP140@p.E293Q 1 0.210526316 ENSG00000079263 chr2:230248050-230248050;G/C missense_variant False SP110@p.S356L 1 0.188118812 ENSG00000135899 chr2:230200947-230200947;G/A missense_variant False SP2@p.T379I 1 0.157303371 ENSG00000167182 chr17:47923038-47923038;C/T missense_variant False SP110@p.E35K 1 0.458333333 ENSG00000135899 chr2:230216825-230216825;C/T missense_variant False SP100@p.T877R 1 0.052631579 ENSG00000067066 chr2:230542918-230542918;C/G missense_variant False SP100@p.S92F 1 0.391304348 ENSG00000067066 chr2:230444182-230444182;C/T missense_variant False SP100@p.S723C 1 0.172413793 ENSG00000067066 chr2:230539340-230539340;C/G missense_variant False SP100@p.S331C 1 0.5 ENSG00000067066 chr2:230462453-230462453;C/G missense_variant False SP100@p.Q875E 1 0.105263158 ENSG00000067066 chr2:230542911-230542911;C/G missense_variant False SP140@p.M10I 1 0.285714286 ENSG00000079263 chr2:230225874-230225874;G/A missense_variant False SP140@p.Q519L 1 0.25 ENSG00000079263 chr2:230284403-230284403;A/T missense_variant False SP140@p.R401C 1 0.774193548 ENSG00000079263 chr2:230255493-230255493;C/T missense_variant False SP140@p.R86T 1 0.416666667 ENSG00000079263 chr2:230238232-230238232;G/C missense_variant False SP140L@p.E46K 1 0.128630705 ENSG00000185404 chr2:230357833-230357833;G/A missense_variant False SP140L@p.H139Y 1 0.240875912 ENSG00000185404 chr2:230359108-230359108;C/T missense_variant False SP1@p.E757Q 1 0.214285714 ENSG00000185591 chr12:53411151-53411151;G/C missense_variant False SP1@p.F179L 1 0.314285714 ENSG00000185591 chr12:53382484-53382484;C/A missense_variant False SP1@p.L241_G248del 1 0.086956522 ENSG00000185591 chr12:53382664-53382687;AGGCCTGGCTAATAATGTACTCTC/- inframe_deletion False SP1@p.L61V 1 0.179245283 ENSG00000185591 chr12:53382128-53382128;T/G missense_variant False SP1@p.N255D 1 0.42408377 ENSG00000185591 chr12:53382710-53382710;A/G missense_variant False SP1@p.S446C 1 0.18018018 ENSG00000185591 chr12:53383284-53383284;C/G missense_variant False SP1@p.S525C 1 0.154929577 ENSG00000185591 chr12:53383521-53383521;C/G missense_variant False SP1@p.S59F 1 0.191489362 ENSG00000185591 chr12:53382123-53382123;C/T missense_variant False SP1@p.S69N 1 0.34375 ENSG00000185591 chr12:53382153-53382153;G/A missense_variant False SP2@p.I70M 1 0.256578947 ENSG00000167182 chr17:47916281-47916281;C/G missense_variant False SP2@p.S141R 1 0.389830508 ENSG00000167182 chr17:47916494-47916494;C/A missense_variant False SPAG17@p.E1093Q 1 0.431818182 ENSG00000155761 chr1:118039334-118039334;C/G missense_variant False SPAG17@p.E1250K 1 0.215053763 ENSG00000155761 chr1:118025399-118025399;C/T missense_variant False SPAG17@p.E1345K 1 0.29787234 ENSG00000155761 chr1:118023340-118023340;C/T missense_variant False SPAG9@p.D882N 1 0.22 ENSG00000008294 chr17:50989846-50989846;C/T missense_variant False SPAM1@p.Y397C 1 0.333333333 ENSG00000106304 chr7:123959629-123959629;A/G missense_variant False SPAG9@p.S1290L 1 0.081632653 ENSG00000008294 chr17:50966369-50966369;G/A missense_variant False SPAG9@p.L427F 1 0.13 ENSG00000008294 chr17:51006228-51006228;C/G missense_variant False SPAG9@p.I1207T 1 0.205128205 ENSG00000008294 chr17:50974851-50974851;A/G missense_variant False SPAG9@p.E880K 1 0.204301075 ENSG00000008294 chr17:50989852-50989852;C/T missense_variant False SPAG9@p.E2Q 1 0.375 ENSG00000008294 chr17:51120653-51120653;C/G missense_variant False SPAG9@p.D602Y 1 0.191666667 ENSG00000008294 chr17:50998478-50998478;C/A missense_variant False SPAG5@p.M280I 1 0.271604938 ENSG00000076382 chr17:28592404-28592404;C/G missense_variant False SPAG6@p.S192R 1 0.309734513 ENSG00000077327 chr10:22386857-22386857;T/A missense_variant False SPAG6@p.Q216H 1 0.126984127 ENSG00000077327 chr10:22386929-22386929;G/C missense_variant False SPAG6@p.E200K 1 0.352941176 ENSG00000077327 chr10:22386879-22386879;G/A missense_variant False SPAG6@p.A403Sfs*16 1 0.225806452 ENSG00000077327 chr10:22401163-22401164;-/A frameshift_variant False SPAG5@p.S48L 1 0.08974359 ENSG00000076382 chr17:28598544-28598544;G/A missense_variant False SPAG5@p.S411T 1 0.125 ENSG00000076382 chr17:28592012-28592012;C/G missense_variant False SPANXB1@p.A78T 1 0.112107623 ENSG00000227234 chrX:141003572-141003572;G/A missense_variant False SPANXC@p.N19K 1 0.209821429 ENSG00000198573 chrX:141242401-141242401;G/T missense_variant False SPANXD@p.E46G 1 0.063157895 ENSG00000196406 chrX:141697622-141697622;T/C missense_variant False SPANXD@p.S48L 1 0.340163934 ENSG00000196406 chrX:141697616-141697616;G/A missense_variant False SPANXN2@p.E2Q 1 0.259541985 ENSG00000268988 chrX:143720665-143720665;C/G missense_variant False SPANXN2@p.K12N 1 0.225589226 ENSG00000268988 chrX:143720633-143720633;C/A missense_variant False SPANXN3@p.E75D 1 0.864864865 ENSG00000189252 chrX:143509016-143509016;C/A missense_variant False SPANXN3@p.I81T 1 0.358108108 ENSG00000189252 chrX:143508999-143508999;A/G missense_variant False SPANXN3@p.S77F 1 0.459259259 ENSG00000189252 chrX:143509011-143509011;G/A missense_variant False SPANXN4@p.E10D 1 0.923076923 ENSG00000189326 chrX:143026044-143026044;G/T missense_variant False SPARC@p.E159K 1 0.458333333 ENSG00000113140 chr5:151667577-151667577;C/T missense_variant False SPARC@p.R218W 1 0.244444444 ENSG00000113140 chr5:151666443-151666443;G/A missense_variant False SPARCL1@p.D242H 1 0.614814815 ENSG00000152583 chr4:87494076-87494076;C/G missense_variant False SPARCL1@p.D326N 1 0.147321429 ENSG00000152583 chr4:87493824-87493824;C/T missense_variant False SPARCL1@p.K221N 1 0.167553191 ENSG00000152583 chr4:87494137-87494137;C/G missense_variant False SPARCL1@p.K582N 1 0.262711864 ENSG00000152583 chr4:87480443-87480443;C/G missense_variant False SPARCL1@p.M434I 1 0.233333333 ENSG00000152583 chr4:87490868-87490868;C/G missense_variant False SPAG5@p.S367L 1 0.235955056 ENSG00000076382 chr17:28592144-28592144;G/A missense_variant False SPAG5@p.L36F 1 0.260869565 ENSG00000076382 chr17:28598581-28598581;G/A missense_variant False SPAG17@p.E309K 1 0.285714286 ENSG00000155761 chr1:118097756-118097756;C/T missense_variant False SPAG17@p.K957N 1 0.464788732 ENSG00000155761 chr1:118041986-118041986;C/A missense_variant False SPAG17@p.S591Pfs*10 1 0.27027027 ENSG00000155761 chr1:118081613-118081634;CTCGTTCTACTTCATTCCAGCT/- frameshift_variant False SPAG17@p.S275L 1 0.628019324 ENSG00000155761 chr1:118099611-118099611;G/A missense_variant False SPAG17@p.R670K 1 0.306666667 ENSG00000155761 chr1:118081301-118081301;C/T missense_variant False SPAG17@p.R472K 1 0.135802469 ENSG00000155761 chr1:118086953-118086953;C/T missense_variant False SPAG17@p.N2184S 1 0.25748503 ENSG00000155761 chr1:117963920-117963920;T/C missense_variant False SPAG17@p.M1573I 1 0.178082192 ENSG00000155761 chr1:118005471-118005471;C/T missense_variant False SPAG17@p.K2122E 1 0.048780488 ENSG00000155761 chr1:117970079-117970079;T/C missense_variant False SPAG5@p.E801D 1 0.242857143 ENSG00000076382 chr17:28584159-28584159;C/G missense_variant False SPAG17@p.K148N 1 0.427083333 ENSG00000155761 chr1:118115313-118115313;C/G missense_variant False SPAG17@p.F584C 1 0.42 ENSG00000155761 chr1:118085933-118085933;A/C missense_variant False SPAG17@p.E995Q 1 0.201086957 ENSG00000155761 chr1:118041874-118041874;C/G missense_variant False SPAG17@p.E765Q 1 0.15 ENSG00000155761 chr1:118073946-118073946;C/G missense_variant False SPAG17@p.E580K 1 0.582278481 ENSG00000155761 chr1:118085946-118085946;C/T missense_variant False SPAG17@p.E309Lfs*2 1 0.294117647 ENSG00000155761 chr1:118097746-118097756;AGATTTGTTTC/- frameshift_variant False SPAG17@p.S809C 1 0.107692308 ENSG00000155761 chr1:118066859-118066859;G/C missense_variant False SPAG17@p.S987L 1 0.236311239 ENSG00000155761 chr1:118041897-118041897;G/A missense_variant False SPAG17@p.V1172L 1 0.093023256 ENSG00000155761 chr1:118031787-118031787;C/G missense_variant False SPAG1@p.D721G 1 0.194690265 ENSG00000104450 chr8:100239286-100239286;A/G missense_variant False SPAG1@p.E902Q 1 0.073529412 ENSG00000104450 chr8:100240945-100240945;G/C missense_variant False SPAG1@p.F220L 1 0.135135135 ENSG00000104450 chr8:100184692-100184692;C/G missense_variant False SPAG1@p.L704Tfs*10 1 0.454545455 ENSG00000104450 chr8:100233530-100233531;-/A frameshift_variant False SPAG1@p.R566T 1 0.15 ENSG00000104450 chr8:100225181-100225181;G/C missense_variant False SPAG1@p.S491L 1 0.193877551 ENSG00000104450 chr8:100213855-100213855;C/T missense_variant False SPAG1@p.V45M 1 0.408450704 ENSG00000104450 chr8:100162413-100162413;G/A missense_variant False SPAG4@p.F181L 1 0.191489362 ENSG00000061656 chr20:35618091-35618091;C/G missense_variant False SPAG4@p.P7Q 1 0.173913043 ENSG00000061656 chr20:35616023-35616023;C/A missense_variant False SPAG4@p.S13W 1 0.082191781 ENSG00000061656 chr20:35616041-35616041;C/G missense_variant False SPAG4@p.S76Y 1 0.461538462 ENSG00000061656 chr20:35616230-35616230;C/A missense_variant False SPAG4@p.T71I 1 0.411764706 ENSG00000061656 chr20:35616215-35616215;C/T missense_variant False SPAG5@p.D168N 1 0.225 ENSG00000076382 chr17:28592742-28592742;C/T missense_variant False SPAG5@p.E230Q 1 0.252252252 ENSG00000076382 chr17:28592556-28592556;C/G missense_variant False SP100@p.L822F 1 0.115942029 ENSG00000067066 chr2:230541954-230541954;G/C missense_variant False SP100@p.L784F 1 0.163934426 ENSG00000067066 chr2:230541321-230541321;G/C missense_variant False SP100@p.H761N 1 0.384615385 ENSG00000067066 chr2:230540946-230540946;C/A missense_variant False SOS1@p.D555H 1 0.317757009 ENSG00000115904 chr2:39022765-39022765;C/G missense_variant False SOS1@p.E698K 1 0.181102362 ENSG00000115904 chr2:39013535-39013535;C/T missense_variant False SOS1@p.E551K 1 0.428571429 ENSG00000115904 chr2:39022777-39022777;C/T missense_variant False SOS1@p.E492Q 1 0.490566038 ENSG00000115904 chr2:39022954-39022954;C/G missense_variant False SOS1@p.E458K 1 0.325 ENSG00000115904 chr2:39023056-39023056;C/T missense_variant False SOS1@p.E156Q 1 0.243362832 ENSG00000115904 chr2:39056746-39056746;C/G missense_variant False SOS1@p.D581N 1 0.096491228 ENSG00000115904 chr2:39022687-39022687;C/T missense_variant False SOS1@p.D465H 1 0.333333333 ENSG00000115904 chr2:39023035-39023035;C/G missense_variant False SORL1@p.V1807Sfs*11 1 0.291666667 ENSG00000137642 chr11:121612828-121612829;-/A frameshift_variant False SORT1@p.M221L 1 0.294117647 ENSG00000134243 chr1:109354414-109354414;T/G missense_variant False SORT1@p.L766F 1 0.108695652 ENSG00000134243 chr1:109314731-109314731;C/G missense_variant False SORT1@p.G495R 1 0.416666667 ENSG00000134243 chr1:109327152-109327152;C/T missense_variant False SORT1@p.G346A 1 0.574257426 ENSG00000134243 chr1:109342085-109342085;C/G missense_variant False SORT1@p.E187Q 1 0.263736264 ENSG00000134243 chr1:109354516-109354516;C/G missense_variant False SORT1@p.D698Y 1 0.184210526 ENSG00000134243 chr1:109317902-109317902;C/A missense_variant False SOS1@p.E698Q 1 0.046357616 ENSG00000115904 chr2:39013535-39013535;C/G missense_variant False SOS1@p.E846K 1 0.290598291 ENSG00000115904 chr2:39007168-39007168;C/T missense_variant False SOS1@p.E864K 1 0.552447552 ENSG00000115904 chr2:39007114-39007114;C/T missense_variant False SOS1@p.H1285Q 1 0.409090909 ENSG00000115904 chr2:38985971-38985971;A/C missense_variant False SOS1@p.H349R 1 0.444444444 ENSG00000115904 chr2:39035240-39035240;T/C missense_variant False SOS1@p.I598V 1 0.265060241 ENSG00000115904 chr2:39022636-39022636;T/C missense_variant False SOS1@p.I661V 1 0.217391304 ENSG00000115904 chr2:39013949-39013949;T/C missense_variant False SOS1@p.M269I 1 0.320610687 ENSG00000115904 chr2:39051201-39051201;C/T missense_variant False SOS1@p.M412I 1 0.385542169 ENSG00000115904 chr2:39023192-39023192;C/T missense_variant False SOS1@p.P1294A 1 0.313846154 ENSG00000115904 chr2:38985946-38985946;G/C missense_variant False SOS1@p.R552S 1 0.260869565 ENSG00000115904 chr2:39022772-39022772;C/G missense_variant False SOS1@p.R896L 1 0.081395349 ENSG00000115904 chr2:39006516-39006516;C/A missense_variant False SOS1@p.S1071Vfs*17 1 0.169354839 ENSG00000115904 chr2:38995258-38995258;T/- frameshift_variant False SOS1@p.V852L 1 0.046242775 ENSG00000115904 chr2:39007150-39007150;C/A missense_variant False SOS2@p.D263N 1 0.361111111 ENSG00000100485 chr14:50182534-50182534;C/T missense_variant False SOS2@p.E587Q 1 0.345864662 ENSG00000100485 chr14:50159524-50159524;C/G missense_variant False SOS2@p.H1301P 1 0.462686567 ENSG00000100485 chr14:50118441-50118441;T/G missense_variant False SORL1@p.W1096C 1 0.237804878 ENSG00000137642 chr11:121570221-121570221;G/C missense_variant False SORL1@p.S776L 1 0.269035533 ENSG00000137642 chr11:121553997-121553997;C/T missense_variant False SOS2@p.L1076Qfs*25 1 0.3 ENSG00000100485 chr14:50130597-50130611;ACACTGTTGATTCCA/TT frameshift_variant False SORCS2@p.R372Q 1 0.395833333 ENSG00000184985 chr4:7667167-7667167;G/A missense_variant False SORCS3@p.L824P 1 0.066666667 ENSG00000156395 chr10:105214537-105214537;T/C missense_variant False SORCS3@p.E930K 1 0.478021978 ENSG00000156395 chr10:105223169-105223169;G/A missense_variant False SORCS3@p.E1164V 1 0.12244898 ENSG00000156395 chr10:105262378-105262378;A/T missense_variant False SORCS3@p.D442V 1 0.177419355 ENSG00000156395 chr10:105147639-105147639;A/T missense_variant False SORCS3@p.D1076Y 1 0.306451613 ENSG00000156395 chr10:105252895-105252895;G/T missense_variant False SORCS3@p.D1024H 1 0.341176471 ENSG00000156395 chr10:105247296-105247296;G/C missense_variant False SORCS2@p.D930E 1 0.170542636 ENSG00000184985 chr4:7726824-7726824;C/A missense_variant False SORL1@p.S2206L 1 0.117647059 ENSG00000137642 chr11:121629535-121629535;C/T missense_variant False SORCS1@p.V893M 1 0.365384615 ENSG00000108018 chr10:106620547-106620547;C/T missense_variant False SORCS1@p.V781I 1 0.263513514 ENSG00000108018 chr10:106652516-106652516;C/T missense_variant False SORCS1@p.S942Y 1 0.338028169 ENSG00000108018 chr10:106618244-106618244;G/T missense_variant False SORCS1@p.S549G 1 0.5 ENSG00000108018 chr10:106679650-106679650;T/C missense_variant False SORCS1@p.S1141L 1 0.142857143 ENSG00000108018 chr10:106577505-106577505;G/A missense_variant False SORCS1@p.R305S 1 0.205882353 ENSG00000108018 chr10:106761632-106761632;T/A missense_variant False SORCS3@p.M715T 1 0.111111111 ENSG00000156395 chr10:105201136-105201136;T/C missense_variant False SORCS3@p.N519I 1 0.519230769 ENSG00000156395 chr10:105157211-105157211;A/T missense_variant False SORCS3@p.P571T 1 0.121212121 ENSG00000156395 chr10:105158973-105158973;C/A missense_variant False SORCS3@p.P913H 1 0.095238095 ENSG00000156395 chr10:105223119-105223119;C/A missense_variant False SORCS3@p.Q553E 1 0.568627451 ENSG00000156395 chr10:105158919-105158919;C/G missense_variant False SORCS3@p.Q702H 1 0.421052632 ENSG00000156395 chr10:105200095-105200095;G/T missense_variant False SORCS3@p.S737A 1 0.27184466 ENSG00000156395 chr10:105201201-105201201;T/G missense_variant False SORCS3@p.S764I 1 0.388888889 ENSG00000156395 chr10:105211166-105211166;G/T missense_variant False SORCS3@p.V630F 1 0.45 ENSG00000156395 chr10:105167336-105167336;G/T missense_variant False SORCS3@p.W938S 1 0.845454545 ENSG00000156395 chr10:105223194-105223194;G/C missense_variant False SORD@p.E336Q 1 0.198412698 ENSG00000140263 chr15:45073462-45073462;G/C missense_variant False SORD@p.N24Y 1 0.25 ENSG00000140263 chr15:45040411-45040411;A/T missense_variant False SORL1@p.G2152E 1 0.070175439 ENSG00000137642 chr11:121627645-121627645;G/A missense_variant False SORL1@p.L1831V 1 0.071428571 ENSG00000137642 chr11:121614942-121614942;C/G missense_variant False SORL1@p.P1751L 1 0.35106383 ENSG00000137642 chr11:121611088-121611088;C/T missense_variant False SORL1@p.Q1916* 1 0.177083333 ENSG00000137642 chr11:121619774-121619807;CAGGGGCCATCCTCTGACTACGTTGTAGTGAAGA/- frameshift_variant False SORL1@p.Q781Rfs*33 1 0.154506438 ENSG00000137642 chr11:121554011-121554026;CAGTTGCCTCTCACCG/AGA frameshift_variant False SOS2@p.K143T 1 0.067073171 ENSG00000100485 chr14:50199773-50199773;T/G missense_variant False SOS2@p.Y1310C 1 0.482352941 ENSG00000100485 chr14:50118414-50118414;T/C missense_variant False SP100@p.E871K 1 0.235294118 ENSG00000067066 chr2:230515611-230515611;G/A missense_variant False SOX5@p.R250T 1 0.259259259 ENSG00000134532 chr12:23734745-23734745;C/G missense_variant False SOX6@p.Q35H 1 0.096153846 ENSG00000110693 chr11:16341144-16341144;T/G missense_variant False SOX6@p.G473E 1 0.074074074 ENSG00000110693 chr11:16049772-16049772;C/T missense_variant False SOX5@p.Y625F 1 0.121212121 ENSG00000134532 chr12:23536567-23536567;T/A missense_variant False SOX5@p.V351I 1 0.317460317 ENSG00000134532 chr12:23604500-23604500;C/T missense_variant False SOX5@p.T108S 1 0.288888889 ENSG00000134532 chr12:23846142-23846142;T/A missense_variant False SOX5@p.S701R 1 0.117647059 ENSG00000134532 chr12:23534410-23534410;T/G missense_variant False SOX5@p.Q237K 1 0.102941176 ENSG00000134532 chr12:23740899-23740899;G/T missense_variant False SOX5@p.E158Q 1 0.310344828 ENSG00000134532 chr12:23845992-23845992;C/G missense_variant False SOX5@p.P331S 1 0.135338346 ENSG00000134532 chr12:23640838-23640838;G/A missense_variant False SOX5@p.M205I 1 0.457142857 ENSG00000134532 chr12:23740993-23740993;C/G missense_variant False SOX5@p.L341F 1 0.5 ENSG00000134532 chr12:23604528-23604528;T/G missense_variant False SOX5@p.G116Vfs*24 1 0.36 ENSG00000134532 chr12:23846119-23846119;T/- frameshift_variant False SOX5@p.E42K 1 0.060185185 ENSG00000134532 chr12:23895939-23895939;C/T missense_variant False SOX5@p.E390K 1 0.417475728 ENSG00000134532 chr12:23575835-23575835;C/T missense_variant False SOX6@p.Q35K 1 0.1 ENSG00000110693 chr11:16341146-16341146;G/T missense_variant False SOX6@p.R93Q 1 0.393939394 ENSG00000110693 chr11:16318613-16318613;C/T missense_variant False SOX6@p.S387L 1 0.148148148 ENSG00000110693 chr11:16055843-16055843;G/A missense_variant False SOX6@p.S462I 1 0.155844156 ENSG00000110693 chr11:16049805-16049805;C/A missense_variant False SOX7@p.E216Q 1 0.378378378 ENSG00000171056 chr8:10726259-10726259;C/G missense_variant False SOX7@p.K91N 1 0.217391304 ENSG00000171056 chr8:10726632-10726632;C/G missense_variant False SOX7@p.P339S 1 0.481481481 ENSG00000171056 chr8:10725890-10725890;G/A missense_variant False SOX8@p.G384S 1 0.208333333 ENSG00000005513 chr16:985195-985195;G/A missense_variant False SOX8@p.R149Q 1 0.333333333 ENSG00000005513 chr16:983751-983751;G/A missense_variant False SOX8@p.R159G 1 0.081081081 ENSG00000005513 chr16:983780-983780;C/G missense_variant False SOX9@p.D444Y 1 0.545454545 ENSG00000125398 chr17:72124187-72124187;G/T missense_variant True SOX9@p.M218I 1 0.164835165 ENSG00000125398 chr17:72122941-72122941;G/A missense_variant True SOX9@p.R257H 1 0.300925926 ENSG00000125398 chr17:72123627-72123627;G/A missense_variant True SP100@p.D736H 1 0.510204082 ENSG00000067066 chr2:230515206-230515206;G/C missense_variant False SP100@p.E15Q 1 0.12173913 ENSG00000067066 chr2:230417601-230417601;G/C missense_variant False SP100@p.E633K 1 0.333333333 ENSG00000067066 chr2:230506329-230506329;G/A missense_variant False SP100@p.E735K 1 0.242105263 ENSG00000067066 chr2:230515203-230515203;G/A missense_variant False SOX5@p.E232Q 1 0.327272727 ENSG00000134532 chr12:23740914-23740914;C/G missense_variant False SOX5@p.E115D 1 0.083333333 ENSG00000134532 chr12:23846119-23846119;T/A missense_variant False SOSTDC1@p.K186R 1 0.454976303 ENSG00000171243 chr7:16462612-16462612;T/C missense_variant False SOX12@p.E294K 1 0.452380952 ENSG00000177732 chr20:326804-326804;G/A missense_variant False SOX17@p.V370M 1 0.366666667 ENSG00000164736 chr8:54459858-54459858;G/A missense_variant False SOX17@p.L367V 1 0.340909091 ENSG00000164736 chr8:54459849-54459849;C/G missense_variant False SOX14@p.T211N 1 0.225806452 ENSG00000168875 chr3:137765416-137765416;C/A missense_variant False SOX14@p.R10L 1 0.298245614 ENSG00000168875 chr3:137764813-137764813;G/T missense_variant False SOX12@p.K86M 1 0.107142857 ENSG00000177732 chr20:326181-326181;A/T missense_variant False SOX12@p.I308M 1 0.161904762 ENSG00000177732 chr20:326848-326848;C/G missense_variant False SOX10@p.R178Gfs*108 1 0.4 ENSG00000100146 chr22:37978033-37978033;C/- frameshift_variant False SOX5@p.D749V 1 0.266666667 ENSG00000134532 chr12:23534265-23534265;T/A missense_variant False SOWAHD@p.S286L 1 0.166666667 ENSG00000187808 chrX:119759524-119759524;C/T missense_variant False SOWAHC@p.R507Q 1 0.28 ENSG00000198142 chr2:109616009-109616009;G/A missense_variant False SOWAHC@p.G525R 1 0.441176471 ENSG00000198142 chr2:109616062-109616062;G/C missense_variant False SOWAHB@p.S409T 1 0.390243902 ENSG00000186212 chr4:76896624-76896624;C/G missense_variant False SOWAHB@p.R582I 1 0.383333333 ENSG00000186212 chr4:76896105-76896105;C/A missense_variant False SOWAHB@p.E789K 1 0.5 ENSG00000186212 chr4:76895485-76895485;C/T missense_variant False SOX18@p.Q105E 1 0.076923077 ENSG00000203883 chr20:64049204-64049204;G/C missense_variant False SOX1@p.A109V 1 0.333333333 ENSG00000182968 chr13:112067984-112067984;C/T missense_variant False SOX1@p.P25R 1 0.454545455 ENSG00000182968 chr13:112067732-112067732;C/G missense_variant False SOX2@p.A29Rfs*8 1 0.266666667 ENSG00000181449 chr3:181712442-181712469;GCGGCGGCCGGCGGCAACCAGAAAAACA/- frameshift_variant False SOX2@p.D269Y 1 0.366459627 ENSG00000181449 chr3:181713165-181713165;G/T missense_variant False SOX2@p.E84Gfs*19 1 0.13559322 ENSG00000181449 chr3:181712611-181712611;A/- frameshift_variant False SOX2@p.L97R 1 0.133333333 ENSG00000181449 chr3:181712650-181712650;T/G missense_variant False SOX2@p.R40C 1 0.192307692 ENSG00000181449 chr3:181712478-181712478;C/T missense_variant False SOX2@p.R98Q 1 0.283783784 ENSG00000181449 chr3:181712653-181712653;G/A missense_variant False SOX30@p.R179P 1 0.19379845 ENSG00000039600 chr5:157651543-157651543;C/G missense_variant False SOX3@p.R172C 1 0.154135338 ENSG00000134595 chrX:140504547-140504547;G/A missense_variant False SOX4@p.R110P 1 0.25 ENSG00000124766 chr6:21594863-21594863;G/C missense_variant False SOX4@p.S459W 1 0.4 ENSG00000124766 chr6:21595910-21595910;C/G missense_variant False SOX4@p.Y449C 1 0.434782609 ENSG00000124766 chr6:21595880-21595880;A/G missense_variant False SOX5@p.A228D 1 0.472222222 ENSG00000134532 chr12:23740925-23740925;G/T missense_variant False SOX5@p.C633Y 1 0.428571429 ENSG00000134532 chr12:23536543-23536543;C/T missense_variant False SOX5@p.D45Y 1 0.153846154 ENSG00000134532 chr12:23895930-23895930;C/A missense_variant False SLC39A12@p.S10F 1 0.134328358 ENSG00000148482 chr10:17953305-17953305;C/T missense_variant False SLC39A12@p.N280S 1 0.373134328 ENSG00000148482 chr10:17977989-17977989;A/G missense_variant False TNR@p.L1073F 1 0.101694915 ENSG00000116147 chr1:175355533-175355533;C/G missense_variant False SETDB1@p.E1276Q 1 0.141025641 ENSG00000143379 chr1:150964314-150964314;G/C missense_variant False SETDB1@p.Y673C 1 0.294117647 ENSG00000143379 chr1:150950895-150950895;A/G missense_variant False SETDB1@p.P559S 1 0.131004367 ENSG00000143379 chr1:150950552-150950552;C/T missense_variant False SETDB1@p.E975Q 1 0.207920792 ENSG00000143379 chr1:150960985-150960985;G/C missense_variant False SETDB1@p.E696Q 1 0.201754386 ENSG00000143379 chr1:150950963-150950963;G/C missense_variant False SETDB1@p.E696K 1 0.056 ENSG00000143379 chr1:150950963-150950963;G/A missense_variant False SETDB1@p.E410Q 1 0.215384615 ENSG00000143379 chr1:150946973-150946973;G/C missense_variant False SETDB1@p.E1146Q 1 0.1875 ENSG00000143379 chr1:150963118-150963118;G/C missense_variant False SETDB2@p.S138L 1 0.387755102 ENSG00000136169 chr13:49476547-49476547;C/T missense_variant False SETDB1@p.E1022K 1 0.22 ENSG00000143379 chr1:150961126-150961126;G/A missense_variant False SETDB1@p.D890H 1 0.098591549 ENSG00000143379 chr1:150960730-150960730;G/C missense_variant False SETD9@p.P39A 1 0.641025641 ENSG00000155542 chr5:56911185-56911185;C/G missense_variant False SETD9@p.L260I 1 0.356164384 ENSG00000155542 chr5:56914932-56914932;C/A missense_variant False SETD9@p.E114K 1 0.422222222 ENSG00000155542 chr5:56911410-56911410;G/A missense_variant False SETD9@p.D67N 1 0.607142857 ENSG00000155542 chr5:56911269-56911269;G/A missense_variant False SETDB2@p.Q229L 1 0.413793103 ENSG00000136169 chr13:49476820-49476820;A/T missense_variant False SETMAR@p.D97N 1 0.418604651 ENSG00000170364 chr3:4313030-4313030;G/A missense_variant False SETD2@p.P2262S 1 0.296296296 ENSG00000181555 chr3:47057000-47057000;G/A missense_variant True SETX@p.L1343V 1 0.833333333 ENSG00000107290 chr9:132327571-132327571;G/C missense_variant False SETX@p.S1444F 1 0.252873563 ENSG00000107290 chr9:132327267-132327267;G/A missense_variant False SETX@p.R2674K 1 0.174496644 ENSG00000107290 chr9:132264252-132264252;C/T missense_variant False SETX@p.Q957E 1 0.6375 ENSG00000107290 chr9:132328729-132328729;G/C missense_variant False SETX@p.Q399E 1 0.185185185 ENSG00000107290 chr9:132330403-132330403;G/C missense_variant False SETX@p.P1278L 1 0.059907834 ENSG00000107290 chr9:132327765-132327765;G/A missense_variant False SETX@p.L1624V 1 0.057692308 ENSG00000107290 chr9:132326728-132326728;G/C missense_variant False SETX@p.K716R 1 0.276 ENSG00000107290 chr9:132329451-132329451;T/C missense_variant False SETX@p.D2113H 1 0.196428571 ENSG00000107290 chr9:132286482-132286482;C/G missense_variant False SETX@p.I2327L 1 0.428571429 ENSG00000107290 chr9:132275377-132275377;T/G missense_variant False SETX@p.H1842Y 1 0.147826087 ENSG00000107290 chr9:132300654-132300654;G/A missense_variant False SETX@p.E1576K 1 0.614583333 ENSG00000107290 chr9:132326872-132326872;C/T missense_variant False SETX@p.E1166K 1 0.320512821 ENSG00000107290 chr9:132328102-132328102;C/T missense_variant False SETX@p.E1068V 1 0.193548387 ENSG00000107290 chr9:132328395-132328395;T/A missense_variant False SETX@p.D377Y 1 0.666666667 ENSG00000107290 chr9:132330469-132330469;C/A missense_variant False SETD7@p.E151K 1 0.304 ENSG00000145391 chr4:139529142-139529142;C/T missense_variant False SETD6@p.W412C 1 0.234693878 ENSG00000103037 chr16:58518843-58518843;G/C missense_variant False SETD6@p.E396K 1 0.420289855 ENSG00000103037 chr16:58518793-58518793;G/A missense_variant False SETD2@p.S560L 1 0.152941176 ENSG00000181555 chr3:47122957-47122957;G/A missense_variant True SETD4@p.E117K 1 0.085106383 ENSG00000185917 chr21:36045959-36045959;C/T missense_variant False SETD4@p.D377Y 1 0.405405405 ENSG00000185917 chr21:36038209-36038209;C/A missense_variant False SETD3@p.R407K 1 0.351190476 ENSG00000183576 chr14:99400217-99400217;C/T missense_variant False SETD3@p.R336K 1 0.322580645 ENSG00000183576 chr14:99405289-99405289;C/T missense_variant False SETD3@p.A351T 1 0.137931034 ENSG00000183576 chr14:99405245-99405245;C/T missense_variant False SETD2@p.W1217L 1 0.084269663 ENSG00000181555 chr3:47120986-47120986;C/A missense_variant True SETD2@p.S2252F 1 0.25 ENSG00000181555 chr3:47057029-47057029;G/A missense_variant True SETD6@p.E237Q 1 0.383783784 ENSG00000103037 chr16:58516845-58516845;G/C missense_variant False SETD2@p.S1268F 1 0.419753086 ENSG00000181555 chr3:47120833-47120833;G/A missense_variant True SETD2@p.S1252L 1 0.111111111 ENSG00000181555 chr3:47120881-47120881;G/A missense_variant True SETD2@p.R2077Q 1 0.333333333 ENSG00000181555 chr3:47062226-47062226;C/T missense_variant True SETD2@p.R1543Q 1 0.365079365 ENSG00000181555 chr3:47113963-47113963;C/T missense_variant True SETD2@p.Q2298E 1 0.152542373 ENSG00000181555 chr3:47056892-47056892;G/C missense_variant True SETD2@p.Q2292E 1 0.533333333 ENSG00000181555 chr3:47056910-47056910;G/C missense_variant True SETD4@p.K423N 1 0.231527094 ENSG00000185917 chr21:36036171-36036171;C/G missense_variant False SETD4@p.L363F 1 0.108843537 ENSG00000185917 chr21:36038251-36038251;G/A missense_variant False SETD5@p.E200K 1 0.28 ENSG00000168137 chr3:9440486-9440486;G/A missense_variant False SETD5@p.E813Q 1 0.109090909 ENSG00000168137 chr3:9453829-9453829;G/C missense_variant False SETD5@p.G1045S 1 0.24 ENSG00000168137 chr3:9470867-9470867;G/A missense_variant False SETD5@p.G1085E 1 0.371428571 ENSG00000168137 chr3:9473294-9473294;G/A missense_variant False SETD5@p.K1194N 1 0.18 ENSG00000168137 chr3:9474533-9474533;G/T missense_variant False SETD5@p.K698R 1 0.081081081 ENSG00000168137 chr3:9447996-9447996;A/G missense_variant False SETD5@p.P1057L 1 0.210526316 ENSG00000168137 chr3:9470904-9470904;C/T missense_variant False SETD5@p.P1169S 1 0.237288136 ENSG00000168137 chr3:9474456-9474456;C/T missense_variant False SETD5@p.Q1363E 1 0.94 ENSG00000168137 chr3:9475849-9475849;C/G missense_variant False SETD5@p.S1171L 1 0.04964539 ENSG00000168137 chr3:9474463-9474463;C/T missense_variant False SETD5@p.S1301R 1 0.236111111 ENSG00000168137 chr3:9475665-9475665;C/A missense_variant False SETD5@p.S84C 1 0.333333333 ENSG00000168137 chr3:9434407-9434407;C/G missense_variant False SETD5@p.S942F 1 0.430769231 ENSG00000168137 chr3:9470559-9470559;C/T missense_variant False SETD6@p.E211Q 1 0.240740741 ENSG00000103037 chr16:58516632-58516632;G/C missense_variant False SETD6@p.E235K 1 0.181818182 ENSG00000103037 chr16:58516839-58516839;G/A missense_variant False SETX@p.S1994C 1 0.296703297 ENSG00000107290 chr9:132295997-132295997;G/C missense_variant False SETX@p.S631F 1 0.222222222 ENSG00000107290 chr9:132329706-132329706;G/A missense_variant False SETX@p.T1326P 1 0.485294118 ENSG00000107290 chr9:132327622-132327622;T/G missense_variant False SF3B1@p.E862K 1 0.132075472 ENSG00000115524 chr2:197400849-197400849;C/T missense_variant True SF3B1@p.Q903P 1 0.105263158 ENSG00000115524 chr2:197400725-197400725;T/G missense_variant True SF3B1@p.Q699E 1 0.75 ENSG00000115524 chr2:197402113-197402113;G/C missense_variant True SF3B1@p.Q206E 1 0.049122807 ENSG00000115524 chr2:197416791-197416791;G/C missense_variant True SF3B1@p.N185S 1 0.38590604 ENSG00000115524 chr2:197416853-197416853;T/C missense_variant True SF3B1@p.G740E 1 0.357142857 ENSG00000115524 chr2:197401989-197401989;C/T missense_variant True SF3B1@p.E902G 1 0.540540541 ENSG00000115524 chr2:197400728-197400728;T/C missense_variant True SF3B1@p.E860K 1 0.339285714 ENSG00000115524 chr2:197400855-197400855;C/T missense_variant True SF3A3@p.E232Q 1 0.205128205 ENSG00000183431 chr1:37979530-37979530;C/G missense_variant False SF3B1@p.E1029K 1 0.169230769 ENSG00000115524 chr2:197398510-197398510;C/T missense_variant True SF3B1@p.D255N 1 0.167701863 ENSG00000115524 chr2:197409911-197409911;C/T missense_variant True SF3B1@p.D1164Y 1 0.102564103 ENSG00000115524 chr2:197396105-197396105;C/A missense_variant True SF3B1@p.A176T 1 0.29787234 ENSG00000115524 chr2:197416881-197416881;C/T missense_variant True SF3A3@p.R199T 1 0.130952381 ENSG00000183431 chr1:37980680-37980680;C/G missense_variant False SF3A3@p.Q206H 1 0.085106383 ENSG00000183431 chr1:37980658-37980658;C/G missense_variant False SF3B1@p.R1245T 1 0.131578947 ENSG00000115524 chr2:197392994-197392994;C/G missense_variant True SF3B1@p.R198Q 1 0.201465201 ENSG00000115524 chr2:197416814-197416814;C/T missense_variant True SF3B1@p.R625C 1 0.385542169 ENSG00000115524 chr2:197402760-197402760;G/A missense_variant True SF3B2@p.E7K 1 0.761904762 ENSG00000087365 chr11:66052403-66052403;G/A missense_variant False SF3B2@p.P226A 1 0.152542373 ENSG00000087365 chr11:66057274-66057274;C/G missense_variant False SF3B2@p.R205W 1 0.210526316 ENSG00000087365 chr11:66056901-66056901;C/T missense_variant False SF3B2@p.S347F 1 0.120300752 ENSG00000087365 chr11:66058903-66058903;C/T missense_variant False SF3B3@p.D44Y 1 0.279069767 ENSG00000189091 chr16:70528932-70528932;G/T missense_variant False SF3B3@p.D688H 1 0.492537313 ENSG00000189091 chr16:70560520-70560520;G/C missense_variant False SF3B3@p.D688N 1 0.392156863 ENSG00000189091 chr16:70560520-70560520;G/A missense_variant False SF3B3@p.E1065K 1 0.1875 ENSG00000189091 chr16:70569070-70569070;G/A missense_variant False SF3B3@p.E178Q 1 0.186956522 ENSG00000189091 chr16:70530879-70530879;G/C missense_variant False SF3B3@p.E306Q 1 0.410526316 ENSG00000189091 chr16:70538413-70538413;G/C missense_variant False SF3B3@p.E649K 1 0.0456621 ENSG00000189091 chr16:70556964-70556964;G/A missense_variant False SF3B3@p.E649Q 1 0.176470588 ENSG00000189091 chr16:70556964-70556964;G/C missense_variant False SF3B3@p.F1009L 1 0.4375 ENSG00000189091 chr16:70568357-70568357;C/A missense_variant False SF3B3@p.F1182L 1 0.2 ENSG00000189091 chr16:70571705-70571705;C/G missense_variant False SF3A3@p.N38I 1 0.5 ENSG00000183431 chr1:37989579-37989579;T/A missense_variant False SF3A3@p.E112K 1 0.299319728 ENSG00000183431 chr1:37984749-37984749;C/T missense_variant False SETX@p.Y1743H 1 0.142857143 ENSG00000107290 chr9:132326371-132326371;A/G missense_variant False SEZ6L2@p.L454P 1 0.297297297 ENSG00000174938 chr16:29885597-29885597;A/G missense_variant False SEZ6L@p.E289Q 1 0.103448276 ENSG00000100095 chr22:26294321-26294321;G/C missense_variant False SEZ6L@p.E105K 1 0.692307692 ENSG00000100095 chr22:26292624-26292624;G/A missense_variant False SEZ6L@p.D547G 1 0.279661017 ENSG00000100095 chr22:26310795-26310795;A/G missense_variant False SEZ6L2@p.T154M 1 0.333333333 ENSG00000174938 chr16:29896872-29896872;G/A missense_variant False SEZ6L2@p.S874F 1 0.178082192 ENSG00000174938 chr16:29872269-29872269;G/A missense_variant False SEZ6L2@p.R295W 1 0.433333333 ENSG00000174938 chr16:29888696-29888696;G/A missense_variant False SEZ6L2@p.F876L 1 0.382352941 ENSG00000174938 chr16:29872262-29872262;G/C missense_variant False SF3A1@p.V282M 1 0.262626263 ENSG00000099995 chr22:30342233-30342233;C/T missense_variant False SEZ6L2@p.E444Q 1 0.134615385 ENSG00000174938 chr16:29885628-29885628;C/G missense_variant False SEZ6L2@p.E42K 1 0.230769231 ENSG00000174938 chr16:29897940-29897940;C/T missense_variant False SEZ6@p.S606F 1 0.48 ENSG00000063015 chr17:28959427-28959427;G/A missense_variant False SEZ6@p.R816C 1 0.088709677 ENSG00000063015 chr17:28957396-28957396;G/A missense_variant False SEZ6@p.K461del 1 0.141176471 ENSG00000063015 chr17:28960831-28960833;CTT/- inframe_deletion False SEZ6@p.D776G 1 0.136363636 ENSG00000063015 chr17:28957515-28957515;T/C missense_variant False SEZ6L@p.E496Q 1 0.410714286 ENSG00000100095 chr22:26306116-26306116;G/C missense_variant False SEZ6L@p.Q884K 1 0.045751634 ENSG00000100095 chr22:26365422-26365422;C/A missense_variant False SEZ6L@p.S1023C 1 0.264516129 ENSG00000100095 chr22:26380288-26380288;C/G missense_variant False SEZ6L@p.V780M 1 0.358208955 ENSG00000100095 chr22:26347844-26347844;G/A missense_variant False SF1@p.E168K 1 0.427536232 ENSG00000168066 chr11:64769587-64769587;C/T missense_variant False SF1@p.E59Q 1 0.380952381 ENSG00000168066 chr11:64773491-64773491;C/G missense_variant False SF1@p.G154A 1 0.818181818 ENSG00000168066 chr11:64769982-64769982;C/G missense_variant False SF1@p.G154W 1 0.363636364 ENSG00000168066 chr11:64769983-64769983;C/A missense_variant False SF1@p.I157F 1 0.423076923 ENSG00000168066 chr11:64769974-64769974;T/A missense_variant False SF1@p.L203F 1 0.363636364 ENSG00000168066 chr11:64769482-64769482;G/A missense_variant False SF1@p.N162S 1 0.327102804 ENSG00000168066 chr11:64769604-64769604;T/C missense_variant False SF1@p.P233A 1 0.260869565 ENSG00000168066 chr11:64769305-64769305;G/C missense_variant False SF1@p.Q144P 1 0.526315789 ENSG00000168066 chr11:64770012-64770012;T/G missense_variant False SF1@p.R21H 1 0.355371901 ENSG00000168066 chr11:64776596-64776596;C/T missense_variant False SF3A1@p.E463Q 1 0.070512821 ENSG00000099995 chr22:30339240-30339240;C/G missense_variant False SF3A1@p.L84V 1 0.468085106 ENSG00000099995 chr22:30346455-30346455;G/C missense_variant False SF3A1@p.P148S 1 0.136363636 ENSG00000099995 chr22:30345142-30345142;G/A missense_variant False SETD2@p.Q1361H 1 0.34 ENSG00000181555 chr3:47120553-47120553;C/G missense_variant True SETD2@p.P2202A 1 0.256410256 ENSG00000181555 chr3:47057180-47057180;G/C missense_variant True SLC39A12@p.L672F 1 0.156521739 ENSG00000148482 chr10:18042773-18042773;G/C missense_variant False SERPINC1@p.E145Q 1 0.26993865 ENSG00000117601 chr1:173911990-173911990;C/G missense_variant False SERPIND1@p.E72Q 1 0.337349398 ENSG00000099937 chr22:20779526-20779526;G/C missense_variant False SERPIND1@p.E247K 1 0.248120301 ENSG00000099937 chr22:20780051-20780051;G/A missense_variant False SERPINC1@p.R293W 1 0.405405405 ENSG00000117601 chr1:173909828-173909828;G/A missense_variant False SERPINC1@p.G12A 1 0.25 ENSG00000117601 chr1:173917225-173917225;C/G missense_variant False SERPINC1@p.E303Q 1 0.495049505 ENSG00000117601 chr1:173909798-173909798;C/G missense_variant False SERPINC1@p.E264K 1 0.173076923 ENSG00000117601 chr1:173909915-173909915;C/T missense_variant False SERPINC1@p.E145K 1 0.411214953 ENSG00000117601 chr1:173911990-173911990;C/T missense_variant False SERPIND1@p.M288I 1 0.245791246 ENSG00000099937 chr22:20780176-20780176;G/A missense_variant False SERPINB9@p.T10N 1 0.35391924 ENSG00000170542 chr6:2900583-2900583;G/T missense_variant False SERPINB9@p.H67R 1 0.198275862 ENSG00000170542 chr6:2896159-2896159;T/C missense_variant False SERPINB8@p.S72L 1 0.351351351 ENSG00000166401 chr18:63979847-63979847;C/T missense_variant False SERPINB8@p.S372F 1 0.265822785 ENSG00000166401 chr18:63987268-63987268;C/T missense_variant False SERPINB8@p.Q83E 1 0.5 ENSG00000166401 chr18:63979879-63979879;C/G missense_variant False SERPINB8@p.G64E 1 0.231788079 ENSG00000166401 chr18:63979823-63979823;G/A missense_variant False SERPIND1@p.K367N 1 0.213114754 ENSG00000099937 chr22:20784183-20784183;G/C missense_variant False SERPIND1@p.R492K 1 0.2 ENSG00000099937 chr22:20787041-20787041;G/A missense_variant False SETD2@p.L1525V 1 0.196261682 ENSG00000181555 chr3:47116636-47116636;G/C missense_variant True SERPINF1@p.D300Y 1 0.433962264 ENSG00000132386 chr17:1776643-1776643;G/T missense_variant False SERPINH1@p.E358Q 1 0.41509434 ENSG00000149257 chr11:75571898-75571898;G/C missense_variant False SERPINH1@p.A178V 1 0.125 ENSG00000149257 chr11:75566882-75566882;C/T missense_variant False SERPING1@p.R309K 1 0.313953488 ENSG00000149131 chr11:57606444-57606444;G/A missense_variant False SERPING1@p.C205_T214del 1 0.158273381 ENSG00000149131 chr11:57602090-57602119;CTTCACCTGTGTCCACCAGGCCCTGAAGGG/- inframe_deletion False SERPINF1@p.R174C 1 0.291666667 ENSG00000132386 chr17:1771952-1771952;C/T missense_variant False SERPINF1@p.D302N 1 0.606060606 ENSG00000132386 chr17:1776649-1776649;G/A missense_variant False SERPINF1@p.A156V 1 0.394736842 ENSG00000132386 chr17:1771899-1771899;C/T missense_variant False SERPINE1@p.L192F 1 0.080213904 ENSG00000106366 chr7:101131943-101131943;C/T missense_variant False SERPINE3@p.E32Q 1 0.163265306 ENSG00000253309 chr13:51341185-51341185;G/C missense_variant False SERPINE2@p.Q222K 1 0.225806452 ENSG00000135919 chr2:223991824-223991824;G/T missense_variant False SERPINE1@p.V152A 1 0.066914498 ENSG00000106366 chr7:101130604-101130604;T/C missense_variant False SERPINE1@p.T238M 1 0.163934426 ENSG00000106366 chr7:101133707-101133707;C/T missense_variant False SERPINE1@p.R154K 1 0.492307692 ENSG00000106366 chr7:101130610-101130610;G/A missense_variant False SERPINE1@p.P27S 1 0.227272727 ENSG00000106366 chr7:101128472-101128472;C/T missense_variant False SERPINB7@p.Q278E 1 0.387755102 ENSG00000166396 chr18:63804324-63804324;C/G missense_variant False SERPINB7@p.K180N 1 0.232432432 ENSG00000166396 chr18:63798689-63798689;G/C missense_variant False SERPINB6@p.L387V 1 0.214285714 ENSG00000124570 chr6:2948327-2948327;G/C missense_variant False SERPINA6@p.E138K 1 0.303030303 ENSG00000170099 chr14:94314237-94314237;C/T missense_variant False SERPINB11@p.I28M 1 0.442307692 ENSG00000206072 chr18:63710277-63710277;C/G missense_variant False SERPINB11@p.D137N 1 0.59375 ENSG00000206072 chr18:63716086-63716086;G/A missense_variant False SERPINB10@p.L4V 1 0.597826087 ENSG00000242550 chr18:63915520-63915520;C/G missense_variant False SERPINA9@p.P40R 1 0.125 ENSG00000170054 chr14:94469722-94469722;G/C missense_variant False SERPINA7@p.Q190E 1 0.106796117 ENSG00000123561 chrX:106036491-106036491;G/C missense_variant False SERPINA6@p.S237L 1 0.489361702 ENSG00000170099 chr14:94309910-94309910;G/A missense_variant False SERPINA6@p.A87D 1 0.1 ENSG00000170099 chr14:94314389-94314389;G/T missense_variant False SERPINB6@p.E285K 1 0.308510638 ENSG00000124570 chr6:2948633-2948633;C/T missense_variant False SERPINA6@p.A399V 1 0.239130435 ENSG00000170099 chr14:94304440-94304440;G/A missense_variant False SERPINA5@p.S86I 1 0.461538462 ENSG00000188488 chr14:94587619-94587619;G/T missense_variant False SERPINA5@p.S374L 1 0.155124654 ENSG00000188488 chr14:94592139-94592139;C/T missense_variant False SERPINA5@p.R21H 1 0.142857143 ENSG00000188488 chr14:94587424-94587424;G/A missense_variant False SERPINA5@p.C8Y 1 0.162790698 ENSG00000188488 chr14:94587385-94587385;G/A missense_variant False SERPINA4@p.K187N 1 0.312056738 ENSG00000100665 chr14:94564043-94564043;G/C missense_variant False SERPINB11@p.Q96P 1 0.125 ENSG00000206072 chr18:63712623-63712623;A/C missense_variant False SERPINB13@p.H129Y 1 0.179104478 ENSG00000197641 chr18:63592884-63592884;C/T missense_variant False SERPINB13@p.H368Y 1 0.096153846 ENSG00000197641 chr18:63597289-63597289;C/T missense_variant False SERPINB13@p.P249T 1 0.126666667 ENSG00000197641 chr18:63595158-63595158;C/A missense_variant False SERPINB13@p.S320L 1 0.142857143 ENSG00000197641 chr18:63597146-63597146;C/T missense_variant False SERPINB2@p.F16L 1 0.166666667 ENSG00000197632 chr18:63891492-63891492;C/G missense_variant False SERPINB2@p.Q311H 1 0.289473684 ENSG00000197632 chr18:63902990-63902990;G/T missense_variant False SERPINB2@p.R346K 1 0.243902439 ENSG00000197632 chr18:63903094-63903094;G/A missense_variant False SERPINB3@p.D76N 1 0.404255319 ENSG00000057149 chr18:63659524-63659524;C/T missense_variant False SERPINB3@p.L43F 1 0.282894737 ENSG00000057149 chr18:63661088-63661088;T/A missense_variant False SERPINB4@p.F182L 1 0.104166667 ENSG00000206073 chr18:63639700-63639700;G/C missense_variant False SERPINB4@p.H283Y 1 0.365853659 ENSG00000206073 chr18:63638045-63638045;G/A missense_variant False SERPINB5@p.E309Q 1 0.345238095 ENSG00000206075 chr18:63503519-63503519;G/C missense_variant False SERPINB5@p.H59D 1 0.153846154 ENSG00000206075 chr18:63486952-63486952;C/G missense_variant False SERPINB5@p.I358T 1 0.051282051 ENSG00000206075 chr18:63503667-63503667;T/C missense_variant False SERPINB5@p.S9L 1 0.366666667 ENSG00000206075 chr18:63484454-63484454;C/T missense_variant False SERPINB6@p.E264K 1 0.315315315 ENSG00000124570 chr6:2948696-2948696;C/T missense_variant False SERPINH1@p.F382L 1 0.54 ENSG00000149257 chr11:75571972-75571972;C/A missense_variant False SERPINH1@p.L324M 1 0.277777778 ENSG00000149257 chr11:75571796-75571796;C/A missense_variant False SERPINH1@p.S91L 1 0.25 ENSG00000149257 chr11:75566621-75566621;C/T missense_variant False SETBP1@p.A836D 1 0.094594595 ENSG00000152217 chr18:44951847-44951847;C/A missense_variant True SETBP1@p.E446K 1 0.448275862 ENSG00000152217 chr18:44950676-44950676;G/A missense_variant True SETBP1@p.E434Q 1 0.236024845 ENSG00000152217 chr18:44950640-44950640;G/C missense_variant True SETBP1@p.E370Q 1 0.075471698 ENSG00000152217 chr18:44950448-44950448;G/C missense_variant True SETBP1@p.E366K 1 0.275 ENSG00000152217 chr18:44950436-44950436;G/A missense_variant True SETBP1@p.E1216K 1 0.08974359 ENSG00000152217 chr18:44952986-44952986;G/A missense_variant True SETBP1@p.D880N 1 0.166666667 ENSG00000152217 chr18:44951978-44951978;G/A missense_variant True SET@p.N228K 1 0.146788991 ENSG00000119335 chr9:128693790-128693790;C/G missense_variant False SESN3@p.G211D 1 0.403726708 ENSG00000149212 chr11:95185386-95185386;C/T missense_variant False SET@p.D208Y 1 0.1125 ENSG00000119335 chr9:128693728-128693728;G/T missense_variant False SESTD1@p.L349V 1 0.339285714 ENSG00000187231 chr2:179124486-179124486;G/C missense_variant False SESTD1@p.D632N 1 0.345679012 ENSG00000187231 chr2:179112791-179112791;C/T missense_variant False SESN3@p.R98L 1 0.814285714 ENSG00000149212 chr11:95191453-95191453;C/A missense_variant False SESN3@p.L36F 1 0.21875 ENSG00000149212 chr11:95193493-95193493;C/G missense_variant False SESN3@p.H307Y 1 0.075 ENSG00000149212 chr11:95184438-95184438;G/A missense_variant False SETBP1@p.E474K 1 0.704761905 ENSG00000152217 chr18:44950760-44950760;G/A missense_variant True SETBP1@p.L518P 1 0.236111111 ENSG00000152217 chr18:44950893-44950893;T/C missense_variant True SETBP1@p.R498W 1 0.379310345 ENSG00000152217 chr18:44950832-44950832;C/T missense_variant True SETBP1@p.S298L 1 0.205128205 ENSG00000152217 chr18:44950233-44950233;C/T missense_variant True SETD1A@p.A702T 1 0.113636364 ENSG00000099381 chr16:30965985-30965985;G/A missense_variant False SETD1A@p.E831K 1 0.2 ENSG00000099381 chr16:30966372-30966372;G/A missense_variant False SETD1A@p.R689G 1 0.055214724 ENSG00000099381 chr16:30965946-30965946;C/G missense_variant False SETD1A@p.T1262N 1 0.1875 ENSG00000099381 chr16:30979571-30979571;C/A missense_variant False SETD1A@p.W1580L 1 0.136986301 ENSG00000099381 chr16:30981107-30981107;G/T missense_variant False SETD2@p.D647N 1 0.1328125 ENSG00000181555 chr3:47122697-47122697;C/T missense_variant True SETD2@p.E1104G 1 0.156626506 ENSG00000181555 chr3:47121325-47121325;T/C missense_variant True SETD2@p.E1907Q 1 0.127572016 ENSG00000181555 chr3:47084061-47084061;C/G missense_variant True SETD2@p.E2562K 1 0.294117647 ENSG00000181555 chr3:47017104-47017104;C/T missense_variant True SETD2@p.E2564K 1 0.275362319 ENSG00000181555 chr3:47017098-47017098;C/T missense_variant True SETD2@p.G1279R 1 0.329113924 ENSG00000181555 chr3:47120801-47120801;C/T missense_variant True SETD2@p.H1629Y 1 0.203389831 ENSG00000181555 chr3:47103378-47103378;G/A missense_variant True SETD2@p.K712E 1 0.274509804 ENSG00000181555 chr3:47122502-47122502;T/C missense_variant True SESN3@p.H109D 1 0.4 ENSG00000149212 chr11:95191421-95191421;G/C missense_variant False SESN3@p.E445D 1 0.338028169 ENSG00000149212 chr11:95175555-95175555;C/G missense_variant False SERPINI1@p.D373N 1 0.428571429 ENSG00000163536 chr3:167824523-167824523;G/A missense_variant False SERTAD2@p.E202K 1 0.235294118 ENSG00000179833 chr2:64636268-64636268;C/T missense_variant False SERTAD4@p.S16L 1 0.209944751 ENSG00000082497 chr1:210238007-210238007;C/T missense_variant False SERTAD4@p.D32V 1 0.157894737 ENSG00000082497 chr1:210238055-210238055;A/T missense_variant False SERTAD3@p.L57F 1 0.333333333 ENSG00000167565 chr19:40441912-40441912;G/A missense_variant False SERTAD3@p.L119F 1 0.350877193 ENSG00000167565 chr19:40441726-40441726;G/A missense_variant False SERTAD2@p.S254C 1 0.24691358 ENSG00000179833 chr2:64636111-64636111;G/C missense_variant False SERTAD2@p.E303Q 1 0.123287671 ENSG00000179833 chr2:64635965-64635965;C/G missense_variant False SERTAD1@p.P28S 1 0.625 ENSG00000197019 chr19:40423465-40423465;G/A missense_variant False SESN3@p.E394K 1 0.112149533 ENSG00000149212 chr11:95177786-95177786;C/T missense_variant False SERPINI2@p.S81L 1 0.325123153 ENSG00000114204 chr3:167471593-167471593;G/A missense_variant False SERPINI2@p.S382L 1 0.28 ENSG00000114204 chr3:167442182-167442182;G/A missense_variant False SERPINI2@p.S304Y 1 0.351351351 ENSG00000114204 chr3:167452989-167452989;G/T missense_variant False SERPINI2@p.Q78P 1 0.207792208 ENSG00000114204 chr3:167471602-167471602;T/G missense_variant False SERPINI2@p.L174V 1 0.290322581 ENSG00000114204 chr3:167465632-167465632;G/C missense_variant False SERPINI2@p.E255Q 1 0.101694915 ENSG00000114204 chr3:167465309-167465309;C/G missense_variant False SESN1@p.D358H 1 0.753846154 ENSG00000080546 chr6:108990820-108990820;C/G missense_variant False SESN1@p.E155D 1 0.333333333 ENSG00000080546 chr6:109000578-109000578;C/G missense_variant False SESN1@p.E377K 1 0.150943396 ENSG00000080546 chr6:108990763-108990763;C/T missense_variant False SESN1@p.E445Q 1 0.642857143 ENSG00000080546 chr6:108988602-108988602;C/G missense_variant False SESN1@p.L374F 1 0.35483871 ENSG00000080546 chr6:108990770-108990770;C/G missense_variant False SESN1@p.R485T 1 0.26 ENSG00000080546 chr6:108987569-108987569;C/G missense_variant False SESN1@p.S59L 1 0.404145078 ENSG00000080546 chr6:109093898-109093898;G/A missense_variant False SESN1@p.T448A 1 0.459459459 ENSG00000080546 chr6:108988593-108988593;T/C missense_variant False SESN1@p.Y490C 1 0.385964912 ENSG00000080546 chr6:108987554-108987554;T/C missense_variant False SESN2@p.E219K 1 0.152941176 ENSG00000130766 chr1:28272698-28272698;G/A missense_variant False SESN2@p.I425V 1 0.28 ENSG00000130766 chr1:28279158-28279158;A/G missense_variant False SESN3@p.D236N 1 0.532934132 ENSG00000149212 chr11:95185312-95185312;C/T missense_variant False SESN3@p.D240N 1 0.452941176 ENSG00000149212 chr11:95185300-95185300;C/T missense_variant False SESN3@p.D323N 1 0.291666667 ENSG00000149212 chr11:95178799-95178799;C/T missense_variant False SESN3@p.D418H 1 0.2 ENSG00000149212 chr11:95175638-95175638;C/G missense_variant False SESN3@p.E279K 1 0.405063291 ENSG00000149212 chr11:95184522-95184522;C/T missense_variant False SESN3@p.E357K 1 0.217391304 ENSG00000149212 chr11:95177897-95177897;C/T missense_variant False SF3B3@p.G354A 1 0.544642857 ENSG00000189091 chr16:70539201-70539201;G/C missense_variant False SF3B3@p.G695E 1 0.476635514 ENSG00000189091 chr16:70560542-70560542;G/A missense_variant False SF3B3@p.G81D 1 0.12745098 ENSG00000189091 chr16:70529044-70529044;G/A missense_variant False SH3BP4@p.Q4E 1 0.216216216 ENSG00000130147 chr2:235035012-235035012;C/G missense_variant False SH3BP5L@p.R262C 1 0.2 ENSG00000175137 chr1:248812298-248812298;G/A missense_variant False SH3BP5L@p.R19W 1 0.695652174 ENSG00000175137 chr1:248824881-248824881;G/A missense_variant False SH3BP5@p.K415Q 1 0.092783505 ENSG00000131370 chr3:15256211-15256211;T/G missense_variant False SH3BP5@p.K244N 1 0.404761905 ENSG00000131370 chr3:15258988-15258988;C/G missense_variant False SH3BP4@p.R710T 1 0.235294118 ENSG00000130147 chr2:235042898-235042898;G/C missense_variant False SH3BP4@p.Q579E 1 0.094339623 ENSG00000130147 chr2:235042504-235042504;C/G missense_variant False SH3BP4@p.P342L 1 0.387755102 ENSG00000130147 chr2:235041794-235041794;C/T missense_variant False SH3D19@p.C576Y 1 0.197183099 ENSG00000109686 chr4:151133225-151133225;C/T missense_variant False SH3BP4@p.M924I 1 0.240566038 ENSG00000130147 chr2:235053696-235053696;G/A missense_variant False SH3BP4@p.M395I 1 0.432432432 ENSG00000130147 chr2:235041954-235041954;G/A missense_variant False SH3BP4@p.G327R 1 0.268817204 ENSG00000130147 chr2:235041748-235041748;G/A missense_variant False SH3BP4@p.G13D 1 0.12195122 ENSG00000130147 chr2:235035040-235035040;G/A missense_variant False SH3BP4@p.E32K 1 0.177777778 ENSG00000130147 chr2:235035096-235035096;G/A missense_variant False SH3BP2@p.R369Kfs*26 1 0.64516129 ENSG00000087266 chr4:2830003-2830004;-/C frameshift_variant False SH3BP5L@p.R287W 1 0.136363636 ENSG00000175137 chr1:248812223-248812223;G/A missense_variant False SH3D19@p.E127D 1 0.465116279 ENSG00000109686 chr4:151174983-151174983;C/G missense_variant False SF3B3@p.K541N 1 0.335664336 ENSG00000189091 chr16:70555119-70555119;G/C missense_variant False SH3GL1@p.E162K 1 0.53125 ENSG00000141985 chr19:4363860-4363860;C/T missense_variant False SH3GL3@p.D30H 1 0.375 ENSG00000140600 chr15:83559295-83559295;G/C missense_variant False SH3GL2@p.S336L 1 0.203883495 ENSG00000107295 chr9:17795691-17795691;C/T missense_variant False SH3GL2@p.Q222E 1 0.806451613 ENSG00000107295 chr9:17791270-17791270;C/G missense_variant False SH3GL1@p.S271F 1 0.226666667 ENSG00000141985 chr19:4362653-4362653;G/A missense_variant False SH3GL1@p.R297W 1 0.380952381 ENSG00000141985 chr19:4362350-4362350;G/A missense_variant False SH3GL1@p.E188D 1 0.18487395 ENSG00000141985 chr19:4363780-4363780;C/G missense_variant False SH3GL1@p.E126K 1 0.481481481 ENSG00000141985 chr19:4364177-4364177;C/T missense_variant False SH3D19@p.E345K 1 0.333333333 ENSG00000109686 chr4:151148131-151148131;C/T missense_variant False SH3GL1@p.A24S 1 0.234146341 ENSG00000141985 chr19:4366970-4366970;C/A missense_variant False SH3D21@p.I660M 1 0.128571429 ENSG00000214193 chr1:36320643-36320643;C/G missense_variant False SH3D19@p.S567T 1 0.429752066 ENSG00000109686 chr4:151135090-151135090;A/T missense_variant False SH3D19@p.S358C 1 0.421052632 ENSG00000109686 chr4:151148091-151148091;G/C missense_variant False SH3D19@p.R318Q 1 0.129251701 ENSG00000109686 chr4:151149524-151149524;C/T missense_variant False SH3D19@p.E424K 1 0.064935065 ENSG00000109686 chr4:151144261-151144261;C/T missense_variant False SH3BP2@p.K97N 1 0.142857143 ENSG00000087266 chr4:2824664-2824664;G/C missense_variant False SH3BGR@p.M112I 1 0.166666667 ENSG00000185437 chr21:39462476-39462476;G/A missense_variant False SH2D7@p.S407L 1 0.25 ENSG00000183476 chr15:78101473-78101473;C/T missense_variant False SH2B3@p.R457W 1 0.2 ENSG00000111252 chr12:111447788-111447788;C/T missense_variant False SH2D2A@p.E123K 1 0.148148148 ENSG00000027869 chr1:156814236-156814236;C/T missense_variant False SH2D2A@p.C9R 1 0.229166667 ENSG00000027869 chr1:156816684-156816684;A/G missense_variant False SH2D1B@p.P77A 1 0.081081081 ENSG00000198574 chr1:162399057-162399057;G/C missense_variant False SH2D1B@p.E87Q 1 0.064676617 ENSG00000198574 chr1:162399027-162399027;C/G missense_variant False SH2D1A@p.H73Y 1 0.366492147 ENSG00000183918 chrX:124370191-124370191;C/T missense_variant False SH2B3@p.S433L 1 0.06147541 ENSG00000111252 chr12:111447717-111447717;C/T missense_variant False SH2B3@p.C454Y 1 0.285714286 ENSG00000111252 chr12:111447780-111447780;G/A missense_variant False SH2D7@p.S234C 1 0.196428571 ENSG00000183476 chr15:78100954-78100954;C/G missense_variant False SH2B2@p.A471T 1 0.352941176 ENSG00000160999 chr7:102317282-102317282;G/A missense_variant False SH2B1@p.R330G 1 0.161016949 ENSG00000178188 chr16:28867379-28867379;C/G missense_variant False SH2B1@p.R316W 1 0.395721925 ENSG00000178188 chr16:28867337-28867337;C/T missense_variant False SH2B1@p.R305L 1 0.454545455 ENSG00000178188 chr16:28867008-28867008;G/T missense_variant False SH2B1@p.P94L 1 0.472222222 ENSG00000178188 chr16:28866375-28866375;C/T missense_variant False SH2B1@p.D339H 1 0.261682243 ENSG00000178188 chr16:28867406-28867406;G/C missense_variant False SH2D2A@p.E285K 1 0.091445428 ENSG00000027869 chr1:156809352-156809352;C/T missense_variant False SH2D2A@p.S327Y 1 0.282967033 ENSG00000027869 chr1:156809225-156809225;G/T missense_variant False SH2D3A@p.E220K 1 0.463492063 ENSG00000125731 chr19:6755154-6755154;C/T missense_variant False SH2D3A@p.R436Q 1 0.421052632 ENSG00000125731 chr19:6754129-6754129;C/T missense_variant False SH2D3C@p.A510V 1 0.101123596 ENSG00000095370 chr9:127744835-127744835;G/A missense_variant False SH2D3C@p.F17L 1 0.089285714 ENSG00000095370 chr9:127774454-127774454;G/C missense_variant False SH2D3C@p.G109R 1 0.342105263 ENSG00000095370 chr9:127774180-127774180;C/T missense_variant False SH2D3C@p.P432T 1 0.363636364 ENSG00000095370 chr9:127745070-127745070;G/T missense_variant False SH2D3C@p.R224H 1 0.378787879 ENSG00000095370 chr9:127751185-127751185;C/T missense_variant False SH2D3C@p.R82C 1 0.369565217 ENSG00000095370 chr9:127774261-127774261;G/A missense_variant False SH2D4A@p.E100K 1 0.230769231 ENSG00000104611 chr8:19333071-19333071;G/A missense_variant False SH2D4A@p.E109K 1 0.363636364 ENSG00000104611 chr8:19333098-19333098;G/A missense_variant False SH2D4A@p.I170V 1 0.15 ENSG00000104611 chr8:19334852-19334852;A/G missense_variant False SH2D4A@p.S118C 1 0.391304348 ENSG00000104611 chr8:19334697-19334697;C/G missense_variant False SH2D4A@p.S399C 1 0.168224299 ENSG00000104611 chr8:19393465-19393465;C/G missense_variant False SH2D4B@p.G420R 1 0.212765957 ENSG00000178217 chr10:80644041-80644041;G/A missense_variant False SH2D5@p.R199W 1 0.46 ENSG00000189410 chr1:20724431-20724431;G/A missense_variant False SH3GL3@p.Q59K 1 0.339622642 ENSG00000140600 chr15:83565194-83565194;C/A missense_variant False SH3GLB1@p.Y238C 1 0.214723926 ENSG00000097033 chr1:86735131-86735131;A/G missense_variant False SH3GLB2@p.G126A 1 0.944444444 ENSG00000148341 chr9:129014862-129014862;C/G missense_variant False SHANK1@p.P2078L 1 0.222222222 ENSG00000161681 chr19:50662218-50662218;G/A missense_variant False SHANK2@p.E1716Q 1 0.794117647 ENSG00000162105 chr11:70473273-70473273;C/G missense_variant False SHANK2@p.E1020K 1 0.064 ENSG00000162105 chr11:70487235-70487235;C/T missense_variant False SHANK2@p.A999P 1 0.386206897 ENSG00000162105 chr11:70487298-70487298;C/G missense_variant False SHANK2@p.A1191T 1 0.234375 ENSG00000162105 chr11:70486722-70486722;C/T missense_variant False SHANK1@p.S71N 1 0.245283019 ENSG00000161681 chr19:50716708-50716708;C/T missense_variant False SHANK1@p.S1861L 1 0.196078431 ENSG00000161681 chr19:50666378-50666378;G/A missense_variant False SHANK1@p.L2155F 1 0.220338983 ENSG00000161681 chr19:50661988-50661988;G/A missense_variant False SH3TC2@p.R346K 1 0.164383562 ENSG00000169247 chr5:149031652-149031652;C/T missense_variant False SHANK1@p.I96T 1 0.323529412 ENSG00000161681 chr19:50716447-50716447;A/G missense_variant False SHANK1@p.G533D 1 1.0 ENSG00000161681 chr19:50702616-50702616;C/T missense_variant False SHANK1@p.E1819Q 1 0.28 ENSG00000161681 chr19:50666505-50666505;C/G missense_variant False SHANK1@p.D241N 1 0.536231884 ENSG00000161681 chr19:50713869-50713869;C/T missense_variant False SHANK1@p.D1795H 1 0.185185185 ENSG00000161681 chr19:50666577-50666577;C/G missense_variant False SH3YL1@p.R177T 1 0.239130435 ENSG00000035115 chr2:233104-233104;C/G missense_variant False SHANK2@p.E635Q 1 0.361290323 ENSG00000162105 chr11:70661629-70661629;C/G missense_variant False SHANK2@p.L1616I 1 0.38317757 ENSG00000162105 chr11:70485447-70485447;G/T missense_variant False SHANK2@p.Q1821H 1 0.044444444 ENSG00000162105 chr11:70472956-70472956;C/G missense_variant False SHANK2@p.R1706C 1 0.098039216 ENSG00000162105 chr11:70473303-70473303;G/A missense_variant False SHANK2@p.R1832Q 1 0.283088235 ENSG00000162105 chr11:70472924-70472924;C/T missense_variant False SHANK2@p.R845Q 1 0.111111111 ENSG00000162105 chr11:70490293-70490293;C/T missense_variant False SHANK2@p.W1786C 1 0.242718447 ENSG00000162105 chr11:70473061-70473061;C/A missense_variant False SHANK3@p.D376N 1 0.333333333 ENSG00000251322 chr22:50694870-50694870;G/A missense_variant False SHANK3@p.P757R 1 0.144736842 ENSG00000251322 chr22:50715694-50715694;C/G missense_variant False SHANK3@p.S1158C 1 0.131578947 ENSG00000251322 chr22:50721326-50721326;A/T missense_variant False SHANK3@p.S605L 1 0.269230769 ENSG00000251322 chr22:50704801-50704801;C/T missense_variant False SHARPIN@p.E188K 1 0.220338983 ENSG00000179526 chr8:144099800-144099800;C/T missense_variant False SHB@p.E421K 1 0.4 ENSG00000107338 chr9:37948720-37948720;C/T missense_variant False SHB@p.L256V 1 0.734939759 ENSG00000107338 chr9:38016083-38016083;G/C missense_variant False SHBG@p.F85L 1 0.432432432 ENSG00000129214 chr17:7630731-7630731;T/G missense_variant False SHBG@p.P335T 1 0.583333333 ENSG00000129214 chr17:7632902-7632902;C/A missense_variant False SHC1@p.E465K 1 0.455882353 ENSG00000160691 chr1:154965773-154965773;C/T missense_variant False SH3YL1@p.G307A 1 0.118421053 ENSG00000035115 chr2:218920-218920;C/G missense_variant False SH3TC2@p.L305Ffs*22 1 0.1875 ENSG00000169247 chr5:149038384-149038384;C/- frameshift_variant False SH3KBP1@p.D460N 1 0.267045455 ENSG00000147010 chrX:19569109-19569109;C/T missense_variant False SH3PXD2A@p.G190R 1 0.191489362 ENSG00000107957 chr10:103661019-103661019;C/T missense_variant False SH3PXD2B@p.E462K 1 0.297297297 ENSG00000174705 chr5:172339721-172339721;C/T missense_variant False SH3PXD2B@p.E443K 1 0.444444444 ENSG00000174705 chr5:172339778-172339778;C/T missense_variant False SH3PXD2B@p.E186K 1 0.346938776 ENSG00000174705 chr5:172362741-172362741;C/T missense_variant False SH3PXD2A@p.S37F 1 0.206349206 ENSG00000107957 chr10:103801325-103801325;G/A missense_variant False SH3PXD2A@p.R519W 1 0.484848485 ENSG00000107957 chr10:103603663-103603663;G/A missense_variant False SH3PXD2A@p.M166I 1 0.335294118 ENSG00000107957 chr10:103661089-103661089;C/T missense_variant False SH3PXD2A@p.E798K 1 0.515837104 ENSG00000107957 chr10:103602826-103602826;C/T missense_variant False SH3TC2@p.I1027M 1 0.275862069 ENSG00000169247 chr5:149012707-149012707;G/C missense_variant False SH3PXD2A@p.D88Y 1 0.615384615 ENSG00000107957 chr10:103735776-103735776;C/A missense_variant False SH3PXD2A@p.A163T 1 0.136 ENSG00000107957 chr10:103661100-103661100;C/T missense_variant False SH3KBP1@p.V395A 1 0.078431373 ENSG00000147010 chrX:19588757-19588757;A/G missense_variant False SH3KBP1@p.P550L 1 0.48 ENSG00000147010 chrX:19542168-19542168;G/A missense_variant False SH3KBP1@p.K143N 1 0.444444444 ENSG00000147010 chrX:19695703-19695703;C/G missense_variant False SH3KBP1@p.I224M 1 0.059701493 ENSG00000147010 chrX:19683877-19683877;G/C missense_variant False SH3PXD2B@p.G386D 1 0.375 ENSG00000174705 chr5:172346167-172346167;C/T missense_variant False SH3PXD2B@p.L812Ffs*6 1 0.433333333 ENSG00000174705 chr5:172338669-172338670;-/A frameshift_variant False SH3RF1@p.E46A 1 0.204545455 ENSG00000154447 chr4:169269076-169269076;T/G missense_variant False SH3RF1@p.L823F 1 0.553191489 ENSG00000154447 chr4:169106876-169106876;C/G missense_variant False SH3RF1@p.P13R 1 0.146341463 ENSG00000154447 chr4:169269175-169269175;G/C missense_variant False SH3RF1@p.P220A 1 0.086956522 ENSG00000154447 chr4:169156415-169156415;G/C missense_variant False SH3RF1@p.P807S 1 0.369047619 ENSG00000154447 chr4:169106926-169106926;G/A missense_variant False SH3RF1@p.R477C 1 0.5 ENSG00000154447 chr4:169120907-169120907;G/A missense_variant False SH3RF1@p.S739L 1 0.428571429 ENSG00000154447 chr4:169107129-169107129;G/A missense_variant False SH3RF1@p.S772Y 1 0.3125 ENSG00000154447 chr4:169107030-169107030;G/T missense_variant False SH3RF2@p.R427P 1 0.267857143 ENSG00000156463 chr5:146049203-146049203;G/C missense_variant False SH3RF2@p.S331F 1 0.122580645 ENSG00000156463 chr5:146013994-146013994;C/T missense_variant False SH3TC1@p.E1087K 1 1.0 ENSG00000125089 chr4:8233490-8233490;G/A missense_variant False SH3TC1@p.E1231D 1 0.136363636 ENSG00000125089 chr4:8237610-8237610;G/C missense_variant False SH3TC1@p.E183K 1 0.473684211 ENSG00000125089 chr4:8216176-8216176;G/A missense_variant False SH3TC1@p.S319L 1 0.587719298 ENSG00000125089 chr4:8219374-8219374;C/T missense_variant False SH3TC2@p.E155K 1 0.360655738 ENSG00000169247 chr5:149042760-149042760;C/T missense_variant False SGTB@p.S230N 1 0.435714286 ENSG00000197860 chr5:65672274-65672274;C/T missense_variant False SGTB@p.F43S 1 0.425531915 ENSG00000197860 chr5:65713037-65713037;A/G missense_variant False SGSM3@p.R602T 1 0.270588235 ENSG00000100359 chr22:40408649-40408649;G/C missense_variant False SFRP5@p.Q275_L276insM 1 0.361702128 ENSG00000120057 chr10:97767642-97767643;-/CAT inframe_insertion False SFTA2@p.G19E 1 0.260869565 ENSG00000196260 chr6:30932041-30932041;C/T missense_variant False SFT2D2@p.I103M 1 0.059633028 ENSG00000213064 chr1:168235173-168235173;C/G missense_variant False SFSWAP@p.Y499H 1 0.260869565 ENSG00000061936 chr12:131755426-131755426;T/C missense_variant False SFSWAP@p.E179K 1 0.309859155 ENSG00000061936 chr12:131719468-131719468;G/A missense_variant False SFSWAP@p.E101K 1 0.151515152 ENSG00000061936 chr12:131714153-131714153;G/A missense_variant False SFSWAP@p.A626V 1 0.146666667 ENSG00000061936 chr12:131764612-131764612;C/T missense_variant False SFRP4@p.S311R 1 0.105263158 ENSG00000106483 chr7:37907587-37907587;A/T missense_variant False SFRP2@p.C40S 1 0.093333333 ENSG00000145423 chr4:153788718-153788718;A/T missense_variant False SFRP4@p.K324Nfs*57 1 0.267080745 ENSG00000106483 chr7:37907551-37907551;G/- frameshift_variant False SFRP4@p.I223F 1 0.317460317 ENSG00000106483 chr7:37912243-37912243;T/A missense_variant False SFRP4@p.E121D 1 0.397058824 ENSG00000106483 chr7:37916175-37916175;T/G missense_variant False SFRP4@p.A22V 1 0.173913043 ENSG00000106483 chr7:37916473-37916473;G/A missense_variant False SFRP2@p.S235L 1 0.49 ENSG00000145423 chr4:153781635-153781635;G/A missense_variant False SFRP2@p.E67D 1 0.318965517 ENSG00000145423 chr4:153788635-153788635;C/G missense_variant False SFTPA2@p.R157T 1 0.238993711 ENSG00000185303 chr10:79557486-79557486;C/G missense_variant False SFTPA2@p.R199H 1 0.190082645 ENSG00000185303 chr10:79557360-79557360;C/T missense_variant False SFTPA2@p.R47T 1 0.226993865 ENSG00000185303 chr10:79559344-79559344;C/G missense_variant False SFTPB@p.A184T 1 0.466666667 ENSG00000168878 chr2:85665638-85665638;C/T missense_variant False SFTPC@p.S17F 1 0.322033898 ENSG00000168484 chr8:22162581-22162581;C/T missense_variant False SFXN1@p.K253N 1 0.369565217 ENSG00000164466 chr5:175516648-175516648;G/T missense_variant False SFXN2@p.F94L 1 0.456521739 ENSG00000156398 chr10:102727107-102727107;C/G missense_variant False SFXN2@p.L297V 1 0.57 ENSG00000156398 chr10:102737682-102737682;C/G missense_variant False SFXN2@p.S76W 1 0.3 ENSG00000156398 chr10:102727052-102727052;C/G missense_variant False SFXN3@p.F130L 1 0.476190476 ENSG00000107819 chr10:101036048-101036048;C/G missense_variant False SFXN3@p.F31L 1 0.301435407 ENSG00000107819 chr10:101034775-101034775;T/A missense_variant False SFXN4@p.D51H 1 0.619047619 ENSG00000183605 chr10:119164157-119164157;C/G missense_variant False SFXN4@p.E220Q 1 0.327272727 ENSG00000183605 chr10:119155136-119155136;C/G missense_variant False SFXN4@p.M125I 1 0.304347826 ENSG00000183605 chr10:119158048-119158048;C/T missense_variant False SFXN5@p.D21Y 1 0.217391304 ENSG00000144040 chr2:73071645-73071645;C/A missense_variant False SFXN5@p.F163L 1 0.186046512 ENSG00000144040 chr2:72998994-72998994;G/T missense_variant False SGCA@p.D114N 1 0.265306122 ENSG00000108823 chr17:50167974-50167974;G/A missense_variant False SFRP2@p.D180N 1 0.456521739 ENSG00000145423 chr4:153785909-153785909;C/T missense_variant False SFRP1@p.M298I 1 0.52173913 ENSG00000104332 chr8:41265218-41265218;C/T missense_variant False SGCB@p.E248Q 1 0.159663866 ENSG00000163069 chr4:52027979-52027979;C/G missense_variant False SF3B3@p.Y693D 1 0.266666667 ENSG00000189091 chr16:70560535-70560535;T/G missense_variant False SFI1@p.E992K 1 0.333333333 ENSG00000198089 chr22:31613833-31613833;G/A missense_variant False SFI1@p.A948T 1 0.25 ENSG00000198089 chr22:31613701-31613701;G/A missense_variant False SF3B5@p.H46R 1 0.205607477 ENSG00000169976 chr6:144095361-144095361;T/C missense_variant False SF3B5@p.D3N 1 0.6 ENSG00000169976 chr6:144095491-144095491;C/T missense_variant False SF3B4@p.S242F 1 0.395348837 ENSG00000143368 chr1:149926024-149926024;G/A missense_variant False SF3B4@p.P370S 1 0.75 ENSG00000143368 chr1:149923709-149923709;G/A missense_variant False SF3B3@p.V699M 1 0.20754717 ENSG00000189091 chr16:70560553-70560553;G/A missense_variant False SFRP1@p.I167M 1 0.266666667 ENSG00000104332 chr8:41308659-41308659;G/C missense_variant False SF3B3@p.T1035A 1 0.37254902 ENSG00000189091 chr16:70568433-70568433;A/G missense_variant False SF3B3@p.R552Q 1 0.371428571 ENSG00000189091 chr16:70555151-70555151;G/A missense_variant False SF3B3@p.R42C 1 0.166666667 ENSG00000189091 chr16:70528926-70528926;C/T missense_variant False SF3B3@p.N1172Efs*4 1 0.108910891 ENSG00000189091 chr16:70571196-70571197;-/A frameshift_variant False SF3B3@p.M1093I 1 0.233766234 ENSG00000189091 chr16:70570020-70570020;G/T missense_variant False SF3B3@p.L669Q 1 0.644067797 ENSG00000189091 chr16:70557025-70557025;T/A missense_variant False SFI1@p.H1162Y 1 0.258064516 ENSG00000198089 chr22:31617050-31617050;C/T missense_variant False SFI1@p.L525F 1 0.383561644 ENSG00000198089 chr22:31602240-31602240;C/T missense_variant False SFI1@p.R1010Q 1 0.263157895 ENSG00000198089 chr22:31614821-31614821;G/A missense_variant False SFI1@p.R287Q 1 0.129411765 ENSG00000198089 chr22:31573152-31573152;G/A missense_variant False SFI1@p.R312Q 1 0.25 ENSG00000198089 chr22:31575243-31575243;G/A missense_variant False SFI1@p.S110C 1 0.235294118 ENSG00000198089 chr22:31531120-31531120;C/G missense_variant False SFI1@p.T859M 1 0.272727273 ENSG00000198089 chr22:31613364-31613364;C/T missense_variant False SFMBT1@p.R135Q 1 0.185185185 ENSG00000163935 chr3:52934862-52934862;C/T missense_variant False SFMBT2@p.F888L 1 0.235294118 ENSG00000198879 chr10:7163791-7163791;G/C missense_variant False SFMBT2@p.I147M 1 0.163841808 ENSG00000198879 chr10:7285950-7285950;G/C missense_variant False SFMBT2@p.K373E 1 0.256756757 ENSG00000198879 chr10:7243561-7243561;T/C missense_variant False SFMBT2@p.P529S 1 0.376470588 ENSG00000198879 chr10:7197661-7197661;G/A missense_variant False SFMBT2@p.R241Q 1 0.452631579 ENSG00000198879 chr10:7283954-7283954;C/T missense_variant False SFMBT2@p.R690W 1 0.255813953 ENSG00000198879 chr10:7172578-7172578;T/A missense_variant False SFN@p.E31D 1 0.089552239 ENSG00000175793 chr1:26863305-26863305;G/C missense_variant False SFPQ@p.I308M 1 0.106666667 ENSG00000116560 chr1:35191434-35191434;G/C missense_variant False SFR1@p.S35L 1 0.317241379 ENSG00000156384 chr10:104123055-104123055;C/T missense_variant False SGCA@p.E123D 1 0.420168067 ENSG00000108823 chr17:50168003-50168003;G/T missense_variant False SGCE@p.N233K 1 0.127659574 ENSG00000127990 chr7:94618829-94618829;G/C missense_variant False SGSM3@p.K486N 1 0.321428571 ENSG00000100359 chr22:40407502-40407502;G/T missense_variant False SGO2@p.E854Q 1 0.251256281 ENSG00000163535 chr2:200572906-200572906;G/C missense_variant False SGPL1@p.F376L 1 0.295238095 ENSG00000166224 chr10:70873419-70873419;C/A missense_variant False SGPL1@p.D350N 1 0.069767442 ENSG00000166224 chr10:70871975-70871975;G/A missense_variant False SGO2@p.S204L 1 0.755555556 ENSG00000163535 chr2:200569800-200569800;C/T missense_variant False SGO2@p.R415I 1 0.375 ENSG00000163535 chr2:200571590-200571590;G/T missense_variant False SGO2@p.L592F 1 0.236842105 ENSG00000163535 chr2:200572122-200572122;G/C missense_variant False SGO2@p.L118F 1 0.069565217 ENSG00000163535 chr2:200536109-200536109;G/C missense_variant False SGO2@p.E392Q 1 0.140350877 ENSG00000163535 chr2:200571520-200571520;G/C missense_variant False SGO1@p.K387E 1 0.04109589 ENSG00000129810 chr3:20174372-20174372;T/C missense_variant False SGO2@p.E392K 1 0.09375 ENSG00000163535 chr2:200571520-200571520;G/A missense_variant False SGO2@p.E310Q 1 0.333333333 ENSG00000163535 chr2:200571274-200571274;G/C missense_variant False SGO2@p.D892N 1 0.175925926 ENSG00000163535 chr2:200573020-200573020;G/A missense_variant False SGO2@p.D779Y 1 0.397058824 ENSG00000163535 chr2:200572681-200572681;G/T missense_variant False SGO1@p.R358T 1 0.09929078 ENSG00000129810 chr3:20174458-20174458;C/G missense_variant False SGO1@p.R285T 1 0.487804878 ENSG00000129810 chr3:20174677-20174677;C/G missense_variant False SGPL1@p.I386M 1 0.406666667 ENSG00000166224 chr10:70873449-70873449;C/G missense_variant False SGPL1@p.L453V 1 0.267605634 ENSG00000166224 chr10:70875460-70875460;C/G missense_variant False SGPP1@p.L120V 1 0.371134021 ENSG00000126821 chr14:63727587-63727587;G/C missense_variant False SGPP1@p.S306C 1 0.264705882 ENSG00000126821 chr14:63686514-63686514;G/C missense_variant False SGPP2@p.I103M 1 0.205128205 ENSG00000163082 chr2:222474657-222474657;C/G missense_variant False SGPP2@p.P148S 1 0.25 ENSG00000163082 chr2:222521830-222521830;C/T missense_variant False SGPP2@p.Q298Sfs*24 1 0.133333333 ENSG00000163082 chr2:222558589-222558589;C/- frameshift_variant False SGPP2@p.W125C 1 0.256756757 ENSG00000163082 chr2:222474723-222474723;G/T missense_variant False SGSM1@p.E974Q 1 0.214285714 ENSG00000167037 chr22:24905124-24905124;G/C missense_variant False SGSM2@p.D66H 1 0.1875 ENSG00000141258 chr17:2361699-2361699;G/C missense_variant False SGSM2@p.D724N 1 0.224489796 ENSG00000141258 chr17:2375696-2375696;G/A missense_variant False SGSM2@p.D798N 1 0.168224299 ENSG00000141258 chr17:2376179-2376179;G/A missense_variant False SGSM2@p.P165T 1 0.31147541 ENSG00000141258 chr17:2362872-2362872;C/A missense_variant False SGSM2@p.S173C 1 0.896551724 ENSG00000141258 chr17:2362897-2362897;C/G missense_variant False SGSM2@p.W610L 1 0.236842105 ENSG00000141258 chr17:2373377-2373377;G/T missense_variant False SGSM3@p.D748Y 1 0.278688525 ENSG00000100359 chr22:40409751-40409751;G/T missense_variant False SGSM3@p.E33Q 1 0.166666667 ENSG00000100359 chr22:40402145-40402145;G/C missense_variant False SGO1@p.L560F 1 0.524822695 ENSG00000129810 chr3:20161111-20161111;C/G missense_variant False SGO1@p.E77Q 1 0.113821138 ENSG00000129810 chr3:20183718-20183718;C/G missense_variant False SGCZ@p.D170H 1 0.372093023 ENSG00000185053 chr8:14164619-14164619;C/G missense_variant False SGIP1@p.L267I 1 0.337748344 ENSG00000118473 chr1:66679737-66679737;T/A missense_variant False SGK2@p.E202K 1 0.21875 ENSG00000101049 chr20:43570680-43570680;G/A missense_variant False SGK1@p.R192_E196del 1 0.487804878 ENSG00000118515 chr6:134172735-134172749;GTTCCAGGAAGCAGC/- inframe_deletion False SGK1@p.P225Q 1 0.20754717 ENSG00000118515 chr6:134172305-134172305;G/T missense_variant False SGK1@p.E84Q 1 0.195121951 ENSG00000118515 chr6:134261968-134261968;C/G missense_variant False SGIP1@p.S770Y 1 0.4375 ENSG00000118473 chr1:66741281-66741281;C/A missense_variant False SGIP1@p.R408S 1 0.130232558 ENSG00000118473 chr1:66682278-66682278;A/T missense_variant False SGIP1@p.I497T 1 0.071428571 ENSG00000118473 chr1:66690236-66690236;T/C missense_variant False SGO1@p.E418Q 1 0.166666667 ENSG00000129810 chr3:20174279-20174279;C/G missense_variant False SGIP1@p.G270R 1 0.326086957 ENSG00000118473 chr1:66679746-66679746;G/C missense_variant False SGIP1@p.E748K 1 0.130434783 ENSG00000118473 chr1:66740665-66740665;G/A missense_variant False SGIP1@p.E661K 1 0.252631579 ENSG00000118473 chr1:66733830-66733830;G/A missense_variant False SGF29@p.E198Q 1 0.357758621 ENSG00000176476 chr16:28590656-28590656;G/C missense_variant False SGCZ@p.R221H 1 0.3 ENSG00000185053 chr8:14102458-14102458;C/T missense_variant False SGCZ@p.E177K 1 0.298245614 ENSG00000185053 chr8:14164598-14164598;C/T missense_variant False SGK2@p.G208R 1 0.192982456 ENSG00000101049 chr20:43570698-43570698;G/C missense_variant False SGK2@p.H362Q 1 0.610169492 ENSG00000101049 chr20:43580028-43580028;C/G missense_variant False SGK2@p.P69Qfs*55 1 0.12195122 ENSG00000101049 chr20:43566518-43566518;C/- frameshift_variant False SGK2@p.R336Q 1 0.37 ENSG00000101049 chr20:43576357-43576357;G/A missense_variant False SGK2@p.S85L 1 0.179487179 ENSG00000101049 chr20:43567105-43567105;C/T missense_variant False SGK3@p.G169E 1 0.271493213 ENSG00000288602 chr8:66831292-66831292;G/A missense_variant False SGK3@p.I197* 1 0.245901639 ENSG00000288602 chr8:66835819-66835819;G/- frameshift_variant False SGK3@p.V113F 1 0.409090909 ENSG00000288602 chr8:66822379-66822379;G/T missense_variant False SGK3@p.Y460C 1 0.323863636 ENSG00000288602 chr8:66859469-66859469;A/G missense_variant False SGMS1@p.D14N 1 0.267605634 ENSG00000198964 chr10:50344075-50344075;C/T missense_variant False SGMS1@p.K2N 1 0.148148148 ENSG00000198964 chr10:50344109-50344109;C/G missense_variant False SGMS1@p.M362I 1 0.26 ENSG00000198964 chr10:50307298-50307298;C/T missense_variant False SGMS2@p.E34Q 1 0.523809524 ENSG00000164023 chr4:107895653-107895653;G/C missense_variant False SGMS2@p.I137V 1 0.373134328 ENSG00000164023 chr4:107895962-107895962;A/G missense_variant False SGMS2@p.S334F 1 0.446808511 ENSG00000164023 chr4:107910456-107910456;C/T missense_variant False SGO1@p.E147K 1 0.19047619 ENSG00000129810 chr3:20176637-20176637;C/T missense_variant False SGO1@p.E363K 1 0.624454148 ENSG00000129810 chr3:20174444-20174444;C/T missense_variant False SERPINA4@p.G134R 1 0.253968254 ENSG00000100665 chr14:94563882-94563882;G/A missense_variant False SERPINA4@p.E288D 1 0.363636364 ENSG00000100665 chr14:94567184-94567184;G/C missense_variant False SERPINA3@p.R41Q 1 0.086956522 ENSG00000196136 chr14:94614563-94614563;G/A missense_variant False SEC24A@p.D954N 1 0.145454545 ENSG00000113615 chr5:134715156-134715156;G/A missense_variant False SEC24B@p.E785Q 1 0.280701754 ENSG00000138802 chr4:109521471-109521471;G/C missense_variant False SEC24B@p.E1181Q 1 0.244186047 ENSG00000138802 chr4:109533638-109533638;G/C missense_variant False SEC24A@p.S874C 1 0.413043478 ENSG00000113615 chr5:134708782-134708782;C/G missense_variant False SEC24A@p.S681C 1 0.111111111 ENSG00000113615 chr5:134697181-134697181;C/G missense_variant False SEC24A@p.S26L 1 0.444444444 ENSG00000113615 chr5:134649153-134649153;C/T missense_variant False SEC24A@p.P209L 1 0.183908046 ENSG00000113615 chr5:134666883-134666883;C/T missense_variant False SEC24A@p.A398T 1 0.161764706 ENSG00000113615 chr5:134676063-134676063;G/A missense_variant False SEC24B@p.P439S 1 0.265957447 ENSG00000138802 chr4:109494683-109494683;C/T missense_variant False SEC23IP@p.Y762F 1 0.441558442 ENSG00000107651 chr10:119926199-119926199;A/T missense_variant False SEC23IP@p.S49F 1 0.378378378 ENSG00000107651 chr10:119892928-119892928;C/T missense_variant False SEC23IP@p.S46C 1 0.84 ENSG00000107651 chr10:119892919-119892919;C/G missense_variant False SEC23IP@p.S18L 1 0.228571429 ENSG00000107651 chr10:119892835-119892835;C/T missense_variant False SEC23IP@p.R947Q 1 0.46835443 ENSG00000107651 chr10:119933086-119933086;G/A missense_variant False SEC23IP@p.Q85R 1 0.4609375 ENSG00000107651 chr10:119898517-119898517;A/G missense_variant False SEC24B@p.L696F 1 0.538461538 ENSG00000138802 chr4:109516602-109516602;G/C missense_variant False SEC24B@p.R606G 1 0.157894737 ENSG00000138802 chr4:109511996-109511996;C/G missense_variant False SELENBP1@p.D469E 1 0.123287671 ENSG00000143416 chr1:151364555-151364555;G/T missense_variant False SEC24C@p.V747Lfs*6 1 0.245283019 ENSG00000176986 chr10:73768865-73768865;T/- frameshift_variant False SEC31A@p.G191D 1 0.357142857 ENSG00000138674 chr4:82874678-82874678;C/T missense_variant False SEC31A@p.A928S 1 0.285714286 ENSG00000138674 chr4:82842326-82842326;C/A missense_variant False SEC24D@p.S421Y 1 0.458715596 ENSG00000150961 chr4:118764836-118764836;G/T missense_variant False SEC24D@p.S345L 1 0.263157895 ENSG00000150961 chr4:118797690-118797690;G/A missense_variant False SEC24D@p.P229L 1 0.132075472 ENSG00000150961 chr4:118815143-118815143;G/A missense_variant False SEC24D@p.E781K 1 0.222222222 ENSG00000150961 chr4:118739185-118739185;C/T missense_variant False SEC24C@p.R840Q 1 0.540540541 ENSG00000176986 chr10:73769441-73769441;G/A missense_variant False SEC24B@p.S1254F 1 0.166666667 ENSG00000138802 chr4:109539629-109539629;C/T missense_variant False SEC24C@p.R320H 1 0.192307692 ENSG00000176986 chr10:73760821-73760821;G/A missense_variant False SEC24C@p.L806V 1 0.2 ENSG00000176986 chr10:73769144-73769144;C/G missense_variant False SEC24C@p.K794Rfs*28 1 0.272727273 ENSG00000176986 chr10:73769108-73769132;AAGCATGACGATCGGCTCAATGAAG/- frameshift_variant False SEC24C@p.D837N 1 0.263157895 ENSG00000176986 chr10:73769431-73769431;G/A missense_variant False SEC24B@p.T722A 1 0.126760563 ENSG00000138802 chr4:109520403-109520403;A/G missense_variant False SEC24B@p.S255L 1 0.847826087 ENSG00000138802 chr4:109463531-109463531;C/T missense_variant False SEC23IP@p.Q85E 1 0.107784431 ENSG00000107651 chr10:119898516-119898516;C/G missense_variant False SEC23IP@p.Q442E 1 0.206896552 ENSG00000107651 chr10:119914741-119914741;C/G missense_variant False SEC23IP@p.M567I 1 0.11 ENSG00000107651 chr10:119917992-119917992;G/C missense_variant False SEC16B@p.A386T 1 0.074380165 ENSG00000120341 chr1:177958341-177958341;C/T missense_variant False SEC16B@p.S39C 1 0.118556701 ENSG00000120341 chr1:177967866-177967866;G/C missense_variant False SEC16B@p.S1012Y 1 0.189189189 ENSG00000120341 chr1:177930621-177930621;G/T missense_variant False SEC16B@p.R63M 1 0.433333333 ENSG00000120341 chr1:177967794-177967794;C/A missense_variant False SEC16B@p.L806V 1 0.322580645 ENSG00000120341 chr1:177937301-177937301;G/C missense_variant False SEC16B@p.H720Y 1 0.5 ENSG00000120341 chr1:177939747-177939747;G/A missense_variant False SEC16B@p.E651K 1 0.125 ENSG00000120341 chr1:177941971-177941971;C/T missense_variant False SEC16A@p.W2140C 1 0.555555556 ENSG00000148396 chr9:136447880-136447880;C/G missense_variant False SEC23IP@p.H212Y 1 0.103448276 ENSG00000107651 chr10:119898897-119898897;C/T missense_variant False SEC16A@p.S2062L 1 1.0 ENSG00000148396 chr9:136451383-136451383;G/A missense_variant False SEC16A@p.S1441F 1 0.262295082 ENSG00000148396 chr9:136464544-136464544;G/A missense_variant False SEC16A@p.R328W 1 0.484848485 ENSG00000148396 chr9:136476634-136476634;G/A missense_variant False SEC16A@p.Q1118K 1 0.618181818 ENSG00000148396 chr9:136474264-136474264;G/T missense_variant False SEC16A@p.N1007D 1 0.4375 ENSG00000148396 chr9:136474597-136474597;T/C missense_variant False SEC16A@p.L1467V 1 0.367346939 ENSG00000148396 chr9:136464467-136464467;G/C missense_variant False SEC16B@p.Y783C 1 0.730769231 ENSG00000120341 chr1:177937369-177937369;T/C missense_variant False SEC22A@p.Q46E 1 0.445783133 ENSG00000121542 chr3:123209353-123209353;C/G missense_variant False SEC22A@p.R50K 1 0.225 ENSG00000121542 chr3:123209366-123209366;G/A missense_variant False SEC22B@p.G13R 1 0.258064516 ENSG00000265808 chr1:120176345-120176345;C/T missense_variant False SEC22C@p.I73M 1 0.5 ENSG00000093183 chr3:42563650-42563650;G/C missense_variant False SEC22C@p.K38N 1 0.1 ENSG00000093183 chr3:42568933-42568933;C/G missense_variant False SEC23A@p.A478T 1 0.333333333 ENSG00000100934 chr14:39061838-39061838;C/T missense_variant False SEC23A@p.C432Y 1 0.317073171 ENSG00000100934 chr14:39064926-39064926;C/T missense_variant False SEC23A@p.D319E 1 0.2 ENSG00000100934 chr14:39075965-39075965;G/C missense_variant False SEC23A@p.D50N 1 0.11827957 ENSG00000100934 chr14:39095971-39095971;C/T missense_variant False SEC23A@p.S738C 1 0.378640777 ENSG00000100934 chr14:39033324-39033324;G/C missense_variant False SEC23B@p.E711K 1 0.529761905 ENSG00000101310 chr20:18554373-18554373;G/A missense_variant False SEC23B@p.Q356E 1 0.195067265 ENSG00000101310 chr20:18527568-18527568;C/G missense_variant False SEC23B@p.V465I 1 0.1875 ENSG00000101310 chr20:18535731-18535731;G/A missense_variant False SEC23IP@p.D416N 1 0.392857143 ENSG00000107651 chr10:119912098-119912098;G/A missense_variant False SEC23IP@p.E807K 1 0.424242424 ENSG00000107651 chr10:119929712-119929712;G/A missense_variant False SEC23IP@p.F291L 1 0.166666667 ENSG00000107651 chr10:119902975-119902975;C/G missense_variant False SEC31A@p.I205M 1 0.186440678 ENSG00000138674 chr4:82874635-82874635;G/C missense_variant False SEC31A@p.I779M 1 0.107142857 ENSG00000138674 chr4:82848969-82848969;G/C missense_variant False SEC31A@p.M57I 1 0.045698925 ENSG00000138674 chr4:82880831-82880831;C/T missense_variant False SEL1L2@p.I372M 1 0.220472441 ENSG00000101251 chr20:13870192-13870192;G/C missense_variant False SEL1L3@p.A409T 1 0.4 ENSG00000091490 chr4:25822061-25822061;C/T missense_variant False MIB1@p.D782N 1 0.253164557 ENSG00000101752 chr18:21847076-21847076;G/A missense_variant False SEL1L2@p.Q620K 1 0.101851852 ENSG00000101251 chr20:13850280-13850280;G/T missense_variant False SEL1L2@p.Q298H 1 0.15 ENSG00000101251 chr20:13886294-13886294;C/G missense_variant False SEL1L2@p.N93K 1 0.15 ENSG00000101251 chr20:13931607-13931607;A/T missense_variant False SEL1L2@p.I77R 1 0.260869565 ENSG00000101251 chr20:13931656-13931656;A/C missense_variant False SEL1L2@p.H375Y 1 0.354166667 ENSG00000101251 chr20:13870185-13870185;G/A missense_variant False SECISBP2L@p.D420N 1 0.418181818 ENSG00000138593 chr15:49017009-49017009;C/T missense_variant False SEL1L2@p.G304A 1 0.438095238 ENSG00000101251 chr20:13885393-13885393;C/G missense_variant False SEH1L@p.D136G 1 0.066666667 ENSG00000085415 chr18:12963257-12963257;A/G missense_variant False SECTM1@p.E40Q 1 0.955555556 ENSG00000141574 chr17:82324867-82324867;C/G missense_variant False SECISBP2L@p.R247K 1 0.2 ENSG00000138593 chr15:49028607-49028607;C/T missense_variant False SECISBP2L@p.R164Q 1 0.456521739 ENSG00000138593 chr15:49035371-49035371;C/T missense_variant False SECISBP2L@p.Q261H 1 0.26446281 ENSG00000138593 chr15:49028564-49028564;C/G missense_variant False SEL1L3@p.E315K 1 0.073170732 ENSG00000091490 chr4:25833487-25833487;C/T missense_variant False SEL1L3@p.E715Q 1 0.146788991 ENSG00000091490 chr4:25788298-25788298;C/G missense_variant False SEL1L3@p.H139Y 1 0.12 ENSG00000091490 chr4:25847612-25847612;G/A missense_variant False SEL1L3@p.K536N 1 0.1 ENSG00000091490 chr4:25804709-25804709;C/G missense_variant False SEL1L3@p.R233W 1 0.34 ENSG00000091490 chr4:25847330-25847330;G/A missense_variant False SEL1L3@p.S1016C 1 0.453608247 ENSG00000091490 chr4:25758977-25758977;G/C missense_variant False SEL1L3@p.S256C 1 0.203125 ENSG00000091490 chr4:25835290-25835290;G/C missense_variant False SEL1L3@p.Y800H 1 0.306666667 ENSG00000091490 chr4:25782301-25782301;A/G missense_variant False SEL1L@p.D700Y 1 0.095890411 ENSG00000071537 chr14:81479689-81479689;C/A missense_variant False SEL1L@p.D734N 1 0.235294118 ENSG00000071537 chr14:81477157-81477157;C/T missense_variant False SEL1L@p.E675Q 1 0.20610687 ENSG00000071537 chr14:81484248-81484248;C/G missense_variant False SEL1L@p.E742Q 1 0.240963855 ENSG00000071537 chr14:81477133-81477133;C/G missense_variant False SEL1L@p.E75Q 1 0.043859649 ENSG00000071537 chr14:81526850-81526850;C/G missense_variant False SEL1L@p.G640W 1 0.098522167 ENSG00000071537 chr14:81484353-81484353;C/A missense_variant False SEL1L@p.L132I 1 0.425 ENSG00000071537 chr14:81506188-81506188;G/T missense_variant False SELE@p.A281V 1 0.372727273 ENSG00000007908 chr1:169729547-169729547;G/A missense_variant False SELE@p.F339L 1 0.258064516 ENSG00000007908 chr1:169729259-169729259;G/C missense_variant False SECISBP2L@p.E905K 1 0.21641791 ENSG00000138593 chr15:48992837-48992837;C/T missense_variant False SECISBP2L@p.D38N 1 0.128205128 ENSG00000138593 chr15:49037682-49037682;C/T missense_variant False SEC31A@p.M595V 1 0.275862069 ENSG00000138674 chr4:82857050-82857050;T/C missense_variant False SEC31B@p.L441S 1 0.299065421 ENSG00000075826 chr10:100502342-100502342;A/G missense_variant False SEC61A1@p.V85Lfs*7 1 0.18627451 ENSG00000058262 chr3:128056736-128056737;-/TA frameshift_variant False SEC61A1@p.T124N 1 0.531914894 ENSG00000058262 chr3:128060120-128060120;C/A missense_variant False SEC61A1@p.E381Q 1 0.280487805 ENSG00000058262 chr3:128067586-128067586;G/C missense_variant False SEC61A1@p.D357N 1 0.090909091 ENSG00000058262 chr3:128067514-128067514;G/A missense_variant False SEC31B@p.Y686C 1 0.233766234 ENSG00000075826 chr10:100497214-100497214;T/C missense_variant False SEC31B@p.M1024I 1 0.375 ENSG00000075826 chr10:100489351-100489351;C/T missense_variant False SEC31B@p.L359V 1 0.101265823 ENSG00000075826 chr10:100505465-100505465;G/C missense_variant False SECISBP2@p.S93F 1 0.1171875 ENSG00000187742 chr9:89325522-89325522;C/T missense_variant False SEC31B@p.H188D 1 0.470588235 ENSG00000075826 chr10:100507985-100507985;G/C missense_variant False SEC31B@p.G730S 1 0.261538462 ENSG00000075826 chr10:100496380-100496380;C/T missense_variant False SEC31B@p.D308H 1 0.104347826 ENSG00000075826 chr10:100506162-100506162;C/G missense_variant False SEC31B@p.D128H 1 0.091836735 ENSG00000075826 chr10:100509333-100509333;C/G missense_variant False SEC31A@p.S186L 1 0.405405405 ENSG00000138674 chr4:82874693-82874693;G/A missense_variant False SEC31A@p.Q735E 1 0.315789474 ENSG00000138674 chr4:82851556-82851556;G/C missense_variant False SEC61A2@p.E381K 1 0.06122449 ENSG00000065665 chr10:12161095-12161095;G/A missense_variant False SEC61A2@p.F316Y 1 0.12037037 ENSG00000065665 chr10:12158077-12158077;T/A missense_variant False SEC61A2@p.F40L 1 0.175824176 ENSG00000065665 chr10:12136149-12136149;C/A missense_variant False SEC61A2@p.L160F 1 0.047619048 ENSG00000065665 chr10:12155795-12155795;G/C missense_variant False SEC61A2@p.S287F 1 0.625 ENSG00000065665 chr10:12157990-12157990;C/T missense_variant False SEC62@p.D351N 1 0.264705882 ENSG00000008952 chr3:169992914-169992914;G/A missense_variant False SEC62@p.S50L 1 0.387096774 ENSG00000008952 chr3:169976949-169976949;C/T missense_variant False SEC63@p.A656T 1 0.483146067 ENSG00000025796 chr6:107876632-107876632;C/T missense_variant False SEC63@p.D38N 1 0.40625 ENSG00000025796 chr6:107957898-107957898;C/T missense_variant False SEC63@p.D591Y 1 0.22972973 ENSG00000025796 chr6:107883050-107883050;C/A missense_variant False SEC63@p.S488C 1 0.512195122 ENSG00000025796 chr6:107893875-107893875;G/C missense_variant False SEC63@p.T635K 1 0.376470588 ENSG00000025796 chr6:107881180-107881180;G/T missense_variant False SECISBP2@p.C41Y 1 0.439189189 ENSG00000187742 chr9:89319737-89319737;G/A missense_variant False SECISBP2@p.D563H 1 0.145454545 ENSG00000187742 chr9:89348163-89348163;G/C missense_variant False SECISBP2@p.E130D 1 0.369230769 ENSG00000187742 chr9:89325634-89325634;G/C missense_variant False SECISBP2@p.R731H 1 0.240310078 ENSG00000187742 chr9:89357489-89357489;G/A missense_variant False SECISBP2@p.S46F 1 0.344 ENSG00000187742 chr9:89319752-89319752;C/T missense_variant False SEC16A@p.H1449Y 1 0.225806452 ENSG00000148396 chr9:136464521-136464521;G/A missense_variant False SEC16A@p.E612K 1 0.5 ENSG00000148396 chr9:136475782-136475782;C/T missense_variant False SEC16A@p.E1867K 1 0.253521127 ENSG00000148396 chr9:136456118-136456118;C/T missense_variant False SDC1@p.D35N 1 0.298969072 ENSG00000115884 chr2:20205388-20205388;C/T missense_variant False SDC3@p.T187I 1 0.555555556 ENSG00000162512 chr1:30876862-30876862;G/A missense_variant False SDC3@p.R410H 1 0.164705882 ENSG00000162512 chr1:30873311-30873311;C/T missense_variant False SDC2@p.Y131C 1 0.236363636 ENSG00000169439 chr8:96608420-96608420;A/G missense_variant False SDC2@p.M121T 1 0.092592593 ENSG00000169439 chr8:96608390-96608390;T/C missense_variant False SDC2@p.I161V 1 0.422535211 ENSG00000169439 chr8:96609423-96609423;A/G missense_variant False SDC1@p.E103K 1 0.046979866 ENSG00000115884 chr2:20204133-20204133;C/T missense_variant False SDAD1@p.I395M 1 0.173553719 ENSG00000198301 chr4:75961305-75961305;G/C missense_variant False SCYL3@p.E731K 1 0.077363897 ENSG00000000457 chr1:169853751-169853751;C/T missense_variant False SDAD1@p.E504K 1 0.241982507 ENSG00000198301 chr4:75957915-75957915;C/T missense_variant False SDAD1@p.A479G 1 0.180327869 ENSG00000198301 chr4:75960113-75960113;G/C missense_variant False SCYL3@p.S496Y 1 0.475 ENSG00000000457 chr1:169854952-169854952;G/T missense_variant False SCYL3@p.R61C 1 0.735632184 ENSG00000000457 chr1:169878804-169878804;G/A missense_variant False SCYL3@p.R14T 1 0.130952381 ENSG00000000457 chr1:169888800-169888800;C/G missense_variant False SCYL3@p.L406V 1 0.577181208 ENSG00000000457 chr1:169859137-169859137;G/C missense_variant False SDC4@p.L85V 1 0.296296296 ENSG00000124145 chr20:45330558-45330558;G/C missense_variant False SDCBP2@p.E115K 1 0.366666667 ENSG00000125775 chr20:1313381-1313381;C/T missense_variant False SDCBP2@p.K246R 1 0.290322581 ENSG00000125775 chr20:1310887-1310887;T/C missense_variant False SDCBP@p.L232V 1 0.056818182 ENSG00000137575 chr8:58579738-58579738;C/G missense_variant False SDCBP@p.L233F 1 0.102803738 ENSG00000137575 chr8:58579741-58579741;C/T missense_variant False SDCBP@p.M92T 1 0.110169492 ENSG00000137575 chr8:58575934-58575934;T/C missense_variant False SDCBP@p.R197Q 1 0.106666667 ENSG00000137575 chr8:58579634-58579634;G/A missense_variant False SDCCAG8@p.A318V 1 0.358024691 ENSG00000054282 chr1:243316778-243316778;C/T missense_variant False SDCCAG8@p.D633N 1 0.326086957 ENSG00000054282 chr1:243426470-243426470;G/A missense_variant False SDCCAG8@p.E11Q 1 0.136054422 ENSG00000054282 chr1:243256204-243256204;G/C missense_variant False SDCCAG8@p.L243F 1 0.3 ENSG00000054282 chr1:243304766-243304766;G/C missense_variant False SDCCAG8@p.R19W 1 0.511627907 ENSG00000054282 chr1:243256228-243256228;C/T missense_variant False SDCCAG8@p.R641T 1 0.482142857 ENSG00000054282 chr1:243426495-243426495;G/C missense_variant False SDE2@p.E303K 1 0.321428571 ENSG00000143751 chr1:225988123-225988123;C/T missense_variant False SDE2@p.M175I 1 0.426229508 ENSG00000143751 chr1:225991359-225991359;C/A missense_variant False SDE2@p.Q91H 1 0.285714286 ENSG00000143751 chr1:225992968-225992968;C/G missense_variant False SDE2@p.V271I 1 0.134020619 ENSG00000143751 chr1:225988219-225988219;C/T missense_variant False SCYL3@p.L256F 1 0.156862745 ENSG00000000457 chr1:169866943-169866943;C/G missense_variant False SCYL3@p.E177Q 1 0.260416667 ENSG00000000457 chr1:169870351-169870351;C/G missense_variant False SDF2@p.G193S 1 0.205128205 ENSG00000132581 chr17:28649048-28649048;C/T missense_variant False SCUBE1@p.R264Q 1 0.257142857 ENSG00000159307 chr22:43238891-43238891;C/T missense_variant False SCUBE2@p.E93Q 1 0.452830189 ENSG00000175356 chr11:9079489-9079489;C/G missense_variant False SCUBE2@p.E535K 1 0.058823529 ENSG00000175356 chr11:9050642-9050642;C/T missense_variant False SCUBE2@p.D823N 1 0.125 ENSG00000175356 chr11:9029920-9029920;C/T missense_variant False SCUBE2@p.D47H 1 0.198529412 ENSG00000175356 chr11:9089824-9089824;C/G missense_variant False SCUBE1@p.V32F 1 0.466666667 ENSG00000159307 chr22:43339230-43339230;C/A missense_variant False SCUBE1@p.T413I 1 0.068627451 ENSG00000159307 chr22:43223186-43223186;G/A missense_variant False SCUBE1@p.P181L 1 0.470588235 ENSG00000159307 chr22:43262788-43262788;G/A missense_variant False SCYL3@p.D76V 1 0.209125475 ENSG00000000457 chr1:169878758-169878758;T/A missense_variant False SCUBE1@p.G799D 1 0.352941176 ENSG00000159307 chr22:43210228-43210228;C/T missense_variant False SCUBE1@p.D294N 1 0.181818182 ENSG00000159307 chr22:43231840-43231840;C/T missense_variant False SCUBE1@p.D188H 1 0.144067797 ENSG00000159307 chr22:43262768-43262768;C/G missense_variant False SCTR@p.S202L 1 0.2 ENSG00000080293 chr2:119464154-119464154;G/A missense_variant False SCTR@p.E410K 1 0.262295082 ENSG00000080293 chr2:119440212-119440212;C/T missense_variant False SCTR@p.E373Q 1 0.244444444 ENSG00000080293 chr2:119446782-119446782;C/G missense_variant False SCUBE2@p.G234V 1 0.633333333 ENSG00000175356 chr11:9066756-9066756;C/A missense_variant False SCUBE2@p.H182N 1 0.520661157 ENSG00000175356 chr11:9069469-9069469;G/T missense_variant False SCUBE2@p.I983M 1 0.136363636 ENSG00000175356 chr11:9021183-9021183;G/C missense_variant False SCUBE2@p.S635L 1 0.385964912 ENSG00000175356 chr11:9047454-9047454;G/A missense_variant False SCUBE3@p.F977L 1 0.133333333 ENSG00000146197 chr6:35248654-35248654;C/A missense_variant False SCUBE3@p.P680A 1 0.282608696 ENSG00000146197 chr6:35243722-35243722;C/G missense_variant False SCUBE3@p.Q125H 1 0.375 ENSG00000146197 chr6:35231765-35231765;G/C missense_variant False SCUBE3@p.R840C 1 0.194444444 ENSG00000146197 chr6:35245344-35245344;C/T missense_variant False SCUBE3@p.S853Y 1 0.242424242 ENSG00000146197 chr6:35245384-35245384;C/A missense_variant False SCX@p.P166S 1 0.24137931 ENSG00000260428 chr8:144267109-144267109;C/T missense_variant False SCYL1@p.M357I 1 0.31372549 ENSG00000142186 chr11:65531638-65531638;G/A missense_variant False SCYL2@p.D319N 1 0.509433962 ENSG00000136021 chr12:100313524-100313524;G/A missense_variant False SCYL2@p.E31Q 1 0.090909091 ENSG00000136021 chr12:100283061-100283061;G/C missense_variant False SCYL2@p.R505C 1 0.44 ENSG00000136021 chr12:100326625-100326625;C/T missense_variant False SCYL2@p.S874C 1 0.241666667 ENSG00000136021 chr12:100339003-100339003;C/G missense_variant False SCYL2@p.V735L 1 0.051470588 ENSG00000136021 chr12:100338585-100338585;G/C missense_variant False SCYL3@p.D483V 1 0.161764706 ENSG00000000457 chr1:169855822-169855822;T/A missense_variant False SDF2@p.E175Q 1 0.232142857 ENSG00000132581 chr17:28649102-28649102;C/G missense_variant False SDF2@p.L202F 1 0.257575758 ENSG00000132581 chr17:28649019-28649019;C/A missense_variant False SEC14L5@p.V156I 1 0.363636364 ENSG00000103184 chr16:4990887-4990887;G/A missense_variant False SEC11A@p.L4V 1 0.464285714 ENSG00000140612 chr15:84716066-84716066;G/C missense_variant False SEC14L1@p.E278K 1 0.253012048 ENSG00000129657 chr17:77200496-77200496;G/A missense_variant False SEC13@p.S76L 1 0.438848921 ENSG00000157020 chr3:10312668-10312668;G/A missense_variant False SEC13@p.E316Q 1 0.09039548 ENSG00000157020 chr3:10301284-10301284;C/G missense_variant False SEC11C@p.R90T 1 0.342391304 ENSG00000166562 chr18:59152607-59152607;G/C missense_variant False SEC11C@p.M163V 1 0.438016529 ENSG00000166562 chr18:59157627-59157627;A/G missense_variant False SEC11C@p.I61V 1 0.483870968 ENSG00000166562 chr18:59149606-59149606;A/G missense_variant False SDS@p.K41N 1 0.357142857 ENSG00000135094 chr12:113399586-113399586;C/A missense_variant False SDR16C5@p.E140K 1 0.281553398 ENSG00000170786 chr8:56312204-56312204;C/T missense_variant False SDS@p.E288K 1 0.37195122 ENSG00000135094 chr12:113393066-113393066;C/T missense_variant False SDR9C7@p.R12C 1 0.166666667 ENSG00000170426 chr12:56934228-56934228;G/A missense_variant False SDR9C7@p.Q63H 1 0.5 ENSG00000170426 chr12:56934073-56934073;C/A missense_variant False SDR9C7@p.G235A 1 0.595238095 ENSG00000170426 chr12:56929410-56929410;C/G missense_variant False SDR42E1@p.R179T 1 0.134020619 ENSG00000184860 chr16:81999757-81999757;C/G missense_variant False SDR42E1@p.I133M 1 0.117647059 ENSG00000184860 chr16:81999894-81999894;G/C missense_variant False SEC14L1@p.E380Q 1 0.26 ENSG00000129657 chr17:77205315-77205315;G/C missense_variant False SEC14L1@p.E513D 1 0.59375 ENSG00000129657 chr17:77209404-77209404;G/C missense_variant False SEC14L1@p.E96D 1 0.380733945 ENSG00000129657 chr17:77191255-77191255;G/T missense_variant False SEC14L1@p.L302F 1 0.627272727 ENSG00000129657 chr17:77200570-77200570;G/C missense_variant False SEC14L1@p.Q541K 1 0.492647059 ENSG00000129657 chr17:77211959-77211959;C/A missense_variant False SEC14L1@p.T124I 1 0.054545455 ENSG00000129657 chr17:77193446-77193446;C/T missense_variant False SEC14L1@p.V81F 1 0.101265823 ENSG00000129657 chr17:77191208-77191208;G/T missense_variant False SEC14L2@p.K393N 1 0.442857143 ENSG00000100003 chr22:30422374-30422374;G/T missense_variant False SEC14L3@p.D67V 1 0.64673913 ENSG00000100012 chr22:30470053-30470053;T/A missense_variant False SEC14L3@p.E211K 1 0.31981982 ENSG00000100012 chr22:30464853-30464853;C/T missense_variant False SEC14L3@p.R130H 1 0.390625 ENSG00000100012 chr22:30468542-30468542;C/T missense_variant False SEC14L4@p.A399V 1 0.242424242 ENSG00000133488 chr22:30490132-30490132;G/A missense_variant False SEC14L4@p.M333I 1 0.291666667 ENSG00000133488 chr22:30491655-30491655;C/T missense_variant False SEC14L4@p.P386T 1 0.25 ENSG00000133488 chr22:30490172-30490172;G/T missense_variant False SEC14L5@p.D279A 1 0.418604651 ENSG00000103184 chr16:4996910-4996910;A/C missense_variant False SEC14L5@p.D633N 1 0.461538462 ENSG00000103184 chr16:5011191-5011191;G/A missense_variant False SEC14L5@p.E119D 1 0.38 ENSG00000103184 chr16:4990778-4990778;G/T missense_variant False SDR42E1@p.D57H 1 0.084269663 ENSG00000184860 chr16:82000124-82000124;C/G missense_variant False SDR16C5@p.A29T 1 0.24 ENSG00000170786 chr8:56316263-56316263;C/T missense_variant False SDF4@p.D288N 1 0.307692308 ENSG00000078808 chr1:1218487-1218487;C/T missense_variant False SDHA@p.V402L 1 0.238636364 ENSG00000073578 chr5:235283-235283;G/C missense_variant False SDHAF4@p.E84Q 1 0.195121951 ENSG00000154079 chr6:70588647-70588647;G/C missense_variant False SDHAF3@p.M121I 1 0.209302326 ENSG00000196636 chr7:97181200-97181200;G/C missense_variant False SDHAF3@p.E87G 1 0.619047619 ENSG00000196636 chr7:97181097-97181097;A/G missense_variant False SDHAF3@p.D48E 1 0.320987654 ENSG00000196636 chr7:97117867-97117867;C/G missense_variant False SDHAF2@p.K147E 1 0.185840708 ENSG00000256591 chr11:61446009-61446009;A/G missense_variant False SDHAF2@p.E159Q 1 0.275641026 ENSG00000256591 chr11:61446045-61446045;G/C missense_variant False SDHA@p.R248T 1 0.330275229 ENSG00000073578 chr5:228306-228306;G/C missense_variant False SDK2@p.W1220R 1 0.512820513 ENSG00000069188 chr17:73394259-73394259;A/G missense_variant False SDHA@p.N113K 1 0.194029851 ENSG00000073578 chr5:225445-225445;C/A missense_variant False SDHA@p.M494I 1 0.235294118 ENSG00000073578 chr5:240407-240407;G/A missense_variant False SDHA@p.I661Ffs*21 1 0.45398773 ENSG00000073578 chr5:256404-256404;C/- frameshift_variant False SDHA@p.G68V 1 0.377952756 ENSG00000073578 chr5:224412-224412;G/T missense_variant False SDHA@p.G68C 1 0.377952756 ENSG00000073578 chr5:224411-224411;G/T missense_variant False SDHA@p.A149T 1 0.111940299 ENSG00000073578 chr5:225551-225551;G/A missense_variant False SDHB@p.M103I 1 0.342105263 ENSG00000117118 chr1:17028714-17028714;C/T missense_variant False SDHB@p.R251M 1 0.245614035 ENSG00000117118 chr1:17022621-17022621;C/A missense_variant False SDHC@p.P54T 1 0.609756098 ENSG00000143252 chr1:161328478-161328478;C/A missense_variant False SDHD@p.R27T 1 0.215053763 ENSG00000204370 chr11:112087884-112087884;G/C missense_variant False SDHD@p.S132L 1 0.5 ENSG00000204370 chr11:112094885-112094885;C/T missense_variant False SDK1@p.D1129N 1 0.285714286 ENSG00000146555 chr7:4110723-4110723;G/A missense_variant False SDK1@p.D1376N 1 0.487179487 ENSG00000146555 chr7:4130094-4130094;G/A missense_variant False SDK1@p.D582N 1 0.133333333 ENSG00000146555 chr7:3971495-3971495;G/A missense_variant False SDK1@p.E1124G 1 0.869565217 ENSG00000146555 chr7:4110709-4110709;A/G missense_variant False SDK1@p.E1534K 1 0.434782609 ENSG00000146555 chr7:4149438-4149438;G/A missense_variant False SDK1@p.E627D 1 0.185185185 ENSG00000146555 chr7:3974432-3974432;G/C missense_variant False SDK1@p.G1259W 1 0.5625 ENSG00000146555 chr7:4114226-4114226;G/T missense_variant False SDK1@p.Q1201E 1 0.3 ENSG00000146555 chr7:4114052-4114052;C/G missense_variant False SDK1@p.S397L 1 0.196428571 ENSG00000146555 chr7:3958970-3958970;C/T missense_variant False SDK1@p.T726K 1 0.210526316 ENSG00000146555 chr7:4011011-4011011;C/A missense_variant False SDK1@p.W420L 1 0.142857143 ENSG00000146555 chr7:3962681-3962681;G/T missense_variant False SDK2@p.E1368Q 1 0.379310345 ENSG00000069188 chr17:73390377-73390377;C/G missense_variant False SELE@p.G228E 1 0.231404959 ENSG00000007908 chr1:169730464-169730464;C/T missense_variant False SELENBP1@p.G182V 1 0.268041237 ENSG00000143416 chr1:151366841-151366841;C/A missense_variant False SERPINA3@p.R41P 1 0.396825397 ENSG00000196136 chr14:94614563-94614563;G/C missense_variant False SENP7@p.L378F 1 0.463414634 ENSG00000138468 chr3:101366614-101366614;C/G missense_variant False SEPHS1@p.E339K 1 0.218818381 ENSG00000086475 chr10:13319306-13319306;C/T missense_variant False SEPHS1@p.E331K 1 0.169014085 ENSG00000086475 chr10:13319330-13319330;C/T missense_variant False SENP8@p.E134D 1 0.139534884 ENSG00000166192 chr15:72140025-72140025;G/C missense_variant False SENP8@p.D145N 1 0.55 ENSG00000166192 chr15:72140056-72140056;G/A missense_variant False SENP7@p.T390A 1 0.352272727 ENSG00000138468 chr3:101366580-101366580;T/C missense_variant False SENP7@p.S910C 1 0.435897436 ENSG00000138468 chr3:101330356-101330356;G/C missense_variant False SENP7@p.K696Sfs*2 1 0.164835165 ENSG00000138468 chr3:101343705-101343705;T/- frameshift_variant False SEPSECS@p.A293V 1 0.322580645 ENSG00000109618 chr4:25145060-25145060;G/A missense_variant False SENP7@p.A122G 1 0.053435115 ENSG00000138468 chr3:101417710-101417710;G/C missense_variant False SENP6@p.S901C 1 0.361111111 ENSG00000112701 chr6:75703058-75703058;C/G missense_variant False SENP6@p.S247F 1 0.375 ENSG00000112701 chr6:75663264-75663264;C/T missense_variant False SENP6@p.E873Q 1 0.234449761 ENSG00000112701 chr6:75702973-75702973;G/C missense_variant False SENP6@p.E600K 1 0.339622642 ENSG00000112701 chr6:75677206-75677206;G/A missense_variant False SENP5@p.S655C 1 0.285714286 ENSG00000119231 chr3:196923493-196923493;C/G missense_variant False SEPHS2@p.R428C 1 0.12195122 ENSG00000179918 chr16:30444446-30444446;G/A missense_variant False SEPSECS@p.K308R 1 0.145454545 ENSG00000109618 chr4:25145015-25145015;T/C missense_variant False SELENBP1@p.H74D 1 0.286885246 ENSG00000143416 chr1:151369144-151369144;G/C missense_variant False SEPTIN11@p.M169I 1 0.138297872 ENSG00000138758 chr4:77011903-77011903;G/C missense_variant False SEPTIN14@p.E369K 1 0.243243243 ENSG00000154997 chr7:55805272-55805272;C/T missense_variant False SEPTIN14@p.E294V 1 0.436781609 ENSG00000154997 chr7:55807195-55807195;T/A missense_variant False SEPTIN12@p.I133M 1 0.122222222 ENSG00000140623 chr16:4784044-4784044;G/C missense_variant False SEPTIN12@p.D253N 1 0.081632653 ENSG00000140623 chr16:4779756-4779756;C/T missense_variant False SEPTIN11@p.R348K 1 0.085106383 ENSG00000138758 chr4:77028718-77028718;G/A missense_variant False SEPTIN11@p.Q38E 1 0.16091954 ENSG00000138758 chr4:76996509-76996509;C/G missense_variant False SEPTIN11@p.E265K 1 0.122807018 ENSG00000138758 chr4:77020510-77020510;G/A missense_variant False SEPSECS@p.S178F 1 0.123287671 ENSG00000109618 chr4:25156051-25156051;G/A missense_variant False SEPTIN11@p.D111N 1 0.25 ENSG00000138758 chr4:77005789-77005789;G/A missense_variant False SEPTIN10@p.R311Q 1 0.347826087 ENSG00000186522 chr2:109564462-109564462;C/T missense_variant False SEPTIN10@p.L186V 1 0.206521739 ENSG00000186522 chr2:109574625-109574625;G/C missense_variant False SEPTIN10@p.G78V 1 0.261904762 ENSG00000186522 chr2:109585306-109585306;C/A missense_variant False SEPTIN10@p.E267K 1 0.361290323 ENSG00000186522 chr2:109565823-109565823;C/T missense_variant False SEPTIN10@p.E151K 1 0.444444444 ENSG00000186522 chr2:109574730-109574730;C/T missense_variant False SENP5@p.R192I 1 0.453125 ENSG00000119231 chr3:196885756-196885756;G/T missense_variant False SENP5@p.M168I 1 0.224137931 ENSG00000119231 chr3:196885685-196885685;G/A missense_variant False SENP5@p.H373Y 1 0.166666667 ENSG00000119231 chr3:196886298-196886298;C/T missense_variant False SEMA6D@p.V464I 1 0.238095238 ENSG00000137872 chr15:47765019-47765019;G/A missense_variant False SEMG1@p.A383V 1 0.088888889 ENSG00000124233 chr20:45208445-45208445;C/T missense_variant False SEMG1@p.A241V 1 0.340740741 ENSG00000124233 chr20:45208019-45208019;C/T missense_variant False SEMA7A@p.S555F 1 0.205882353 ENSG00000138623 chr15:74410961-74410961;G/A missense_variant False SEMA7A@p.Q270H 1 0.175675676 ENSG00000138623 chr15:74415977-74415977;C/G missense_variant False SEMA7A@p.D250N 1 0.394736842 ENSG00000138623 chr15:74416628-74416628;C/T missense_variant False SEMA7A@p.A450T 1 0.451612903 ENSG00000138623 chr15:74411959-74411959;C/T missense_variant False SEMA6D@p.S703F 1 0.274336283 ENSG00000137872 chr15:47770671-47770671;C/T missense_variant False SENP5@p.E19Q 1 0.245098039 ENSG00000119231 chr3:196885236-196885236;G/C missense_variant False SEMA6D@p.S53L 1 0.140625 ENSG00000137872 chr15:47760352-47760352;C/T missense_variant False SEMA6D@p.S425L 1 0.258426966 ENSG00000137872 chr15:47764903-47764903;C/T missense_variant False SEMA6D@p.R209C 1 0.414814815 ENSG00000137872 chr15:47762286-47762286;C/T missense_variant False SEMA6D@p.Q298K 1 0.096774194 ENSG00000137872 chr15:47763994-47763994;C/A missense_variant False SEMA6D@p.P984Q 1 0.540229885 ENSG00000137872 chr15:47771514-47771514;C/A missense_variant False SEMA6D@p.P933L 1 0.284153005 ENSG00000137872 chr15:47771361-47771361;C/T missense_variant False SEMG1@p.K245R 1 0.154929577 ENSG00000124233 chr20:45208031-45208031;A/G missense_variant False SEMG1@p.L273I 1 0.396551724 ENSG00000124233 chr20:45208114-45208114;C/A missense_variant False SEMG1@p.N212D 1 0.080246914 ENSG00000124233 chr20:45207931-45207931;A/G missense_variant False SEMG1@p.T353M 1 0.465116279 ENSG00000124233 chr20:45208355-45208355;C/T missense_variant False SEMG2@p.D532N 1 0.494117647 ENSG00000124157 chr20:45223226-45223226;G/A missense_variant False SEMG2@p.E200Q 1 0.231884058 ENSG00000124157 chr20:45222230-45222230;G/C missense_variant False SEMG2@p.E499K 1 0.070588235 ENSG00000124157 chr20:45223127-45223127;G/A missense_variant False SEMG2@p.L201P 1 0.509090909 ENSG00000124157 chr20:45222234-45222234;T/C missense_variant False SEMG2@p.Q457E 1 0.404624277 ENSG00000124157 chr20:45223001-45223001;C/G missense_variant False SEMG2@p.Q486H 1 0.170454545 ENSG00000124157 chr20:45223090-45223090;G/C missense_variant False SENP1@p.E121K 1 0.266666667 ENSG00000079387 chr12:48088820-48088820;C/T missense_variant False SENP1@p.G13A 1 0.268292683 ENSG00000079387 chr12:48098091-48098091;C/G missense_variant False SENP1@p.R123Q 1 0.461538462 ENSG00000079387 chr12:48088813-48088813;C/T missense_variant False SENP2@p.Q259H 1 0.333333333 ENSG00000163904 chr3:185611705-185611705;A/C missense_variant False SENP3@p.P27S 1 0.8125 ENSG00000161956 chr17:7563155-7563155;C/T missense_variant False SENP3@p.R31H 1 0.631578947 ENSG00000161956 chr17:7563168-7563168;G/A missense_variant False SENP5@p.D408N 1 0.207142857 ENSG00000119231 chr3:196886403-196886403;G/A missense_variant False SEPTIN14@p.L91F 1 0.518518519 ENSG00000154997 chr7:55844623-55844623;G/A missense_variant False SEPTIN14@p.Q205R 1 0.194444444 ENSG00000154997 chr7:55834531-55834531;T/C missense_variant False SEPTIN14@p.R390M 1 0.379310345 ENSG00000154997 chr7:55796043-55796043;C/A missense_variant False SERINC3@p.Q57H 1 0.133802817 ENSG00000132824 chr20:44513909-44513909;C/G missense_variant False SERINC4@p.W207G 1 0.315789474 ENSG00000184716 chr15:43797933-43797933;A/C missense_variant False SERINC3@p.T279A 1 0.126984127 ENSG00000132824 chr20:44504840-44504840;T/C missense_variant False SERINC3@p.S331F 1 0.358208955 ENSG00000132824 chr20:44503878-44503878;G/A missense_variant False SERINC3@p.S267F 1 0.222222222 ENSG00000132824 chr20:44504875-44504875;G/A missense_variant False SERINC3@p.S148C 1 0.470588235 ENSG00000132824 chr20:44511321-44511321;G/C missense_variant False SERINC3@p.R305H 1 0.285714286 ENSG00000132824 chr20:44503956-44503956;C/T missense_variant False SERINC3@p.F117L 1 0.131782946 ENSG00000132824 chr20:44512845-44512845;G/C missense_variant False SERHL2@p.L208M 1 0.40625 ENSG00000183569 chr22:42566312-42566312;C/A missense_variant False SERINC3@p.E385K 1 0.216666667 ENSG00000132824 chr20:44501203-44501203;C/T missense_variant False SERINC3@p.D387H 1 0.433673469 ENSG00000132824 chr20:44501197-44501197;C/G missense_variant False SERINC3@p.D376N 1 0.149122807 ENSG00000132824 chr20:44501230-44501230;C/T missense_variant False SERINC3@p.D232H 1 0.206896552 ENSG00000132824 chr20:44506916-44506916;C/G missense_variant False SERINC2@p.V402I 1 0.175675676 ENSG00000168528 chr1:31433157-31433157;G/A missense_variant False SERINC1@p.S177L 1 0.74137931 ENSG00000111897 chr6:122453829-122453829;G/A missense_variant False SERINC5@p.Q147E 1 0.882352941 ENSG00000164300 chr5:80177333-80177333;G/C missense_variant False SERP1@p.C51G 1 0.291666667 ENSG00000120742 chr3:150545712-150545712;A/C missense_variant False SERPINA10@p.D247H 1 0.228346457 ENSG00000140093 chr14:94288539-94288539;C/G missense_variant False SERPINA10@p.E57K 1 0.45 ENSG00000140093 chr14:94290425-94290425;C/T missense_variant False SERPINA11@p.E370K 1 0.222222222 ENSG00000186910 chr14:94442767-94442767;C/T missense_variant False SERPINA11@p.L100M 1 0.1 ENSG00000186910 chr14:94448477-94448477;G/T missense_variant False SERPINA12@p.E333Q 1 0.333333333 ENSG00000165953 chr14:94489676-94489676;C/G missense_variant False SERPINA12@p.G135E 1 0.284810127 ENSG00000165953 chr14:94497994-94497994;C/T missense_variant False SERPINA12@p.I271M 1 0.203389831 ENSG00000165953 chr14:94496465-94496465;G/C missense_variant False SERPINA12@p.K224E 1 0.326923077 ENSG00000165953 chr14:94496608-94496608;T/C missense_variant False SERPINA12@p.L204V 1 0.211764706 ENSG00000165953 chr14:94497788-94497788;G/C missense_variant False SERPINA12@p.M107L 1 0.424242424 ENSG00000165953 chr14:94498079-94498079;T/A missense_variant False SERPINA12@p.S235L 1 0.259259259 ENSG00000165953 chr14:94496574-94496574;G/A missense_variant False SERPINA12@p.S93N 1 0.173913043 ENSG00000165953 chr14:94498120-94498120;C/T missense_variant False SERPINA1@p.D183N 1 0.106741573 ENSG00000197249 chr14:94382691-94382691;C/T missense_variant False SERPINA3@p.E112Q 1 0.6 ENSG00000196136 chr14:94614775-94614775;G/C missense_variant False SERPINA3@p.N38T 1 0.276785714 ENSG00000196136 chr14:94614554-94614554;A/C missense_variant False SERHL2@p.Q212H 1 0.191489362 ENSG00000183569 chr22:42566326-42566326;G/C missense_variant False SERHL2@p.D251N 1 0.141732283 ENSG00000183569 chr22:42572455-42572455;G/A missense_variant False SEPTIN1@p.C340Sfs*19 1 0.381944444 ENSG00000180096 chr16:30379066-30379067;-/AGCG frameshift_variant False SEPTIN3@p.P347S 1 0.609756098 ENSG00000100167 chr22:41996929-41996929;C/T missense_variant False SEPTIN4@p.P442L 1 0.194945848 ENSG00000108387 chr17:58520795-58520795;G/A missense_variant False SEPTIN4@p.L269F 1 0.672727273 ENSG00000108387 chr17:58543380-58543380;C/A missense_variant False SEPTIN4@p.E471Q 1 0.060150376 ENSG00000108387 chr17:58542776-58542776;C/G missense_variant False SEPTIN4@p.E14K 1 0.168269231 ENSG00000108387 chr17:58529135-58529135;C/T missense_variant False SEPTIN4@p.D397N 1 0.468531469 ENSG00000108387 chr17:58521086-58521086;C/T missense_variant False SEPTIN4@p.D31N 1 0.339285714 ENSG00000108387 chr17:58526948-58526948;C/T missense_variant False SEPTIN2@p.R303T 1 0.289473684 ENSG00000168385 chr2:241346231-241346231;G/C missense_variant False SERGEF@p.N359S 1 0.205128205 ENSG00000129158 chr11:17788386-17788386;T/C missense_variant False SEPTIN1@p.V215F 1 0.377358491 ENSG00000180096 chr16:30381183-30381183;C/A missense_variant False SEPTIN1@p.R352Q 1 0.607142857 ENSG00000180096 chr16:30379030-30379030;C/T missense_variant False SEPTIN1@p.R352P 1 0.257142857 ENSG00000180096 chr16:30379030-30379030;C/G missense_variant False SEPTIN1@p.Q102R 1 0.388888889 ENSG00000180096 chr16:30382110-30382110;T/C missense_variant False SEPTIN1@p.E385D 1 0.56 ENSG00000180096 chr16:30378613-30378613;T/G missense_variant False SEPTIN1@p.D330N 1 0.1875 ENSG00000180096 chr16:30379097-30379097;C/T missense_variant False SEPTIN4@p.S155C 1 0.06122449 ENSG00000108387 chr17:58543723-58543723;G/C missense_variant False SEPTIN6@p.H144Q 1 0.402777778 ENSG00000125354 chrX:119652950-119652950;A/C missense_variant False SEPTIN7@p.R263K 1 0.2 ENSG00000122545 chr7:35883955-35883955;G/A missense_variant False SEPTIN7@p.T301N 1 0.296296296 ENSG00000122545 chr7:35890697-35890697;C/A missense_variant False SEPTIN8@p.S141L 1 0.487562189 ENSG00000164402 chr5:132763818-132763818;G/A missense_variant False SEPTIN8@p.V230D 1 0.134328358 ENSG00000164402 chr5:132762491-132762491;A/T missense_variant False SEPTIN9@p.I112L 1 0.324324324 ENSG00000184640 chr17:77402316-77402316;A/C missense_variant False SERAC1@p.E427K 1 0.24 ENSG00000122335 chr6:158119058-158119058;C/T missense_variant False SERAC1@p.G180D 1 0.463414634 ENSG00000122335 chr6:158144369-158144369;C/T missense_variant False SERAC1@p.H534Y 1 0.398648649 ENSG00000122335 chr6:158114873-158114873;G/A missense_variant False SERAC1@p.I521M 1 0.247863248 ENSG00000122335 chr6:158114910-158114910;G/C missense_variant False SERAC1@p.R316K 1 0.139240506 ENSG00000122335 chr6:158128176-158128176;C/T missense_variant False SERBP1@p.A100T 1 0.402135231 ENSG00000142864 chr1:67430003-67430003;C/T missense_variant False SERBP1@p.G42S 1 0.438356164 ENSG00000142864 chr1:67430177-67430177;C/T missense_variant False SERBP1@p.R170I 1 0.327586207 ENSG00000142864 chr1:67425179-67425179;C/A missense_variant False SERF2@p.E8K 1 0.4375 ENSG00000140264 chr15:43792989-43792989;G/A missense_variant False SERGEF@p.F250L 1 0.403508772 ENSG00000129158 chr11:17988691-17988691;G/C missense_variant False SEMA6D@p.P127A 1 0.194029851 ENSG00000137872 chr15:47761363-47761363;C/G missense_variant False SEMA6D@p.N246S 1 0.285714286 ENSG00000137872 chr15:47763094-47763094;A/G missense_variant False SEMA6D@p.D408N 1 0.064935065 ENSG00000137872 chr15:47764762-47764762;G/A missense_variant False SEMA3C@p.I411M 1 0.457943925 ENSG00000075223 chr7:80789427-80789427;G/C missense_variant False SEMA3D@p.I297M 1 0.380434783 ENSG00000153993 chr7:85042256-85042256;T/C missense_variant False SEMA3D@p.E588K 1 0.390243902 ENSG00000153993 chr7:85012788-85012788;C/T missense_variant False SEMA3D@p.D364N 1 0.120481928 ENSG00000153993 chr7:85036990-85036990;C/T missense_variant False SEMA3C@p.Y54C 1 0.127659574 ENSG00000075223 chr7:80828688-80828688;T/C missense_variant False SEMA3C@p.R713W 1 0.187214612 ENSG00000075223 chr7:80745013-80745013;G/A missense_variant False SEMA3C@p.M704I 1 0.087719298 ENSG00000075223 chr7:80745038-80745038;C/T missense_variant False SEMA3C@p.G450R 1 0.278688525 ENSG00000075223 chr7:80789312-80789312;C/G missense_variant False SEMA3A@p.L16R 1 0.241666667 ENSG00000075213 chr7:84194540-84194540;A/C missense_variant False SEMA3B@p.R738C 1 0.571428571 ENSG00000012171 chr3:50276668-50276668;C/T missense_variant False SEMA3B@p.R595C 1 0.7 ENSG00000012171 chr3:50275782-50275782;C/T missense_variant False SEMA3B@p.D396E 1 0.219047619 ENSG00000012171 chr3:50274413-50274413;C/A missense_variant False SEMA3A@p.T98N 1 0.261261261 ENSG00000075213 chr7:84129163-84129163;G/T missense_variant False SEMA3A@p.S644L 1 0.263157895 ENSG00000075213 chr7:83961756-83961756;G/A missense_variant False SEMA3A@p.Q632E 1 0.414634146 ENSG00000075213 chr7:83961793-83961793;G/C missense_variant False SEMA3D@p.M689I 1 0.204819277 ENSG00000153993 chr7:84999707-84999707;C/T missense_variant False SEMA3D@p.R762Q 1 0.112903226 ENSG00000153993 chr7:84999489-84999489;C/T missense_variant False SEMA3D@p.R766G 1 0.3125 ENSG00000153993 chr7:84999478-84999478;T/C missense_variant False SEMA3D@p.S206F 1 0.177777778 ENSG00000153993 chr7:85065525-85065525;G/A missense_variant False SEMA3D@p.S267A 1 0.315789474 ENSG00000153993 chr7:85055779-85055779;A/C missense_variant False SEMA3D@p.S26N 1 0.404761905 ENSG00000153993 chr7:85121815-85121815;C/T missense_variant False SEMA3D@p.S566F 1 0.235294118 ENSG00000153993 chr7:85015065-85015065;G/A missense_variant False SEMA3D@p.Y432D 1 0.28342246 ENSG00000153993 chr7:85022511-85022511;A/C missense_variant False SEMA3D@p.Y537F 1 0.671428571 ENSG00000153993 chr7:85015152-85015152;T/A missense_variant False SEMA3E@p.G207E 1 0.214285714 ENSG00000170381 chr7:83408418-83408418;C/T missense_variant False SEMA3E@p.K627N 1 0.15942029 ENSG00000170381 chr7:83368033-83368033;C/G missense_variant False SEMA3E@p.P379S 1 0.151515152 ENSG00000170381 chr7:83402640-83402640;G/A missense_variant False SEMA3E@p.P769S 1 0.5 ENSG00000170381 chr7:83367609-83367609;G/A missense_variant False SEMA3E@p.Q699H 1 0.204301075 ENSG00000170381 chr7:83367817-83367817;C/G missense_variant False SEMA3E@p.R403Q 1 0.125 ENSG00000170381 chr7:83400186-83400186;C/T missense_variant False SEMA3E@p.R737G 1 0.292576419 ENSG00000170381 chr7:83367705-83367705;T/C missense_variant False SEMA3E@p.S524G 1 0.6 ENSG00000170381 chr7:83392652-83392652;T/C missense_variant False SEMA3A@p.Q430E 1 0.077586207 ENSG00000075213 chr7:84005411-84005411;G/C missense_variant False SEMA3A@p.K168N 1 0.108843537 ENSG00000075213 chr7:84060508-84060508;C/G missense_variant False SEMA3E@p.V293I 1 0.43125 ENSG00000170381 chr7:83405996-83405996;C/T missense_variant False SELENOI@p.V62E 1 0.627118644 ENSG00000138018 chr2:26364890-26364890;T/A missense_variant False SELENOO@p.D368N 1 0.405797101 ENSG00000073169 chr22:50210662-50210662;G/A missense_variant False SELENON@p.R204H 1 0.290322581 ENSG00000162430 chr1:25808653-25808653;G/A missense_variant False SELENON@p.Q312E 1 0.066666667 ENSG00000162430 chr1:25809744-25809744;C/G missense_variant False SELENON@p.P242A 1 0.223529412 ENSG00000162430 chr1:25808766-25808766;C/G missense_variant False SELENON@p.L468F 1 0.142857143 ENSG00000162430 chr1:25813895-25813895;C/T missense_variant False SELENON@p.A349S 1 0.196374622 ENSG00000162430 chr1:25811488-25811488;G/T missense_variant False SELENOI@p.A111G 1 0.1 ENSG00000138018 chr2:26373388-26373388;C/G missense_variant False SEMA3A@p.H128D 1 0.154761905 ENSG00000075213 chr7:84110541-84110541;G/C missense_variant False SELENOH@p.L117F 1 0.411764706 ENSG00000211450 chr11:57742199-57742199;G/C missense_variant False SELENOH@p.K68Q 1 0.666666667 ENSG00000211450 chr11:57741888-57741888;A/C missense_variant False SELENBP1@p.V432I 1 0.484536082 ENSG00000143416 chr1:151364668-151364668;C/T missense_variant False SELENBP1@p.S101F 1 0.431372549 ENSG00000143416 chr1:151369062-151369062;G/A missense_variant False SELENBP1@p.Q391H 1 0.272727273 ENSG00000143416 chr1:151365009-151365009;C/G missense_variant False SELENBP1@p.K397E 1 0.264705882 ENSG00000143416 chr1:151364993-151364993;T/C missense_variant False SELENOO@p.E324K 1 0.5625 ENSG00000073169 chr22:50210211-50210211;G/A missense_variant False SELENOO@p.L397Rfs*49 1 0.265060241 ENSG00000073169 chr22:50210750-50210762;TGCCCCTGGAGCT/- frameshift_variant False SELENOP@p.D292N 1 0.293478261 ENSG00000250722 chr5:42800992-42800992;C/T missense_variant False SELENOP@p.Q56E 1 0.125 ENSG00000250722 chr5:42808188-42808188;G/C missense_variant False SELENOP@p.S16L 1 0.125 ENSG00000250722 chr5:42808307-42808307;G/A missense_variant False SELENOT@p.L7F 1 0.4 ENSG00000198843 chr3:150603381-150603381;C/T missense_variant False SELENOV@p.D340N 1 0.453125 ENSG00000186838 chr19:39519125-39519125;G/A missense_variant False SELP@p.D398H 1 0.14516129 ENSG00000174175 chr1:169609645-169609645;C/G missense_variant False SELP@p.D553N 1 0.35106383 ENSG00000174175 chr1:169603074-169603074;C/T missense_variant False SELP@p.Q14H 1 0.109090909 ENSG00000174175 chr1:169619181-169619181;C/G missense_variant False SELP@p.S596F 1 0.439393939 ENSG00000174175 chr1:169597095-169597095;G/A missense_variant False SELP@p.S689L 1 0.17535545 ENSG00000174175 chr1:169595960-169595960;G/A missense_variant False SELPLG@p.S290Y 1 0.146341463 ENSG00000110876 chr12:108623439-108623439;G/T missense_variant False SELPLG@p.T249M 1 0.1 ENSG00000110876 chr12:108623562-108623562;G/A missense_variant False SEM1@p.E18K 1 0.222857143 ENSG00000127922 chr7:96709712-96709712;C/T missense_variant False SEMA3A@p.D217V 1 0.11627907 ENSG00000075213 chr7:84046341-84046341;T/A missense_variant False SEMA3A@p.G107E 1 0.26984127 ENSG00000075213 chr7:84129136-84129136;C/T missense_variant False SEMA3E@p.S720T 1 0.221621622 ENSG00000170381 chr7:83367755-83367755;C/G missense_variant False SEMA3E@p.V489D 1 0.435897436 ENSG00000170381 chr7:83394331-83394331;A/T missense_variant False SEMA6C@p.S367L 1 0.042713568 ENSG00000143434 chr1:151136454-151136454;G/A missense_variant False SEMA5A@p.S530C 1 0.209677419 ENSG00000112902 chr5:9136514-9136514;G/C missense_variant False SEMA5B@p.K323N 1 0.238095238 ENSG00000082684 chr3:122926559-122926559;C/G missense_variant False SEMA5B@p.E407K 1 0.277310924 ENSG00000082684 chr3:122923670-122923670;C/T missense_variant False SEMA5B@p.E221K 1 0.096774194 ENSG00000082684 chr3:122927979-122927979;C/T missense_variant False SEMA5B@p.E109Q 1 0.24 ENSG00000082684 chr3:122948509-122948509;C/G missense_variant False SEMA5B@p.D232E 1 0.120689655 ENSG00000082684 chr3:122927944-122927944;G/C missense_variant False SEMA5B@p.A54T 1 0.123287671 ENSG00000082684 chr3:122948674-122948674;C/T missense_variant False SEMA5A@p.R807Q 1 0.176470588 ENSG00000112902 chr5:9062985-9062985;C/T missense_variant False SEMA4G@p.E157K 1 0.352941176 ENSG00000095539 chr10:100978328-100978328;G/A missense_variant False SEMA5A@p.M272I 1 0.465346535 ENSG00000112902 chr5:9202071-9202071;C/T missense_variant False SEMA5A@p.F729L 1 0.595652174 ENSG00000112902 chr5:9066533-9066533;G/C missense_variant False SEMA4G@p.R819P 1 0.132352941 ENSG00000095539 chr10:100984070-100984070;G/C missense_variant False SEMA4G@p.R789* 1 0.166666667 ENSG00000095539 chr10:100983979-100984009;CGGAGGATGAATGGCAATAGCTATGTGCTTC/- frameshift_variant False SEMA4G@p.E248K 1 0.607142857 ENSG00000095539 chr10:100978947-100978947;G/A missense_variant False SEMA4G@p.E244Q 1 0.069767442 ENSG00000095539 chr10:100978935-100978935;G/C missense_variant False SEMA5B@p.L44F 1 0.095238095 ENSG00000082684 chr3:122948704-122948704;G/A missense_variant False SEMA5B@p.P965S 1 0.461538462 ENSG00000082684 chr3:122912175-122912175;G/A missense_variant False SEMA5B@p.R273S 1 0.428571429 ENSG00000082684 chr3:122927823-122927823;G/T missense_variant False SEMA5B@p.R581H 1 0.397727273 ENSG00000082684 chr3:122915837-122915837;C/T missense_variant False SEMA5B@p.S38L 1 0.5 ENSG00000082684 chr3:122961151-122961151;G/A missense_variant False SEMA5B@p.S73R 1 0.12195122 ENSG00000082684 chr3:122948615-122948615;G/T missense_variant False SEMA6A@p.K36E 1 0.428571429 ENSG00000092421 chr5:116502322-116502322;T/C missense_variant False SEMA6A@p.R308Vfs*68 1 0.213592233 ENSG00000092421 chr5:116486790-116486790;C/- frameshift_variant False SEMA6B@p.C378S 1 0.267241379 ENSG00000167680 chr19:4550261-4550261;C/G missense_variant False SEMA6B@p.D394N 1 0.575342466 ENSG00000167680 chr19:4550214-4550214;C/T missense_variant False SEMA6B@p.P438L 1 0.127659574 ENSG00000167680 chr19:4548404-4548404;G/A missense_variant False SEMA6C@p.E470Q 1 0.348039216 ENSG00000143434 chr1:151135616-151135616;C/G missense_variant False SEMA6C@p.F144L 1 0.401960784 ENSG00000143434 chr1:151138654-151138654;G/C missense_variant False SEMA6C@p.F347L 1 0.177606178 ENSG00000143434 chr1:151136513-151136513;G/C missense_variant False SEMA6C@p.Q533E 1 0.227272727 ENSG00000143434 chr1:151134859-151134859;G/C missense_variant False SEMA6C@p.R203T 1 0.144736842 ENSG00000143434 chr1:151138045-151138045;C/G missense_variant False SEMA6C@p.R284W 1 0.391566265 ENSG00000143434 chr1:151136981-151136981;G/A missense_variant False SEMA4G@p.E157Q 1 0.206896552 ENSG00000095539 chr10:100978328-100978328;G/C missense_variant False SEMA4G@p.D234Y 1 0.416666667 ENSG00000095539 chr10:100978905-100978905;G/T missense_variant False SEMA3E@p.W13L 1 0.209302326 ENSG00000170381 chr7:83648505-83648505;C/A missense_variant False SEMA3G@p.G168R 1 0.375 ENSG00000010319 chr3:52441867-52441867;C/T missense_variant False SEMA4A@p.R713W 1 0.2 ENSG00000196189 chr1:156176848-156176848;C/T missense_variant False SEMA4A@p.P464Lfs*20 1 0.099099099 ENSG00000196189 chr1:156174895-156174895;C/- frameshift_variant False SEMA4A@p.K110N 1 0.196078431 ENSG00000196189 chr1:156158099-156158099;G/C missense_variant False SEMA4A@p.D65H 1 0.316326531 ENSG00000196189 chr1:156156467-156156467;G/C missense_variant False SEMA3G@p.R167L 1 0.363636364 ENSG00000010319 chr3:52441869-52441869;C/A missense_variant False SEMA3G@p.G473D 1 0.266666667 ENSG00000010319 chr3:52439729-52439729;C/T missense_variant False SEMA3G@p.E476K 1 0.13559322 ENSG00000010319 chr3:52439721-52439721;C/T missense_variant False SEMA4F@p.A87P 1 0.405594406 ENSG00000135622 chr2:74656647-74656647;G/C missense_variant False SEMA3F@p.Y533Tfs*16 1 0.257142857 ENSG00000001617 chr3:50185897-50185922;CTACGTGGCGTCAGCCGTGGGTGTCA/- frameshift_variant False SEMA3F@p.K37E 1 0.24 ENSG00000001617 chr3:50159731-50159731;A/G missense_variant False SEMA3F@p.E479K 1 0.43902439 ENSG00000001617 chr3:50184793-50184793;G/A missense_variant False SEMA3F@p.E195K 1 0.070866142 ENSG00000001617 chr3:50176801-50176801;G/A missense_variant False SEMA3F@p.E102K 1 0.476190476 ENSG00000001617 chr3:50174082-50174082;G/A missense_variant False SEMA3F@p.D429N 1 0.25 ENSG00000001617 chr3:50184643-50184643;G/A missense_variant False SEMA4A@p.S527C 1 0.268817204 ENSG00000196189 chr1:156175231-156175231;C/G missense_variant False SEMA4A@p.S574C 1 0.095238095 ENSG00000196189 chr1:156176432-156176432;C/G missense_variant False SEMA4A@p.V507A 1 0.452380952 ENSG00000196189 chr1:156175171-156175171;T/C missense_variant False SEMA4B@p.E676V 1 0.44 ENSG00000185033 chr15:90228156-90228156;A/T missense_variant False SEMA4B@p.F191L 1 0.7 ENSG00000185033 chr15:90221071-90221071;C/G missense_variant False SEMA4B@p.F273L 1 0.527272727 ENSG00000185033 chr15:90221723-90221723;C/A missense_variant False SEMA4B@p.K805E 1 0.666666667 ENSG00000185033 chr15:90228542-90228542;A/G missense_variant False SEMA4B@p.L748* 1 0.358974359 ENSG00000185033 chr15:90228370-90228370;C/- frameshift_variant False SEMA4B@p.R184H 1 0.5 ENSG00000185033 chr15:90221049-90221049;G/A missense_variant False SEMA4C@p.N105S 1 0.338235294 ENSG00000168758 chr2:96865874-96865874;T/C missense_variant False SEMA4C@p.N182S 1 0.28125 ENSG00000168758 chr2:96865293-96865293;T/C missense_variant False SEMA4C@p.R376W 1 0.416666667 ENSG00000168758 chr2:96864130-96864130;G/A missense_variant False SEMA4C@p.S685L 1 0.368421053 ENSG00000168758 chr2:96861074-96861074;G/A missense_variant False SEMA4C@p.W89L 1 0.093167702 ENSG00000168758 chr2:96865922-96865922;C/A missense_variant False SEMA4D@p.P45Q 1 0.157894737 ENSG00000187764 chr9:89402989-89402989;G/T missense_variant False SEMA4D@p.R785C 1 0.43902439 ENSG00000187764 chr9:89378940-89378940;G/A missense_variant False SEMA4D@p.S615L 1 0.634577603 ENSG00000187764 chr9:89379449-89379449;G/A missense_variant False SHC1@p.I567M 1 0.069620253 ENSG00000160691 chr1:154963854-154963854;G/C missense_variant False SHC1@p.L18V 1 0.333333333 ENSG00000160691 chr1:154970475-154970475;G/C missense_variant False SHC1@p.L234V 1 0.43814433 ENSG00000160691 chr1:154968545-154968545;G/C missense_variant False SLC25A19@p.A57G 1 0.063559322 ENSG00000125454 chr17:75286422-75286422;G/C missense_variant False SLC25A22@p.E279K 1 0.533333333 ENSG00000177542 chr11:792052-792052;C/T missense_variant False SLC25A20@p.M177L 1 0.230769231 ENSG00000178537 chr3:48862548-48862548;T/A missense_variant False SLC25A20@p.E288Q 1 0.333333333 ENSG00000178537 chr3:48857754-48857754;C/G missense_variant False SLC25A1@p.Q154H 1 0.245283019 ENSG00000100075 chr22:19177184-19177184;C/G missense_variant False SLC25A19@p.R320H 1 0.197628458 ENSG00000125454 chr17:75273455-75273455;C/T missense_variant False SLC25A19@p.Q86H 1 0.131868132 ENSG00000125454 chr17:75286334-75286334;C/A missense_variant False SLC25A18@p.E214K 1 0.376068376 ENSG00000182902 chr22:17587989-17587989;G/A missense_variant False SLC25A23@p.A349E 1 0.217391304 ENSG00000125648 chr19:6452337-6452337;G/T missense_variant False SLC25A17@p.E8K 1 0.063829787 ENSG00000100372 chr22:40819227-40819227;C/T missense_variant False SLC25A17@p.E41Q 1 0.307692308 ENSG00000100372 chr22:40794575-40794575;C/G missense_variant False SLC25A16@p.H67Y 1 0.306122449 ENSG00000122912 chr10:68516775-68516775;G/A missense_variant False SLC25A16@p.F175L 1 0.230769231 ENSG00000122912 chr10:68493467-68493467;G/C missense_variant False SLC25A15@p.S117Y 1 0.460784314 ENSG00000102743 chr13:40805153-40805153;C/A missense_variant False SLC25A15@p.I233M 1 0.149068323 ENSG00000102743 chr13:40808514-40808514;C/G missense_variant False SLC25A22@p.Q93E 1 0.304347826 ENSG00000177542 chr11:793545-793545;G/C missense_variant False SLC25A23@p.E179Q 1 0.449275362 ENSG00000125648 chr19:6454666-6454666;C/G missense_variant False SLC26A8@p.R298K 1 0.538461538 ENSG00000112053 chr6:35991708-35991708;C/T missense_variant False SLC25A27@p.G319E 1 0.194915254 ENSG00000153291 chr6:46676438-46676438;G/A missense_variant False SLC25A2@p.E288K 1 0.3 ENSG00000120329 chr5:141303004-141303004;C/T missense_variant False SLC25A2@p.D12N 1 0.32 ENSG00000120329 chr5:141303832-141303832;C/T missense_variant False SLC25A28@p.S227C 1 0.072072072 ENSG00000155287 chr10:99611265-99611265;T/A missense_variant False SLC25A27@p.R46G 1 0.202380952 ENSG00000153291 chr6:46655872-46655872;C/G missense_variant False SLC25A27@p.P93S 1 0.338129496 ENSG00000153291 chr6:46656013-46656013;C/T missense_variant False SLC25A27@p.M157T 1 0.444444444 ENSG00000153291 chr6:46662462-46662462;T/C missense_variant False SLC25A27@p.E316Q 1 0.369047619 ENSG00000153291 chr6:46676428-46676428;G/C missense_variant False SLC25A23@p.R127Q 1 0.760869565 ENSG00000125648 chr19:6456523-6456523;C/T missense_variant False SLC25A26@p.S96F 1 0.267515924 ENSG00000144741 chr3:66243299-66243299;C/T missense_variant False SLC25A25@p.S288_G291del 1 0.275590551 ENSG00000148339 chr9:128106205-128106216;TGGCAGGGTCCT/- inframe_deletion False SLC25A25@p.S25F 1 0.16 ENSG00000148339 chr9:128068393-128068393;C/T missense_variant False SLC25A25@p.G237E 1 0.170212766 ENSG00000148339 chr9:128105793-128105793;G/A missense_variant False SLC25A25@p.E83K 1 0.583333333 ENSG00000148339 chr9:128068566-128068566;G/A missense_variant False SLC25A23@p.R332L 1 0.243243243 ENSG00000125648 chr19:6452388-6452388;C/A missense_variant False SLC25A14@p.M264I 1 0.260606061 ENSG00000102078 chrX:130365613-130365613;G/A missense_variant False SLC25A13@p.V199L 1 0.46969697 ENSG00000004864 chr7:96193057-96193057;C/A missense_variant False SLC25A13@p.T210Vfs*41 1 0.121212121 ENSG00000004864 chr7:96191236-96191237;-/CC frameshift_variant False SLC24A3@p.I373M 1 0.327272727 ENSG00000185052 chr20:19685156-19685156;C/G missense_variant False SLC24A4@p.R421T 1 0.22 ENSG00000140090 chr14:92482686-92482686;G/C missense_variant False SLC24A4@p.P380T 1 0.40776699 ENSG00000140090 chr14:92456491-92456491;C/A missense_variant False SLC24A4@p.G301D 1 0.102040816 ENSG00000140090 chr14:92453921-92453921;G/A missense_variant False SLC24A4@p.D502H 1 0.777777778 ENSG00000140090 chr14:92486747-92486747;G/C missense_variant False SLC24A3@p.V532L 1 0.810810811 ENSG00000185052 chr20:19696899-19696899;G/C missense_variant False SLC24A3@p.N631T 1 0.47260274 ENSG00000185052 chr20:19721097-19721097;A/C missense_variant False SLC24A3@p.G179A 1 0.204444444 ENSG00000185052 chr20:19585468-19585468;G/C missense_variant False SLC25A13@p.L278V 1 0.482993197 ENSG00000004864 chr7:96189597-96189597;A/C missense_variant False SLC24A3@p.G151R 1 0.180851064 ENSG00000185052 chr20:19584998-19584998;G/A missense_variant False SLC24A3@p.F189L 1 0.115646259 ENSG00000185052 chr20:19585499-19585499;C/G missense_variant False SLC24A3@p.E432Q 1 0.158730159 ENSG00000185052 chr20:19685331-19685331;G/C missense_variant False SLC24A2@p.L249F 1 0.303797468 ENSG00000155886 chr9:19786120-19786120;C/G missense_variant False SLC24A2@p.K93N 1 0.166666667 ENSG00000155886 chr9:19786588-19786588;C/G missense_variant False SLC24A2@p.G332E 1 0.071428571 ENSG00000155886 chr9:19619667-19619667;C/T missense_variant False SLC24A4@p.S561F 1 0.072289157 ENSG00000140090 chr14:92492206-92492206;C/T missense_variant False SLC24A5@p.E89Q 1 0.477419355 ENSG00000188467 chr15:48122000-48122000;G/C missense_variant False SLC24A5@p.R436G 1 0.296296296 ENSG00000188467 chr15:48142154-48142154;A/G missense_variant False SLC24A5@p.R465K 1 0.405797101 ENSG00000188467 chr15:48142242-48142242;G/A missense_variant False SLC25A11@p.D113N 1 0.378378378 ENSG00000108528 chr17:4938887-4938887;C/T missense_variant False SLC25A11@p.G290C 1 0.113636364 ENSG00000108528 chr17:4937818-4937818;C/A missense_variant False SLC25A11@p.V265M 1 0.304761905 ENSG00000108528 chr17:4937893-4937893;C/T missense_variant False SLC25A12@p.D38H 1 0.357142857 ENSG00000115840 chr2:171868778-171868778;C/G missense_variant False SLC25A12@p.D49H 1 0.4 ENSG00000115840 chr2:171868745-171868745;C/G missense_variant False SLC25A12@p.G359V 1 0.411290323 ENSG00000115840 chr2:171813434-171813434;C/A missense_variant False SLC25A12@p.L239V 1 0.245714286 ENSG00000115840 chr2:171834763-171834763;G/C missense_variant False SLC25A12@p.Q117L 1 0.388888889 ENSG00000115840 chr2:171844484-171844484;T/A missense_variant False SLC25A12@p.R10Q 1 0.172222222 ENSG00000115840 chr2:171893242-171893242;C/T missense_variant False SLC25A12@p.Y639N 1 0.340659341 ENSG00000115840 chr2:171785396-171785396;A/T missense_variant False SLC25A13@p.I47N 1 0.235294118 ENSG00000004864 chr7:96277268-96277268;A/T missense_variant False SLC25A13@p.I627M 1 0.32 ENSG00000004864 chr7:96121338-96121338;G/C missense_variant False SLC25A13@p.K235N 1 0.0625 ENSG00000004864 chr7:96191158-96191158;C/G missense_variant False SLC25A2@p.G208V 1 0.352112676 ENSG00000120329 chr5:141303243-141303243;C/A missense_variant False SLC25A2@p.G244E 1 0.298701299 ENSG00000120329 chr5:141303135-141303135;C/T missense_variant False SLC25A2@p.N78H 1 0.337278107 ENSG00000120329 chr5:141303634-141303634;T/G missense_variant False SLC26A3@p.R389T 1 0.194915254 ENSG00000091138 chr7:107783047-107783047;C/G missense_variant False SLC26A5@p.A43V 1 0.320754717 ENSG00000170615 chr7:103421387-103421387;G/A missense_variant False SLC26A4@p.S90L 1 0.133928571 ENSG00000091137 chr7:107663400-107663400;C/T missense_variant False SLC26A4@p.R185I 1 0.134328358 ENSG00000091137 chr7:107674302-107674302;G/T missense_variant False SLC26A4@p.N613Y 1 0.384615385 ENSG00000091137 chr7:107701860-107701860;A/T missense_variant False SLC26A4@p.D266H 1 0.3125 ENSG00000091137 chr7:107683232-107683232;G/C missense_variant False SLC26A4@p.A779P 1 0.123966942 ENSG00000091137 chr7:107715438-107715438;G/C missense_variant False SLC26A3@p.Q495E 1 0.6 ENSG00000091138 chr7:107778206-107778206;G/C missense_variant False SLC26A11@p.S253C 1 0.141509434 ENSG00000181045 chr17:80236949-80236949;C/G missense_variant False SLC26A3@p.H32N 1 0.127272727 ENSG00000091138 chr7:107794416-107794416;G/T missense_variant False SLC26A3@p.G319W 1 0.151898734 ENSG00000091138 chr7:107786843-107786843;C/A missense_variant False SLC26A3@p.D660H 1 0.25 ENSG00000091138 chr7:107773949-107773949;C/G missense_variant False SLC26A3@p.D370H 1 0.472049689 ENSG00000091138 chr7:107783216-107783216;C/G missense_variant False SLC26A1@p.F126L 1 0.056521739 ENSG00000145217 chr4:991326-991326;G/T missense_variant False SLC26A1@p.E221K 1 0.454545455 ENSG00000145217 chr4:979420-979420;C/T missense_variant False SLC26A5@p.E666Q 1 0.15 ENSG00000170615 chr7:103376853-103376853;C/G missense_variant False SLC26A5@p.I652S 1 0.191780822 ENSG00000170615 chr7:103377630-103377630;A/C missense_variant False SLC26A5@p.P287S 1 0.434782609 ENSG00000170615 chr7:103407880-103407880;G/A missense_variant False SLC26A5@p.P331S 1 0.308823529 ENSG00000170615 chr7:103393047-103393047;G/A missense_variant False SLC26A5@p.T464A 1 0.173913043 ENSG00000170615 chr7:103389346-103389346;T/C missense_variant False SLC26A6@p.D649H 1 0.166666667 ENSG00000225697 chr3:48627004-48627004;C/G missense_variant False SLC26A6@p.D695N 1 0.347504621 ENSG00000225697 chr3:48626676-48626676;C/T missense_variant False SLC26A6@p.G676D 1 0.260869565 ENSG00000225697 chr3:48626922-48626922;C/T missense_variant False SLC26A7@p.A272_N277delinsD 1 0.222222222 ENSG00000147606 chr8:91338169-91338183;CTTGTTATTGCACCA/- inframe_deletion False SLC26A7@p.G456A 1 0.085011186 ENSG00000147606 chr8:91362405-91362405;G/C missense_variant False SLC26A7@p.H98N 1 0.091666667 ENSG00000147606 chr8:91289234-91289234;C/A missense_variant False SLC26A7@p.M494T 1 0.329545455 ENSG00000147606 chr8:91363531-91363531;T/C missense_variant False SLC26A7@p.P260Lfs*2 1 0.34375 ENSG00000147606 chr8:91334430-91334430;C/- frameshift_variant False SLC26A7@p.S330C 1 0.195876289 ENSG00000147606 chr8:91340514-91340514;C/G missense_variant False SLC26A8@p.D337A 1 0.298701299 ENSG00000112053 chr6:35982136-35982136;T/G missense_variant False SLC26A8@p.E81Q 1 0.173076923 ENSG00000112053 chr6:36012320-36012320;C/G missense_variant False SLC26A8@p.F370V 1 0.372093023 ENSG00000112053 chr6:35977269-35977269;A/C missense_variant False SLC26A11@p.S261F 1 0.633027523 ENSG00000181045 chr17:80236973-80236973;C/T missense_variant False SLC25A6@p.A274E 1 0.664 ENSG00000292334 chrX:1386678-1386678;G/T missense_variant False SLC25A2@p.R195Q 1 0.460526316 ENSG00000120329 chr5:141303282-141303282;C/T missense_variant False SLC25A31@p.L265S 1 0.119760479 ENSG00000151475 chr4:127773420-127773420;T/C missense_variant False SLC25A3@p.I332Lfs*2 1 0.352941176 ENSG00000075415 chr12:98601432-98601433;TA/- frameshift_variant False SLC25A39@p.Q349H 1 0.06741573 ENSG00000013306 chr17:44320034-44320034;C/G missense_variant False SLC25A39@p.G318A 1 0.222222222 ENSG00000013306 chr17:44320207-44320207;C/G missense_variant False SLC25A38@p.T291A 1 0.368821293 ENSG00000144659 chr3:39396476-39396476;A/G missense_variant False SLC25A36@p.Q266Rfs*19 1 0.198019802 ENSG00000114120 chr3:140976306-140976306;T/- frameshift_variant False SLC25A35@p.G54R 1 0.366666667 ENSG00000125434 chr17:8294648-8294648;C/G missense_variant False SLC25A31@p.G85V 1 0.188888889 ENSG00000151475 chr4:127744693-127744693;G/T missense_variant False SLC25A5@p.M215I 1 0.184210526 ENSG00000005022 chrX:119470419-119470419;G/A missense_variant False SLC25A31@p.G65V 1 0.125 ENSG00000151475 chr4:127730739-127730739;G/T missense_variant False SLC25A31@p.D147H 1 0.240506329 ENSG00000151475 chr4:127764321-127764321;G/C missense_variant False SLC25A30@p.R61K 1 0.172043011 ENSG00000174032 chr13:45408957-45408957;C/T missense_variant False SLC25A30@p.L270dup 1 0.375 ENSG00000174032 chr13:45397281-45397282;-/TAA inframe_insertion False SLC25A30@p.L190F 1 0.147058824 ENSG00000174032 chr13:45401129-45401129;G/A missense_variant False SLC25A30@p.L14Afs*7 1 0.488372093 ENSG00000174032 chr13:45411386-45411387;-/C frameshift_variant False SLC25A40@p.G154V 1 0.52892562 ENSG00000075303 chr7:87847119-87847119;C/A missense_variant False SLC25A41@p.A91D 1 0.465116279 ENSG00000181240 chr19:6432140-6432140;G/T missense_variant False SLC25A41@p.E362K 1 0.347826087 ENSG00000181240 chr19:6426418-6426418;C/T missense_variant False SLC25A41@p.Q297H 1 0.285714286 ENSG00000181240 chr19:6427152-6427152;C/G missense_variant False SLC25A41@p.Q34Nfs*44 1 0.217391304 ENSG00000181240 chr19:6433594-6433594;G/- frameshift_variant False SLC25A42@p.E181Q 1 0.227272727 ENSG00000181035 chr19:19107937-19107937;G/C missense_variant False SLC25A43@p.Q315H 1 0.422885572 ENSG00000077713 chrX:119452984-119452984;G/C missense_variant False SLC25A44@p.S279L 1 0.245614035 ENSG00000160785 chr1:156210322-156210322;C/T missense_variant False SLC25A44@p.V160L 1 0.095238095 ENSG00000160785 chr1:156200325-156200325;G/C missense_variant False SLC25A45@p.D24H 1 0.196261682 ENSG00000162241 chr11:65380143-65380143;C/G missense_variant False SLC25A46@p.P315S 1 0.121052632 ENSG00000164209 chr5:110761468-110761468;C/T missense_variant False SLC25A46@p.Q198R 1 0.323529412 ENSG00000164209 chr5:110755494-110755494;A/G missense_variant False SLC25A47@p.I241M 1 0.115942029 ENSG00000140107 chr14:100329441-100329441;C/G missense_variant False SLC25A47@p.R75H 1 0.211764706 ENSG00000140107 chr14:100327267-100327267;G/A missense_variant False SLC25A4@p.A114V 1 0.485981308 ENSG00000151729 chr4:185144993-185144993;C/T missense_variant False SLC25A4@p.T233Nfs*5 1 0.586956522 ENSG00000151729 chr4:185145856-185145857;-/A frameshift_variant False SLC25A52@p.F52L 1 0.278074866 ENSG00000141437 chr18:31760536-31760536;G/T missense_variant False SLC24A2@p.E533D 1 0.5 ENSG00000155886 chr9:19521031-19521031;C/G missense_variant False SLC24A2@p.E110Q 1 0.303370787 ENSG00000155886 chr9:19786539-19786539;C/G missense_variant False SLC24A2@p.D421N 1 0.757575758 ENSG00000155886 chr9:19573437-19573437;C/T missense_variant False SLC1A4@p.G205E 1 0.169491525 ENSG00000115902 chr2:65003996-65003996;G/A missense_variant False SLC1A6@p.I68V 1 0.227272727 ENSG00000105143 chr19:14972709-14972709;T/C missense_variant False SLC1A6@p.I153F 1 0.25 ENSG00000105143 chr19:14968394-14968394;T/A missense_variant False SLC1A6@p.E528D 1 0.152777778 ENSG00000105143 chr19:14950306-14950306;C/G missense_variant False SLC1A6@p.E402K 1 0.308270677 ENSG00000105143 chr19:14954295-14954295;C/T missense_variant False SLC1A6@p.E238K 1 0.418181818 ENSG00000105143 chr19:14962225-14962225;C/T missense_variant False SLC1A5@p.A265G 1 0.149253731 ENSG00000105281 chr19:46782413-46782413;G/C missense_variant False SLC1A3@p.R226Q 1 0.160714286 ENSG00000079215 chr5:36677001-36677001;G/A missense_variant False SLC19A2@p.S359L 1 0.099236641 ENSG00000117479 chr1:169468791-169468791;G/A missense_variant False SLC1A3@p.E269Q 1 0.0625 ENSG00000079215 chr5:36677129-36677129;G/C missense_variant False SLC1A2@p.S560L 1 0.275862069 ENSG00000110436 chr11:35260940-35260940;G/A missense_variant False SLC1A2@p.D382Y 1 0.410714286 ENSG00000110436 chr11:35286899-35286899;C/A missense_variant False SLC1A1@p.R445Q 1 0.336734694 ENSG00000106688 chr9:4585317-4585317;G/A missense_variant False SLC1A1@p.E57Q 1 0.471830986 ENSG00000106688 chr9:4544644-4544644;G/C missense_variant False SLC19A3@p.W303C 1 0.208791209 ENSG00000135917 chr2:227698806-227698806;C/A missense_variant False SLC1A6@p.S538Afs*? 1 0.085106383 ENSG00000105143 chr19:14950279-14950279;G/- frameshift_variant False SLC1A7@p.E517Q 1 0.142857143 ENSG00000162383 chr1:53088143-53088143;C/G missense_variant False SLC20A1@p.A243S 1 0.19047619 ENSG00000144136 chr2:112657190-112657190;G/T missense_variant False SLC20A1@p.A304T 1 0.246753247 ENSG00000144136 chr2:112658956-112658956;G/A missense_variant False SLC20A1@p.C238Y 1 0.458823529 ENSG00000144136 chr2:112657176-112657176;G/A missense_variant False SLC20A1@p.D553N 1 0.202531646 ENSG00000144136 chr2:112660436-112660436;G/A missense_variant False SLC20A1@p.E268K 1 0.337078652 ENSG00000144136 chr2:112658848-112658848;G/A missense_variant False SLC20A1@p.S661C 1 0.560240964 ENSG00000144136 chr2:112662967-112662967;C/G missense_variant False SLC20A1@p.S67N 1 0.230769231 ENSG00000144136 chr2:112647028-112647028;G/A missense_variant False SLC20A1@p.V164M 1 0.060344828 ENSG00000144136 chr2:112647667-112647667;G/A missense_variant False SLC20A1@p.V484F 1 0.251612903 ENSG00000144136 chr2:112659605-112659605;G/T missense_variant False SLC20A2@p.G202E 1 0.139534884 ENSG00000168575 chr8:42459904-42459904;C/T missense_variant False SLC20A2@p.P177L 1 0.25 ENSG00000168575 chr8:42459979-42459979;G/A missense_variant False SLC22A10@p.C116Vfs*17 1 0.221052632 ENSG00000184999 chr11:63290508-63290508;C/- frameshift_variant False SLC22A10@p.D140N 1 0.111111111 ENSG00000184999 chr11:63291555-63291555;G/A missense_variant False SLC22A10@p.E517K 1 0.156626506 ENSG00000184999 chr11:63304840-63304840;G/A missense_variant False SLC22A10@p.G386E 1 0.666666667 ENSG00000184999 chr11:63302415-63302415;G/A missense_variant False SLC19A2@p.S492C 1 0.447761194 ENSG00000117479 chr1:169465868-169465868;G/C missense_variant False SLC19A2@p.R162Q 1 0.516129032 ENSG00000117479 chr1:169477477-169477477;C/T missense_variant False SLC22A10@p.R321K 1 0.277777778 ENSG00000184999 chr11:63299521-63299521;G/A missense_variant False SLC17A6@p.A10V 1 0.305555556 ENSG00000091664 chr11:22338562-22338562;C/T missense_variant False SLC17A7@p.E527K 1 0.361111111 ENSG00000104888 chr19:49430623-49430623;C/T missense_variant False SLC17A6@p.R440K 1 0.5 ENSG00000091664 chr11:22376578-22376578;G/A missense_variant False SLC17A6@p.L373V 1 0.454976303 ENSG00000091664 chr11:22374830-22374830;C/G missense_variant False SLC17A6@p.L236F 1 0.253164557 ENSG00000091664 chr11:22362783-22362783;C/T missense_variant False SLC17A6@p.E288D 1 0.162162162 ENSG00000091664 chr11:22365662-22365662;G/C missense_variant False SLC17A6@p.E14K 1 0.404761905 ENSG00000091664 chr11:22338573-22338573;G/A missense_variant False SLC17A5@p.R271T 1 0.110169492 ENSG00000119899 chr6:73635389-73635389;C/G missense_variant False SLC19A2@p.I379M 1 0.048780488 ENSG00000117479 chr1:169468730-169468730;G/C missense_variant False SLC17A5@p.R168T 1 0.25751073 ENSG00000119899 chr6:73641713-73641713;C/G missense_variant False SLC17A5@p.E30K 1 0.333333333 ENSG00000119899 chr6:73653799-73653799;C/T missense_variant False SLC17A5@p.A63V 1 0.117647059 ENSG00000119899 chr6:73644510-73644510;G/A missense_variant False SLC17A4@p.S300C 1 0.083333333 ENSG00000146039 chr6:25773586-25773586;C/G missense_variant False SLC17A4@p.L350V 1 0.06557377 ENSG00000146039 chr6:25776655-25776655;C/G missense_variant False SLC17A3@p.Y157H 1 0.464285714 ENSG00000124564 chr6:25855153-25855153;A/G missense_variant False SLC17A8@p.A348S 1 0.44 ENSG00000179520 chr12:100402734-100402734;G/T missense_variant False SLC17A8@p.K22N 1 0.28358209 ENSG00000179520 chr12:100357457-100357457;G/C missense_variant False SLC17A8@p.M363I 1 0.24137931 ENSG00000179520 chr12:100404073-100404073;G/A missense_variant False SLC17A8@p.R566T 1 0.869565217 ENSG00000179520 chr12:100420086-100420086;G/C missense_variant False SLC18A1@p.L132S 1 0.285714286 ENSG00000036565 chr8:20179214-20179214;A/G missense_variant False SLC18A2@p.S70C 1 0.409090909 ENSG00000165646 chr10:117244058-117244058;C/G missense_variant False SLC18A3@p.E79K 1 0.333333333 ENSG00000187714 chr10:49610975-49610975;G/A missense_variant False SLC18A3@p.M162_F163delinsI 1 0.134615385 ENSG00000187714 chr10:49611225-49611227;TGT/- inframe_deletion False SLC18A3@p.R512C 1 0.204081633 ENSG00000187714 chr10:49612274-49612274;C/T missense_variant False SLC18A3@p.T117M 1 0.318681319 ENSG00000187714 chr10:49611090-49611090;C/T missense_variant False SLC18B1@p.G193V 1 0.342105263 ENSG00000146409 chr6:132784013-132784013;C/A missense_variant False SLC18B1@p.L311S 1 0.298076923 ENSG00000146409 chr6:132774279-132774279;A/G missense_variant False SLC19A1@p.D310H 1 0.25 ENSG00000173638 chr21:45531410-45531410;C/G missense_variant False SLC19A1@p.D310N 1 0.269565217 ENSG00000173638 chr21:45531410-45531410;C/T missense_variant False SLC19A1@p.E294K 1 0.326086957 ENSG00000173638 chr21:45531458-45531458;C/T missense_variant False SLC19A1@p.I409T 1 0.25 ENSG00000173638 chr21:45525884-45525884;A/G missense_variant False SLC19A1@p.Y136C 1 0.642857143 ENSG00000173638 chr21:45531931-45531931;T/C missense_variant False SLC22A10@p.L486F 1 0.132653061 ENSG00000184999 chr11:63304749-63304749;G/C missense_variant False SLC22A10@p.R89C 1 0.514705882 ENSG00000184999 chr11:63290430-63290430;C/T missense_variant False SLC24A2@p.C153F 1 0.377777778 ENSG00000155886 chr9:19786409-19786409;C/A missense_variant False SLC22A8@p.E505K 1 0.290697674 ENSG00000149452 chr11:62993440-62993440;C/T missense_variant False SLC22A9@p.D537H 1 0.25 ENSG00000149742 chr11:63409809-63409809;G/C missense_variant False SLC22A9@p.D12N 1 0.333333333 ENSG00000149742 chr11:63370090-63370090;G/A missense_variant False SLC22A8@p.V21I 1 0.262068966 ENSG00000149452 chr11:63014898-63014898;C/T missense_variant False SLC22A8@p.S259Y 1 0.361111111 ENSG00000149452 chr11:62996138-62996138;G/T missense_variant False SLC22A8@p.Q89H 1 0.186666667 ENSG00000149452 chr11:63014692-63014692;C/G missense_variant False SLC22A8@p.K515N 1 0.285714286 ENSG00000149452 chr11:62993321-62993321;C/G missense_variant False SLC22A8@p.E288Q 1 0.193548387 ENSG00000149452 chr11:62996052-62996052;C/G missense_variant False SLC22A2@p.L396F 1 0.133333333 ENSG00000112499 chr6:160243665-160243665;G/A missense_variant False SLC22A7@p.R402H 1 0.818181818 ENSG00000137204 chr6:43302343-43302343;G/A missense_variant False SLC22A7@p.Q316R 1 0.175257732 ENSG00000137204 chr6:43301254-43301254;A/G missense_variant False SLC22A6@p.R466P 1 0.151515152 ENSG00000197901 chr11:62977352-62977352;C/G missense_variant False SLC22A4@p.Y399D 1 0.480620155 ENSG00000197208 chr5:132334866-132334866;T/G missense_variant False SLC22A4@p.D536H 1 0.153846154 ENSG00000197208 chr5:132343785-132343785;G/C missense_variant False SLC22A4@p.A250T 1 0.272 ENSG00000197208 chr5:132322279-132322279;G/A missense_variant False SLC22A9@p.L162P 1 0.333333333 ENSG00000149742 chr11:63371217-63371217;T/C missense_variant False SLC23A2@p.F311L 1 0.336206897 ENSG00000089057 chr20:4874588-4874588;G/C missense_variant False SLC23A2@p.G159Vfs*25 1 0.310469314 ENSG00000089057 chr20:4899560-4899561;TC/- frameshift_variant False SLC23A2@p.L554V 1 0.381443299 ENSG00000089057 chr20:4859349-4859349;G/C missense_variant False SLC23A3@p.L51M 1 0.128440367 ENSG00000213901 chr2:219169834-219169834;G/T missense_variant False SLC23A3@p.P199S 1 0.217391304 ENSG00000213901 chr2:219168731-219168731;G/A missense_variant False SLC23A3@p.P22R 1 0.12244898 ENSG00000213901 chr2:219169920-219169920;G/C missense_variant False SLC23A3@p.R148M 1 0.370967742 ENSG00000213901 chr2:219169078-219169078;C/A missense_variant False SLC23A3@p.S207F 1 0.172413793 ENSG00000213901 chr2:219168706-219168706;G/A missense_variant False SLC24A1@p.D1013N 1 0.188405797 ENSG00000074621 chr15:65652795-65652795;G/A missense_variant False SLC24A1@p.G297V 1 0.121212121 ENSG00000074621 chr15:65624970-65624970;G/T missense_variant False SLC24A1@p.I1084M 1 0.255813953 ENSG00000074621 chr15:65654031-65654031;C/G missense_variant False SLC24A1@p.L537Sfs*25 1 0.298076923 ENSG00000074621 chr15:65625686-65625687;-/T frameshift_variant False SLC24A1@p.R1065T 1 0.062068966 ENSG00000074621 chr15:65653973-65653973;G/C missense_variant False SLC24A1@p.S425L 1 0.115789474 ENSG00000074621 chr15:65625354-65625354;C/T missense_variant False SLC24A1@p.S512F 1 0.241758242 ENSG00000074621 chr15:65625615-65625615;C/T missense_variant False SLC24A1@p.W555C 1 0.412698413 ENSG00000074621 chr15:65625745-65625745;G/T missense_variant False SLC22A3@p.F4L 1 0.274509804 ENSG00000146477 chr6:160348431-160348431;C/G missense_variant False SLC22A2@p.I433S 1 0.517241379 ENSG00000112499 chr6:160242384-160242384;A/C missense_variant False SLC22A11@p.I404M 1 0.470588235 ENSG00000168065 chr11:64567752-64567752;C/G missense_variant False SLC22A12@p.M214I 1 0.545454545 ENSG00000197891 chr11:64593540-64593540;G/C missense_variant False SLC22A13@p.R133W 1 0.468468468 ENSG00000172940 chr3:38274290-38274290;C/T missense_variant False SLC22A13@p.L364V 1 0.181818182 ENSG00000172940 chr3:38275949-38275949;C/G missense_variant False SLC22A13@p.I447V 1 0.463917526 ENSG00000172940 chr3:38276388-38276388;A/G missense_variant False SLC22A12@p.T188M 1 0.310810811 ENSG00000197891 chr11:64593461-64593461;C/T missense_variant False SLC22A12@p.S276C 1 0.296296296 ENSG00000197891 chr11:64593800-64593800;C/G missense_variant False SLC22A12@p.S141P 1 0.227272727 ENSG00000197891 chr11:64592797-64592797;T/C missense_variant False SLC22A12@p.L24V 1 0.184615385 ENSG00000197891 chr11:64591626-64591626;C/G missense_variant False SLC22A2@p.G12R 1 0.175438596 ENSG00000112499 chr6:160258724-160258724;C/T missense_variant False SLC22A12@p.L239V 1 0.289473684 ENSG00000197891 chr11:64593688-64593688;C/G missense_variant False SLC22A12@p.H540Y 1 0.25 ENSG00000197891 chr11:64601507-64601507;C/T missense_variant False SLC22A12@p.E110K 1 0.130434783 ENSG00000197891 chr11:64591884-64591884;G/A missense_variant False SLC22A12@p.A160T 1 0.172932331 ENSG00000197891 chr11:64592854-64592854;G/A missense_variant False SLC22A11@p.M477I 1 0.194915254 ENSG00000168065 chr11:64569700-64569700;G/A missense_variant False SLC22A11@p.L296V 1 0.264705882 ENSG00000168065 chr11:64564372-64564372;C/G missense_variant False SLC22A14@p.L20S 1 0.497142857 ENSG00000144671 chr3:38306085-38306085;T/C missense_variant False SLC22A16@p.A202S 1 0.122222222 ENSG00000004809 chr6:110446920-110446920;C/A missense_variant False SLC22A16@p.G93D 1 0.407079646 ENSG00000004809 chr6:110456793-110456793;C/T missense_variant False SLC22A16@p.S110W 1 0.276190476 ENSG00000004809 chr6:110456742-110456742;G/C missense_variant False SLC22A16@p.V184I 1 0.358974359 ENSG00000004809 chr6:110446974-110446974;C/T missense_variant False SLC22A18@p.S371F 1 0.24 ENSG00000110628 chr11:2925034-2925034;C/T missense_variant False SLC22A1@p.E323K 1 0.452173913 ENSG00000175003 chr6:160136556-160136556;G/A missense_variant False SLC22A1@p.L360_L364del 1 0.408163265 ENSG00000175003 chr6:160139667-160139681;TGCTCTATCAGGGGC/- inframe_deletion False SLC22A23@p.E590K 1 0.046875 ENSG00000137266 chr6:3273348-3273348;C/T missense_variant False SLC22A23@p.M545L 1 0.466666667 ENSG00000137266 chr6:3283922-3283922;T/A missense_variant False SLC22A23@p.S507L 1 0.333333333 ENSG00000137266 chr6:3286885-3286885;G/A missense_variant False SLC22A25@p.D313H 1 0.349315068 ENSG00000196600 chr11:63183711-63183711;C/G missense_variant False SLC22A25@p.E223Q 1 0.418604651 ENSG00000196600 chr11:63217477-63217477;C/G missense_variant False SLC22A25@p.F204L 1 0.172413793 ENSG00000196600 chr11:63217630-63217630;G/T missense_variant False SLC22A25@p.R177T 1 0.216216216 ENSG00000196600 chr11:63217712-63217712;C/G missense_variant False SLC22A25@p.S146A 1 0.340425532 ENSG00000196600 chr11:63228531-63228531;A/C missense_variant False SLC22A2@p.E527K 1 0.085714286 ENSG00000112499 chr6:160224727-160224727;C/T missense_variant False SLC26A8@p.P551T 1 0.447368421 ENSG00000112053 chr6:35959794-35959794;G/T missense_variant False SLC26A8@p.S183L 1 0.206896552 ENSG00000112053 chr6:35997817-35997817;G/A missense_variant False SLC17A3@p.L129S 1 0.268817204 ENSG00000124564 chr6:25861629-25861629;A/G missense_variant False SLC35C2@p.F127L 1 0.289473684 ENSG00000080189 chr20:46355829-46355829;G/C missense_variant False SLC35D3@p.E391Q 1 0.148148148 ENSG00000182747 chr6:136924616-136924616;G/C missense_variant False SLC35D1@p.T136S 1 0.222222222 ENSG00000116704 chr1:67050491-67050491;T/A missense_variant False SLC35D1@p.S71F 1 0.5 ENSG00000116704 chr1:67052981-67052981;G/A missense_variant False SLC35C2@p.G334D 1 0.477777778 ENSG00000080189 chr20:46350491-46350491;C/T missense_variant False SLC35C2@p.G2A 1 0.11627907 ENSG00000080189 chr20:46358502-46358502;C/G missense_variant False SLC35C2@p.F59L 1 0.264705882 ENSG00000080189 chr20:46357717-46357717;G/C missense_variant False SLC35C1@p.Y233C 1 0.3 ENSG00000181830 chr11:45810938-45810938;A/G missense_variant False SLC35E3@p.W34S 1 0.041450777 ENSG00000175782 chr12:68746478-68746478;G/C missense_variant False SLC35B4@p.E51A 1 0.428571429 ENSG00000205060 chr7:134309405-134309405;T/G missense_variant False SLC35B3@p.L317F 1 0.406504065 ENSG00000124786 chr6:8416918-8416918;C/G missense_variant False SLC35B3@p.G165C 1 0.204301075 ENSG00000124786 chr6:8422551-8422551;C/A missense_variant False SLC35B2@p.V223L 1 0.37037037 ENSG00000157593 chr6:44255338-44255338;C/G missense_variant False SLC35B2@p.P86S 1 0.126436782 ENSG00000157593 chr6:44256446-44256446;G/A missense_variant False SLC35B2@p.K296Vfs*39 1 0.114754098 ENSG00000157593 chr6:44255115-44255119;ATCTT/- frameshift_variant False SLC35D3@p.G286D 1 0.138888889 ENSG00000182747 chr6:136924302-136924302;G/A missense_variant False SLC35E4@p.R48P 1 0.3 ENSG00000100036 chr22:30636593-30636593;G/C missense_variant False SLC26A8@p.S509L 1 0.259259259 ENSG00000112053 chr6:35961035-35961035;G/A missense_variant False SLC35F3@p.F98S 1 0.119760479 ENSG00000183780 chr1:234231633-234231633;T/C missense_variant False SLC35F5@p.G367R 1 0.365079365 ENSG00000115084 chr2:113725529-113725529;C/G missense_variant False SLC35F4@p.T460I 1 0.52173913 ENSG00000151812 chr14:57564322-57564322;G/A missense_variant False SLC35F4@p.L291F 1 0.3 ENSG00000151812 chr14:57581256-57581256;C/A missense_variant False SLC35F4@p.I187S 1 0.181818182 ENSG00000151812 chr14:57589351-57589351;A/C missense_variant False SLC35F4@p.D498N 1 0.2 ENSG00000151812 chr14:57564209-57564209;C/T missense_variant False SLC35F3@p.K393N 1 0.4 ENSG00000183780 chr1:234323156-234323156;G/C missense_variant False SLC35F3@p.E38K 1 0.264705882 ENSG00000183780 chr1:234231452-234231452;G/A missense_variant False SLC35E4@p.R96Q 1 0.8125 ENSG00000100036 chr22:30636737-30636737;G/A missense_variant False SLC35F3@p.D201N 1 0.0625 ENSG00000183780 chr1:234309300-234309300;G/A missense_variant False SLC35F3@p.A87T 1 0.377906977 ENSG00000183780 chr1:234231599-234231599;G/A missense_variant False SLC35F2@p.R161K 1 0.147826087 ENSG00000110660 chr11:107806809-107806809;C/T missense_variant False SLC35F1@p.R371C 1 0.347058824 ENSG00000196376 chr6:118314136-118314136;C/T missense_variant False SLC35E4@p.S280F 1 0.260869565 ENSG00000100036 chr22:30646817-30646817;C/T missense_variant False SLC35E4@p.S252C 1 0.213114754 ENSG00000100036 chr22:30646733-30646733;C/G missense_variant False SLC35B1@p.Y208C 1 0.226890756 ENSG00000121073 chr17:49705140-49705140;T/C missense_variant False SLC35B1@p.S307C 1 0.066666667 ENSG00000121073 chr17:49702965-49702965;G/C missense_variant False SLC35B1@p.Q83K 1 0.121568627 ENSG00000121073 chr17:49707037-49707037;G/T missense_variant False SLC32A1@p.E39K 1 0.114285714 ENSG00000101438 chr20:38724839-38724839;G/A missense_variant False SLC32A1@p.L485V 1 0.283333333 ENSG00000101438 chr20:38728514-38728514;C/G missense_variant False SLC32A1@p.K407R 1 0.12345679 ENSG00000101438 chr20:38728281-38728281;A/G missense_variant False SLC32A1@p.I516M 1 0.571428571 ENSG00000101438 chr20:38728609-38728609;C/G missense_variant False SLC32A1@p.I116M 1 0.218181818 ENSG00000101438 chr20:38725072-38725072;C/G missense_variant False SLC32A1@p.E80K 1 0.2 ENSG00000101438 chr20:38724962-38724962;G/A missense_variant False SLC32A1@p.E76K 1 0.358974359 ENSG00000101438 chr20:38724950-38724950;G/A missense_variant False SLC32A1@p.E107K 1 0.09929078 ENSG00000101438 chr20:38725043-38725043;G/A missense_variant False SLC35A5@p.P355A 1 0.142857143 ENSG00000138459 chr3:112581180-112581180;C/G missense_variant False SLC31A1@p.M9I 1 0.142857143 ENSG00000136868 chr9:113256175-113256175;G/T missense_variant False SLC30A9@p.R24Q 1 0.448275862 ENSG00000014824 chr4:41990722-41990722;G/A missense_variant False SLC30A9@p.K234E 1 0.105263158 ENSG00000014824 chr4:42039016-42039016;A/G missense_variant False SLC30A9@p.I211M 1 0.283185841 ENSG00000014824 chr4:42035297-42035297;A/G missense_variant False SLC30A8@p.Q350E 1 0.274038462 ENSG00000164756 chr8:117172619-117172619;C/G missense_variant False SLC30A8@p.K71R 1 0.18902439 ENSG00000164756 chr8:117147094-117147094;A/G missense_variant False SLC32A1@p.P94L 1 0.222222222 ENSG00000101438 chr20:38725005-38725005;C/T missense_variant False SLC32A1@p.S393Y 1 0.295454545 ENSG00000101438 chr20:38728239-38728239;C/A missense_variant False SLC32A1@p.V349M 1 0.305555556 ENSG00000101438 chr20:38728106-38728106;G/A missense_variant False SLC32A1@p.Y317C 1 0.22972973 ENSG00000101438 chr20:38728011-38728011;A/G missense_variant False SLC33A1@p.H39Y 1 0.261904762 ENSG00000169359 chr3:155853883-155853883;G/A missense_variant False SLC33A1@p.S42L 1 0.176470588 ENSG00000169359 chr3:155853873-155853873;G/A missense_variant False SLC34A1@p.E272D 1 0.745454545 ENSG00000131183 chr5:177388165-177388165;G/T missense_variant False SLC34A1@p.R249Q 1 0.268656716 ENSG00000131183 chr5:177388095-177388095;G/A missense_variant False SLC34A2@p.E65K 1 0.615384615 ENSG00000157765 chr4:25662785-25662785;G/A missense_variant False SLC34A2@p.S32I 1 0.504065041 ENSG00000157765 chr4:25662595-25662595;G/T missense_variant False SLC34A2@p.T543S 1 0.395348837 ENSG00000157765 chr4:25676303-25676303;A/T missense_variant False SLC34A3@p.L15V 1 0.102150538 ENSG00000198569 chr9:137231745-137231745;C/G missense_variant False SLC34A3@p.P35T 1 0.247191011 ENSG00000198569 chr9:137232089-137232089;C/A missense_variant False SLC34A3@p.R68C 1 0.52238806 ENSG00000198569 chr9:137232601-137232601;C/T missense_variant False SLC35A1@p.Q101E 1 0.560606061 ENSG00000164414 chr6:87500614-87500614;C/G missense_variant False SLC35A4@p.S294L 1 0.267605634 ENSG00000176087 chr5:140568050-140568050;C/T missense_variant False SLC35A4@p.Y320C 1 0.071428571 ENSG00000176087 chr5:140568128-140568128;A/G missense_variant False SLC35F6@p.Q75K 1 0.260869565 ENSG00000213699 chr2:26775116-26775116;C/A missense_variant False SLC35G2@p.I278M 1 0.46366782 ENSG00000168917 chr3:136855294-136855294;C/G missense_variant False SLC35G2@p.I372M 1 0.170103093 ENSG00000168917 chr3:136855576-136855576;C/G missense_variant False SLC38A2@p.R213K 1 0.413333333 ENSG00000134294 chr12:46365115-46365115;C/T missense_variant False SLC38A3@p.S120T 1 0.14893617 ENSG00000188338 chr3:50215444-50215444;T/A missense_variant False SLC38A3@p.I114T 1 0.355140187 ENSG00000188338 chr3:50215427-50215427;T/C missense_variant False SLC38A3@p.E302K 1 0.318181818 ENSG00000188338 chr3:50217965-50217965;G/A missense_variant False SLC38A3@p.E130K 1 0.068493151 ENSG00000188338 chr3:50215558-50215558;G/A missense_variant False SLC38A2@p.S72Pfs*9 1 0.313953488 ENSG00000134294 chr12:46370612-46370612;A/- frameshift_variant False SLC38A2@p.S17N 1 0.204819277 ENSG00000134294 chr12:46371244-46371244;C/T missense_variant False SLC38A2@p.M96T 1 0.315217391 ENSG00000134294 chr12:46370539-46370539;A/G missense_variant False SLC38A1@p.E185Q 1 0.1875 ENSG00000111371 chr12:46207165-46207165;C/G missense_variant False SLC38A2@p.M325I 1 0.238095238 ENSG00000134294 chr12:46363805-46363805;C/T missense_variant False SLC38A2@p.L453I 1 0.333333333 ENSG00000134294 chr12:46362349-46362349;G/T missense_variant False SLC38A2@p.G88E 1 0.38372093 ENSG00000134294 chr12:46370563-46370563;C/T missense_variant False SLC38A2@p.F332C 1 0.456140351 ENSG00000134294 chr12:46363785-46363785;A/C missense_variant False SLC38A2@p.F288L 1 0.387096774 ENSG00000134294 chr12:46364398-46364398;G/T missense_variant False SLC38A2@p.A342Cfs*14 1 0.423913043 ENSG00000134294 chr12:46363756-46363757;-/A frameshift_variant False SLC38A4@p.D540V 1 0.210526316 ENSG00000139209 chr12:46766726-46766726;T/A missense_variant False SLC38A4@p.Q246R 1 0.538461538 ENSG00000139209 chr12:46778757-46778757;T/C missense_variant False SLC38A6@p.A125E 1 0.289156627 ENSG00000139974 chr14:61019551-61019551;C/A missense_variant False SLC38A7@p.T127A 1 0.414634146 ENSG00000103042 chr16:58678786-58678786;T/C missense_variant False SLC38A8@p.A362T 1 0.268292683 ENSG00000166558 chr16:84016597-84016597;C/T missense_variant False SLC38A8@p.G54E 1 0.108333333 ENSG00000166558 chr16:84041997-84041997;C/T missense_variant False SLC38A9@p.G115S 1 0.268292683 ENSG00000177058 chr5:55669783-55669783;C/T missense_variant False SLC38A9@p.G492R 1 0.533333333 ENSG00000177058 chr5:55627937-55627937;C/T missense_variant False SLC38A9@p.M451I 1 0.357142857 ENSG00000177058 chr5:55633831-55633831;C/T missense_variant False SLC39A10@p.D660N 1 0.170212766 ENSG00000196950 chr2:195716918-195716918;G/A missense_variant False SLC39A10@p.G786S 1 0.362745098 ENSG00000196950 chr2:195734901-195734901;G/A missense_variant False SLC39A10@p.H277D 1 0.102941176 ENSG00000196950 chr2:195680871-195680871;C/G missense_variant False SLC39A10@p.S323Ffs*2 1 0.272727273 ENSG00000196950 chr2:195681010-195681010;C/- frameshift_variant False SLC39A11@p.G340C 1 0.126984127 ENSG00000133195 chr17:72647595-72647595;C/A missense_variant False SLC39A12@p.C85Y 1 0.311827957 ENSG00000148482 chr10:17953530-17953530;G/A missense_variant False SLC39A12@p.F614S 1 0.394190871 ENSG00000148482 chr10:18003252-18003252;T/C missense_variant False SLC39A12@p.G457E 1 0.387096774 ENSG00000148482 chr10:17991251-17991251;G/A missense_variant False SLC38A1@p.P248A 1 0.171428571 ENSG00000111371 chr12:46204381-46204381;G/C missense_variant False SLC38A10@p.V463M 1 0.15625 ENSG00000157637 chr17:81253142-81253142;C/T missense_variant False SLC35G3@p.L180I 1 0.074941452 ENSG00000164729 chr17:35193770-35193770;G/T missense_variant False SLC35G6@p.Q152Vfs*13 1 0.568965517 ENSG00000259224 chr17:7482438-7482447;CAGGGTCTCA/- frameshift_variant False SLC36A3@p.S335C 1 0.2375 ENSG00000186334 chr5:151281154-151281154;G/C missense_variant False SLC36A3@p.E363Q 1 0.160714286 ENSG00000186334 chr5:151281071-151281071;C/G missense_variant False SLC36A3@p.D16N 1 0.16 ENSG00000186334 chr5:151303309-151303309;C/T missense_variant False SLC36A2@p.E465K 1 0.151515152 ENSG00000186335 chr5:151316876-151316876;C/T missense_variant False SLC36A2@p.E363K 1 0.265957447 ENSG00000186335 chr5:151322139-151322139;C/T missense_variant False SLC36A1@p.E27K 1 0.125 ENSG00000123643 chr5:151458871-151458871;G/A missense_variant False SLC35G6@p.G96E 1 0.202586207 ENSG00000259224 chr17:7482271-7482271;G/A missense_variant False SLC38A10@p.S280L 1 0.1 ENSG00000157637 chr17:81276042-81276042;G/A missense_variant False SLC35G5@p.P247L 1 0.421052632 ENSG00000177710 chr8:11331846-11331846;C/T missense_variant False SLC35G3@p.S308F 1 0.035335689 ENSG00000164729 chr17:35193385-35193385;G/A missense_variant False SLC35G3@p.S137Y 1 0.202898551 ENSG00000164729 chr17:35193898-35193898;G/T missense_variant False SLC35G3@p.R59C 1 0.383561644 ENSG00000164729 chr17:35194133-35194133;G/A missense_variant False SLC35G3@p.R26S 1 0.087248322 ENSG00000164729 chr17:35194232-35194232;G/T missense_variant False SLC35G3@p.P126S 1 0.378277154 ENSG00000164729 chr17:35193932-35193932;G/A missense_variant False SLC36A3@p.S372P 1 0.431818182 ENSG00000186334 chr5:151281044-151281044;A/G missense_variant False SLC36A3@p.V77A 1 0.16 ENSG00000186334 chr5:151296258-151296258;A/G missense_variant False SLC36A4@p.S103Y 1 0.444444444 ENSG00000180773 chr11:93182857-93182857;G/T missense_variant False SLC36A4@p.S95T 1 0.464912281 ENSG00000180773 chr11:93182881-93182881;C/G missense_variant False SLC37A1@p.L191F 1 0.077294686 ENSG00000160190 chr21:42543445-42543445;G/C missense_variant False SLC37A1@p.S412F 1 0.533333333 ENSG00000160190 chr21:42565840-42565840;C/T missense_variant False SLC37A2@p.G440S 1 0.217391304 ENSG00000134955 chr11:125085464-125085464;G/A missense_variant False SLC37A2@p.L315I 1 0.378947368 ENSG00000134955 chr11:125082301-125082301;C/A missense_variant False SLC37A3@p.E246V 1 0.072164948 ENSG00000157800 chr7:140351418-140351418;T/A missense_variant False SLC37A3@p.F138L 1 0.091836735 ENSG00000157800 chr7:140358747-140358747;G/C missense_variant False SLC37A3@p.P160H 1 0.431472081 ENSG00000157800 chr7:140358682-140358682;G/T missense_variant False SLC37A3@p.S446F 1 0.36 ENSG00000157800 chr7:140337339-140337339;G/A missense_variant False SLC37A3@p.S49F 1 0.268292683 ENSG00000157800 chr7:140380334-140380334;G/A missense_variant False SLC38A10@p.E657K 1 0.5 ENSG00000157637 chr17:81251589-81251589;C/T missense_variant False SLC38A10@p.G1004W 1 0.391304348 ENSG00000157637 chr17:81245906-81245906;C/A missense_variant False SLC38A10@p.G629V 1 0.214285714 ENSG00000157637 chr17:81252254-81252254;C/A missense_variant False SLC38A10@p.H51Y 1 0.296296296 ENSG00000157637 chr17:81289757-81289757;G/A missense_variant False SLC30A8@p.C364F 1 0.103174603 ENSG00000164756 chr8:117172662-117172662;G/T missense_variant False SLC30A7@p.S271L 1 0.162436548 ENSG00000162695 chr1:100921811-100921811;C/T missense_variant False SLC30A7@p.L277V 1 0.136842105 ENSG00000162695 chr1:100921828-100921828;C/G missense_variant False SLC28A2@p.E139K 1 0.183673469 ENSG00000137860 chr15:45263213-45263213;G/A missense_variant False SLC28A3@p.N28D 1 0.465753425 ENSG00000197506 chr9:84313433-84313433;T/C missense_variant False SLC28A3@p.H126Y 1 0.266666667 ENSG00000197506 chr9:84302348-84302348;G/A missense_variant False SLC28A3@p.G373E 1 0.175 ENSG00000197506 chr9:84290185-84290185;C/T missense_variant False SLC28A3@p.E277K 1 0.556603774 ENSG00000197506 chr9:84297253-84297253;C/T missense_variant False SLC28A2@p.R524T 1 0.207792208 ENSG00000137860 chr15:45270199-45270199;G/C missense_variant False SLC28A2@p.K505I 1 0.357142857 ENSG00000137860 chr15:45269483-45269483;A/T missense_variant False SLC28A2@p.A90V 1 0.357142857 ENSG00000137860 chr15:45263067-45263067;C/T missense_variant False SLC27A5@p.M539Wfs*63 1 0.371794872 ENSG00000083807 chr19:58499545-58499545;G/- frameshift_variant False SLC27A6@p.S369Y 1 0.437086093 ENSG00000113396 chr5:129016021-129016021;C/A missense_variant False SLC27A6@p.Q238E 1 0.655555556 ENSG00000113396 chr5:128988626-128988626;C/G missense_variant False SLC27A6@p.M564K 1 0.214285714 ENSG00000113396 chr5:129033113-129033113;T/A missense_variant False SLC27A6@p.K290T 1 0.373134328 ENSG00000113396 chr5:128990364-128990364;A/C missense_variant False SLC27A6@p.E495K 1 0.591836735 ENSG00000113396 chr5:129028373-129028373;G/A missense_variant False SLC27A5@p.W557Cfs*19 1 0.322580645 ENSG00000083807 chr19:58499201-58499217;ACACGTTCTCGCCCTTC/- frameshift_variant False SLC28A3@p.R127K 1 0.630434783 ENSG00000197506 chr9:84302344-84302344;C/T missense_variant False SLC28A3@p.S462Y 1 0.379310345 ENSG00000197506 chr9:84286007-84286007;G/T missense_variant False SLC29A1@p.A319T 1 0.411764706 ENSG00000112759 chr6:44232088-44232088;G/A missense_variant False SLC29A1@p.G225D 1 0.225 ENSG00000112759 chr6:44230652-44230652;G/A missense_variant False SLC29A1@p.H103R 1 0.28 ENSG00000112759 chr6:44229785-44229785;A/G missense_variant False SLC29A1@p.R42H 1 0.178571429 ENSG00000112759 chr6:44229602-44229602;G/A missense_variant False SLC29A1@p.V14L 1 0.661290323 ENSG00000112759 chr6:44229400-44229400;G/C missense_variant False SLC29A1@p.V422L 1 0.237837838 ENSG00000112759 chr6:44233421-44233421;G/C missense_variant False SLC29A2@p.E265Q 1 0.328125 ENSG00000174669 chr11:66366505-66366505;C/G missense_variant False SLC29A2@p.F390L 1 0.375 ENSG00000174669 chr11:66364314-66364314;G/C missense_variant False SLC29A2@p.I331M 1 0.107142857 ENSG00000174669 chr11:66366002-66366002;G/C missense_variant False SLC29A2@p.Q276E 1 0.152777778 ENSG00000174669 chr11:66366472-66366472;G/C missense_variant False SLC29A2@p.Q382H 1 0.172413793 ENSG00000174669 chr11:66364338-66364338;C/G missense_variant False SLC29A2@p.S157Y 1 0.344827586 ENSG00000174669 chr11:66368617-66368617;G/T missense_variant False SLC29A2@p.S443F 1 0.3 ENSG00000174669 chr11:66363479-66363479;G/A missense_variant False SLC29A3@p.D8N 1 0.2109375 ENSG00000198246 chr10:71322776-71322776;G/A missense_variant False SLC29A3@p.G450A 1 0.46875 ENSG00000198246 chr10:71362529-71362529;G/C missense_variant False SLC27A5@p.P425S 1 0.426966292 ENSG00000083807 chr19:58500616-58500616;G/A missense_variant False SLC27A5@p.I392T 1 0.093137255 ENSG00000083807 chr19:58501293-58501293;A/G missense_variant False SLC29A4@p.D65N 1 0.315789474 ENSG00000164638 chr7:5290755-5290755;G/A missense_variant False SLC27A1@p.G197W 1 0.257575758 ENSG00000130304 chr19:17487200-17487200;G/T missense_variant False SLC27A2@p.D300N 1 0.066666667 ENSG00000140284 chr15:50205289-50205289;G/A missense_variant False SLC27A2@p.D192Y 1 0.41025641 ENSG00000140284 chr15:50197595-50197595;G/T missense_variant False SLC27A2@p.C106S 1 0.449438202 ENSG00000140284 chr15:50182743-50182743;T/A missense_variant False SLC27A1@p.S228F 1 0.166666667 ENSG00000130304 chr19:17487294-17487294;C/T missense_variant False SLC27A1@p.P418L 1 0.105263158 ENSG00000130304 chr19:17500324-17500324;C/T missense_variant False SLC27A1@p.L646V 1 0.166666667 ENSG00000130304 chr19:17504607-17504607;C/G missense_variant False SLC26A9@p.S392C 1 0.179104478 ENSG00000174502 chr1:205927532-205927532;G/C missense_variant False SLC27A5@p.E566K 1 0.173913043 ENSG00000083807 chr19:58499192-58499192;C/T missense_variant False SLC26A9@p.S16C 1 0.70754717 ENSG00000174502 chr1:205935774-205935774;G/C missense_variant False SLC26A9@p.M577I 1 0.180555556 ENSG00000174502 chr1:205923124-205923124;C/T missense_variant False SLC26A9@p.K68E 1 0.210526316 ENSG00000174502 chr1:205933008-205933008;T/C missense_variant False SLC26A9@p.G54E 1 0.129032258 ENSG00000174502 chr1:205933049-205933049;C/T missense_variant False SLC26A9@p.E201K 1 0.604651163 ENSG00000174502 chr1:205930008-205930008;C/T missense_variant False SLC26A9@p.D451A 1 0.117021277 ENSG00000174502 chr1:205926572-205926572;T/G missense_variant False SLC27A2@p.E446D 1 0.44 ENSG00000140284 chr15:50227059-50227059;G/C missense_variant False SLC27A2@p.E533Q 1 0.142857143 ENSG00000140284 chr15:50233909-50233909;G/C missense_variant False SLC27A2@p.F147L 1 0.071942446 ENSG00000140284 chr15:50182868-50182868;C/G missense_variant False SLC27A2@p.G151R 1 0.306733167 ENSG00000140284 chr15:50182878-50182878;G/A missense_variant False SLC27A2@p.K403N 1 0.26875 ENSG00000140284 chr15:50226029-50226029;A/T missense_variant False SLC27A2@p.L79Hfs*34 1 0.205479452 ENSG00000140284 chr15:50182660-50182661;CT/- frameshift_variant False SLC27A2@p.T495I 1 0.344827586 ENSG00000140284 chr15:50228971-50228971;C/T missense_variant False SLC27A3@p.A262V 1 0.114285714 ENSG00000143554 chr1:153775898-153775898;C/T missense_variant False SLC27A3@p.E687K 1 0.353233831 ENSG00000143554 chr1:153779142-153779142;G/A missense_variant False SLC27A3@p.E739Q 1 0.288461538 ENSG00000143554 chr1:153779429-153779429;G/C missense_variant False SLC27A3@p.G264E 1 0.285714286 ENSG00000143554 chr1:153775904-153775904;G/A missense_variant False SLC27A3@p.G614R 1 0.358974359 ENSG00000143554 chr1:153778695-153778695;G/A missense_variant False SLC27A3@p.P263S 1 0.677419355 ENSG00000143554 chr1:153775900-153775900;C/T missense_variant False SLC27A4@p.E382Q 1 0.234375 ENSG00000167114 chr9:128353181-128353181;G/C missense_variant False SLC27A4@p.P444L 1 0.181818182 ENSG00000167114 chr9:128355059-128355059;C/T missense_variant False SLC27A4@p.S317Y 1 0.216666667 ENSG00000167114 chr9:128352710-128352710;C/A missense_variant False SLC27A5@p.D398N 1 0.409090909 ENSG00000083807 chr19:58500697-58500697;C/T missense_variant False SLC29A3@p.M195I 1 0.40625 ENSG00000198246 chr10:71351763-71351763;G/C missense_variant False SLC29A4@p.M108I 1 0.092592593 ENSG00000164638 chr7:5291146-5291146;G/C missense_variant False SLC30A7@p.I6M 1 0.115384615 ENSG00000162695 chr1:100896280-100896280;C/G missense_variant False SLC2A7@p.I191M 1 0.307692308 ENSG00000197241 chr1:9018239-9018239;G/C missense_variant False SLC30A10@p.L387F 1 0.15 ENSG00000196660 chr1:219915746-219915746;C/A missense_variant False SLC2A9@p.S283F 1 0.25 ENSG00000109667 chr4:9920539-9920539;G/A missense_variant False SLC2A9@p.I85M 1 0.155555556 ENSG00000109667 chr4:9996936-9996936;G/C missense_variant False SLC2A9@p.I493M 1 0.745454545 ENSG00000109667 chr4:9826541-9826541;G/C missense_variant False SLC2A8@p.T281S 1 0.32 ENSG00000136856 chr9:127403778-127403778;C/G missense_variant False SLC2A7@p.P467L 1 0.132352941 ENSG00000197241 chr1:9003439-9003439;G/A missense_variant False SLC2A7@p.E491K 1 0.11827957 ENSG00000197241 chr1:9003368-9003368;C/T missense_variant False SLC2A4@p.V455F 1 0.479069767 ENSG00000181856 chr17:7286462-7286462;G/T missense_variant False SLC2A6@p.E228K 1 0.214285714 ENSG00000160326 chr9:133475492-133475492;C/T missense_variant False SLC2A6@p.E159K 1 0.705882353 ENSG00000160326 chr9:133476324-133476324;C/T missense_variant False SLC2A5@p.R238C 1 0.427083333 ENSG00000142583 chr1:9039973-9039973;G/A missense_variant False SLC2A5@p.R120G 1 0.440789474 ENSG00000142583 chr1:9047670-9047670;T/C missense_variant False SLC2A5@p.A154V 1 0.285714286 ENSG00000142583 chr1:9041895-9041895;G/A missense_variant False SLC2A4RG@p.R361Q 1 0.105263158 ENSG00000125520 chr20:63742908-63742908;G/A missense_variant False SLC30A10@p.R150C 1 0.454545455 ENSG00000196660 chr1:219927993-219927993;G/A missense_variant False SLC30A1@p.R164C 1 0.166666667 ENSG00000170385 chr1:211578123-211578123;G/A missense_variant False SLC30A1@p.R76Q 1 0.347826087 ENSG00000170385 chr1:211578386-211578386;C/T missense_variant False SLC30A1@p.V369Afs*9 1 0.367924528 ENSG00000170385 chr1:211575773-211575806;CTTCCAGCAAGTTGCCAAACATGTAATTCATGAA/- frameshift_variant False SLC30A2@p.K66N 1 0.454225352 ENSG00000158014 chr1:26045070-26045070;C/A missense_variant False SLC30A2@p.S78C 1 0.272727273 ENSG00000158014 chr1:26045035-26045035;G/C missense_variant False SLC30A3@p.G114C 1 0.375 ENSG00000115194 chr2:27258245-27258245;C/A missense_variant False SLC30A3@p.G211E 1 0.217391304 ENSG00000115194 chr2:27257299-27257299;C/T missense_variant False SLC30A4@p.E212K 1 0.333333333 ENSG00000104154 chr15:45490786-45490786;C/T missense_variant False SLC30A4@p.R9P 1 0.296296296 ENSG00000104154 chr15:45522329-45522329;C/G missense_variant False SLC30A5@p.D571_S577del 1 0.15625 ENSG00000145740 chr5:69121829-69121849;CACAGTGACCATGGGCATGGT/- inframe_deletion False SLC30A6@p.E165K 1 0.123287671 ENSG00000152683 chr2:32193980-32193980;G/A missense_variant False SLC30A6@p.L206F 1 0.126696833 ENSG00000152683 chr2:32197777-32197777;C/T missense_variant False SLC30A6@p.L237F 1 0.260869565 ENSG00000152683 chr2:32204635-32204635;G/C missense_variant False SLC30A6@p.L413V 1 0.229508197 ENSG00000152683 chr2:32220564-32220564;C/G missense_variant False SLC30A6@p.L85F 1 0.3125 ENSG00000152683 chr2:32184309-32184309;G/C missense_variant False SLC30A6@p.R156G 1 0.259541985 ENSG00000152683 chr2:32193953-32193953;C/G missense_variant False SLC2A4RG@p.L189V 1 0.151515152 ENSG00000125520 chr20:63742042-63742042;C/G missense_variant False SLC2A4@p.P378S 1 0.472972973 ENSG00000181856 chr17:7285714-7285714;C/T missense_variant False SLC29A4@p.R254H 1 0.304347826 ENSG00000164638 chr7:5297077-5297077;G/A missense_variant False SLC2A11@p.E397K 1 0.2 ENSG00000133460 chr22:23884328-23884328;G/A missense_variant False SLC2A14@p.D484Y 1 0.15 ENSG00000173262 chr12:7814429-7814429;C/A missense_variant False SLC2A13@p.Y97D 1 0.75 ENSG00000151229 chr12:40105520-40105520;A/C missense_variant False SLC2A13@p.S200L 1 0.639751553 ENSG00000151229 chr12:40048168-40048168;G/A missense_variant False SLC2A13@p.D293N 1 0.279069767 ENSG00000151229 chr12:40028349-40028349;C/T missense_variant False SLC2A12@p.S256F 1 0.3 ENSG00000146411 chr6:134029058-134029058;G/A missense_variant False SLC2A11@p.N475D 1 0.329787234 ENSG00000133460 chr22:23884781-23884781;A/G missense_variant False SLC2A10@p.S384L 1 0.170731707 ENSG00000197496 chr20:46726187-46726187;C/T missense_variant False SLC2A4@p.M158T 1 0.4 ENSG00000181856 chr17:7283998-7283998;T/C missense_variant False SLC2A10@p.R446K 1 0.252631579 ENSG00000197496 chr20:46726912-46726912;G/A missense_variant False SLC2A10@p.M307I 1 0.113207547 ENSG00000197496 chr20:46725957-46725957;G/T missense_variant False SLC2A10@p.G146D 1 0.169354839 ENSG00000197496 chr20:46725473-46725473;G/A missense_variant False SLC2A10@p.F222L 1 0.263157895 ENSG00000197496 chr20:46725702-46725702;C/G missense_variant False SLC29A4@p.S238L 1 0.103448276 ENSG00000164638 chr7:5297029-5297029;C/T missense_variant False SLC29A4@p.R480W 1 0.227272727 ENSG00000164638 chr7:5300650-5300650;C/T missense_variant False SLC2A14@p.F471L 1 0.288732394 ENSG00000173262 chr12:7814466-7814466;G/T missense_variant False SLC2A1@p.S148L 1 0.25 ENSG00000117394 chr1:42930699-42930699;G/A missense_variant False SLC2A1@p.S68L 1 0.128571429 ENSG00000117394 chr1:42931118-42931118;G/A missense_variant False SLC2A2@p.A333T 1 0.40625 ENSG00000163581 chr3:171002647-171002647;C/T missense_variant False SLC2A2@p.E178K 1 0.508196721 ENSG00000163581 chr3:171007228-171007228;C/T missense_variant False SLC2A2@p.E252K 1 0.169230769 ENSG00000163581 chr3:171005964-171005964;C/T missense_variant False SLC2A2@p.H151D 1 0.368421053 ENSG00000163581 chr3:171010003-171010003;G/C missense_variant False SLC2A2@p.L231V 1 0.464285714 ENSG00000163581 chr3:171006027-171006027;G/C missense_variant False SLC2A2@p.M276I 1 0.53125 ENSG00000163581 chr3:171005420-171005420;C/G missense_variant False SLC2A2@p.V513I 1 0.427272727 ENSG00000163581 chr3:170997941-170997941;C/T missense_variant False SLC2A3@p.G132V 1 0.266055046 ENSG00000059804 chr12:7931360-7931360;C/A missense_variant False SLC2A3@p.G20D 1 0.066666667 ENSG00000059804 chr12:7933859-7933859;C/T missense_variant False SLC2A3@p.I317M 1 0.098214286 ENSG00000059804 chr12:7925859-7925859;G/C missense_variant False SLC2A3@p.N32K 1 0.073170732 ENSG00000059804 chr12:7933822-7933822;A/T missense_variant False SLC2A3@p.S180Y 1 0.548387097 ENSG00000059804 chr12:7930614-7930614;G/T missense_variant False SLC2A3@p.V117A 1 0.311688312 ENSG00000059804 chr12:7931405-7931405;A/G missense_variant False SLC2A4@p.E491K 1 0.304081633 ENSG00000181856 chr17:7286570-7286570;G/A missense_variant False SLC17A3@p.S126R 1 0.294117647 ENSG00000124564 chr6:25861637-25861637;G/T missense_variant False SLC17A3@p.G272A 1 0.075 ENSG00000124564 chr6:25850122-25850122;C/G missense_variant False SHC1@p.P354A 1 0.705882353 ENSG00000160691 chr1:154966441-154966441;G/C missense_variant False SIGLEC1@p.L1004M 1 0.6 ENSG00000088827 chr20:3694467-3694467;G/T missense_variant False SIGLEC5@p.A469V 1 0.581818182 ENSG00000268500 chr19:51626090-51626090;G/A missense_variant False SIGLEC1@p.V1139I 1 0.296296296 ENSG00000088827 chr20:3693540-3693540;C/T missense_variant False SIGLEC1@p.S469C 1 0.224489796 ENSG00000088827 chr20:3701464-3701464;G/C missense_variant False SIGLEC1@p.S1079L 1 0.574257426 ENSG00000088827 chr20:3694241-3694241;G/A missense_variant False SIGLEC1@p.R1156Q 1 0.095890411 ENSG00000088827 chr20:3693488-3693488;C/T missense_variant False SIGLEC1@p.L1175V 1 0.2 ENSG00000088827 chr20:3693117-3693117;G/C missense_variant False SIGLEC1@p.H959N 1 0.402173913 ENSG00000088827 chr20:3694732-3694732;G/T missense_variant False SIGLEC5@p.M215I 1 0.283018868 ENSG00000268500 chr19:51629413-51629413;C/T missense_variant False SIGLEC1@p.H959D 1 0.634782609 ENSG00000088827 chr20:3694732-3694732;G/C missense_variant False SIGLEC1@p.E855K 1 0.042857143 ENSG00000088827 chr20:3696706-3696706;C/T missense_variant False SIGLEC1@p.E338Q 1 0.514705882 ENSG00000088827 chr20:3703413-3703413;C/G missense_variant False SIGLEC1@p.E200K 1 0.116504854 ENSG00000088827 chr20:3705852-3705852;C/T missense_variant False SIGLEC1@p.E155K 1 0.369047619 ENSG00000088827 chr20:3705987-3705987;C/T missense_variant False SIGLEC12@p.V500G 1 0.384615385 ENSG00000254521 chr19:51497352-51497352;A/C missense_variant False SIGLEC5@p.I457M 1 0.194444444 ENSG00000268500 chr19:51627160-51627160;G/C missense_variant False SIGLEC5@p.S526C 1 0.57037037 ENSG00000268500 chr19:51612310-51612310;G/C missense_variant False SIPA1L2@p.S456C 1 0.111111111 ENSG00000116991 chr1:232513973-232513973;G/C missense_variant False SIGLEC8@p.E404Q 1 0.136125654 ENSG00000105366 chr19:51454254-51454254;C/G missense_variant False SIGLEC9@p.S186Pfs*30 1 0.097222222 ENSG00000129450 chr19:51125731-51125731;T/- frameshift_variant False SIGLEC9@p.P176Lfs*2 1 0.24375 ENSG00000129450 chr19:51125698-51125698;C/- frameshift_variant False SIGLEC8@p.S391L 1 0.216494845 ENSG00000105366 chr19:51454292-51454292;G/A missense_variant False SIGLEC8@p.R329Q 1 0.186046512 ENSG00000105366 chr19:51455483-51455483;C/T missense_variant False SIGLEC8@p.R321G 1 0.12244898 ENSG00000105366 chr19:51455508-51455508;T/C missense_variant False SIGLEC8@p.P460L 1 0.245098039 ENSG00000105366 chr19:51452500-51452500;G/A missense_variant False SIGLEC7@p.V143M 1 0.11 ENSG00000168995 chr19:51142796-51142796;G/A missense_variant False SIGLEC6@p.D420Afs*24 1 0.309352518 ENSG00000105492 chr19:51520181-51520185;CTCAT/- frameshift_variant False SIGLEC7@p.T157N 1 0.41350211 ENSG00000168995 chr19:51144442-51144442;C/A missense_variant False SIGLEC7@p.S413F 1 0.492227979 ENSG00000168995 chr19:51153079-51153079;C/T missense_variant False SIGLEC6@p.V47I 1 0.512820513 ENSG00000105492 chr19:51531448-51531448;C/T missense_variant False SIGLEC6@p.T176M 1 0.172043011 ENSG00000105492 chr19:51530860-51530860;G/A missense_variant False SIGLEC6@p.R29Q 1 0.324324324 ENSG00000105492 chr19:51531501-51531501;C/T missense_variant False SIGLEC6@p.G154W 1 0.117647059 ENSG00000105492 chr19:51530927-51530927;C/A missense_variant False SIGLEC12@p.S325L 1 0.118181818 ENSG00000254521 chr19:51499551-51499551;G/A missense_variant False SIGLEC12@p.S294C 1 0.5 ENSG00000254521 chr19:51499644-51499644;G/C missense_variant False SIGLEC12@p.S183C 1 0.335483871 ENSG00000254521 chr19:51500180-51500180;G/C missense_variant False SIDT1@p.A525S 1 0.166666667 ENSG00000072858 chr3:113608188-113608188;G/T missense_variant False SIDT1@p.W285C 1 0.113043478 ENSG00000072858 chr3:113584717-113584717;G/C missense_variant False SIDT1@p.R419W 1 0.102272727 ENSG00000072858 chr3:113603142-113603142;C/T missense_variant False SIDT1@p.P358A 1 0.084745763 ENSG00000072858 chr3:113601614-113601614;C/G missense_variant False SIDT1@p.N121D 1 0.38372093 ENSG00000072858 chr3:113567556-113567556;A/G missense_variant False SIDT1@p.L702F 1 0.086124402 ENSG00000072858 chr3:113623442-113623442;G/C missense_variant False SIDT1@p.L638V 1 0.117647059 ENSG00000072858 chr3:113612140-113612140;C/G missense_variant False SIAH2@p.M292I 1 0.426829268 ENSG00000181788 chr3:150742240-150742240;C/A missense_variant False SIGLEC12@p.E538K 1 0.127659574 ENSG00000254521 chr19:51491817-51491817;C/T missense_variant False SIAH2@p.G314E 1 0.236111111 ENSG00000181788 chr3:150742175-150742175;C/T missense_variant False SIAH1@p.D169N 1 0.15 ENSG00000196470 chr16:48361924-48361924;C/T missense_variant False SIAE@p.S156F 1 0.310344828 ENSG00000110013 chr11:124654732-124654732;G/A missense_variant False SIAE@p.R20K 1 0.368421053 ENSG00000110013 chr11:124673650-124673650;C/T missense_variant False SI@p.Y1152C 1 0.1 ENSG00000090402 chr3:165018035-165018035;T/C missense_variant False SI@p.W552C 1 0.173333333 ENSG00000090402 chr3:165049186-165049186;C/A missense_variant False SIDT2@p.S804Y 1 0.068111455 ENSG00000149577 chr11:117195890-117195890;C/A missense_variant False SIDT2@p.T167S 1 0.21875 ENSG00000149577 chr11:117182088-117182088;A/T missense_variant False SIGIRR@p.E176K 1 0.75 ENSG00000185187 chr11:407524-407524;C/T missense_variant False SIGIRR@p.I100M 1 0.362318841 ENSG00000185187 chr11:408113-408113;G/C missense_variant False SIGIRR@p.P256H 1 0.090909091 ENSG00000185187 chr11:406955-406955;G/T missense_variant False SIGLEC10@p.A427T 1 0.25 ENSG00000142512 chr19:51415232-51415232;C/T missense_variant False SIGLEC10@p.G421A 1 0.146153846 ENSG00000142512 chr19:51415249-51415249;C/G missense_variant False SIGLEC10@p.L624V 1 0.256410256 ENSG00000142512 chr19:51411323-51411323;G/C missense_variant False SIGLEC10@p.Q26H 1 0.108108108 ENSG00000142512 chr19:51417425-51417425;C/A missense_variant False SIGLEC10@p.Q403K 1 0.151408451 ENSG00000142512 chr19:51415304-51415304;G/T missense_variant False SIGLEC10@p.R324L 1 0.271523179 ENSG00000142512 chr19:51415951-51415951;C/A missense_variant False SIGLEC10@p.R621G 1 0.296296296 ENSG00000142512 chr19:51411332-51411332;G/C missense_variant False SIGLEC10@p.R682Q 1 0.235849057 ENSG00000142512 chr19:51411148-51411148;C/T missense_variant False SIGLEC10@p.V417L 1 0.195652174 ENSG00000142512 chr19:51415262-51415262;C/G missense_variant False SIGLEC11@p.G374E 1 0.514285714 ENSG00000161640 chr19:49958885-49958885;C/T missense_variant False SIGLEC11@p.G560C 1 0.634615385 ENSG00000161640 chr19:49952368-49952368;C/A missense_variant False SIGLEC11@p.Q541H 1 0.322580645 ENSG00000161640 chr19:49958311-49958311;C/G missense_variant False SIGLECL1@p.A151V 1 0.401273885 ENSG00000179213 chr19:51267414-51267414;C/T missense_variant False SIGLECL1@p.P64H 1 0.245901639 ENSG00000179213 chr19:51265536-51265536;C/A missense_variant False SIK2@p.D518Y 1 0.085714286 ENSG00000170145 chr11:111720534-111720534;G/T missense_variant False SINHCAF@p.R102S 1 0.133333333 ENSG00000139146 chr12:31293854-31293854;C/G missense_variant False SIPA1L1@p.E1795K 1 0.273972603 ENSG00000197555 chr14:71739129-71739129;G/A missense_variant False SIPA1L1@p.A1709V 1 0.119266055 ENSG00000197555 chr14:71735331-71735331;C/T missense_variant False SIPA1@p.T64Rfs*112 1 0.166666667 ENSG00000213445 chr11:65641105-65641105;C/- frameshift_variant False SIPA1@p.I435M 1 0.224358974 ENSG00000213445 chr11:65646262-65646262;C/G missense_variant False SIPA1@p.E955Q 1 0.360902256 ENSG00000213445 chr11:65650152-65650152;G/C missense_variant False SIPA1@p.D966N 1 0.23699422 ENSG00000213445 chr11:65650185-65650185;G/A missense_variant False SINHCAF@p.G83R 1 0.111111111 ENSG00000139146 chr12:31293913-31293913;C/T missense_variant False SIN3A@p.Q805E 1 0.171717172 ENSG00000169375 chr15:75392680-75392680;G/C missense_variant False SINHCAF@p.A201V 1 0.125 ENSG00000139146 chr12:31282776-31282776;G/A missense_variant False SIN3B@p.T471M 1 0.4 ENSG00000127511 chr19:16863729-16863729;C/T missense_variant False SIN3B@p.R960H 1 0.382352941 ENSG00000127511 chr19:16876502-16876502;G/A missense_variant False SIN3B@p.R289C 1 0.295454545 ENSG00000127511 chr19:16853084-16853084;C/T missense_variant False SIN3B@p.E1139Q 1 0.125 ENSG00000127511 chr19:16878653-16878653;G/C missense_variant False SIN3A@p.R471Q 1 0.448275862 ENSG00000169375 chr15:75401966-75401966;C/T missense_variant False SIPA1L1@p.E681K 1 0.375 ENSG00000197555 chr14:71658380-71658380;G/A missense_variant False SIPA1L1@p.E889K 1 0.463157895 ENSG00000197555 chr14:71671528-71671528;G/A missense_variant False SIPA1L1@p.E978K 1 0.175438596 ENSG00000197555 chr14:71672450-71672450;G/A missense_variant False SIPA1L1@p.G291A 1 0.346666667 ENSG00000197555 chr14:71588744-71588744;G/C missense_variant False SIPA1L1@p.M1050I 1 0.095744681 ENSG00000197555 chr14:71685407-71685407;G/T missense_variant False SIPA1L1@p.R1582K 1 0.293333333 ENSG00000197555 chr14:71730122-71730122;G/A missense_variant False SIPA1L1@p.S798L 1 0.4 ENSG00000197555 chr14:71671256-71671256;C/T missense_variant False SIPA1L2@p.A1328V 1 0.4 ENSG00000116991 chr1:232439156-232439156;G/A missense_variant False SIPA1L2@p.E1490K 1 0.267857143 ENSG00000116991 chr1:232425751-232425751;C/T missense_variant False SIPA1L2@p.E1629K 1 0.627906977 ENSG00000116991 chr1:232403503-232403503;C/T missense_variant False SIPA1L2@p.E628_T629insM 1 0.173076923 ENSG00000116991 chr1:232483889-232483890;-/ATT inframe_insertion False SIPA1L2@p.K353R 1 0.169642857 ENSG00000116991 chr1:232514282-232514282;T/C missense_variant False SIPA1L2@p.Q1434H 1 0.363636364 ENSG00000116991 chr1:232428519-232428519;C/G missense_variant False SIPA1L2@p.R1012H 1 0.1875 ENSG00000116991 chr1:232460947-232460947;C/T missense_variant False SIPA1L2@p.R514W 1 0.435146444 ENSG00000116991 chr1:232493604-232493604;G/A missense_variant False SIPA1L2@p.R798L 1 0.212765957 ENSG00000116991 chr1:232465267-232465267;C/A missense_variant False SIPA1L2@p.S1341C 1 0.198019802 ENSG00000116991 chr1:232439117-232439117;G/C missense_variant False SIN3A@p.R428C 1 0.12244898 ENSG00000169375 chr15:75409871-75409871;G/A missense_variant False SIN3A@p.Q1208E 1 0.291666667 ENSG00000169375 chr15:75372179-75372179;G/C missense_variant False SIK2@p.E709K 1 0.2375 ENSG00000170145 chr11:111722734-111722734;G/A missense_variant False SIK3@p.Y984C 1 0.41958042 ENSG00000160584 chr11:116858496-116858496;T/C missense_variant False SIM1@p.D590H 1 0.08 ENSG00000112246 chr6:100390894-100390894;C/G missense_variant False SIM1@p.D431E 1 0.306122449 ENSG00000112246 chr6:100393764-100393764;G/T missense_variant False SIM1@p.D413N 1 0.634920635 ENSG00000112246 chr6:100393820-100393820;C/T missense_variant False SIM1@p.D366N 1 0.228571429 ENSG00000112246 chr6:100420861-100420861;C/T missense_variant False SIL1@p.E266K 1 0.510204082 ENSG00000120725 chr5:138951856-138951856;C/T missense_variant False SIKE1@p.E139D 1 0.197183099 ENSG00000052723 chr1:114776451-114776451;C/G missense_variant False SIK3@p.R160L 1 0.624 ENSG00000160584 chr11:116927338-116927338;C/A missense_variant False SIN3A@p.Q100H 1 0.320855615 ENSG00000169375 chr15:75422713-75422713;C/G missense_variant False SIK3@p.L936V 1 0.4784689 ENSG00000160584 chr11:116858641-116858641;G/C missense_variant False SIK3@p.I1193K 1 0.593220339 ENSG00000160584 chr11:116857869-116857869;A/T missense_variant False SIK3@p.D910N 1 0.466666667 ENSG00000160584 chr11:116859284-116859284;C/T missense_variant False SIK3@p.A185S 1 0.055555556 ENSG00000160584 chr11:116927264-116927264;C/A missense_variant False SIK2@p.S257C 1 0.176470588 ENSG00000170145 chr11:111703245-111703245;C/G missense_variant False SIK2@p.L108V 1 0.048 ENSG00000170145 chr11:111688006-111688006;C/G missense_variant False SIM1@p.L592Q 1 0.106666667 ENSG00000112246 chr6:100390887-100390887;A/T missense_variant False SIM1@p.R521S 1 0.267605634 ENSG00000112246 chr6:100393494-100393494;C/G missense_variant False SIM1@p.S31L 1 0.173076923 ENSG00000112246 chr6:100463377-100463377;G/A missense_variant False SIM1@p.S382C 1 0.333333333 ENSG00000112246 chr6:100420812-100420812;G/C missense_variant False SIM2@p.F232L 1 0.345454545 ENSG00000159263 chr21:36726271-36726271;C/G missense_variant False SIM2@p.F234L 1 0.363636364 ENSG00000159263 chr21:36726277-36726277;C/G missense_variant False SIM2@p.S109F 1 0.287878788 ENSG00000159263 chr21:36712600-36712600;C/T missense_variant False SIMC1@p.Q575H 1 0.211309524 ENSG00000170085 chr5:176313738-176313738;G/C missense_variant False SIMC1@p.S152I 1 0.294117647 ENSG00000170085 chr5:176290036-176290036;G/T missense_variant False SIN3A@p.D1090Y 1 0.175675676 ENSG00000169375 chr15:75381633-75381633;C/A missense_variant False SIN3A@p.E513Q 1 0.379310345 ENSG00000169375 chr15:75400930-75400930;C/G missense_variant False SIN3A@p.E540K 1 0.444444444 ENSG00000169375 chr15:75400849-75400849;C/T missense_variant False SIN3A@p.F1169L 1 0.272727273 ENSG00000169375 chr15:75375749-75375749;G/T missense_variant False SIN3A@p.H333R 1 0.121621622 ENSG00000169375 chr15:75411502-75411502;T/C missense_variant False SIN3A@p.I1133V 1 0.226666667 ENSG00000169375 chr15:75375859-75375859;T/C missense_variant False SIN3A@p.K1148N 1 0.230366492 ENSG00000169375 chr15:75375812-75375812;C/G missense_variant False SIN3A@p.N423K 1 0.224719101 ENSG00000169375 chr15:75409884-75409884;A/T missense_variant False SI@p.T850I 1 0.222222222 ENSG00000090402 chr3:165033411-165033411;G/A missense_variant False SI@p.T701S 1 0.042056075 ENSG00000090402 chr3:165040998-165040998;T/A missense_variant False SI@p.R1007T 1 0.135802469 ENSG00000090402 chr3:165023649-165023649;C/G missense_variant False SHKBP1@p.R176Q 1 0.276923077 ENSG00000160410 chr19:40580450-40580450;G/A missense_variant False SHLD2@p.S437T 1 0.142857143 ENSG00000122376 chr10:87152663-87152663;T/A missense_variant False SHLD2@p.S437F 1 0.176470588 ENSG00000122376 chr10:87152664-87152664;C/T missense_variant False SHLD2@p.R767K 1 0.338983051 ENSG00000122376 chr10:87187192-87187192;G/A missense_variant False SHLD1@p.S45Y 1 0.455223881 ENSG00000171984 chr20:5772999-5772999;C/A missense_variant False SHKBP1@p.R657L 1 0.447368421 ENSG00000160410 chr19:40591053-40591053;G/T missense_variant False SHKBP1@p.R34G 1 0.214285714 ENSG00000160410 chr19:40577244-40577244;C/G missense_variant False SHKBP1@p.H285Y 1 0.188976378 ENSG00000160410 chr19:40582359-40582359;C/T missense_variant False SHH@p.E259Q 1 0.333333333 ENSG00000164690 chr7:155803514-155803514;C/G missense_variant False SHKBP1@p.G250E 1 0.1 ENSG00000160410 chr19:40580841-40580841;G/A missense_variant False SHISA5@p.S131C 1 0.127272727 ENSG00000164054 chr3:48469766-48469766;G/C missense_variant False SHISA5@p.P207Q 1 0.344827586 ENSG00000164054 chr3:48469384-48469384;G/T missense_variant False SHISA2@p.V116M 1 0.333333333 ENSG00000180730 chr13:26047055-26047055;C/T missense_variant False SHH@p.S202L 1 0.5 ENSG00000164690 chr7:155803684-155803684;G/A missense_variant False SHH@p.R163H 1 0.434782609 ENSG00000164690 chr7:155806370-155806370;C/T missense_variant False SHMT1@p.D156H 1 0.258333333 ENSG00000176974 chr17:18347549-18347549;C/G missense_variant False SHMT1@p.L396V 1 0.269230769 ENSG00000176974 chr17:18329374-18329374;G/C missense_variant False SHMT2@p.V399M 1 0.368421053 ENSG00000182199 chr12:57233820-57233820;G/A missense_variant False SHOC1@p.C273S 1 0.184210526 ENSG00000165181 chr9:111746303-111746303;C/G missense_variant False SHOC1@p.E1340K 1 0.29787234 ENSG00000165181 chr9:111691767-111691767;C/T missense_variant False SHOC1@p.E243K 1 0.176470588 ENSG00000165181 chr9:111748143-111748143;C/T missense_variant False SHOC1@p.E653Nfs*16 1 0.296296296 ENSG00000165181 chr9:111718270-111718271;TC/- frameshift_variant False SHOC1@p.G230E 1 0.344827586 ENSG00000165181 chr9:111748181-111748181;C/T missense_variant False SHOC1@p.K532N 1 0.17721519 ENSG00000165181 chr9:111727679-111727679;C/A missense_variant False SHOC1@p.L1207V 1 0.15 ENSG00000165181 chr9:111692166-111692166;G/C missense_variant False SHOC1@p.S497L 1 0.285714286 ENSG00000165181 chr9:111727785-111727785;G/A missense_variant False SHOC1@p.Y1217C 1 0.382352941 ENSG00000165181 chr9:111692135-111692135;T/C missense_variant False SHOC2@p.M386I 1 0.5 ENSG00000108061 chr10:111004791-111004791;G/A missense_variant False SHOC2@p.P441S 1 0.148148148 ENSG00000108061 chr10:111009284-111009284;C/T missense_variant False SHOC2@p.Q559E 1 0.382352941 ENSG00000108061 chr10:111011744-111011744;C/G missense_variant False SHOX2@p.A6E 1 0.416666667 ENSG00000168779 chr3:158106008-158106008;G/T missense_variant False SHOX2@p.D13N 1 0.235294118 ENSG00000168779 chr3:158105988-158105988;C/T missense_variant False SHH@p.G169Afs*17 1 0.25 ENSG00000164690 chr7:155806354-155806354;G/- frameshift_variant False SHH@p.E259K 1 0.25 ENSG00000164690 chr7:155803514-155803514;C/T missense_variant False SHOX2@p.N200H 1 0.553571429 ENSG00000168779 chr3:158100269-158100269;T/G missense_variant False SHC4@p.G251C 1 0.231884058 ENSG00000185634 chr15:48884337-48884337;C/A missense_variant False SHCBP1@p.K528R 1 0.320855615 ENSG00000171241 chr16:46583626-46583626;T/C missense_variant False SHCBP1@p.G435V 1 0.44 ENSG00000171241 chr16:46599872-46599872;C/A missense_variant False SHCBP1@p.E609K 1 0.357142857 ENSG00000171241 chr16:46581923-46581923;C/T missense_variant False SHCBP1@p.E107K 1 0.375 ENSG00000171241 chr16:46617702-46617702;C/T missense_variant False SHC4@p.P623A 1 0.256880734 ENSG00000185634 chr15:48825997-48825997;G/C missense_variant False SHC4@p.H372Y 1 0.28125 ENSG00000185634 chr15:48856081-48856081;G/A missense_variant False SHC4@p.F19L 1 0.759398496 ENSG00000185634 chr15:48962959-48962959;G/T missense_variant False SHH@p.E256Afs*63 1 0.4 ENSG00000164690 chr7:155803512-155803522;CTCCCGCGTCT/- frameshift_variant False SHC3@p.A195V 1 0.436619718 ENSG00000148082 chr9:89077865-89077865;G/A missense_variant False SHC2@p.T238M 1 0.333333333 ENSG00000129946 chr19:438725-438725;G/A missense_variant False SHC2@p.Q560H 1 0.428571429 ENSG00000129946 chr19:418997-418997;C/G missense_variant False SHC2@p.E330K 1 0.354545455 ENSG00000129946 chr19:434831-434831;C/T missense_variant False SHC2@p.A253V 1 0.272727273 ENSG00000129946 chr19:436646-436646;G/A missense_variant False SHC1@p.P55L 1 0.085470085 ENSG00000160691 chr1:154970363-154970363;G/A missense_variant False SHCBP1@p.R229G 1 0.173076923 ENSG00000171241 chr16:46608301-46608301;T/C missense_variant False SHCBP1L@p.D620N 1 0.321428571 ENSG00000157060 chr1:182900087-182900087;C/T missense_variant False SHCBP1L@p.E101D 1 0.323529412 ENSG00000157060 chr1:182952831-182952831;C/G missense_variant False SHCBP1L@p.K305T 1 0.139130435 ENSG00000157060 chr1:182939338-182939338;T/G missense_variant False SHCBP1L@p.N581S 1 0.421568627 ENSG00000157060 chr1:182900203-182900203;T/C missense_variant False SHCBP1L@p.R217K 1 0.14084507 ENSG00000157060 chr1:182940449-182940449;C/T missense_variant False SHD@p.E251K 1 0.26984127 ENSG00000105251 chr19:4288277-4288277;G/A missense_variant False SHD@p.E268K 1 0.222222222 ENSG00000105251 chr19:4288328-4288328;G/A missense_variant False SHD@p.K258M 1 0.714285714 ENSG00000105251 chr19:4288299-4288299;A/T missense_variant False SHD@p.M133I 1 0.379310345 ENSG00000105251 chr19:4282971-4282971;G/A missense_variant False SHD@p.R166W 1 0.275 ENSG00000105251 chr19:4283146-4283146;C/T missense_variant False SHE@p.D233N 1 0.120689655 ENSG00000169291 chr1:154499133-154499133;C/T missense_variant False SHE@p.Q153E 1 0.433333333 ENSG00000169291 chr1:154501570-154501570;G/C missense_variant False SHF@p.E271Q 1 0.52 ENSG00000138606 chr15:45172301-45172301;C/G missense_variant False SHF@p.Q115E 1 0.413793103 ENSG00000138606 chr15:45178267-45178267;G/C missense_variant False SHF@p.R421G 1 0.295454545 ENSG00000138606 chr15:45167958-45167958;G/C missense_variant False SHF@p.S65P 1 0.245454545 ENSG00000138606 chr15:45198882-45198882;A/G missense_variant False SHOX2@p.D292N 1 0.133748056 ENSG00000168779 chr3:158098149-158098149;C/T missense_variant False SHOX2@p.S293L 1 0.209821429 ENSG00000168779 chr3:158098145-158098145;G/A missense_variant False SI@p.Q498P 1 0.459459459 ENSG00000090402 chr3:165055213-165055213;T/G missense_variant False SHROOM3@p.Y1750C 1 0.254237288 ENSG00000138771 chr4:76759595-76759595;A/G missense_variant False SHROOM4@p.R1466P 1 0.444444444 ENSG00000158352 chrX:50596780-50596780;C/G missense_variant False SHROOM4@p.Q535E 1 0.545454545 ENSG00000158352 chrX:50634470-50634470;G/C missense_variant False SHROOM4@p.K1096_P1105delinsT 1 0.321428571 ENSG00000158352 chrX:50607829-50607855;GAGGGCGAGGAGGAGGAAAGGCCTTCT/- inframe_deletion False SHROOM4@p.G969A 1 0.5 ENSG00000158352 chrX:50627665-50627665;C/G missense_variant False SHROOM4@p.G1246R 1 0.111111111 ENSG00000158352 chrX:50607406-50607406;C/T missense_variant False SHROOM4@p.E622K 1 0.130434783 ENSG00000158352 chrX:50634209-50634209;C/T missense_variant False SHROOM3@p.S676R 1 0.08 ENSG00000138771 chr4:76740199-76740199;A/C missense_variant False SHROOM3@p.G23E 1 0.271428571 ENSG00000138771 chr4:76436120-76436120;G/A missense_variant False SHROOM3@p.S17C 1 0.339805825 ENSG00000138771 chr4:76436102-76436102;C/G missense_variant False SHROOM3@p.R314Q 1 0.459459459 ENSG00000138771 chr4:76739114-76739114;G/A missense_variant False SHROOM3@p.Q879H 1 0.379310345 ENSG00000138771 chr4:76740810-76740810;G/C missense_variant False SHROOM3@p.Q773R 1 0.380952381 ENSG00000138771 chr4:76740491-76740491;A/G missense_variant False SHROOM3@p.P239A 1 0.125 ENSG00000138771 chr4:76738888-76738888;C/G missense_variant False SHROOM3@p.M1927T 1 0.226890756 ENSG00000138771 chr4:76778966-76778966;T/C missense_variant False SHROOM4@p.R1466Q 1 0.388888889 ENSG00000158352 chrX:50596780-50596780;C/T missense_variant False SHROOM4@p.S528Y 1 0.666666667 ENSG00000158352 chrX:50634490-50634490;G/T missense_variant False SHTN1@p.E224K 1 0.219512195 ENSG00000187164 chr10:116944965-116944965;C/T missense_variant False SHTN1@p.R484K 1 0.3125 ENSG00000187164 chr10:116906656-116906656;C/T missense_variant False SI@p.E1377Q 1 0.142857143 ENSG00000090402 chr3:165009329-165009329;C/G missense_variant False SI@p.E1441K 1 0.52 ENSG00000090402 chr3:165006901-165006901;C/T missense_variant False SI@p.E766K 1 0.210526316 ENSG00000090402 chr3:165039083-165039083;C/T missense_variant False SI@p.E889D 1 0.55 ENSG00000090402 chr3:165032591-165032591;T/A missense_variant False SI@p.G1289E 1 0.216494845 ENSG00000090402 chr3:165015974-165015974;C/T missense_variant False SI@p.G140E 1 0.366666667 ENSG00000090402 chr3:165068786-165068786;C/T missense_variant False SI@p.I1294T 1 0.383928571 ENSG00000090402 chr3:165015959-165015959;A/G missense_variant False SI@p.L1818V 1 0.06547619 ENSG00000090402 chr3:164979394-164979394;G/C missense_variant False SI@p.P104R 1 0.314516129 ENSG00000090402 chr3:165069140-165069140;G/C missense_variant False SI@p.P1051L 1 0.333333333 ENSG00000090402 chr3:165021331-165021331;G/A missense_variant False SI@p.P1568L 1 0.131004367 ENSG00000090402 chr3:164994395-164994395;G/A missense_variant False SI@p.P1568S 1 0.3 ENSG00000090402 chr3:164994396-164994396;G/A missense_variant False SI@p.P79S 1 0.446153846 ENSG00000090402 chr3:165074551-165074551;G/A missense_variant False SHROOM3@p.L84P 1 0.175438596 ENSG00000138771 chr4:76555691-76555691;T/C missense_variant False SHROOM3@p.G1274E 1 0.519379845 ENSG00000138771 chr4:76749084-76749084;G/A missense_variant False SHOX@p.E37K 1 0.432098765 ENSG00000292354 chrX:631006-631006;G/A missense_variant False SHPRH@p.E920K 1 0.186046512 ENSG00000146414 chr6:145935139-145935139;C/T missense_variant False SHQ1@p.E34K 1 0.346320346 ENSG00000144736 chr3:72848241-72848241;C/T missense_variant False SHQ1@p.D570H 1 0.137254902 ENSG00000144736 chr3:72750310-72750310;C/G missense_variant False SHPRH@p.S1493L 1 0.152380952 ENSG00000146414 chr6:145910485-145910485;G/A missense_variant False SHPRH@p.R571K 1 0.322916667 ENSG00000146414 chr6:145943669-145943669;C/T missense_variant False SHPRH@p.K886N 1 0.217391304 ENSG00000146414 chr6:145935353-145935353;C/G missense_variant False SHPRH@p.H278D 1 0.148148148 ENSG00000146414 chr6:145950414-145950414;G/C missense_variant False SHPRH@p.E187Q 1 0.179775281 ENSG00000146414 chr6:145954764-145954764;C/G missense_variant False SHROOM3@p.E155K 1 0.366906475 ENSG00000138771 chr4:76730811-76730811;G/A missense_variant False SHPRH@p.E1274K 1 0.129032258 ENSG00000146414 chr6:145921355-145921355;C/T missense_variant False SHPRH@p.D963N 1 0.183333333 ENSG00000146414 chr6:145935010-145935010;C/T missense_variant False SHPK@p.V97M 1 0.11627907 ENSG00000197417 chr17:3630226-3630226;C/T missense_variant False SHOX@p.R169K 1 0.397260274 ENSG00000292354 chrX:640840-640840;G/A missense_variant False SHOX@p.R121S 1 0.086956522 ENSG00000292354 chrX:634701-634701;C/A missense_variant False SHOX@p.G64R 1 0.445783133 ENSG00000292354 chrX:631087-631087;G/C missense_variant False SHQ1@p.S450F 1 0.6 ENSG00000144736 chr3:72750669-72750669;G/A missense_variant False SHROOM1@p.D451H 1 0.130434783 ENSG00000164403 chr5:132824310-132824310;C/G missense_variant False SHROOM1@p.Q349E 1 0.416666667 ENSG00000164403 chr5:132824811-132824811;G/C missense_variant False SHROOM1@p.Q349H 1 0.161290323 ENSG00000164403 chr5:132824809-132824809;C/G missense_variant False SHROOM1@p.R429I 1 0.52 ENSG00000164403 chr5:132824375-132824375;C/A missense_variant False SHROOM1@p.S308L 1 0.240740741 ENSG00000164403 chr5:132825218-132825218;G/A missense_variant False SHROOM2@p.E1243K 1 0.869565217 ENSG00000146950 chrX:9937273-9937273;G/A missense_variant False SHROOM2@p.E1569K 1 0.5 ENSG00000146950 chrX:9946791-9946791;G/A missense_variant False SHROOM2@p.P1099L 1 0.102941176 ENSG00000146950 chrX:9932579-9932579;C/T missense_variant False SHROOM2@p.P458L 1 0.212121212 ENSG00000146950 chrX:9895281-9895281;C/T missense_variant False SHROOM2@p.S312L 1 0.428571429 ENSG00000146950 chrX:9894843-9894843;C/T missense_variant False SHROOM2@p.V808I 1 0.147058824 ENSG00000146950 chrX:9896330-9896330;G/A missense_variant False SHROOM3@p.A13V 1 0.472527473 ENSG00000138771 chr4:76436090-76436090;C/T missense_variant False SHROOM3@p.C560F 1 0.433823529 ENSG00000138771 chr4:76739852-76739852;G/T missense_variant False SHROOM3@p.D515H 1 0.266233766 ENSG00000138771 chr4:76739716-76739716;G/C missense_variant False SHROOM3@p.D537N 1 0.099173554 ENSG00000138771 chr4:76739782-76739782;G/A missense_variant False SHROOM3@p.E1287D 1 0.422330097 ENSG00000138771 chr4:76754344-76754344;G/C missense_variant False SIPA1L2@p.S1353L 1 0.3125 ENSG00000116991 chr1:232432445-232432445;G/A missense_variant False SIPA1L2@p.T629Kfs*20 1 0.176470588 ENSG00000116991 chr1:232483887-232483888;-/TT frameshift_variant False SLC17A3@p.E379K 1 0.612403101 ENSG00000124564 chr6:25845510-25845510;C/T missense_variant False SLC12A4@p.V508I 1 0.275 ENSG00000124067 chr16:67950426-67950426;C/T missense_variant False SLC12A5@p.L311R 1 0.672727273 ENSG00000124140 chr20:46041337-46041337;T/G missense_variant False SLC12A5@p.K896N 1 0.426573427 ENSG00000124140 chr20:46053649-46053649;G/T missense_variant False SLC12A5@p.I651M 1 0.108108108 ENSG00000124140 chr20:46047550-46047550;C/G missense_variant False SLC12A5@p.G726S 1 0.333333333 ENSG00000124140 chr20:46049716-46049716;G/A missense_variant False SLC12A5@p.E661K 1 0.5 ENSG00000124140 chr20:46047985-46047985;G/A missense_variant False SLC12A5@p.E481Q 1 0.106870229 ENSG00000124140 chr20:46043911-46043911;G/C missense_variant False SLC12A4@p.K943N 1 0.12987013 ENSG00000124067 chr16:67945782-67945782;C/G missense_variant False SLC12A5@p.Q132H 1 0.320512821 ENSG00000124140 chr20:46035824-46035824;G/T missense_variant False SLC12A4@p.F342L 1 0.111111111 ENSG00000124067 chr16:67951931-67951931;A/G missense_variant False SLC12A4@p.E386K 1 0.231481481 ENSG00000124067 chr16:67951281-67951281;C/T missense_variant False SLC12A4@p.E364K 1 0.125 ENSG00000124067 chr16:67951865-67951865;C/T missense_variant False SLC12A4@p.D321N 1 0.361445783 ENSG00000124067 chr16:67951994-67951994;C/T missense_variant False SLC12A4@p.D27E 1 0.083333333 ENSG00000124067 chr16:67968473-67968473;G/T missense_variant False SLC12A4@p.C343R 1 0.3125 ENSG00000124067 chr16:67951928-67951928;A/G missense_variant False SLC12A5@p.L902V 1 0.079896907 ENSG00000124140 chr20:46053665-46053665;C/G missense_variant False SLC12A5@p.R193K 1 0.178807947 ENSG00000124140 chr20:46037282-46037282;G/A missense_variant False SIPA1L3@p.E1297Q 1 0.723076923 ENSG00000105738 chr19:38164587-38164587;G/C missense_variant False SLC12A6@p.R207H 1 0.275862069 ENSG00000140199 chr15:34257712-34257712;C/T missense_variant False SLC12A7@p.P116S 1 0.489795918 ENSG00000113504 chr5:1089125-1089125;G/A missense_variant False SLC12A7@p.G497S 1 0.428571429 ENSG00000113504 chr5:1077973-1077973;C/T missense_variant False SLC12A7@p.E756K 1 0.242718447 ENSG00000113504 chr5:1065454-1065454;C/T missense_variant False SLC12A7@p.E681K 1 0.37704918 ENSG00000113504 chr5:1074598-1074598;C/T missense_variant False SLC12A7@p.A988P 1 0.100917431 ENSG00000113504 chr5:1057535-1057535;C/G missense_variant False SLC12A6@p.S689R 1 0.2 ENSG00000140199 chr15:34242199-34242199;T/G missense_variant False SLC12A6@p.R1026P 1 0.088235294 ENSG00000140199 chr15:34236165-34236165;C/G missense_variant False SLC12A5@p.R677G 1 0.16 ENSG00000124140 chr20:46048033-46048033;C/G missense_variant False SLC12A6@p.F15L 1 0.19047619 ENSG00000140199 chr15:34336636-34336636;G/T missense_variant False SLC12A6@p.A74Cfs*7 1 0.295454545 ENSG00000140199 chr15:34336461-34336462;-/A frameshift_variant False SLC12A5@p.S466C 1 0.229166667 ENSG00000124140 chr20:46043723-46043723;C/G missense_variant False SLC12A5@p.S433L 1 0.106060606 ENSG00000124140 chr20:46043315-46043315;C/T missense_variant False SLC12A5@p.S384Y 1 0.030927835 ENSG00000124140 chr20:46043168-46043168;C/A missense_variant False SLC12A5@p.R961G 1 0.303571429 ENSG00000124140 chr20:46056174-46056174;C/G missense_variant False SLC12A3@p.R1009Q 1 0.168 ENSG00000070915 chr16:56913365-56913365;G/A missense_variant False SLC12A3@p.N299S 1 0.586206897 ENSG00000070915 chr16:56872394-56872394;A/G missense_variant False SLC12A3@p.L738V 1 0.309859155 ENSG00000070915 chr16:56887958-56887958;C/G missense_variant False SLC10A3@p.Q441E 1 0.230769231 ENSG00000126903 chrX:154487620-154487620;G/C missense_variant False SLC10A6@p.L125F 1 0.491017964 ENSG00000145283 chr4:86848743-86848743;G/A missense_variant False SLC10A5@p.Q429K 1 0.333333333 ENSG00000253598 chr8:81693688-81693688;G/T missense_variant False SLC10A5@p.E371G 1 0.31372549 ENSG00000253598 chr8:81693861-81693861;T/C missense_variant False SLC10A5@p.E116K 1 0.196581197 ENSG00000253598 chr8:81694627-81694627;C/T missense_variant False SLC10A4@p.N426H 1 0.486486486 ENSG00000145248 chr4:48488901-48488901;A/C missense_variant False SLC10A3@p.S72C 1 0.107142857 ENSG00000126903 chrX:154488726-154488726;G/C missense_variant False SLC10A3@p.Q11E 1 0.636363636 ENSG00000126903 chrX:154488910-154488910;G/C missense_variant False SLC12A3@p.E995Q 1 0.142857143 ENSG00000070915 chr16:56913322-56913322;G/C missense_variant False SLC10A2@p.T257M 1 0.24 ENSG00000125255 chr13:103049438-103049438;G/A missense_variant False SLC10A2@p.S171Y 1 0.343283582 ENSG00000125255 chr13:103052693-103052693;G/T missense_variant False SLC10A2@p.S157N 1 0.362318841 ENSG00000125255 chr13:103058290-103058290;C/T missense_variant False SLC10A2@p.R256Q 1 0.109090909 ENSG00000125255 chr13:103049441-103049441;C/T missense_variant False SLC10A2@p.L30V 1 0.254658385 ENSG00000125255 chr13:103066162-103066162;G/C missense_variant False SLC10A2@p.G316E 1 0.166666667 ENSG00000125255 chr13:103046233-103046233;C/T missense_variant False SLC10A6@p.S219C 1 0.156862745 ENSG00000145283 chr4:86828098-86828098;G/C missense_variant False SLC10A7@p.I191M 1 0.25 ENSG00000120519 chr4:146294078-146294078;G/C missense_variant False SLC10A7@p.S168Y 1 0.5 ENSG00000120519 chr4:146305978-146305978;G/T missense_variant False SLC10A7@p.T221M 1 0.104761905 ENSG00000120519 chr4:146293989-146293989;G/A missense_variant False SLC11A1@p.A86T 1 0.421052632 ENSG00000018280 chr2:218384348-218384348;G/A missense_variant False SLC11A1@p.E220G 1 0.555555556 ENSG00000018280 chr2:218387819-218387819;A/G missense_variant False SLC11A2@p.V528A 1 0.338983051 ENSG00000110911 chr12:50990874-50990874;A/G missense_variant False SLC12A1@p.E727D 1 0.301075269 ENSG00000074803 chr15:48267587-48267587;G/T missense_variant False SLC12A1@p.I821M 1 0.12 ENSG00000074803 chr15:48274631-48274631;C/G missense_variant False SLC12A1@p.S594Y 1 0.157142857 ENSG00000074803 chr15:48249671-48249671;C/A missense_variant False SLC12A1@p.T791K 1 0.424242424 ENSG00000074803 chr15:48269734-48269734;C/A missense_variant False SLC12A2@p.A377D 1 0.112149533 ENSG00000064651 chr5:128131148-128131148;C/A missense_variant False SLC12A2@p.A764V 1 0.090909091 ENSG00000064651 chr5:128152733-128152733;C/T missense_variant False SLC12A2@p.I666M 1 0.071428571 ENSG00000064651 chr5:128148870-128148870;C/G missense_variant False SLC12A2@p.T600I 1 0.129032258 ENSG00000064651 chr5:128147647-128147647;C/T missense_variant False SLC12A3@p.D337H 1 0.5 ENSG00000070915 chr16:56872700-56872700;G/C missense_variant False SLC12A3@p.E131K 1 0.272727273 ENSG00000070915 chr16:56867178-56867178;G/A missense_variant False SLC12A7@p.Q836K 1 0.340425532 ENSG00000113504 chr5:1064184-1064184;G/T missense_variant False SLC12A7@p.Q931H 1 0.593103448 ENSG00000113504 chr5:1060398-1060398;C/G missense_variant False SLC12A7@p.R956W 1 0.174242424 ENSG00000113504 chr5:1057631-1057631;T/A missense_variant False SLC16A1@p.A360T 1 0.368421053 ENSG00000155380 chr1:112917328-112917328;C/T missense_variant False SLC16A4@p.G265V 1 0.102803738 ENSG00000168679 chr1:110379089-110379089;C/A missense_variant False SLC16A4@p.D359N 1 0.18556701 ENSG00000168679 chr1:110377117-110377117;C/T missense_variant False SLC16A3@p.H459Y 1 0.125 ENSG00000141526 chr17:82238953-82238953;C/T missense_variant False SLC16A2@p.R322H 1 0.976744186 ENSG00000147100 chrX:74524748-74524748;G/A missense_variant False SLC16A2@p.I114M 1 0.291666667 ENSG00000147100 chrX:74421979-74421979;C/G missense_variant False SLC16A1@p.R313L 1 0.166666667 ENSG00000155380 chr1:112917468-112917468;C/A missense_variant False SLC16A14@p.Q270E 1 0.835820896 ENSG00000163053 chr2:230046318-230046318;G/C missense_variant False SLC15A2@p.S40C 1 0.3046875 ENSG00000163406 chr3:121896419-121896419;C/G missense_variant False SLC16A14@p.D471N 1 0.414634146 ENSG00000163053 chr2:230037502-230037502;C/T missense_variant False SLC16A13@p.L120F 1 0.074712644 ENSG00000174327 chr17:7038168-7038168;G/C missense_variant False SLC16A10@p.S104F 1 0.533333333 ENSG00000112394 chr6:111088063-111088063;C/T missense_variant False SLC16A10@p.L168V 1 0.12987013 ENSG00000112394 chr6:111177225-111177225;C/G missense_variant False SLC16A10@p.G462E 1 0.081081081 ENSG00000112394 chr6:111222072-111222072;G/A missense_variant False SLC15A3@p.P463R 1 0.3125 ENSG00000110446 chr11:60939527-60939527;G/C missense_variant False SLC16A5@p.E483K 1 0.3 ENSG00000170190 chr17:75105962-75105962;G/A missense_variant False SLC16A5@p.F30L 1 0.105 ENSG00000170190 chr17:75093726-75093726;C/A missense_variant False SLC16A5@p.V128M 1 0.326530612 ENSG00000170190 chr17:75100045-75100045;G/A missense_variant False SLC16A6@p.A108T 1 0.169811321 ENSG00000108932 chr17:68273981-68273981;C/T missense_variant False SLC16A6@p.A162T 1 0.173184358 ENSG00000108932 chr17:68272660-68272660;C/T missense_variant False SLC16A6@p.E513K 1 0.137096774 ENSG00000108932 chr17:68269131-68269131;C/T missense_variant False SLC16A6@p.H254D 1 0.12987013 ENSG00000108932 chr17:68271400-68271400;G/C missense_variant False SLC16A6@p.K475N 1 0.166666667 ENSG00000108932 chr17:68269243-68269243;C/G missense_variant False SLC16A7@p.A269V 1 0.450704225 ENSG00000118596 chr12:59775101-59775101;C/T missense_variant False SLC16A7@p.M289R 1 0.125714286 ENSG00000118596 chr12:59775161-59775161;T/G missense_variant False SLC16A7@p.S104Y 1 0.375394322 ENSG00000118596 chr12:59771312-59771312;C/A missense_variant False SLC16A8@p.E490K 1 0.309090909 ENSG00000100156 chr22:38078435-38078435;C/T missense_variant False SLC16A9@p.S233N 1 0.361607143 ENSG00000165449 chr10:59654328-59654328;C/T missense_variant False SLC16A9@p.V259M 1 0.218623482 ENSG00000165449 chr10:59654251-59654251;C/T missense_variant False SLC17A1@p.R140Q 1 0.492537313 ENSG00000124568 chr6:25819704-25819704;C/T missense_variant False SLC17A2@p.D78N 1 0.582352941 ENSG00000112337 chr6:25923703-25923703;C/T missense_variant False SLC17A2@p.G330S 1 0.431818182 ENSG00000112337 chr6:25915811-25915811;C/T missense_variant False SLC15A3@p.E42K 1 0.285714286 ENSG00000110446 chr11:60951428-60951428;C/T missense_variant False SLC15A2@p.S118C 1 0.431034483 ENSG00000163406 chr3:121911591-121911591;C/G missense_variant False SLC12A7@p.S997* 1 0.240310078 ENSG00000113504 chr5:1057508-1057509;-/A frameshift_variant False SLC13A1@p.P342L 1 0.454545455 ENSG00000081800 chr7:123129389-123129389;G/A missense_variant False SLC13A3@p.S536F 1 0.111111111 ENSG00000158296 chr20:46563439-46563439;G/A missense_variant False SLC13A3@p.R317I 1 0.451923077 ENSG00000158296 chr20:46589226-46589226;C/A missense_variant False SLC13A3@p.A465T 1 0.505494505 ENSG00000158296 chr20:46566330-46566330;C/T missense_variant False SLC13A3@p.A146T 1 0.396551724 ENSG00000158296 chr20:46610551-46610551;C/T missense_variant False SLC13A2@p.L83V 1 0.168478261 ENSG00000007216 chr17:28490469-28490469;C/G missense_variant False SLC13A2@p.E81K 1 0.289855072 ENSG00000007216 chr17:28490463-28490463;G/A missense_variant False SLC13A1@p.E51K 1 0.088235294 ENSG00000081800 chr7:123181050-123181050;C/T missense_variant False SLC15A2@p.L489V 1 0.102941176 ENSG00000163406 chr3:121929105-121929105;C/G missense_variant False SLC13A1@p.E152K 1 0.106382979 ENSG00000081800 chr7:123169247-123169247;C/T missense_variant False SLC12A9@p.Y333D 1 0.298780488 ENSG00000146828 chr7:100859904-100859904;T/G missense_variant False SLC12A9@p.S719C 1 0.394218134 ENSG00000146828 chr7:100866016-100866016;C/G missense_variant False SLC12A9@p.I350M 1 0.319587629 ENSG00000146828 chr7:100859957-100859957;C/G missense_variant False SLC12A8@p.R583K 1 0.317073171 ENSG00000221955 chr3:125092156-125092156;C/T missense_variant False SLC12A8@p.M683I 1 0.375 ENSG00000221955 chr3:125083986-125083986;C/T missense_variant False SLC13A4@p.A276P 1 0.178571429 ENSG00000164707 chr7:135699434-135699434;C/G missense_variant False SLC13A4@p.F404S 1 0.5 ENSG00000164707 chr7:135692332-135692332;A/G missense_variant False SLC13A4@p.W455C 1 0.414634146 ENSG00000164707 chr7:135691279-135691279;C/G missense_variant False SLC13A5@p.F279Y 1 0.393939394 ENSG00000141485 chr17:6701007-6701007;A/T missense_variant False SLC13A5@p.Q196Rfs*13 1 0.224489796 ENSG00000141485 chr17:6703099-6703099;T/- frameshift_variant False SLC14A1@p.L313F 1 0.195652174 ENSG00000141469 chr18:45739653-45739653;C/T missense_variant False SLC14A1@p.M42I 1 0.294117647 ENSG00000141469 chr18:45730446-45730446;G/A missense_variant False SLC14A1@p.S23Cfs*20 1 0.254716981 ENSG00000141469 chr18:45730388-45730388;C/- frameshift_variant False SLC14A1@p.S264L 1 0.238095238 ENSG00000141469 chr18:45739290-45739290;C/T missense_variant False SLC14A1@p.T346M 1 0.125 ENSG00000141469 chr18:45749818-45749818;C/T missense_variant False SLC14A2@p.D120H 1 0.189655172 ENSG00000132874 chr18:45626984-45626984;G/C missense_variant False SLC14A2@p.E22K 1 0.210526316 ENSG00000132874 chr18:45624728-45624728;G/A missense_variant False SLC15A1@p.A54T 1 0.657894737 ENSG00000088386 chr13:98726208-98726208;C/T missense_variant False SLC15A1@p.I665T 1 0.115384615 ENSG00000088386 chr13:98684857-98684857;A/G missense_variant False SLC15A1@p.R161Ifs*10 1 0.256410256 ENSG00000088386 chr13:98721568-98721569;TC/- frameshift_variant False SLC15A2@p.F568Y 1 0.173913043 ENSG00000163406 chr3:121931677-121931677;T/A missense_variant False SLC15A2@p.L353I 1 0.407185629 ENSG00000163406 chr3:121924966-121924966;C/A missense_variant False SLC10A2@p.E54Q 1 0.395348837 ENSG00000125255 chr13:103066090-103066090;C/G missense_variant False SLC10A2@p.C105Y 1 0.91025641 ENSG00000125255 chr13:103065936-103065936;C/T missense_variant False SLC10A1@p.P181Hfs*12 1 0.220689655 ENSG00000100652 chr14:69786124-69786124;C/- frameshift_variant False SIRT5@p.E125K 1 0.2 ENSG00000124523 chr6:13591792-13591792;G/A missense_variant False SIVA1@p.E32K 1 0.404761905 ENSG00000184990 chr14:104753295-104753295;G/A missense_variant False SIT1@p.C27F 1 0.294117647 ENSG00000137078 chr9:35650774-35650774;C/A missense_variant False SIRT7@p.R289W 1 0.35483871 ENSG00000187531 chr17:81914119-81914119;G/A missense_variant False SIRT7@p.A258Cfs*31 1 0.424242424 ENSG00000187531 chr17:81914338-81914339;-/A frameshift_variant False SIRT6@p.E131Q 1 0.571428571 ENSG00000077463 chr19:4177125-4177125;C/G missense_variant False SIRT5@p.R44Q 1 0.52173913 ENSG00000124523 chr6:13588346-13588346;G/A missense_variant False SIRT4@p.S302C 1 0.231707317 ENSG00000089163 chr12:120312996-120312996;C/G missense_variant False SIRT1@p.G618E 1 0.5 ENSG00000096717 chr10:67912969-67912969;G/A missense_variant False SIRT4@p.L227V 1 0.181818182 ENSG00000089163 chr12:120312637-120312637;C/G missense_variant False SIRT3@p.H217R 1 0.2 ENSG00000142082 chr11:233039-233039;T/C missense_variant False SIRT3@p.G161R 1 0.277777778 ENSG00000142082 chr11:233208-233208;C/T missense_variant False SIRT2@p.R346Q 1 0.375 ENSG00000068903 chr19:38879288-38879288;C/T missense_variant False SIRT1@p.Y650D 1 0.106382979 ENSG00000096717 chr10:67916297-67916297;T/G missense_variant False SIRT1@p.Q632H 1 0.253333333 ENSG00000096717 chr10:67913012-67913012;G/C missense_variant False SIVA1@p.V64I 1 0.169230769 ENSG00000184990 chr14:104755701-104755701;G/A missense_variant False SIX1@p.E191K 1 0.438596491 ENSG00000126778 chr14:60646567-60646567;C/T missense_variant False SIX1@p.E218K 1 0.233333333 ENSG00000126778 chr14:60646486-60646486;C/T missense_variant False SIX1@p.R110W 1 0.352459016 ENSG00000126778 chr14:60648862-60648862;G/A missense_variant False SIX2@p.P237S 1 0.100591716 ENSG00000170577 chr2:45006337-45006337;G/A missense_variant False SIX2@p.S76W 1 0.207792208 ENSG00000170577 chr2:45008884-45008884;G/C missense_variant False SIX3@p.E123K 1 0.416666667 ENSG00000138083 chr2:44942471-44942471;G/A missense_variant False SIX3@p.E176K 1 0.222222222 ENSG00000138083 chr2:44942630-44942630;G/A missense_variant False SIX3@p.H162Y 1 0.233333333 ENSG00000138083 chr2:44942588-44942588;C/T missense_variant False SIX4@p.D317N 1 0.233766234 ENSG00000100625 chr14:60720360-60720360;C/T missense_variant False SIX4@p.E19Q 1 0.4 ENSG00000100625 chr14:60724020-60724020;C/G missense_variant False SIX4@p.G203A 1 0.25 ENSG00000100625 chr14:60723467-60723467;C/G missense_variant False SIX4@p.G347E 1 0.176470588 ENSG00000100625 chr14:60720269-60720269;C/T missense_variant False SIX4@p.I16M 1 0.376470588 ENSG00000100625 chr14:60724027-60724027;G/C missense_variant False SIX4@p.K272N 1 0.461538462 ENSG00000100625 chr14:60723259-60723259;C/A missense_variant False SIX4@p.S499N 1 0.204918033 ENSG00000100625 chr14:60719813-60719813;C/T missense_variant False SIX5@p.A673V 1 0.5 ENSG00000177045 chr19:45765703-45765703;G/A missense_variant False SIRT1@p.H471Y 1 0.462686567 ENSG00000096717 chr10:67912527-67912527;C/T missense_variant False SIRT1@p.E609A 1 0.35483871 ENSG00000096717 chr10:67912942-67912942;A/C missense_variant False SIX5@p.S295F 1 0.461538462 ENSG00000177045 chr19:45767075-45767075;G/A missense_variant False SIRPA@p.C273S 1 0.206896552 ENSG00000198053 chr20:1922376-1922376;G/C missense_variant False SIRPB1@p.K82E 1 0.305263158 ENSG00000101307 chr20:1578527-1578527;T/C missense_variant False SIRPB1@p.K342N 1 0.065934066 ENSG00000101307 chr20:1570863-1570863;T/A missense_variant False SIRPB1@p.E94K 1 0.153543307 ENSG00000101307 chr20:1578491-1578491;C/T missense_variant False SIRPB1@p.E247Q 1 0.126984127 ENSG00000101307 chr20:1571732-1571732;C/G missense_variant False SIRPA@p.S455R 1 0.404761905 ENSG00000198053 chr20:1937418-1937418;C/A missense_variant False SIRPA@p.L240V 1 0.4 ENSG00000198053 chr20:1921676-1921676;C/G missense_variant False SIPA1L3@p.S742C 1 0.327586207 ENSG00000105738 chr19:38110318-38110318;C/G missense_variant False SIRT1@p.E230K 1 0.211538462 ENSG00000096717 chr10:67889022-67889022;G/A missense_variant False SIPA1L3@p.S1271R 1 0.33203125 ENSG00000105738 chr19:38164511-38164511;C/G missense_variant False SIPA1L3@p.K1460N 1 0.21 ENSG00000105738 chr19:38182690-38182690;G/C missense_variant False SIPA1L3@p.G681R 1 0.081481481 ENSG00000105738 chr19:38106548-38106548;G/A missense_variant False SIPA1L3@p.E864Q 1 0.309090909 ENSG00000105738 chr19:38119604-38119604;G/C missense_variant False SIPA1L3@p.E52K 1 0.351351351 ENSG00000105738 chr19:38081719-38081719;G/A missense_variant False SIPA1L3@p.E1694D 1 0.085308057 ENSG00000105738 chr19:38201959-38201959;G/T missense_variant False SIRPB1@p.N109Y 1 0.186046512 ENSG00000101307 chr20:1578446-1578446;T/A missense_variant False SIRPB1@p.P261H 1 0.390243902 ENSG00000101307 chr20:1571107-1571107;G/T missense_variant False SIRPB1@p.Q81H 1 0.11023622 ENSG00000101307 chr20:1578528-1578528;C/G missense_variant False SIRPB2@p.E321K 1 0.308411215 ENSG00000196209 chr20:1476235-1476235;C/T missense_variant False SIRPB2@p.G189R 1 0.43902439 ENSG00000196209 chr20:1478494-1478494;C/T missense_variant False SIRPB2@p.V243I 1 0.337837838 ENSG00000196209 chr20:1478332-1478332;C/T missense_variant False SIRPD@p.E172D 1 0.242424242 ENSG00000125900 chr20:1537216-1537216;C/G missense_variant False SIRPD@p.E88Q 1 0.08 ENSG00000125900 chr20:1551850-1551850;C/G missense_variant False SIRPD@p.Q39Hfs*45 1 0.109589041 ENSG00000125900 chr20:1551995-1551996;-/GTCA frameshift_variant False SIRPD@p.R103C 1 0.18627451 ENSG00000125900 chr20:1551805-1551805;G/A missense_variant False SIRPD@p.T102Pfs*17 1 0.245283019 ENSG00000125900 chr20:1551809-1551809;G/- frameshift_variant False SIRPG@p.E128K 1 0.211711712 ENSG00000089012 chr20:1649100-1649100;C/T missense_variant False SIRPG@p.G335W 1 0.477272727 ENSG00000089012 chr20:1635345-1635345;C/A missense_variant False SIRPG@p.M100I 1 0.257894737 ENSG00000089012 chr20:1649182-1649182;C/T missense_variant False SIRPG@p.P10T 1 0.1375 ENSG00000089012 chr20:1657687-1657687;G/T missense_variant False SIRT1@p.D197H 1 0.153846154 ENSG00000096717 chr10:67888923-67888923;G/C missense_variant False SIRT1@p.E164K 1 0.179104478 ENSG00000096717 chr10:67887476-67887476;G/A missense_variant False SIX5@p.G261E 1 0.470588235 ENSG00000177045 chr19:45768063-45768063;C/T missense_variant False SKA1@p.L222F 1 0.1 ENSG00000154839 chr18:50392145-50392145;G/C missense_variant False SLC10A1@p.C129R 1 0.4 ENSG00000100652 chr14:69786279-69786279;A/G missense_variant False SLA2@p.L132M 1 0.160493827 ENSG00000101082 chr20:36615363-36615363;G/T missense_variant False SLAIN1@p.S531G 1 0.377358491 ENSG00000139737 chr13:77761070-77761070;A/G missense_variant False SLAIN1@p.S372L 1 0.391304348 ENSG00000139737 chr13:77746778-77746778;C/T missense_variant False SLAIN1@p.R535Q 1 0.524590164 ENSG00000139737 chr13:77761083-77761083;G/A missense_variant False SLA@p.E154Q 1 0.074074074 ENSG00000155926 chr8:133045008-133045008;C/G missense_variant False SLA2@p.R78T 1 0.583333333 ENSG00000101082 chr20:36633588-36633588;C/G missense_variant False SLA2@p.L206Pfs*4 1 0.160714286 ENSG00000101082 chr20:36614353-36614354;-/GG frameshift_variant False SLA2@p.D260N 1 0.25 ENSG00000101082 chr20:36613874-36613874;C/T missense_variant False SKOR1@p.F959C 1 0.310344828 ENSG00000188779 chr15:67833814-67833814;T/G missense_variant False SKP2@p.S203F 1 0.04845815 ENSG00000145604 chr5:36168384-36168384;C/T missense_variant False SKP2@p.S135C 1 0.102803738 ENSG00000145604 chr5:36166530-36166530;C/G missense_variant False SKP2@p.E245K 1 0.086206897 ENSG00000145604 chr5:36170405-36170405;G/A missense_variant False SKP2@p.E194K 1 0.403508772 ENSG00000145604 chr5:36168356-36168356;G/A missense_variant False SKP1@p.E133Q 1 0.21875 ENSG00000113558 chr5:134158514-134158514;C/G missense_variant False SKP1@p.E133K 1 0.318681319 ENSG00000113558 chr5:134158514-134158514;C/T missense_variant False SLAIN2@p.P161S 1 0.150943396 ENSG00000109171 chr4:48369940-48369940;C/T missense_variant False SLAIN2@p.R472W 1 0.192307692 ENSG00000109171 chr4:48420178-48420178;C/T missense_variant False SLAIN2@p.R551C 1 0.316129032 ENSG00000109171 chr4:48420415-48420415;C/T missense_variant False SLAIN2@p.S349L 1 0.506849315 ENSG00000109171 chr4:48382751-48382751;C/T missense_variant False SLAIN2@p.S511L 1 0.355555556 ENSG00000109171 chr4:48420296-48420296;C/T missense_variant False SLAMF6@p.K71N 1 0.39047619 ENSG00000162739 chr1:160496230-160496230;T/A missense_variant False SLAMF6@p.P41L 1 0.094256259 ENSG00000162739 chr1:160496321-160496321;G/A missense_variant False SLAMF7@p.L180I 1 0.450704225 ENSG00000026751 chr1:160749982-160749982;C/A missense_variant False SLAMF7@p.Q255H 1 0.103448276 ENSG00000026751 chr1:160750419-160750419;A/T missense_variant False SLAMF7@p.S278C 1 0.140776699 ENSG00000026751 chr1:160751408-160751408;C/G missense_variant False SLAMF7@p.S50C 1 0.108433735 ENSG00000026751 chr1:160748287-160748287;C/G missense_variant False SLAMF8@p.F133L 1 0.652173913 ENSG00000158714 chr1:159832907-159832907;C/G missense_variant False SLAMF8@p.S204F 1 0.464285714 ENSG00000158714 chr1:159833119-159833119;C/T missense_variant False SLAMF9@p.E48K 1 0.112244898 ENSG00000162723 chr1:159953558-159953558;C/T missense_variant False SLAMF9@p.M252V 1 0.24137931 ENSG00000162723 chr1:159951777-159951777;T/C missense_variant False SLAMF9@p.Q111E 1 0.081871345 ENSG00000162723 chr1:159953369-159953369;G/C missense_variant False SLBP@p.G105E 1 0.15 ENSG00000163950 chr4:1700038-1700038;C/T missense_variant False SKOR1@p.F959L 1 0.28 ENSG00000188779 chr15:67833815-67833815;C/G missense_variant False SKOR1@p.E115K 1 0.25 ENSG00000188779 chr15:67826171-67826171;G/A missense_variant False SKA2@p.L103M 1 0.35443038 ENSG00000182628 chr17:59112336-59112336;G/T missense_variant False SKI@p.M92K 1 0.217391304 ENSG00000157933 chr1:2229041-2229041;T/A missense_variant False SKIL@p.A106T 1 0.488888889 ENSG00000136603 chr3:170360647-170360647;G/A missense_variant False SKIDA1@p.S30F 1 0.346938776 ENSG00000180592 chr10:21517734-21517734;G/A missense_variant False SKIDA1@p.Q753E 1 0.267281106 ENSG00000180592 chr10:21515566-21515566;G/C missense_variant False SKIDA1@p.K715N 1 0.045454545 ENSG00000180592 chr10:21515678-21515678;C/G missense_variant False SKIDA1@p.K55N 1 0.379746835 ENSG00000180592 chr10:21517658-21517658;C/G missense_variant False SKIDA1@p.E710K 1 0.479768786 ENSG00000180592 chr10:21515695-21515695;C/T missense_variant False SKAP2@p.G343E 1 0.366666667 ENSG00000005020 chr7:26670152-26670152;C/T missense_variant False SKIV2L@p.T747M 1 0.148148148 ENSG00000204351 chr6:31966746-31966746;C/T missense_variant False SKAP1@p.S67C 1 0.161290323 ENSG00000141293 chr17:48345986-48345986;T/A missense_variant False SKAP1@p.R43W 1 0.087719298 ENSG00000141293 chr17:48396705-48396705;G/A missense_variant False SKAP1@p.R186H 1 0.320574163 ENSG00000141293 chr17:48184733-48184733;C/T missense_variant False SKA3@p.S350F 1 0.146666667 ENSG00000165480 chr13:21157992-21157992;G/A missense_variant False SKA3@p.F213V 1 0.421052632 ENSG00000165480 chr13:21168094-21168094;A/C missense_variant False SKA3@p.D253N 1 0.291666667 ENSG00000165480 chr13:21161862-21161862;C/T missense_variant False SKIL@p.A323V 1 0.154761905 ENSG00000136603 chr3:170361299-170361299;C/T missense_variant False SKIL@p.E340Q 1 0.190082645 ENSG00000136603 chr3:170361349-170361349;G/C missense_variant False SKIL@p.E349Q 1 0.059322034 ENSG00000136603 chr3:170361376-170361376;G/C missense_variant False SKIL@p.F178Qfs*7 1 0.177777778 ENSG00000136603 chr3:170360863-170360876;TTTACACTCCAGCA/CAG frameshift_variant False SKIL@p.P278H 1 0.210526316 ENSG00000136603 chr3:170361164-170361164;C/A missense_variant False SKIL@p.Q128E 1 0.066820276 ENSG00000136603 chr3:170360713-170360713;C/G missense_variant False SKIL@p.Q364H 1 0.088888889 ENSG00000136603 chr3:170361423-170361423;A/T missense_variant False SKIL@p.Q576H 1 0.777777778 ENSG00000136603 chr3:170391092-170391092;G/C missense_variant False SKIL@p.Q591E 1 0.12 ENSG00000136603 chr3:170391135-170391135;C/G missense_variant False SKIL@p.Q600H 1 0.111111111 ENSG00000136603 chr3:170391164-170391164;G/C missense_variant False SKIV2L@p.D924G 1 0.16 ENSG00000204351 chr6:31967995-31967995;A/G missense_variant False SKIV2L@p.E57K 1 0.376811594 ENSG00000204351 chr6:31960052-31960052;G/A missense_variant False SKIV2L@p.Q1201E 1 0.431034483 ENSG00000204351 chr6:31969575-31969575;C/G missense_variant False SKIV2L@p.Q280L 1 0.185185185 ENSG00000204351 chr6:31961596-31961596;A/T missense_variant False SKIV2L@p.R1063L 1 0.376344086 ENSG00000204351 chr6:31968878-31968878;G/T missense_variant False SKIV2L@p.R20W 1 0.035532995 ENSG00000204351 chr6:31959332-31959332;C/T missense_variant False SKIV2L@p.S556F 1 0.424657534 ENSG00000204351 chr6:31963932-31963932;C/T missense_variant False SPTLC1@p.M249I 1 0.553571429 ENSG00000090054 chr9:92055438-92055438;C/T missense_variant False SPTLC1@p.S322C 1 0.2 ENSG00000090054 chr9:92047632-92047632;G/C missense_variant False SPTLC2@p.E527D 1 0.225 ENSG00000100596 chr14:77512392-77512392;C/G missense_variant False TFRC@p.L425V 1 0.310344828 ENSG00000072274 chr3:196064354-196064354;G/C missense_variant False TG@p.D590N 1 0.311320755 ENSG00000042832 chr8:132887140-132887140;G/A missense_variant False TG@p.D517N 1 0.444444444 ENSG00000042832 chr8:132886921-132886921;G/A missense_variant False TG@p.D2553E 1 0.3 ENSG00000042832 chr8:133113508-133113508;T/A missense_variant False TG@p.D1672N 1 0.177777778 ENSG00000042832 chr8:132935837-132935837;G/A missense_variant False TFRC@p.R646C 1 0.516778523 ENSG00000072274 chr3:196053522-196053522;G/A missense_variant False TFRC@p.N317S 1 0.181818182 ENSG00000072274 chr3:196067608-196067608;T/C missense_variant False TFRC@p.L303M 1 0.375 ENSG00000072274 chr3:196067651-196067651;G/T missense_variant False TG@p.E230Q 1 0.785714286 ENSG00000042832 chr8:132881912-132881912;G/C missense_variant False TFRC@p.E294K 1 0.195652174 ENSG00000072274 chr3:196068052-196068052;C/T missense_variant False TFRC@p.E170K 1 0.141176471 ENSG00000072274 chr3:196072079-196072079;C/T missense_variant False TFRC@p.E163K 1 0.370786517 ENSG00000072274 chr3:196072100-196072100;C/T missense_variant False TFRC@p.A711T 1 0.157894737 ENSG00000072274 chr3:196052094-196052094;C/T missense_variant False TFR2@p.D194N 1 0.406779661 ENSG00000106327 chr7:100633450-100633450;C/T missense_variant False TFPT@p.R88H 1 0.126436782 ENSG00000105619 chr19:54114461-54114461;C/T missense_variant False TG@p.D766N 1 0.352941176 ENSG00000042832 chr8:132888103-132888103;G/A missense_variant False TG@p.E2695D 1 0.408602151 ENSG00000042832 chr8:133133557-133133557;G/C missense_variant False TFB2M@p.S45F 1 0.183908046 ENSG00000162851 chr1:246566005-246566005;G/A missense_variant False TG@p.L1717V 1 0.12745098 ENSG00000042832 chr8:132941458-132941458;C/G missense_variant False TG@p.R2371Q 1 0.333333333 ENSG00000042832 chr8:133029896-133029896;G/A missense_variant False TG@p.R1661C 1 0.073684211 ENSG00000042832 chr8:132935804-132935804;C/T missense_variant False TG@p.P424L 1 0.286624204 ENSG00000042832 chr8:132886643-132886643;C/T missense_variant False TG@p.L842V 1 0.161764706 ENSG00000042832 chr8:132888331-132888331;C/G missense_variant False TG@p.L819V 1 0.179487179 ENSG00000042832 chr8:132888262-132888262;C/G missense_variant False TG@p.L2081M 1 0.161157025 ENSG00000042832 chr8:132983391-132983391;C/A missense_variant False TG@p.L1262F 1 0.078947368 ENSG00000042832 chr8:132906839-132906839;G/T missense_variant False TG@p.E2739Q 1 0.258823529 ENSG00000042832 chr8:133134702-133134702;G/C missense_variant False TG@p.K1153N 1 0.325102881 ENSG00000042832 chr8:132901378-132901378;G/C missense_variant False TG@p.H892R 1 0.434782609 ENSG00000042832 chr8:132888482-132888482;A/G missense_variant False TG@p.G56S 1 0.071428571 ENSG00000042832 chr8:132868213-132868213;G/A missense_variant False TG@p.G474R 1 0.4 ENSG00000042832 chr8:132886792-132886792;G/C missense_variant False TG@p.G2010A 1 0.067567568 ENSG00000042832 chr8:132971847-132971847;G/C missense_variant False TG@p.E2741K 1 0.314606742 ENSG00000042832 chr8:133134708-133134708;G/A missense_variant False TFPT@p.E218Q 1 0.302631579 ENSG00000105619 chr19:54107160-54107160;C/G missense_variant False TFPI2@p.R222H 1 0.504950495 ENSG00000105825 chr7:93886863-93886863;C/T missense_variant False TFPI2@p.D84N 1 0.171428571 ENSG00000105825 chr7:93890158-93890158;C/T missense_variant False TFDP2@p.E307D 1 0.129411765 ENSG00000114126 chr3:141959804-141959804;C/G missense_variant False TFE3@p.S255A 1 0.3125 ENSG00000068323 chrX:49038214-49038214;A/C missense_variant False TFE3@p.R358W 1 0.254545455 ENSG00000068323 chrX:49033529-49033529;T/A missense_variant False TFE3@p.Q126H 1 0.454545455 ENSG00000068323 chrX:49039263-49039263;C/A missense_variant False TFE3@p.G482Dfs*44 1 0.267241379 ENSG00000068323 chrX:49030441-49030441;C/- frameshift_variant False TFDP2@p.G125V 1 0.211538462 ENSG00000114126 chr3:141978665-141978665;C/A missense_variant False TFDP2@p.F404L 1 0.4 ENSG00000114126 chr3:141952642-141952642;G/T missense_variant False TFDP2@p.D156N 1 0.101851852 ENSG00000114126 chr3:141978573-141978573;C/T missense_variant False TFIP11@p.S668C 1 0.076190476 ENSG00000100109 chr22:26494294-26494294;G/C missense_variant False TFDP1@p.Q68E 1 0.118421053 ENSG00000198176 chr13:113631638-113631638;C/G missense_variant False TFDP1@p.F146C 1 0.409090909 ENSG00000198176 chr13:113633248-113633248;T/G missense_variant False TFDP1@p.A243V 1 0.714285714 ENSG00000198176 chr13:113636017-113636017;C/T missense_variant False TFCP2L1@p.S210L 1 0.175824176 ENSG00000115112 chr2:121246846-121246846;G/A missense_variant False TFCP2L1@p.E378Q 1 0.346153846 ENSG00000115112 chr2:121234157-121234157;C/G missense_variant False TFCP2@p.R339Q 1 0.393617021 ENSG00000135457 chr12:51103714-51103714;C/T missense_variant False TFEB@p.E257Q 1 0.303030303 ENSG00000112561 chr6:41687128-41687128;C/G missense_variant False TFEB@p.E408K 1 0.235294118 ENSG00000112561 chr6:41684808-41684808;C/T missense_variant False TFEB@p.L191M 1 0.146788991 ENSG00000112561 chr6:41688007-41688007;G/T missense_variant False TFEB@p.S211Y 1 0.4 ENSG00000112561 chr6:41687946-41687946;G/T missense_variant False TFEC@p.D291H 1 0.345238095 ENSG00000105967 chr7:115940724-115940724;C/G missense_variant False TFEC@p.H230Y 1 0.474820144 ENSG00000105967 chr7:115940907-115940907;G/A missense_variant False TFEC@p.L33V 1 0.176470588 ENSG00000105967 chr7:115984345-115984345;G/C missense_variant False TFF1@p.M17V 1 0.3125 ENSG00000160182 chr21:42366447-42366447;T/C missense_variant False TFF2@p.P94R 1 0.113636364 ENSG00000160181 chr21:42347581-42347581;G/C missense_variant False TFF3@p.E36K 1 0.277777778 ENSG00000160180 chr21:42315311-42315311;C/T missense_variant False TFG@p.G355R 1 0.358024691 ENSG00000114354 chr3:100748391-100748391;G/A missense_variant False TFG@p.I13M 1 0.035874439 ENSG00000114354 chr3:100713724-100713724;C/G missense_variant False TFG@p.Q159E 1 0.109375 ENSG00000114354 chr3:100732567-100732567;C/G missense_variant False TFG@p.Q242H 1 0.301675978 ENSG00000114354 chr3:100744837-100744837;G/C missense_variant False TFG@p.R203C 1 0.150943396 ENSG00000114354 chr3:100736602-100736602;C/T missense_variant False TFG@p.R95K 1 0.593406593 ENSG00000114354 chr3:100728727-100728727;G/A missense_variant False TFIP11@p.F353L 1 0.161971831 ENSG00000100109 chr22:26499374-26499374;G/T missense_variant False TG@p.S1024L 1 0.508196721 ENSG00000042832 chr8:132897718-132897718;C/T missense_variant False TG@p.S1088I 1 0.604651163 ENSG00000042832 chr8:132898843-132898843;G/T missense_variant False TGDS@p.A172D 1 0.142857143 ENSG00000088451 chr13:94581131-94581131;G/T missense_variant False TGIF2LX@p.N103K 1 0.195121951 ENSG00000153779 chrX:89922394-89922394;T/A missense_variant False TGM2@p.C269S 1 0.26 ENSG00000198959 chr20:38146770-38146770;C/G missense_variant False TGM1@p.S75Y 1 0.192307692 ENSG00000092295 chr14:24262129-24262129;G/T missense_variant False TGM1@p.S550L 1 0.171428571 ENSG00000092295 chr14:24255250-24255250;G/A missense_variant False TGM1@p.R225L 1 0.241758242 ENSG00000092295 chr14:24260533-24260533;C/A missense_variant False TGM1@p.A681S 1 0.443708609 ENSG00000092295 chr14:24254711-24254711;C/A missense_variant False TGIF2LX@p.R116C 1 0.141414141 ENSG00000153779 chrX:89922431-89922431;C/T missense_variant False TGIF2LX@p.K182M 1 0.233333333 ENSG00000153779 chrX:89922630-89922630;A/T missense_variant False TGFBRAP1@p.S86L 1 0.171428571 ENSG00000135966 chr2:105308045-105308045;G/A missense_variant False TGIF2LX@p.G185R 1 0.304347826 ENSG00000153779 chrX:89922638-89922638;G/A missense_variant False TGIF2LX@p.E139K 1 0.463768116 ENSG00000153779 chrX:89922500-89922500;G/A missense_variant False TGIF2LX@p.D152N 1 0.94 ENSG00000153779 chrX:89922539-89922539;G/A missense_variant False TGIF2LX@p.A187T 1 0.157894737 ENSG00000153779 chrX:89922644-89922644;G/A missense_variant False TGIF2@p.E171K 1 0.53125 ENSG00000118707 chr20:36591228-36591228;G/A missense_variant False TGIF1@p.P216S 1 0.133333333 ENSG00000177426 chr18:3457827-3457827;C/T missense_variant False TGM2@p.E3K 1 0.44 ENSG00000198959 chr20:38165192-38165192;C/T missense_variant False TGM4@p.D293N 1 0.652173913 ENSG00000163810 chr3:44901837-44901837;G/A missense_variant False TGM4@p.D433Y 1 0.096296296 ENSG00000163810 chr3:44907170-44907170;G/T missense_variant False TGM4@p.E198K 1 0.4 ENSG00000163810 chr3:44896751-44896751;G/A missense_variant False TGM4@p.E299Q 1 0.148648649 ENSG00000163810 chr3:44901855-44901855;G/C missense_variant False TGM4@p.E313D 1 0.705882353 ENSG00000163810 chr3:44901899-44901899;G/C missense_variant False TGM4@p.E461Q 1 0.6 ENSG00000163810 chr3:44910143-44910143;G/C missense_variant False TGM4@p.E579K 1 0.107526882 ENSG00000163810 chr3:44911086-44911086;G/A missense_variant False TGM4@p.M334I 1 0.303703704 ENSG00000163810 chr3:44903914-44903914;G/A missense_variant False TGM4@p.V492M 1 0.061403509 ENSG00000163810 chr3:44910236-44910236;G/A missense_variant False TGM5@p.E154K 1 0.125 ENSG00000104055 chr15:43256663-43256663;C/T missense_variant False TGM5@p.E25K 1 0.340909091 ENSG00000104055 chr15:43260517-43260517;C/T missense_variant False TGM5@p.K328N 1 0.392857143 ENSG00000104055 chr15:43240869-43240869;C/A missense_variant False TGM5@p.R492W 1 0.12195122 ENSG00000104055 chr15:43235709-43235709;G/A missense_variant False TGM5@p.S580C 1 0.309090909 ENSG00000104055 chr15:43234905-43234905;G/C missense_variant False TGM6@p.E634K 1 0.298245614 ENSG00000166948 chr20:2430960-2430960;G/A missense_variant False TGM7@p.L494F 1 0.301587302 ENSG00000159495 chr15:43279823-43279823;G/A missense_variant False TGIF1@p.D179H 1 0.523076923 ENSG00000177426 chr18:3457716-3457716;G/C missense_variant False TGFBRAP1@p.Q819E 1 0.158940397 ENSG00000135966 chr2:105267511-105267511;G/C missense_variant False TGDS@p.P187S 1 0.451612903 ENSG00000088451 chr13:94579950-94579950;G/A missense_variant False TGFBR1@p.I201F 1 0.651515152 ENSG00000106799 chr9:99137885-99137885;A/T missense_variant False TGFBR2@p.I244F 1 0.406779661 ENSG00000163513 chr3:30671913-30671913;A/T missense_variant False TGFBR2@p.E440Lfs*19 1 0.532258065 ENSG00000163513 chr3:30674165-30674166;-/TT frameshift_variant False TGFBR2@p.E290K 1 0.797752809 ENSG00000163513 chr3:30672051-30672051;G/A missense_variant False TGFBR2@p.C461Lfs*7 1 0.150537634 ENSG00000163513 chr3:30674232-30674232;G/- frameshift_variant False TGFBR1@p.T186M 1 0.174757282 ENSG00000106799 chr9:99132722-99132722;C/T missense_variant False TGFBR1@p.R215P 1 0.103896104 ENSG00000106799 chr9:99137928-99137928;G/C missense_variant False TGFBR1@p.D400Y 1 0.382198953 ENSG00000106799 chr9:99146552-99146552;G/T missense_variant False TGFBRAP1@p.Q187E 1 0.142857143 ENSG00000135966 chr2:105307743-105307743;G/C missense_variant False TGFB3@p.D327H 1 0.378698225 ENSG00000119699 chr14:75961024-75961024;C/G missense_variant False TGFB1I1@p.H248Q 1 0.112676056 ENSG00000140682 chr16:31476041-31476041;C/A missense_variant False TGFB1I1@p.H17P 1 0.255813953 ENSG00000140682 chr16:31473477-31473477;A/C missense_variant False TGFB1I1@p.E268Q 1 0.151898734 ENSG00000140682 chr16:31476099-31476099;G/C missense_variant False TGFB1@p.S55F 1 0.307692308 ENSG00000105329 chr19:41352881-41352881;G/A missense_variant False TGFB1@p.R277C 1 0.054054054 ENSG00000105329 chr19:41341914-41341914;G/A missense_variant False TGFBR2@p.K262Qfs*11 1 0.37037037 ENSG00000163513 chr3:30671964-30671965;-/C frameshift_variant False TGFBR2@p.L492F 1 0.361445783 ENSG00000163513 chr3:30688463-30688463;G/C missense_variant False TGFBR2@p.M425I 1 0.80952381 ENSG00000163513 chr3:30674125-30674125;G/T missense_variant False TGFBR3@p.D648H 1 0.175675676 ENSG00000069702 chr1:91712467-91712467;C/G missense_variant False TGFBR3@p.E416K 1 0.05982906 ENSG00000069702 chr1:91720060-91720060;C/T missense_variant False TGFBR3@p.G290E 1 0.352941176 ENSG00000069702 chr1:91727675-91727675;C/T missense_variant False TGFBR3@p.G399A 1 0.325842697 ENSG00000069702 chr1:91720110-91720110;C/G missense_variant False TGFBR3@p.L263V 1 0.193877551 ENSG00000069702 chr1:91727757-91727757;G/C missense_variant False TGFBR3@p.L703V 1 0.235294118 ENSG00000069702 chr1:91712302-91712302;G/C missense_variant False TGFBR3@p.M741I 1 0.106060606 ENSG00000069702 chr1:91708727-91708727;C/T missense_variant False TGFBR3@p.P402L 1 0.543307087 ENSG00000069702 chr1:91720101-91720101;G/A missense_variant False TGFBR3@p.P565S 1 0.117021277 ENSG00000069702 chr1:91716582-91716582;G/A missense_variant False TGFBR3@p.R508W 1 0.339805825 ENSG00000069702 chr1:91719356-91719356;G/A missense_variant False TGFBRAP1@p.G557R 1 0.1875 ENSG00000135966 chr2:105273687-105273687;C/T missense_variant False TGFBRAP1@p.H48Y 1 0.084745763 ENSG00000135966 chr2:105308160-105308160;G/A missense_variant False TGFBRAP1@p.I116M 1 0.059405941 ENSG00000135966 chr2:105307954-105307954;G/C missense_variant False TGFBRAP1@p.K815E 1 0.36036036 ENSG00000135966 chr2:105267523-105267523;T/C missense_variant False TFCP2@p.E96Q 1 0.157142857 ENSG00000135457 chr12:51117736-51117736;C/G missense_variant False TFB2M@p.R285H 1 0.3125 ENSG00000162851 chr1:246548549-246548549;C/T missense_variant False SPTLC2@p.E61K 1 0.140350877 ENSG00000100596 chr14:77597332-77597332;C/T missense_variant False TEX14@p.Q226H 1 0.164705882 ENSG00000121101 chr17:58616282-58616282;C/G missense_variant False TEX14@p.S1275C 1 0.581081081 ENSG00000121101 chr17:58571952-58571952;G/C missense_variant False TEX14@p.S1197A 1 0.20979021 ENSG00000121101 chr17:58573241-58573241;A/C missense_variant False TEX14@p.R870T 1 0.222222222 ENSG00000121101 chr17:58588007-58588007;C/G missense_variant False TEX14@p.R412G 1 0.409090909 ENSG00000121101 chr17:58605098-58605098;G/C missense_variant False TEX14@p.Q600E 1 0.275 ENSG00000121101 chr17:58599565-58599565;G/C missense_variant False TEX14@p.Q521H 1 0.347457627 ENSG00000121101 chr17:58601939-58601939;C/G missense_variant False TEX14@p.P646A 1 0.182692308 ENSG00000121101 chr17:58599427-58599427;G/C missense_variant False TEX15@p.A2148V 1 0.416666667 ENSG00000133863 chr8:30842575-30842575;G/A missense_variant False TEX14@p.M908I 1 0.381578947 ENSG00000121101 chr17:58587663-58587663;C/G missense_variant False TEX14@p.L1330P 1 0.120879121 ENSG00000121101 chr17:58569227-58569227;A/G missense_variant False TEX14@p.F1322L 1 0.837209302 ENSG00000121101 chr17:58569250-58569250;G/C missense_variant False TEX14@p.E320Q 1 0.361702128 ENSG00000121101 chr17:58613486-58613486;C/G missense_variant False TEX14@p.E1276Q 1 0.106382979 ENSG00000121101 chr17:58571950-58571950;C/G missense_variant False TEX14@p.D505H 1 0.131578947 ENSG00000121101 chr17:58602432-58602432;C/G missense_variant False TEX15@p.A1413E 1 0.5 ENSG00000133863 chr8:30844780-30844780;G/T missense_variant False TEX15@p.D1440Y 1 0.222222222 ENSG00000133863 chr8:30844700-30844700;C/A missense_variant False TFB2M@p.A122T 1 0.88372093 ENSG00000162851 chr1:246564384-246564384;C/T missense_variant False TEX15@p.G891E 1 0.246153846 ENSG00000133863 chr8:30846346-30846346;C/T missense_variant False TEX15@p.R1717Q 1 0.15 ENSG00000133863 chr8:30843868-30843868;C/T missense_variant False TEX15@p.R1067T 1 0.348837209 ENSG00000133863 chr8:30845818-30845818;C/G missense_variant False TEX15@p.P2690A 1 0.097826087 ENSG00000133863 chr8:30837067-30837067;G/C missense_variant False TEX15@p.M2233I 1 0.352112676 ENSG00000133863 chr8:30842319-30842319;C/T missense_variant False TEX15@p.L1825M 1 0.25862069 ENSG00000133863 chr8:30843545-30843545;G/T missense_variant False TEX15@p.I23T 1 0.483516484 ENSG00000133863 chr8:30848950-30848950;A/G missense_variant False TEX15@p.G738V 1 0.156626506 ENSG00000133863 chr8:30846805-30846805;C/A missense_variant False TEX15@p.E1771Q 1 0.2 ENSG00000133863 chr8:30843707-30843707;C/G missense_variant False TEX15@p.F706C 1 0.476744186 ENSG00000133863 chr8:30846901-30846901;A/C missense_variant False TEX15@p.F1868C 1 0.415492958 ENSG00000133863 chr8:30843415-30843415;A/C missense_variant False TEX15@p.F1040L 1 0.459459459 ENSG00000133863 chr8:30845898-30845898;G/T missense_variant False TEX15@p.E528K 1 0.338983051 ENSG00000133863 chr8:30847436-30847436;C/T missense_variant False TEX15@p.E406Q 1 0.324675325 ENSG00000133863 chr8:30847802-30847802;C/G missense_variant False TEX15@p.E251K 1 0.31372549 ENSG00000133863 chr8:30848267-30848267;C/T missense_variant False TEX14@p.D1425Y 1 0.068965517 ENSG00000121101 chr17:58561542-58561542;C/A missense_variant False TEX13B@p.A230V 1 0.232044199 ENSG00000170925 chrX:107981330-107981330;G/A missense_variant False TEX13A@p.E37D 1 0.243243243 ENSG00000268629 chrX:105220287-105220287;C/G missense_variant False TET2@p.E330K 1 0.605263158 ENSG00000168769 chr4:105234930-105234930;G/A missense_variant True TET3@p.A1524D 1 0.085714286 ENSG00000187605 chr2:74101359-74101359;C/A missense_variant False TET2@p.S466C 1 0.26 ENSG00000168769 chr4:105235339-105235339;C/G missense_variant True TET2@p.Q417K 1 0.402173913 ENSG00000168769 chr4:105235191-105235191;C/A missense_variant True TET2@p.P989L 1 0.527272727 ENSG00000168769 chr4:105236908-105236908;C/T missense_variant True TET2@p.L426V 1 0.392405063 ENSG00000168769 chr4:105235218-105235218;C/G missense_variant True TET2@p.E628K 1 0.147058824 ENSG00000168769 chr4:105235824-105235824;G/A missense_variant True TET2@p.D768H 1 0.406779661 ENSG00000168769 chr4:105236244-105236244;G/C missense_variant True TEX13A@p.D394Y 1 0.870786517 ENSG00000268629 chrX:105219014-105219014;C/A missense_variant False TET1@p.T75R 1 0.362903226 ENSG00000138336 chr10:68572562-68572562;C/G missense_variant False TET1@p.T607S 1 0.628571429 ENSG00000138336 chr10:68574158-68574158;C/G missense_variant False TET1@p.S984L 1 0.606060606 ENSG00000138336 chr10:68645680-68645680;C/T missense_variant False TET1@p.S901L 1 0.072 ENSG00000138336 chr10:68645431-68645431;C/T missense_variant False TET1@p.S806F 1 0.290322581 ENSG00000138336 chr10:68645146-68645146;C/T missense_variant False TET1@p.S527L 1 0.326923077 ENSG00000138336 chr10:68573918-68573918;C/T missense_variant False TET3@p.E1108K 1 0.5 ENSG00000187605 chr2:74099330-74099330;G/A missense_variant False TET3@p.E244K 1 0.517241379 ENSG00000187605 chr2:74046647-74046647;G/A missense_variant False TET3@p.K758N 1 0.1875 ENSG00000187605 chr2:74048191-74048191;G/C missense_variant False TET3@p.P1658L 1 0.22972973 ENSG00000187605 chr2:74101761-74101761;C/T missense_variant False TET3@p.Q330H 1 0.480769231 ENSG00000187605 chr2:74046907-74046907;G/C missense_variant False TET3@p.Q341H 1 0.4 ENSG00000187605 chr2:74046940-74046940;G/C missense_variant False TET3@p.R1162W 1 0.530612245 ENSG00000187605 chr2:74099492-74099492;C/T missense_variant False TET3@p.S1277C 1 0.2 ENSG00000187605 chr2:74100618-74100618;C/G missense_variant False TET3@p.Y1782C 1 0.454545455 ENSG00000187605 chr2:74102133-74102133;A/G missense_variant False TEX10@p.K24R 1 0.075 ENSG00000136891 chr9:100349293-100349293;T/C missense_variant False TEX10@p.K586E 1 0.326315789 ENSG00000136891 chr9:100327832-100327832;T/C missense_variant False TEX10@p.S425C 1 0.297297297 ENSG00000136891 chr9:100330146-100330146;G/C missense_variant False TEX11@p.D285N 1 0.285714286 ENSG00000120498 chrX:70740736-70740736;C/T missense_variant False TEX11@p.E504Q 1 0.46875 ENSG00000120498 chrX:70651468-70651468;C/G missense_variant False TEX11@p.E887K 1 0.25 ENSG00000120498 chrX:70529906-70529906;C/T missense_variant False TEX11@p.S114L 1 0.096774194 ENSG00000120498 chrX:70860885-70860885;G/A missense_variant False TEX11@p.V919L 1 0.140625 ENSG00000120498 chrX:70529163-70529163;C/A missense_variant False TEX15@p.R782K 1 0.089108911 ENSG00000133863 chr8:30846673-30846673;C/T missense_variant False TEX15@p.S30F 1 0.114285714 ENSG00000133863 chr8:30848929-30848929;G/A missense_variant False TEX15@p.S750I 1 0.461538462 ENSG00000133863 chr8:30846769-30846769;C/A missense_variant False TF@p.R273Q 1 0.194915254 ENSG00000091513 chr3:133756957-133756957;G/A missense_variant False TFAP2A@p.Q375E 1 0.083969466 ENSG00000137203 chr6:10398614-10398614;G/C missense_variant False TFAP2A@p.Q356E 1 0.147826087 ENSG00000137203 chr6:10398671-10398671;G/C missense_variant False TFAP2A@p.Q345H 1 0.05952381 ENSG00000137203 chr6:10398702-10398702;C/G missense_variant False TFAP2A@p.P74L 1 0.118421053 ENSG00000137203 chr6:10410166-10410166;G/A missense_variant False TFAP2A@p.L323F 1 0.260273973 ENSG00000137203 chr6:10400512-10400512;G/A missense_variant False TFAP2A@p.K436N 1 0.123209169 ENSG00000137203 chr6:10398429-10398429;C/G missense_variant False TF@p.K618N 1 0.392857143 ENSG00000091513 chr3:133775599-133775599;G/C missense_variant False TEX55@p.I67V 1 0.535714286 ENSG00000163424 chr3:119146388-119146388;A/G missense_variant False TF@p.K399N 1 0.305785124 ENSG00000091513 chr3:133759323-133759323;G/T missense_variant False TF@p.G294V 1 0.3 ENSG00000091513 chr3:133757779-133757779;G/T missense_variant False TEX9@p.S273L 1 0.22 ENSG00000151575 chr15:56394824-56394824;C/T missense_variant False TEX9@p.Q228E 1 0.178571429 ENSG00000151575 chr15:56394688-56394688;C/G missense_variant False TEX9@p.E45Q 1 0.341463415 ENSG00000151575 chr15:56373454-56373454;G/C missense_variant False TEX55@p.Q177E 1 0.343558282 ENSG00000163424 chr3:119146718-119146718;C/G missense_variant False TFAP2A@p.R325P 1 0.277777778 ENSG00000137203 chr6:10400505-10400505;C/G missense_variant False TFAP2A@p.S193F 1 0.44047619 ENSG00000137203 chr6:10404700-10404700;G/A missense_variant False TFAP2A@p.T226N 1 0.142857143 ENSG00000137203 chr6:10404601-10404601;G/T missense_variant False TFAP2B@p.S242A 1 0.4 ENSG00000008196 chr6:50836183-50836183;T/G missense_variant False TFAP2B@p.S52L 1 0.322580645 ENSG00000008196 chr6:50823480-50823480;C/T missense_variant False TFAP2B@p.S62L 1 0.484848485 ENSG00000008196 chr6:50823510-50823510;C/T missense_variant False TFAP2C@p.A43V 1 0.056910569 ENSG00000087510 chr20:56631284-56631284;C/T missense_variant False TFAP2C@p.E324K 1 0.507462687 ENSG00000087510 chr20:56636657-56636657;G/A missense_variant False TFAP2C@p.K417I 1 0.05952381 ENSG00000087510 chr20:56637910-56637910;A/T missense_variant False TFAP2C@p.R276W 1 0.223684211 ENSG00000087510 chr20:56634172-56634172;C/T missense_variant False TFAP2D@p.D17Y 1 0.263513514 ENSG00000008197 chr6:50715125-50715125;G/T missense_variant False TFAP2D@p.L253F 1 0.37 ENSG00000008197 chr6:50729016-50729016;G/C missense_variant False TFAP2E@p.L345M 1 0.181818182 ENSG00000116819 chr1:35590762-35590762;C/A missense_variant False TFB1M@p.E118Q 1 0.510638298 ENSG00000029639 chr6:155298519-155298519;C/G missense_variant False TFB1M@p.E61K 1 0.366666667 ENSG00000029639 chr6:155311292-155311292;C/T missense_variant False TFB1M@p.G5E 1 0.2 ENSG00000029639 chr6:155314415-155314415;C/T missense_variant False TFB1M@p.R279G 1 0.234848485 ENSG00000029639 chr6:155258042-155258042;T/C missense_variant False TEX55@p.Q172H 1 0.214953271 ENSG00000163424 chr3:119146705-119146705;G/C missense_variant False TEX55@p.E409Q 1 0.192771084 ENSG00000163424 chr3:119147414-119147414;G/C missense_variant False TEX15@p.T2345I 1 0.666666667 ENSG00000133863 chr8:30839945-30839945;G/A missense_variant False TEX26@p.R149T 1 0.152777778 ENSG00000175664 chr13:30957006-30957006;G/C missense_variant False TEX2@p.E838Q 1 0.037878788 ENSG00000136478 chr17:64177384-64177384;C/G missense_variant False TEX2@p.E713K 1 0.166666667 ENSG00000136478 chr17:64193598-64193598;C/T missense_variant False TEX2@p.E375K 1 0.217391304 ENSG00000136478 chr17:64213095-64213095;C/T missense_variant False TEX29@p.I77M 1 0.375586854 ENSG00000153495 chr13:111339924-111339924;C/G missense_variant False TEX29@p.E6K 1 0.425641026 ENSG00000153495 chr13:111320906-111320906;G/A missense_variant False TEX26@p.T255S 1 0.410714286 ENSG00000175664 chr13:30969001-30969001;A/T missense_variant False TEX26@p.L13F 1 0.428571429 ENSG00000175664 chr13:30932752-30932752;C/T missense_variant False TEX47@p.M129I 1 0.173913043 ENSG00000164645 chr7:88794556-88794556;C/T missense_variant False TEX26@p.H281D 1 0.454545455 ENSG00000175664 chr13:30974878-30974878;C/G missense_variant False TEX26@p.E134K 1 0.244897959 ENSG00000175664 chr13:30956960-30956960;G/A missense_variant False TEX264@p.S71C 1 0.142857143 ENSG00000164081 chr3:51674516-51674516;C/G missense_variant False TEX264@p.S272C 1 0.375 ENSG00000164081 chr3:51703889-51703889;C/G missense_variant False TEX15@p.V1464L 1 0.158730159 ENSG00000133863 chr8:30844628-30844628;C/G missense_variant False TEX15@p.T398A 1 0.448717949 ENSG00000133863 chr8:30847826-30847826;T/C missense_variant False TEX2@p.L774F 1 0.142857143 ENSG00000136478 chr17:64188272-64188272;G/A missense_variant False TEX2@p.M851I 1 0.240601504 ENSG00000136478 chr17:64177343-64177343;C/T missense_variant False TEX2@p.M988L 1 0.152173913 ENSG00000136478 chr17:64153123-64153123;T/G missense_variant False TEX2@p.N552T 1 0.454545455 ENSG00000136478 chr17:64195085-64195085;T/G missense_variant False TEX2@p.P148H 1 0.325842697 ENSG00000136478 chr17:64213775-64213775;G/T missense_variant False TEX2@p.P301R 1 0.277108434 ENSG00000136478 chr17:64213316-64213316;G/C missense_variant False TEX2@p.P492R 1 0.41025641 ENSG00000136478 chr17:64212743-64212743;G/C missense_variant False TEX2@p.S385F 1 0.490909091 ENSG00000136478 chr17:64213064-64213064;G/A missense_variant False TEX30@p.E221K 1 0.139240506 ENSG00000151287 chr13:102766424-102766424;C/T missense_variant False TEX33@p.I168T 1 0.214285714 ENSG00000185264 chr22:36999971-36999971;A/G missense_variant False TEX33@p.Q165E 1 0.092105263 ENSG00000185264 chr22:36999981-36999981;G/C missense_variant False TEX37@p.D66H 1 0.08 ENSG00000172073 chr2:88529127-88529127;G/C missense_variant False TEX44@p.E206K 1 0.069767442 ENSG00000177673 chr2:231593567-231593567;G/A missense_variant False TEX45@p.A387V 1 0.315789474 ENSG00000198723 chr19:7506118-7506118;C/T missense_variant False TEX45@p.D405H 1 0.384615385 ENSG00000198723 chr19:7507061-7507061;G/C missense_variant False TEX45@p.E380D 1 0.461538462 ENSG00000198723 chr19:7506098-7506098;G/T missense_variant False TEX45@p.L314R 1 0.413793103 ENSG00000198723 chr19:7505562-7505562;T/G missense_variant False TGOLN2@p.D177G 1 0.064777328 ENSG00000152291 chr2:85327202-85327202;T/C missense_variant False TGOLN2@p.G113D 1 0.594051447 ENSG00000152291 chr2:85327394-85327394;C/T missense_variant False TGOLN2@p.G357A 1 0.166666667 ENSG00000152291 chr2:85326662-85326662;C/G missense_variant False THSD7B@p.R1021I 1 0.451612903 ENSG00000144229 chr2:137450947-137450947;G/T missense_variant False THSD7B@p.S1416I 1 0.201680672 ENSG00000144229 chr2:137656931-137656931;G/T missense_variant False THSD7B@p.R91I 1 0.529411765 ENSG00000144229 chr2:137056552-137056552;G/T missense_variant False THSD7B@p.R701G 1 0.368421053 ENSG00000144229 chr2:137233084-137233084;C/G missense_variant False THSD7B@p.R564Vfs*3 1 0.314814815 ENSG00000144229 chr2:137170905-137170905;C/- frameshift_variant False THSD7B@p.R1473G 1 0.375 ENSG00000144229 chr2:137659699-137659699;C/G missense_variant False THSD7B@p.R1447Q 1 0.931034483 ENSG00000144229 chr2:137657119-137657119;G/A missense_variant False THSD7B@p.Q1400L 1 0.115384615 ENSG00000144229 chr2:137656883-137656883;A/T missense_variant False THSD7B@p.T820M 1 0.16 ENSG00000144229 chr2:137275985-137275985;C/T missense_variant False THSD7B@p.P480S 1 0.151515152 ENSG00000144229 chr2:137160281-137160281;C/T missense_variant False THSD7B@p.N1445Y 1 0.445945946 ENSG00000144229 chr2:137657112-137657112;A/T missense_variant False THSD7B@p.F1483L 1 0.363636364 ENSG00000144229 chr2:137659729-137659729;T/C missense_variant False THSD7B@p.E919K 1 0.240740741 ENSG00000144229 chr2:137411668-137411668;G/A missense_variant False THSD7B@p.E1395Q 1 0.43373494 ENSG00000144229 chr2:137656867-137656867;G/C missense_variant False THSD7B@p.E130Q 1 0.350877193 ENSG00000144229 chr2:137056668-137056668;G/C missense_variant False THSD7B@p.T726S 1 0.216216216 ENSG00000144229 chr2:137242482-137242482;A/T missense_variant False THTPA@p.N213S 1 0.305555556 ENSG00000259431 chr14:23558785-23558785;A/G missense_variant False TGOLN2@p.H43Y 1 0.279411765 ENSG00000152291 chr2:85327605-85327605;G/A missense_variant False THYN1@p.R66C 1 0.188172043 ENSG00000151500 chr11:134251156-134251156;G/A missense_variant False TIAM1@p.E1351K 1 0.183333333 ENSG00000156299 chr21:31127147-31127147;C/T missense_variant False TIAM1@p.E1233Q 1 0.2 ENSG00000156299 chr21:31141195-31141195;C/G missense_variant False TIAL1@p.N81S 1 0.416666667 ENSG00000151923 chr10:119582210-119582210;T/C missense_variant False TIAL1@p.C272W 1 0.537037037 ENSG00000151923 chr10:119577125-119577125;G/C missense_variant False TIAF1@p.R9T 1 0.142857143 None chr17:29074174-29074174;C/G missense_variant False TIA1@p.E4K 1 0.384615385 ENSG00000116001 chr2:70248421-70248421;C/T missense_variant False THY1@p.R75C 1 0.106870229 ENSG00000154096 chr11:119420201-119420201;G/A missense_variant False THUMPD1@p.E266G 1 0.211382114 ENSG00000066654 chr16:20737145-20737145;T/C missense_variant False THY1@p.K59N 1 0.069444444 ENSG00000154096 chr11:119420247-119420247;C/G missense_variant False THY1@p.E57Q 1 0.361111111 ENSG00000154096 chr11:119420255-119420255;C/G missense_variant False THUMPD3@p.Q487E 1 0.241666667 ENSG00000134077 chr3:9384623-9384623;C/G missense_variant False THUMPD3@p.I184M 1 0.220588235 ENSG00000134077 chr3:9371281-9371281;C/G missense_variant False THUMPD3@p.H183D 1 0.252747253 ENSG00000134077 chr3:9371276-9371276;C/G missense_variant False THUMPD2@p.E459K 1 0.377880184 ENSG00000138050 chr2:39736872-39736872;C/T missense_variant False THSD7B@p.E1077Q 1 0.137931034 ENSG00000144229 chr2:137563305-137563305;G/C missense_variant False THSD7B@p.D1390H 1 0.427083333 ENSG00000144229 chr2:137656852-137656852;G/C missense_variant False THSD7B@p.A171D 1 0.179104478 ENSG00000144229 chr2:137056792-137056792;C/A missense_variant False THRSP@p.V40M 1 0.146666667 ENSG00000151365 chr11:78063999-78063999;G/A missense_variant False THSD1@p.G97S 1 0.444444444 ENSG00000136114 chr13:52397964-52397964;C/T missense_variant False THSD1@p.E514D 1 0.323809524 ENSG00000136114 chr13:52378428-52378428;C/G missense_variant False THSD1@p.E187Q 1 0.224489796 ENSG00000136114 chr13:52397694-52397694;C/G missense_variant False THSD1@p.D561H 1 0.695238095 ENSG00000136114 chr13:52378289-52378289;C/G missense_variant False THSD1@p.C90F 1 0.146341463 ENSG00000136114 chr13:52397984-52397984;C/A missense_variant False THSD1@p.C688Y 1 0.531914894 ENSG00000136114 chr13:52377907-52377907;C/T missense_variant False THRSP@p.V24A 1 0.043848965 ENSG00000151365 chr11:78063952-78063952;T/C missense_variant False THSD7A@p.S936Vfs*15 1 0.282258065 ENSG00000005108 chr7:11446319-11446319;T/- frameshift_variant False THRSP@p.E99K 1 0.361111111 ENSG00000151365 chr11:78064176-78064176;G/A missense_variant False THRB@p.R158Q 1 0.194444444 ENSG00000151090 chr3:24146734-24146734;C/T missense_variant False THRB@p.E404K 1 0.102803738 ENSG00000151090 chr3:24123060-24123060;C/T missense_variant False THRAP3@p.S786L 1 0.4 ENSG00000054118 chr1:36300939-36300939;C/T missense_variant False THRAP3@p.S575C 1 0.12244898 ENSG00000054118 chr1:36289743-36289743;C/G missense_variant False THRAP3@p.R89L 1 0.175 ENSG00000054118 chr1:36286496-36286496;G/T missense_variant False THSD1@p.L559M 1 0.080246914 ENSG00000136114 chr13:52378295-52378295;G/T missense_variant False THSD1@p.Q70E 1 0.363636364 ENSG00000136114 chr13:52398045-52398045;G/C missense_variant False THSD1@p.R324K 1 0.272727273 ENSG00000136114 chr13:52397282-52397282;C/T missense_variant False THSD4@p.C731W 1 0.45 ENSG00000187720 chr15:71746994-71746994;C/G missense_variant False THSD4@p.E628Q 1 0.323529412 ENSG00000187720 chr15:71737983-71737983;G/C missense_variant False THSD4@p.E651Q 1 0.05899705 ENSG00000187720 chr15:71745150-71745150;G/C missense_variant False THSD4@p.L694Gfs*32 1 0.146341463 ENSG00000187720 chr15:71746880-71746881;CC/- frameshift_variant False THSD4@p.Y451D 1 0.493150685 ENSG00000187720 chr15:71660728-71660728;T/G missense_variant False THSD7A@p.C1302R 1 0.285714286 ENSG00000005108 chr7:11407318-11407318;A/G missense_variant False THSD7A@p.E1465Q 1 0.741935484 ENSG00000005108 chr7:11401813-11401813;C/G missense_variant False THSD7A@p.E151D 1 0.112903226 ENSG00000005108 chr7:11636699-11636699;T/A missense_variant False THSD7A@p.E184Q 1 0.130434783 ENSG00000005108 chr7:11636602-11636602;C/G missense_variant False THSD7A@p.E952K 1 0.225409836 ENSG00000005108 chr7:11446271-11446271;C/T missense_variant False THSD7A@p.M489T 1 0.5 ENSG00000005108 chr7:11543105-11543105;A/G missense_variant False THSD7A@p.R1568K 1 0.385542169 ENSG00000005108 chr7:11379168-11379168;C/T missense_variant False THSD7A@p.R277C 1 0.338842975 ENSG00000005108 chr7:11636323-11636323;G/A missense_variant False THSD7A@p.S198F 1 0.282608696 ENSG00000005108 chr7:11636559-11636559;G/A missense_variant False TIAM1@p.E399K 1 0.583333333 ENSG00000156299 chr21:31251958-31251958;C/T missense_variant False TIAM1@p.I175M 1 0.265536723 ENSG00000156299 chr21:31266448-31266448;G/C missense_variant False TIAM1@p.L611F 1 0.065789474 ENSG00000156299 chr21:31223570-31223570;G/A missense_variant False TICRR@p.S163L 1 0.125 ENSG00000140534 chr15:89576074-89576074;C/T missense_variant False TIE1@p.E842Q 1 0.084158416 ENSG00000066056 chr1:43317313-43317313;G/C missense_variant False TIE1@p.E1136K 1 0.133333333 ENSG00000066056 chr1:43322711-43322711;G/A missense_variant False TIE1@p.D488G 1 0.286885246 ENSG00000066056 chr1:43311800-43311800;A/G missense_variant False TICRR@p.T616A 1 0.163265306 ENSG00000140534 chr15:89595557-89595557;A/G missense_variant False TICRR@p.S370R 1 0.219512195 ENSG00000140534 chr15:89584461-89584461;C/G missense_variant False TICRR@p.S1827C 1 0.065934066 ENSG00000140534 chr15:89625939-89625939;C/G missense_variant False TICRR@p.S1031C 1 0.19047619 ENSG00000140534 chr15:89619780-89619780;C/G missense_variant False TICRR@p.G992A 1 0.364806867 ENSG00000140534 chr15:89618166-89618166;G/C missense_variant False TICRR@p.R832G 1 0.298701299 ENSG00000140534 chr15:89601903-89601903;C/G missense_variant False TICRR@p.R1054K 1 0.28 ENSG00000140534 chr15:89621399-89621399;G/A missense_variant False TICRR@p.Q798E 1 0.298701299 ENSG00000140534 chr15:89601801-89601801;C/G missense_variant False TICRR@p.L774F 1 0.447619048 ENSG00000140534 chr15:89601563-89601563;G/C missense_variant False TICRR@p.L509F 1 0.406779661 ENSG00000140534 chr15:89592162-89592162;G/C missense_variant False TICRR@p.I781M 1 0.234234234 ENSG00000140534 chr15:89601752-89601752;C/G missense_variant False TIE1@p.L1043I 1 0.132075472 ENSG00000066056 chr1:43321288-43321288;C/A missense_variant False TIE1@p.L638I 1 0.448275862 ENSG00000066056 chr1:43312586-43312586;C/A missense_variant False TIE1@p.L894F 1 0.718309859 ENSG00000066056 chr1:43317625-43317625;G/T missense_variant False TIE1@p.M507I 1 0.401639344 ENSG00000066056 chr1:43312022-43312022;G/T missense_variant False TIE1@p.R79H 1 0.6 ENSG00000066056 chr1:43305028-43305028;G/A missense_variant False TIE1@p.S598L 1 0.083333333 ENSG00000066056 chr1:43312467-43312467;C/T missense_variant False TIFA@p.Y163C 1 0.2 ENSG00000145365 chr4:112277929-112277929;T/C missense_variant False TIFAB@p.G161R 1 0.137931034 ENSG00000255833 chr5:135449459-135449459;C/G missense_variant False TIFAB@p.P157A 1 0.195652174 ENSG00000255833 chr5:135449471-135449471;G/C missense_variant False TIGAR@p.M257V 1 0.227272727 ENSG00000078237 chr12:4352647-4352647;A/G missense_variant False TIGAR@p.N181D 1 0.46728972 ENSG00000078237 chr12:4352419-4352419;A/G missense_variant False TIGD2@p.D93N 1 0.241758242 ENSG00000180346 chr4:89113251-89113251;G/A missense_variant False TIGD2@p.E77Q 1 0.139240506 ENSG00000180346 chr4:89113203-89113203;G/C missense_variant False TIGD2@p.E85Q 1 0.202380952 ENSG00000180346 chr4:89113227-89113227;G/C missense_variant False TIGD2@p.I173M 1 0.467741935 ENSG00000180346 chr4:89113493-89113493;T/G missense_variant False TIGD2@p.L193V 1 0.183673469 ENSG00000180346 chr4:89113551-89113551;C/G missense_variant False TIGD2@p.S305L 1 0.170212766 ENSG00000180346 chr4:89113888-89113888;C/T missense_variant False TICRR@p.I1124M 1 0.04822335 ENSG00000140534 chr15:89623682-89623682;C/G missense_variant False TICRR@p.E946Q 1 0.514285714 ENSG00000140534 chr15:89608916-89608916;G/C missense_variant False TIAM1@p.M576I 1 0.301204819 ENSG00000156299 chr21:31225807-31225807;C/T missense_variant False TIAM2@p.E1652K 1 0.105263158 ENSG00000146426 chr6:155256882-155256882;G/A missense_variant False TIAM2@p.I1104V 1 0.413043478 ENSG00000146426 chr6:155240671-155240671;A/G missense_variant False TIAM2@p.H736Y 1 0.161073826 ENSG00000146426 chr6:155164592-155164592;C/T missense_variant False TIAM2@p.H1047Q 1 0.24 ENSG00000146426 chr6:155211280-155211280;C/A missense_variant False TIAM2@p.F1661L 1 0.378378378 ENSG00000146426 chr6:155256911-155256911;C/G missense_variant False TIAM2@p.E705Q 1 0.306930693 ENSG00000146426 chr6:155164499-155164499;G/C missense_variant False TIAM2@p.E481Q 1 0.310344828 ENSG00000146426 chr6:155137423-155137423;G/C missense_variant False TIAM2@p.D1163N 1 0.119205298 ENSG00000146426 chr6:155244727-155244727;G/A missense_variant False TICRR@p.E215K 1 0.476190476 ENSG00000140534 chr15:89576229-89576229;G/A missense_variant False TIAM2@p.A483T 1 0.423728814 ENSG00000146426 chr6:155137429-155137429;G/A missense_variant False TIAM1@p.T302del 1 0.184210526 ENSG00000156299 chr21:31266066-31266068;TGG/- inframe_deletion False TIAM1@p.S864F 1 0.12345679 ENSG00000156299 chr21:31187072-31187072;G/A missense_variant False TIAM1@p.S489C 1 0.846153846 ENSG00000156299 chr21:31245607-31245607;T/A missense_variant False TIAM1@p.S350C 1 0.151006711 ENSG00000156299 chr21:31252104-31252104;G/C missense_variant False TIAM1@p.R1449del 1 0.282051282 ENSG00000156299 chr21:31120796-31120798;GCC/- inframe_deletion False TIAM2@p.L644R 1 0.25 ENSG00000146426 chr6:155148237-155148237;T/G missense_variant False TIAM2@p.P1248Q 1 0.343283582 ENSG00000146426 chr6:155248090-155248090;C/A missense_variant False TIAM2@p.P867L 1 0.235294118 ENSG00000146426 chr6:155179115-155179115;C/T missense_variant False TIAM2@p.R156C 1 0.16 ENSG00000146426 chr6:155129689-155129689;C/T missense_variant False TIAM2@p.R695C 1 0.898734177 ENSG00000146426 chr6:155164469-155164469;C/T missense_variant False TIAM2@p.S276I 1 0.689320388 ENSG00000146426 chr6:155130050-155130050;G/T missense_variant False TIAM2@p.S314L 1 0.413793103 ENSG00000146426 chr6:155130164-155130164;C/T missense_variant False TIAM2@p.S391L 1 0.407407407 ENSG00000146426 chr6:155130395-155130395;C/T missense_variant False TICAM1@p.C462_H467del 1 0.147058824 ENSG00000127666 chr19:4816977-4816994;GTGCAGGCTCAGGCGACA/- inframe_deletion False TICAM1@p.E493D 1 0.184210526 ENSG00000127666 chr19:4816899-4816899;C/G missense_variant False TICAM1@p.F382L 1 0.367346939 ENSG00000127666 chr19:4817232-4817232;G/C missense_variant False TICAM1@p.G437R 1 0.588235294 ENSG00000127666 chr19:4817069-4817069;C/T missense_variant False TICAM1@p.P273A 1 0.38 ENSG00000127666 chr19:4817561-4817561;G/C missense_variant False TICAM1@p.Q583H 1 0.113207547 ENSG00000127666 chr19:4816629-4816629;C/A missense_variant False TICAM1@p.S212C 1 0.320512821 ENSG00000127666 chr19:4817743-4817743;G/C missense_variant False TICAM1@p.V398L 1 0.142857143 ENSG00000127666 chr19:4817186-4817186;C/G missense_variant False TICRR@p.D1663H 1 0.093457944 ENSG00000140534 chr15:89625297-89625297;G/C missense_variant False THRAP3@p.R886H 1 0.903846154 ENSG00000054118 chr1:36303806-36303806;G/A missense_variant False THRAP3@p.R831Q 1 0.086956522 ENSG00000054118 chr1:36301074-36301074;G/A missense_variant False THRAP3@p.R39C 1 0.358208955 ENSG00000054118 chr1:36282678-36282678;C/T missense_variant False THAP7@p.K253E 1 0.26984127 ENSG00000184436 chr22:21000053-21000053;T/C missense_variant False THAP9@p.W38C 1 0.349206349 ENSG00000168152 chr4:82904769-82904769;G/C missense_variant False THAP9@p.L894Cfs*2 1 0.179487179 ENSG00000168152 chr4:82918891-82918891;T/- frameshift_variant False THAP9@p.E207Q 1 0.125 ENSG00000168152 chr4:82907823-82907823;G/C missense_variant False THAP8@p.F26L 1 0.134146341 ENSG00000161277 chr19:36054140-36054140;G/C missense_variant False THAP7@p.W240C 1 0.384615385 ENSG00000184436 chr22:21000090-21000090;C/G missense_variant False THAP7@p.S118R 1 0.058461538 ENSG00000184436 chr22:21000670-21000670;G/T missense_variant False THAP7@p.H108Qfs*8 1 0.158333333 ENSG00000184436 chr22:21000699-21000700;TG/- frameshift_variant False THAP12@p.R703C 1 0.505882353 ENSG00000137492 chr11:76351043-76351043;G/A missense_variant False THAP7@p.D249H 1 0.212765957 ENSG00000184436 chr22:21000065-21000065;C/G missense_variant False THAP6@p.W209C 1 0.236111111 ENSG00000174796 chr4:75527172-75527172;G/C missense_variant False THAP4@p.G225E 1 0.297029703 ENSG00000176946 chr2:241633483-241633483;C/T missense_variant False THAP4@p.E517Q 1 0.387755102 ENSG00000176946 chr2:241601961-241601961;C/G missense_variant False THAP3@p.R60W 1 0.442307692 ENSG00000041988 chr1:6628602-6628602;C/T missense_variant False THAP3@p.F46L 1 0.107142857 ENSG00000041988 chr1:6628562-6628562;C/A missense_variant False THAP9@p.W672Gfs*30 1 0.108910891 ENSG00000168152 chr4:82918224-82918224;T/- frameshift_variant False THBD@p.D301N 1 0.411764706 ENSG00000178726 chr20:23048604-23048604;C/T missense_variant False THBD@p.D327N 1 0.304347826 ENSG00000178726 chr20:23048526-23048526;C/T missense_variant False THBD@p.D69N 1 0.7 ENSG00000178726 chr20:23049300-23049300;C/T missense_variant False THBD@p.R574K 1 0.357142857 ENSG00000178726 chr20:23047784-23047784;C/T missense_variant False THBS1@p.C894F 1 0.263157895 ENSG00000137801 chr15:39592716-39592716;G/T missense_variant False THBS1@p.E145Q 1 0.133333333 ENSG00000137801 chr15:39582558-39582558;G/C missense_variant False THBS1@p.E477K 1 0.288461538 ENSG00000137801 chr15:39588176-39588176;G/A missense_variant False THBS1@p.E609Q 1 0.415584416 ENSG00000137801 chr15:39589253-39589253;G/C missense_variant False THBS1@p.I688M 1 0.285714286 ENSG00000137801 chr15:39589942-39589942;C/G missense_variant False THBS1@p.N214D 1 0.270588235 ENSG00000137801 chr15:39583629-39583629;A/G missense_variant False THBS1@p.T393M 1 0.2125 ENSG00000137801 chr15:39587404-39587404;C/T missense_variant False THBS1@p.V987I 1 0.150943396 ENSG00000137801 chr15:39593191-39593191;G/A missense_variant False THBS2@p.A685V 1 0.248120301 ENSG00000186340 chr6:169232077-169232077;G/A missense_variant False THBS2@p.C415Afs*13 1 0.555555556 ENSG00000186340 chr6:169237683-169237683;G/- frameshift_variant False THBS2@p.C799W 1 0.072727273 ENSG00000186340 chr6:169228144-169228144;G/C missense_variant False THBS2@p.D131N 1 0.3 ENSG00000186340 chr6:169248635-169248635;C/T missense_variant False THAP1@p.P60L 1 0.264214047 ENSG00000131931 chr8:42839274-42839274;G/A missense_variant False THAP12@p.E693Q 1 0.615384615 ENSG00000137492 chr11:76351073-76351073;C/G missense_variant False THBS2@p.D742N 1 0.130434783 ENSG00000186340 chr6:169229607-169229607;C/T missense_variant False TGS1@p.H75L 1 0.359550562 ENSG00000137574 chr8:55785776-55785776;A/T missense_variant False TH@p.E436K 1 0.273809524 ENSG00000180176 chr11:2165353-2165353;C/T missense_variant False TH@p.E362Q 1 0.705882353 ENSG00000180176 chr11:2166536-2166536;C/G missense_variant False TGS1@p.R36Q 1 0.294117647 ENSG00000137574 chr8:55782753-55782753;G/A missense_variant False TGS1@p.R30K 1 0.078947368 ENSG00000137574 chr8:55773707-55773707;G/A missense_variant False TGS1@p.N632T 1 0.177419355 ENSG00000137574 chr8:55802502-55802502;A/C missense_variant False TGS1@p.N283K 1 0.342281879 ENSG00000137574 chr8:55786747-55786747;C/A missense_variant False TGS1@p.D739N 1 0.197452229 ENSG00000137574 chr8:55810952-55810952;G/A missense_variant False THAP12@p.E537Q 1 0.346153846 ENSG00000137492 chr11:76351541-76351541;C/G missense_variant False TGS1@p.A709V 1 0.412844037 ENSG00000137574 chr8:55805019-55805019;C/T missense_variant False TGS1@p.A543T 1 0.337837838 ENSG00000137574 chr8:55798998-55798998;G/A missense_variant False TGOLN2@p.S314C 1 0.432432432 ENSG00000152291 chr2:85326791-85326791;G/C missense_variant False TGOLN2@p.S182L 1 0.360501567 ENSG00000152291 chr2:85327187-85327187;G/A missense_variant False TGOLN2@p.L395V 1 0.057692308 ENSG00000152291 chr2:85326549-85326549;G/C missense_variant False TGOLN2@p.K103N 1 0.171521036 ENSG00000152291 chr2:85327423-85327423;C/G missense_variant False THADA@p.C228R 1 0.086021505 ENSG00000115970 chr2:43581780-43581780;A/G missense_variant False THADA@p.E1602Q 1 0.304347826 ENSG00000115970 chr2:43292848-43292848;C/G missense_variant False THADA@p.E715K 1 0.116666667 ENSG00000115970 chr2:43570432-43570432;C/T missense_variant False THADA@p.I1146L 1 0.489361702 ENSG00000115970 chr2:43508719-43508719;T/G missense_variant False THADA@p.P997S 1 0.333333333 ENSG00000115970 chr2:43549327-43549327;G/A missense_variant False THADA@p.Q248H 1 0.078125 ENSG00000115970 chr2:43578585-43578585;C/G missense_variant False THADA@p.Q996H 1 0.294117647 ENSG00000115970 chr2:43549328-43549328;C/G missense_variant False THADA@p.R1537W 1 0.161290323 ENSG00000115970 chr2:43293043-43293043;G/A missense_variant False THADA@p.S1418L 1 0.214285714 ENSG00000115970 chr2:43344212-43344212;G/A missense_variant False THADA@p.S910F 1 0.472222222 ENSG00000115970 chr2:43552285-43552285;G/A missense_variant False THAP10@p.D224N 1 0.154867257 ENSG00000129028 chr15:70882558-70882558;C/T missense_variant False THAP10@p.S51W 1 0.159090909 ENSG00000129028 chr15:70892121-70892121;G/C missense_variant False THAP11@p.D243H 1 0.057017544 ENSG00000168286 chr16:67843281-67843281;G/C missense_variant False THAP11@p.E263K 1 0.233082707 ENSG00000168286 chr16:67843341-67843341;G/A missense_variant False THAP11@p.R83C 1 0.363636364 ENSG00000168286 chr16:67842801-67842801;C/T missense_variant False THAP11@p.S245L 1 0.092337917 ENSG00000168286 chr16:67843288-67843288;C/T missense_variant False THAP12@p.E385K 1 0.397727273 ENSG00000137492 chr11:76351997-76351997;C/T missense_variant False THBS2@p.D61N 1 0.434782609 ENSG00000186340 chr6:169248845-169248845;C/T missense_variant False THBS2@p.D935N 1 0.333333333 ENSG00000186340 chr6:169223446-169223446;C/T missense_variant False THRAP3@p.R101Q 1 0.337078652 ENSG00000054118 chr1:36286532-36286532;G/A missense_variant False THOC2@p.S870C 1 0.545454545 ENSG00000125676 chrX:123627841-123627841;G/C missense_variant False THOC5@p.N418S 1 0.295833333 ENSG00000100296 chr22:29521022-29521022;T/C missense_variant False THOC5@p.M383V 1 0.392857143 ENSG00000100296 chr22:29525866-29525866;T/C missense_variant False THOC5@p.L550V 1 0.26519337 ENSG00000100296 chr22:29517062-29517062;G/C missense_variant False THOC5@p.E53K 1 0.125 ENSG00000100296 chr22:29544543-29544543;C/T missense_variant False THOC5@p.E136Q 1 0.275 ENSG00000100296 chr22:29542905-29542905;C/G missense_variant False THOC3@p.S20W 1 0.125 ENSG00000051596 chr5:175968150-175968150;G/C missense_variant False THOC2@p.R1409C 1 0.539936102 ENSG00000125676 chrX:123620957-123620957;G/A missense_variant False THNSL2@p.R465W 1 0.333333333 ENSG00000144115 chr2:88186061-88186061;C/T missense_variant False THOC2@p.P1446S 1 0.34 ENSG00000125676 chrX:123614165-123614165;G/A missense_variant False THOC2@p.L442V 1 0.161490683 ENSG00000125676 chrX:123665704-123665704;G/C missense_variant False THOC2@p.G1081V 1 0.16 ENSG00000125676 chrX:123624136-123624136;C/A missense_variant False THOC2@p.E1225K 1 0.204918033 ENSG00000125676 chrX:123623114-123623114;C/T missense_variant False THOC2@p.D610N 1 0.361445783 ENSG00000125676 chrX:123638946-123638946;C/T missense_variant False THOC1@p.R56K 1 0.25 ENSG00000079134 chr18:265325-265325;C/T missense_variant False THOC5@p.P397A 1 0.170212766 ENSG00000100296 chr22:29521086-29521086;G/C missense_variant False THOC5@p.R206Q 1 0.216216216 ENSG00000100296 chr22:29536721-29536721;C/T missense_variant False THOP1@p.D49N 1 0.224137931 ENSG00000172009 chr19:2790549-2790549;G/A missense_variant False THOP1@p.E474Q 1 0.148148148 ENSG00000172009 chr19:2808409-2808409;G/C missense_variant False THOP1@p.F84S 1 0.341772152 ENSG00000172009 chr19:2794785-2794785;T/C missense_variant False THOP1@p.M282I 1 0.518518519 ENSG00000172009 chr19:2807012-2807012;G/A missense_variant False THOP1@p.R95W 1 0.523809524 ENSG00000172009 chr19:2794817-2794817;C/T missense_variant False THPO@p.G396V 1 0.240409207 ENSG00000090534 chr3:184372808-184372808;C/A missense_variant False THPO@p.P165S 1 0.178947368 ENSG00000090534 chr3:184375956-184375956;G/A missense_variant False THPO@p.S180C 1 0.2 ENSG00000090534 chr3:184375910-184375910;G/C missense_variant False THPO@p.S423Y 1 0.212389381 ENSG00000090534 chr3:184372727-184372727;G/T missense_variant False THRA@p.D246H 1 0.315789474 ENSG00000126351 chr17:40088254-40088254;G/C missense_variant False THRA@p.V54F 1 0.106382979 ENSG00000126351 chr17:40077546-40077546;G/T missense_variant False THRAP3@p.E707K 1 0.651162791 ENSG00000054118 chr1:36296586-36296586;G/A missense_variant False THRAP3@p.G229R 1 0.111111111 ENSG00000054118 chr1:36286915-36286915;G/C missense_variant False THRAP3@p.K396N 1 0.281553398 ENSG00000054118 chr1:36289207-36289207;A/C missense_variant False THRAP3@p.P822Sfs*3 1 0.367346939 ENSG00000054118 chr1:36301040-36301041;-/T frameshift_variant False THOC1@p.R318C 1 0.615384615 ENSG00000079134 chr18:226868-226868;G/A missense_variant False THNSL2@p.C119F 1 0.445652174 ENSG00000144115 chr2:88174771-88174771;G/T missense_variant False THBS2@p.G1147V 1 0.229323308 ENSG00000186340 chr6:169220269-169220269;C/A missense_variant False THBS4@p.G797D 1 0.319444444 ENSG00000113296 chr5:80079137-80079137;G/A missense_variant False THEM5@p.E20K 1 0.487684729 ENSG00000196407 chr1:151853508-151853508;C/T missense_variant False THEG@p.S359C 1 0.316831683 ENSG00000105549 chr19:362264-362264;G/C missense_variant False THEG@p.L271S 1 0.112449799 ENSG00000105549 chr19:367166-367166;A/G missense_variant False THEG@p.G149D 1 0.222222222 ENSG00000105549 chr19:373997-373997;C/T missense_variant False THBS4@p.R252Q 1 0.360406091 ENSG00000113296 chr5:80059462-80059462;G/A missense_variant False THBS4@p.I526V 1 0.285714286 ENSG00000113296 chr5:80071036-80071036;A/G missense_variant False THBS4@p.G456A 1 0.150943396 ENSG00000113296 chr5:80070325-80070325;G/C missense_variant False THNSL1@p.T541S 1 0.37804878 ENSG00000185875 chr10:25024845-25024845;C/G missense_variant False THBS3@p.R102W 1 0.563636364 ENSG00000169231 chr1:155205299-155205299;G/A missense_variant False THBS3@p.F522L 1 0.119565217 ENSG00000169231 chr1:155200593-155200593;G/T missense_variant False THBS2@p.T252N 1 0.489795918 ENSG00000186340 chr6:169241898-169241898;G/T missense_variant False THBS2@p.L723V 1 0.19047619 ENSG00000186340 chr6:169229664-169229664;G/C missense_variant False THBS2@p.H670Y 1 0.151515152 ENSG00000186340 chr6:169232123-169232123;G/A missense_variant False THBS2@p.G832V 1 0.203703704 ENSG00000186340 chr6:169226223-169226223;C/A missense_variant False THEM5@p.K110R 1 0.289719626 ENSG00000196407 chr1:151851188-151851188;T/C missense_variant False THEM5@p.M165I 1 0.352272727 ENSG00000196407 chr1:151848262-151848262;C/A missense_variant False THEMIS2@p.E633K 1 0.314814815 ENSG00000130775 chr1:27885887-27885887;G/A missense_variant False THEMIS2@p.K607N 1 0.88 ENSG00000130775 chr1:27885396-27885396;G/T missense_variant False THEMIS@p.I136M 1 0.369565217 ENSG00000172673 chr6:127829777-127829777;G/C missense_variant False THEMIS@p.K208T 1 0.208633094 ENSG00000172673 chr6:127829562-127829562;T/G missense_variant False THEMIS@p.L509F 1 0.133333333 ENSG00000172673 chr6:127813114-127813114;C/G missense_variant False THEMIS@p.Q612H 1 0.594594595 ENSG00000172673 chr6:127719746-127719746;C/G missense_variant False THEMIS@p.S623R 1 0.479591837 ENSG00000172673 chr6:127719713-127719713;G/T missense_variant False THEMIS@p.V435I 1 0.2875 ENSG00000172673 chr6:127813338-127813338;C/T missense_variant False THG1L@p.E146K 1 0.213114754 ENSG00000113272 chr5:157734643-157734643;G/A missense_variant False THG1L@p.E292Q 1 0.409722222 ENSG00000113272 chr5:157739459-157739459;G/C missense_variant False THG1L@p.E67K 1 0.075471698 ENSG00000113272 chr5:157732875-157732875;G/A missense_variant False THG1L@p.S12C 1 0.3125 ENSG00000113272 chr5:157731475-157731475;C/G missense_variant False THNSL1@p.K717N 1 0.181818182 ENSG00000185875 chr10:25025374-25025374;G/C missense_variant False THNSL1@p.R164C 1 0.410714286 ENSG00000185875 chr10:25023713-25023713;C/T missense_variant False THNSL1@p.S354F 1 0.09375 ENSG00000185875 chr10:25024284-25024284;C/T missense_variant False TET1@p.S1284Y 1 0.395348837 ENSG00000138336 chr10:68646580-68646580;C/A missense_variant False TET1@p.S1193W 1 0.188235294 ENSG00000138336 chr10:68646307-68646307;C/G missense_variant False TET1@p.R1780Q 1 0.161290323 ENSG00000138336 chr10:68686642-68686642;G/A missense_variant False TCP11L1@p.E273Q 1 0.375 ENSG00000176148 chr11:33061571-33061571;G/C missense_variant False TCP11L2@p.L278V 1 0.323529412 ENSG00000166046 chr12:106335698-106335698;C/G missense_variant False TCP11L2@p.E12Q 1 0.138888889 ENSG00000166046 chr12:106311109-106311109;G/C missense_variant False TCP11L2@p.A372G 1 0.213114754 ENSG00000166046 chr12:106336186-106336186;C/G missense_variant False TCP11L1@p.T150A 1 0.139534884 ENSG00000176148 chr11:33057949-33057949;A/G missense_variant False TCP11L1@p.S414F 1 0.448275862 ENSG00000176148 chr11:33068773-33068773;C/T missense_variant False TCP11L1@p.P210S 1 0.176470588 ENSG00000176148 chr11:33058129-33058129;C/T missense_variant False TCP11L1@p.E269Q 1 0.349206349 ENSG00000176148 chr11:33061559-33061559;G/C missense_variant False TCP11L2@p.P461S 1 0.140625 ENSG00000166046 chr12:106346351-106346351;C/T missense_variant False TCP11L1@p.D123Y 1 0.27480916 ENSG00000176148 chr11:33057185-33057185;G/T missense_variant False TCP10L@p.E7Q 1 0.283018868 ENSG00000242220 chr21:32584286-32584286;C/G missense_variant False TCOF1@p.R288Q 1 0.636363636 ENSG00000070814 chr5:150372229-150372229;G/A missense_variant False TCOF1@p.M627I 1 0.321428571 ENSG00000070814 chr5:150375897-150375897;G/C missense_variant False TCOF1@p.L1235V 1 0.2 ENSG00000070814 chr5:150393474-150393474;C/G missense_variant False TCOF1@p.K646N 1 0.130136986 ENSG00000070814 chr5:150376126-150376126;G/C missense_variant False TCP11L2@p.L486F 1 0.181818182 ENSG00000166046 chr12:106346426-106346426;C/T missense_variant False TCP11L2@p.Q456E 1 0.333333333 ENSG00000166046 chr12:106346336-106346336;C/G missense_variant False TDRD9@p.M1016I 1 0.179104478 ENSG00000156414 chr14:104026705-104026705;G/A missense_variant False TCTE3@p.E128Q 1 0.101449275 None chr6:169743184-169743184;C/G missense_variant False TCTN2@p.G208A 1 0.33125 ENSG00000168778 chr12:123686894-123686894;G/C missense_variant False TCTN2@p.G101V 1 0.232142857 ENSG00000168778 chr12:123673649-123673649;G/T missense_variant False TCTN1@p.I284M 1 0.2 ENSG00000204852 chr12:110640391-110640391;C/G missense_variant False TCTEX1D2@p.E17K 1 0.235294118 None chr3:196318104-196318104;C/T missense_variant False TCTEX1D1@p.T44S 1 0.290697674 None chr1:66770397-66770397;A/T missense_variant False TCTE3@p.Q18H 1 0.341772152 None chr6:169751405-169751405;C/A missense_variant False TCTE1@p.T6M 1 0.216216216 ENSG00000146221 chr6:44287809-44287809;G/A missense_variant False TCP11L2@p.S291C 1 0.25 ENSG00000166046 chr12:106335738-106335738;C/G missense_variant False TCTE1@p.Q99H 1 0.220338983 ENSG00000146221 chr6:44286513-44286513;C/G missense_variant False TCTA@p.N62_T63delinsK 1 0.240384615 ENSG00000145022 chr3:49412612-49412614;TAC/- inframe_deletion False TCTA@p.D82N 1 0.228070175 ENSG00000145022 chr3:49413085-49413085;G/A missense_variant False TCP1@p.M225I 1 0.393939394 ENSG00000120438 chr6:159784063-159784063;C/A missense_variant False TCP1@p.K368E 1 0.180327869 ENSG00000120438 chr6:159780083-159780083;T/C missense_variant False TCP1@p.G37V 1 0.157894737 ENSG00000120438 chr6:159788098-159788098;C/A missense_variant False TCOF1@p.E879K 1 0.2 ENSG00000070814 chr5:150379385-150379385;G/A missense_variant False TCOF1@p.E704Rfs*7 1 0.182926829 ENSG00000070814 chr5:150376298-150376298;G/- frameshift_variant False TCOF1@p.E172K 1 0.278481013 ENSG00000070814 chr5:150368851-150368851;G/A missense_variant False TCHHL1@p.G214E 1 0.302631579 ENSG00000182898 chr1:152087041-152087041;C/T missense_variant False TCHP@p.A135S 1 0.271428571 ENSG00000139437 chr12:109904740-109904740;G/T missense_variant False TCHHL1@p.Y18C 1 0.379310345 ENSG00000182898 chr1:152088091-152088091;T/C missense_variant False TCHHL1@p.S483N 1 0.294642857 ENSG00000182898 chr1:152086234-152086234;C/T missense_variant False TCHHL1@p.S173C 1 0.054545455 ENSG00000182898 chr1:152087164-152087164;G/C missense_variant False TCHHL1@p.R515M 1 0.121212121 ENSG00000182898 chr1:152086138-152086138;C/A missense_variant False TCHHL1@p.M387I 1 0.101190476 ENSG00000182898 chr1:152086521-152086521;C/G missense_variant False TCHHL1@p.E556Q 1 0.237179487 ENSG00000182898 chr1:152086016-152086016;C/G missense_variant False TCN2@p.R224T 1 0.303278689 ENSG00000185339 chr22:30615391-30615391;G/C missense_variant False TCHHL1@p.E497Q 1 0.154185022 ENSG00000182898 chr1:152086193-152086193;C/G missense_variant False TCHHL1@p.E398K 1 0.067669173 ENSG00000182898 chr1:152086490-152086490;C/T missense_variant False TCHH@p.R211Q 1 0.168067227 ENSG00000159450 chr1:152112585-152112585;C/T missense_variant False TCHH@p.R1747T 1 0.152542373 ENSG00000159450 chr1:152107977-152107977;C/G missense_variant False TCHH@p.R1745H 1 0.103174603 ENSG00000159450 chr1:152107983-152107983;C/T missense_variant False TCHH@p.R1707K 1 0.342592593 ENSG00000159450 chr1:152108097-152108097;C/T missense_variant False TCHP@p.E171Q 1 0.111111111 ENSG00000139437 chr12:109906626-109906626;G/C missense_variant False TCHP@p.K76N 1 0.5 ENSG00000139437 chr12:109903976-109903976;G/C missense_variant False TCHP@p.Q169K 1 0.206896552 ENSG00000139437 chr12:109906620-109906620;C/A missense_variant False TCHP@p.R195Q 1 0.2 ENSG00000139437 chr12:109907584-109907584;G/A missense_variant False TCHP@p.Y187F 1 0.25 ENSG00000139437 chr12:109907560-109907560;A/T missense_variant False TCIM@p.K104T 1 0.597222222 ENSG00000176907 chr8:40153843-40153843;A/C missense_variant False TCIRG1@p.F441Sfs*87 1 0.314049587 ENSG00000110719 chr11:68047661-68047661;C/- frameshift_variant False TCIRG1@p.K534N 1 0.333333333 ENSG00000110719 chr11:68048926-68048926;G/C missense_variant False TCIRG1@p.L527F 1 0.376146789 ENSG00000110719 chr11:68048905-68048905;G/C missense_variant False TCIRG1@p.V326E 1 0.5 ENSG00000110719 chr11:68044301-68044301;T/A missense_variant False TCL1B@p.E27K 1 0.458333333 ENSG00000213231 chr14:95686546-95686546;G/A missense_variant False TCN1@p.E427G 1 0.178217822 ENSG00000134827 chr11:59852997-59852997;T/C missense_variant False TCN1@p.E94Q 1 0.365384615 ENSG00000134827 chr11:59862702-59862702;C/G missense_variant False TCN1@p.N397S 1 0.36 ENSG00000134827 chr11:59853253-59853253;T/C missense_variant False TCN2@p.G352E 1 0.293577982 ENSG00000185339 chr22:30617444-30617444;G/A missense_variant False TCN2@p.L162V 1 0.526315789 ENSG00000185339 chr22:30614405-30614405;C/G missense_variant False TCN2@p.L4I 1 0.255813953 ENSG00000185339 chr22:30607341-30607341;C/A missense_variant False TCTN2@p.G428D 1 0.322580645 ENSG00000168778 chr12:123695268-123695268;G/A missense_variant False TCTN2@p.I334M 1 0.23255814 ENSG00000168778 chr12:123690643-123690643;C/G missense_variant False TCTN2@p.L235V 1 0.11747851 ENSG00000168778 chr12:123686974-123686974;C/G missense_variant False TDRD5@p.T230K 1 0.068181818 ENSG00000162782 chr1:179595676-179595676;C/A missense_variant False TDRD6@p.E1806Q 1 0.247706422 ENSG00000180113 chr6:46693544-46693544;G/C missense_variant False TDRD6@p.E1693D 1 0.08988764 ENSG00000180113 chr6:46693207-46693207;G/C missense_variant False TDRD6@p.D804N 1 0.236111111 ENSG00000180113 chr6:46690538-46690538;G/A missense_variant False TDRD6@p.D186H 1 0.300970874 ENSG00000180113 chr6:46688684-46688684;G/C missense_variant False TDRD6@p.D1652H 1 0.1875 ENSG00000180113 chr6:46693082-46693082;G/C missense_variant False TDRD5@p.W792R 1 0.176829268 ENSG00000162782 chr1:179663378-179663378;T/C missense_variant False TDRD5@p.S317C 1 0.057142857 ENSG00000162782 chr1:179621069-179621069;C/G missense_variant False TDRD3@p.L57V 1 0.396039604 ENSG00000083544 chr13:60467332-60467332;C/G missense_variant False TDRD5@p.R925H 1 0.461538462 ENSG00000162782 chr1:179690771-179690771;G/A missense_variant False TDRD5@p.R718C 1 0.333333333 ENSG00000162782 chr1:179652189-179652189;C/T missense_variant False TDRD5@p.E865Q 1 0.110619469 ENSG00000162782 chr1:179669299-179669299;G/C missense_variant False TDRD3@p.S303L 1 0.101010101 ENSG00000083544 chr13:60528412-60528412;C/T missense_variant False TDRD3@p.R338T 1 0.4 ENSG00000083544 chr13:60528517-60528517;G/C missense_variant False TDRD3@p.P393L 1 0.276595745 ENSG00000083544 chr13:60528682-60528682;C/T missense_variant False TDRD6@p.E871K 1 0.153846154 ENSG00000180113 chr6:46690739-46690739;G/A missense_variant False TDRD6@p.L1869V 1 0.153846154 ENSG00000180113 chr6:46693733-46693733;C/G missense_variant False TDRD6@p.L2059F 1 0.17877095 ENSG00000180113 chr6:46698003-46698003;G/C missense_variant False TDRD6@p.M1358I 1 0.118421053 ENSG00000180113 chr6:46692202-46692202;G/C missense_variant False TDRD6@p.P1628A 1 0.239130435 ENSG00000180113 chr6:46693010-46693010;C/G missense_variant False TDRD6@p.Q1648E 1 0.120967742 ENSG00000180113 chr6:46693070-46693070;C/G missense_variant False TDRD6@p.R827Q 1 0.120879121 ENSG00000180113 chr6:46690608-46690608;G/A missense_variant False TDRD6@p.S1494T 1 0.135802469 ENSG00000180113 chr6:46692609-46692609;G/C missense_variant False TDRD6@p.V250M 1 0.487804878 ENSG00000180113 chr6:46688876-46688876;G/A missense_variant False TDRD7@p.E431K 1 0.375 ENSG00000196116 chr9:97460613-97460613;G/A missense_variant False TDRD7@p.E439A 1 0.096774194 ENSG00000196116 chr9:97460638-97460638;A/C missense_variant False TDRD7@p.R1013Q 1 0.487179487 ENSG00000196116 chr9:97487294-97487294;G/A missense_variant False TDRD7@p.R812T 1 0.444444444 ENSG00000196116 chr9:97482871-97482871;G/C missense_variant False TDRD7@p.S229A 1 0.446428571 ENSG00000196116 chr9:97441705-97441705;T/G missense_variant False TDRD7@p.S440G 1 0.098360656 ENSG00000196116 chr9:97460640-97460640;A/G missense_variant False TDRD9@p.E590D 1 0.64 ENSG00000156414 chr14:104006445-104006445;A/C missense_variant False TDRD9@p.L465F 1 0.270114943 ENSG00000156414 chr14:103998640-103998640;G/C missense_variant False TDRD3@p.M217V 1 0.079847909 ENSG00000083544 chr13:60509832-60509832;A/G missense_variant False TDRD3@p.D451H 1 0.166666667 ENSG00000083544 chr13:60528855-60528855;G/C missense_variant False TCTN2@p.L9V 1 0.12 ENSG00000168778 chr12:123671265-123671265;C/G missense_variant False TDGF1@p.D121H 1 0.1875 ENSG00000241186 chr3:46579973-46579973;G/C missense_variant False TDO2@p.R181L 1 0.104651163 ENSG00000151790 chr4:155910135-155910135;G/T missense_variant False TDO2@p.M294L 1 0.125 ENSG00000151790 chr4:155915896-155915896;A/C missense_variant False TDGF1@p.S169C 1 0.298245614 ENSG00000241186 chr3:46581189-46581189;C/G missense_variant False TDGF1@p.K21Q 1 0.351648352 ENSG00000241186 chr3:46579120-46579120;A/C missense_variant False TDGF1@p.G148S 1 0.414285714 ENSG00000241186 chr3:46580054-46580054;G/A missense_variant False TDGF1@p.D48N 1 0.097560976 ENSG00000241186 chr3:46579285-46579285;G/A missense_variant False TDG@p.S376C 1 0.158536585 ENSG00000139372 chr12:103986983-103986983;A/T missense_variant False TDRD1@p.V281M 1 0.414893617 ENSG00000095627 chr10:114203427-114203427;G/A missense_variant False TDG@p.Q298E 1 0.112359551 ENSG00000139372 chr12:103984848-103984848;C/G missense_variant False TDG@p.K258N 1 0.152542373 ENSG00000139372 chr12:103983371-103983371;G/C missense_variant False TDG@p.E37A 1 0.349206349 ENSG00000139372 chr12:103977004-103977004;A/C missense_variant False TCTN3@p.D291H 1 0.073529412 ENSG00000119977 chr10:95686512-95686512;C/G missense_variant False TCTN2@p.S134L 1 0.186956522 ENSG00000168778 chr12:123673748-123673748;C/T missense_variant False TCTN2@p.Q166E 1 0.068181818 ENSG00000168778 chr12:123679221-123679221;C/G missense_variant False TDP1@p.D6N 1 0.225806452 ENSG00000042088 chr14:89963130-89963130;G/A missense_variant False TDP1@p.E415K 1 0.344827586 ENSG00000042088 chr14:89989016-89989016;G/A missense_variant False TDP1@p.E415Q 1 0.447368421 ENSG00000042088 chr14:89989016-89989016;G/C missense_variant False TDP1@p.I110M 1 0.310344828 ENSG00000042088 chr14:89963444-89963444;C/G missense_variant False TDP1@p.R126I 1 0.344827586 ENSG00000042088 chr14:89963491-89963491;G/T missense_variant False TDP2@p.A323S 1 0.128078818 ENSG00000111802 chr6:24650910-24650910;C/A missense_variant False TDP2@p.D39N 1 0.226744186 ENSG00000111802 chr6:24666748-24666748;C/T missense_variant False TDP2@p.H351Y 1 0.367647059 ENSG00000111802 chr6:24650826-24650826;G/A missense_variant False TDP2@p.S303F 1 0.224489796 ENSG00000111802 chr6:24650969-24650969;G/A missense_variant False TDRD10@p.L188F 1 0.325842697 ENSG00000163239 chr1:154544021-154544021;C/T missense_variant False TDRD1@p.E1031K 1 0.285714286 ENSG00000095627 chr10:114226132-114226132;G/A missense_variant False TDRD1@p.E217K 1 0.289473684 ENSG00000095627 chr10:114202251-114202251;G/A missense_variant False TDRD1@p.E242K 1 0.34 ENSG00000095627 chr10:114203099-114203099;G/A missense_variant False TDRD1@p.E948K 1 0.146666667 ENSG00000095627 chr10:114221428-114221428;G/A missense_variant False TDRD1@p.M251I 1 0.239130435 ENSG00000095627 chr10:114203128-114203128;G/A missense_variant False TDRD1@p.R860T 1 0.285714286 ENSG00000095627 chr10:114220652-114220652;G/C missense_variant False TDRD1@p.T269M 1 0.111111111 ENSG00000095627 chr10:114203392-114203392;C/T missense_variant False TCHH@p.R1485T 1 0.230769231 ENSG00000159450 chr1:152108763-152108763;C/G missense_variant False TCHH@p.Q424R 1 0.12987013 ENSG00000159450 chr1:152111946-152111946;T/C missense_variant False TCHH@p.Q1870H 1 0.290322581 ENSG00000159450 chr1:152107607-152107607;C/G missense_variant False TCEA3@p.C180Y 1 0.085106383 ENSG00000204219 chr1:23397860-23397860;C/T missense_variant False TCEAL2@p.K185E 1 0.251231527 ENSG00000184905 chrX:102127383-102127383;A/G missense_variant False TCEAL1@p.E56K 1 0.255813953 ENSG00000172465 chrX:103630082-103630082;G/A missense_variant False TCEA3@p.K315N 1 0.38 ENSG00000204219 chr1:23387294-23387294;C/A missense_variant False TCEA3@p.E330K 1 0.169014085 ENSG00000204219 chr1:23384396-23384396;C/T missense_variant False TCEA3@p.E279K 1 0.6 ENSG00000204219 chr1:23387404-23387404;C/T missense_variant False TCEA3@p.D329N 1 0.133333333 ENSG00000204219 chr1:23384399-23384399;C/T missense_variant False TCEA2@p.S223L 1 0.115942029 ENSG00000171703 chr20:64070410-64070410;C/T missense_variant False TC2N@p.S83P 1 0.416666667 ENSG00000165929 chr14:91812366-91812366;A/G missense_variant False TCEA2@p.R90W 1 0.191176471 ENSG00000171703 chr20:64068073-64068073;C/T missense_variant False TCEA2@p.N201Y 1 0.295652174 ENSG00000171703 chr20:64070343-64070343;A/T missense_variant False TCEA2@p.F128L 1 0.363636364 ENSG00000171703 chr20:64069415-64069415;T/G missense_variant False TCAP@p.S159F 1 0.45014245 ENSG00000173991 chr17:39666081-39666081;C/T missense_variant False TCAIM@p.S96C 1 0.166666667 ENSG00000179152 chr3:44361486-44361486;C/G missense_variant False TCAF1@p.A24V 1 0.057971014 ENSG00000198420 chr7:143876538-143876538;G/A missense_variant False TCEAL8@p.L82P 1 0.75 ENSG00000180964 chrX:103253735-103253735;A/G missense_variant False TCEAL9@p.E38K 1 0.611111111 ENSG00000185222 chrX:103357796-103357796;G/A missense_variant False TCEANC2@p.E57D 1 0.44 ENSG00000116205 chr1:54068824-54068824;G/T missense_variant False TCEANC2@p.F4L 1 0.155555556 ENSG00000116205 chr1:54054434-54054434;C/A missense_variant False TCEANC@p.L269F 1 0.388888889 ENSG00000176896 chrX:13663315-13663315;G/C missense_variant False TCERG1@p.E1005K 1 0.392857143 ENSG00000113649 chr5:146509163-146509163;G/A missense_variant False TCERG1@p.E892K 1 0.652892562 ENSG00000113649 chr5:146503950-146503950;G/A missense_variant False TCERG1@p.G90R 1 0.475409836 ENSG00000113649 chr5:146455264-146455264;G/C missense_variant False TCERG1L@p.E180K 1 0.083333333 ENSG00000176769 chr10:131308343-131308343;C/T missense_variant False TCF12@p.D137H 1 0.12195122 ENSG00000140262 chr15:57192176-57192176;G/C missense_variant False TCF12@p.E390K 1 0.242424242 ENSG00000140262 chr15:57251403-57251403;G/A missense_variant False TCF12@p.G452A 1 0.263888889 ENSG00000140262 chr15:57253428-57253428;G/C missense_variant False TCF12@p.L343Ffs*8 1 0.126582278 ENSG00000140262 chr15:57234097-57234098;-/T frameshift_variant False TCF12@p.Q622E 1 0.192982456 ENSG00000140262 chr15:57273220-57273220;C/G missense_variant False TCF12@p.R406T 1 0.272727273 ENSG00000140262 chr15:57253290-57253290;G/C missense_variant False TCF12@p.S658W 1 0.162962963 ENSG00000140262 chr15:57282511-57282511;C/G missense_variant False TCF19@p.D236N 1 0.24137931 ENSG00000137310 chr6:31161914-31161914;G/A missense_variant False TC2N@p.T292M 1 0.2 ENSG00000165929 chr14:91792539-91792539;G/A missense_variant False TC2N@p.P145S 1 0.272727273 ENSG00000165929 chr14:91802290-91802290;G/A missense_variant False TCF20@p.E1448Q 1 0.236607143 ENSG00000100207 chr22:42210964-42210964;C/G missense_variant False TBX3@p.R256K 1 0.408 ENSG00000135111 chr12:114679602-114679602;C/T missense_variant False TBX4@p.H365Y 1 0.256410256 ENSG00000121075 chr17:61482971-61482971;C/T missense_variant False TBX4@p.E82Q 1 0.357142857 ENSG00000121075 chr17:61457594-61457594;G/C missense_variant False TBX4@p.E73D 1 0.105882353 ENSG00000121075 chr17:61457569-61457569;G/C missense_variant False TBX3@p.S432L 1 0.195652174 ENSG00000135111 chr12:114674640-114674640;G/A missense_variant False TBX3@p.R447G 1 0.307692308 ENSG00000135111 chr12:114674596-114674596;G/C missense_variant False TBX3@p.R269Q 1 0.237288136 ENSG00000135111 chr12:114679563-114679563;C/T missense_variant False TBX3@p.M5I 1 0.446601942 ENSG00000135111 chr12:114683186-114683186;C/T missense_variant False TBXT@p.S398F 1 0.4375 ENSG00000164458 chr6:166158430-166158430;G/A missense_variant False TBX3@p.F346L 1 0.216216216 ENSG00000135111 chr12:114676374-114676374;G/C missense_variant False TBX3@p.D295H 1 0.113924051 ENSG00000135111 chr12:114677638-114677638;C/G missense_variant False TBX3@p.D159H 1 0.248275862 ENSG00000135111 chr12:114681061-114681061;C/G missense_variant False TBX3@p.A109V 1 0.390804598 ENSG00000135111 chr12:114682875-114682875;G/A missense_variant False TBX2@p.Q267H 1 0.29375 ENSG00000121068 chr17:61403198-61403198;G/C missense_variant False TBX2@p.L606V 1 0.28125 ENSG00000121068 chr17:61408183-61408183;C/G missense_variant False TBX4@p.S273C 1 0.257575758 ENSG00000121075 chr17:61480115-61480115;A/T missense_variant False TBX4@p.S478F 1 0.092592593 ENSG00000121075 chr17:61483311-61483311;C/T missense_variant False TBX5@p.A143Pfs*7 1 0.470588235 ENSG00000089225 chr12:114398657-114398657;G/- frameshift_variant False TBX5@p.E69K 1 0.306122449 ENSG00000089225 chr12:114401863-114401863;C/T missense_variant False TBX5@p.P142R 1 0.5625 ENSG00000089225 chr12:114398658-114398658;G/C missense_variant False TBX5@p.R369K 1 0.264705882 ENSG00000089225 chr12:114355983-114355983;C/T missense_variant False TBX5@p.S154F 1 0.333333333 ENSG00000089225 chr12:114398622-114398622;G/A missense_variant False TBX5@p.S490C 1 0.303797468 ENSG00000089225 chr12:114355620-114355620;G/C missense_variant False TBX6@p.E134K 1 0.191176471 ENSG00000149922 chr16:30089164-30089164;C/T missense_variant False TBX6@p.L412F 1 0.533333333 ENSG00000149922 chr16:30086302-30086302;G/A missense_variant False TBXAS1@p.A415G 1 0.121495327 ENSG00000059377 chr7:140015740-140015740;C/G missense_variant False TBXAS1@p.E206K 1 0.281767956 ENSG00000059377 chr7:139955535-139955535;G/A missense_variant False TBXAS1@p.F383L 1 0.316 ENSG00000059377 chr7:140007105-140007105;C/G missense_variant False TBXT@p.E61Q 1 0.106557377 ENSG00000164458 chr6:166167411-166167411;C/G missense_variant False TBXT@p.H388Y 1 0.575757576 ENSG00000164458 chr6:166158461-166158461;G/A missense_variant False TBXT@p.S379C 1 0.213333333 ENSG00000164458 chr6:166158487-166158487;G/C missense_variant False TBXT@p.S394F 1 0.561403509 ENSG00000164458 chr6:166158442-166158442;G/A missense_variant False TCF19@p.L96M 1 0.4375 ENSG00000137310 chr6:31161494-31161494;T/A missense_variant False TCF20@p.H431D 1 0.179487179 ENSG00000100207 chr22:42214015-42214015;G/C missense_variant False TCHH@p.Q1506H 1 0.119266055 ENSG00000159450 chr1:152108699-152108699;C/A missense_variant False TCHH@p.E1054K 1 0.1953125 ENSG00000159450 chr1:152110057-152110057;C/T missense_variant False TCHH@p.E1722D 1 0.171052632 ENSG00000159450 chr1:152108051-152108051;C/G missense_variant False TCHH@p.E1720Q 1 0.308411215 ENSG00000159450 chr1:152108059-152108059;C/G missense_variant False TCHH@p.E1678A 1 0.093596059 ENSG00000159450 chr1:152108184-152108184;T/G missense_variant False TCHH@p.E152K 1 0.47826087 ENSG00000159450 chr1:152112763-152112763;C/T missense_variant False TCHH@p.E1365K 1 0.079812207 ENSG00000159450 chr1:152109124-152109124;C/T missense_variant False TCHH@p.E1114Q 1 0.153005464 ENSG00000159450 chr1:152109877-152109877;C/G missense_variant False TCHH@p.E1017D 1 0.13963964 ENSG00000159450 chr1:152110166-152110166;C/G missense_variant False TCF7L2@p.P461R 1 0.322580645 ENSG00000148737 chr10:113159932-113159932;C/G missense_variant False TCHH@p.D1413N 1 0.137566138 ENSG00000159450 chr1:152108980-152108980;C/T missense_variant False TCHH@p.D104N 1 0.110091743 ENSG00000159450 chr1:152112907-152112907;C/T missense_variant False TCHH@p.A1847T 1 0.083333333 ENSG00000159450 chr1:152107678-152107678;C/T missense_variant False TCFL5@p.Q400E 1 0.164772727 ENSG00000101190 chr20:62857435-62857435;G/C missense_variant False TCFL5@p.I450M 1 0.379310345 ENSG00000101190 chr20:62854046-62854046;G/C missense_variant False TCFL5@p.E403D 1 0.489795918 ENSG00000101190 chr20:62857424-62857424;C/G missense_variant False TCHH@p.E1751Q 1 0.244680851 ENSG00000159450 chr1:152107966-152107966;C/G missense_variant False TCHH@p.E1792Q 1 0.247619048 ENSG00000159450 chr1:152107843-152107843;C/G missense_variant False TCHH@p.E1860Q 1 0.333333333 ENSG00000159450 chr1:152107639-152107639;C/G missense_variant False TCHH@p.E1868K 1 0.275510204 ENSG00000159450 chr1:152107615-152107615;C/T missense_variant False TCHH@p.E1869Q 1 0.274193548 ENSG00000159450 chr1:152107612-152107612;C/G missense_variant False TCHH@p.E232K 1 0.049019608 ENSG00000159450 chr1:152112523-152112523;C/T missense_variant False TCHH@p.E245K 1 0.331288344 ENSG00000159450 chr1:152112484-152112484;C/T missense_variant False TCHH@p.E257K 1 0.15 ENSG00000159450 chr1:152112448-152112448;C/T missense_variant False TCHH@p.E416K 1 0.094339623 ENSG00000159450 chr1:152111971-152111971;C/T missense_variant False TCHH@p.E441D 1 0.4 ENSG00000159450 chr1:152111894-152111894;C/G missense_variant False TCHH@p.E641G 1 0.216216216 ENSG00000159450 chr1:152111295-152111295;T/C missense_variant False TCHH@p.E656K 1 0.608478803 ENSG00000159450 chr1:152111251-152111251;C/T missense_variant False TCHH@p.E837K 1 0.203883495 ENSG00000159450 chr1:152110708-152110708;C/T missense_variant False TCHH@p.E971G 1 0.27027027 ENSG00000159450 chr1:152110305-152110305;T/C missense_variant False TCHH@p.K1130N 1 0.365714286 ENSG00000159450 chr1:152109827-152109827;C/G missense_variant False TCHH@p.L1583I 1 0.528409091 ENSG00000159450 chr1:152108470-152108470;A/T missense_variant False TCHH@p.Q1381H 1 0.070422535 ENSG00000159450 chr1:152109074-152109074;C/G missense_variant False TCFL5@p.E380K 1 0.144 ENSG00000101190 chr20:62857495-62857495;C/T missense_variant False TCF7@p.L162F 1 0.140625 ENSG00000081059 chr5:134138101-134138101;C/T missense_variant False TCF20@p.P560L 1 0.174757282 ENSG00000100207 chr22:42213627-42213627;G/A missense_variant False TCF20@p.S527L 1 0.266666667 ENSG00000100207 chr22:42213726-42213726;G/A missense_variant False TCF25@p.E155Q 1 0.428571429 ENSG00000141002 chr16:89885881-89885881;G/C missense_variant False TCF25@p.D294N 1 0.075471698 ENSG00000141002 chr16:89895089-89895089;G/A missense_variant False TCF23@p.G133S 1 0.482926829 ENSG00000163792 chr2:27150297-27150297;G/A missense_variant False TCF23@p.A102G 1 0.068493151 ENSG00000163792 chr2:27150205-27150205;C/G missense_variant False TCF21@p.E39K 1 0.753846154 ENSG00000118526 chr6:133889512-133889512;G/A missense_variant False TCF21@p.E161K 1 0.15625 ENSG00000118526 chr6:133891743-133891743;G/A missense_variant False TCF20@p.S476Y 1 0.135021097 ENSG00000100207 chr22:42213879-42213879;G/T missense_variant False TCF4@p.P348S 1 0.429824561 ENSG00000196628 chr18:55259976-55259976;G/A missense_variant False TCF20@p.S356P 1 0.214285714 ENSG00000100207 chr22:42214240-42214240;A/G missense_variant False TCF20@p.S1246C 1 0.255319149 ENSG00000100207 chr22:42211569-42211569;G/C missense_variant False TCF20@p.S1181F 1 0.261904762 ENSG00000100207 chr22:42211764-42211764;G/A missense_variant False TCF20@p.R5W 1 0.638888889 ENSG00000100207 chr22:42215293-42215293;G/A missense_variant False TCF20@p.Q271E 1 0.109090909 ENSG00000100207 chr22:42214495-42214495;G/C missense_variant False TCF20@p.Q1082K 1 0.086956522 ENSG00000100207 chr22:42212062-42212062;G/T missense_variant False TCF25@p.E525K 1 0.214285714 ENSG00000141002 chr16:89905041-89905041;G/A missense_variant False TCF25@p.G49R 1 0.625 ENSG00000141002 chr16:89873812-89873812;G/A missense_variant False TCF25@p.H120N 1 0.206896552 ENSG00000141002 chr16:89884585-89884585;C/A missense_variant False TCF25@p.I604M 1 0.183206107 ENSG00000141002 chr16:89910603-89910603;C/G missense_variant False TCF25@p.Q280H 1 0.37254902 ENSG00000141002 chr16:89895049-89895049;G/C missense_variant False TCF25@p.Q440H 1 0.385964912 ENSG00000141002 chr16:89900733-89900733;G/C missense_variant False TCF25@p.S421C 1 0.366666667 ENSG00000141002 chr16:89900675-89900675;C/G missense_variant False TCF3@p.E547D 1 0.215311005 ENSG00000071564 chr19:1615466-1615466;C/G missense_variant False TCF3@p.E547K 1 0.25 ENSG00000071564 chr19:1615468-1615468;C/T missense_variant False TCF3@p.E77K 1 0.6 ENSG00000071564 chr19:1632107-1632107;C/T missense_variant False TCF3@p.G436R 1 0.235294118 ENSG00000071564 chr19:1619336-1619336;C/G missense_variant False TCF3@p.Q542H 1 0.271186441 ENSG00000071564 chr19:1615481-1615481;C/G missense_variant False TCF4@p.D272Y 1 0.241758242 ENSG00000196628 chr18:55269939-55269939;C/A missense_variant False TCF4@p.D535H 1 0.136363636 ENSG00000196628 chr18:55232555-55232555;C/G missense_variant False TCF4@p.E551K 1 0.127906977 ENSG00000196628 chr18:55229063-55229063;C/T missense_variant False TCF4@p.E560K 1 0.482758621 ENSG00000196628 chr18:55229036-55229036;C/T missense_variant False TCF4@p.K14R 1 0.611111111 ENSG00000196628 chr18:55587076-55587076;T/C missense_variant False TDRD9@p.L482F 1 0.12195122 ENSG00000156414 chr14:103998691-103998691;G/C missense_variant False TDRD9@p.S842L 1 0.260869565 ENSG00000156414 chr14:104022249-104022249;C/T missense_variant False TET1@p.Q92E 1 0.311320755 ENSG00000138336 chr10:68572612-68572612;C/G missense_variant False TENM4@p.P1709H 1 0.144736842 ENSG00000149256 chr11:78688188-78688188;G/T missense_variant False TENM4@p.R976W 1 0.625 ENSG00000149256 chr11:78732528-78732528;G/A missense_variant False TENM4@p.R973W 1 0.416666667 ENSG00000149256 chr11:78732537-78732537;G/A missense_variant False TENM4@p.R2768W 1 0.395833333 ENSG00000149256 chr11:78658066-78658066;G/A missense_variant False TENM4@p.R2709T 1 0.238636364 ENSG00000149256 chr11:78658242-78658242;C/G missense_variant False TENM4@p.R1976K 1 0.147058824 ENSG00000149256 chr11:78670418-78670418;C/T missense_variant False TENM4@p.Q2696H 1 0.34375 ENSG00000149256 chr11:78658280-78658280;C/G missense_variant False TENM4@p.L2375F 1 0.318181818 ENSG00000149256 chr11:78669220-78669220;C/G missense_variant False TENM4@p.V2734L 1 0.406779661 ENSG00000149256 chr11:78658168-78658168;C/A missense_variant False TENM4@p.I1372M 1 0.615384615 ENSG00000149256 chr11:78708454-78708454;G/C missense_variant False TENM4@p.G1204Afs*60 1 0.126582278 ENSG00000149256 chr11:78722854-78722857;CTCC/- frameshift_variant False TENM4@p.E1777Q 1 0.617647059 ENSG00000149256 chr11:78676319-78676319;C/G missense_variant False TENM4@p.E1192D 1 0.393442623 ENSG00000149256 chr11:78722892-78722892;C/G missense_variant False TENM4@p.D1735N 1 0.23853211 ENSG00000149256 chr11:78688111-78688111;C/T missense_variant False TENM4@p.D1240N 1 0.277777778 ENSG00000149256 chr11:78722750-78722750;C/T missense_variant False TENM4@p.S1500T 1 0.111111111 ENSG00000149256 chr11:78702114-78702114;C/G missense_variant False TENM4@p.Y1482C 1 0.377358491 ENSG00000149256 chr11:78702168-78702168;T/C missense_variant False TDRKH@p.E433Q 1 0.330275229 ENSG00000182134 chr1:151775529-151775529;C/G missense_variant False TENT4B@p.R519K 1 0.465116279 ENSG00000121274 chr16:50224938-50224938;G/A missense_variant False TENT5B@p.E248K 1 0.3125 ENSG00000158246 chr1:27006480-27006480;C/T missense_variant False TENT5A@p.G291E 1 0.421875 ENSG00000112773 chr6:81750152-81750152;C/T missense_variant False TENT5A@p.E253K 1 0.208791209 ENSG00000112773 chr6:81750267-81750267;C/T missense_variant False TENT5A@p.D391N 1 0.808219178 ENSG00000112773 chr6:81749853-81749853;C/T missense_variant False TENT5A@p.D273H 1 0.179775281 ENSG00000112773 chr6:81750207-81750207;C/G missense_variant False TENT4B@p.R568K 1 0.535714286 ENSG00000121274 chr16:50225188-50225188;G/A missense_variant False TENT4B@p.F410S 1 0.2 ENSG00000121274 chr16:50223235-50223235;T/C missense_variant False TENM4@p.Y2239N 1 0.336065574 ENSG00000149256 chr11:78669630-78669630;A/T missense_variant False TENT4A@p.S605L 1 0.154929577 ENSG00000112941 chr5:6750457-6750457;C/T missense_variant False TENT4A@p.S604F 1 0.051094891 ENSG00000112941 chr5:6750454-6750454;C/T missense_variant False TENT4A@p.R664I 1 0.394736842 ENSG00000112941 chr5:6751169-6751169;G/T missense_variant False TENT4A@p.R545W 1 0.257894737 ENSG00000112941 chr5:6749603-6749603;C/T missense_variant False TENT4A@p.M644I 1 0.06547619 ENSG00000112941 chr5:6751110-6751110;G/A missense_variant False TENT4A@p.E464D 1 0.119402985 ENSG00000112941 chr5:6746360-6746360;G/C missense_variant False TENM3@p.V1279A 1 0.176470588 ENSG00000218336 chr4:182752006-182752006;T/C missense_variant False TENM3@p.V1040A 1 0.387755102 ENSG00000218336 chr4:182736959-182736959;T/C missense_variant False TENM3@p.S55L 1 0.258426966 ENSG00000218336 chr4:182324184-182324184;C/T missense_variant False TENM3@p.D1552H 1 0.222222222 ENSG00000218336 chr4:182755021-182755021;G/C missense_variant False TENM3@p.E2193K 1 0.317460317 ENSG00000218336 chr4:182793249-182793249;G/A missense_variant False TENM3@p.E129G 1 0.538461538 ENSG00000218336 chr4:182346804-182346804;A/G missense_variant False TENM3@p.D51H 1 0.174603175 ENSG00000218336 chr4:182324171-182324171;G/C missense_variant False TENM3@p.D2065del 1 0.133333333 ENSG00000218336 chr4:182792863-182792865;ATG/- inframe_deletion False TENM3@p.D1887H 1 0.085714286 ENSG00000218336 chr4:182792331-182792331;G/C missense_variant False TENM3@p.D1558Y 1 0.6 ENSG00000218336 chr4:182755039-182755039;G/T missense_variant False TENM3@p.D117N 1 0.4 ENSG00000218336 chr4:182346767-182346767;G/A missense_variant False TENM3@p.S1614I 1 0.1875 ENSG00000218336 chr4:182755208-182755208;G/T missense_variant False TENM3@p.A92E 1 0.487179487 ENSG00000218336 chr4:182346693-182346693;C/A missense_variant False TENM3@p.A1247Gfs*6 1 0.086956522 ENSG00000218336 chr4:182751904-182751905;-/G frameshift_variant False TENM2@p.Y1613C 1 0.087591241 ENSG00000145934 chr5:168218729-168218729;A/G missense_variant False TENM2@p.V2622A 1 0.352941176 ENSG00000145934 chr5:168262350-168262350;T/C missense_variant False TENM2@p.T979S 1 0.623376623 ENSG00000145934 chr5:168198887-168198887;A/T missense_variant False TENM2@p.R788Q 1 0.25 ENSG00000145934 chr5:168126907-168126907;G/A missense_variant False TENM3@p.E464Q 1 0.16 ENSG00000218336 chr4:182679729-182679729;G/C missense_variant False TENM3@p.E70K 1 0.6875 ENSG00000218336 chr4:182324228-182324228;G/A missense_variant False TENM3@p.F99V 1 0.125 ENSG00000218336 chr4:182346713-182346713;T/G missense_variant False TENM3@p.G1165R 1 0.222222222 ENSG00000218336 chr4:182743283-182743283;G/C missense_variant False TENM3@p.G538E 1 0.108695652 ENSG00000218336 chr4:182680323-182680323;G/A missense_variant False TENM3@p.I2104M 1 0.361702128 ENSG00000218336 chr4:182792984-182792984;T/G missense_variant False TENM3@p.K2052N 1 0.069230769 ENSG00000218336 chr4:182792828-182792828;A/C missense_variant False TENM3@p.L1564I 1 0.259259259 ENSG00000218336 chr4:182755057-182755057;C/A missense_variant False TENM3@p.L2043V 1 0.455223881 ENSG00000218336 chr4:182792799-182792799;C/G missense_variant False TENM3@p.L913V 1 0.142857143 ENSG00000218336 chr4:182730909-182730909;C/G missense_variant False TENM3@p.N1253I 1 0.576923077 ENSG00000218336 chr4:182751928-182751928;A/T missense_variant False TENM3@p.P2427S 1 0.357142857 ENSG00000218336 chr4:182796702-182796702;C/T missense_variant False TENM3@p.Q2105K 1 0.479166667 ENSG00000218336 chr4:182792985-182792985;C/A missense_variant False TENM3@p.R1237K 1 0.26 ENSG00000218336 chr4:182751880-182751880;G/A missense_variant False TENM3@p.R1576P 1 0.396226415 ENSG00000218336 chr4:182755094-182755094;G/C missense_variant False TENM3@p.R1965K 1 0.542857143 ENSG00000218336 chr4:182792566-182792566;G/A missense_variant False TENM3@p.R6C 1 0.208333333 ENSG00000218336 chr4:182324036-182324036;C/T missense_variant False TENT5B@p.G74V 1 0.130434783 ENSG00000158246 chr1:27012450-27012450;C/A missense_variant False TENT5B@p.R291W 1 0.2 ENSG00000158246 chr1:27006351-27006351;G/A missense_variant False TENT5C@p.D259H 1 0.225352113 ENSG00000183508 chr1:117623643-117623643;G/C missense_variant False TESK2@p.L426V 1 0.157894737 ENSG00000070759 chr1:45345280-45345280;G/C missense_variant False TESMIN@p.F49I 1 0.25 ENSG00000132749 chr11:68750516-68750516;A/T missense_variant False TESMIN@p.E334K 1 0.117647059 ENSG00000132749 chr11:68715857-68715857;C/T missense_variant False TESMIN@p.E278Q 1 0.240740741 ENSG00000132749 chr11:68738785-68738785;C/G missense_variant False TESK2@p.S241C 1 0.04494382 ENSG00000070759 chr1:45347049-45347049;G/C missense_variant False TESK2@p.R485C 1 0.15037594 ENSG00000070759 chr1:45345103-45345103;G/A missense_variant False TESK2@p.P385R 1 0.551181102 ENSG00000070759 chr1:45345402-45345402;G/C missense_variant False TESK2@p.I362M 1 0.189189189 ENSG00000070759 chr1:45345470-45345470;G/C missense_variant False TES@p.D158N 1 0.142857143 ENSG00000135269 chr7:116250266-116250266;G/A missense_variant False TESK2@p.E188K 1 0.272727273 ENSG00000070759 chr1:45347979-45347979;C/T missense_variant False TESK1@p.G117A 1 0.142857143 ENSG00000107140 chr9:35606245-35606245;G/C missense_variant False TESK1@p.E471D 1 0.269230769 ENSG00000107140 chr9:35609274-35609274;G/C missense_variant False TESK1@p.E449K 1 0.482142857 ENSG00000107140 chr9:35609206-35609206;G/A missense_variant False TESC@p.S21L 1 0.431818182 ENSG00000088992 chr12:117075337-117075337;G/A missense_variant False TES@p.Y87C 1 0.397058824 ENSG00000135269 chr7:116249166-116249166;A/G missense_variant False TESPA1@p.D155N 1 0.062893082 ENSG00000135426 chr12:54963934-54963934;C/T missense_variant False TESPA1@p.D383H 1 0.153846154 ENSG00000135426 chr12:54962751-54962751;C/G missense_variant False TESPA1@p.E159Q 1 0.096590909 ENSG00000135426 chr12:54963922-54963922;C/G missense_variant False TESPA1@p.P406L 1 0.379310345 ENSG00000135426 chr12:54962681-54962681;G/A missense_variant False TET1@p.E1467K 1 0.297297297 ENSG00000138336 chr10:68652532-68652532;G/A missense_variant False TET1@p.E1703K 1 0.276595745 ENSG00000138336 chr10:68686410-68686410;G/A missense_variant False TET1@p.E2069Q 1 0.17721519 ENSG00000138336 chr10:68691608-68691608;G/C missense_variant False TET1@p.E670Q 1 0.41509434 ENSG00000138336 chr10:68644737-68644737;G/C missense_variant False TET1@p.G1724Rfs*46 1 0.198113208 ENSG00000138336 chr10:68686470-68686471;-/A frameshift_variant False TET1@p.N93S 1 0.366666667 ENSG00000138336 chr10:68572616-68572616;A/G missense_variant False TET1@p.P1483A 1 0.21875 ENSG00000138336 chr10:68652580-68652580;C/G missense_variant False TET1@p.Q1125H 1 0.210526316 ENSG00000138336 chr10:68646104-68646104;G/C missense_variant False TET1@p.Q1196E 1 0.127906977 ENSG00000138336 chr10:68646315-68646315;C/G missense_variant False TET1@p.Q245E 1 0.282608696 ENSG00000138336 chr10:68573071-68573071;C/G missense_variant False TET1@p.Q269E 1 0.287671233 ENSG00000138336 chr10:68573143-68573143;C/G missense_variant False TET1@p.Q355E 1 0.483870968 ENSG00000138336 chr10:68573401-68573401;C/G missense_variant False TET1@p.Q647H 1 0.152542373 ENSG00000138336 chr10:68601007-68601007;G/C missense_variant False TES@p.E185K 1 0.328125 ENSG00000135269 chr7:116250347-116250347;G/A missense_variant False TERT@p.N204K 1 0.133333333 ENSG00000164362 chr5:1294274-1294274;G/C missense_variant False TENT5C@p.M12V 1 0.125 ENSG00000183508 chr1:117622902-117622902;A/G missense_variant False TEP1@p.H135D 1 0.075757576 ENSG00000129566 chr14:20408037-20408037;G/C missense_variant False TEP1@p.R396H 1 0.465346535 ENSG00000129566 chr14:20403730-20403730;C/T missense_variant False TEP1@p.R2221L 1 0.583333333 ENSG00000129566 chr14:20373526-20373526;C/A missense_variant False TEP1@p.Q80H 1 0.206349206 ENSG00000129566 chr14:20408200-20408200;C/G missense_variant False TEP1@p.Q1024E 1 0.237113402 ENSG00000129566 chr14:20385022-20385022;G/C missense_variant False TEP1@p.P2512A 1 0.176470588 ENSG00000129566 chr14:20369466-20369466;G/C missense_variant False TEP1@p.L45Rfs*6 1 0.65 ENSG00000129566 chr14:20408306-20408307;-/GGATATTC frameshift_variant False TEP1@p.G1081C 1 0.344 ENSG00000129566 chr14:20384489-20384489;C/A missense_variant False TERT@p.L853V 1 0.588235294 ENSG00000164362 chr5:1268545-1268545;G/C missense_variant False TEP1@p.G1081A 1 0.446153846 ENSG00000129566 chr14:20384488-20384488;C/G missense_variant False TEP1@p.E419Q 1 0.398907104 ENSG00000129566 chr14:20403388-20403388;C/G missense_variant False TEP1@p.D860E 1 0.424242424 ENSG00000129566 chr14:20388009-20388009;G/C missense_variant False TEP1@p.D2576H 1 0.142857143 ENSG00000129566 chr14:20368833-20368833;C/G missense_variant False TENT5D@p.R383C 1 0.148148148 ENSG00000174016 chrX:80443686-80443686;C/T missense_variant False TENT5C@p.R151C 1 0.240506329 ENSG00000183508 chr1:117623319-117623319;C/T missense_variant False TEP1@p.S2522C 1 0.246575342 ENSG00000129566 chr14:20369435-20369435;G/C missense_variant False TEPP@p.S259Y 1 0.275862069 None chr16:57985932-57985932;C/A missense_variant False TEPSIN@p.L247F 1 0.40625 ENSG00000167302 chr17:81231652-81231652;C/G missense_variant False TERB2@p.K183N 1 0.21875 ENSG00000167014 chr15:44978514-44978514;G/C missense_variant False TERB2@p.K218N 1 0.109090909 ENSG00000167014 chr15:44978619-44978619;G/C missense_variant False TERF1@p.E106K 1 0.24 ENSG00000147601 chr8:73009202-73009202;G/A missense_variant False TERF1@p.E55K 1 0.5 ENSG00000147601 chr8:73009049-73009049;G/A missense_variant False TERF1@p.E58K 1 0.228571429 ENSG00000147601 chr8:73009058-73009058;G/A missense_variant False TERF1@p.Q27H 1 0.204081633 ENSG00000147601 chr8:73008967-73008967;G/C missense_variant False TERF2@p.E165K 1 0.291139241 ENSG00000132604 chr16:69384693-69384693;C/T missense_variant False TERF2@p.Q505H 1 0.170731707 ENSG00000132604 chr16:69357012-69357012;C/G missense_variant False TERF2@p.R111G 1 0.125 ENSG00000132604 chr16:69385641-69385641;G/C missense_variant False TERF2@p.S150P 1 0.113163972 ENSG00000132604 chr16:69385418-69385418;A/G missense_variant False TERF2IP@p.F31L 1 0.178082192 ENSG00000166848 chr16:75647975-75647975;C/G missense_variant False TERF2IP@p.L329I 1 0.364864865 ENSG00000166848 chr16:75656396-75656396;C/A missense_variant False TERF2IP@p.R55Q 1 0.461538462 ENSG00000166848 chr16:75648046-75648046;G/A missense_variant False TERF2IP@p.V390L 1 0.459016393 ENSG00000166848 chr16:75656579-75656579;G/T missense_variant False TENM2@p.R768H 1 0.666666667 ENSG00000145934 chr5:168126847-168126847;G/A missense_variant False TENM2@p.R1413H 1 0.181818182 ENSG00000145934 chr5:168218129-168218129;G/A missense_variant False TENM2@p.Q2272H 1 0.166666667 ENSG00000145934 chr5:168247755-168247755;G/C missense_variant False TECRL@p.S37L 1 0.256410256 ENSG00000205678 chr4:64409242-64409242;G/A missense_variant False TECTA@p.D653N 1 0.206896552 ENSG00000109927 chr11:121127934-121127934;G/A missense_variant False TECTA@p.D334H 1 0.119047619 ENSG00000109927 chr11:121118515-121118515;G/C missense_variant False TECTA@p.C1722S 1 0.5 ENSG00000109927 chr11:121162263-121162263;G/C missense_variant False TECTA@p.C1036G 1 0.362068966 ENSG00000109927 chr11:121137585-121137585;T/G missense_variant False TECTA@p.A1046T 1 0.227272727 ENSG00000109927 chr11:121137615-121137615;G/A missense_variant False TECRL@p.Y234C 1 0.239583333 ENSG00000205678 chr4:64305195-64305195;T/C missense_variant False TECRL@p.R103P 1 0.246575342 ENSG00000205678 chr4:64328535-64328535;C/G missense_variant False TECPR2@p.S372L 1 0.247933884 ENSG00000196663 chr14:102431826-102431826;C/T missense_variant False TECRL@p.Q122K 1 0.337662338 ENSG00000205678 chr4:64322760-64322760;G/T missense_variant False TECRL@p.P286L 1 0.461538462 ENSG00000205678 chr4:64281535-64281535;G/A missense_variant False TECRL@p.F2L 1 0.263157895 ENSG00000205678 chr4:64409346-64409346;G/C missense_variant False TECR@p.Y178S 1 0.236842105 ENSG00000099797 chr19:14564829-14564829;A/C missense_variant False TECR@p.L183V 1 0.131736527 ENSG00000099797 chr19:14564843-14564843;C/G missense_variant False TECR@p.I29T 1 0.315789474 ENSG00000099797 chr19:14563225-14563225;T/C missense_variant False TECTA@p.D91N 1 0.12 ENSG00000109927 chr11:121109283-121109283;G/A missense_variant False TECTA@p.E1073K 1 0.288135593 ENSG00000109927 chr11:121137696-121137696;G/A missense_variant False TECTA@p.E110Q 1 0.336956522 ENSG00000109927 chr11:121109340-121109340;G/C missense_variant False TECTA@p.E632K 1 0.163636364 ENSG00000109927 chr11:121127871-121127871;G/A missense_variant False TECTA@p.K529N 1 0.133603239 ENSG00000109927 chr11:121125685-121125685;G/C missense_variant False TECTA@p.Q1234H 1 0.21875 ENSG00000109927 chr11:121145713-121145713;G/T missense_variant False TECTA@p.R399T 1 0.31884058 ENSG00000109927 chr11:121118711-121118711;G/C missense_variant False TECTA@p.S2124C 1 0.173913043 ENSG00000109927 chr11:121190709-121190709;C/G missense_variant False TECTA@p.V429M 1 0.861111111 ENSG00000109927 chr11:121125383-121125383;G/A missense_variant False TECTA@p.V932I 1 0.125 ENSG00000109927 chr11:121130064-121130064;G/A missense_variant False TECTB@p.E152K 1 0.421052632 ENSG00000119913 chr10:112286362-112286362;G/A missense_variant False TECTB@p.G56V 1 0.396551724 ENSG00000119913 chr10:112284625-112284625;G/T missense_variant False TECTB@p.S19L 1 0.625 ENSG00000119913 chr10:112283790-112283790;C/T missense_variant False TEDC2@p.E283K 1 0.25 ENSG00000162062 chr16:2462511-2462511;G/A missense_variant False TEDC2@p.S120C 1 0.074074074 ENSG00000162062 chr16:2460978-2460978;C/G missense_variant False TEDDM1@p.L111V 1 0.047619048 ENSG00000203730 chr1:182400155-182400155;G/C missense_variant False TEDDM1@p.V136L 1 0.104761905 ENSG00000203730 chr1:182400080-182400080;C/G missense_variant False TECPR2@p.T1052I 1 0.106060606 ENSG00000196663 chr14:102449708-102449708;C/T missense_variant False TECPR2@p.N696D 1 0.125 ENSG00000196663 chr14:102434903-102434903;A/G missense_variant False TEF@p.S113N 1 0.529411765 ENSG00000167074 chr22:41387531-41387531;G/A missense_variant False TEAD2@p.V231I 1 0.473684211 ENSG00000074219 chr19:49348747-49348747;C/T missense_variant False TEAD4@p.S25F 1 0.125925926 ENSG00000197905 chr12:2994840-2994840;C/T missense_variant False TEAD4@p.P190S 1 0.3507109 ENSG00000197905 chr12:3019155-3019155;C/T missense_variant False TEAD3@p.Q41H 1 0.288461538 ENSG00000007866 chr6:35486540-35486540;C/G missense_variant False TEAD3@p.E63Q 1 0.096153846 ENSG00000007866 chr6:35486476-35486476;C/G missense_variant False TEAD3@p.E32Q 1 0.317073171 ENSG00000007866 chr6:35486569-35486569;C/G missense_variant False TEAD3@p.D267N 1 0.32 ENSG00000007866 chr6:35476020-35476020;C/T missense_variant False TEAD2@p.R95Q 1 0.458471761 ENSG00000074219 chr19:49359448-49359448;C/T missense_variant False TECPR2@p.L59V 1 0.476190476 ENSG00000196663 chr14:102376896-102376896;C/G missense_variant False TEAD2@p.E395Q 1 0.263736264 ENSG00000074219 chr19:49342485-49342485;C/G missense_variant False TEAD2@p.E334K 1 0.252747253 ENSG00000074219 chr19:49343308-49343308;C/T missense_variant False TEAD1@p.E374Q 1 0.161616162 ENSG00000187079 chr11:12930279-12930279;G/C missense_variant False TEAD1@p.D62H 1 0.244444444 ENSG00000187079 chr11:12764416-12764416;G/C missense_variant False TDRP@p.E79Q 1 0.060869565 ENSG00000180190 chr8:492722-492722;C/G missense_variant False TDRKH@p.H303Y 1 0.459459459 ENSG00000182134 chr1:151776576-151776576;G/A missense_variant False TEAD4@p.V42M 1 0.276666667 ENSG00000197905 chr12:2994890-2994890;G/A missense_variant False TEC@p.D178N 1 0.198275862 ENSG00000135605 chr4:48167917-48167917;C/T missense_variant False TEC@p.E201K 1 0.064171123 ENSG00000135605 chr4:48167848-48167848;C/T missense_variant False TEC@p.E267Q 1 0.164556962 ENSG00000135605 chr4:48150936-48150936;C/G missense_variant False TEC@p.E402V 1 0.115606936 ENSG00000135605 chr4:48145456-48145456;T/A missense_variant False TEC@p.Q75E 1 0.321678322 ENSG00000135605 chr4:48176102-48176102;G/C missense_variant False TEC@p.R563T 1 0.203125 ENSG00000135605 chr4:48138789-48138789;C/G missense_variant False TEC@p.S546L 1 0.45 ENSG00000135605 chr4:48138921-48138921;G/A missense_variant False TECPR1@p.G1007S 1 0.235294118 ENSG00000205356 chr7:98222431-98222431;C/T missense_variant False TECPR1@p.P1032L 1 0.247311828 ENSG00000205356 chr7:98221723-98221723;G/A missense_variant False TECPR1@p.Q581H 1 0.12345679 ENSG00000205356 chr7:98232902-98232902;C/G missense_variant False TECPR1@p.S444L 1 0.470588235 ENSG00000205356 chr7:98233762-98233762;G/A missense_variant False TECPR1@p.S446L 1 0.486486486 ENSG00000205356 chr7:98233756-98233756;G/A missense_variant False TECPR1@p.S502L 1 0.785714286 ENSG00000205356 chr7:98233588-98233588;G/A missense_variant False TECPR2@p.E373Q 1 0.245098039 ENSG00000196663 chr14:102431828-102431828;G/C missense_variant False TECPR2@p.E710Q 1 0.192307692 ENSG00000196663 chr14:102434945-102434945;G/C missense_variant False TECPR2@p.E773K 1 0.34 ENSG00000196663 chr14:102435134-102435134;G/A missense_variant False TEF@p.N175S 1 0.385416667 ENSG00000167074 chr22:41394144-41394144;A/G missense_variant False TEF@p.S136C 1 0.15 ENSG00000167074 chr22:41387600-41387600;C/G missense_variant False TENM2@p.Q1827H 1 0.146341463 ENSG00000145934 chr5:168228091-168228091;G/C missense_variant False TENM1@p.P1146S 1 0.132653061 ENSG00000009694 chrX:124503569-124503569;G/A missense_variant False TENM1@p.R968K 1 0.397058824 ENSG00000009694 chrX:124523494-124523494;C/T missense_variant False TENM1@p.R2724S 1 0.514285714 ENSG00000009694 chrX:124380542-124380542;C/G missense_variant False TENM1@p.R218S 1 0.828571429 ENSG00000009694 chrX:124737079-124737079;C/A missense_variant False TENM1@p.R1590C 1 0.928571429 ENSG00000009694 chrX:124420504-124420504;G/A missense_variant False TENM1@p.Q1147H 1 0.129032258 ENSG00000009694 chrX:124503564-124503564;T/A missense_variant False TENM1@p.P1939S 1 0.492647059 ENSG00000009694 chrX:124385917-124385917;G/A missense_variant False TENM1@p.N2088_M2096del 1 0.15 ENSG00000009694 chrX:124384620-124384646;TTCATCACTGTAGTAGTTATGACCTGA/- inframe_deletion False TENM1@p.E1009Q 1 0.232876712 ENSG00000009694 chrX:124523372-124523372;C/G missense_variant False TENM1@p.L2453V 1 0.924731183 ENSG00000009694 chrX:124382732-124382732;A/C missense_variant False TENM1@p.L1928F 1 0.916666667 ENSG00000009694 chrX:124385950-124385950;G/A missense_variant False TENM1@p.I2125T 1 0.328358209 ENSG00000009694 chrX:124384536-124384536;A/G missense_variant False TENM1@p.G571A 1 0.437209302 ENSG00000009694 chrX:124645307-124645307;C/G missense_variant False TENM1@p.G555E 1 0.296296296 ENSG00000009694 chrX:124646726-124646726;C/T missense_variant False TENM1@p.E947Q 1 0.888888889 ENSG00000009694 chrX:124523558-124523558;C/G missense_variant False TENM1@p.S490L 1 0.912280702 ENSG00000009694 chrX:124652024-124652024;G/A missense_variant False TENM1@p.Y2350C 1 0.446428571 ENSG00000009694 chrX:124383861-124383861;T/C missense_variant False TENM2@p.C1228W 1 0.179104478 ENSG00000145934 chr5:168204481-168204481;C/G missense_variant False TENM2@p.D1741N 1 0.333333333 ENSG00000145934 chr5:168226200-168226200;G/A missense_variant False TENM2@p.E1058K 1 0.39380531 ENSG00000145934 chr5:168199873-168199873;G/A missense_variant False TENM2@p.E1233K 1 0.309859155 ENSG00000145934 chr5:168204494-168204494;G/A missense_variant False TENM2@p.E1341K 1 0.807692308 ENSG00000145934 chr5:168215215-168215215;G/A missense_variant False TENM2@p.E1584Q 1 0.184313725 ENSG00000145934 chr5:168218641-168218641;G/C missense_variant False TENM2@p.E1991K 1 0.198113208 ENSG00000145934 chr5:168246910-168246910;G/A missense_variant False TENM2@p.E2121Q 1 0.164285714 ENSG00000145934 chr5:168247300-168247300;G/C missense_variant False TENM2@p.E452D 1 0.24137931 ENSG00000145934 chr5:168062106-168062106;A/C missense_variant False TENM2@p.E632Q 1 0.047619048 ENSG00000145934 chr5:168118372-168118372;G/C missense_variant False TENM2@p.G975S 1 0.8 ENSG00000145934 chr5:168198875-168198875;G/A missense_variant False TENM2@p.I495R 1 0.264150943 ENSG00000145934 chr5:168062234-168062234;T/G missense_variant False TENM2@p.L2049F 1 0.441860465 ENSG00000145934 chr5:168247086-168247086;G/C missense_variant False TENM2@p.M562K 1 0.23943662 ENSG00000145934 chr5:168090743-168090743;T/A missense_variant False TENM2@p.Q1382H 1 0.289473684 ENSG00000145934 chr5:168216835-168216835;G/C missense_variant False TENM1@p.E1763Q 1 0.1625 ENSG00000009694 chrX:124405114-124405114;C/G missense_variant False TENM1@p.D384N 1 0.130434783 ENSG00000009694 chrX:124671701-124671701;C/T missense_variant False TEFM@p.E286K 1 0.324324324 ENSG00000172171 chr17:30899396-30899396;C/T missense_variant False TEK@p.N722K 1 0.117647059 ENSG00000120156 chr9:27203076-27203076;C/G missense_variant False TEKT2@p.D111Mfs*7 1 0.421052632 ENSG00000092850 chr1:36085883-36085883;G/- frameshift_variant False TEKT1@p.R413C 1 0.368686869 ENSG00000167858 chr17:6800047-6800047;G/A missense_variant False TEK@p.Y816D 1 0.540540541 ENSG00000120156 chr9:27206663-27206663;T/G missense_variant False TEK@p.S164L 1 0.139455782 ENSG00000120156 chr9:27169492-27169492;C/T missense_variant False TEK@p.P447T 1 0.247747748 ENSG00000120156 chr9:27190540-27190540;C/A missense_variant False TEK@p.P445T 1 0.18627451 ENSG00000120156 chr9:27190534-27190534;C/A missense_variant False TEK@p.L9F 1 0.359477124 ENSG00000120156 chr9:27109615-27109615;C/T missense_variant False TENM1@p.D2365H 1 0.205357143 ENSG00000009694 chrX:124383817-124383817;C/G missense_variant False TEK@p.L911M 1 0.086956522 ENSG00000120156 chr9:27212751-27212751;C/A missense_variant False TEK@p.G744E 1 0.772727273 ENSG00000120156 chr9:27204932-27204932;G/A missense_variant False TEK@p.G548A 1 0.097560976 ENSG00000120156 chr9:27197333-27197333;G/C missense_variant False TEK@p.E571K 1 0.178294574 ENSG00000120156 chr9:27197401-27197401;G/A missense_variant False TEFM@p.L257V 1 0.130081301 ENSG00000172171 chr17:30899483-30899483;G/C missense_variant False TEFM@p.I180T 1 0.115384615 ENSG00000172171 chr17:30900519-30900519;A/G missense_variant False TEKT2@p.E140Q 1 0.176470588 ENSG00000092850 chr1:36085971-36085971;G/C missense_variant False TEKT2@p.Q31H 1 0.12 ENSG00000092850 chr1:36085014-36085014;G/C missense_variant False TEKT2@p.R32P 1 0.11627907 ENSG00000092850 chr1:36085016-36085016;G/C missense_variant False TEKT3@p.P49S 1 0.111111111 ENSG00000125409 chr17:15331441-15331441;G/A missense_variant False TEKT3@p.R439M 1 0.195652174 ENSG00000125409 chr17:15304093-15304093;C/A missense_variant False TEKT3@p.S117L 1 0.427672956 ENSG00000125409 chr17:15331236-15331236;G/A missense_variant False TEKT4@p.A23S 1 0.285714286 ENSG00000163060 chr2:94871646-94871646;G/T missense_variant False TEKT4@p.C48W 1 0.166666667 ENSG00000163060 chr2:94871723-94871723;C/G missense_variant False TEKT5@p.Q330K 1 0.3 ENSG00000153060 chr16:10676057-10676057;G/T missense_variant False TEKT5@p.V248M 1 0.452380952 ENSG00000153060 chr16:10682114-10682114;C/T missense_variant False TELO2@p.A817S 1 0.260869565 ENSG00000100726 chr16:1509871-1509871;G/T missense_variant False TELO2@p.H17D 1 0.331550802 ENSG00000100726 chr16:1494330-1494330;C/G missense_variant False TELO2@p.R170L 1 0.260869565 ENSG00000100726 chr16:1495519-1495519;G/T missense_variant False TELO2@p.S597L 1 0.093596059 ENSG00000100726 chr16:1502950-1502950;C/T missense_variant False TENM1@p.C607F 1 0.342342342 ENSG00000009694 chrX:124645199-124645199;C/A missense_variant False TENM1@p.D1480H 1 0.13559322 ENSG00000009694 chrX:124422284-124422284;C/G missense_variant False TENM1@p.D1802H 1 0.370786517 ENSG00000009694 chrX:124392315-124392315;C/G missense_variant False TIGD3@p.L296Cfs*92 1 0.2375 ENSG00000173825 chr11:65356691-65356691;C/- frameshift_variant False TIGD3@p.L428Cfs*14 1 0.530864198 ENSG00000173825 chr11:65357087-65357087;C/- frameshift_variant False TIGD4@p.D173Y 1 0.314814815 ENSG00000169989 chr4:152770488-152770488;C/A missense_variant False TMEM87A@p.E503K 1 0.235294118 ENSG00000103978 chr15:42219613-42219613;C/T missense_variant False TMEM89@p.H139N 1 0.276119403 ENSG00000183396 chr3:48620907-48620907;G/T missense_variant False TMEM87B@p.K553N 1 0.21875 ENSG00000153214 chr2:112116134-112116134;G/C missense_variant False TMEM87B@p.E262Q 1 0.358108108 ENSG00000153214 chr2:112081464-112081464;G/C missense_variant False TMEM87A@p.S301L 1 0.363157895 ENSG00000103978 chr15:42236386-42236386;G/A missense_variant False TMEM87A@p.R551Kfs*14 1 0.315217391 ENSG00000103978 chr15:42211724-42211725;-/T frameshift_variant False TMEM87A@p.G56A 1 0.459016393 ENSG00000103978 chr15:42272101-42272101;C/G missense_variant False TMEM87A@p.E482K 1 0.233333333 ENSG00000103978 chr15:42220095-42220095;C/T missense_variant False TMEM8B@p.R377H 1 0.815789474 ENSG00000137103 chr9:35853551-35853551;G/A missense_variant False TMEM87A@p.E272Q 1 0.076923077 ENSG00000103978 chr15:42237486-42237486;C/G missense_variant False TMEM87A@p.E102Q 1 0.314814815 ENSG00000103978 chr15:42264191-42264191;C/G missense_variant False TMEM81@p.S155C 1 0.333333333 ENSG00000174529 chr1:205083857-205083857;G/C missense_variant False TMEM81@p.A16P 1 0.12244898 ENSG00000174529 chr1:205084275-205084275;C/G missense_variant False TMEM80@p.L105V 1 0.533333333 ENSG00000177042 chr11:702998-702998;C/G missense_variant False TMEM80@p.E96K 1 0.193548387 ENSG00000177042 chr11:702971-702971;G/A missense_variant False TMEM89@p.T77del 1 0.166666667 ENSG00000183396 chr3:48621527-48621529;GTG/- inframe_deletion False TMEM8B@p.S437C 1 0.426666667 ENSG00000137103 chr9:35853731-35853731;C/G missense_variant False TMPRSS4@p.W256R 1 0.467836257 ENSG00000137648 chr11:118113291-118113291;T/C missense_variant False TMEM94@p.S880C 1 0.31092437 ENSG00000177728 chr17:75494945-75494945;C/G missense_variant False TMEM9B@p.E90K 1 0.465116279 ENSG00000175348 chr11:8956228-8956228;C/T missense_variant False TMEM9@p.D26H 1 0.087719298 ENSG00000116857 chr1:201151843-201151843;C/G missense_variant False TMEM98@p.M119I 1 0.420289855 ENSG00000006042 chr17:32936391-32936391;G/C missense_variant False TMEM98@p.L104V 1 0.287878788 ENSG00000006042 chr17:32936344-32936344;C/G missense_variant False TMEM97@p.P4A 1 0.194444444 ENSG00000109084 chr17:28319249-28319249;C/G missense_variant False TMEM95@p.S138I 1 0.671755725 ENSG00000182896 chr17:7356395-7356395;G/T missense_variant False TMEM94@p.S573C 1 0.423076923 ENSG00000177728 chr17:75492595-75492595;C/G missense_variant False TMEM8B@p.S437F 1 0.604166667 ENSG00000137103 chr9:35853731-35853731;C/T missense_variant False TMEM94@p.S1064F 1 0.282051282 ENSG00000177728 chr17:75496419-75496419;C/T missense_variant False TMEM94@p.L1211V 1 0.285714286 ENSG00000177728 chr17:75498316-75498316;C/G missense_variant False TMEM94@p.E872Q 1 0.226277372 ENSG00000177728 chr17:75494920-75494920;G/C missense_variant False TMEM94@p.E485Q 1 0.205479452 ENSG00000177728 chr17:75491757-75491757;G/C missense_variant False TMEM94@p.D721H 1 0.436781609 ENSG00000177728 chr17:75493565-75493565;G/C missense_variant False TMEM92@p.E107D 1 0.166666667 ENSG00000167105 chr17:50278951-50278951;G/C missense_variant False TMEM79@p.R48K 1 0.107142857 ENSG00000163472 chr1:156285369-156285369;G/A missense_variant False TMEM79@p.R268W 1 0.155844156 ENSG00000163472 chr1:156286304-156286304;C/T missense_variant False TMEM79@p.A382V 1 0.218390805 ENSG00000163472 chr1:156291558-156291558;C/T missense_variant False TMEM63C@p.S457C 1 0.449074074 ENSG00000165548 chr14:77244377-77244377;C/G missense_variant False TMEM67@p.G456E 1 0.14893617 ENSG00000164953 chr8:93786301-93786301;G/A missense_variant False TMEM67@p.A10V 1 0.18 ENSG00000164953 chr8:93754943-93754943;C/T missense_variant False TMEM65@p.L191V 1 0.238095238 ENSG00000164983 chr8:124320136-124320136;G/C missense_variant False TMEM65@p.L164V 1 0.64 ENSG00000164983 chr8:124322130-124322130;G/C missense_variant False TMEM65@p.D132H 1 0.25 ENSG00000164983 chr8:124327377-124327377;C/G missense_variant False TMEM63C@p.Y381C 1 0.429104478 ENSG00000165548 chr14:77242424-77242424;A/G missense_variant False TMEM63C@p.F669L 1 0.436363636 ENSG00000165548 chr14:77249427-77249427;C/A missense_variant False TMEM74@p.W141R 1 0.125 ENSG00000164841 chr8:108784678-108784678;A/G missense_variant False TMEM63C@p.F422L 1 0.388888889 ENSG00000165548 chr14:77242981-77242981;C/G missense_variant False TMEM63B@p.W431C 1 0.422222222 ENSG00000137216 chr6:44148825-44148825;G/C missense_variant False TMEM63B@p.E829K 1 0.173076923 ENSG00000137216 chr6:44154869-44154869;G/A missense_variant False TMEM63B@p.E606K 1 0.36 ENSG00000137216 chr6:44151988-44151988;G/A missense_variant False TMEM63B@p.D147N 1 0.235294118 ENSG00000137216 chr6:44139498-44139498;G/A missense_variant False TMEM63B@p.D117H 1 0.25 ENSG00000137216 chr6:44136419-44136419;G/C missense_variant False TMEM67@p.I131V 1 0.441558442 ENSG00000164953 chr8:93758561-93758561;A/G missense_variant False TMEM67@p.K384N 1 0.095541401 ENSG00000164953 chr8:93785242-93785242;G/C missense_variant False TMEM67@p.L940P 1 0.206896552 ENSG00000164953 chr8:93815359-93815359;T/C missense_variant False TMEM67@p.P601T 1 0.201117318 ENSG00000164953 chr8:93795928-93795928;C/A missense_variant False TMEM67@p.Q605E 1 0.291262136 ENSG00000164953 chr8:93795940-93795940;C/G missense_variant False TMEM67@p.Q69H 1 0.091205212 ENSG00000164953 chr8:93755121-93755121;G/C missense_variant False TMEM67@p.T611S 1 0.257142857 ENSG00000164953 chr8:93795958-93795958;A/T missense_variant False TMEM68@p.E185Q 1 0.1 ENSG00000167904 chr8:55751098-55751098;C/G missense_variant False TMEM68@p.R153Q 1 0.142857143 ENSG00000167904 chr8:55756279-55756279;C/T missense_variant False TMEM69@p.G240R 1 0.350877193 ENSG00000159596 chr1:45693879-45693879;G/A missense_variant False TMEM71@p.A259T 1 0.1125 ENSG00000165071 chr8:132714193-132714193;C/T missense_variant False TMEM71@p.Q6E 1 0.154040404 ENSG00000165071 chr8:132758864-132758864;G/C missense_variant False TMEM71@p.S214F 1 0.302521008 ENSG00000165071 chr8:132727833-132727833;G/A missense_variant False TMEM71@p.S45C 1 0.222222222 ENSG00000165071 chr8:132751965-132751965;G/C missense_variant False TMEM74@p.E297Q 1 0.164383562 ENSG00000164841 chr8:108784210-108784210;C/G missense_variant False TMEM74@p.R216H 1 0.266666667 ENSG00000164841 chr8:108784452-108784452;C/T missense_variant False TMEM74@p.W141L 1 0.130841121 ENSG00000164841 chr8:108784677-108784677;C/A missense_variant False TMF1@p.E585Q 1 0.095238095 ENSG00000144747 chr3:69039625-69039625;C/G missense_variant False TMF1@p.E648K 1 0.166666667 ENSG00000144747 chr3:69038895-69038895;C/T missense_variant False TMF1@p.F100Y 1 0.305699482 ENSG00000144747 chr3:69048406-69048406;A/T missense_variant False TMPRSS11F@p.V53del 1 0.153846154 ENSG00000198092 chr4:68098890-68098892;CAA/- inframe_deletion False TMPRSS15@p.E1012K 1 0.125 ENSG00000154646 chr21:18269995-18269995;C/T missense_variant False TMPRSS13@p.R13T 1 0.076923077 ENSG00000137747 chr11:117918822-117918822;C/G missense_variant False TMPRSS13@p.P51T 1 0.158730159 ENSG00000137747 chr11:117918709-117918709;G/T missense_variant False TMPRSS12@p.S34L 1 0.444444444 ENSG00000186452 chr12:50843065-50843065;C/T missense_variant False TMPRSS12@p.D262N 1 0.3 ENSG00000186452 chr12:50885377-50885377;G/A missense_variant False TMPRSS11F@p.W259C 1 0.266666667 ENSG00000198092 chr4:68064923-68064923;C/G missense_variant False TMPRSS11F@p.S58F 1 0.243902439 ENSG00000198092 chr4:68090632-68090632;G/A missense_variant False TMPRSS11E@p.R70T 1 0.099206349 ENSG00000087128 chr4:68466703-68466703;G/C missense_variant False TMPRSS11F@p.R346W 1 0.551724138 ENSG00000198092 chr4:68059448-68059448;G/A missense_variant False TMPRSS11F@p.R205T 1 0.192771084 ENSG00000198092 chr4:68068759-68068759;C/G missense_variant False TMPRSS11F@p.Q258E 1 0.361702128 ENSG00000198092 chr4:68064928-68064928;G/C missense_variant False TMPRSS11F@p.L181V 1 0.166064982 ENSG00000198092 chr4:68069981-68069981;G/C missense_variant False TMPRSS11F@p.E10V 1 0.127659574 ENSG00000198092 chr4:68099021-68099021;T/A missense_variant False TMPRSS11E@p.V160G 1 0.865853659 ENSG00000087128 chr4:68471612-68471612;T/G missense_variant False TMPRSS15@p.E343D 1 0.175 ENSG00000154646 chr21:18353045-18353045;C/G missense_variant False TMPRSS15@p.I27T 1 0.575471698 ENSG00000154646 chr21:18403543-18403543;A/G missense_variant False TMPRSS15@p.K290N 1 0.144 ENSG00000154646 chr21:18359767-18359767;C/A missense_variant False TMPRSS15@p.K644R 1 0.357142857 ENSG00000154646 chr21:18315247-18315247;T/C missense_variant False TMPRSS15@p.L24F 1 0.349206349 ENSG00000154646 chr21:18403553-18403553;G/A missense_variant False TMPRSS15@p.P934L 1 0.162162162 ENSG00000154646 chr21:18275300-18275300;G/A missense_variant False TMPRSS15@p.S789G 1 0.173228346 ENSG00000154646 chr21:18294391-18294391;T/C missense_variant False TMPRSS15@p.Y920H 1 0.352941176 ENSG00000154646 chr21:18278970-18278970;A/G missense_variant False TMPRSS2@p.L302F 1 0.104477612 ENSG00000184012 chr21:41471977-41471977;G/A missense_variant False TMPRSS2@p.R252L 1 0.551724138 ENSG00000184012 chr21:41473469-41473469;C/A missense_variant False TMPRSS2@p.S116C 1 0.735849057 ENSG00000184012 chr21:41488492-41488492;G/C missense_variant False TMPRSS2@p.S232Y 1 0.141025641 ENSG00000184012 chr21:41476609-41476609;G/T missense_variant False TMPRSS2@p.S318C 1 0.282608696 ENSG00000184012 chr21:41471928-41471928;G/C missense_variant False TMPRSS3@p.S366Y 1 0.391608392 ENSG00000160183 chr21:42376638-42376638;G/T missense_variant False TMPRSS4@p.D315N 1 0.363636364 ENSG00000137648 chr11:118114861-118114861;G/A missense_variant False TMPRSS4@p.E98K 1 0.189189189 ENSG00000137648 chr11:118103235-118103235;G/A missense_variant False TMPRSS4@p.L426V 1 0.097826087 ENSG00000137648 chr11:118117428-118117428;C/G missense_variant False TMPRSS11E@p.V14I 1 0.426426426 ENSG00000087128 chr4:68461849-68461849;G/A missense_variant False TMPRSS11D@p.G345Efs*28 1 0.338028169 ENSG00000153802 chr4:67825793-67825793;C/- frameshift_variant False TMF1@p.H957Y 1 0.307692308 ENSG00000144747 chr3:69025703-69025703;G/A missense_variant False TMIGD1@p.Q152E 1 0.057971014 ENSG00000182271 chr17:30325002-30325002;G/C missense_variant False TMOD2@p.E151K 1 0.282608696 ENSG00000128872 chr15:51776976-51776976;G/A missense_variant False TMOD1@p.V183L 1 0.4375 ENSG00000136842 chr9:97564097-97564097;G/C missense_variant False TMIGD3@p.S35L 1 0.118644068 ENSG00000121933 chr1:111563849-111563849;G/A missense_variant False TMIGD3@p.I220N 1 0.416666667 ENSG00000121933 chr1:111485811-111485811;A/T missense_variant False TMIGD2@p.P265R 1 0.106382979 ENSG00000167664 chr19:4292654-4292654;G/C missense_variant False TMIGD1@p.V33A 1 0.471698113 ENSG00000182271 chr17:30329514-30329514;A/G missense_variant False TMIGD1@p.K4N 1 0.057142857 ENSG00000182271 chr17:30332122-30332122;C/G missense_variant False TMPRSS11D@p.G243A 1 0.4 ENSG00000153802 chr4:67827485-67827485;C/G missense_variant False TMIGD1@p.I99M 1 0.26984127 ENSG00000182271 chr17:30329315-30329315;G/C missense_variant False TMIE@p.K146N 1 0.424657534 ENSG00000181585 chr3:46709655-46709655;G/T missense_variant False TMIE@p.K127Q 1 0.392156863 ENSG00000181585 chr3:46709596-46709596;A/C missense_variant False TMF1@p.L468V 1 0.307692308 ENSG00000144747 chr3:69044541-69044541;G/C missense_variant False TMF1@p.I528M 1 0.183673469 ENSG00000144747 chr3:69042907-69042907;G/C missense_variant False TMF1@p.I268V 1 0.12745098 ENSG00000144747 chr3:69047903-69047903;T/C missense_variant False TMOD3@p.E187Q 1 0.536082474 ENSG00000138594 chr15:51893877-51893877;G/C missense_variant False TMOD3@p.K148N 1 0.166666667 ENSG00000138594 chr15:51889093-51889093;G/C missense_variant False TMOD4@p.M141I 1 0.114942529 ENSG00000163157 chr1:151172332-151172332;C/T missense_variant False TMOD4@p.Q36K 1 0.071428571 ENSG00000163157 chr1:151174770-151174770;G/T missense_variant False TMPO@p.D185H 1 0.470588235 ENSG00000120802 chr12:98531826-98531826;G/C missense_variant False TMPO@p.D449H 1 0.132075472 ENSG00000120802 chr12:98547838-98547838;G/C missense_variant False TMPO@p.E226K 1 0.358974359 ENSG00000120802 chr12:98532933-98532933;G/A missense_variant False TMPO@p.E343Q 1 0.348837209 ENSG00000120802 chr12:98533284-98533284;G/C missense_variant False TMPO@p.S159del 1 0.090909091 ENSG00000120802 chr12:98531745-98531747;TCT/- inframe_deletion False TMPO@p.S199C 1 0.044642857 ENSG00000120802 chr12:98532853-98532853;C/G missense_variant False TMPO@p.S399C 1 0.192982456 ENSG00000120802 chr12:98533453-98533453;C/G missense_variant False TMPPE@p.Q396H 1 0.29787234 ENSG00000188167 chr3:33093008-33093008;C/A missense_variant False TMPRSS11A@p.E265K 1 0.445255474 ENSG00000187054 chr4:67919141-67919141;C/T missense_variant False TMPRSS11A@p.S283F 1 0.123287671 ENSG00000187054 chr4:67919086-67919086;G/A missense_variant False TMPRSS11B@p.A66V 1 0.35 ENSG00000185873 chr4:68236194-68236194;G/A missense_variant False TMPRSS11B@p.Q48K 1 0.181818182 ENSG00000185873 chr4:68236249-68236249;G/T missense_variant False TMPRSS11B@p.S54F 1 0.2 ENSG00000185873 chr4:68236230-68236230;G/A missense_variant False TMEM63A@p.S625T 1 0.083333333 ENSG00000196187 chr1:225852693-225852693;C/G missense_variant False TMEM63A@p.A239T 1 0.307692308 ENSG00000196187 chr1:225865928-225865928;C/T missense_variant False TMEM62@p.S352C 1 0.466666667 ENSG00000137842 chr15:43154704-43154704;C/G missense_variant False TMEM204@p.C197_V202del 1 0.15625 ENSG00000131634 chr16:1554934-1554951;TGCATGGCCCCCCGGGTG/- inframe_deletion False TMEM211@p.F132L 1 0.063157895 None chr22:24935540-24935540;G/C missense_variant False TMEM209@p.R364Q 1 0.4 ENSG00000146842 chr7:130181652-130181652;C/T missense_variant False TMEM209@p.Q137H 1 0.145454545 ENSG00000146842 chr7:130202012-130202012;C/G missense_variant False TMEM209@p.D81H 1 0.350877193 ENSG00000146842 chr7:130202622-130202622;C/G missense_variant False TMEM209@p.D243H 1 0.185185185 ENSG00000146842 chr7:130192670-130192670;C/G missense_variant False TMEM207@p.F7L 1 0.461538462 ENSG00000198398 chr3:190449789-190449789;G/C missense_variant False TMEM203@p.D57Y 1 0.228571429 ENSG00000187713 chr9:137205246-137205246;C/A missense_variant False TMEM200C@p.L616V 1 0.163461538 ENSG00000206432 chr18:5890218-5890218;G/C missense_variant False TMEM202@p.R262T 1 0.161764706 ENSG00000187806 chr15:72407856-72407856;G/C missense_variant False TMEM202@p.Q51E 1 0.208333333 ENSG00000187806 chr15:72398722-72398722;C/G missense_variant False TMEM201@p.Q294H 1 0.149425287 ENSG00000188807 chr1:9601380-9601380;G/C missense_variant False TMEM201@p.A291S 1 0.271428571 ENSG00000188807 chr1:9601369-9601369;G/T missense_variant False TMEM200C@p.S145Y 1 0.128205128 ENSG00000206432 chr18:5891630-5891630;G/T missense_variant False TMEM200C@p.R559Q 1 0.290322581 ENSG00000206432 chr18:5890388-5890388;C/T missense_variant False TMEM214@p.M314I 1 0.277108434 ENSG00000119777 chr2:27037110-27037110;G/T missense_variant False TMEM215@p.E193Q 1 0.088607595 ENSG00000188133 chr9:32784760-32784760;G/C missense_variant False TMEM215@p.G34E 1 0.280898876 ENSG00000188133 chr9:32784284-32784284;G/A missense_variant False TMEM215@p.Q224H 1 0.114942529 ENSG00000188133 chr9:32784855-32784855;G/C missense_variant False TMEM215@p.S168L 1 0.333333333 ENSG00000188133 chr9:32784686-32784686;C/T missense_variant False TMEM215@p.V179I 1 0.175 ENSG00000188133 chr9:32784718-32784718;G/A missense_variant False TMEM219@p.E185K 1 0.183673469 ENSG00000149932 chr16:29968222-29968222;G/A missense_variant False TMEM220@p.W107R 1 0.528571429 ENSG00000187824 chr17:10723298-10723298;A/G missense_variant False TMEM222@p.D142N 1 0.175 ENSG00000186501 chr1:27334166-27334166;G/A missense_variant False TMEM225@p.L212V 1 0.146788991 ENSG00000204300 chr11:123883182-123883182;G/C missense_variant False TMEM225@p.V25M 1 0.16 ENSG00000204300 chr11:123885353-123885353;C/T missense_variant False TMEM236@p.D142N 1 0.180762852 ENSG00000148483 chr10:17776122-17776122;G/A missense_variant False TMEM236@p.D298H 1 0.411184211 ENSG00000148483 chr10:17796340-17796340;G/C missense_variant False TMEM236@p.P350S 1 0.285714286 ENSG00000148483 chr10:17796496-17796496;C/T missense_variant False TMEM236@p.R39M 1 0.141630901 ENSG00000148483 chr10:17752411-17752411;G/T missense_variant False TMEM237@p.G234A 1 0.545454545 ENSG00000155755 chr2:201629398-201629398;C/G missense_variant False TMEM241@p.E106Q 1 0.14893617 ENSG00000134490 chr18:23385031-23385031;C/G missense_variant False TMEM200C@p.P21S 1 0.114583333 ENSG00000206432 chr18:5892003-5892003;G/A missense_variant False TMEM200A@p.S466C 1 0.295081967 ENSG00000164484 chr6:130441819-130441819;C/G missense_variant False TMEM243@p.D86H 1 0.3 ENSG00000135185 chr7:87196737-87196737;C/G missense_variant False TMEM185A@p.D298N 1 0.444444444 ENSG00000269556 chrX:149598172-149598172;C/T missense_variant False TMEM190@p.S140F 1 0.274509804 ENSG00000160472 chr19:55378088-55378088;C/T missense_variant False TMEM190@p.G167S 1 0.492753623 ENSG00000160472 chr19:55378168-55378168;G/A missense_variant False TMEM18@p.L59I 1 0.081081081 ENSG00000151353 chr2:675513-675513;G/T missense_variant False TMEM187@p.R216W 1 0.44 ENSG00000177854 chrX:153982708-153982708;C/T missense_variant False TMEM187@p.L133V 1 0.555555556 ENSG00000177854 chrX:153982459-153982459;C/G missense_variant False TMEM187@p.E42K 1 0.50877193 ENSG00000177854 chrX:153982186-153982186;G/A missense_variant False TMEM184C@p.M219I 1 0.409090909 ENSG00000164168 chr4:147629683-147629683;G/A missense_variant False TMEM200A@p.S350F 1 0.327586207 ENSG00000164484 chr6:130441471-130441471;C/T missense_variant False TMEM184C@p.K415N 1 0.191780822 ENSG00000164168 chr4:147634362-147634362;G/C missense_variant False TMEM184C@p.E430Q 1 0.180327869 ENSG00000164168 chr4:147634405-147634405;G/C missense_variant False TMEM184B@p.F102del 1 0.287878788 ENSG00000198792 chr22:38245987-38245989;GAA/- inframe_deletion False TMEM184A@p.E247K 1 0.236686391 ENSG00000164855 chr7:1548594-1548594;C/T missense_variant False TMEM184A@p.A45Gfs*108 1 0.193548387 ENSG00000164855 chr7:1555351-1555352;-/C frameshift_variant False TMEM182@p.S103W 1 0.362831858 ENSG00000170417 chr2:102764404-102764404;C/G missense_variant False TMEM192@p.N218S 1 0.264705882 ENSG00000170088 chr4:165085610-165085610;T/C missense_variant False TMEM192@p.Q16R 1 0.590163934 ENSG00000170088 chr4:165103077-165103077;T/C missense_variant False TMEM196@p.E139Q 1 0.191489362 ENSG00000173452 chr7:19725558-19725558;C/G missense_variant False TMEM198@p.G107R 1 0.094594595 ENSG00000188760 chr2:219547658-219547658;G/A missense_variant False TMEM199@p.F153L 1 0.125 ENSG00000244045 chr17:28360775-28360775;C/G missense_variant False TMEM19@p.G140E 1 0.247933884 ENSG00000139291 chr12:71697316-71697316;G/A missense_variant False TMEM19@p.R11K 1 0.289473684 ENSG00000139291 chr12:71686712-71686712;G/A missense_variant False TMEM19@p.S40R 1 0.121212121 ENSG00000139291 chr12:71686800-71686800;C/A missense_variant False TMEM200A@p.E302D 1 0.146341463 ENSG00000164484 chr6:130441328-130441328;G/T missense_variant False TMEM200A@p.G190Efs*5 1 0.133333333 ENSG00000164484 chr6:130440989-130440989;G/- frameshift_variant False TMEM200A@p.K237E 1 0.163934426 ENSG00000164484 chr6:130441131-130441131;A/G missense_variant False TMEM200A@p.L147F 1 0.202702703 ENSG00000164484 chr6:130440861-130440861;C/T missense_variant False TMEM200A@p.L147V 1 0.052083333 ENSG00000164484 chr6:130440861-130440861;C/G missense_variant False TMEM200A@p.L173P 1 0.285714286 ENSG00000164484 chr6:130440940-130440940;T/C missense_variant False TMEM200A@p.Q381H 1 0.345454545 ENSG00000164484 chr6:130441565-130441565;G/T missense_variant False TMEM200A@p.R114H 1 0.472222222 ENSG00000164484 chr6:130440763-130440763;G/A missense_variant False TMEM200A@p.R204I 1 0.486111111 ENSG00000164484 chr6:130441033-130441033;G/T missense_variant False TMEM241@p.R92T 1 0.127659574 ENSG00000134490 chr18:23399570-23399570;C/G missense_variant False TMEM243@p.F63L 1 0.396551724 ENSG00000135185 chr7:87197988-87197988;A/G missense_variant False TMEM62@p.L607W 1 0.366013072 ENSG00000137842 chr15:43184474-43184474;T/G missense_variant False TMEM40@p.L110F 1 0.419811321 ENSG00000088726 chr3:12742479-12742479;C/G missense_variant False TMEM51@p.D96E 1 0.128205128 ENSG00000171729 chr1:15215375-15215375;C/A missense_variant False TMEM50A@p.E85K 1 0.245614035 ENSG00000183726 chr1:25351672-25351672;G/A missense_variant False TMEM50A@p.D81Y 1 0.5 ENSG00000183726 chr1:25351660-25351660;G/T missense_variant False TMEM45B@p.D143H 1 0.335051546 ENSG00000151715 chr11:129855749-129855749;G/C missense_variant False TMEM45A@p.S42Y 1 0.450549451 ENSG00000181458 chr3:100555336-100555336;C/A missense_variant False TMEM44@p.K127N 1 0.196078431 ENSG00000145014 chr3:194623673-194623673;C/G missense_variant False TMEM40@p.E113K 1 0.127659574 ENSG00000088726 chr3:12742472-12742472;C/T missense_variant False TMEM38A@p.E45K 1 0.425 ENSG00000072954 chr19:16679992-16679992;G/A missense_variant False TMEM39B@p.S292N 1 0.3 ENSG00000121775 chr1:32091959-32091959;G/A missense_variant False TMEM39B@p.D345N 1 0.192982456 ENSG00000121775 chr1:32094889-32094889;G/A missense_variant False TMEM39A@p.L199V 1 0.512820513 ENSG00000176142 chr3:119438084-119438084;G/C missense_variant False TMEM38B@p.S229F 1 0.247933884 ENSG00000095209 chr9:105773890-105773890;C/T missense_variant False TMEM38B@p.L67V 1 0.092307692 ENSG00000095209 chr9:105705683-105705683;C/G missense_variant False TMEM38B@p.L27V 1 0.310606061 ENSG00000095209 chr9:105694739-105694739;C/G missense_variant False TMEM51@p.E120K 1 0.302631579 ENSG00000171729 chr1:15219339-15219339;G/A missense_variant False TMEM51@p.K50N 1 0.185520362 ENSG00000171729 chr1:15215237-15215237;G/C missense_variant False TMEM52@p.S120F 1 0.480769231 ENSG00000178821 chr1:1918153-1918153;G/A missense_variant False TMEM52B@p.D78N 1 0.287234043 ENSG00000165685 chr12:10186514-10186514;G/A missense_variant False TMEM52B@p.P160Rfs*6 1 0.25 ENSG00000165685 chr12:10190067-10190106;CCCCAGTACCTGAAGAAAAGCAGCTGCCTCCAACAGAGAA/- frameshift_variant False TMEM53@p.F199L 1 0.175438596 ENSG00000126106 chr1:44654796-44654796;G/C missense_variant False TMEM53@p.V248M 1 0.454237288 ENSG00000126106 chr1:44654651-44654651;C/T missense_variant False TMEM59@p.D224N 1 0.14893617 ENSG00000116209 chr1:54040793-54040793;C/T missense_variant False TMEM59@p.L199F 1 0.051724138 ENSG00000116209 chr1:54041752-54041752;C/G missense_variant False TMEM59@p.M24I 1 0.11 ENSG00000116209 chr1:54053117-54053117;C/T missense_variant False TMEM60@p.D28N 1 0.189655172 ENSG00000135211 chr7:77794292-77794292;C/T missense_variant False TMEM61@p.E117D 1 0.666666667 ENSG00000143001 chr1:54986432-54986432;G/C missense_variant False TMEM61@p.V127A 1 0.40776699 ENSG00000143001 chr1:54991850-54991850;T/C missense_variant False TMEM62@p.D205N 1 0.12 ENSG00000137842 chr15:43146629-43146629;G/A missense_variant False TMEM62@p.G520E 1 0.227848101 ENSG00000137842 chr15:43181253-43181253;G/A missense_variant False TMEM62@p.H257R 1 0.258928571 ENSG00000137842 chr15:43149055-43149055;A/G missense_variant False TMEM62@p.L551S 1 0.431818182 ENSG00000137842 chr15:43184306-43184306;T/C missense_variant False TMEM38A@p.M148I 1 0.240384615 ENSG00000072954 chr19:16680559-16680559;G/A missense_variant False TMEM38A@p.E288K 1 0.319444444 ENSG00000072954 chr19:16688333-16688333;G/A missense_variant False TMEM243@p.Q54E 1 0.232323232 ENSG00000135185 chr7:87198015-87198015;G/C missense_variant False TMEM248@p.S264L 1 0.313043478 ENSG00000106609 chr7:66953236-66953236;C/T missense_variant False TMEM259@p.A225V 1 0.461538462 ENSG00000182087 chr19:1012507-1012507;G/A missense_variant False TMEM255B@p.L32V 1 0.139240506 ENSG00000184497 chr13:113766162-113766162;C/G missense_variant False TMEM255B@p.F315L 1 0.2 ENSG00000184497 chr13:113811865-113811865;T/C missense_variant False TMEM255B@p.E179D 1 0.107142857 ENSG00000184497 chr13:113801680-113801680;G/C missense_variant False TMEM255A@p.N56K 1 0.406015038 ENSG00000125355 chrX:120304382-120304382;A/C missense_variant False TMEM252@p.G136V 1 0.386363636 ENSG00000181778 chr9:68537365-68537365;C/A missense_variant False TMEM248@p.E105K 1 0.301587302 ENSG00000106609 chr7:66945129-66945129;G/A missense_variant False TMEM38A@p.E179Q 1 0.353658537 ENSG00000072954 chr19:16682489-16682489;G/C missense_variant False TMEM245@p.V406M 1 0.412698413 ENSG00000106771 chr9:109087277-109087277;C/T missense_variant False TMEM245@p.S799L 1 0.111111111 ENSG00000106771 chr9:109036209-109036209;G/A missense_variant False TMEM245@p.S579C 1 0.25 ENSG00000106771 chr9:109057309-109057309;G/C missense_variant False TMEM245@p.Q367H 1 0.789473684 ENSG00000106771 chr9:109090971-109090971;C/A missense_variant False TMEM245@p.N528S 1 0.244186047 ENSG00000106771 chr9:109064517-109064517;T/C missense_variant False TMEM245@p.F467S 1 0.474576271 ENSG00000106771 chr9:109080888-109080888;A/G missense_variant False TMEM260@p.F554L 1 0.633802817 ENSG00000070269 chr14:56633109-56633109;C/G missense_variant False TMEM260@p.I309Mfs*69 1 0.4375 ENSG00000070269 chr14:56616009-56616010;AT/- frameshift_variant False TMEM260@p.K534N 1 0.593220339 ENSG00000070269 chr14:56633049-56633049;G/T missense_variant False TMEM260@p.V322A 1 0.255319149 ENSG00000070269 chr14:56617206-56617206;T/C missense_variant False TMEM263@p.E10Q 1 0.297297297 ENSG00000151135 chr12:106967144-106967144;G/C missense_variant False TMEM266@p.G175R 1 0.5 ENSG00000169758 chr15:76171002-76171002;G/A missense_variant False TMEM266@p.H265Pfs*76 1 0.384615385 ENSG00000169758 chr15:76191985-76191986;GC/- frameshift_variant False TMEM266@p.P424S 1 0.417910448 ENSG00000169758 chr15:76203989-76203989;C/T missense_variant False TMEM266@p.T385S 1 0.169014085 ENSG00000169758 chr15:76203873-76203873;C/G missense_variant False TMEM267@p.E79K 1 0.12 ENSG00000151881 chr5:43453735-43453735;C/T missense_variant False TMEM267@p.L20V 1 0.127659574 ENSG00000151881 chr5:43453912-43453912;G/C missense_variant False TMEM268@p.D58N 1 0.666666667 ENSG00000157693 chr9:114624415-114624415;G/A missense_variant False TMEM26@p.E29K 1 0.476923077 ENSG00000196932 chr10:61452997-61452997;C/T missense_variant False TMEM26@p.Q284H 1 0.318181818 ENSG00000196932 chr10:61410577-61410577;C/G missense_variant False TMEM273@p.T81I 1 0.359375 ENSG00000204161 chr10:49165793-49165793;G/A missense_variant False TMEM33@p.E164K 1 0.294117647 ENSG00000109133 chr4:41944886-41944886;G/A missense_variant False TMEM37@p.T32M 1 0.073394495 ENSG00000171227 chr2:119436962-119436962;C/T missense_variant False TMPRSS4@p.R23H 1 0.184210526 ENSG00000137648 chr11:118099009-118099009;G/A missense_variant False TMPRSS6@p.D547N 1 0.15 ENSG00000187045 chr22:37070949-37070949;C/T missense_variant False TMEM181@p.Q288K 1 0.24137931 ENSG00000146433 chr6:158608398-158608398;C/A missense_variant False TNK1@p.K474N 1 1.0 ENSG00000174292 chr17:7387387-7387387;G/C missense_variant False TNKS1BP1@p.D1327H 1 0.351190476 ENSG00000149115 chr11:57308732-57308732;C/G missense_variant False TNKS1BP1@p.D1037H 1 0.305882353 ENSG00000149115 chr11:57309602-57309602;C/G missense_variant False TNK2@p.R473G 1 0.258064516 ENSG00000061938 chr3:195872310-195872310;G/C missense_variant False TNK2@p.K852N 1 0.52 ENSG00000061938 chr3:195867697-195867697;C/G missense_variant False TNK2@p.D644N 1 0.363636364 ENSG00000061938 chr3:195868323-195868323;C/T missense_variant False TNK1@p.R524Q 1 0.294117647 ENSG00000174292 chr17:7388484-7388484;G/A missense_variant False TNIP3@p.G7C 1 0.21875 ENSG00000050730 chr4:121164107-121164107;C/A missense_variant False TNKS1BP1@p.L97Ffs*34 1 0.162790698 ENSG00000149115 chr11:57320518-57320518;G/- frameshift_variant False TNIP3@p.F188L 1 0.262295082 ENSG00000050730 chr4:121150148-121150148;G/C missense_variant False TNIP2@p.Q404K 1 0.291666667 ENSG00000168884 chr4:2742337-2742337;G/T missense_variant False TNIP2@p.Q321E 1 0.369747899 ENSG00000168884 chr4:2744452-2744452;G/C missense_variant False TNIP2@p.E221K 1 0.203703704 ENSG00000168884 chr4:2744942-2744942;C/T missense_variant False TNIP2@p.A349T 1 0.258064516 ENSG00000168884 chr4:2742502-2742502;C/T missense_variant False TNIP2@p.A320D 1 0.295081967 ENSG00000168884 chr4:2744454-2744454;G/T missense_variant False TNKS1BP1@p.D880N 1 0.387254902 ENSG00000149115 chr11:57310073-57310073;C/T missense_variant False TNKS1BP1@p.M801I 1 0.092198582 ENSG00000149115 chr11:57310308-57310308;C/T missense_variant False TMPRSS6@p.E258Q 1 0.384615385 ENSG00000187045 chr22:37089642-37089642;C/G missense_variant False TNKS2@p.P804L 1 0.220588235 ENSG00000107854 chr10:91848435-91848435;C/T missense_variant False TNKS@p.D649N 1 0.373786408 ENSG00000173273 chr8:9726664-9726664;G/A missense_variant False TNKS@p.D1115H 1 0.185185185 ENSG00000173273 chr8:9763215-9763215;G/C missense_variant False TNKS2@p.S1106C 1 0.352201258 ENSG00000107854 chr10:91862034-91862034;C/G missense_variant False TNKS2@p.S100C 1 0.18 ENSG00000107854 chr10:91813082-91813082;C/G missense_variant False TNKS2@p.Q434E 1 0.19047619 ENSG00000107854 chr10:91833877-91833877;C/G missense_variant False TNKS2@p.Q362E 1 0.58 ENSG00000107854 chr10:91828386-91828386;C/G missense_variant False TNKS2@p.L245V 1 0.244047619 ENSG00000107854 chr10:91822300-91822300;C/G missense_variant False TNKS1BP1@p.P1359S 1 0.3125 ENSG00000149115 chr11:57308636-57308636;G/A missense_variant False TNKS2@p.L128V 1 0.197183099 ENSG00000107854 chr10:91813165-91813165;C/G missense_variant False TNKS2@p.G635E 1 0.186046512 ENSG00000107854 chr10:91842236-91842236;G/A missense_variant False TNKS2@p.A745G 1 0.109090909 ENSG00000107854 chr10:91845816-91845816;C/G missense_variant False TNKS1BP1@p.V424D 1 0.727272727 ENSG00000149115 chr11:57313417-57313417;A/T missense_variant False TNKS1BP1@p.S1229C 1 0.095238095 ENSG00000149115 chr11:57309025-57309025;G/C missense_variant False TNKS1BP1@p.P68S 1 0.230769231 ENSG00000149115 chr11:57320605-57320605;G/A missense_variant False TNIP1@p.S22F 1 0.214285714 ENSG00000145901 chr5:151065031-151065031;G/A missense_variant False TNIP1@p.Q610K 1 0.166666667 ENSG00000145901 chr5:151032335-151032335;G/T missense_variant False TNIP1@p.P100A 1 0.230769231 ENSG00000145901 chr5:151062186-151062186;G/C missense_variant False TNFSF12@p.S196L 1 0.418181818 ENSG00000239697 chr17:7557187-7557187;C/T missense_variant False TNFSF13B@p.S271L 1 0.285714286 ENSG00000102524 chr13:108306892-108306892;C/T missense_variant False TNFSF13B@p.P32S 1 0.153846154 ENSG00000102524 chr13:108269989-108269989;C/T missense_variant False TNFSF13B@p.D3H 1 0.385321101 ENSG00000102524 chr13:108269902-108269902;G/C missense_variant False TNFSF13B@p.C27W 1 0.04964539 ENSG00000102524 chr13:108269976-108269976;T/G missense_variant False TNFSF13@p.S5C 1 0.436363636 ENSG00000161955 chr17:7559053-7559053;C/G missense_variant False TNFSF13@p.P240S 1 0.411764706 ENSG00000161955 chr17:7560798-7560798;C/T missense_variant False TNFSF11@p.G286A 1 0.214285714 ENSG00000120659 chr13:42606821-42606821;G/C missense_variant False TNIP1@p.K373T 1 0.796296296 ENSG00000145901 chr5:151042556-151042556;T/G missense_variant False TNFSF10@p.L93F 1 0.627906977 ENSG00000121858 chr3:172511651-172511651;C/G missense_variant False TNFSF10@p.E249K 1 0.210526316 ENSG00000121858 chr3:172506593-172506593;C/T missense_variant False TNFRSF9@p.T207M 1 0.106382979 ENSG00000049249 chr1:7933221-7933221;G/A missense_variant False TNFRSF9@p.R215W 1 0.451219512 ENSG00000049249 chr1:7933198-7933198;G/A missense_variant False TNFRSF8@p.R47H 1 0.506024096 ENSG00000120949 chr1:12084540-12084540;G/A missense_variant False TNFRSF8@p.P132L 1 0.27027027 ENSG00000120949 chr1:12104505-12104505;C/T missense_variant False TNFSF13B@p.V28I 1 0.048951049 ENSG00000102524 chr13:108269977-108269977;G/A missense_variant False TNFSF14@p.S194F 1 0.32183908 ENSG00000125735 chr19:6665068-6665068;G/A missense_variant False TNFSF18@p.L181I 1 0.470588235 ENSG00000120337 chr1:173041426-173041426;G/T missense_variant False TNFSF18@p.S153Y 1 0.435897436 ENSG00000120337 chr1:173041509-173041509;G/T missense_variant False TNFSF8@p.F39V 1 0.071428571 ENSG00000106952 chr9:114930189-114930189;A/C missense_variant False TNFSF8@p.S83L 1 0.188172043 ENSG00000106952 chr9:114905890-114905890;G/A missense_variant False TNFSF8@p.V186I 1 0.209150327 ENSG00000106952 chr9:114904080-114904080;C/T missense_variant False TNFSF9@p.E191K 1 0.304347826 ENSG00000125657 chr19:6534872-6534872;G/A missense_variant False TNIK@p.D852G 1 0.402714932 ENSG00000154310 chr3:171101485-171101485;T/C missense_variant False TNIK@p.E69K 1 0.175675676 ENSG00000154310 chr3:171211217-171211217;C/T missense_variant False TNIK@p.G753E 1 0.538461538 ENSG00000154310 chr3:171110740-171110740;C/T missense_variant False TNIK@p.R1204K 1 0.138888889 ENSG00000154310 chr3:171068936-171068936;C/T missense_variant False TNIK@p.R437K 1 0.32183908 ENSG00000154310 chr3:171140421-171140421;C/T missense_variant False TNIK@p.R685T 1 0.227272727 ENSG00000154310 chr3:171123662-171123662;C/G missense_variant False TNIK@p.S1225F 1 0.180327869 ENSG00000154310 chr3:171068873-171068873;G/A missense_variant False TNIK@p.S898L 1 0.43902439 ENSG00000154310 chr3:171093867-171093867;G/A missense_variant False TNIP1@p.E332K 1 0.383495146 ENSG00000145901 chr5:151042904-151042904;C/T missense_variant False TNKS@p.H1246Y 1 0.564102564 ENSG00000173273 chr8:9766421-9766421;C/T missense_variant False TNKS@p.I1080M 1 0.117647059 ENSG00000173273 chr8:9761602-9761602;C/G missense_variant False TNKS@p.Q17del 1 0.2 ENSG00000173273 chr8:9555982-9555984;CAA/- inframe_deletion False TNPO1@p.E365K 1 0.142857143 ENSG00000083312 chr5:72883175-72883175;G/A missense_variant False TNPO2@p.D224N 1 0.433962264 ENSG00000105576 chr19:12715148-12715148;C/T missense_variant False TNPO1@p.Y612_P615del 1 0.37593985 ENSG00000083312 chr5:72893181-72893192;CCGTACTGTGAA/- inframe_deletion False TNPO1@p.Q89H 1 0.2 ENSG00000083312 chr5:72855835-72855835;G/C missense_variant False TNPO1@p.M649I 1 0.15625 ENSG00000083312 chr5:72893427-72893427;G/A missense_variant False TNPO1@p.G608R 1 0.247747748 ENSG00000083312 chr5:72893172-72893172;G/A missense_variant False TNPO1@p.E750Q 1 0.34 ENSG00000083312 chr5:72897061-72897061;G/C missense_variant False TNPO1@p.E10A 1 0.791666667 ENSG00000083312 chr5:72848398-72848398;A/C missense_variant False TNNT1@p.R107Q 1 0.093023256 ENSG00000105048 chr19:55140950-55140950;C/T missense_variant False TNPO1@p.D855H 1 0.540229885 ENSG00000083312 chr5:72903757-72903757;G/C missense_variant False TNP2@p.S88T 1 0.585714286 ENSG00000178279 chr16:11269001-11269001;A/T missense_variant False TNP2@p.R81C 1 0.223684211 ENSG00000178279 chr16:11269022-11269022;G/A missense_variant False TNP1@p.R5L 1 0.474576271 ENSG00000118245 chr2:216860021-216860021;C/A missense_variant False TNNT3@p.E184K 1 0.47826087 ENSG00000130595 chr11:1934582-1934582;G/A missense_variant False TNNT2@p.R168P 1 0.145833333 ENSG00000118194 chr1:201363393-201363393;C/G missense_variant False TNPO2@p.F525L 1 0.234042553 ENSG00000105576 chr19:12706289-12706289;A/T missense_variant False TNPO2@p.K476R 1 0.083333333 ENSG00000105576 chr19:12706639-12706639;T/C missense_variant False TNPO2@p.Q79E 1 0.166666667 ENSG00000105576 chr19:12719119-12719119;G/C missense_variant False TNPO3@p.D814H 1 0.157894737 ENSG00000064419 chr7:128970306-128970306;C/G missense_variant False TNPO3@p.D897N 1 0.24742268 ENSG00000064419 chr7:128967302-128967302;C/T missense_variant False TNPO3@p.E340Q 1 0.282051282 ENSG00000064419 chr7:128997529-128997529;C/G missense_variant False TNPO3@p.E816K 1 0.153191489 ENSG00000064419 chr7:128970300-128970300;C/T missense_variant False TNPO3@p.L307F 1 0.166666667 ENSG00000064419 chr7:129000521-129000521;G/A missense_variant False TNPO3@p.M67I 1 0.25 ENSG00000064419 chr7:129018077-129018077;C/T missense_variant False TNPO3@p.Q734E 1 0.291139241 ENSG00000064419 chr7:128974941-128974941;G/C missense_variant False TNPO3@p.R494Q 1 0.456140351 ENSG00000064419 chr7:128989978-128989978;C/T missense_variant False TNPO3@p.S238L 1 0.102362205 ENSG00000064419 chr7:129001218-129001218;G/A missense_variant False TNPO3@p.T106M 1 0.277777778 ENSG00000064419 chr7:129017961-129017961;G/A missense_variant False TNR@p.D238N 1 0.080097087 ENSG00000116147 chr1:175403404-175403404;C/T missense_variant False TNR@p.E142Q 1 0.206185567 ENSG00000116147 chr1:175406291-175406291;C/G missense_variant False TNR@p.E571K 1 0.057142857 ENSG00000116147 chr1:175386098-175386098;C/T missense_variant False TNR@p.E940K 1 0.14 ENSG00000116147 chr1:175362699-175362699;C/T missense_variant False TNNT1@p.V61I 1 0.586363636 ENSG00000105048 chr19:55141868-55141868;C/T missense_variant False TNNT1@p.K151N 1 0.491803279 ENSG00000105048 chr19:55138009-55138009;C/G missense_variant False TNKS@p.R608G 1 0.111111111 ENSG00000173273 chr8:9720446-9720446;C/G missense_variant False TNN@p.L115Q 1 0.388888889 ENSG00000120332 chr1:175077762-175077762;T/A missense_variant False TNN@p.Q986P 1 0.197183099 ENSG00000120332 chr1:175126997-175126997;A/C missense_variant False TNN@p.P819L 1 0.443298969 ENSG00000120332 chr1:175118630-175118630;C/T missense_variant False TNN@p.N871K 1 0.058139535 ENSG00000120332 chr1:175118787-175118787;C/A missense_variant False TNN@p.M426I 1 0.512195122 ENSG00000120332 chr1:175085448-175085448;G/T missense_variant False TNN@p.L855M 1 0.184615385 ENSG00000120332 chr1:175118737-175118737;C/A missense_variant False TNN@p.L383Q 1 0.069767442 ENSG00000120332 chr1:175083849-175083849;T/A missense_variant False TNN@p.G988V 1 0.405797101 ENSG00000120332 chr1:175127003-175127003;G/T missense_variant False TNNT1@p.I82M 1 0.150537634 ENSG00000105048 chr19:55141249-55141249;G/C missense_variant False TNN@p.E544Q 1 0.454545455 ENSG00000120332 chr1:175097458-175097458;G/C missense_variant False TNN@p.D621H 1 0.470899471 ENSG00000120332 chr1:175098337-175098337;G/C missense_variant False TNN@p.A789V 1 0.527777778 ENSG00000120332 chr1:175117185-175117185;C/T missense_variant False TNMD@p.R270P 1 0.464285714 ENSG00000000005 chrX:100599572-100599572;G/C missense_variant False TNKS@p.S139L 1 0.3625 ENSG00000173273 chr8:9556355-9556355;C/T missense_variant False TNKS@p.S111L 1 0.5375 ENSG00000173273 chr8:9556271-9556271;C/T missense_variant False TNN@p.R918H 1 0.329113924 ENSG00000120332 chr1:175123502-175123502;G/A missense_variant False TNN@p.S66I 1 0.185185185 ENSG00000120332 chr1:175077615-175077615;G/T missense_variant False TNN@p.S833C 1 0.75879397 ENSG00000120332 chr1:175118672-175118672;C/G missense_variant False TNN@p.V511L 1 0.214285714 ENSG00000120332 chr1:175094196-175094196;G/T missense_variant False TNNC1@p.E94Q 1 0.278350515 ENSG00000114854 chr3:52451781-52451781;C/G missense_variant False TNNC2@p.F103L 1 0.208333333 ENSG00000101470 chr20:45824297-45824297;G/C missense_variant False TNNI1@p.D103E 1 0.5 ENSG00000159173 chr1:201411504-201411504;G/T missense_variant False TNNI1@p.E35K 1 0.112903226 ENSG00000159173 chr1:201414604-201414604;C/T missense_variant False TNNI1@p.R125W 1 0.447368421 ENSG00000159173 chr1:201411440-201411440;G/A missense_variant False TNNI1@p.R67W 1 0.256603774 ENSG00000159173 chr1:201413112-201413112;G/A missense_variant False TNNI1@p.S130F 1 0.288461538 ENSG00000159173 chr1:201411424-201411424;G/A missense_variant False TNNI2@p.E60K 1 0.11627907 ENSG00000130598 chr11:1840648-1840648;G/A missense_variant False TNNI2@p.G2A 1 0.4 ENSG00000130598 chr11:1839701-1839701;G/C missense_variant False TNNI3K@p.H823D 1 0.272727273 ENSG00000116783 chr1:74543941-74543941;C/G missense_variant False TNNI3K@p.R700Q 1 0.52 ENSG00000116783 chr1:74463528-74463528;G/A missense_variant False TNNT1@p.E139K 1 0.347826087 ENSG00000105048 chr19:55138047-55138047;C/T missense_variant False TNNT1@p.E57Q 1 0.141447368 ENSG00000105048 chr19:55141880-55141880;C/G missense_variant False TNFRSF8@p.K95N 1 0.164948454 ENSG00000120949 chr1:12104395-12104395;G/C missense_variant False TNFRSF8@p.I305M 1 0.126582278 ENSG00000120949 chr1:12115698-12115698;C/G missense_variant False TNFRSF8@p.E553Q 1 0.277777778 ENSG00000120949 chr1:12142400-12142400;G/C missense_variant False TMX2@p.K237N 1 0.130434783 ENSG00000213593 chr11:57739227-57739227;G/C missense_variant False TMX3@p.V23I 1 0.2 ENSG00000166479 chr18:68713880-68713880;C/T missense_variant False TMX3@p.D41N 1 0.088235294 ENSG00000166479 chr18:68711384-68711384;C/T missense_variant False TMX3@p.D402N 1 0.277777778 ENSG00000166479 chr18:68677094-68677094;C/T missense_variant False TMX2@p.S13L 1 0.264150943 ENSG00000213593 chr11:57712656-57712656;C/T missense_variant False TMX2@p.M77I 1 0.288461538 ENSG00000213593 chr11:57737649-57737649;G/A missense_variant False TMX2@p.L104V 1 0.807692308 ENSG00000213593 chr11:57737972-57737972;C/G missense_variant False TMUB2@p.V315L 1 0.104166667 ENSG00000168591 chr17:44190841-44190841;G/T missense_variant False TMTC4@p.A217T 1 0.483253589 ENSG00000125247 chr13:100642246-100642246;C/T missense_variant False TMUB1@p.R77K 1 0.267973856 ENSG00000164897 chr7:151082334-151082334;C/T missense_variant False TMUB1@p.M62I 1 0.138728324 ENSG00000164897 chr7:151082378-151082378;C/A missense_variant False TMTC4@p.V105L 1 0.447619048 ENSG00000125247 chr13:100663146-100663146;C/A missense_variant False TMTC4@p.R731K 1 0.121212121 ENSG00000125247 chr13:100605028-100605028;C/T missense_variant False TMTC4@p.R592C 1 0.360465116 ENSG00000125247 chr13:100625540-100625540;G/A missense_variant False TMTC4@p.M519I 1 0.223684211 ENSG00000125247 chr13:100625865-100625865;C/G missense_variant False TMX4@p.D258H 1 0.339285714 ENSG00000125827 chr20:7982529-7982529;C/G missense_variant False TMX4@p.E212Q 1 0.206896552 ENSG00000125827 chr20:7983839-7983839;C/G missense_variant False TMX4@p.E246K 1 0.444444444 ENSG00000125827 chr20:7982565-7982565;C/T missense_variant False TMX4@p.E323K 1 0.144444444 ENSG00000125827 chr20:7982334-7982334;C/T missense_variant False TMX4@p.G320C 1 0.144144144 ENSG00000125827 chr20:7982343-7982343;C/A missense_variant False TMX4@p.Q141E 1 0.253333333 ENSG00000125827 chr20:7999778-7999778;G/C missense_variant False TMX4@p.Q228L 1 0.311827957 ENSG00000125827 chr20:7982618-7982618;T/A missense_variant False TNC@p.A1180V 1 0.220720721 ENSG00000041982 chr9:115064017-115064017;G/A missense_variant False TNC@p.D753H 1 0.166666667 ENSG00000041982 chr9:115081919-115081919;C/G missense_variant False TNC@p.E829K 1 0.777777778 ENSG00000041982 chr9:115078132-115078132;C/T missense_variant False TNC@p.E855K 1 0.448979592 ENSG00000041982 chr9:115078054-115078054;C/T missense_variant False TNC@p.G1237E 1 0.111111111 ENSG00000041982 chr9:115063846-115063846;C/T missense_variant False TNC@p.G143E 1 0.534883721 ENSG00000041982 chr9:115090591-115090591;C/T missense_variant False TNC@p.G1991E 1 0.408 ENSG00000041982 chr9:115030354-115030354;C/T missense_variant False TNC@p.K1837E 1 0.463917526 ENSG00000041982 chr9:115038264-115038264;T/C missense_variant False TNC@p.R1033I 1 0.463414634 ENSG00000041982 chr9:115073719-115073719;C/A missense_variant False TNC@p.R1033S 1 0.16 ENSG00000041982 chr9:115073718-115073718;T/A missense_variant False TMTC4@p.E710K 1 0.04516129 ENSG00000125247 chr13:100605092-100605092;C/T missense_variant False TMTC4@p.A200V 1 0.424 ENSG00000125247 chr13:100642296-100642296;G/A missense_variant False TNC@p.R541S 1 0.333333333 ENSG00000041982 chr9:115086110-115086110;G/T missense_variant False TMPRSS9@p.A320V 1 0.308056872 ENSG00000178297 chr19:2408472-2408472;C/T missense_variant False TMSB4Y@p.D14Rfs*2 1 0.625 ENSG00000154620 chrY:13704371-13704372;-/T frameshift_variant False TMPRSS9@p.S399L 1 0.19047619 ENSG00000178297 chr19:2410336-2410336;C/T missense_variant False TMPRSS9@p.R255Q 1 0.313432836 ENSG00000178297 chr19:2405467-2405467;G/A missense_variant False TMPRSS9@p.R1055W 1 0.202531646 ENSG00000178297 chr19:2425969-2425969;C/T missense_variant False TMPRSS9@p.L630V 1 0.088235294 ENSG00000178297 chr19:2416680-2416680;C/G missense_variant False TMPRSS9@p.D326H 1 0.39047619 ENSG00000178297 chr19:2408489-2408489;G/C missense_variant False TMPRSS7@p.Y630H 1 0.1104 ENSG00000176040 chr3:112075425-112075425;T/C missense_variant False TMTC3@p.Y519Ifs*8 1 0.198019802 ENSG00000139324 chr12:88190464-88190465;-/A frameshift_variant False TMPRSS7@p.R354W 1 0.221311475 ENSG00000176040 chr3:112049944-112049944;C/T missense_variant False TMPRSS7@p.H604D 1 0.16374269 ENSG00000176040 chr3:112075347-112075347;C/G missense_variant False TMPRSS7@p.E366K 1 0.127272727 ENSG00000176040 chr3:112050676-112050676;G/A missense_variant False TMPRSS6@p.V161L 1 0.47826087 ENSG00000187045 chr22:37096014-37096014;C/A missense_variant False TMPRSS6@p.E72K 1 0.279569892 ENSG00000187045 chr22:37098538-37098538;C/T missense_variant False TMPRSS6@p.E652Q 1 0.125 ENSG00000187045 chr22:37069232-37069232;C/G missense_variant False TMTC1@p.I349T 1 0.257142857 ENSG00000133687 chr12:29633229-29633229;A/G missense_variant False TMTC2@p.E724Q 1 0.157894737 ENSG00000179104 chr12:83050921-83050921;G/C missense_variant False TMTC2@p.F316L 1 0.25 ENSG00000179104 chr12:82896111-82896111;C/G missense_variant False TMTC2@p.I228M 1 0.052631579 ENSG00000179104 chr12:82895847-82895847;T/G missense_variant False TMTC2@p.I31M 1 0.481481481 ENSG00000179104 chr12:82857019-82857019;C/G missense_variant False TMTC2@p.I402M 1 0.3203125 ENSG00000179104 chr12:82896369-82896369;C/G missense_variant False TMTC2@p.S371F 1 0.131868132 ENSG00000179104 chr12:82896275-82896275;C/T missense_variant False TMTC2@p.S603I 1 0.704545455 ENSG00000179104 chr12:82965683-82965683;G/T missense_variant False TMTC2@p.T390M 1 0.136094675 ENSG00000179104 chr12:82896332-82896332;C/T missense_variant False TMTC2@p.V395F 1 0.903225806 ENSG00000179104 chr12:82896346-82896346;G/T missense_variant False TMTC2@p.Y521H 1 0.404255319 ENSG00000179104 chr12:82930508-82930508;T/C missense_variant False TMTC3@p.D786N 1 0.202531646 ENSG00000139324 chr12:88195260-88195260;G/A missense_variant False TMTC3@p.E463Q 1 0.106382979 ENSG00000139324 chr12:88176274-88176274;G/C missense_variant False TMTC3@p.E547Q 1 0.337209302 ENSG00000139324 chr12:88190555-88190555;G/C missense_variant False TMTC3@p.L261I 1 0.373737374 ENSG00000139324 chr12:88160835-88160835;C/A missense_variant False TMTC3@p.R339T 1 0.069444444 ENSG00000139324 chr12:88166548-88166548;G/C missense_variant False TMTC3@p.R522K 1 0.14893617 ENSG00000139324 chr12:88190481-88190481;G/A missense_variant False TNC@p.R446W 1 0.432926829 ENSG00000041982 chr9:115086395-115086395;G/A missense_variant False TNC@p.R747W 1 0.277777778 ENSG00000041982 chr9:115082700-115082700;G/A missense_variant False TNFRSF8@p.E343Q 1 0.285714286 ENSG00000120949 chr1:12123364-12123364;G/C missense_variant False TNFRSF11B@p.E33K 1 0.256410256 ENSG00000164761 chr8:118933234-118933234;C/T missense_variant False TNFRSF17@p.P147L 1 0.126666667 ENSG00000048462 chr16:11967732-11967732;C/T missense_variant False TNFRSF17@p.E12Q 1 0.15503876 ENSG00000048462 chr16:11965358-11965358;G/C missense_variant False TNFRSF13C@p.R109C 1 0.648648649 ENSG00000159958 chr22:41926143-41926143;G/A missense_variant False TNFRSF13C@p.G136E 1 0.292134831 ENSG00000159958 chr22:41925515-41925515;C/T missense_variant False TNFRSF13C@p.D120N 1 0.333333333 ENSG00000159958 chr22:41926110-41926110;C/T missense_variant False TNFRSF13B@p.G94E 1 0.445544554 ENSG00000240505 chr17:16948902-16948902;C/T missense_variant False TNFRSF11B@p.E238Q 1 0.397849462 ENSG00000164761 chr8:118926599-118926599;C/G missense_variant False TNFRSF10C@p.A78V 1 0.4375 ENSG00000173535 chr8:23114723-23114723;C/T missense_variant False TNFRSF11A@p.Q29H 1 0.157894737 ENSG00000141655 chr18:62348179-62348179;G/C missense_variant False TNFRSF10D@p.R89T 1 0.130952381 ENSG00000173530 chr8:23148542-23148542;C/G missense_variant False TNFRSF10D@p.R156Q 1 0.153846154 ENSG00000173530 chr8:23146976-23146976;C/T missense_variant False TNFRSF10D@p.G242C 1 0.523809524 ENSG00000173530 chr8:23145680-23145680;C/A missense_variant False TNFRSF10D@p.E313K 1 0.088888889 ENSG00000173530 chr8:23144467-23144467;C/T missense_variant False TNFRSF10C@p.Q36Pfs*24 1 0.227272727 ENSG00000173535 chr8:23111761-23111762;-/C frameshift_variant False TNFRSF19@p.D354N 1 0.945205479 ENSG00000127863 chr13:23668912-23668912;G/A missense_variant False TNFRSF19@p.E342Q 1 0.277777778 ENSG00000127863 chr13:23668876-23668876;G/C missense_variant False TNFRSF1A@p.L174V 1 0.093023256 ENSG00000067182 chr12:6333100-6333100;G/C missense_variant False TNFRSF1A@p.S241C 1 0.136363636 ENSG00000067182 chr12:6330615-6330615;G/C missense_variant False TNFRSF1B@p.G146C 1 0.914285714 ENSG00000028137 chr1:12191902-12191902;G/T missense_variant False TNFRSF1B@p.P91S 1 0.248175182 ENSG00000028137 chr1:12191049-12191049;C/T missense_variant False TNFRSF1B@p.R141H 1 0.530120482 ENSG00000028137 chr1:12191888-12191888;G/A missense_variant False TNFRSF21@p.E104Q 1 0.278787879 ENSG00000146072 chr6:47286382-47286382;C/G missense_variant False TNFRSF21@p.E617K 1 0.357142857 ENSG00000146072 chr6:47232884-47232884;C/T missense_variant False TNFRSF21@p.E630Q 1 0.387978142 ENSG00000146072 chr6:47232845-47232845;C/G missense_variant False TNFRSF21@p.H305Q 1 0.204 ENSG00000146072 chr6:47284266-47284266;G/T missense_variant False TNFRSF21@p.Q42K 1 0.208955224 ENSG00000146072 chr6:47286568-47286568;G/T missense_variant False TNFRSF21@p.R487T 1 0.2 ENSG00000146072 chr6:47253305-47253305;C/G missense_variant False TNFRSF25@p.R157C 1 0.631578947 ENSG00000215788 chr1:6464448-6464448;G/A missense_variant False TNFRSF25@p.R32Qfs*3 1 0.170212766 ENSG00000215788 chr1:6465506-6465507;-/G frameshift_variant False TNFRSF25@p.R345Q 1 0.176470588 ENSG00000215788 chr1:6461654-6461654;C/T missense_variant False TNFRSF4@p.D249N 1 0.333333333 ENSG00000186827 chr1:1211722-1211722;C/T missense_variant False TNFRSF10C@p.E71K 1 0.305084746 ENSG00000173535 chr8:23114701-23114701;G/A missense_variant False TNFRSF10B@p.R395Q 1 0.458333333 ENSG00000120889 chr8:23022810-23022810;C/T missense_variant False TNC@p.S931F 1 0.261410788 ENSG00000041982 chr9:115076458-115076458;G/A missense_variant False TNFAIP3@p.E297K 1 0.369863014 ENSG00000118503 chr6:137877159-137877159;G/A missense_variant True TNFAIP6@p.Q16K 1 0.176470588 ENSG00000123610 chr2:151357712-151357712;C/A missense_variant False TNFAIP6@p.F180Y 1 0.421052632 ENSG00000123610 chr2:151370164-151370164;T/A missense_variant False TNFAIP6@p.D248H 1 0.25 ENSG00000123610 chr2:151379441-151379441;G/C missense_variant False TNFAIP6@p.D179Y 1 0.355263158 ENSG00000123610 chr2:151370160-151370160;G/T missense_variant False TNFAIP3@p.Q593E 1 0.179487179 ENSG00000118503 chr6:137879222-137879222;C/G missense_variant True TNFAIP3@p.L12F 1 0.382352941 ENSG00000118503 chr6:137871263-137871263;G/C missense_variant True TNFAIP3@p.E154Q 1 0.327272727 ENSG00000118503 chr6:137875009-137875009;G/C missense_variant True TNFRSF10B@p.G21V 1 0.444444444 ENSG00000120889 chr8:23068833-23068833;C/A missense_variant False TNFAIP3@p.E145Q 1 0.387931034 ENSG00000118503 chr6:137874982-137874982;G/C missense_variant True TNFAIP3@p.D285N 1 0.089552239 ENSG00000118503 chr6:137877123-137877123;G/A missense_variant True TNFAIP3@p.D160N 1 0.208791209 ENSG00000118503 chr6:137875027-137875027;G/A missense_variant True TNFAIP1@p.R192C 1 0.169811321 ENSG00000109079 chr17:28342302-28342302;C/T missense_variant False TNFAIP1@p.E107K 1 0.686567164 ENSG00000109079 chr17:28340422-28340422;G/A missense_variant False TNF@p.R82Q 1 0.414285714 ENSG00000232810 chr6:31576779-31576779;G/A missense_variant False TNFAIP6@p.R119K 1 0.066666667 ENSG00000123610 chr2:151366179-151366179;G/A missense_variant False TNFAIP6@p.Y94S 1 0.057377049 ENSG00000123610 chr2:151366104-151366104;A/C missense_variant False TNFAIP8@p.S163L 1 0.053333333 ENSG00000145779 chr5:119393272-119393272;C/T missense_variant False TNFAIP8L2@p.L128V 1 0.166666667 ENSG00000163154 chr1:151159079-151159079;C/G missense_variant False TNFAIP8L2@p.S82N 1 0.254901961 ENSG00000163154 chr1:151158942-151158942;G/A missense_variant False TNFAIP8L3@p.D108H 1 0.238095238 ENSG00000183578 chr15:51058438-51058438;C/G missense_variant False TNFAIP8L3@p.D258N 1 0.247706422 ENSG00000183578 chr15:51057988-51057988;C/T missense_variant False TNFAIP8L3@p.I45N 1 0.171875 ENSG00000183578 chr15:51105043-51105043;A/T missense_variant False TNFAIP8L3@p.L51P 1 0.185714286 ENSG00000183578 chr15:51105025-51105025;A/G missense_variant False TNFRSF10A@p.D220Y 1 0.142857143 ENSG00000104689 chr8:23200732-23200732;C/A missense_variant False TNFRSF10A@p.D378N 1 0.217948718 ENSG00000104689 chr8:23191969-23191969;C/T missense_variant False TNFRSF10A@p.E292K 1 0.407407407 ENSG00000104689 chr8:23199406-23199406;C/T missense_variant False TNFRSF10A@p.E298D 1 0.873563218 ENSG00000104689 chr8:23199386-23199386;C/G missense_variant False TNFRSF10A@p.E393K 1 0.480769231 ENSG00000104689 chr8:23191924-23191924;C/T missense_variant False TNFRSF10A@p.E437D 1 0.325 ENSG00000104689 chr8:23191790-23191790;C/G missense_variant False TNFRSF10B@p.E151K 1 0.119047619 ENSG00000120889 chr8:23029635-23029635;C/T missense_variant False TNFRSF10B@p.E407K 1 0.103092784 ENSG00000120889 chr8:23022775-23022775;C/T missense_variant False TMEM181@p.Q84H 1 0.339181287 ENSG00000146433 chr6:158580956-158580956;G/C missense_variant False TMEM181@p.E495K 1 0.6 ENSG00000146433 chr6:158631820-158631820;G/A missense_variant False TIGD4@p.D455G 1 0.256410256 ENSG00000169989 chr4:152769641-152769641;T/C missense_variant False TLN1@p.K284R 1 0.26 ENSG00000137076 chr9:35722216-35722216;T/C missense_variant False TLN2@p.E2139K 1 0.263157895 ENSG00000171914 chr15:62800707-62800707;G/A missense_variant False TLN2@p.E1678K 1 0.4 ENSG00000171914 chr15:62763633-62763633;G/A missense_variant False TLN2@p.E1170Q 1 0.229508197 ENSG00000171914 chr15:62737027-62737027;G/C missense_variant False TLN2@p.D1228G 1 0.208333333 ENSG00000171914 chr15:62738329-62738329;A/G missense_variant False TLN1@p.S696L 1 0.145299145 ENSG00000137076 chr9:35717695-35717695;G/A missense_variant False TLN1@p.R1122Q 1 0.4 ENSG00000137076 chr9:35713031-35713031;C/T missense_variant False TLN1@p.G48E 1 0.25 ENSG00000137076 chr9:35725309-35725309;C/T missense_variant False TLN2@p.E40K 1 0.18487395 ENSG00000171914 chr15:62647428-62647428;G/A missense_variant False TLN1@p.E845K 1 0.057324841 ENSG00000137076 chr9:35716482-35716482;C/T missense_variant False TLN1@p.E2369Q 1 0.347826087 ENSG00000137076 chr9:35698828-35698828;C/G missense_variant False TLN1@p.E1847Q 1 0.238095238 ENSG00000137076 chr9:35705824-35705824;C/G missense_variant False TLN1@p.E1608K 1 0.357723577 ENSG00000137076 chr9:35707205-35707205;C/T missense_variant False TLN1@p.E1421K 1 0.088235294 ENSG00000137076 chr9:35710626-35710626;C/T missense_variant False TLN1@p.E1061Q 1 0.68 ENSG00000137076 chr9:35714021-35714021;C/G missense_variant False TLN2@p.E387K 1 0.275862069 ENSG00000171914 chr15:62692885-62692885;G/A missense_variant False TLN2@p.E665K 1 0.428571429 ENSG00000171914 chr15:62702853-62702853;G/A missense_variant False TM7SF3@p.F310L 1 0.142857143 ENSG00000064115 chr12:26982798-26982798;G/C missense_variant False TLR10@p.D760N 1 0.292682927 ENSG00000174123 chr4:38773313-38773313;C/T missense_variant False TLR10@p.N335H 1 0.511111111 ENSG00000174123 chr4:38774588-38774588;T/G missense_variant False TLR10@p.L237V 1 0.363636364 ENSG00000174123 chr4:38774882-38774882;G/C missense_variant False TLR10@p.I378N 1 0.396825397 ENSG00000174123 chr4:38774458-38774458;A/T missense_variant False TLR10@p.E571K 1 0.127272727 ENSG00000174123 chr4:38773880-38773880;C/T missense_variant False TLR10@p.E541Q 1 0.243902439 ENSG00000174123 chr4:38773970-38773970;C/G missense_variant False TLR10@p.E272Q 1 0.215384615 ENSG00000174123 chr4:38774777-38774777;C/G missense_variant False TLR10@p.A44T 1 0.297297297 ENSG00000174123 chr4:38775461-38775461;C/T missense_variant False TLN2@p.Q1300H 1 0.153284672 ENSG00000171914 chr15:62740644-62740644;G/C missense_variant False TLNRD1@p.S90C 1 0.1 ENSG00000140406 chr15:81002540-81002540;C/G missense_variant False TLN2@p.V561G 1 0.098039216 ENSG00000171914 chr15:62701200-62701200;T/G missense_variant False TLN2@p.R11C 1 0.24 ENSG00000171914 chr15:62647341-62647341;C/T missense_variant False TLN2@p.Q90E 1 0.212765957 ENSG00000171914 chr15:62652038-62652038;C/G missense_variant False TLN2@p.Q407Lfs*10 1 0.1875 ENSG00000171914 chr15:62694320-62694325;AAAGTA/TACT frameshift_variant False TLN2@p.Q2199R 1 0.244897959 ENSG00000171914 chr15:62805718-62805718;A/G missense_variant False TLN1@p.D818N 1 0.103896104 ENSG00000137076 chr9:35717152-35717152;C/T missense_variant False TLN1@p.D422G 1 0.490196078 ENSG00000137076 chr9:35720451-35720451;T/C missense_variant False TLN1@p.D233H 1 0.078616352 ENSG00000137076 chr9:35724037-35724037;C/G missense_variant False TLK2@p.E520Q 1 0.252873563 ENSG00000146872 chr17:62596616-62596616;G/C missense_variant False TLK2@p.Q37H 1 0.300578035 ENSG00000146872 chr17:62520802-62520802;G/C missense_variant False TLK2@p.Q360H 1 0.25 ENSG00000146872 chr17:62573326-62573326;G/C missense_variant False TLK2@p.L465V 1 0.592592593 ENSG00000146872 chr17:62580151-62580151;T/G missense_variant False TLK2@p.K504R 1 0.118644068 ENSG00000146872 chr17:62586211-62586211;A/G missense_variant False TLK2@p.K199R 1 0.125 ENSG00000146872 chr17:62552366-62552366;A/G missense_variant False TLK2@p.E701K 1 0.275 ENSG00000146872 chr17:62608104-62608104;G/A missense_variant False TLK2@p.E420K 1 0.106382979 ENSG00000146872 chr17:62578480-62578480;G/A missense_variant False TLN1@p.D2200N 1 0.432098765 ENSG00000137076 chr9:35700253-35700253;C/T missense_variant False TLK2@p.E373K 1 0.153846154 ENSG00000146872 chr17:62573363-62573363;G/A missense_variant False TLK2@p.E162Q 1 0.3 ENSG00000146872 chr17:62536290-62536290;G/C missense_variant False TLK2@p.E141K 1 0.195121951 ENSG00000146872 chr17:62536227-62536227;G/A missense_variant False TLK1@p.S361C 1 0.058139535 ENSG00000198586 chr2:171046261-171046261;G/C missense_variant False TLK1@p.R123K 1 0.290322581 ENSG00000198586 chr2:171061119-171061119;C/T missense_variant False TLK1@p.G301_V306del 1 0.136363636 ENSG00000198586 chr2:171049877-171049894;ACTGTTGTAAAGTGCCCG/- inframe_deletion False TLK2@p.S748L 1 0.202531646 ENSG00000146872 chr17:62612489-62612489;C/T missense_variant False TLL1@p.D480N 1 0.433333333 ENSG00000038295 chr4:166043333-166043333;G/A missense_variant False TLL1@p.E273K 1 0.278350515 ENSG00000038295 chr4:166007948-166007948;G/A missense_variant False TLL1@p.E46D 1 0.35451505 ENSG00000038295 chr4:165874042-165874042;G/C missense_variant False TLL1@p.G560R 1 0.115384615 ENSG00000038295 chr4:166055229-166055229;G/A missense_variant False TLL1@p.Q905K 1 0.446808511 ENSG00000038295 chr4:166099333-166099333;C/A missense_variant False TLL1@p.R483H 1 0.465838509 ENSG00000038295 chr4:166043343-166043343;G/A missense_variant False TLL1@p.S714Y 1 0.448598131 ENSG00000038295 chr4:166065816-166065816;C/A missense_variant False TLL1@p.V132I 1 0.185185185 ENSG00000038295 chr4:165994413-165994413;G/A missense_variant False TLL2@p.E608D 1 0.180232558 ENSG00000095587 chr10:96386981-96386981;C/A missense_variant False TLL2@p.E974Q 1 0.195121951 ENSG00000095587 chr10:96368216-96368216;C/G missense_variant False TLL2@p.E99Q 1 0.218309859 ENSG00000095587 chr10:96446160-96446160;C/G missense_variant False TLL2@p.G785E 1 0.696428571 ENSG00000095587 chr10:96376786-96376786;C/T missense_variant False TLL2@p.R81Dfs*13 1 0.204918033 ENSG00000095587 chr10:96480379-96480395;GCTTGGTCCAGTCTCTG/- frameshift_variant False TLL2@p.R81T 1 0.080291971 ENSG00000095587 chr10:96480393-96480393;C/G missense_variant False TLL2@p.S37L 1 0.36 ENSG00000095587 chr10:96513576-96513576;G/A missense_variant False TLL2@p.S807Y 1 0.064814815 ENSG00000095587 chr10:96376720-96376720;G/T missense_variant False TLR10@p.R83K 1 0.538461538 ENSG00000174123 chr4:38775343-38775343;C/T missense_variant False TLR10@p.S142L 1 0.387096774 ENSG00000174123 chr4:38775166-38775166;G/A missense_variant False TLR10@p.T462I 1 0.491666667 ENSG00000174123 chr4:38774206-38774206;G/A missense_variant False TLR8@p.S397P 1 0.415584416 ENSG00000101916 chrX:12920229-12920229;T/C missense_variant False TLR9@p.R728Q 1 0.088888889 ENSG00000239732 chr3:52222133-52222133;C/T missense_variant False TLR9@p.N731T 1 0.082352941 ENSG00000239732 chr3:52222124-52222124;T/G missense_variant False TLR9@p.H566Y 1 0.272727273 ENSG00000239732 chr3:52222620-52222620;G/A missense_variant False TLR9@p.F675L 1 0.474747475 ENSG00000239732 chr3:52222291-52222291;G/T missense_variant False TLR9@p.E432K 1 0.243902439 ENSG00000239732 chr3:52223022-52223022;C/T missense_variant False TLR9@p.A666S 1 0.303921569 ENSG00000239732 chr3:52222320-52222320;C/A missense_variant False TLR8@p.H469D 1 0.383561644 ENSG00000101916 chrX:12920445-12920445;C/G missense_variant False TLR7@p.D892H 1 0.128318584 ENSG00000196664 chrX:12888182-12888182;G/C missense_variant False TLR8@p.H450D 1 0.61971831 ENSG00000101916 chrX:12920388-12920388;C/G missense_variant False TLR8@p.F579C 1 0.975609756 ENSG00000101916 chrX:12920776-12920776;T/G missense_variant False TLR8@p.F363L 1 0.3625 ENSG00000101916 chrX:12920129-12920129;C/G missense_variant False TLR8@p.E27D 1 0.096153846 ENSG00000101916 chrX:12919121-12919121;A/C missense_variant False TLR7@p.T450I 1 0.125984252 ENSG00000196664 chrX:12886857-12886857;C/T missense_variant False TLR7@p.R378T 1 0.128712871 ENSG00000196664 chrX:12886641-12886641;G/C missense_variant False TLR9@p.V788L 1 0.378787879 ENSG00000239732 chr3:52221954-52221954;C/G missense_variant False TLX1@p.E230K 1 0.523809524 ENSG00000107807 chr10:101134294-101134294;G/A missense_variant False TLX1@p.E267K 1 0.435897436 ENSG00000107807 chr10:101136719-101136719;G/A missense_variant False TLX2@p.R39H 1 0.142857143 ENSG00000115297 chr2:74514922-74514922;G/A missense_variant False TLX3@p.D21Y 1 0.411764706 ENSG00000164438 chr5:171309426-171309426;G/T missense_variant False TLX3@p.D39N 1 0.294117647 ENSG00000164438 chr5:171309480-171309480;G/A missense_variant False TLX3@p.Q209L 1 0.210526316 ENSG00000164438 chr5:171310354-171310354;A/T missense_variant False TM2D1@p.E44K 1 0.285714286 ENSG00000162604 chr1:61724991-61724991;C/T missense_variant False TM2D2@p.A59P 1 0.484848485 ENSG00000169490 chr8:38996265-38996265;C/G missense_variant False TM4SF18@p.I53M 1 0.119047619 ENSG00000163762 chr3:149333224-149333224;G/C missense_variant False TM4SF18@p.S193L 1 0.32 ENSG00000163762 chr3:149322269-149322269;G/A missense_variant False TM4SF1@p.E136K 1 0.1875 ENSG00000169908 chr3:149375450-149375450;C/T missense_variant False TM4SF4@p.S113L 1 0.231707317 ENSG00000169903 chr3:149487692-149487692;C/T missense_variant False TM6SF1@p.A184G 1 0.163934426 ENSG00000136404 chr15:83122826-83122826;C/G missense_variant False TM6SF1@p.H119D 1 0.208333333 ENSG00000136404 chr15:83119638-83119638;C/G missense_variant False TM6SF2@p.L225H 1 0.283783784 ENSG00000213996 chr19:19268023-19268023;A/T missense_variant False TM7SF2@p.E391Q 1 0.095238095 ENSG00000149809 chr11:65115967-65115967;G/C missense_variant False TLR7@p.M856I 1 0.360824742 ENSG00000196664 chrX:12888076-12888076;G/A missense_variant False TLR7@p.D548V 1 0.351724138 ENSG00000196664 chrX:12887151-12887151;A/T missense_variant False TLR1@p.D186H 1 0.227272727 ENSG00000174125 chr4:38798276-38798276;C/G missense_variant False TLR3@p.L722V 1 0.224719101 ENSG00000164342 chr4:186083850-186083850;C/G missense_variant False TLR3@p.W728C 1 0.363636364 ENSG00000164342 chr4:186083870-186083870;G/C missense_variant False TLR3@p.S783C 1 0.2 ENSG00000164342 chr4:186084034-186084034;C/G missense_variant False TLR3@p.S500L 1 0.405797101 ENSG00000164342 chr4:186083185-186083185;C/T missense_variant False TLR3@p.R453K 1 0.142857143 ENSG00000164342 chr4:186083044-186083044;G/A missense_variant False TLR3@p.Q62E 1 0.242424242 ENSG00000164342 chr4:186076803-186076803;C/G missense_variant False TLR3@p.L844M 1 0.333333333 ENSG00000164342 chr4:186084688-186084688;C/A missense_variant False TLR3@p.I807M 1 0.31147541 ENSG00000164342 chr4:186084107-186084107;C/G missense_variant False TLR7@p.D50Y 1 0.671428571 ENSG00000196664 chrX:12885656-12885656;G/T missense_variant False TLR2@p.K698R 1 0.190909091 ENSG00000137462 chr4:153705000-153705000;A/G missense_variant False TLR2@p.H398D 1 0.289855072 ENSG00000137462 chr4:153704099-153704099;C/G missense_variant False TLR2@p.E460Q 1 0.317073171 ENSG00000137462 chr4:153704285-153704285;G/C missense_variant False TLR1@p.R290T 1 0.14084507 ENSG00000174125 chr4:38797963-38797963;C/G missense_variant False TLR1@p.K415N 1 0.133333333 ENSG00000174125 chr4:38797587-38797587;C/G missense_variant False TLR1@p.D85H 1 0.444444444 ENSG00000174125 chr4:38798579-38798579;C/G missense_variant False TLR4@p.L372I 1 0.29 ENSG00000136869 chr9:117713242-117713242;C/A missense_variant False TLR4@p.L789V 1 0.483050847 ENSG00000136869 chr9:117714493-117714493;C/G missense_variant False TLR5@p.D377N 1 0.210084034 ENSG00000187554 chr1:223111903-223111903;C/T missense_variant False TLR5@p.D721Y 1 0.066666667 ENSG00000187554 chr1:223110871-223110871;C/A missense_variant False TLR5@p.E309K 1 0.466101695 ENSG00000187554 chr1:223112107-223112107;C/T missense_variant False TLR5@p.G10E 1 0.111111111 ENSG00000187554 chr1:223113003-223113003;C/T missense_variant False TLR5@p.H503Y 1 0.262626263 ENSG00000187554 chr1:223111525-223111525;G/A missense_variant False TLR5@p.L38V 1 0.514285714 ENSG00000187554 chr1:223112920-223112920;G/C missense_variant False TLR5@p.L441V 1 0.288135593 ENSG00000187554 chr1:223111711-223111711;G/C missense_variant False TLR5@p.S132C 1 0.076923077 ENSG00000187554 chr1:223112637-223112637;G/C missense_variant False TLR5@p.S535C 1 0.264900662 ENSG00000187554 chr1:223111428-223111428;G/C missense_variant False TLR5@p.S720T 1 0.074074074 ENSG00000187554 chr1:223110873-223110873;C/G missense_variant False TLR6@p.E66K 1 0.157894737 ENSG00000174130 chr4:38829278-38829278;C/T missense_variant False TLR6@p.L230V 1 0.617021277 ENSG00000174130 chr4:38828786-38828786;A/C missense_variant False TLR6@p.L81F 1 0.208955224 ENSG00000174130 chr4:38829231-38829231;C/G missense_variant False TLR6@p.R568T 1 0.249134948 ENSG00000174130 chr4:38827771-38827771;C/G missense_variant False TLR7@p.A83E 1 0.586956522 ENSG00000196664 chrX:12885756-12885756;C/A missense_variant False TLK1@p.E686Q 1 0.181818182 ENSG00000198586 chr2:170996721-170996721;C/G missense_variant False TLE5@p.S23W 1 0.053231939 ENSG00000104964 chr19:3061217-3061217;G/C missense_variant False TLE5@p.D184N 1 0.196850394 ENSG00000104964 chr19:3053863-3053863;C/T missense_variant False TIMM44@p.D373N 1 0.205882353 ENSG00000104980 chr19:7928088-7928088;C/T missense_variant False TIMMDC1@p.R14K 1 0.121212121 ENSG00000113845 chr3:119498774-119498774;G/A missense_variant False TIMMDC1@p.P6S 1 0.22826087 ENSG00000113845 chr3:119498749-119498749;C/T missense_variant False TIMM8A@p.S6C 1 0.421052632 ENSG00000126953 chrX:101348648-101348648;G/C missense_variant False TIMM44@p.I355M 1 0.235294118 ENSG00000104980 chr19:7928140-7928140;G/C missense_variant False TIMM44@p.E110Q 1 0.275862069 ENSG00000104980 chr19:7935130-7935130;C/G missense_variant False TIMM44@p.D412N 1 0.120192308 ENSG00000104980 chr19:7927662-7927662;C/T missense_variant False TIMM29@p.D186Y 1 0.713333333 ENSG00000142444 chr19:10929475-10929475;G/T missense_variant False TIMM17A@p.D88N 1 0.435897436 ENSG00000134375 chr1:201963687-201963687;G/A missense_variant False TIMM23@p.R51Q 1 0.181481481 ENSG00000265354 chr10:45975499-45975499;G/A missense_variant False TIMM23@p.E74Q 1 0.152941176 ENSG00000265354 chr10:45982577-45982577;G/C missense_variant False TIMM21@p.E147Q 1 0.204545455 ENSG00000075336 chr18:74155380-74155380;G/C missense_variant False TIMM21@p.E131Q 1 0.4125 ENSG00000075336 chr18:74155332-74155332;G/C missense_variant False TIMM17B@p.R45Q 1 0.227272727 ENSG00000126768 chrX:48895094-48895094;C/T missense_variant False TIMM17A@p.R38C 1 0.387096774 ENSG00000134375 chr1:201957366-201957366;C/T missense_variant False TIMP2@p.E117K 1 0.361111111 ENSG00000035862 chr17:78857638-78857638;C/T missense_variant False TIMP2@p.G106E 1 0.340909091 ENSG00000035862 chr17:78870921-78870921;C/T missense_variant False TIMP4@p.D89N 1 0.403361345 ENSG00000157150 chr3:12156907-12156907;C/T missense_variant False TIMP4@p.S44L 1 0.686746988 ENSG00000157150 chr3:12158710-12158710;G/A missense_variant False TINAG@p.L80S 1 0.263736264 ENSG00000137251 chr6:54308789-54308789;T/C missense_variant False TINAG@p.T40P 1 0.302631579 ENSG00000137251 chr6:54308668-54308668;A/C missense_variant False TINAGL1@p.I111M 1 0.580645161 ENSG00000142910 chr1:31579226-31579226;C/G missense_variant False TINAGL1@p.K377N 1 0.76 ENSG00000142910 chr1:31585790-31585790;G/C missense_variant False TINAGL1@p.S348C 1 0.14516129 ENSG00000142910 chr1:31585336-31585336;C/G missense_variant False TINF2@p.E251K 1 0.135294118 ENSG00000092330 chr14:24240729-24240729;C/T missense_variant False TINF2@p.E304K 1 0.235294118 ENSG00000092330 chr14:24240570-24240570;C/T missense_variant False TINF2@p.S130L 1 0.390243902 ENSG00000092330 chr14:24241685-24241685;G/A missense_variant False TINF2@p.S381C 1 0.263473054 ENSG00000092330 chr14:24240143-24240143;G/C missense_variant False TIPARP@p.E290K 1 0.651515152 ENSG00000163659 chr3:156678565-156678565;G/A missense_variant False TIPARP@p.E95K 1 0.138461538 ENSG00000163659 chr3:156677980-156677980;G/A missense_variant False TIPARP@p.G118R 1 0.372670807 ENSG00000163659 chr3:156678049-156678049;G/A missense_variant False TIPARP@p.N192Kfs*15 1 0.307017544 ENSG00000163659 chr3:156678273-156678273;C/- frameshift_variant False TIMM17A@p.I26Lfs*19 1 0.395833333 ENSG00000134375 chr1:201957328-201957328;C/- frameshift_variant False TIMELESS@p.R515Q 1 0.204545455 ENSG00000111602 chr12:56428270-56428270;C/T missense_variant False TIPARP@p.S579F 1 0.440251572 ENSG00000163659 chr3:156704893-156704893;C/T missense_variant False TIGD5@p.L599V 1 0.4 ENSG00000179886 chr8:143599698-143599698;C/G missense_variant False TIGD7@p.E407D 1 0.081521739 ENSG00000140993 chr16:3299394-3299394;T/G missense_variant False TIGD7@p.E362Q 1 0.121212121 ENSG00000140993 chr16:3299531-3299531;C/G missense_variant False TIGD7@p.E310K 1 0.565217391 ENSG00000140993 chr16:3299687-3299687;C/T missense_variant False TIGD7@p.E273Q 1 0.535211268 ENSG00000140993 chr16:3299798-3299798;C/G missense_variant False TIGD7@p.D181N 1 0.595505618 ENSG00000140993 chr16:3300074-3300074;C/T missense_variant False TIGD5@p.P555L 1 0.2 ENSG00000179886 chr8:143599567-143599567;C/T missense_variant False TIGD5@p.G462A 1 0.25 ENSG00000179886 chr8:143599288-143599288;G/C missense_variant False TIMELESS@p.Q635E 1 0.382022472 ENSG00000111602 chr12:56423860-56423860;G/C missense_variant False TIGD5@p.E152K 1 0.75 ENSG00000179886 chr8:143598357-143598357;G/A missense_variant False TIGD5@p.E123D 1 0.19047619 ENSG00000179886 chr8:143598272-143598272;G/C missense_variant False TIGD5@p.E121K 1 0.184210526 ENSG00000179886 chr8:143598264-143598264;G/A missense_variant False TIGD4@p.S247L 1 0.077844311 ENSG00000169989 chr4:152770265-152770265;G/A missense_variant False TIGD4@p.N181S 1 0.907692308 ENSG00000169989 chr4:152770463-152770463;T/C missense_variant False TIGD4@p.E24Q 1 0.185840708 ENSG00000169989 chr4:152770935-152770935;C/G missense_variant False TIGD7@p.E469Q 1 0.142857143 ENSG00000140993 chr16:3299210-3299210;C/G missense_variant False TIGD7@p.K203N 1 0.206703911 ENSG00000140993 chr16:3300006-3300006;C/G missense_variant False TIGD7@p.K3N 1 0.140625 ENSG00000140993 chr16:3300606-3300606;C/G missense_variant False TIGD7@p.Q471H 1 0.277777778 ENSG00000140993 chr16:3299202-3299202;C/G missense_variant False TIGD7@p.R481K 1 0.840425532 ENSG00000140993 chr16:3299173-3299173;C/T missense_variant False TIGIT@p.A208V 1 0.194444444 ENSG00000181847 chr3:114308019-114308019;C/T missense_variant False TIMD4@p.D357N 1 0.14084507 ENSG00000145850 chr5:156919525-156919525;C/T missense_variant False TIMD4@p.D57N 1 0.328947368 ENSG00000145850 chr5:156954646-156954646;C/T missense_variant False TIMD4@p.R79I 1 0.160714286 ENSG00000145850 chr5:156954579-156954579;C/A missense_variant False TIMD4@p.S283C 1 0.222222222 ENSG00000145850 chr5:156926309-156926309;G/C missense_variant False TIMD4@p.V266M 1 0.346153846 ENSG00000145850 chr5:156948464-156948464;C/T missense_variant False TIMELESS@p.D1122N 1 0.235494881 ENSG00000111602 chr12:56418224-56418224;C/T missense_variant False TIMELESS@p.E103A 1 0.615384615 ENSG00000111602 chr12:56433596-56433596;T/G missense_variant False TIMELESS@p.E428K 1 0.261538462 ENSG00000111602 chr12:56428905-56428905;C/T missense_variant False TIMELESS@p.E565Q 1 0.056910569 ENSG00000111602 chr12:56425038-56425038;C/G missense_variant False TIMELESS@p.E825K 1 0.244444444 ENSG00000111602 chr12:56422157-56422157;C/T missense_variant False TIMELESS@p.L792V 1 0.312101911 ENSG00000111602 chr12:56422911-56422911;A/C missense_variant False TIPARP@p.S219F 1 0.064516129 ENSG00000163659 chr3:156678353-156678353;C/T missense_variant False TIPIN@p.D168H 1 0.325 ENSG00000075131 chr15:66341330-66341330;C/G missense_variant False TLE5@p.C89S 1 0.31372549 ENSG00000104964 chr19:3055695-3055695;C/G missense_variant False TLCD3A@p.M84I 1 0.076923077 ENSG00000167695 chr17:737891-737891;G/A missense_variant False TLDC2@p.F81L 1 0.305389222 ENSG00000101342 chr20:36879094-36879094;C/G missense_variant False TLDC2@p.E60Q 1 0.381818182 ENSG00000101342 chr20:36878043-36878043;G/C missense_variant False TLCD4@p.T5R 1 0.523809524 ENSG00000152078 chr1:95143915-95143915;C/G missense_variant False TLCD4@p.I242M 1 0.196721311 ENSG00000152078 chr1:95191802-95191802;C/G missense_variant False TLCD4-RWDD3@p.R194L 1 0.523809524 ENSG00000271092 chr1:95244225-95244225;G/T missense_variant False TLCD3B@p.F171L 1 0.097345133 ENSG00000149926 chr16:30025753-30025753;G/T missense_variant False TLCD1@p.R109Q 1 0.322580645 ENSG00000160606 chr17:28725338-28725338;C/T missense_variant False TKTL1@p.T254N 1 0.151898734 ENSG00000007350 chrX:154312670-154312670;C/A missense_variant False TLCD1@p.L166V 1 0.246268657 ENSG00000160606 chr17:28724758-28724758;G/C missense_variant False TLCD1@p.K237N 1 0.133064516 ENSG00000160606 chr17:28724543-28724543;C/A missense_variant False TLCD1@p.E77Q 1 0.167832168 ENSG00000160606 chr17:28725529-28725529;C/G missense_variant False TKTL2@p.V121L 1 0.310810811 ENSG00000151005 chr4:163473374-163473374;C/G missense_variant False TKTL2@p.I474V 1 0.229357798 ENSG00000151005 chr4:163472315-163472315;T/C missense_variant False TKTL2@p.G513E 1 0.104651163 ENSG00000151005 chr4:163472197-163472197;C/T missense_variant False TLE1@p.A291T 1 0.696428571 ENSG00000196781 chr9:81616029-81616029;C/T missense_variant False TLE1@p.K225N 1 0.369230769 ENSG00000196781 chr9:81620477-81620477;C/A missense_variant False TLE1@p.M67I 1 0.375 ENSG00000196781 chr9:81685709-81685709;C/A missense_variant False TLE1@p.P287A 1 0.163265306 ENSG00000196781 chr9:81616041-81616041;G/C missense_variant False TLE1@p.S285T 1 0.057142857 ENSG00000196781 chr9:81616046-81616046;C/G missense_variant False TLE1@p.S625C 1 0.648648649 ENSG00000196781 chr9:81587784-81587784;G/C missense_variant False TLE2@p.K232Efs*2 1 0.344827586 ENSG00000065717 chr19:3014598-3014599;TT/- frameshift_variant False TLE2@p.N119K 1 0.153846154 ENSG00000065717 chr19:3019711-3019711;G/C missense_variant False TLE2@p.V367M 1 0.606060606 ENSG00000065717 chr19:3009616-3009616;C/T missense_variant False TLE3@p.D597N 1 0.232394366 ENSG00000140332 chr15:70054484-70054484;C/T missense_variant False TLE3@p.R6T 1 0.230769231 ENSG00000140332 chr15:70096782-70096782;C/G missense_variant False TLE3@p.S563L 1 0.282608696 ENSG00000140332 chr15:70054585-70054585;G/A missense_variant False TLE4@p.E52Q 1 0.208955224 ENSG00000106829 chr9:79574883-79574883;G/C missense_variant False TLE4@p.L148V 1 0.267973856 ENSG00000106829 chr9:79652644-79652644;C/G missense_variant False TLE4@p.P290L 1 0.768421053 ENSG00000106829 chr9:79706832-79706832;C/T missense_variant False TLE4@p.Q136Sfs*13 1 0.25106383 ENSG00000106829 chr9:79652606-79652606;C/- frameshift_variant False TLE4@p.S665F 1 0.926136364 ENSG00000106829 chr9:79722458-79722458;C/T missense_variant False TKTL2@p.C207F 1 0.820754717 ENSG00000151005 chr4:163473115-163473115;C/A missense_variant False TKTL1@p.S41F 1 0.247058824 ENSG00000007350 chrX:154295981-154295981;C/T missense_variant False TIPIN@p.E241K 1 0.098039216 ENSG00000075131 chr15:66337143-66337143;C/T missense_variant False TJP1@p.P1246S 1 0.616666667 ENSG00000104067 chr15:29718406-29718406;G/A missense_variant False TJP2@p.G50R 1 0.142857143 ENSG00000119139 chr9:69216372-69216372;G/A missense_variant False TJP2@p.F1009L 1 0.393846154 ENSG00000119139 chr9:69251070-69251070;C/A missense_variant False TJP2@p.E720Q 1 0.172661871 ENSG00000119139 chr9:69237115-69237115;G/C missense_variant False TJP2@p.E1086K 1 0.214285714 ENSG00000119139 chr9:69251299-69251299;G/A missense_variant False TJP2@p.D425H 1 0.470588235 ENSG00000119139 chr9:69227827-69227827;G/C missense_variant False TJP1@p.S747F 1 0.376068376 ENSG00000104067 chr15:29726852-29726852;G/A missense_variant False TJP1@p.G1182V 1 0.268817204 ENSG00000104067 chr15:29718597-29718597;C/A missense_variant False TKTL1@p.R292W 1 0.184 ENSG00000007350 chrX:154315182-154315182;C/T missense_variant False TJP1@p.D1363N 1 0.111111111 ENSG00000104067 chr15:29716726-29716726;C/T missense_variant False TJAP1@p.S251N 1 0.367346939 ENSG00000137221 chr6:43504933-43504933;G/A missense_variant False TJAP1@p.E495Q 1 0.904761905 ENSG00000137221 chr6:43505664-43505664;G/C missense_variant False TIPRL@p.R195T 1 0.434782609 ENSG00000143155 chr1:168196614-168196614;G/C missense_variant False TIPRL@p.L231P 1 0.795 ENSG00000143155 chr1:168199919-168199919;T/C missense_variant False TIPRL@p.D206Y 1 0.222222222 ENSG00000143155 chr1:168198922-168198922;G/T missense_variant False TJP2@p.I408T 1 0.216216216 ENSG00000119139 chr9:69227777-69227777;T/C missense_variant False TJP2@p.R158S 1 0.25 ENSG00000119139 chr9:69221018-69221018;G/C missense_variant False TJP2@p.R84T 1 0.657142857 ENSG00000119139 chr9:69218268-69218268;G/C missense_variant False TJP2@p.S836Y 1 0.588235294 ENSG00000119139 chr9:69240088-69240088;C/A missense_variant False TJP3@p.S846L 1 0.21875 ENSG00000105289 chr19:3748008-3748008;C/T missense_variant False TJP3@p.V627M 1 0.226890756 ENSG00000105289 chr19:3743974-3743974;G/A missense_variant False TK1@p.E169K 1 0.318181818 ENSG00000167900 chr17:78175058-78175058;C/T missense_variant False TK1@p.I105M 1 0.410958904 ENSG00000167900 chr17:78175607-78175607;G/C missense_variant False TKFC@p.E236Q 1 0.465753425 ENSG00000149476 chr11:61342589-61342589;G/C missense_variant False TKFC@p.E532K 1 0.26 ENSG00000149476 chr11:61346369-61346369;G/A missense_variant False TKFC@p.G346R 1 0.131578947 ENSG00000149476 chr11:61343909-61343909;G/A missense_variant False TKFC@p.I177N 1 0.333333333 ENSG00000149476 chr11:61341479-61341479;T/A missense_variant False TKFC@p.S498Y 1 0.573033708 ENSG00000149476 chr11:61345864-61345864;C/A missense_variant False TKT@p.E96K 1 0.288888889 ENSG00000163931 chr3:53241185-53241185;C/T missense_variant False TKT@p.I410M 1 0.192307692 ENSG00000163931 chr3:53229314-53229314;G/C missense_variant False TKTL1@p.D154H 1 0.583333333 ENSG00000007350 chrX:154310945-154310945;G/C missense_variant False TKTL1@p.Q341R 1 0.111111111 ENSG00000007350 chrX:154315330-154315330;A/G missense_variant False TM7SF3@p.D57N 1 0.267857143 ENSG00000064115 chr12:27003313-27003313;C/T missense_variant False TM7SF3@p.Q72L 1 0.084745763 ENSG00000064115 chr12:27003267-27003267;T/A missense_variant False TMEM17@p.E31K 1 0.2 ENSG00000186889 chr2:62506039-62506039;C/T missense_variant False TMEM132A@p.R161W 1 0.364864865 ENSG00000006118 chr11:60927806-60927806;C/T missense_variant False TMEM132B@p.E821K 1 0.433962264 ENSG00000139364 chr12:125653934-125653934;G/A missense_variant False TMEM132B@p.E753K 1 0.384615385 ENSG00000139364 chr12:125653730-125653730;G/A missense_variant False TMEM132B@p.A568T 1 0.344827586 ENSG00000139364 chr12:125650756-125650756;G/A missense_variant False TMEM132B@p.A568D 1 0.315789474 ENSG00000139364 chr12:125650757-125650757;C/A missense_variant False TMEM132A@p.S196L 1 0.413793103 ENSG00000006118 chr11:60928681-60928681;C/T missense_variant False TMEM132A@p.R77Q 1 0.38028169 ENSG00000006118 chr11:60927333-60927333;G/A missense_variant False TMEM132A@p.Q876E 1 0.294117647 ENSG00000006118 chr11:60936461-60936461;C/G missense_variant False TMEM132B@p.G799S 1 0.299065421 ENSG00000139364 chr12:125653868-125653868;G/A missense_variant False TMEM132A@p.P374R 1 0.232704403 ENSG00000006118 chr11:60931793-60931793;C/G missense_variant False TMEM132A@p.F101L 1 0.173913043 ENSG00000006118 chr11:60927404-60927404;T/C missense_variant False TMEM132A@p.D54H 1 0.258064516 ENSG00000006118 chr11:60927263-60927263;G/C missense_variant False TMEM131L@p.T1424S 1 0.383333333 ENSG00000121210 chr4:153632784-153632784;C/G missense_variant False TMEM131L@p.S1247C 1 0.353846154 ENSG00000121210 chr4:153621733-153621733;C/G missense_variant False TMEM131L@p.R842C 1 0.111111111 ENSG00000121210 chr4:153602615-153602615;C/T missense_variant False TMEM132B@p.G591V 1 0.25 ENSG00000139364 chr12:125650826-125650826;G/T missense_variant False TMEM132B@p.I657V 1 0.176470588 ENSG00000139364 chr12:125652510-125652510;A/G missense_variant False TM7SF3@p.Q74H 1 0.1875 ENSG00000064115 chr12:27003260-27003260;C/G missense_variant False TMEM132D@p.E975K 1 0.084745763 ENSG00000151952 chr12:129074252-129074252;C/T missense_variant False TMEM132D@p.Q701H 1 0.216494845 ENSG00000151952 chr12:129078546-129078546;C/G missense_variant False TMEM132D@p.P645H 1 0.296703297 ENSG00000151952 chr12:129078715-129078715;G/T missense_variant False TMEM132D@p.K364N 1 0.306451613 ENSG00000151952 chr12:129531082-129531082;C/A missense_variant False TMEM132D@p.G789A 1 0.21 ENSG00000151952 chr12:129074809-129074809;C/G missense_variant False TMEM132D@p.G181D 1 0.222222222 ENSG00000151952 chr12:129700236-129700236;C/T missense_variant False TMEM132D@p.F60I 1 0.494117647 ENSG00000151952 chr12:129700600-129700600;A/T missense_variant False TMEM132D@p.E178K 1 0.25 ENSG00000151952 chr12:129700246-129700246;C/T missense_variant False TMEM132B@p.Q693E 1 0.191489362 ENSG00000139364 chr12:125652618-125652618;C/G missense_variant False TMEM132D@p.E1033K 1 0.211267606 ENSG00000151952 chr12:129074078-129074078;C/T missense_variant False TMEM132D@p.D893Y 1 0.193181818 ENSG00000151952 chr12:129074498-129074498;C/A missense_variant False TMEM132B@p.S65G 1 0.14893617 ENSG00000139364 chr12:125349592-125349592;A/G missense_variant False TMEM132B@p.S45Y 1 0.220338983 ENSG00000139364 chr12:125349533-125349533;C/A missense_variant False TMEM132B@p.R834C 1 0.189655172 ENSG00000139364 chr12:125653973-125653973;C/T missense_variant False TMEM132B@p.R175W 1 0.415841584 ENSG00000139364 chr12:125349922-125349922;C/T missense_variant False TMEM131L@p.M901I 1 0.421686747 ENSG00000121210 chr4:153603369-153603369;G/C missense_variant False TMEM131L@p.M647I 1 0.204081633 ENSG00000121210 chr4:153593820-153593820;G/C missense_variant False TMEM131L@p.L936F 1 0.166666667 ENSG00000121210 chr4:153603821-153603821;C/T missense_variant False TMEM121B@p.S526F 1 0.357142857 ENSG00000183307 chr22:17119551-17119551;G/A missense_variant False TMEM130@p.I321M 1 0.091503268 ENSG00000166448 chr7:98851464-98851464;G/C missense_variant False TMEM130@p.A65T 1 0.32 ENSG00000166448 chr7:98863293-98863293;C/T missense_variant False TMEM126A@p.P118Tfs*9 1 0.272413793 ENSG00000171202 chr11:85655659-85655660;-/TA frameshift_variant False TMEM123@p.T132I 1 0.106951872 ENSG00000152558 chr11:102401969-102401969;G/A missense_variant False TMEM123@p.Q127E 1 0.292857143 ENSG00000152558 chr11:102401985-102401985;G/C missense_variant False TMEM123@p.H137Y 1 0.952604411 ENSG00000152558 chr11:102401955-102401955;G/A missense_variant False TMEM120A@p.Q241H 1 0.25 ENSG00000189077 chr7:75987779-75987779;C/G missense_variant False TMEM131L@p.L680V 1 0.152866242 ENSG00000121210 chr4:153596303-153596303;C/G missense_variant False TMEM11@p.E46Q 1 0.233333333 ENSG00000178307 chr17:21198767-21198767;C/G missense_variant False TMEM11@p.E188K 1 0.4 ENSG00000178307 chr17:21198341-21198341;C/T missense_variant False TMEM119@p.Y94F 1 0.166666667 ENSG00000183160 chr12:108592103-108592103;T/A missense_variant False TMEM117@p.V311I 1 0.108108108 ENSG00000139173 chr12:44388058-44388058;G/A missense_variant False TMEM117@p.G331R 1 0.38 ENSG00000139173 chr12:44388118-44388118;G/A missense_variant False TMEM117@p.F122V 1 0.367088608 ENSG00000139173 chr12:43944296-43944296;T/G missense_variant False TMEM130@p.Q367E 1 0.094017094 ENSG00000166448 chr7:98848603-98848603;G/C missense_variant False TMEM130@p.S235L 1 0.5 ENSG00000166448 chr7:98856031-98856031;G/A missense_variant False TMEM130@p.S429C 1 0.189189189 ENSG00000166448 chr7:98848078-98848078;G/C missense_variant False TMEM131@p.D728N 1 0.428571429 ENSG00000075568 chr2:97805577-97805577;C/T missense_variant False TMEM131@p.D858H 1 0.333333333 ENSG00000075568 chr2:97802507-97802507;C/G missense_variant False TMEM131@p.E1333K 1 0.225 ENSG00000075568 chr2:97792533-97792533;C/T missense_variant False TMEM131@p.E1435Q 1 0.264705882 ENSG00000075568 chr2:97775860-97775860;C/G missense_variant False TMEM131@p.E612Q 1 0.489795918 ENSG00000075568 chr2:97812450-97812450;C/G missense_variant False TMEM131@p.E975Q 1 0.294117647 ENSG00000075568 chr2:97796934-97796934;C/G missense_variant False TMEM131@p.I295R 1 0.327044025 ENSG00000075568 chr2:97834846-97834846;A/C missense_variant False TMEM131@p.K1522E 1 0.241935484 ENSG00000075568 chr2:97766487-97766487;T/C missense_variant False TMEM131@p.K1653N 1 0.186046512 ENSG00000075568 chr2:97760845-97760845;C/G missense_variant False TMEM131@p.R601K 1 0.628571429 ENSG00000075568 chr2:97812482-97812482;C/T missense_variant False TMEM131@p.R709P 1 0.422764228 ENSG00000075568 chr2:97805633-97805633;C/G missense_variant False TMEM131@p.S285C 1 0.128654971 ENSG00000075568 chr2:97834876-97834876;G/C missense_variant False TMEM131L@p.D282N 1 0.42 ENSG00000121210 chr4:153581512-153581512;G/A missense_variant False TMEM131L@p.I1551M 1 0.233870968 ENSG00000121210 chr4:153636399-153636399;C/G missense_variant False TMEM132D@p.R184Q 1 0.166666667 ENSG00000151952 chr12:129700227-129700227;C/T missense_variant False TMEM132D@p.R285H 1 0.142857143 ENSG00000151952 chr12:129699924-129699924;C/T missense_variant False TMEM132D@p.R313T 1 0.145833333 ENSG00000151952 chr12:129699840-129699840;C/G missense_variant False TMEM159@p.S10L 1 0.317647059 None chr16:21161211-21161211;C/T missense_variant False TMEM168@p.D341H 1 0.396694215 ENSG00000146802 chr7:112783805-112783805;C/G missense_variant False TMEM167B@p.R29C 1 0.235 ENSG00000215717 chr1:109092964-109092964;C/T missense_variant False TMEM165@p.E248Q 1 0.410714286 ENSG00000134851 chr4:55417935-55417935;G/C missense_variant False TMEM164@p.K294N 1 0.763636364 ENSG00000157600 chrX:110173439-110173439;G/C missense_variant False TMEM164@p.E232D 1 0.953488372 ENSG00000157600 chrX:110173253-110173253;A/C missense_variant False TMEM161B@p.M432I 1 0.383333333 ENSG00000164180 chr5:88196379-88196379;C/T missense_variant False TMEM156@p.L75V 1 0.648648649 ENSG00000121895 chr4:38998775-38998775;G/C missense_variant False TMEM14B@p.N62K 1 0.764705882 ENSG00000137210 chr6:10751218-10751218;C/A missense_variant False TMEM151A@p.R284L 1 0.285714286 ENSG00000179292 chr11:66295097-66295097;G/T missense_variant False TMEM151A@p.G466S 1 0.146341463 ENSG00000179292 chr11:66295642-66295642;G/A missense_variant False TMEM151A@p.F288L 1 0.24 ENSG00000179292 chr11:66295110-66295110;C/G missense_variant False TMEM151A@p.D263Y 1 0.4 ENSG00000179292 chr11:66295033-66295033;G/T missense_variant False TMEM150C@p.S235L 1 0.409090909 ENSG00000249242 chr4:82485557-82485557;G/A missense_variant False TMEM150C@p.L85V 1 0.230769231 ENSG00000249242 chr4:82496178-82496178;G/C missense_variant False TMEM168@p.L313I 1 0.491620112 ENSG00000146802 chr7:112783889-112783889;G/T missense_variant False TMEM168@p.L627V 1 0.06741573 ENSG00000146802 chr7:112767412-112767412;G/C missense_variant False TMEM169@p.E141Kfs*25 1 0.666666667 ENSG00000163449 chr2:216100067-216100067;G/- frameshift_variant False TMEM169@p.E77Q 1 0.181818182 ENSG00000163449 chr2:216096192-216096192;G/C missense_variant False TMEM169@p.G72E 1 0.736842105 ENSG00000163449 chr2:216096178-216096178;G/A missense_variant False TMEM169@p.R246Q 1 0.566502463 ENSG00000163449 chr2:216100385-216100385;G/A missense_variant False TMEM170B@p.I123M 1 0.137931034 ENSG00000205269 chr6:11575531-11575531;C/G missense_variant False TMEM171@p.C24R 1 0.346153846 ENSG00000157111 chr5:73123443-73123443;T/C missense_variant False TMEM175@p.A200D 1 0.103896104 ENSG00000127419 chr4:953326-953326;C/A missense_variant False TMEM175@p.C116S 1 0.186046512 ENSG00000127419 chr4:951686-951686;G/C missense_variant False TMEM175@p.F162L 1 0.129032258 ENSG00000127419 chr4:953213-953213;C/A missense_variant False TMEM175@p.M117I 1 0.236111111 ENSG00000127419 chr4:951690-951690;G/A missense_variant False TMEM175@p.S203_F206del 1 0.1 ENSG00000127419 chr4:953334-953345;TCTCTCTTCTTT/- inframe_deletion False TMEM176B@p.G82V 1 0.236641221 ENSG00000106565 chr7:150794031-150794031;C/A missense_variant False TMEM176B@p.S258L 1 0.160714286 ENSG00000106565 chr7:150791571-150791571;G/A missense_variant False TMEM179B@p.D209N 1 0.119266055 ENSG00000185475 chr11:62790012-62790012;G/A missense_variant False TMEM179B@p.E10Q 1 0.391304348 ENSG00000185475 chr11:62787459-62787459;G/C missense_variant False TMEM150C@p.E126G 1 0.219512195 ENSG00000249242 chr4:82490225-82490225;T/C missense_variant False TMEM145@p.S451W 1 0.176470588 ENSG00000167619 chr19:42323740-42323740;C/G missense_variant False TMEM132D@p.S315C 1 0.223214286 ENSG00000151952 chr12:129699834-129699834;G/C missense_variant False TMEM132E@p.T870I 1 0.233333333 ENSG00000181291 chr17:34637886-34637886;C/T missense_variant False TMEM140@p.E71K 1 0.290697674 ENSG00000146859 chr7:135164652-135164652;G/A missense_variant False TMEM139@p.R158I 1 0.1875 ENSG00000178826 chr7:143286651-143286651;G/T missense_variant False TMEM139@p.H201Y 1 0.5 ENSG00000178826 chr7:143286779-143286779;C/T missense_variant False TMEM135@p.S290C 1 0.044117647 ENSG00000166575 chr11:87309605-87309605;C/G missense_variant False TMEM135@p.F292L 1 0.336538462 ENSG00000166575 chr11:87309612-87309612;C/G missense_variant False TMEM132E@p.Y224D 1 0.127906977 ENSG00000181291 chr17:34626999-34626999;T/G missense_variant False TMEM132E@p.R694C 1 0.343434343 ENSG00000181291 chr17:34637357-34637357;C/T missense_variant False TMEM145@p.R491G 1 0.25 ENSG00000167619 chr19:42324806-42324806;C/G missense_variant False TMEM132E@p.P784S 1 0.428571429 ENSG00000181291 chr17:34637627-34637627;C/T missense_variant False TMEM132E@p.G858V 1 0.542857143 ENSG00000181291 chr17:34637850-34637850;G/T missense_variant False TMEM132E@p.E834K 1 0.238636364 ENSG00000181291 chr17:34637777-34637777;G/A missense_variant False TMEM132E@p.E418Q 1 0.253521127 ENSG00000181291 chr17:34632743-34632743;G/C missense_variant False TMEM132E@p.D347N 1 0.285714286 ENSG00000181291 chr17:34629175-34629175;G/A missense_variant False TMEM132D@p.T721P 1 0.238095238 ENSG00000151952 chr12:129075014-129075014;T/G missense_variant False TMEM140@p.R7W 1 0.66 ENSG00000146859 chr7:135164460-135164460;C/T missense_variant False TMEM141@p.M32I 1 0.47 ENSG00000244187 chr9:136791752-136791752;G/A missense_variant False TMEM143@p.A279P 1 0.590909091 ENSG00000161558 chr19:48342670-48342670;C/G missense_variant False TMEM143@p.E352Q 1 0.5 ENSG00000161558 chr19:48334119-48334119;C/G missense_variant False TMEM143@p.F77L 1 0.078431373 ENSG00000161558 chr19:48363324-48363324;G/C missense_variant False TMEM143@p.I87M 1 0.196721311 ENSG00000161558 chr19:48363294-48363294;T/C missense_variant False TMEM143@p.K236T 1 0.632653061 ENSG00000161558 chr19:48342798-48342798;T/G missense_variant False TMEM143@p.K56_R64del 1 0.333333333 ENSG00000161558 chr19:48363363-48363389;GCGGGGCTCCCTGGGGTTCCACATCTT/- inframe_deletion False TMEM143@p.S92W 1 0.194444444 ENSG00000161558 chr19:48360166-48360166;G/C missense_variant False TMEM144@p.I332V 1 0.321428571 ENSG00000164124 chr4:158253483-158253483;A/G missense_variant False TMEM144@p.Y246C 1 0.166666667 ENSG00000164124 chr4:158240353-158240353;A/G missense_variant False TMEM145@p.D232N 1 0.13229572 ENSG00000167619 chr19:42316528-42316528;G/A missense_variant False TMEM145@p.E147Q 1 0.277777778 ENSG00000167619 chr19:42315011-42315011;G/C missense_variant False TMEM145@p.E167Q 1 0.208333333 ENSG00000167619 chr19:42315071-42315071;G/C missense_variant False TMEM145@p.E215Q 1 0.302325581 ENSG00000167619 chr19:42315437-42315437;G/C missense_variant False TMEM145@p.E343Q 1 0.263513514 ENSG00000167619 chr19:42317835-42317835;G/C missense_variant False TMEM145@p.I180M 1 0.170212766 ENSG00000167619 chr19:42315222-42315222;C/G missense_variant False TMEM115@p.R160Q 1 0.324324324 ENSG00000126062 chr3:50358585-50358585;C/T missense_variant False TMEM115@p.A148V 1 0.482758621 ENSG00000126062 chr3:50358621-50358621;G/A missense_variant False TMEM109@p.Q129H 1 0.392592593 ENSG00000110108 chr11:60921820-60921820;G/C missense_variant False TMC4@p.D491V 1 0.5 ENSG00000167608 chr19:54162721-54162721;T/A missense_variant False TMC5@p.F743L 1 0.412556054 ENSG00000103534 chr16:19479490-19479490;C/A missense_variant False TMC5@p.E378D 1 0.604651163 ENSG00000103534 chr16:19460320-19460320;G/T missense_variant False TMC5@p.A853S 1 0.472222222 ENSG00000103534 chr16:19487310-19487310;G/T missense_variant False TMC4@p.S682C 1 0.06557377 ENSG00000167608 chr19:54160492-54160492;G/C missense_variant False TMC4@p.R700Q 1 0.112280702 ENSG00000167608 chr19:54160346-54160346;C/T missense_variant False TMC4@p.K471E 1 0.35483871 ENSG00000167608 chr19:54163044-54163044;T/C missense_variant False TMC4@p.D111N 1 0.108695652 ENSG00000167608 chr19:54169641-54169641;C/T missense_variant False TMC2@p.E420Q 1 0.566666667 ENSG00000149488 chr20:2602146-2602146;G/C missense_variant False TMC4@p.A146V 1 0.096153846 ENSG00000167608 chr19:54169535-54169535;G/A missense_variant False TMC3@p.R926Q 1 0.316666667 ENSG00000188869 chr15:81332945-81332945;C/T missense_variant False TMC3@p.E734Q 1 0.035353535 ENSG00000188869 chr15:81336612-81336612;C/G missense_variant False TMC2@p.S247F 1 0.438202247 ENSG00000149488 chr20:2579962-2579962;C/T missense_variant False TMC2@p.G145V 1 0.438095238 ENSG00000149488 chr20:2561890-2561890;G/T missense_variant False TMC2@p.F694L 1 0.474358974 ENSG00000149488 chr20:2617213-2617213;C/A missense_variant False TMC5@p.L871V 1 0.136986301 ENSG00000103534 chr16:19490432-19490432;C/G missense_variant False TMC5@p.Q232E 1 0.409090909 ENSG00000103534 chr16:19440732-19440732;C/G missense_variant False TMC5@p.Q475E 1 0.173913043 ENSG00000103534 chr16:19463962-19463962;C/G missense_variant False TMC5@p.S227G 1 0.366197183 ENSG00000103534 chr16:19440717-19440717;A/G missense_variant False TMC6@p.F552L 1 0.111111111 ENSG00000141524 chr17:78120712-78120712;G/T missense_variant False TMC6@p.F723L 1 0.368421053 ENSG00000141524 chr17:78117497-78117497;G/C missense_variant False TMC6@p.L37V 1 0.541666667 ENSG00000141524 chr17:78126596-78126596;G/C missense_variant False TMC7@p.R136P 1 0.212121212 ENSG00000170537 chr16:19016545-19016545;G/C missense_variant False TMC7@p.S628L 1 0.472222222 ENSG00000170537 chr16:19056553-19056553;C/T missense_variant False TMC7@p.S664F 1 0.314285714 ENSG00000170537 chr16:19056661-19056661;C/T missense_variant False TMC8@p.E638K 1 0.631578947 ENSG00000167895 chr17:78140843-78140843;G/A missense_variant False TMC8@p.E652Q 1 0.078431373 ENSG00000167895 chr17:78140885-78140885;G/C missense_variant False TMC8@p.S197F 1 0.138686131 ENSG00000167895 chr17:78133464-78133464;C/T missense_variant False TMC8@p.Y205F 1 0.093959732 ENSG00000167895 chr17:78133488-78133488;A/T missense_variant False TMCC1@p.A373V 1 0.1 ENSG00000172765 chr3:129670723-129670723;G/A missense_variant False TMCC1@p.D384N 1 0.253164557 ENSG00000172765 chr3:129670691-129670691;C/T missense_variant False TMCC1@p.L508S 1 0.136363636 ENSG00000172765 chr3:129655092-129655092;A/G missense_variant False TMC2@p.E488K 1 0.09 ENSG00000149488 chr20:2610467-2610467;G/A missense_variant False TMC2@p.D526N 1 0.136363636 ENSG00000149488 chr20:2610581-2610581;G/A missense_variant False TMCC1@p.R370K 1 0.113636364 ENSG00000172765 chr3:129670732-129670732;C/T missense_variant False TM9SF3@p.R249K 1 0.341463415 ENSG00000077147 chr10:96552974-96552974;C/T missense_variant False TM9SF4@p.E217K 1 0.186046512 ENSG00000101337 chr20:32143102-32143102;G/A missense_variant False TM9SF4@p.E127K 1 0.145985401 ENSG00000101337 chr20:32141646-32141646;G/A missense_variant False TM9SF4@p.E116K 1 0.062745098 ENSG00000101337 chr20:32141613-32141613;G/A missense_variant False TM9SF4@p.D478N 1 0.373239437 ENSG00000101337 chr20:32157896-32157896;G/A missense_variant False TM9SF3@p.Y60C 1 0.388888889 ENSG00000077147 chr10:96576753-96576753;T/C missense_variant False TM9SF3@p.Y58C 1 0.206349206 ENSG00000077147 chr10:96576759-96576759;T/C missense_variant False TM9SF3@p.Q548E 1 0.243243243 ENSG00000077147 chr10:96527273-96527273;G/C missense_variant False TMC1@p.S697L 1 0.052023121 ENSG00000165091 chr9:72826955-72826955;C/T missense_variant False TM9SF3@p.E39Q 1 0.263157895 ENSG00000077147 chr10:96576817-96576817;C/G missense_variant False TM9SF2@p.N306T 1 0.108695652 ENSG00000125304 chr13:99541567-99541567;A/C missense_variant False TM9SF2@p.G102R 1 0.323809524 ENSG00000125304 chr13:99520100-99520100;G/A missense_variant False TM9SF2@p.E49K 1 0.492537313 ENSG00000125304 chr13:99501751-99501751;G/A missense_variant False TM9SF2@p.E134K 1 0.411764706 ENSG00000125304 chr13:99529533-99529533;G/A missense_variant False TM7SF3@p.Y197F 1 0.428571429 ENSG00000064115 chr12:26995337-26995337;T/A missense_variant False TM9SF4@p.E57K 1 0.701298701 ENSG00000101337 chr20:32136113-32136113;G/A missense_variant False TM9SF4@p.E74D 1 0.641509434 ENSG00000101337 chr20:32136166-32136166;G/C missense_variant False TM9SF4@p.H200Y 1 0.217391304 ENSG00000101337 chr20:32143051-32143051;C/T missense_variant False TM9SF4@p.K307N 1 0.266666667 ENSG00000101337 chr20:32146822-32146822;G/C missense_variant False TM9SF4@p.L146Rfs*4 1 0.123893805 ENSG00000101337 chr20:32141802-32141815;GCTCTACTCCAACC/- frameshift_variant False TM9SF4@p.M342I 1 0.15 ENSG00000101337 chr20:32149705-32149705;G/C missense_variant False TM9SF4@p.Q65H 1 0.109090909 ENSG00000101337 chr20:32136139-32136139;G/C missense_variant False TM9SF4@p.R375Q 1 0.107438017 ENSG00000101337 chr20:32150658-32150658;G/A missense_variant False TMBIM4@p.H203Y 1 0.183673469 ENSG00000155957 chr12:66138070-66138070;G/A missense_variant False TMBIM4@p.I215V 1 0.302631579 ENSG00000155957 chr12:66138034-66138034;T/C missense_variant False TMBIM6@p.G100D 1 0.398907104 ENSG00000139644 chr12:49758239-49758239;G/A missense_variant False TMBIM6@p.H76Y 1 0.122727273 ENSG00000139644 chr12:49755695-49755695;C/T missense_variant False TMC1@p.E118Q 1 0.130434783 ENSG00000165091 chr9:72700633-72700633;G/C missense_variant False TMC1@p.G267A 1 0.094170404 ENSG00000165091 chr9:72772471-72772471;G/C missense_variant False TMC1@p.L450F 1 0.210144928 ENSG00000165091 chr9:72792009-72792009;C/T missense_variant False TMC1@p.R264Q 1 0.134615385 ENSG00000165091 chr9:72772462-72772462;G/A missense_variant False TMC1@p.R46K 1 0.269230769 ENSG00000165091 chr9:72694615-72694615;G/A missense_variant False TMCC1@p.R110Q 1 0.326923077 ENSG00000172765 chr3:129828050-129828050;C/T missense_variant False TMCC1@p.S424C 1 0.191666667 ENSG00000172765 chr3:129670570-129670570;G/C missense_variant False TMEM109@p.E224Q 1 0.258064516 ENSG00000110108 chr11:60922103-60922103;G/C missense_variant False TMED8@p.L317V 1 0.318518519 ENSG00000100580 chr14:77341800-77341800;G/C missense_variant False TMEFF2@p.E113K 1 0.325581395 ENSG00000144339 chr2:192184429-192184429;C/T missense_variant False TMEFF2@p.D203N 1 0.353658537 ENSG00000144339 chr2:191999138-191999138;C/T missense_variant False TMEFF1@p.S293F 1 0.114754098 ENSG00000241697 chr9:100561499-100561499;C/T missense_variant False TMEFF1@p.Q119E 1 0.096774194 ENSG00000241697 chr9:100509053-100509053;C/G missense_variant False TMEFF1@p.E178K 1 0.395833333 ENSG00000241697 chr9:100516743-100516743;G/A missense_variant False TMED9@p.R13Gfs*2 1 0.4 ENSG00000184840 chr5:177592251-177592267;CGGCCCGGAACCGGGCT/- frameshift_variant False TMED7@p.S213L 1 0.333333333 ENSG00000134970 chr5:115616246-115616246;G/A missense_variant False TMED6@p.G64E 1 0.346153846 ENSG00000157315 chr16:69351563-69351563;C/T missense_variant False TMED7@p.R221H 1 0.3 ENSG00000134970 chr5:115616222-115616222;C/T missense_variant False TMED7@p.R176Q 1 0.259259259 ENSG00000134970 chr5:115616357-115616357;C/T missense_variant False TMED7@p.E40K 1 0.282051282 ENSG00000134970 chr5:115625675-115625675;C/T missense_variant False TMED7-TICAM2@p.L269V 1 0.147435897 ENSG00000251201 chr5:115580959-115580959;G/C missense_variant False TMED6@p.S30C 1 0.225 ENSG00000157315 chr16:69351665-69351665;G/C missense_variant False TMED6@p.S215C 1 0.175 ENSG00000157315 chr16:69343486-69343486;G/C missense_variant False TMEFF2@p.E267K 1 0.821917808 ENSG00000144339 chr2:191956325-191956325;C/T missense_variant False TMEFF2@p.S105Y 1 0.137254902 ENSG00000144339 chr2:192184452-192184452;G/T missense_variant False TMEFF2@p.S212L 1 0.854545455 ENSG00000144339 chr2:191999110-191999110;G/A missense_variant False TMEFF2@p.S288T 1 0.125 ENSG00000144339 chr2:191956262-191956262;A/T missense_variant False TMEM100@p.P13S 1 0.130434783 ENSG00000166292 chr17:55721034-55721034;G/A missense_variant False TMEM101@p.R112H 1 0.5 ENSG00000091947 chr17:44013139-44013139;C/T missense_variant False TMEM102@p.E96Q 1 0.542857143 ENSG00000181284 chr17:7436265-7436265;G/C missense_variant False TMEM104@p.V26A 1 0.496815287 ENSG00000109066 chr17:74785513-74785513;T/C missense_variant False TMEM106A@p.I120V 1 0.164383562 ENSG00000184988 chr17:43215870-43215870;A/G missense_variant False TMEM106C@p.D242Y 1 0.113402062 ENSG00000134291 chr12:47968200-47968200;G/T missense_variant False TMEM106C@p.E32V 1 0.183673469 ENSG00000134291 chr12:47964331-47964331;A/T missense_variant False TMEM106C@p.E33K 1 0.375 ENSG00000134291 chr12:47964333-47964333;G/A missense_variant False TMEM106C@p.Q128L 1 0.184931507 ENSG00000134291 chr12:47965969-47965969;A/T missense_variant False TMEM106C@p.Q4K 1 0.5 ENSG00000134291 chr12:47964246-47964246;C/A missense_variant False TMEM107@p.L39V 1 0.2625 ENSG00000179029 chr17:8175999-8175999;G/C missense_variant False TMEM108@p.H55Y 1 0.383561644 ENSG00000144868 chr3:133379874-133379874;C/T missense_variant False TMEM108@p.R542H 1 0.293103448 ENSG00000144868 chr3:133395883-133395883;G/A missense_variant False TMED6@p.Q117E 1 0.312101911 ENSG00000157315 chr16:69347928-69347928;G/C missense_variant False TMED6@p.F222V 1 0.072164948 ENSG00000157315 chr16:69343466-69343466;A/C missense_variant False TMCC2@p.A135T 1 0.327272727 ENSG00000133069 chr1:205241700-205241700;G/A missense_variant False TMCC3@p.R204G 1 0.137096774 ENSG00000057704 chr12:94582007-94582007;T/C missense_variant False TMCO3@p.L61F 1 0.24 ENSG00000150403 chr13:113495762-113495762;C/T missense_variant False TMCO3@p.L438V 1 0.12962963 ENSG00000150403 chr13:113520702-113520702;C/G missense_variant False TMCO3@p.L334V 1 0.221052632 ENSG00000150403 chr13:113503550-113503550;C/G missense_variant False TMCO3@p.E223K 1 0.054945055 ENSG00000150403 chr13:113500000-113500000;G/A missense_variant False TMCO1@p.M52I 1 0.410714286 ENSG00000143183 chr1:165768749-165768749;C/T missense_variant False TMCO1@p.K88N 1 0.116666667 ENSG00000143183 chr1:165768229-165768229;C/G missense_variant False TMCC3@p.M440I 1 0.268292683 ENSG00000057704 chr12:94571549-94571549;C/T missense_variant False TMED5@p.P19S 1 0.476190476 ENSG00000117500 chr1:93180188-93180188;G/A missense_variant False TMCC3@p.H222Y 1 0.306930693 ENSG00000057704 chr12:94581953-94581953;G/A missense_variant False TMCC3@p.D31Y 1 0.463917526 ENSG00000057704 chr12:94582526-94582526;C/A missense_variant False TMCC2@p.S411C 1 0.061728395 ENSG00000133069 chr1:205269434-205269434;C/G missense_variant False TMCC2@p.R156C 1 0.34375 ENSG00000133069 chr1:205241763-205241763;C/T missense_variant False TMCC2@p.P218S 1 0.294117647 ENSG00000133069 chr1:205241949-205241949;C/T missense_variant False TMCC2@p.G113S 1 0.4375 ENSG00000133069 chr1:205241634-205241634;G/A missense_variant False TMCO3@p.R666T 1 0.4625 ENSG00000150403 chr13:113549501-113549501;G/C missense_variant False TMCO3@p.S58L 1 0.4 ENSG00000150403 chr13:113495754-113495754;C/T missense_variant False TMCO3@p.V3M 1 0.224489796 ENSG00000150403 chr13:113495588-113495588;G/A missense_variant False TMCO4@p.E307K 1 0.558823529 ENSG00000162542 chr1:19740900-19740900;C/T missense_variant False TMCO4@p.E94K 1 0.162790698 ENSG00000162542 chr1:19771382-19771382;C/T missense_variant False TMCO4@p.G24E 1 0.304347826 ENSG00000162542 chr1:19780688-19780688;C/T missense_variant False TMCO4@p.I279V 1 0.257352941 ENSG00000162542 chr1:19745574-19745574;T/C missense_variant False TMCO4@p.M67I 1 0.642857143 ENSG00000162542 chr1:19771461-19771461;C/A missense_variant False TMCO4@p.R391W 1 0.357142857 ENSG00000162542 chr1:19739832-19739832;G/A missense_variant False TMCO4@p.S499C 1 0.135135135 ENSG00000162542 chr1:19694438-19694438;G/C missense_variant False TMCO5A@p.I224Dfs*58 1 0.34375 ENSG00000166069 chr15:37947691-37947692;-/A frameshift_variant False TMCO6@p.L346V 1 0.077922078 ENSG00000113119 chr5:140643897-140643897;C/G missense_variant False TMED1@p.E144K 1 0.106666667 ENSG00000099203 chr19:10834969-10834969;C/T missense_variant False TMED1@p.E191Q 1 0.11627907 ENSG00000099203 chr19:10833108-10833108;C/G missense_variant False TMED2@p.D56G 1 0.302631579 ENSG00000086598 chr12:123584803-123584803;A/G missense_variant False TMED4@p.K150R 1 0.285714286 ENSG00000158604 chr7:44581178-44581178;T/C missense_variant False TMED4@p.R120M 1 0.325396825 ENSG00000158604 chr7:44581477-44581477;C/A missense_variant False TBX2@p.E365Q 1 0.333333333 ENSG00000121068 chr17:61405243-61405243;G/C missense_variant False TBX2@p.D287N 1 0.291666667 ENSG00000121068 chr17:61404469-61404469;G/A missense_variant False TBX2@p.D241G 1 0.282258065 ENSG00000121068 chr17:61403119-61403119;A/G missense_variant False STOML3@p.E259K 1 0.103092784 ENSG00000133115 chr13:38966926-38966926;C/T missense_variant False STON1@p.G538V 1 0.411764706 ENSG00000243244 chr2:48582246-48582246;G/T missense_variant False STON1-GTF2A1L@p.L978V 1 0.357894737 ENSG00000068781 chr2:48646884-48646884;C/G missense_variant False STON1-GTF2A1L@p.L836Ffs*10 1 0.270833333 ENSG00000068781 chr2:48646457-48646457;C/- frameshift_variant False STON1-GTF2A1L@p.I1025M 1 0.324675325 ENSG00000068781 chr2:48647027-48647027;A/G missense_variant False STON1-GTF2A1L@p.H988D 1 0.220779221 ENSG00000068781 chr2:48646914-48646914;C/G missense_variant False STOML3@p.Y120F 1 0.441860465 ENSG00000133115 chr13:38970342-38970342;T/A missense_variant False STOML2@p.R57Q 1 0.26119403 ENSG00000165283 chr9:35102699-35102699;C/T missense_variant False STON1@p.K489E 1 0.566666667 ENSG00000243244 chr2:48582098-48582098;A/G missense_variant False STOML2@p.P25A 1 0.292682927 ENSG00000165283 chr9:35102796-35102796;G/C missense_variant False STOML2@p.G8D 1 0.432432432 ENSG00000165283 chr9:35103072-35103072;C/T missense_variant False STOML2@p.A285T 1 0.094594595 ENSG00000165283 chr9:35100678-35100678;C/T missense_variant False STOML1@p.R336Q 1 0.388888889 ENSG00000067221 chr15:73984127-73984127;C/T missense_variant False STOML1@p.R167H 1 0.558441558 ENSG00000067221 chr15:73988693-73988693;C/T missense_variant False STOML1@p.Q279E 1 0.557377049 ENSG00000067221 chr15:73984827-73984827;G/C missense_variant False STON1@p.K204Q 1 0.266666667 ENSG00000243244 chr2:48581243-48581243;A/C missense_variant False STON1@p.Q616E 1 0.478873239 ENSG00000243244 chr2:48582479-48582479;C/G missense_variant False STX12@p.R20P 1 0.5 ENSG00000117758 chr1:27773366-27773366;G/C missense_variant False STON2@p.S353F 1 0.057971014 ENSG00000140022 chr14:81278424-81278424;G/A missense_variant False STOX1@p.L272F 1 0.26 ENSG00000165730 chr10:68884610-68884610;C/T missense_variant False STOX1@p.I566T 1 0.186813187 ENSG00000165730 chr10:68885493-68885493;T/C missense_variant False STOX1@p.E835K 1 0.302631579 ENSG00000165730 chr10:68886299-68886299;G/A missense_variant False STOX1@p.E450D 1 0.426966292 ENSG00000165730 chr10:68885146-68885146;G/T missense_variant False STON2@p.S66W 1 0.245614035 ENSG00000140022 chr14:81396070-81396070;G/C missense_variant False STON2@p.S436C 1 0.28 ENSG00000140022 chr14:81278175-81278175;G/C missense_variant False STON2@p.R669H 1 0.421052632 ENSG00000140022 chr14:81277476-81277476;C/T missense_variant False STON1@p.Q661K 1 0.418604651 ENSG00000243244 chr2:48591703-48591703;C/A missense_variant False STON2@p.L720M 1 0.122222222 ENSG00000140022 chr14:81277324-81277324;G/T missense_variant False STON2@p.E493K 1 0.302325581 ENSG00000140022 chr14:81278005-81278005;C/T missense_variant False STON1@p.T11N 1 0.087378641 ENSG00000243244 chr2:48580665-48580665;C/A missense_variant False STON1@p.S564F 1 0.278846154 ENSG00000243244 chr2:48582324-48582324;C/T missense_variant False STON1@p.S260C 1 0.538461538 ENSG00000243244 chr2:48581412-48581412;C/G missense_variant False STON1@p.S24L 1 0.157142857 ENSG00000243244 chr2:48580704-48580704;C/T missense_variant False STOML1@p.F316L 1 0.142857143 ENSG00000067221 chr15:73984714-73984714;G/T missense_variant False STOM@p.L85V 1 0.454545455 ENSG00000148175 chr9:121353288-121353288;G/C missense_variant False STOM@p.L178V 1 0.666666667 ENSG00000148175 chr9:121348143-121348143;G/C missense_variant False STK39@p.M138L 1 0.133333333 ENSG00000198648 chr2:168167317-168167317;T/A missense_variant False STK3@p.E264K 1 0.085365854 ENSG00000104375 chr8:98596064-98596064;C/T missense_variant False STK3@p.D479H 1 0.442307692 ENSG00000104375 chr8:98455883-98455883;C/G missense_variant False STK3@p.D427H 1 0.367924528 ENSG00000104375 chr8:98526780-98526780;C/G missense_variant False STK39@p.S430F 1 0.686567164 ENSG00000198648 chr2:168065335-168065335;G/A missense_variant False STK39@p.R469Q 1 0.19047619 ENSG00000198648 chr2:168017066-168017066;C/T missense_variant False STK39@p.P322A 1 0.111111111 ENSG00000198648 chr2:168138098-168138098;G/C missense_variant False STK39@p.D181N 1 0.313432836 ENSG00000198648 chr2:168163770-168163770;C/T missense_variant False STOM@p.A224D 1 0.444444444 ENSG00000148175 chr9:121341398-121341398;G/T missense_variant False STK38L@p.R98T 1 0.126984127 ENSG00000211455 chr12:27308445-27308445;G/C missense_variant False STK38L@p.R105W 1 0.487804878 ENSG00000211455 chr12:27309117-27309117;C/T missense_variant False STK38L@p.Q329R 1 0.333333333 ENSG00000211455 chr12:27317926-27317926;A/G missense_variant False STK38L@p.K239N 1 0.278688525 ENSG00000211455 chr12:27315059-27315059;G/C missense_variant False STK38L@p.E56Q 1 0.384615385 ENSG00000211455 chr12:27302168-27302168;G/C missense_variant False STK38L@p.E352K 1 0.166666667 ENSG00000211455 chr12:27317994-27317994;G/A missense_variant False STK3@p.E35K 1 0.333333333 ENSG00000104375 chr8:98774743-98774743;C/T missense_variant False STK3@p.R338W 1 0.21875 ENSG00000104375 chr8:98548098-98548098;G/A missense_variant False STK3@p.S106C 1 0.15 ENSG00000104375 chr8:98749310-98749310;G/C missense_variant False STK40@p.A54V 1 0.310344828 ENSG00000196182 chr1:36358774-36358774;G/A missense_variant False STK4@p.E219K 1 0.21 ENSG00000101109 chr20:44995219-44995219;G/A missense_variant False STK4@p.H84Y 1 0.142857143 ENSG00000101109 chr20:44981833-44981833;C/T missense_variant False STK4@p.K135N 1 0.363636364 ENSG00000101109 chr20:44987176-44987176;G/T missense_variant False STK4@p.L396V 1 0.294117647 ENSG00000101109 chr20:45025011-45025011;C/G missense_variant False STK4@p.Q60H 1 0.295454545 ENSG00000101109 chr20:44978506-44978506;A/T missense_variant False STKLD1@p.A566V 1 0.52688172 ENSG00000198870 chr9:133404013-133404013;C/T missense_variant False STKLD1@p.F270L 1 0.137254902 ENSG00000198870 chr9:133395707-133395707;C/A missense_variant False STKLD1@p.P410S 1 0.264150943 ENSG00000198870 chr9:133401767-133401767;C/T missense_variant False STMN2@p.M12V 1 0.285714286 ENSG00000104435 chr8:79636816-79636816;A/G missense_variant False STMN3@p.E90Q 1 0.285714286 ENSG00000197457 chr20:63643779-63643779;C/G missense_variant False STMN4@p.E154K 1 0.315789474 ENSG00000015592 chr8:27240021-27240021;C/T missense_variant False STMN4@p.P14L 1 0.15 ENSG00000015592 chr8:27242465-27242465;G/A missense_variant False STN1@p.S234F 1 0.392857143 ENSG00000107960 chr10:103897600-103897600;G/A missense_variant False STOX1@p.R644Q 1 0.224137931 ENSG00000165730 chr10:68885727-68885727;G/A missense_variant False STOX2@p.E910K 1 0.222222222 ENSG00000173320 chr4:184017231-184017231;G/A missense_variant False STPG2@p.E151V 1 0.230769231 ENSG00000163116 chr4:98109241-98109241;T/A missense_variant False STRN@p.D309N 1 0.213333333 ENSG00000115808 chr2:36893904-36893904;C/T missense_variant False STS@p.Q257H 1 0.536585366 ENSG00000101846 chrX:7259737-7259737;G/C missense_variant False STS@p.H492N 1 0.073170732 ENSG00000101846 chrX:7349998-7349998;C/A missense_variant False STS@p.E520K 1 0.592592593 ENSG00000101846 chrX:7350082-7350082;G/A missense_variant False STRN@p.P402S 1 0.071428571 ENSG00000115808 chr2:36878010-36878010;G/A missense_variant False STRN@p.L176V 1 0.206666667 ENSG00000115808 chr2:36902717-36902717;G/C missense_variant False STRN@p.K333M 1 0.208333333 ENSG00000115808 chr2:36886760-36886760;T/A missense_variant False STRN4@p.S234W 1 0.233333333 ENSG00000090372 chr19:46733075-46733075;G/C missense_variant False STRN3@p.G138S 1 0.158536585 ENSG00000196792 chr14:30955668-30955668;C/T missense_variant False STRN4@p.L703V 1 0.154929577 ENSG00000090372 chr19:46720757-46720757;G/C missense_variant False STRN4@p.L135Vfs*81 1 0.209302326 ENSG00000090372 chr19:46738217-46738221;TTCAG/- frameshift_variant False STRN4@p.H590R 1 0.29245283 ENSG00000090372 chr19:46722947-46722947;T/C missense_variant False STRN4@p.E122Q 1 0.47826087 ENSG00000090372 chr19:46738807-46738807;C/G missense_variant False STRN3@p.S209L 1 0.291666667 ENSG00000196792 chr14:30947180-30947180;G/A missense_variant False STRN3@p.Q616P 1 0.612244898 ENSG00000196792 chr14:30906918-30906918;T/G missense_variant False STS@p.Q534H 1 0.608695652 ENSG00000101846 chrX:7350126-7350126;G/C missense_variant False STS@p.R569K 1 0.56 ENSG00000101846 chrX:7350230-7350230;G/A missense_variant False STT3A@p.D384N 1 0.435643564 ENSG00000134910 chr11:125611460-125611460;G/A missense_variant False STT3A@p.P658A 1 0.142857143 ENSG00000134910 chr11:125620019-125620019;C/G missense_variant False STT3A@p.S484C 1 0.046242775 ENSG00000134910 chr11:125613074-125613074;C/G missense_variant False STT3B@p.H117Y 1 0.073170732 ENSG00000163527 chr3:31576430-31576430;C/T missense_variant False STT3B@p.L302F 1 0.389830508 ENSG00000163527 chr3:31615133-31615133;A/T missense_variant False STT3B@p.M548I 1 0.1 ENSG00000163527 chr3:31623778-31623778;G/T missense_variant False STT3B@p.T741A 1 0.34 ENSG00000163527 chr3:31632968-31632968;A/G missense_variant False STUB1@p.D111H 1 0.294117647 ENSG00000103266 chr16:681323-681323;G/C missense_variant False STUB1@p.E179Q 1 0.247191011 ENSG00000103266 chr16:681803-681803;G/C missense_variant False STUB1@p.H266Y 1 0.453333333 ENSG00000103266 chr16:682373-682373;C/T missense_variant False STUM@p.D122E 1 0.227272727 ENSG00000203685 chr1:226596965-226596965;C/G missense_variant False STUM@p.M123V 1 0.055555556 ENSG00000203685 chr1:226596966-226596966;A/G missense_variant False STX10@p.I244M 1 0.4375 ENSG00000104915 chr19:13144428-13144428;G/C missense_variant False STX11@p.E98K 1 0.481481481 ENSG00000135604 chr6:144186919-144186919;G/A missense_variant False STX12@p.M47I 1 0.34375 ENSG00000117758 chr1:27789584-27789584;G/A missense_variant False STRN3@p.M278I 1 0.125 ENSG00000196792 chr14:30936507-30936507;C/T missense_variant False STRIP2@p.V797I 1 0.428571429 ENSG00000128578 chr7:129485713-129485713;G/A missense_variant False STPG2@p.E59Q 1 0.261261261 ENSG00000163116 chr4:98134394-98134394;C/G missense_variant False STRA8@p.H96N 1 0.212962963 ENSG00000146857 chr7:135242808-135242808;C/A missense_variant False STRADA@p.M220I 1 0.3125 ENSG00000266173 chr17:63707340-63707340;C/G missense_variant False STRADA@p.E80Q 1 0.2 ENSG00000266173 chr17:63713516-63713516;C/G missense_variant False STRADA@p.E271K 1 0.163498099 ENSG00000266173 chr17:63706682-63706682;C/T missense_variant False STRADA@p.D157H 1 0.142857143 ENSG00000266173 chr17:63710603-63710603;C/G missense_variant False STRA8@p.Q88R 1 0.069565217 ENSG00000146857 chr7:135242785-135242785;A/G missense_variant False STRA8@p.L330V 1 0.583333333 ENSG00000146857 chr7:135258487-135258487;T/G missense_variant False STRA8@p.F11I 1 0.105263158 ENSG00000146857 chr7:135232009-135232009;T/A missense_variant False STRIP2@p.L397V 1 0.4 ENSG00000128578 chr7:129458365-129458365;C/G missense_variant False STRA8@p.E46Q 1 0.213017751 ENSG00000146857 chr7:135240594-135240594;G/C missense_variant False STRA6@p.M421I 1 0.336538462 ENSG00000137868 chr15:74183893-74183893;C/T missense_variant False STRA6@p.H53Y 1 0.25 ENSG00000137868 chr15:74197775-74197775;G/A missense_variant False STRA6@p.E33K 1 0.454545455 ENSG00000137868 chr15:74202171-74202171;C/T missense_variant False STPG4@p.K151I 1 0.441860465 ENSG00000239605 chr2:47130208-47130208;T/A missense_variant False STPG4@p.A7P 1 0.4 ENSG00000239605 chr2:47155233-47155233;C/G missense_variant False STRADB@p.L148F 1 0.346153846 ENSG00000082146 chr2:201475638-201475638;G/C missense_variant False STRAP@p.D286N 1 0.186915888 ENSG00000023734 chr12:15899984-15899984;G/A missense_variant False STRAP@p.D70Y 1 0.596153846 ENSG00000023734 chr12:15883636-15883636;G/T missense_variant False STRAP@p.H209Y 1 0.455882353 ENSG00000023734 chr12:15895483-15895483;C/T missense_variant False STRBP@p.F552L 1 0.120481928 ENSG00000165209 chr9:123136158-123136158;G/C missense_variant False STRBP@p.H414N 1 0.092105263 ENSG00000165209 chr9:123146953-123146953;G/T missense_variant False STRBP@p.S333C 1 0.515873016 ENSG00000165209 chr9:123158059-123158059;G/C missense_variant False STRC@p.C161Y 1 0.109677419 ENSG00000242866 chr15:43617939-43617939;C/T missense_variant False STRC@p.E1630K 1 0.536585366 ENSG00000242866 chr15:43600639-43600639;C/T missense_variant False STRC@p.L1418V 1 0.379310345 ENSG00000242866 chr15:43604119-43604119;G/C missense_variant False STRC@p.L1538V 1 0.188679245 ENSG00000242866 chr15:43601485-43601485;G/C missense_variant False STRIP1@p.E572Q 1 0.375 ENSG00000143093 chr1:110049164-110049164;G/C missense_variant False STRIP1@p.R673W 1 0.508196721 ENSG00000143093 chr1:110051016-110051016;C/T missense_variant False STRIP2@p.D562H 1 0.136363636 ENSG00000128578 chr7:129464646-129464646;G/C missense_variant False STRIP2@p.D562N 1 0.12962963 ENSG00000128578 chr7:129464646-129464646;G/A missense_variant False STRIP2@p.E372K 1 0.206896552 ENSG00000128578 chr7:129458290-129458290;G/A missense_variant False STRIP2@p.I617M 1 0.23255814 ENSG00000128578 chr7:129467424-129467424;C/G missense_variant False STK38@p.Y331_V334delinsL 1 0.171717172 ENSG00000112079 chr6:36498439-36498447;CCTTCTTAT/- inframe_deletion False STK38@p.I95T 1 0.803149606 ENSG00000112079 chr6:36524363-36524363;A/G missense_variant False STK38@p.G112A 1 0.209876543 ENSG00000112079 chr6:36521789-36521789;C/G missense_variant False STEAP2@p.M490Nfs*37 1 0.162790698 ENSG00000157214 chr7:90232617-90232618;-/A frameshift_variant False STH@p.R44T 1 0.206349206 ENSG00000256762 chr17:45999410-45999410;G/C missense_variant False STEAP4@p.P261L 1 0.412698413 ENSG00000127954 chr7:88282843-88282843;G/A missense_variant False STEAP4@p.I224M 1 0.15625 ENSG00000127954 chr7:88282953-88282953;G/C missense_variant False STEAP3@p.E4D 1 0.186046512 ENSG00000115107 chr2:119245508-119245508;G/C missense_variant False STEAP3@p.E3K 1 0.147540984 ENSG00000115107 chr2:119245503-119245503;G/A missense_variant False STEAP2@p.S150L 1 0.23015873 ENSG00000157214 chr7:90225531-90225531;C/T missense_variant False STEAP2@p.L228Pfs*14 1 0.49122807 ENSG00000157214 chr7:90227150-90227151;-/T frameshift_variant False STC2@p.R44C 1 0.157407407 ENSG00000113739 chr5:173328064-173328064;G/A missense_variant False STEAP2@p.L141F 1 0.291044776 ENSG00000157214 chr7:90225505-90225505;G/C missense_variant False STEAP2@p.K11N 1 0.240601504 ENSG00000157214 chr7:90225115-90225115;G/C missense_variant False STEAP2@p.F311V 1 0.575757576 ENSG00000157214 chr7:90227409-90227409;T/G missense_variant False STEAP1@p.R40T 1 0.195121951 ENSG00000164647 chr7:90160839-90160839;G/C missense_variant False STEAP1@p.E54K 1 0.07239819 ENSG00000164647 chr7:90160880-90160880;G/A missense_variant False STEAP1@p.D56H 1 0.188940092 ENSG00000164647 chr7:90160886-90160886;G/C missense_variant False STIL@p.D631H 1 0.206703911 ENSG00000123473 chr1:47280567-47280567;C/G missense_variant False STIL@p.D670H 1 0.260869565 ENSG00000123473 chr1:47280450-47280450;C/G missense_variant False STIL@p.E358K 1 0.49122807 ENSG00000123473 chr1:47287612-47287612;C/T missense_variant False STIL@p.E451K 1 0.199152542 ENSG00000123473 chr1:47281107-47281107;C/T missense_variant False STIL@p.K1016N 1 0.811320755 ENSG00000123473 chr1:47260318-47260318;C/G missense_variant False STIL@p.L1128I 1 0.412371134 ENSG00000123473 chr1:47251618-47251618;G/T missense_variant False STIL@p.L118F 1 0.466666667 ENSG00000123473 chr1:47301662-47301662;G/A missense_variant False STIL@p.M1123I 1 0.081081081 ENSG00000123473 chr1:47251631-47251631;C/T missense_variant False STIL@p.N75Ifs*10 1 0.242857143 ENSG00000123473 chr1:47302275-47302275;T/- frameshift_variant False STIL@p.Q621R 1 0.324503311 ENSG00000123473 chr1:47280596-47280596;T/C missense_variant False STIL@p.S1181F 1 0.342857143 ENSG00000123473 chr1:47251458-47251458;G/A missense_variant False STIL@p.S1270L 1 0.533742331 ENSG00000123473 chr1:47251191-47251191;G/A missense_variant False STIL@p.S484F 1 0.413793103 ENSG00000123473 chr1:47281007-47281007;G/A missense_variant False STIL@p.Y314H 1 0.164179104 ENSG00000123473 chr1:47289518-47289518;A/G missense_variant False STIM1@p.A230P 1 0.365384615 ENSG00000167323 chr11:4070100-4070100;G/C missense_variant False STIM1@p.Q539E 1 0.324324324 ENSG00000167323 chr11:4091355-4091355;C/G missense_variant False STIM2@p.R433C 1 0.133333333 ENSG00000109689 chr4:27008810-27008810;C/T missense_variant False STEAP1@p.D279H 1 0.081081081 ENSG00000164647 chr7:90164549-90164549;G/C missense_variant False STC2@p.D144N 1 0.444444444 ENSG00000113739 chr5:173323295-173323295;C/T missense_variant False STIMATE@p.I161M 1 0.089285714 ENSG00000213533 chr3:52844886-52844886;G/C missense_variant False STAT4@p.R508H 1 0.196721311 ENSG00000138378 chr2:191036211-191036211;C/T missense_variant False STAT6@p.F99L 1 0.115646259 ENSG00000166888 chr12:57107273-57107273;G/C missense_variant False STAT6@p.D233N 1 0.435897436 ENSG00000166888 chr12:57105583-57105583;C/T missense_variant False STAT5B@p.E39Q 1 0.469565217 ENSG00000173757 chr17:42232013-42232013;C/G missense_variant False STAT5B@p.E395D 1 0.219178082 ENSG00000173757 chr17:42217449-42217449;C/G missense_variant False STAT5A@p.V362_N365del 1 0.128205128 ENSG00000126561 chr17:42301364-42301375;TGAACGTGCACA/- inframe_deletion False STAT5A@p.Q206H 1 0.060606061 ENSG00000126561 chr17:42299818-42299818;G/C missense_variant False STAT4@p.L79F 1 0.107142857 ENSG00000138378 chr2:191146649-191146649;C/G missense_variant False STC2@p.A221V 1 0.303030303 ENSG00000113739 chr5:173318094-173318094;G/A missense_variant False STAT4@p.I150V 1 0.360655738 ENSG00000138378 chr2:191073115-191073115;T/C missense_variant False STAT4@p.G412A 1 0.264367816 ENSG00000138378 chr2:191054506-191054506;C/G missense_variant False STAT4@p.E432Q 1 0.854545455 ENSG00000138378 chr2:191041106-191041106;C/G missense_variant False STAT4@p.E222Q 1 0.223404255 ENSG00000138378 chr2:191064925-191064925;C/G missense_variant False STAT4@p.E170D 1 0.348837209 ENSG00000138378 chr2:191069727-191069727;T/G missense_variant False STAT4@p.D664H 1 0.311258278 ENSG00000138378 chr2:191033012-191033012;C/G missense_variant False STAT6@p.K450del 1 0.275 ENSG00000166888 chr12:57102451-57102453;TCT/- inframe_deletion False STAT6@p.S54N 1 0.113207547 ENSG00000166888 chr12:57107699-57107699;C/T missense_variant False STAT6@p.S566T 1 0.351351351 ENSG00000166888 chr12:57099815-57099815;A/T missense_variant False STAT6@p.S67L 1 0.155555556 ENSG00000166888 chr12:57107660-57107660;G/A missense_variant False STAU1@p.E163V 1 0.096774194 ENSG00000124214 chr20:49151604-49151604;T/A missense_variant False STAU1@p.G416A 1 0.303278689 ENSG00000124214 chr20:49118039-49118039;C/G missense_variant False STAU1@p.K337N 1 0.695652174 ENSG00000124214 chr20:49120084-49120084;C/G missense_variant False STAU1@p.P95R 1 0.351851852 ENSG00000124214 chr20:49153993-49153993;G/C missense_variant False STAU1@p.Q432E 1 0.271428571 ENSG00000124214 chr20:49117992-49117992;G/C missense_variant False STAU1@p.R498K 1 0.106382979 ENSG00000124214 chr20:49117793-49117793;C/T missense_variant False STAU1@p.S70R 1 0.06122449 ENSG00000124214 chr20:49154067-49154067;G/C missense_variant False STAU2@p.E271Q 1 0.222222222 ENSG00000040341 chr8:73613824-73613824;C/G missense_variant False STAU2@p.E478K 1 0.145454545 ENSG00000040341 chr8:73552110-73552110;C/T missense_variant False STAU2@p.F40L 1 0.39516129 ENSG00000040341 chr8:73688808-73688808;G/T missense_variant False STAU2@p.S395R 1 0.096 ENSG00000040341 chr8:73582807-73582807;A/T missense_variant False STBD1@p.D35N 1 0.3 ENSG00000118804 chr4:76306872-76306872;G/A missense_variant False STBD1@p.S141L 1 0.177777778 ENSG00000118804 chr4:76309345-76309345;C/T missense_variant False STIMATE@p.G140C 1 0.772727273 ENSG00000213533 chr3:52849801-52849801;C/A missense_variant False STING1@p.S355F 1 0.545454545 ENSG00000184584 chr5:139476337-139476337;G/A missense_variant False STK38@p.E186K 1 0.053097345 ENSG00000112079 chr6:36515451-36515451;C/T missense_variant False STK32A@p.Q176H 1 0.163265306 ENSG00000169302 chr5:147351120-147351120;G/T missense_variant False STK32B@p.R386L 1 0.238095238 ENSG00000152953 chr4:5498995-5498995;G/T missense_variant False STK32B@p.R338K 1 0.6 ENSG00000152953 chr4:5466806-5466806;G/A missense_variant False STK32B@p.Q114L 1 0.238095238 ENSG00000152953 chr4:5331300-5331300;A/T missense_variant False STK32B@p.K31R 1 0.065789474 ENSG00000152953 chr4:5139944-5139944;A/G missense_variant False STK32B@p.E368K 1 0.274193548 ENSG00000152953 chr4:5468066-5468066;G/A missense_variant False STK32A@p.S270F 1 0.26 ENSG00000169302 chr5:147373200-147373200;C/T missense_variant False STK32A@p.L378I 1 0.395833333 ENSG00000169302 chr5:147383924-147383924;C/A missense_variant False STK31@p.E665Q 1 0.283783784 ENSG00000196335 chr7:23781446-23781446;G/C missense_variant False STK32A@p.E262K 1 0.181318681 ENSG00000169302 chr5:147373175-147373175;G/A missense_variant False STK31@p.R882Q 1 0.450704225 ENSG00000196335 chr7:23790831-23790831;G/A missense_variant False STK31@p.Q230H 1 0.216666667 ENSG00000196335 chr7:23735744-23735744;A/T missense_variant False STK31@p.N859T 1 0.421052632 ENSG00000196335 chr7:23788068-23788068;A/C missense_variant False STK31@p.N652Y 1 0.377358491 ENSG00000196335 chr7:23772267-23772267;A/T missense_variant False STK31@p.I58M 1 0.473684211 ENSG00000196335 chr7:23717504-23717504;C/G missense_variant False STK32C@p.R97W 1 0.290697674 ENSG00000165752 chr10:132245929-132245929;G/A missense_variant False STK33@p.I115M 1 0.2 ENSG00000130413 chr11:8464817-8464817;G/C missense_variant False STK33@p.S154I 1 0.215686275 ENSG00000130413 chr11:8461902-8461902;C/A missense_variant False STK35@p.E242K 1 0.3125 ENSG00000125834 chr20:2103197-2103197;G/A missense_variant False STK35@p.E522Q 1 0.312 ENSG00000125834 chr20:2117337-2117337;G/C missense_variant False STK36@p.A339D 1 0.15625 ENSG00000163482 chr2:218679960-218679960;C/A missense_variant False STK36@p.E84K 1 0.766666667 ENSG00000163482 chr2:218673903-218673903;G/A missense_variant False STK36@p.E893K 1 0.137651822 ENSG00000163482 chr2:218697129-218697129;G/A missense_variant False STK36@p.M309I 1 0.290909091 ENSG00000163482 chr2:218679708-218679708;G/T missense_variant False STK36@p.Q451H 1 0.289855072 ENSG00000163482 chr2:218685201-218685201;G/C missense_variant False STK36@p.Q558E 1 1.0 ENSG00000163482 chr2:218690463-218690463;C/G missense_variant False STK36@p.Q812E 1 0.196721311 ENSG00000163482 chr2:218694558-218694558;C/G missense_variant False STK36@p.S369L 1 0.306451613 ENSG00000163482 chr2:218680050-218680050;C/T missense_variant False STK36@p.S578C 1 0.928571429 ENSG00000163482 chr2:218690524-218690524;C/G missense_variant False STK36@p.S798F 1 0.048387097 ENSG00000163482 chr2:218694320-218694320;C/T missense_variant False STK38@p.D212N 1 0.115942029 ENSG00000112079 chr6:36515373-36515373;C/T missense_variant False STK38@p.E129G 1 0.220183486 ENSG00000112079 chr6:36521738-36521738;T/C missense_variant False STK31@p.G434R 1 0.333333333 ENSG00000196335 chr7:23762807-23762807;G/A missense_variant False STK31@p.E309K 1 0.212765957 ENSG00000196335 chr7:23736986-23736986;G/A missense_variant False STIP1@p.E418K 1 0.25 ENSG00000168439 chr11:64202882-64202882;G/A missense_variant False STK10@p.R18S 1 0.604651163 ENSG00000072786 chr5:172187989-172187989;T/G missense_variant False STK11IP@p.S941F 1 0.534883721 ENSG00000144589 chr2:219614499-219614499;C/T missense_variant False STK11IP@p.S389C 1 0.1875 ENSG00000144589 chr2:219607084-219607084;C/G missense_variant False STK11IP@p.R669K 1 0.192307692 ENSG00000144589 chr2:219609442-219609442;G/A missense_variant False STK11IP@p.Q764E 1 0.538461538 ENSG00000144589 chr2:219611789-219611789;C/G missense_variant False STK11IP@p.L444R 1 0.210526316 ENSG00000144589 chr2:219608158-219608158;T/G missense_variant False STK10@p.R618C 1 0.430769231 ENSG00000072786 chr5:172082463-172082463;G/A missense_variant False STK10@p.R156Q 1 0.457142857 ENSG00000072786 chr5:172117534-172117534;C/T missense_variant False STK31@p.A1015G 1 0.242857143 ENSG00000196335 chr7:23832350-23832350;C/G missense_variant False STK10@p.Q930H 1 0.28 ENSG00000072786 chr5:172044999-172044999;C/G missense_variant False STK10@p.L97V 1 0.595959596 ENSG00000072786 chr5:172156656-172156656;G/C missense_variant False STK10@p.K272_L275del 1 0.158730159 ENSG00000072786 chr5:172105701-172105712;CAGGGCTATCTT/- inframe_deletion False STIP1@p.M511V 1 0.175 ENSG00000168439 chr11:64203594-64203594;A/G missense_variant False STIP1@p.I507V 1 0.066666667 ENSG00000168439 chr11:64203582-64203582;A/G missense_variant False STIP1@p.I387M 1 0.146666667 ENSG00000168439 chr11:64200209-64200209;C/G missense_variant False STK16@p.M170I 1 0.169398907 ENSG00000115661 chr2:219247484-219247484;G/C missense_variant False STK17A@p.E222K 1 0.213333333 ENSG00000164543 chr7:43619696-43619696;G/A missense_variant False STK17A@p.G250R 1 0.306306306 ENSG00000164543 chr7:43623716-43623716;G/A missense_variant False STK17A@p.P119R 1 0.092307692 ENSG00000164543 chr7:43596050-43596050;C/G missense_variant False STK17B@p.E117K 1 0.375 ENSG00000081320 chr2:196146042-196146042;C/T missense_variant False STK17B@p.S248C 1 0.382113821 ENSG00000081320 chr2:196139713-196139713;G/C missense_variant False STK17B@p.S311F 1 0.5 ENSG00000081320 chr2:196137634-196137634;G/A missense_variant False STK19@p.D181H 1 0.338028169 ENSG00000204344 chr6:31972731-31972731;G/C missense_variant False STK19@p.G278A 1 0.159090909 ENSG00000204344 chr6:31980468-31980468;G/C missense_variant False STK19@p.K126N 1 0.346666667 ENSG00000204344 chr6:31972459-31972459;G/C missense_variant False STK19@p.L243I 1 0.229166667 ENSG00000204344 chr6:31979465-31979465;C/A missense_variant False STK24@p.G352R 1 0.172794118 ENSG00000102572 chr13:98461809-98461809;C/G missense_variant False STK24@p.P346S 1 0.306306306 ENSG00000102572 chr13:98461827-98461827;G/A missense_variant False STK24@p.S118F 1 0.280487805 ENSG00000102572 chr13:98482278-98482278;G/A missense_variant False STK25@p.Y35C 1 0.263157895 ENSG00000115694 chr2:241501635-241501635;T/C missense_variant False STK26@p.D302N 1 0.075471698 ENSG00000134602 chrX:132071189-132071189;G/A missense_variant False STK26@p.D43H 1 0.394736842 ENSG00000134602 chrX:132054715-132054715;G/C missense_variant False STX12@p.Q42K 1 0.62962963 ENSG00000117758 chr1:27789567-27789567;C/A missense_variant False STX16@p.D63H 1 0.191489362 ENSG00000124222 chr20:58667532-58667532;G/C missense_variant False STAT3@p.S405F 1 0.086419753 ENSG00000168610 chr17:42329573-42329573;G/A missense_variant False SUPT3H@p.E221Q 1 0.420634921 ENSG00000196284 chr6:44954560-44954560;C/G missense_variant False SUPT5H@p.E704K 1 0.40625 ENSG00000196235 chr19:39472884-39472884;G/A missense_variant False SUPT5H@p.E496Q 1 0.34375 ENSG00000196235 chr19:39470230-39470230;G/C missense_variant False SUPT5H@p.E240K 1 0.172413793 ENSG00000196235 chr19:39464891-39464891;G/A missense_variant False SUPT5H@p.E22K 1 0.304347826 ENSG00000196235 chr19:39445954-39445954;G/A missense_variant False SUPT4H1@p.E47K 1 0.176470588 ENSG00000213246 chr17:58351439-58351439;C/T missense_variant False SUPT3H@p.L248F 1 0.26 ENSG00000196284 chr6:44953402-44953402;G/A missense_variant False SUPT3H@p.E198K 1 0.383333333 ENSG00000196284 chr6:44961774-44961774;C/T missense_variant False SUPT5H@p.G969C 1 0.375 ENSG00000196235 chr19:39474599-39474599;G/T missense_variant False SUPT3H@p.E195K 1 0.24137931 ENSG00000196284 chr6:44961783-44961783;C/T missense_variant False SUPT20HL2@p.R3Q 1 0.549707602 ENSG00000223611 chrX:24313308-24313308;C/T missense_variant False SUPT20HL2@p.G662V 1 0.6 ENSG00000223611 chrX:24311331-24311331;C/A missense_variant False SUPT20HL2@p.G457A 1 0.894736842 ENSG00000223611 chrX:24311946-24311946;C/G missense_variant False SUPT20HL1@p.P865R 1 0.140350877 ENSG00000223731 chrX:24365354-24365354;C/G missense_variant False SUPT20HL1@p.P297S 1 0.089108911 ENSG00000223731 chrX:24363649-24363649;C/T missense_variant False SUPT5H@p.G648Afs*7 1 0.244444444 ENSG00000196235 chr19:39471719-39471719;G/- frameshift_variant False SUPT5H@p.S970L 1 0.369747899 ENSG00000196235 chr19:39474603-39474603;C/T missense_variant False STX18@p.D140V 1 0.603448276 ENSG00000168818 chr4:4457434-4457434;T/A missense_variant False SUPT6H@p.F795L 1 0.687861272 ENSG00000109111 chr17:28684859-28684859;C/G missense_variant False SUPT6H@p.V1412A 1 0.514285714 ENSG00000109111 chr17:28697645-28697645;T/C missense_variant False SUPT6H@p.S879F 1 0.327272727 ENSG00000109111 chr17:28686725-28686725;C/T missense_variant False SUPT6H@p.S78L 1 0.315789474 ENSG00000109111 chr17:28674406-28674406;C/T missense_variant False SUPT6H@p.R119W 1 0.352941176 ENSG00000109111 chr17:28674979-28674979;C/T missense_variant False SUPT6H@p.M166V 1 0.104166667 ENSG00000109111 chr17:28675120-28675120;A/G missense_variant False SUPT6H@p.F839L 1 0.270833333 ENSG00000109111 chr17:28686366-28686366;T/C missense_variant False SUPT6H@p.F1472L 1 0.169082126 ENSG00000109111 chr17:28697998-28697998;C/G missense_variant False SUPT5H@p.T192S 1 0.311111111 ENSG00000196235 chr19:39459910-39459910;A/T missense_variant False SUPT6H@p.E309K 1 0.075144509 ENSG00000109111 chr17:28677742-28677742;G/A missense_variant False SUPT6H@p.E177Q 1 0.130434783 ENSG00000109111 chr17:28675153-28675153;G/C missense_variant False SUPT6H@p.E1492K 1 0.253623188 ENSG00000109111 chr17:28699806-28699806;G/A missense_variant False SUPT6H@p.E1344K 1 0.21875 ENSG00000109111 chr17:28696903-28696903;G/A missense_variant False SUPT6H@p.E10K 1 0.157894737 ENSG00000109111 chr17:28673429-28673429;G/A missense_variant False SUPT5H@p.Y765C 1 0.34375 ENSG00000196235 chr19:39473238-39473238;A/G missense_variant False SUPT20HL1@p.G49R 1 0.175675676 ENSG00000223731 chrX:24362905-24362905;G/A missense_variant False SUPT20HL1@p.A717T 1 0.178571429 ENSG00000223731 chrX:24364909-24364909;G/A missense_variant False SUPT20HL1@p.A343V 1 0.086956522 ENSG00000223731 chrX:24363788-24363788;C/T missense_variant False SUN5@p.L289Q 1 0.083333333 ENSG00000167098 chr20:32985767-32985767;A/T missense_variant False SUPT16H@p.G921D 1 0.184782609 ENSG00000092201 chr14:21354439-21354439;C/T missense_variant False SUPT16H@p.E946Q 1 0.242424242 ENSG00000092201 chr14:21353787-21353787;C/G missense_variant False SUPT16H@p.E928K 1 0.129032258 ENSG00000092201 chr14:21354419-21354419;C/T missense_variant False SUPT16H@p.E793K 1 0.25 ENSG00000092201 chr14:21358352-21358352;C/T missense_variant False SUPT16H@p.E769K 1 0.206896552 ENSG00000092201 chr14:21358424-21358424;C/T missense_variant False SUOX@p.E97Q 1 0.174311927 ENSG00000139531 chr12:56003678-56003678;G/C missense_variant False SUN3@p.S268L 1 0.347457627 ENSG00000164744 chr7:47994373-47994373;G/A missense_variant False SUPT20H@p.Y106C 1 0.475409836 ENSG00000102710 chr13:37044157-37044157;T/C missense_variant False SUN3@p.M144I 1 0.229166667 ENSG00000164744 chr7:48007225-48007225;C/T missense_variant False SUN2@p.T571M 1 0.4 ENSG00000100242 chr22:38738940-38738940;G/A missense_variant False SUN1@p.S689L 1 0.320754717 ENSG00000164828 chr7:866042-866042;C/T missense_variant False SUN1@p.S576L 1 0.225806452 ENSG00000164828 chr7:860219-860219;C/T missense_variant False SUN1@p.S213C 1 0.291666667 ENSG00000164828 chr7:843500-843500;C/G missense_variant False SUN1@p.E537K 1 0.297142857 ENSG00000164828 chr7:857931-857931;G/A missense_variant False SUPT16H@p.G99A 1 0.302083333 ENSG00000092201 chr14:21371908-21371908;C/G missense_variant False SUPT16H@p.H550Y 1 0.480446927 ENSG00000092201 chr14:21362811-21362811;G/A missense_variant False SUPT16H@p.I718del 1 0.141414141 ENSG00000092201 chr14:21360436-21360438;AAT/- inframe_deletion False SUPT16H@p.K132N 1 0.418367347 ENSG00000092201 chr14:21370423-21370423;C/G missense_variant False SUPT16H@p.M906I 1 0.432432432 ENSG00000092201 chr14:21354483-21354483;C/G missense_variant False SUPT16H@p.R474Q 1 0.441666667 ENSG00000092201 chr14:21363124-21363124;C/T missense_variant False SUPT16H@p.R492Q 1 0.558139535 ENSG00000092201 chr14:21363070-21363070;C/T missense_variant False SUPT20H@p.D265H 1 0.248120301 ENSG00000102710 chr13:37031810-37031810;C/G missense_variant False SUPT20H@p.D321N 1 0.15 ENSG00000102710 chr13:37029797-37029797;C/T missense_variant False SUPT20H@p.E309D 1 0.303571429 ENSG00000102710 chr13:37029831-37029831;C/G missense_variant False SUPT20H@p.E667Q 1 0.165413534 ENSG00000102710 chr13:37012291-37012291;C/G missense_variant False SUPT20H@p.I466Nfs*83 1 0.418604651 ENSG00000102710 chr13:37024372-37024375;TTGA/- frameshift_variant False SUPT20H@p.K316R 1 0.405405405 ENSG00000102710 chr13:37029811-37029811;T/C missense_variant False SUPT20H@p.M769I 1 0.092857143 ENSG00000102710 chr13:37009705-37009705;C/A missense_variant False SUPT20H@p.N247Y 1 0.093333333 ENSG00000102710 chr13:37031864-37031864;T/A missense_variant False SUPT20H@p.P211L 1 0.203883495 ENSG00000102710 chr13:37033524-37033524;G/A missense_variant False SUPT20H@p.S615L 1 0.132978723 ENSG00000102710 chr13:37019370-37019370;G/A missense_variant False SUPT7L@p.E217K 1 0.2 ENSG00000119760 chr2:27657440-27657440;C/T missense_variant False SUPT7L@p.L336V 1 0.299270073 ENSG00000119760 chr2:27653724-27653724;G/C missense_variant False SUPT7L@p.P103S 1 0.428571429 ENSG00000119760 chr2:27661096-27661096;G/A missense_variant False SV2B@p.V195L 1 0.288135593 ENSG00000185518 chr15:91251950-91251950;G/T missense_variant False SV2C@p.R248C 1 0.2 ENSG00000122012 chr5:76195080-76195080;C/T missense_variant False SV2C@p.P186R 1 0.258064516 ENSG00000122012 chr5:76132307-76132307;C/G missense_variant False SV2C@p.F673L 1 0.27184466 ENSG00000122012 chr5:76325382-76325382;C/G missense_variant False SV2C@p.E90Q 1 0.36 ENSG00000122012 chr5:76132018-76132018;G/C missense_variant False SV2C@p.E394Q 1 0.382352941 ENSG00000122012 chr5:76291263-76291263;G/C missense_variant False SV2C@p.A676V 1 0.576086957 ENSG00000122012 chr5:76325390-76325390;C/T missense_variant False SV2B@p.S16G 1 0.389830508 ENSG00000185518 chr15:91226309-91226309;A/G missense_variant False SV2A@p.S249L 1 0.394736842 ENSG00000159164 chr1:149911857-149911857;G/A missense_variant False SV2B@p.R75W 1 0.128205128 ENSG00000185518 chr15:91226486-91226486;C/T missense_variant False SV2B@p.R678G 1 0.14 ENSG00000185518 chr15:91292532-91292532;C/G missense_variant False SV2B@p.L393P 1 0.131578947 ENSG00000185518 chr15:91267613-91267613;T/C missense_variant False SV2B@p.D100Y 1 0.254545455 ENSG00000185518 chr15:91226561-91226561;G/T missense_variant False SV2A@p.Y98H 1 0.389830508 ENSG00000159164 chr1:149913549-149913549;A/G missense_variant False SV2A@p.V189M 1 0.542986425 ENSG00000159164 chr1:149913276-149913276;C/T missense_variant False SVBP@p.Q33H 1 0.157099698 ENSG00000177868 chr1:42816446-42816446;C/G missense_variant False SVEP1@p.E823Q 1 0.297101449 ENSG00000165124 chr9:110479655-110479655;C/G missense_variant False SVEP1@p.F1013L 1 0.169811321 ENSG00000165124 chr9:110469061-110469061;G/C missense_variant False SVEP1@p.F2044L 1 0.372093023 ENSG00000165124 chr9:110411579-110411579;G/C missense_variant False SVEP1@p.G1818V 1 0.136363636 ENSG00000165124 chr9:110430351-110430351;C/A missense_variant False SVEP1@p.K2266E 1 0.23255814 ENSG00000165124 chr9:110408804-110408804;T/C missense_variant False SVEP1@p.K2317N 1 0.535714286 ENSG00000165124 chr9:110408649-110408649;C/G missense_variant False SVEP1@p.M456T 1 0.336842105 ENSG00000165124 chr9:110503154-110503154;A/G missense_variant False SVEP1@p.P1967L 1 0.557692308 ENSG00000165124 chr9:110427666-110427666;G/A missense_variant False SVEP1@p.P2384L 1 0.457142857 ENSG00000165124 chr9:110408449-110408449;G/A missense_variant False SVEP1@p.P616R 1 0.305555556 ENSG00000165124 chr9:110489733-110489733;G/C missense_variant False SVEP1@p.R1292C 1 0.666666667 ENSG00000165124 chr9:110451316-110451316;G/A missense_variant False SVEP1@p.R1509K 1 0.214285714 ENSG00000165124 chr9:110443658-110443658;C/T missense_variant False SVEP1@p.R257C 1 0.193548387 ENSG00000165124 chr9:110549867-110549867;G/A missense_variant False SVEP1@p.S1919I 1 0.444444444 ENSG00000165124 chr9:110429194-110429194;C/A missense_variant False SVEP1@p.S2300R 1 0.058139535 ENSG00000165124 chr9:110408702-110408702;T/G missense_variant False SVEP1@p.S2301F 1 0.191780822 ENSG00000165124 chr9:110408698-110408698;G/A missense_variant False SV2A@p.T575K 1 0.210526316 ENSG00000159164 chr1:149906811-149906811;G/T missense_variant False SV2A@p.K485E 1 0.220338983 ENSG00000159164 chr1:149908133-149908133;T/C missense_variant False SUPT7L@p.S13L 1 0.078125 ENSG00000119760 chr2:27661365-27661365;G/A missense_variant False SUSD1@p.I512M 1 0.402298851 ENSG00000106868 chr9:112080104-112080104;G/C missense_variant False SUSD2@p.T129S 1 0.597560976 ENSG00000099994 chr22:24183592-24183592;A/T missense_variant False SUSD2@p.G525V 1 0.222222222 ENSG00000099994 chr22:24186347-24186347;G/T missense_variant False SUSD2@p.D379N 1 0.220338983 ENSG00000099994 chr22:24185725-24185725;G/A missense_variant False SUSD1@p.S229F 1 0.356756757 ENSG00000106868 chr9:112142340-112142340;G/A missense_variant False SUSD1@p.N317S 1 0.142857143 ENSG00000106868 chr9:112112805-112112805;T/C missense_variant False SUSD1@p.K276N 1 0.549132948 ENSG00000106868 chr9:112124315-112124315;C/A missense_variant False SUSD1@p.E184K 1 0.570754717 ENSG00000106868 chr9:112142476-112142476;C/T missense_variant False SV2A@p.F658S 1 0.265306122 ENSG00000159164 chr1:149905952-149905952;A/G missense_variant False SUSD1@p.E128K 1 0.069444444 ENSG00000106868 chr9:112143615-112143615;C/T missense_variant False SURF6@p.S22A 1 0.359375 ENSG00000148296 chr9:133336069-133336069;A/C missense_variant False SURF6@p.R305C 1 0.305555556 ENSG00000148296 chr9:133332042-133332042;G/A missense_variant False SURF4@p.D263N 1 0.958333333 ENSG00000148248 chr9:133363516-133363516;C/T missense_variant False SURF1@p.A146_E148del 1 0.146341463 ENSG00000148290 chr9:133353819-133353827;CCTCCCGGG/- inframe_deletion False SUPV3L1@p.D77N 1 0.289256198 ENSG00000156502 chr10:69180520-69180520;G/A missense_variant False SUSD3@p.A160T 1 0.29787234 ENSG00000157303 chr9:93079523-93079523;G/A missense_variant False SUSD3@p.V104M 1 0.458333333 ENSG00000157303 chr9:93077878-93077878;G/A missense_variant False SUSD5@p.G550C 1 0.147058824 ENSG00000173705 chr3:33152984-33152984;C/A missense_variant False SUSD5@p.M111I 1 0.109589041 ENSG00000173705 chr3:33207884-33207884;C/G missense_variant False SUSD5@p.P557S 1 0.115384615 ENSG00000173705 chr3:33152963-33152963;G/A missense_variant False SUSD5@p.S145L 1 0.31147541 ENSG00000173705 chr3:33175050-33175050;G/A missense_variant False SUSD5@p.S240P 1 0.205128205 ENSG00000173705 chr3:33153914-33153914;A/G missense_variant False SUSD5@p.S552I 1 0.24137931 ENSG00000173705 chr3:33152977-33152977;C/A missense_variant False SUSD6@p.E49K 1 0.323353293 ENSG00000100647 chr14:69703418-69703418;G/A missense_variant False SUV39H2@p.S36L 1 0.406976744 ENSG00000152455 chr10:14881575-14881575;C/T missense_variant False SUZ12@p.E601Q 1 0.098901099 ENSG00000178691 chr17:31996804-31996804;G/C missense_variant False SUZ12@p.K521E 1 0.467889908 ENSG00000178691 chr17:31994687-31994687;A/G missense_variant False SUZ12@p.L377F 1 0.166666667 ENSG00000178691 chr17:31988425-31988425;C/T missense_variant False SUZ12@p.M265I 1 0.197674419 ENSG00000178691 chr17:31975685-31975685;G/A missense_variant False SUZ12@p.S583I 1 0.134615385 ENSG00000178691 chr17:31995716-31995716;G/T missense_variant False SUZ12@p.S604C 1 0.554347826 ENSG00000178691 chr17:31996814-31996814;C/G missense_variant False SUZ12@p.S693F 1 0.32 ENSG00000178691 chr17:31998861-31998861;C/T missense_variant False SUN1@p.D2H 1 0.393939394 ENSG00000164828 chr7:832528-832528;G/C missense_variant False SUN1@p.D153H 1 0.215686275 ENSG00000164828 chr7:843211-843211;G/C missense_variant False SUMO1@p.P58L 1 0.571428571 ENSG00000116030 chr2:202210799-202210799;G/A missense_variant False STXBP5L@p.S828C 1 0.21875 ENSG00000145087 chr3:121381356-121381356;C/G missense_variant False STYX@p.D107H 1 0.315789474 ENSG00000198252 chr14:52757334-52757334;G/C missense_variant False STYK1@p.A406T 1 0.482889734 ENSG00000060140 chr12:10620197-10620197;C/T missense_variant False STXBP6@p.K30M 1 0.142857143 ENSG00000168952 chr14:24974730-24974730;T/A missense_variant False STXBP6@p.E184Q 1 0.127272727 ENSG00000168952 chr14:24819096-24819096;C/G missense_variant False STXBP5L@p.W236C 1 0.081967213 ENSG00000145087 chr3:121152515-121152515;G/C missense_variant False STXBP5L@p.T596S 1 0.312 ENSG00000145087 chr3:121257288-121257288;C/G missense_variant False STXBP5L@p.R246S 1 0.481481481 ENSG00000145087 chr3:121152545-121152545;A/C missense_variant False STXBP5@p.S589L 1 0.65 ENSG00000164506 chr6:147316371-147316371;C/T missense_variant False STXBP5L@p.R1138H 1 0.492957746 ENSG00000145087 chr3:121418451-121418451;G/A missense_variant False STXBP5L@p.N808T 1 0.227272727 ENSG00000145087 chr3:121381296-121381296;A/C missense_variant False STXBP5L@p.M1004I 1 0.485294118 ENSG00000145087 chr3:121407595-121407595;G/A missense_variant False STXBP5L@p.L741_E742del 1 0.415492958 ENSG00000145087 chr3:121318510-121318515;GAACTT/- inframe_deletion False STXBP5L@p.K493I 1 0.333333333 ENSG00000145087 chr3:121254931-121254931;A/T missense_variant False STXBP5L@p.F706L 1 0.545454545 ENSG00000145087 chr3:121282273-121282273;T/G missense_variant False STYXL1@p.D178H 1 0.064814815 ENSG00000127952 chr7:76005326-76005326;C/G missense_variant False STYXL1@p.F169Rfs*13 1 0.363636364 ENSG00000127952 chr7:76005353-76005354;-/GACCTTCCCT frameshift_variant False STYXL2@p.A166V 1 0.705882353 ENSG00000198842 chr1:167119308-167119308;C/T missense_variant False STYXL2@p.C812G 1 0.637583893 ENSG00000198842 chr1:167127565-167127565;T/G missense_variant False STYXL2@p.E226K 1 0.402777778 ENSG00000198842 chr1:167125807-167125807;G/A missense_variant False STYXL2@p.K579N 1 0.157142857 ENSG00000198842 chr1:167126868-167126868;G/C missense_variant False STYXL2@p.Q64H 1 0.364431487 ENSG00000198842 chr1:167113791-167113791;G/C missense_variant False SUCLA2@p.M173L 1 0.40625 ENSG00000136143 chr13:47988558-47988558;T/G missense_variant False SUCLA2@p.R433L 1 0.204545455 ENSG00000136143 chr13:47949022-47949022;C/A missense_variant False SUCLG1@p.T335K 1 0.268656716 ENSG00000163541 chr2:84425425-84425425;G/T missense_variant False SUCLG1@p.V83I 1 0.62962963 ENSG00000163541 chr2:84443355-84443355;C/T missense_variant False SUCLG2@p.G298R 1 0.269230769 ENSG00000172340 chr3:67498161-67498161;C/T missense_variant False SUCLG2@p.Q172H 1 0.068376068 ENSG00000172340 chr3:67520536-67520536;C/A missense_variant False SUCNR1@p.E333A 1 0.073170732 ENSG00000198829 chr3:151881541-151881541;A/C missense_variant False SUCNR1@p.H325Y 1 0.454545455 ENSG00000198829 chr3:151881516-151881516;C/T missense_variant False SUCNR1@p.S275F 1 0.537931034 ENSG00000198829 chr3:151881367-151881367;C/T missense_variant False SUCO@p.E273K 1 0.27480916 ENSG00000094975 chr1:172569103-172569103;G/A missense_variant False STXBP5L@p.E1076Q 1 0.329787234 ENSG00000145087 chr3:121415896-121415896;G/C missense_variant False STXBP5@p.R679Q 1 0.309278351 ENSG00000164506 chr6:147327232-147327232;G/A missense_variant False SUCO@p.L1020V 1 0.161904762 ENSG00000094975 chr1:172602103-172602103;C/G missense_variant False STX3@p.E70D 1 0.127272727 ENSG00000166900 chr11:59787132-59787132;G/C missense_variant False STX6@p.W132C 1 0.262411348 ENSG00000135823 chr1:180990077-180990077;C/G missense_variant False STX6@p.D34Y 1 0.111111111 ENSG00000135823 chr1:181005399-181005399;C/A missense_variant False STX5@p.S185C 1 0.601809955 ENSG00000162236 chr11:62825326-62825326;G/C missense_variant False STX4@p.L275F 1 0.296428571 ENSG00000103496 chr16:31039734-31039734;G/C missense_variant False STX4@p.I278M 1 0.211764706 ENSG00000103496 chr16:31039743-31039743;C/G missense_variant False STX3@p.S179F 1 0.578947368 ENSG00000166900 chr11:59793168-59793168;C/T missense_variant False STX2@p.M237I 1 0.071428571 ENSG00000111450 chr12:130798600-130798600;C/T missense_variant False STXBP5@p.I134V 1 0.422413793 ENSG00000164506 chr6:147239239-147239239;A/G missense_variant False STX2@p.G17A 1 0.315068493 ENSG00000111450 chr12:130827248-130827248;C/G missense_variant False STX2@p.E73Q 1 0.463157895 ENSG00000111450 chr12:130813020-130813020;C/G missense_variant False STX1A@p.I203M 1 0.307692308 ENSG00000106089 chr7:73702914-73702914;G/C missense_variant False STX19@p.I226M 1 0.266666667 ENSG00000178750 chr3:94014592-94014592;T/C missense_variant False STX19@p.I147V 1 0.115384615 ENSG00000178750 chr3:94014831-94014831;T/C missense_variant False STX18@p.Q152H 1 0.577777778 ENSG00000168818 chr4:4457232-4457232;C/G missense_variant False STX7@p.I185V 1 0.138888889 ENSG00000079950 chr6:132468460-132468460;T/C missense_variant False STX7@p.R226K 1 0.432835821 ENSG00000079950 chr6:132464009-132464009;C/T missense_variant False STX8@p.L62F 1 0.75862069 ENSG00000170310 chr17:9557460-9557460;C/A missense_variant False STX8@p.R79K 1 0.217687075 ENSG00000170310 chr17:9545259-9545259;C/T missense_variant False STXBP1@p.I383F 1 0.236363636 ENSG00000136854 chr9:127675840-127675840;A/T missense_variant False STXBP1@p.K314N 1 0.0546875 ENSG00000136854 chr9:127669937-127669937;G/C missense_variant False STXBP1@p.K98Nfs*22 1 0.186440678 ENSG00000136854 chr9:127660075-127660075;A/- frameshift_variant False STXBP1@p.P187Q 1 0.131578947 ENSG00000136854 chr9:127663335-127663335;C/A missense_variant False STXBP2@p.S42F 1 0.578947368 ENSG00000076944 chr19:7639056-7639056;C/T missense_variant False STXBP3@p.D491N 1 0.152542373 ENSG00000116266 chr1:108800241-108800241;G/A missense_variant False STXBP3@p.E265D 1 0.111111111 ENSG00000116266 chr1:108779396-108779396;G/C missense_variant False STXBP3@p.E363K 1 0.464285714 ENSG00000116266 chr1:108794884-108794884;G/A missense_variant False STXBP4@p.E330Q 1 0.105263158 ENSG00000166263 chr17:55047131-55047131;G/C missense_variant False STXBP4@p.P475S 1 0.343434343 ENSG00000166263 chr17:55081117-55081117;C/T missense_variant False STXBP4@p.S212C 1 0.047311828 ENSG00000166263 chr17:55007566-55007566;C/G missense_variant False STXBP4@p.Y513C 1 0.136363636 ENSG00000166263 chr17:55141358-55141358;A/G missense_variant False STXBP5@p.E483Q 1 0.217391304 ENSG00000164506 chr6:147315559-147315559;G/C missense_variant False SUCO@p.E949Q 1 0.208955224 ENSG00000094975 chr1:172591003-172591003;G/C missense_variant False SUCO@p.L1215F 1 0.183673469 ENSG00000094975 chr1:172610139-172610139;G/T missense_variant False SUMF2@p.R156Q 1 0.258064516 ENSG00000129103 chr7:56074611-56074611;G/A missense_variant False SULT1A2@p.L118V 1 0.244680851 ENSG00000197165 chr16:28595387-28595387;G/C missense_variant False SULT1C2@p.D222H 1 0.403508772 ENSG00000198203 chr2:108305481-108305481;G/C missense_variant False SULT1C2@p.D175N 1 0.276315789 ENSG00000198203 chr2:108305192-108305192;G/A missense_variant False SULT1B1@p.R104W 1 0.256410256 ENSG00000173597 chr4:69749786-69749786;G/A missense_variant False SULT1B1@p.K266N 1 0.392857143 ENSG00000173597 chr4:69727181-69727181;C/A missense_variant False SULT1B1@p.E77K 1 0.36 ENSG00000173597 chr4:69754718-69754718;C/T missense_variant False SULT1B1@p.E219K 1 0.08 ENSG00000173597 chr4:69730624-69730624;C/T missense_variant False SULT1A1@p.S171F 1 0.12295082 ENSG00000289755 chr16:28606843-28606843;G/A missense_variant False SULF1@p.T769M 1 0.083333333 ENSG00000137573 chr8:69638523-69638523;C/T missense_variant False SULT1A1@p.E203Q 1 0.769230769 ENSG00000289755 chr16:28606224-28606224;C/G missense_variant False SULF2@p.R69C 1 0.352941176 ENSG00000196562 chr20:47736913-47736913;G/A missense_variant False SULF2@p.P357S 1 0.120967742 ENSG00000196562 chr20:47678800-47678800;G/A missense_variant False SULF2@p.K66N 1 0.133333333 ENSG00000196562 chr20:47736920-47736920;C/G missense_variant False SULF2@p.G818D 1 0.369047619 ENSG00000196562 chr20:47661814-47661814;C/T missense_variant False SULF2@p.E636Q 1 0.193877551 ENSG00000196562 chr20:47665290-47665290;C/G missense_variant False SULT1C3@p.D258N 1 0.075757576 ENSG00000196228 chr2:108264975-108264975;G/A missense_variant False SULT1C3@p.L29F 1 0.416666667 ENSG00000196228 chr2:108247281-108247281;G/C missense_variant False SULT1C3@p.M158K 1 0.592 ENSG00000196228 chr2:108255645-108255645;T/A missense_variant False SULT1C3@p.P124S 1 0.295918367 ENSG00000196228 chr2:108253413-108253413;C/T missense_variant False SULT1C4@p.D46H 1 0.267973856 ENSG00000198075 chr2:108378473-108378473;G/C missense_variant False SULT1C4@p.K192E 1 0.647727273 ENSG00000198075 chr2:108383469-108383469;A/G missense_variant False SULT1C4@p.Q69Yfs*24 1 0.340425532 ENSG00000198075 chr2:108381793-108381794;-/AT frameshift_variant False SULT1E1@p.V134M 1 0.463414634 ENSG00000109193 chr4:69849533-69849533;C/T missense_variant False SULT2A1@p.K224E 1 0.398734177 ENSG00000105398 chr19:47874732-47874732;T/C missense_variant False SULT2A1@p.P278S 1 0.417910448 ENSG00000105398 chr19:47871481-47871481;G/A missense_variant False SULT2A1@p.R193K 1 0.34375 ENSG00000105398 chr19:47874824-47874824;C/T missense_variant False SULT2A1@p.W284R 1 0.32 ENSG00000105398 chr19:47871463-47871463;A/G missense_variant False SULT2B1@p.D115Y 1 0.155555556 ENSG00000088002 chr19:48587357-48587357;G/T missense_variant False SULT2B1@p.Y16F 1 0.31147541 ENSG00000088002 chr19:48552299-48552299;A/T missense_variant False SULT6B1@p.L193V 1 0.158730159 ENSG00000138068 chr2:37175179-37175179;G/C missense_variant False SULT6B1@p.Y203F 1 0.280701754 ENSG00000138068 chr2:37175148-37175148;T/A missense_variant False SUMF1@p.P77A 1 0.25 ENSG00000144455 chr3:4467017-4467017;G/C missense_variant False SULF1@p.V48M 1 0.228571429 ENSG00000137573 chr8:69564117-69564117;G/A missense_variant False SULF1@p.T543A 1 0.180327869 ENSG00000137573 chr8:69623974-69623974;A/G missense_variant False SUCO@p.L1219V 1 0.093023256 ENSG00000094975 chr1:172610149-172610149;C/G missense_variant False SUFU@p.K467N 1 0.108695652 ENSG00000107882 chr10:102630101-102630101;G/C missense_variant False SUGP2@p.D135G 1 0.108108108 ENSG00000064607 chr19:19025944-19025944;T/C missense_variant False SUGP1@p.S256L 1 0.405172414 ENSG00000105705 chr19:19302385-19302385;G/A missense_variant False SUGP1@p.R548H 1 0.340425532 ENSG00000105705 chr19:19277872-19277872;C/T missense_variant False SUGP1@p.K384N 1 0.395833333 ENSG00000105705 chr19:19297080-19297080;C/G missense_variant False SUGP1@p.E205K 1 0.152439024 ENSG00000105705 chr19:19303773-19303773;C/T missense_variant False SUGP1@p.C78F 1 0.220338983 ENSG00000105705 chr19:19310174-19310174;C/A missense_variant False SUFU@p.E461Q 1 0.201219512 ENSG00000107882 chr10:102630081-102630081;G/C missense_variant False SULF1@p.R819Q 1 0.15503876 ENSG00000137573 chr8:69638763-69638763;G/A missense_variant False SUFU@p.D262H 1 0.215189873 ENSG00000107882 chr10:102597167-102597167;G/C missense_variant False SUFU@p.D248N 1 0.482954545 ENSG00000107882 chr10:102594051-102594051;G/A missense_variant False SUCO@p.Y1158N 1 0.690217391 ENSG00000094975 chr1:172609966-172609966;T/A missense_variant False SUCO@p.L729V 1 0.404761905 ENSG00000094975 chr1:172589286-172589286;C/G missense_variant False SUCO@p.L681V 1 0.160714286 ENSG00000094975 chr1:172589142-172589142;C/G missense_variant False SUCO@p.L177V 1 0.555084746 ENSG00000094975 chr1:172557365-172557365;C/G missense_variant False SUGP2@p.D344N 1 0.256756757 ENSG00000064607 chr19:19025318-19025318;C/T missense_variant False SUGP2@p.E451Q 1 0.138461538 ENSG00000064607 chr19:19024997-19024997;C/G missense_variant False SUGP2@p.E52K 1 0.4 ENSG00000064607 chr19:19026194-19026194;C/T missense_variant False SUGP2@p.Q232P 1 0.363636364 ENSG00000064607 chr19:19025653-19025653;T/G missense_variant False SUGP2@p.S943F 1 0.121212121 ENSG00000064607 chr19:19004269-19004269;G/A missense_variant False SUGT1@p.E73K 1 0.173913043 ENSG00000165416 chr13:52658428-52658428;G/A missense_variant False SUGT1@p.K299N 1 0.434782609 ENSG00000165416 chr13:52680056-52680056;G/T missense_variant False SULF1@p.A315D 1 0.127753304 ENSG00000137573 chr8:69601712-69601712;C/A missense_variant False SULF1@p.D379N 1 0.205479452 ENSG00000137573 chr8:69603265-69603265;G/A missense_variant False SULF1@p.E158Q 1 0.256684492 ENSG00000137573 chr8:69586416-69586416;G/C missense_variant False SULF1@p.E465Q 1 0.471428571 ENSG00000137573 chr8:69621050-69621050;G/C missense_variant False SULF1@p.E631K 1 0.575757576 ENSG00000137573 chr8:69627250-69627250;G/A missense_variant False SULF1@p.G596Afs*19 1 0.285714286 ENSG00000137573 chr8:69624131-69624131;G/- frameshift_variant False SULF1@p.K846N 1 0.063492063 ENSG00000137573 chr8:69638845-69638845;G/C missense_variant False SULF1@p.Q284K 1 0.045045045 ENSG00000137573 chr8:69600718-69600718;C/A missense_variant False SULF1@p.R42L 1 0.373737374 ENSG00000137573 chr8:69564100-69564100;G/T missense_variant False SULF1@p.R440L 1 0.121212121 ENSG00000137573 chr8:69604874-69604874;G/T missense_variant False STAT4@p.D169H 1 0.445783133 ENSG00000138378 chr2:191069732-191069732;C/G missense_variant False STAT3@p.R152W 1 0.451612903 ENSG00000168610 chr17:42339328-42339328;G/A missense_variant False SVEP1@p.T3160K 1 0.357723577 ENSG00000165124 chr9:110404514-110404514;G/T missense_variant False SRRM2@p.E1479A 1 0.484848485 ENSG00000167978 chr16:2764964-2764964;A/C missense_variant False SRRM2@p.R1448T 1 0.791304348 ENSG00000167978 chr16:2764871-2764871;G/C missense_variant False SRRM2@p.Q833R 1 0.198924731 ENSG00000167978 chr16:2763026-2763026;A/G missense_variant False SRRM2@p.E396K 1 0.143589744 ENSG00000167978 chr16:2761714-2761714;G/A missense_variant False SRRM2@p.E2573K 1 0.18 ENSG00000167978 chr16:2768245-2768245;G/A missense_variant False SRRM2@p.E201K 1 0.327272727 ENSG00000167978 chr16:2758992-2758992;G/A missense_variant False SRRM2@p.E1515Q 1 0.78 ENSG00000167978 chr16:2765071-2765071;G/C missense_variant False SRRM2@p.E1259Q 1 0.081300813 ENSG00000167978 chr16:2764303-2764303;G/C missense_variant False SRRM2@p.R1719I 1 0.519230769 ENSG00000167978 chr16:2765684-2765684;G/T missense_variant False SRRM2@p.E100K 1 0.166666667 ENSG00000167978 chr16:2757527-2757527;G/A missense_variant False SRRM2@p.D1481N 1 0.301470588 ENSG00000167978 chr16:2764969-2764969;G/A missense_variant False SRRM2@p.D1429H 1 0.075471698 ENSG00000167978 chr16:2764813-2764813;G/C missense_variant False SRRM2@p.D1408H 1 0.151202749 ENSG00000167978 chr16:2764750-2764750;G/C missense_variant False SRRM1@p.S528G 1 0.112676056 ENSG00000133226 chr1:24662758-24662758;A/G missense_variant False SRRM1@p.S452L 1 0.231578947 ENSG00000133226 chr1:24660758-24660758;C/T missense_variant False SRRM2@p.R1475T 1 0.1171875 ENSG00000167978 chr16:2764952-2764952;G/C missense_variant False SRRM2@p.R1853C 1 0.169811321 ENSG00000167978 chr16:2766085-2766085;C/T missense_variant False SSH3@p.E143K 1 0.428571429 ENSG00000172830 chr11:67306925-67306925;G/A missense_variant False SRRM2@p.S2512C 1 0.157142857 ENSG00000167978 chr16:2768063-2768063;C/G missense_variant False SRRM3@p.E239Q 1 0.575342466 ENSG00000177679 chr7:76264805-76264805;G/C missense_variant False SRRM2@p.S669L 1 0.32 ENSG00000167978 chr16:2762534-2762534;C/T missense_variant False SRRM2@p.S2706L 1 0.333333333 ENSG00000167978 chr16:2770447-2770447;C/T missense_variant False SRRM2@p.S2640C 1 0.493975904 ENSG00000167978 chr16:2769182-2769182;C/G missense_variant False SRRM2@p.S2544F 1 0.703703704 ENSG00000167978 chr16:2768159-2768159;C/T missense_variant False SRRM2@p.S2535W 1 0.384615385 ENSG00000167978 chr16:2768132-2768132;C/G missense_variant False SRRM2@p.S2335C 1 0.126654064 ENSG00000167978 chr16:2767532-2767532;C/G missense_variant False SRRM2@p.R1949Tfs*69 1 0.278688525 ENSG00000167978 chr16:2766374-2766380;GAACTCC/CT frameshift_variant False SRRM2@p.S1581L 1 0.109090909 ENSG00000167978 chr16:2765270-2765270;C/T missense_variant False SRRM2@p.R693W 1 0.159090909 ENSG00000167978 chr16:2762605-2762605;C/T missense_variant False SRRM2@p.R650K 1 0.385416667 ENSG00000167978 chr16:2762477-2762477;G/A missense_variant False SRRM2@p.R643T 1 0.182926829 ENSG00000167978 chr16:2762456-2762456;G/C missense_variant False SRRM2@p.R2356K 1 0.104166667 ENSG00000167978 chr16:2767595-2767595;G/A missense_variant False SRRM2@p.R2097I 1 0.351851852 ENSG00000167978 chr16:2766818-2766818;G/T missense_variant False SRRM1@p.R279L 1 0.45 ENSG00000133226 chr1:24652544-24652544;G/T missense_variant False SRRM1@p.E861Q 1 0.12962963 ENSG00000133226 chr1:24671566-24671566;G/C missense_variant False SRR@p.K45N 1 0.308641975 ENSG00000167720 chr17:2315695-2315695;A/T missense_variant False SRP72@p.S637F 1 0.285714286 ENSG00000174780 chr4:56501755-56501755;C/T missense_variant False SRPK2@p.E363K 1 0.17 ENSG00000135250 chr7:105142431-105142431;C/T missense_variant False SRPK2@p.E360K 1 0.197674419 ENSG00000135250 chr7:105142440-105142440;C/T missense_variant False SRPK2@p.E318K 1 0.098591549 ENSG00000135250 chr7:105143159-105143159;C/T missense_variant False SRPK1@p.R649W 1 0.212121212 ENSG00000096063 chr6:35835327-35835327;G/A missense_variant False SRPK1@p.L612V 1 0.228571429 ENSG00000096063 chr6:35835438-35835438;G/C missense_variant False SRP9@p.E84Dfs*15 1 0.295454545 ENSG00000143742 chr1:225789350-225789351;AA/T frameshift_variant False SRP72@p.M196I 1 0.384615385 ENSG00000174780 chr4:56474369-56474369;G/A missense_variant False SRR@p.D112H 1 0.703389831 ENSG00000167720 chr17:2318864-2318864;G/C missense_variant False SRP72@p.K391E 1 0.282051282 ENSG00000174780 chr4:56487960-56487960;A/G missense_variant False SRP72@p.I488N 1 0.52 ENSG00000174780 chr4:56490606-56490606;T/A missense_variant False SRP72@p.I358V 1 0.24 ENSG00000174780 chr4:56484850-56484850;A/G missense_variant False SRP72@p.E83K 1 0.29787234 ENSG00000174780 chr4:56471736-56471736;G/A missense_variant False SRP72@p.E321K 1 0.056818182 ENSG00000174780 chr4:56484739-56484739;G/A missense_variant False SRP72@p.E145K 1 0.402985075 ENSG00000174780 chr4:56474132-56474132;G/A missense_variant False SRPK2@p.E668Q 1 0.314814815 ENSG00000135250 chr7:105117903-105117903;C/G missense_variant False SRPK2@p.P22S 1 0.342465753 ENSG00000135250 chr7:105388655-105388655;G/A missense_variant False SRPK2@p.P652L 1 0.228571429 ENSG00000135250 chr7:105117950-105117950;G/A missense_variant False SRPK3@p.G386S 1 0.157894737 ENSG00000184343 chrX:153784302-153784302;G/A missense_variant False SRPK3@p.L542V 1 0.162162162 ENSG00000184343 chrX:153785440-153785440;C/G missense_variant False SRPK3@p.S370F 1 0.151515152 ENSG00000184343 chrX:153784175-153784175;C/T missense_variant False SRPK3@p.V188M 1 0.361111111 ENSG00000184343 chrX:153782858-153782858;G/A missense_variant False SRPK3@p.W94C 1 0.619047619 ENSG00000184343 chrX:153781596-153781596;G/C missense_variant False SRPRA@p.E391Q 1 0.588235294 ENSG00000182934 chr11:126265408-126265408;C/G missense_variant False SRPRA@p.I601V 1 0.289473684 ENSG00000182934 chr11:126264032-126264032;T/C missense_variant False SRPRA@p.K137N 1 0.279329609 ENSG00000182934 chr11:126267290-126267290;C/G missense_variant False SRPRB@p.E151K 1 0.55787037 ENSG00000144867 chr3:133815630-133815630;G/A missense_variant False SRPRB@p.Q93E 1 0.328358209 ENSG00000144867 chr3:133807773-133807773;C/G missense_variant False SRPRB@p.R65T 1 0.26 ENSG00000144867 chr3:133806648-133806648;G/C missense_variant False SRPRB@p.S6L 1 0.196078431 ENSG00000144867 chr3:133805865-133805865;C/T missense_variant False SRPX@p.K236N 1 0.245283019 ENSG00000101955 chrX:38161000-38161000;C/G missense_variant False SRR@p.A117G 1 0.389221557 ENSG00000167720 chr17:2318880-2318880;C/G missense_variant False SRRM4@p.E13Q 1 0.4 ENSG00000139767 chr12:118981919-118981919;G/C missense_variant False SRRM4@p.E367K 1 0.172413793 ENSG00000139767 chr12:119151039-119151039;G/A missense_variant False SRRM4@p.R187S 1 0.239130435 ENSG00000139767 chr12:119125424-119125424;C/A missense_variant False SSB@p.R206T 1 0.23880597 ENSG00000138385 chr2:169808544-169808544;G/C missense_variant False SSBP3@p.R77T 1 0.421052632 ENSG00000157216 chr1:54401907-54401907;C/G missense_variant False SSBP3@p.M386I 1 0.228310502 ENSG00000157216 chr1:54227140-54227140;C/A missense_variant False SSBP3@p.M223I 1 0.271676301 ENSG00000157216 chr1:54243282-54243282;C/T missense_variant False SSBP2@p.P243S 1 0.291666667 ENSG00000145687 chr5:81446919-81446919;G/A missense_variant False SSBP2@p.N51Y 1 0.287671233 ENSG00000145687 chr5:81636603-81636603;T/A missense_variant False SSBP1@p.R11C 1 0.158730159 ENSG00000106028 chr7:141742175-141742175;C/T missense_variant False SSB@p.E212K 1 0.25 ENSG00000138385 chr2:169808867-169808867;G/A missense_variant False SRSF7@p.R145C 1 0.113402062 ENSG00000115875 chr2:38748607-38748607;G/A missense_variant False SS18L2@p.R11T 1 0.191176471 ENSG00000008324 chr3:42590929-42590929;G/C missense_variant False SS18@p.Q257K 1 0.151515152 ENSG00000141380 chr18:26039295-26039295;G/T missense_variant False SS18@p.Q240H 1 0.104166667 ENSG00000141380 chr18:26039344-26039344;T/A missense_variant False SRSF9@p.E42K 1 0.23255814 ENSG00000111786 chr12:120469486-120469486;C/T missense_variant False SRSF9@p.E133K 1 0.22173913 ENSG00000111786 chr12:120464075-120464075;C/T missense_variant False SRSF8@p.S228F 1 0.310344828 ENSG00000263465 chr11:95067909-95067909;C/T missense_variant False SSBP4@p.A73S 1 0.095238095 ENSG00000130511 chr19:18427920-18427920;G/T missense_variant False SSBP4@p.S254C 1 0.333333333 ENSG00000130511 chr19:18432710-18432710;C/G missense_variant False SSC4D@p.E6K 1 0.119047619 ENSG00000146700 chr7:76404424-76404424;C/T missense_variant False SSH1@p.G729V 1 0.071428571 ENSG00000084112 chr12:108788952-108788952;C/A missense_variant False SSH1@p.N347Ifs*10 1 0.232 ENSG00000084112 chr12:108800887-108800888;AT/- frameshift_variant False SSH1@p.Q117H 1 0.174698795 ENSG00000084112 chr12:108817088-108817088;C/G missense_variant False SSH2@p.D568H 1 0.244274809 ENSG00000141298 chr17:29636447-29636447;C/G missense_variant False SSH2@p.D902N 1 0.050377834 ENSG00000141298 chr17:29632409-29632409;C/T missense_variant False SSH2@p.E1165Q 1 0.418181818 ENSG00000141298 chr17:29631620-29631620;C/G missense_variant False SSH2@p.E222K 1 0.075 ENSG00000141298 chr17:29671999-29671999;C/T missense_variant False SSH2@p.E353Q 1 0.222222222 ENSG00000141298 chr17:29650742-29650742;C/G missense_variant False SSH2@p.E791Q 1 0.113043478 ENSG00000141298 chr17:29632742-29632742;C/G missense_variant False SSH2@p.G770A 1 0.318181818 ENSG00000141298 chr17:29632804-29632804;C/G missense_variant False SSH2@p.H964N 1 0.531914894 ENSG00000141298 chr17:29632223-29632223;G/T missense_variant False SSH2@p.M436I 1 0.317073171 ENSG00000141298 chr17:29648182-29648182;C/G missense_variant False SSH2@p.R417Q 1 0.111111111 ENSG00000141298 chr17:29648240-29648240;C/T missense_variant False SSH2@p.S1322C 1 0.101694915 ENSG00000141298 chr17:29631148-29631148;G/C missense_variant False SRSF8@p.M13I 1 0.333333333 ENSG00000263465 chr11:95067265-95067265;G/A missense_variant False SRSF6@p.V150L 1 0.153846154 ENSG00000124193 chr20:43460099-43460099;G/T missense_variant False SRRM4@p.R218H 1 0.461538462 ENSG00000139767 chr12:119130716-119130716;G/A missense_variant False SRRT@p.S553L 1 0.236842105 ENSG00000087087 chr7:100886805-100886805;C/T missense_variant False SRSF1@p.D151H 1 0.159292035 ENSG00000136450 chr17:58005902-58005902;C/G missense_variant False SRSF12@p.S2F 1 0.363636364 ENSG00000154548 chr6:89117883-89117883;G/A missense_variant False SRSF12@p.S217F 1 0.487341772 ENSG00000154548 chr6:89098714-89098714;G/A missense_variant False SRSF12@p.S176C 1 0.523809524 ENSG00000154548 chr6:89098837-89098837;G/C missense_variant False SRSF11@p.E435K 1 0.06097561 ENSG00000116754 chr1:70250653-70250653;G/A missense_variant False SRSF11@p.E33K 1 0.233333333 ENSG00000116754 chr1:70221733-70221733;G/A missense_variant False SRRT@p.S21del 1 0.212121212 ENSG00000087087 chr7:100875649-100875651;GCA/- inframe_deletion False SRSF6@p.R199Q 1 0.449541284 ENSG00000124193 chr20:43460520-43460520;G/A missense_variant False SRRT@p.R17K 1 0.19047619 ENSG00000087087 chr7:100875640-100875640;G/A missense_variant False SRRT@p.Q77R 1 0.395604396 ENSG00000087087 chr7:100881392-100881392;A/G missense_variant False SRRT@p.Q218H 1 0.455882353 ENSG00000087087 chr7:100884136-100884136;A/C missense_variant False SRRT@p.P584T 1 0.228571429 ENSG00000087087 chr7:100886897-100886897;C/A missense_variant False SRRT@p.K848T 1 0.461538462 ENSG00000087087 chr7:100888371-100888371;A/C missense_variant False SRRT@p.D5N 1 0.121212121 ENSG00000087087 chr7:100875603-100875603;G/A missense_variant False SRSF1@p.D195H 1 0.084745763 ENSG00000136450 chr17:58005570-58005570;C/G missense_variant False SRSF1@p.G106E 1 0.14893617 ENSG00000136450 chr17:58006405-58006405;C/T missense_variant False SRSF1@p.G53V 1 0.34 ENSG00000136450 chr17:58006980-58006980;C/A missense_variant False SRSF1@p.S133C 1 0.433333333 ENSG00000136450 chr17:58005956-58005956;T/A missense_variant False SRSF1@p.S238F 1 0.25 ENSG00000136450 chr17:58005440-58005440;G/A missense_variant False SRSF2@p.E215K 1 0.183486239 ENSG00000161547 chr17:76736184-76736184;C/T missense_variant True SRSF2@p.R129L 1 0.141414141 ENSG00000161547 chr17:76736441-76736441;C/A missense_variant True SRSF2@p.R167Q 1 0.1953125 ENSG00000161547 chr17:76736327-76736327;C/T missense_variant True SRSF2@p.R205L 1 0.246031746 ENSG00000161547 chr17:76736213-76736213;C/A missense_variant True SRSF3@p.D55H 1 0.214285714 ENSG00000112081 chr6:36596925-36596925;G/C missense_variant False SRSF3@p.R155C 1 0.318681319 ENSG00000112081 chr6:36601790-36601790;C/T missense_variant False SRSF4@p.K355N 1 0.166666667 ENSG00000116350 chr1:29148830-29148830;C/G missense_variant False SRSF4@p.R197Q 1 0.408839779 ENSG00000116350 chr1:29150181-29150181;C/T missense_variant False SRSF4@p.R314Q 1 0.529411765 ENSG00000116350 chr1:29148954-29148954;C/T missense_variant False SRSF6@p.E109Q 1 0.39516129 ENSG00000124193 chr20:43459839-43459839;G/C missense_variant False SRSF6@p.E43Q 1 0.291666667 ENSG00000124193 chr20:43458380-43458380;G/C missense_variant False SRSF6@p.R174T 1 0.189189189 ENSG00000124193 chr20:43460172-43460172;G/C missense_variant False SRP68@p.S522L 1 0.469273743 ENSG00000167881 chr17:76040938-76040938;G/A missense_variant False SRP68@p.S27N 1 0.329787234 ENSG00000167881 chr17:76072412-76072412;C/T missense_variant False SRP68@p.R150Q 1 0.479166667 ENSG00000167881 chr17:76064088-76064088;C/T missense_variant False SRCAP@p.G287E 1 0.3125 ENSG00000080603 chr16:30709854-30709854;G/A missense_variant False SRCAP@p.P2502S 1 0.482758621 ENSG00000080603 chr16:30737544-30737544;C/T missense_variant False SRCAP@p.P1630S 1 0.307692308 ENSG00000080603 chr16:30724312-30724312;C/T missense_variant False SRCAP@p.L964V 1 0.296819788 ENSG00000080603 chr16:30720234-30720234;C/G missense_variant False SRCAP@p.L1525V 1 0.081632653 ENSG00000080603 chr16:30723997-30723997;C/G missense_variant False SRCAP@p.K3080N 1 0.263888889 ENSG00000080603 chr16:30739280-30739280;G/C missense_variant False SRCAP@p.I2481M 1 0.266666667 ENSG00000080603 chr16:30737483-30737483;C/G missense_variant False SRCAP@p.E98K 1 0.14516129 ENSG00000080603 chr16:30704301-30704301;G/A missense_variant False SRCAP@p.A3097V 1 0.217391304 ENSG00000080603 chr16:30739330-30739330;C/T missense_variant False SRCAP@p.E704K 1 0.384259259 ENSG00000080603 chr16:30712795-30712795;G/A missense_variant False SRCAP@p.E592Q 1 0.325925926 ENSG00000080603 chr16:30712116-30712116;G/C missense_variant False SRCAP@p.E366K 1 0.230769231 ENSG00000080603 chr16:30710090-30710090;G/A missense_variant False SRCAP@p.E2760K 1 0.091954023 ENSG00000080603 chr16:30738318-30738318;G/A missense_variant False SRCAP@p.E2227K 1 0.103448276 ENSG00000080603 chr16:30734565-30734565;G/A missense_variant False SRCAP@p.E1031Q 1 0.176923077 ENSG00000080603 chr16:30720816-30720816;G/C missense_variant False SRCAP@p.P2881A 1 0.16 ENSG00000080603 chr16:30738681-30738681;C/G missense_variant False SRCAP@p.P2881S 1 0.430769231 ENSG00000080603 chr16:30738681-30738681;C/T missense_variant False SRCAP@p.P2942L 1 0.153846154 ENSG00000080603 chr16:30738865-30738865;C/T missense_variant False SRCAP@p.P48L 1 0.333333333 ENSG00000080603 chr16:30704152-30704152;C/T missense_variant False SRCAP@p.Q253H 1 0.116504854 ENSG00000080603 chr16:30709638-30709638;G/C missense_variant False SRCAP@p.Q290E 1 0.135135135 ENSG00000080603 chr16:30709862-30709862;C/G missense_variant False SRCAP@p.Q317H 1 0.128205128 ENSG00000080603 chr16:30709945-30709945;G/C missense_variant False SRCAP@p.Q375K 1 0.102040816 ENSG00000080603 chr16:30710117-30710117;C/A missense_variant False SRCAP@p.R2110C 1 0.174757282 ENSG00000080603 chr16:30733632-30733632;C/T missense_variant False SRCAP@p.R2868S 1 0.173913043 ENSG00000080603 chr16:30738644-30738644;G/T missense_variant False SRCAP@p.R3041L 1 0.2 ENSG00000080603 chr16:30739162-30739162;G/T missense_variant False SRCAP@p.R971L 1 0.164835165 ENSG00000080603 chr16:30720256-30720256;G/T missense_variant False SRCAP@p.S2092C 1 0.172413793 ENSG00000080603 chr16:30733427-30733427;C/G missense_variant False SRCAP@p.S2560C 1 0.274193548 ENSG00000080603 chr16:30737719-30737719;C/G missense_variant False SRCIN1@p.E895K 1 0.333333333 ENSG00000277363 chr17:38552032-38552032;C/T missense_variant False SRCIN1@p.P899H 1 0.186813187 ENSG00000277363 chr17:38552019-38552019;G/T missense_variant False SRCIN1@p.R55G 1 0.555555556 ENSG00000277363 chr17:38578651-38578651;G/C missense_variant False SRCAP@p.D746H 1 0.424489796 ENSG00000080603 chr16:30713313-30713313;G/C missense_variant False SRC@p.V340L 1 0.107692308 ENSG00000197122 chr20:37400273-37400273;G/C missense_variant False SRCIN1@p.S1069L 1 0.362831858 ENSG00000277363 chr17:38549069-38549069;G/A missense_variant False SPTSSB@p.L3F 1 0.4 ENSG00000196542 chr3:161346315-161346315;C/G missense_variant False SPZ1@p.Q333H 1 0.278481013 ENSG00000164299 chr5:80321214-80321214;G/C missense_variant False SPX@p.I81F 1 0.126582278 ENSG00000134548 chr12:21529033-21529033;A/T missense_variant False SPTY2D1@p.T240R 1 0.277777778 ENSG00000179119 chr11:18615555-18615555;G/C missense_variant False SPTY2D1@p.S278C 1 0.25 ENSG00000179119 chr11:18615441-18615441;G/C missense_variant False SPTY2D1@p.E262K 1 0.607142857 ENSG00000179119 chr11:18615490-18615490;C/T missense_variant False SPTY2D1@p.E209K 1 0.292682927 ENSG00000179119 chr11:18615649-18615649;C/T missense_variant False SPTSSA@p.Y66C 1 0.260869565 ENSG00000165389 chr14:34435220-34435220;T/C missense_variant False SRC@p.T101A 1 0.289617486 ENSG00000197122 chr20:37386125-37386125;A/G missense_variant False SPTLC3@p.V471* 1 0.226086957 ENSG00000172296 chr20:13154130-13154130;T/- frameshift_variant False SPTLC3@p.I122M 1 0.317567568 ENSG00000172296 chr20:13072318-13072318;C/G missense_variant False SPTLC3@p.H393Y 1 0.088607595 ENSG00000172296 chr20:13126615-13126615;C/T missense_variant False SPTLC3@p.F272L 1 0.174603175 ENSG00000172296 chr20:13093567-13093567;C/G missense_variant False SPTLC3@p.F138L 1 0.291970803 ENSG00000172296 chr20:13072364-13072364;T/C missense_variant False SPTLC2@p.G497A 1 0.385714286 ENSG00000100596 chr14:77518117-77518117;C/G missense_variant False SQLE@p.E351Q 1 0.232142857 ENSG00000104549 chr8:125009286-125009286;G/C missense_variant False SQLE@p.I197T 1 0.568627451 ENSG00000104549 chr8:125005570-125005570;T/C missense_variant False SQLE@p.V126L 1 0.115384615 ENSG00000104549 chr8:125003260-125003260;G/C missense_variant False SQSTM1@p.S152C 1 0.291666667 ENSG00000161011 chr5:179824010-179824010;A/T missense_variant False SQSTM1@p.S397F 1 0.102040816 ENSG00000161011 chr5:179836460-179836460;C/T missense_variant False SQSTM1@p.S3L 1 0.25 ENSG00000161011 chr5:179820944-179820944;C/T missense_variant False SRA1@p.D29N 1 0.326530612 ENSG00000213523 chr5:140557249-140557249;C/T missense_variant False SRA1@p.R116T 1 0.234375 ENSG00000213523 chr5:140552025-140552025;C/G missense_variant False SRARP@p.E20Q 1 0.666666667 ENSG00000183888 chr1:16004361-16004361;G/C missense_variant False SRARP@p.P111L 1 0.115384615 ENSG00000183888 chr1:16006168-16006168;C/T missense_variant False SRBD1@p.E864Q 1 0.146067416 ENSG00000068784 chr2:45393053-45393053;C/G missense_variant False SRBD1@p.K182N 1 0.184952978 ENSG00000068784 chr2:45599551-45599551;C/G missense_variant False SRBD1@p.K451M 1 0.151785714 ENSG00000068784 chr2:45562710-45562710;T/A missense_variant False SRBD1@p.P48S 1 0.677966102 ENSG00000068784 chr2:45602022-45602022;G/A missense_variant False SRC@p.E181K 1 0.094339623 ENSG00000197122 chr20:37394265-37394265;G/A missense_variant False SRC@p.G26S 1 0.150943396 ENSG00000197122 chr20:37384229-37384229;G/A missense_variant False SRC@p.R391C 1 0.111111111 ENSG00000197122 chr20:37402489-37402489;C/T missense_variant False SRCIN1@p.R689Q 1 0.25 ENSG00000277363 chr17:38559646-38559646;C/T missense_variant False SRD5A1@p.E60K 1 0.333333333 ENSG00000145545 chr5:6633754-6633754;G/A missense_variant False SRP68@p.Q81R 1 0.153846154 ENSG00000167881 chr17:76070387-76070387;T/C missense_variant False SRGAP3@p.E524K 1 0.264900662 ENSG00000196220 chr3:9026965-9026965;C/T missense_variant False SRL@p.E323K 1 0.435483871 ENSG00000185739 chr16:4192608-4192608;C/T missense_variant False SRL@p.E284Q 1 0.340659341 ENSG00000185739 chr16:4192725-4192725;C/G missense_variant False SRGN@p.L50F 1 0.354166667 ENSG00000122862 chr10:69097152-69097152;C/T missense_variant False SRGN@p.D127N 1 0.08 ENSG00000122862 chr10:69104022-69104022;G/A missense_variant False SRGAP3@p.G788S 1 0.542857143 ENSG00000196220 chr3:8994389-8994389;C/T missense_variant False SRGAP3@p.E62K 1 0.3125 ENSG00000196220 chr3:9124801-9124801;C/T missense_variant False SRGAP3@p.E409Q 1 0.247058824 ENSG00000196220 chr3:9053125-9053125;C/G missense_variant False SRGAP1@p.M649I 1 0.34375 ENSG00000196935 chr12:64111789-64111789;G/T missense_variant False SRGAP2@p.S875Y 1 0.205128205 ENSG00000266028 chr1:206458742-206458742;C/A missense_variant False SRGAP2@p.R814I 1 0.287769784 ENSG00000266028 chr1:206454961-206454961;G/T missense_variant False SRGAP2@p.L566R 1 0.121212121 ENSG00000266028 chr1:206438030-206438030;T/G missense_variant False SRGAP2@p.G1015V 1 0.285714286 ENSG00000266028 chr1:206461251-206461251;G/T missense_variant False SRGAP2@p.E665Q 1 0.156521739 ENSG00000266028 chr1:206446196-206446196;G/C missense_variant False SRGAP2@p.A815V 1 0.410714286 ENSG00000266028 chr1:206454964-206454964;C/T missense_variant False SRL@p.R325K 1 0.061643836 ENSG00000185739 chr16:4192601-4192601;C/T missense_variant False SRM@p.G67S 1 0.384615385 ENSG00000116649 chr1:11059314-11059314;C/T missense_variant False SRM@p.K134N 1 0.179104478 ENSG00000116649 chr1:11056737-11056737;C/A missense_variant False SRMS@p.E469K 1 0.591397849 ENSG00000125508 chr20:63540880-63540880;C/T missense_variant False SRMS@p.G251D 1 0.307692308 ENSG00000125508 chr20:63542475-63542475;C/T missense_variant False SRMS@p.N37Tfs*34 1 0.321428571 ENSG00000125508 chr20:63547356-63547356;G/- frameshift_variant False SRP19@p.V60I 1 0.511627907 ENSG00000153037 chr5:112864517-112864517;G/A missense_variant False SRP54@p.D238H 1 0.28 ENSG00000100883 chr14:35013421-35013421;G/C missense_variant False SRP54@p.D445N 1 1.0 ENSG00000100883 chr14:35028093-35028093;G/A missense_variant False SRP68@p.E200Q 1 0.884615385 ENSG00000167881 chr17:76061538-76061538;C/G missense_variant False SRP68@p.E239K 1 0.404040404 ENSG00000167881 chr17:76061149-76061149;C/T missense_variant False SRP68@p.E271K 1 0.103448276 ENSG00000167881 chr17:76060334-76060334;C/T missense_variant False SRP68@p.E412K 1 0.74893617 ENSG00000167881 chr17:76046103-76046103;C/T missense_variant False SRP68@p.E4K 1 0.221238938 ENSG00000167881 chr17:76072482-76072482;C/T missense_variant False SRP68@p.I392M 1 0.131578947 ENSG00000167881 chr17:76046161-76046161;G/C missense_variant False SRP68@p.M263I 1 0.176470588 ENSG00000167881 chr17:76060356-76060356;C/T missense_variant False SRP68@p.P8Qfs*51 1 0.134020619 ENSG00000167881 chr17:76072469-76072469;G/- frameshift_variant False SRGAP1@p.R1045T 1 0.15 ENSG00000196935 chr12:64142548-64142548;G/C missense_variant False SRGAP1@p.G1070V 1 0.080808081 ENSG00000196935 chr12:64142623-64142623;G/T missense_variant False SRD5A1@p.L163F 1 0.35 ENSG00000145545 chr5:6656106-6656106;G/T missense_variant False SREBF2@p.D465Mfs*13 1 0.366336634 ENSG00000198911 chr22:41877235-41877235;G/- frameshift_variant False SREBF2@p.L457V 1 0.513888889 ENSG00000198911 chr22:41875707-41875707;C/G missense_variant False SREBF2@p.G82R 1 0.319148936 ENSG00000198911 chr22:41866986-41866986;G/A missense_variant False SREBF2@p.G65D 1 0.392156863 ENSG00000198911 chr22:41866936-41866936;G/A missense_variant False SREBF2@p.E715Q 1 0.41025641 ENSG00000198911 chr22:41884946-41884946;G/C missense_variant False SREBF2@p.E309Q 1 0.512820513 ENSG00000198911 chr22:41873855-41873855;G/C missense_variant False SREBF2@p.D614N 1 0.136363636 ENSG00000198911 chr22:41880794-41880794;G/A missense_variant False SREBF1@p.S396F 1 0.950819672 ENSG00000072310 chr17:17817913-17817913;G/A missense_variant False SRGAP1@p.E409Q 1 0.483146067 ENSG00000196935 chr12:64079018-64079018;G/C missense_variant False SREBF1@p.A93V 1 0.29787234 ENSG00000072310 chr17:17820335-17820335;G/A missense_variant False SRD5A3@p.P105A 1 0.58490566 ENSG00000128039 chr4:55359437-55359437;C/G missense_variant False SRD5A3@p.H139D 1 0.333333333 ENSG00000128039 chr4:55364124-55364124;C/G missense_variant False SRD5A3@p.E146K 1 0.25 ENSG00000128039 chr4:55364145-55364145;G/A missense_variant False SRD5A2@p.A217E 1 0.395348837 ENSG00000277893 chr2:31529355-31529355;G/T missense_variant False SRD5A1@p.R53Q 1 0.4 ENSG00000145545 chr5:6633734-6633734;G/A missense_variant False SREBF2@p.Q144E 1 0.19047619 ENSG00000198911 chr22:41867172-41867172;C/G missense_variant False SREK1@p.E332Q 1 0.454545455 ENSG00000153914 chr5:66170805-66170805;G/C missense_variant False SREK1@p.E353Kfs*47 1 0.447761194 ENSG00000153914 chr5:66170868-66170868;G/- frameshift_variant False SREK1@p.L19F 1 0.161290323 ENSG00000153914 chr5:66159328-66159328;G/C missense_variant False SREK1@p.R355I 1 0.464788732 ENSG00000153914 chr5:66170875-66170875;G/T missense_variant False SREK1@p.R355S 1 0.47826087 ENSG00000153914 chr5:66170876-66170876;A/C missense_variant False SREK1IP1@p.N30S 1 0.65 ENSG00000153006 chr5:64741173-64741173;T/C missense_variant False SRF@p.E242K 1 0.272727273 ENSG00000112658 chr6:43174057-43174057;G/A missense_variant False SRF@p.E252K 1 0.366666667 ENSG00000112658 chr6:43174087-43174087;G/A missense_variant False SRF@p.S333F 1 0.428571429 ENSG00000112658 chr6:43175923-43175923;C/T missense_variant False SRF@p.T244R 1 0.294117647 ENSG00000112658 chr6:43174064-43174064;C/G missense_variant False SRFBP1@p.D81N 1 0.555555556 ENSG00000151304 chr5:121994641-121994641;G/A missense_variant False SRFBP1@p.E85K 1 0.357142857 ENSG00000151304 chr5:121994653-121994653;G/A missense_variant False SRFBP1@p.M65I 1 0.431578947 ENSG00000151304 chr5:121975384-121975384;G/A missense_variant False SRFBP1@p.N379_K384del 1 0.140350877 ENSG00000151304 chr5:122026968-122026985;AAGAATCAGTTTAATAAG/- inframe_deletion False SRGAP1@p.E292Q 1 0.274509804 ENSG00000196935 chr12:64062989-64062989;G/C missense_variant False SRGAP1@p.E297K 1 0.4 ENSG00000196935 chr12:64063004-64063004;G/A missense_variant False SSH3@p.E135K 1 0.125 ENSG00000172830 chr11:67306901-67306901;G/A missense_variant False SSH3@p.E301K 1 0.3 ENSG00000172830 chr11:67308189-67308189;G/A missense_variant False STAT3@p.Q274E 1 0.333333333 ENSG00000168610 chr17:42334027-42334027;G/C missense_variant False STAG1@p.L354V 1 0.306666667 ENSG00000118007 chr3:136473604-136473604;G/C missense_variant False STAG1@p.S693P 1 0.194805195 ENSG00000118007 chr3:136421124-136421124;A/G missense_variant False STAG1@p.S323C 1 0.644230769 ENSG00000118007 chr3:136477348-136477348;T/A missense_variant False STAG1@p.R373P 1 0.18 ENSG00000118007 chr3:136473546-136473546;C/G missense_variant False STAG1@p.R1101S 1 0.12962963 ENSG00000118007 chr3:136343975-136343975;C/G missense_variant False STAG1@p.L692P 1 0.194968553 ENSG00000118007 chr3:136421126-136421126;A/G missense_variant False STAG1@p.L525R 1 0.317073171 ENSG00000118007 chr3:136433632-136433632;A/C missense_variant False STAG1@p.K57N 1 0.1875 ENSG00000118007 chr3:136604435-136604435;C/G missense_variant False STAG1@p.Y198H 1 0.135338346 ENSG00000118007 chr3:136521297-136521297;A/G missense_variant False STAG1@p.K1020N 1 0.339285714 ENSG00000118007 chr3:136357725-136357725;C/G missense_variant False STAG1@p.I148M 1 0.409090909 ENSG00000118007 chr3:136542146-136542146;G/C missense_variant False STAG1@p.G209C 1 0.466666667 ENSG00000118007 chr3:136521264-136521264;C/A missense_variant False STAG1@p.G168R 1 0.260869565 ENSG00000118007 chr3:136521387-136521387;C/T missense_variant False STAG1@p.G168E 1 0.260869565 ENSG00000118007 chr3:136521386-136521386;C/T missense_variant False STAG1@p.G1080E 1 0.080357143 ENSG00000118007 chr3:136349190-136349190;C/T missense_variant False STAG1@p.T547S 1 0.325 ENSG00000118007 chr3:136433567-136433567;T/A missense_variant False STAG2@p.A214V 1 0.468309859 ENSG00000101972 chrX:124045342-124045342;C/T missense_variant True SSH3@p.E341Q 1 0.25 ENSG00000172830 chr11:67308418-67308418;G/C missense_variant False STAG2@p.E1187_D1192del 1 0.2 ENSG00000101972 chrX:124094107-124094124;ATGAGGGAATGGATTTTG/- inframe_deletion True STAG2@p.K917* 1 0.661290323 ENSG00000101972 chrX:124078030-124078031;-/T frameshift_variant True STAG2@p.K870Ifs*21 1 0.666666667 ENSG00000101972 chrX:124076402-124076412;TTGTAAGCTAA/- frameshift_variant True STAG2@p.K330Ifs*8 1 0.685714286 ENSG00000101972 chrX:124050279-124050280;AA/- frameshift_variant True STAG2@p.I563M 1 0.888888889 ENSG00000101972 chrX:124062952-124062952;C/G missense_variant True STAG2@p.I191M 1 0.944134078 ENSG00000101972 chrX:124045274-124045274;A/G missense_variant True STAG2@p.E643Lfs*14 1 0.833333333 ENSG00000101972 chrX:124063953-124063963;GAGTTCACAAT/- frameshift_variant True STAG2@p.E1147Dfs*16 1 0.4375 ENSG00000101972 chrX:124090737-124090737;A/- frameshift_variant True STAG2@p.C772R 1 0.404444444 ENSG00000101972 chrX:124068612-124068612;T/C missense_variant True STAG2@p.E1135Ifs*21 1 0.24 ENSG00000101972 chrX:124090699-124090720;TGAGGATAGCTTCATGAGTGTT/- frameshift_variant True STAG2@p.D850E 1 0.129032258 ENSG00000101972 chrX:124076348-124076348;T/A missense_variant True STAG2@p.D409H 1 0.197183099 ENSG00000101972 chrX:124056156-124056156;G/C missense_variant True STAG2@p.D24H 1 0.382022472 ENSG00000101972 chrX:124025865-124025865;G/C missense_variant True STAG2@p.D209Vfs*29 1 0.605263158 ENSG00000101972 chrX:124045327-124045328;AC/- frameshift_variant True STAG2@p.D101Lfs*8 1 0.803030303 ENSG00000101972 chrX:124037539-124037540;GA/- frameshift_variant True STAG1@p.E954Q 1 0.532258065 ENSG00000118007 chr3:136359224-136359224;C/G missense_variant False STAG1@p.E569K 1 0.11627907 ENSG00000118007 chr3:136422990-136422990;C/T missense_variant False STAG1@p.E449K 1 0.282828283 ENSG00000118007 chr3:136452116-136452116;C/T missense_variant False STAB2@p.E937K 1 0.525423729 ENSG00000136011 chr12:103683208-103683208;G/A missense_variant False STAB2@p.S1193Y 1 0.31884058 ENSG00000136011 chr12:103695840-103695840;C/A missense_variant False STAB2@p.R2340Q 1 0.264705882 ENSG00000136011 chr12:103758201-103758201;G/A missense_variant False STAB2@p.R1865Q 1 0.1875 ENSG00000136011 chr12:103737677-103737677;G/A missense_variant False STAB2@p.N801D 1 0.448598131 ENSG00000136011 chr12:103673936-103673936;A/G missense_variant False STAB2@p.N1242S 1 0.285714286 ENSG00000136011 chr12:103703158-103703158;A/G missense_variant False STAB2@p.G1837C 1 0.177777778 ENSG00000136011 chr12:103735539-103735539;G/T missense_variant False STAB2@p.E42K 1 0.547619048 ENSG00000136011 chr12:103590939-103590939;G/A missense_variant False STAG1@p.E197K 1 0.057471264 ENSG00000118007 chr3:136521300-136521300;C/T missense_variant False STAB2@p.E309Q 1 0.266666667 ENSG00000136011 chr12:103640141-103640141;G/C missense_variant False STAB2@p.D2423N 1 0.2 ENSG00000136011 chr12:103761318-103761318;G/A missense_variant False STAB2@p.D1709A 1 0.397590361 ENSG00000136011 chr12:103730159-103730159;A/C missense_variant False STAB1@p.Y561C 1 0.285714286 ENSG00000010327 chr3:52505768-52505768;A/G missense_variant False STAB1@p.S46W 1 0.102112676 ENSG00000010327 chr3:52501224-52501224;C/G missense_variant False STAB1@p.S405Y 1 0.1875 ENSG00000010327 chr3:52504524-52504524;C/A missense_variant False STAB2@p.S1231N 1 0.4 ENSG00000136011 chr12:103699205-103699205;G/A missense_variant False STAB2@p.S2109N 1 0.293478261 ENSG00000136011 chr12:103749044-103749044;G/A missense_variant False STAB2@p.T2229I 1 0.306122449 ENSG00000136011 chr12:103753325-103753325;C/T missense_variant False STAC2@p.E206D 1 0.295454545 ENSG00000141750 chr17:39215199-39215199;C/G missense_variant False STAC2@p.E251Q 1 0.092307692 ENSG00000141750 chr17:39214972-39214972;C/G missense_variant False STAC2@p.M371I 1 0.151162791 ENSG00000141750 chr17:39213013-39213013;C/T missense_variant False STAC3@p.E217Q 1 0.0875 ENSG00000185482 chr12:57245166-57245166;C/G missense_variant False STAC3@p.E340K 1 0.217391304 ENSG00000185482 chr12:57243889-57243889;C/T missense_variant False STAC3@p.E75K 1 0.129032258 ENSG00000185482 chr12:57249152-57249152;C/T missense_variant False STAC3@p.Q138H 1 0.397408207 ENSG00000185482 chr12:57248724-57248724;C/G missense_variant False STAC3@p.V334M 1 0.172413793 ENSG00000185482 chr12:57243907-57243907;C/T missense_variant False STAC@p.E201K 1 0.344537815 ENSG00000144681 chr3:36486163-36486163;G/A missense_variant False STAC@p.E238Q 1 0.10619469 ENSG00000144681 chr3:36493175-36493175;G/C missense_variant False STAC@p.E376K 1 0.131578947 ENSG00000144681 chr3:36546206-36546206;G/A missense_variant False STAC@p.Q363H 1 0.509803922 ENSG00000144681 chr3:36528964-36528964;G/C missense_variant False STAC@p.V398I 1 0.142857143 ENSG00000144681 chr3:36546272-36546272;G/A missense_variant False STAC@p.Y294C 1 0.482758621 ENSG00000144681 chr3:36505795-36505795;A/G missense_variant False STAG2@p.L432F 1 0.961538462 ENSG00000101972 chrX:124056225-124056225;C/T missense_variant True STAG2@p.L776P 1 0.442857143 ENSG00000101972 chrX:124068625-124068625;T/C missense_variant True STAG2@p.M1139I 1 0.116666667 ENSG00000101972 chrX:124090714-124090714;G/A missense_variant True STARD3NL@p.E38Q 1 0.318518519 ENSG00000010270 chr7:38207616-38207616;G/C missense_variant False STARD7@p.S53L 1 0.391304348 ENSG00000084090 chr2:96208277-96208277;G/A missense_variant False STARD7@p.R189T 1 0.30625 ENSG00000084090 chr2:96193336-96193336;C/G missense_variant False STARD5@p.H177R 1 0.397660819 ENSG00000172345 chr15:81313368-81313368;T/C missense_variant False STARD5@p.F176L 1 0.320512821 ENSG00000172345 chr15:81313370-81313370;G/T missense_variant False STARD4@p.S85C 1 0.230769231 ENSG00000164211 chr5:111501990-111501990;G/C missense_variant False STARD4@p.R178S 1 0.38028169 ENSG00000164211 chr5:111499972-111499972;G/T missense_variant False STARD3@p.D11N 1 0.183673469 ENSG00000131748 chr17:39653562-39653562;G/A missense_variant False STAR@p.I31V 1 0.516666667 ENSG00000147465 chr8:38148728-38148728;T/C missense_variant False STARD13@p.R165Q 1 0.176470588 ENSG00000133121 chr13:33130183-33130183;C/T missense_variant False STARD13@p.Q804E 1 0.413793103 ENSG00000133121 chr13:33112803-33112803;G/C missense_variant False STARD13@p.Q4E 1 0.064285714 ENSG00000133121 chr13:33285629-33285629;G/C missense_variant False STARD13@p.E744Q 1 0.129411765 ENSG00000133121 chr13:33118116-33118116;C/G missense_variant False STARD13@p.E264K 1 0.344827586 ENSG00000133121 chr13:33129887-33129887;C/T missense_variant False STARD10@p.P122A 1 0.130434783 ENSG00000214530 chr11:72758625-72758625;G/C missense_variant False STARD8@p.E460K 1 0.533333333 ENSG00000130052 chrX:68718532-68718532;G/A missense_variant False STARD8@p.E67K 1 0.333333333 ENSG00000130052 chrX:68717353-68717353;G/A missense_variant False STARD8@p.R327W 1 0.638888889 ENSG00000130052 chrX:68718133-68718133;C/T missense_variant False STARD8@p.S610F 1 0.4625 ENSG00000130052 chrX:68720943-68720943;C/T missense_variant False STAT1@p.D575N 1 0.090909091 ENSG00000115415 chr2:190979776-190979776;C/T missense_variant False STAT1@p.D732H 1 0.14 ENSG00000115415 chr2:190974874-190974874;C/G missense_variant False STAT1@p.E403K 1 0.415178571 ENSG00000115415 chr2:190986868-190986868;C/T missense_variant False STAT1@p.E480K 1 0.41221374 ENSG00000115415 chr2:190983650-190983650;C/T missense_variant False STAT1@p.E733K 1 0.333333333 ENSG00000115415 chr2:190974871-190974871;C/T missense_variant False STAT1@p.K511E 1 0.460176991 ENSG00000115415 chr2:190982434-190982434;T/C missense_variant False STAT1@p.L514F 1 0.135483871 ENSG00000115415 chr2:190982425-190982425;G/A missense_variant False STAT1@p.L514V 1 0.258503401 ENSG00000115415 chr2:190982425-190982425;G/C missense_variant False STAT1@p.R649H 1 0.067226891 ENSG00000115415 chr2:190976953-190976953;C/T missense_variant False STAT2@p.G296R 1 0.080924855 ENSG00000170581 chr12:56351347-56351347;C/T missense_variant False STAT2@p.R343Q 1 0.573770492 ENSG00000170581 chr12:56351104-56351104;C/T missense_variant False STAT3@p.E435K 1 0.066666667 ENSG00000168610 chr17:42326178-42326178;C/T missense_variant False STAT3@p.E444K 1 0.164383562 ENSG00000168610 chr17:42326151-42326151;C/T missense_variant False STARD10@p.K93N 1 0.38028169 ENSG00000214530 chr11:72759310-72759310;C/A missense_variant False STAP2@p.T115M 1 0.5 ENSG00000178078 chr19:4332032-4332032;G/A missense_variant False STAG2@p.N986Sfs*15 1 0.964285714 ENSG00000101972 chrX:124083451-124083453;TAA/C frameshift_variant True STAG2@p.Y600Ifs*35 1 0.641509434 ENSG00000101972 chrX:124063180-124063181;-/A frameshift_variant True STAM2@p.D218H 1 0.327868852 ENSG00000115145 chr2:152143879-152143879;C/G missense_variant False STAM2@p.D167V 1 0.243243243 ENSG00000115145 chr2:152144905-152144905;T/A missense_variant False STAG3@p.V671L 1 0.151162791 ENSG00000292277 chr7:100200919-100200919;G/T missense_variant False STAG3@p.M155I 1 0.164233577 ENSG00000292277 chr7:100188484-100188484;G/A missense_variant False STAG3@p.E596K 1 0.207792208 ENSG00000292277 chr7:100200468-100200468;G/A missense_variant False STAG3@p.E117Q 1 0.13618677 ENSG00000292277 chr7:100186212-100186212;G/C missense_variant False STAG2@p.Y328* 1 0.942028986 ENSG00000101972 chrX:124050273-124050276;TTAT/- frameshift_variant True STAP2@p.E69Q 1 0.5 ENSG00000178078 chr19:4333786-4333786;C/G missense_variant False STAG2@p.Y1044Tfs*6 1 0.671428571 ENSG00000101972 chrX:124086622-124086622;T/- frameshift_variant True STAG2@p.T626Nfs*9 1 0.328244275 ENSG00000101972 chrX:124063901-124063902;-/A frameshift_variant True STAG2@p.T406Lfs*19 1 0.495145631 ENSG00000101972 chrX:124056144-124056146;CTC/TT frameshift_variant True STAG2@p.S208Y 1 0.794642857 ENSG00000101972 chrX:124045324-124045324;C/A missense_variant True STAG2@p.R766K 1 0.633928571 ENSG00000101972 chrX:124068595-124068595;G/A missense_variant True STAG2@p.R370W 1 0.454545455 ENSG00000101972 chrX:124051211-124051211;C/T missense_variant True STAM2@p.D25Y 1 0.333333333 ENSG00000115145 chr2:152150197-152150197;C/A missense_variant False STAM2@p.G226C 1 0.131578947 ENSG00000115145 chr2:152143855-152143855;C/A missense_variant False STAM2@p.G226V 1 0.146341463 ENSG00000115145 chr2:152143854-152143854;C/A missense_variant False STAM2@p.S306_S312delinsR 1 0.152173913 ENSG00000115145 chr2:152133208-152133225;GAATCTGTTGGATCTATA/- inframe_deletion False STAM2@p.Y395C 1 0.591836735 ENSG00000115145 chr2:152123931-152123931;T/C missense_variant False STAM@p.D10N 1 0.193548387 ENSG00000136738 chr10:17644367-17644367;G/A missense_variant False STAM@p.D117N 1 0.34 ENSG00000136738 chr10:17688078-17688078;G/A missense_variant False STAM@p.I32M 1 0.117647059 ENSG00000136738 chr10:17660519-17660519;C/G missense_variant False STAM@p.M422L 1 0.27388535 ENSG00000136738 chr10:17708830-17708830;A/T missense_variant False STAMBP@p.D234Y 1 0.14516129 ENSG00000124356 chr2:73847711-73847711;G/T missense_variant False STAMBP@p.E317Q 1 0.207317073 ENSG00000124356 chr2:73850457-73850457;G/C missense_variant False STAMBP@p.P230S 1 0.231578947 ENSG00000124356 chr2:73847699-73847699;C/T missense_variant False STAMBP@p.S236F 1 0.150943396 ENSG00000124356 chr2:73847718-73847718;C/T missense_variant False STAMBP@p.V225L 1 0.133333333 ENSG00000124356 chr2:73847684-73847684;G/T missense_variant False STAMBPL1@p.L435M 1 0.159090909 ENSG00000138134 chr10:88923216-88923216;C/A missense_variant False STAMBPL1@p.S9C 1 0.417582418 ENSG00000138134 chr10:88901734-88901734;C/G missense_variant False STAP1@p.K61N 1 0.192468619 ENSG00000035720 chr4:67571146-67571146;G/T missense_variant False STAB1@p.S2511C 1 0.395061728 ENSG00000010327 chr3:52524007-52524007;C/G missense_variant False STAB1@p.S2177L 1 0.090225564 ENSG00000010327 chr3:52522394-52522394;C/T missense_variant False STAB1@p.S1958R 1 0.413793103 ENSG00000010327 chr3:52520971-52520971;C/A missense_variant False ST13@p.M38I 1 0.263157895 ENSG00000100380 chr22:40850877-40850877;C/G missense_variant False ST14@p.S108F 1 0.322222222 ENSG00000149418 chr11:130188611-130188611;C/T missense_variant False ST14@p.R460H 1 0.5 ENSG00000149418 chr11:130197865-130197865;G/A missense_variant False ST14@p.E625K 1 0.175438596 ENSG00000149418 chr11:130200016-130200016;G/A missense_variant False ST13@p.W34L 1 0.658536585 ENSG00000100380 chr22:40856440-40856440;C/A missense_variant False ST13@p.Q265H 1 0.297619048 ENSG00000100380 chr22:40830843-40830843;C/G missense_variant False ST13@p.Q162H 1 0.303448276 ENSG00000100380 chr22:40835652-40835652;C/A missense_variant False ST13@p.L323F 1 0.056603774 ENSG00000100380 chr22:40827110-40827110;G/A missense_variant False SSUH2@p.S243Y 1 0.131782946 ENSG00000125046 chr3:8625621-8625621;G/T missense_variant False ST13@p.E321Q 1 0.282608696 ENSG00000100380 chr22:40827116-40827116;C/G missense_variant False SSX7@p.R88C 1 0.082352941 ENSG00000187754 chrX:52652270-52652270;G/A missense_variant False SSX7@p.Q16E 1 0.651515152 ENSG00000187754 chrX:52653427-52653427;G/C missense_variant False SSX4@p.F25Sfs*16 1 0.24137931 ENSG00000269791 chrX:48384564-48384564;T/- frameshift_variant False SSX2IP@p.L134P 1 0.070175439 ENSG00000117155 chr1:84669706-84669706;A/G missense_variant False SSX1@p.T30K 1 0.826086957 ENSG00000126752 chrX:48257765-48257765;C/A missense_variant False ST14@p.S195L 1 0.181818182 ENSG00000149418 chr11:130189882-130189882;C/T missense_variant False ST14@p.T748M 1 0.136363636 ENSG00000149418 chr11:130208658-130208658;C/T missense_variant False ST14@p.V417I 1 0.181818182 ENSG00000149418 chr11:130196595-130196595;G/A missense_variant False ST18@p.A655V 1 0.111111111 ENSG00000147488 chr8:52149820-52149820;G/A missense_variant False ST18@p.D180N 1 0.35 ENSG00000147488 chr8:52172323-52172323;C/T missense_variant False ST18@p.E1010K 1 0.357541899 ENSG00000147488 chr8:52113314-52113314;C/T missense_variant False ST18@p.E147K 1 0.367231638 ENSG00000147488 chr8:52172422-52172422;C/T missense_variant False ST18@p.E307Q 1 0.055555556 ENSG00000147488 chr8:52171942-52171942;C/G missense_variant False ST18@p.E944K 1 0.376344086 ENSG00000147488 chr8:52118367-52118367;C/T missense_variant False ST18@p.K8E 1 0.365853659 ENSG00000147488 chr8:52214236-52214236;T/C missense_variant False ST18@p.N139Kfs*9 1 0.214285714 ENSG00000147488 chr8:52172444-52172445;-/T frameshift_variant False ST18@p.P415L 1 0.175675676 ENSG00000147488 chr8:52165186-52165186;G/A missense_variant False ST18@p.Q565K 1 0.134228188 ENSG00000147488 chr8:52159011-52159011;G/T missense_variant False ST18@p.R217G 1 0.490196078 ENSG00000147488 chr8:52172212-52172212;T/C missense_variant False ST18@p.R622G 1 0.166666667 ENSG00000147488 chr8:52149920-52149920;G/C missense_variant False ST18@p.S198Rfs*26 1 0.349206349 ENSG00000147488 chr8:52172267-52172267;A/- frameshift_variant False ST20@p.E47A 1 0.043478261 ENSG00000180953 chr15:79899031-79899031;T/G missense_variant False SSX1@p.E184K 1 0.078947368 ENSG00000126752 chrX:48266370-48266370;G/A missense_variant False SSU72P8@p.S14N 1 0.105263158 None chr7:124476411-124476411;G/A missense_variant False ST3GAL1@p.G199E 1 0.088888889 ENSG00000008513 chr8:133464865-133464865;C/T missense_variant False SSH3@p.S196C 1 0.48 ENSG00000172830 chr11:67307421-67307421;C/G missense_variant False SSRP1@p.M289I 1 0.167701863 ENSG00000149136 chr11:57332388-57332388;C/T missense_variant False SSRP1@p.E514K 1 0.263157895 ENSG00000149136 chr11:57328368-57328368;C/T missense_variant False SSR1@p.E230A 1 0.314285714 ENSG00000124783 chr6:7297933-7297933;T/G missense_variant False SSR1@p.D72N 1 0.491071429 ENSG00000124783 chr6:7303616-7303616;C/T missense_variant False SSPN@p.S169L 1 0.192857143 ENSG00000123096 chr12:26230850-26230850;C/T missense_variant False SSH3@p.T144M 1 0.40625 ENSG00000172830 chr11:67306929-67306929;C/T missense_variant False SSH3@p.R31Q 1 0.451612903 ENSG00000172830 chr11:67304143-67304143;G/A missense_variant False SSU72P8@p.D56Y 1 0.323076923 None chr7:124476536-124476536;G/T missense_variant False SSH3@p.R256Q 1 0.464285714 ENSG00000172830 chr11:67307713-67307713;G/A missense_variant False SSH3@p.N453K 1 0.672727273 ENSG00000172830 chr11:67309918-67309918;C/A missense_variant False SSH3@p.N377K 1 0.223880597 ENSG00000172830 chr11:67309466-67309466;T/G missense_variant False SSH3@p.F398L 1 0.525 ENSG00000172830 chr11:67309529-67309529;C/A missense_variant False SSH3@p.E658K 1 0.180451128 ENSG00000172830 chr11:67311879-67311879;G/A missense_variant False SSH3@p.E437K 1 0.2 ENSG00000172830 chr11:67309868-67309868;G/A missense_variant False SSRP1@p.R211L 1 0.441176471 ENSG00000149136 chr11:57332761-57332761;C/A missense_variant False SSRP1@p.R381C 1 0.125 ENSG00000149136 chr11:57331750-57331750;G/A missense_variant False SSRP1@p.S622Y 1 0.165680473 ENSG00000149136 chr11:57327432-57327432;G/T missense_variant False SSRP1@p.S648L 1 0.311111111 ENSG00000149136 chr11:57326818-57326818;G/A missense_variant False SSRP1@p.T195Rfs*14 1 0.106060606 ENSG00000149136 chr11:57332811-57332811;G/- frameshift_variant False SSTR1@p.A238T 1 0.097560976 ENSG00000139874 chr14:38210101-38210101;G/A missense_variant False SSTR1@p.R361H 1 0.265306122 ENSG00000139874 chr14:38210471-38210471;G/A missense_variant False SSTR1@p.V157M 1 0.22972973 ENSG00000139874 chr14:38209858-38209858;G/A missense_variant False SSTR1@p.Y363H 1 0.650717703 ENSG00000139874 chr14:38210476-38210476;T/C missense_variant False SSTR3@p.R336H 1 0.362416107 ENSG00000278195 chr22:37206797-37206797;C/T missense_variant False SSTR3@p.S171L 1 0.157894737 ENSG00000278195 chr22:37207292-37207292;G/A missense_variant False SSTR4@p.A197D 1 0.587412587 ENSG00000132671 chr20:23036073-23036073;C/A missense_variant False SSTR4@p.F102L 1 0.4 ENSG00000132671 chr20:23035789-23035789;C/G missense_variant False SSTR4@p.R379C 1 0.238636364 ENSG00000132671 chr20:23036618-23036618;C/T missense_variant False SSTR4@p.V103L 1 0.4 ENSG00000132671 chr20:23035790-23035790;G/T missense_variant False SSU72@p.L154F 1 0.265734266 ENSG00000160075 chr1:1543892-1543892;G/A missense_variant False SSU72@p.Y55S 1 0.219512195 ENSG00000160075 chr1:1564833-1564833;T/G missense_variant False ST20@p.V20I 1 0.298507463 ENSG00000180953 chr15:79899113-79899113;C/T missense_variant False ST3GAL2@p.A241T 1 0.545454545 ENSG00000157350 chr16:70383228-70383228;C/T missense_variant False STAB1@p.R2308Q 1 0.177570093 ENSG00000010327 chr3:52523037-52523037;G/A missense_variant False ST7L@p.G6V 1 0.625 ENSG00000007341 chr1:112619097-112619097;C/A missense_variant False ST8SIA2@p.L142P 1 0.5 ENSG00000140557 chr15:92438487-92438487;T/C missense_variant False ST8SIA2@p.I96N 1 0.25974026 ENSG00000140557 chr15:92434372-92434372;T/A missense_variant False ST8SIA2@p.G172R 1 0.24 ENSG00000140557 chr15:92438576-92438576;G/C missense_variant False ST8SIA2@p.D195H 1 0.157142857 ENSG00000140557 chr15:92444670-92444670;G/C missense_variant False ST8SIA1@p.R27Q 1 0.057416268 ENSG00000111728 chr12:22334153-22334153;C/T missense_variant False ST8SIA1@p.K137N 1 0.512727273 ENSG00000111728 chr12:22255360-22255360;T/A missense_variant False ST7L@p.G6R 1 0.625 ENSG00000007341 chr1:112619098-112619098;C/G missense_variant False ST6GALNAC5@p.T220N 1 0.086805556 ENSG00000117069 chr1:77044601-77044601;C/A missense_variant False ST7L@p.E244K 1 0.25 ENSG00000007341 chr1:112584098-112584098;C/T missense_variant False ST7@p.Q584E 1 0.111111111 ENSG00000004866 chr7:117222972-117222972;C/G missense_variant False ST7@p.M53L 1 0.5 ENSG00000004866 chr7:117099767-117099767;A/C missense_variant False ST7@p.L461I 1 0.444444444 ENSG00000004866 chr7:117209913-117209913;C/A missense_variant False ST7@p.L454V 1 0.164685908 ENSG00000004866 chr7:117229785-117229785;C/G missense_variant False ST7@p.L449V 1 0.114754098 ENSG00000004866 chr7:117209877-117209877;C/G missense_variant False ST8SIA2@p.S147L 1 0.197916667 ENSG00000140557 chr15:92438502-92438502;C/T missense_variant False ST8SIA3@p.A163S 1 0.694444444 ENSG00000177511 chr18:57357097-57357097;G/T missense_variant False ST8SIA3@p.L105I 1 0.543478261 ENSG00000177511 chr18:57356923-57356923;C/A missense_variant False ST8SIA4@p.D306H 1 0.184210526 ENSG00000113532 chr5:100812011-100812011;C/G missense_variant False ST8SIA4@p.R332K 1 0.234375 ENSG00000113532 chr5:100811932-100811932;C/T missense_variant False ST8SIA5@p.F20L 1 0.11627907 ENSG00000101638 chr18:46756449-46756449;G/T missense_variant False ST8SIA5@p.S270L 1 0.489361702 ENSG00000101638 chr18:46680364-46680364;G/A missense_variant False ST8SIA6@p.E157K 1 0.255813953 ENSG00000148488 chr10:17331461-17331461;C/T missense_variant False ST8SIA6@p.L232V 1 0.395061728 ENSG00000148488 chr10:17323099-17323099;G/C missense_variant False STAB1@p.E2362K 1 0.378571429 ENSG00000010327 chr3:52523285-52523285;G/A missense_variant False STAB1@p.E362K 1 0.25 ENSG00000010327 chr3:52504089-52504089;G/A missense_variant False STAB1@p.F1826L 1 0.109243697 ENSG00000010327 chr3:52520269-52520269;C/G missense_variant False STAB1@p.M2114V 1 0.181818182 ENSG00000010327 chr3:52522105-52522105;A/G missense_variant False STAB1@p.Q1095H 1 0.260869565 ENSG00000010327 chr3:52513731-52513731;G/C missense_variant False STAB1@p.Q449K 1 0.25 ENSG00000010327 chr3:52504844-52504844;C/A missense_variant False STAB1@p.R1145L 1 0.066666667 ENSG00000010327 chr3:52513968-52513968;G/T missense_variant False STAB1@p.R2087C 1 0.225806452 ENSG00000010327 chr3:52521939-52521939;C/T missense_variant False ST6GALNAC6@p.N209S 1 0.174757282 ENSG00000257524 chr9:127890715-127890715;T/C missense_variant False ST6GALNAC5@p.R247S 1 0.325581395 ENSG00000117069 chr1:77050327-77050327;G/C missense_variant False ST3GAL2@p.R110G 1 0.5 ENSG00000157350 chr16:70398203-70398203;T/C missense_variant False ST3GAL5@p.L47P 1 0.208333333 ENSG00000115525 chr2:85863428-85863428;A/G missense_variant False ST6GAL1@p.Q61L 1 0.145833333 ENSG00000073849 chr3:187042885-187042885;A/T missense_variant False ST6GAL1@p.G79V 1 0.236842105 ENSG00000073849 chr3:187042939-187042939;G/T missense_variant False ST3GAL6@p.S299F 1 0.319148936 ENSG00000064225 chr3:98791980-98791980;C/T missense_variant False ST3GAL6@p.L54V 1 0.156862745 ENSG00000064225 chr3:98770949-98770949;C/G missense_variant False ST3GAL6@p.L186F 1 0.16 ENSG00000064225 chr3:98788160-98788160;C/T missense_variant False ST3GAL5@p.P45L 1 0.216216216 ENSG00000115525 chr2:85863434-85863434;G/A missense_variant False ST3GAL5@p.F250Y 1 0.188405797 ENSG00000115525 chr2:85844535-85844535;A/T missense_variant False ST6GALNAC5@p.R109G 1 0.186813187 ENSG00000117069 chr1:77044267-77044267;C/G missense_variant False ST3GAL5@p.E276Q 1 0.066666667 ENSG00000115525 chr2:85844458-85844458;C/G missense_variant False ST3GAL3@p.S97L 1 0.152439024 ENSG00000126091 chr1:43838254-43838254;C/T missense_variant False ST3GAL3@p.R74W 1 0.035369775 ENSG00000126091 chr1:43814899-43814899;C/T missense_variant False ST3GAL3@p.E98K 1 0.193548387 ENSG00000126091 chr1:43838256-43838256;G/A missense_variant False ST3GAL3@p.E233Q 1 0.071428571 ENSG00000126091 chr1:43899635-43899635;G/C missense_variant False ST3GAL2@p.S21F 1 0.666666667 ENSG00000157350 chr16:70398469-70398469;G/A missense_variant False ST6GAL1@p.S80G 1 0.220588235 ENSG00000073849 chr3:187042941-187042941;A/G missense_variant False ST6GAL1@p.V256L 1 0.23 ENSG00000073849 chr3:187072909-187072909;G/T missense_variant False ST6GAL2@p.P219_K223del 1 0.692307692 ENSG00000144057 chr2:106843309-106843323;CTTCTGCAGGCGCGG/- inframe_deletion False ST6GAL2@p.P81A 1 0.277777778 ENSG00000144057 chr2:106843737-106843737;G/C missense_variant False ST6GAL2@p.Q430K 1 0.23655914 ENSG00000144057 chr2:106830096-106830096;G/T missense_variant False ST6GALNAC1@p.A70Efs*157 1 0.31443299 ENSG00000070526 chr17:76629633-76629634;TG/- frameshift_variant False ST6GALNAC1@p.F304Pfs*10 1 0.258064516 ENSG00000070526 chr17:76627505-76627506;AG/- frameshift_variant False ST6GALNAC1@p.S12R 1 0.342857143 ENSG00000070526 chr17:76643603-76643603;G/C missense_variant False ST6GALNAC1@p.S506F 1 0.3 ENSG00000070526 chr17:76625907-76625907;G/A missense_variant False ST6GALNAC3@p.D264N 1 0.294117647 ENSG00000184005 chr1:76628678-76628678;G/A missense_variant False ST6GALNAC3@p.D78N 1 0.483050847 ENSG00000184005 chr1:76412026-76412026;G/A missense_variant False ST6GALNAC3@p.E246K 1 0.090909091 ENSG00000184005 chr1:76628624-76628624;G/A missense_variant False ST6GALNAC3@p.G276Vfs*20 1 0.1125 ENSG00000184005 chr1:76628711-76628711;G/- frameshift_variant False ST6GALNAC3@p.R278K 1 0.314814815 ENSG00000184005 chr1:76628721-76628721;G/A missense_variant False ST6GALNAC4@p.E253D 1 0.474137931 ENSG00000136840 chr9:127908542-127908542;C/G missense_variant False ST6GALNAC4@p.K142T 1 0.178947368 ENSG00000136840 chr9:127912454-127912454;T/G missense_variant False ST6GALNAC5@p.K208N 1 0.170212766 ENSG00000117069 chr1:77044566-77044566;G/C missense_variant False SVEP1@p.S3330G 1 0.271428571 ENSG00000165124 chr9:110387357-110387357;T/C missense_variant False SVEP1@p.Y2689C 1 0.491071429 ENSG00000165124 chr9:110407534-110407534;T/C missense_variant False TBX22@p.T305I 1 0.379310345 ENSG00000122145 chrX:80028041-80028041;C/T missense_variant False TARBP1@p.T905I 1 0.21 ENSG00000059588 chr1:234429573-234429573;G/A missense_variant False TARS1@p.D582Y 1 0.233576642 ENSG00000113407 chr5:33462112-33462112;G/T missense_variant False TARDBP@p.S407C 1 0.169565217 ENSG00000120948 chr1:11022629-11022629;C/G missense_variant False TARDBP@p.L111R 1 0.076923077 ENSG00000120948 chr1:11016937-11016937;T/G missense_variant False TARDBP@p.D138A 1 0.041666667 ENSG00000120948 chr1:11018743-11018743;A/C missense_variant False TARBP2@p.S286C 1 0.223529412 ENSG00000139546 chr12:53505764-53505764;C/G missense_variant False TARBP2@p.S112F 1 0.087837838 ENSG00000139546 chr12:53503721-53503721;C/T missense_variant False TARBP1@p.S553L 1 0.224137931 ENSG00000059588 chr1:234457731-234457731;G/A missense_variant False TARS1@p.E17K 1 0.388535032 ENSG00000113407 chr5:33441135-33441135;G/A missense_variant False TARBP1@p.Q1398E 1 0.311111111 ENSG00000059588 chr1:234398433-234398433;G/C missense_variant False TARBP1@p.Q1259E 1 0.12 ENSG00000059588 chr1:234410462-234410462;G/C missense_variant False TARBP1@p.L460I 1 0.444444444 ENSG00000059588 chr1:234463858-234463858;G/T missense_variant False TARBP1@p.G528R 1 0.298507463 ENSG00000059588 chr1:234459280-234459280;C/T missense_variant False TARBP1@p.F1344L 1 0.282051282 ENSG00000059588 chr1:234401222-234401222;A/G missense_variant False TARBP1@p.D1128Y 1 0.15625 ENSG00000059588 chr1:234425735-234425735;C/A missense_variant False TARS1@p.D631N 1 0.384615385 ENSG00000113407 chr5:33463808-33463808;G/A missense_variant False TARS1@p.E217Q 1 0.179487179 ENSG00000113407 chr5:33455660-33455660;G/C missense_variant False TAS2R7@p.E262Q 1 0.126582278 ENSG00000121377 chr12:10801787-10801787;C/G missense_variant False TARS2@p.F131L 1 0.14379085 ENSG00000143374 chr1:150490606-150490606;C/G missense_variant False TARS3@p.E194Q 1 0.151898734 ENSG00000185418 chr15:101714950-101714950;C/G missense_variant False TARS3@p.E194K 1 0.143617021 ENSG00000185418 chr15:101714950-101714950;C/T missense_variant False TARS2@p.S115C 1 0.180451128 ENSG00000143374 chr1:150489044-150489044;C/G missense_variant False TARS2@p.R206C 1 0.56097561 ENSG00000143374 chr1:150491497-150491497;C/T missense_variant False TARS2@p.L38V 1 0.194444444 ENSG00000143374 chr1:150487903-150487903;C/G missense_variant False TARS2@p.F165L 1 0.184210526 ENSG00000143374 chr1:150490708-150490708;C/A missense_variant False TARS2@p.E705D 1 0.35483871 ENSG00000143374 chr1:150507022-150507022;G/T missense_variant False TARS1@p.E402D 1 0.211538462 ENSG00000113407 chr5:33459817-33459817;G/C missense_variant False TARS2@p.E40K 1 0.114361702 ENSG00000143374 chr1:150487909-150487909;G/A missense_variant False TARS2@p.E177Q 1 0.112462006 ENSG00000143374 chr1:150491410-150491410;G/C missense_variant False TARS2@p.D646H 1 0.170068027 ENSG00000143374 chr1:150505633-150505633;G/C missense_variant False TARS1@p.Q514E 1 0.062176166 ENSG00000113407 chr5:33461284-33461284;C/G missense_variant False TARS1@p.Q27H 1 0.25 ENSG00000113407 chr5:33445347-33445347;A/C missense_variant False TARS1@p.F494L 1 0.395348837 ENSG00000113407 chr5:33461226-33461226;T/G missense_variant False TARBP1@p.C302Y 1 0.25 ENSG00000059588 chr1:234478199-234478199;C/T missense_variant False TAPT1@p.E555Q 1 0.227722772 ENSG00000169762 chr4:16163349-16163349;C/G missense_variant False TAPT1@p.D531N 1 0.254385965 ENSG00000169762 chr4:16163421-16163421;C/T missense_variant False TAOK2@p.R302W 1 0.153846154 ENSG00000149930 chr16:29982806-29982806;C/T missense_variant False TAOK3@p.E789D 1 0.101851852 ENSG00000135090 chr12:118152395-118152395;C/G missense_variant False TAOK3@p.E433K 1 0.068493151 ENSG00000135090 chr12:118189839-118189839;C/T missense_variant False TAOK3@p.D411N 1 0.315384615 ENSG00000135090 chr12:118189905-118189905;C/T missense_variant False TAOK3@p.A229V 1 0.328125 ENSG00000135090 chr12:118214068-118214068;G/A missense_variant False TAOK2@p.R815K 1 0.12244898 ENSG00000149930 chr16:29986716-29986716;G/A missense_variant False TAOK2@p.R729Q 1 0.166666667 ENSG00000149930 chr16:29986458-29986458;G/A missense_variant False TAOK2@p.R283W 1 0.279069767 ENSG00000149930 chr16:29982749-29982749;C/T missense_variant False TAPBPL@p.E444K 1 0.289473684 ENSG00000139192 chr12:6462072-6462072;G/A missense_variant False TAOK2@p.G1067D 1 0.162790698 ENSG00000149930 chr16:29987472-29987472;G/A missense_variant False TAOK2@p.E907del 1 0.24 ENSG00000149930 chr16:29986979-29986981;GAA/- inframe_deletion False TAOK2@p.E727Q 1 0.169014085 ENSG00000149930 chr16:29986451-29986451;G/C missense_variant False TAOK2@p.E540K 1 0.454545455 ENSG00000149930 chr16:29985408-29985408;G/A missense_variant False TAOK2@p.E392K 1 0.333333333 ENSG00000149930 chr16:29983246-29983246;G/A missense_variant False TAOK2@p.E127Q 1 0.051282051 ENSG00000149930 chr16:29979000-29979000;G/C missense_variant False TAOK3@p.E843Q 1 0.108695652 ENSG00000135090 chr12:118152235-118152235;C/G missense_variant False TAOK3@p.I438V 1 0.181818182 ENSG00000135090 chr12:118189824-118189824;T/C missense_variant False TAOK3@p.M567I 1 0.256410256 ENSG00000135090 chr12:118172655-118172655;C/T missense_variant False TAOK3@p.M806V 1 0.163934426 ENSG00000135090 chr12:118152346-118152346;T/C missense_variant False TAOK3@p.N611H 1 0.437837838 ENSG00000135090 chr12:118172525-118172525;T/G missense_variant False TAOK3@p.Q844H 1 0.09375 ENSG00000135090 chr12:118152230-118152230;C/G missense_variant False TAOK3@p.R432K 1 0.068493151 ENSG00000135090 chr12:118189841-118189841;C/T missense_variant False TAOK3@p.R676L 1 0.173913043 ENSG00000135090 chr12:118161900-118161900;C/A missense_variant False TAOK3@p.T656N 1 0.206521739 ENSG00000135090 chr12:118161960-118161960;G/T missense_variant False TAP1@p.L401M 1 0.333333333 ENSG00000168394 chr6:32850973-32850973;G/T missense_variant False TAP1@p.P76L 1 0.166666667 ENSG00000168394 chr6:32853590-32853590;G/A missense_variant False TAP1@p.R58P 1 0.923076923 ENSG00000168394 chr6:32853644-32853644;C/G missense_variant False TAP2@p.E320D 1 0.169811321 ENSG00000204267 chr6:32832810-32832810;C/A missense_variant False TAPBP@p.A106S 1 0.296296296 ENSG00000231925 chr6:33313370-33313370;C/A missense_variant False TAPBP@p.C440Y 1 0.134453782 ENSG00000231925 chr6:33303971-33303971;C/T missense_variant False TAPBP@p.F320L 1 0.3125 ENSG00000231925 chr6:33304547-33304547;G/C missense_variant False TAPBP@p.L138R 1 0.352941176 ENSG00000231925 chr6:33313273-33313273;A/C missense_variant False TARS3@p.E296Q 1 0.353658537 ENSG00000185418 chr15:101708837-101708837;C/G missense_variant False TARS3@p.E607K 1 0.142857143 ENSG00000185418 chr15:101671718-101671718;C/T missense_variant False TARS3@p.L602F 1 0.215909091 ENSG00000185418 chr15:101671731-101671731;C/G missense_variant False TAS2R39@p.L157F 1 0.325842697 ENSG00000236398 chr7:143183889-143183889;G/C missense_variant False TAS2R40@p.F80L 1 0.24137931 ENSG00000221937 chr7:143222318-143222318;C/A missense_variant False TAS2R40@p.F258L 1 0.453416149 ENSG00000221937 chr7:143222852-143222852;C/A missense_variant False TAS2R3@p.T64P 1 0.427272727 ENSG00000127362 chr7:141764348-141764348;A/C missense_variant False TAS2R3@p.E227K 1 0.25 ENSG00000127362 chr7:141764837-141764837;G/A missense_variant False TAS2R3@p.A278T 1 0.105263158 ENSG00000127362 chr7:141764990-141764990;G/A missense_variant False TAS2R39@p.R320K 1 0.272727273 ENSG00000236398 chr7:143184377-143184377;G/A missense_variant False TAS2R39@p.I154T 1 0.376237624 ENSG00000236398 chr7:143183879-143183879;T/C missense_variant False TAS2R30@p.K165N 1 0.06557377 ENSG00000256188 chr12:11133750-11133750;C/A missense_variant False TAS2R38@p.M97I 1 0.172839506 ENSG00000257138 chr7:141973399-141973399;C/T missense_variant False TAS2R31@p.S216C 1 0.06744868 ENSG00000256436 chr12:11030689-11030689;G/C missense_variant False TAS2R31@p.R55K 1 0.075268817 ENSG00000256436 chr12:11031172-11031172;C/T missense_variant False TAS2R31@p.G135W 1 0.396226415 ENSG00000256436 chr12:11030933-11030933;C/A missense_variant False TAS2R30@p.Y158H 1 0.212290503 ENSG00000256188 chr12:11133773-11133773;A/G missense_variant False TAS2R30@p.L243V 1 0.445454545 ENSG00000256188 chr12:11133518-11133518;G/C missense_variant False TAS2R40@p.I138M 1 0.236842105 ENSG00000221937 chr7:143222492-143222492;C/G missense_variant False TAS2R40@p.M74I 1 0.056 ENSG00000221937 chr7:143222300-143222300;G/T missense_variant False TAS2R41@p.L290V 1 0.3 ENSG00000221855 chr7:143478740-143478740;C/G missense_variant False TAS2R41@p.S238Y 1 0.105882353 ENSG00000221855 chr7:143478585-143478585;C/A missense_variant False TAS2R42@p.K110N 1 0.214285714 ENSG00000186136 chr12:11186608-11186608;C/G missense_variant False TAS2R43@p.S32F 1 0.164383562 ENSG00000255374 chr12:11092135-11092135;G/A missense_variant False TAS2R46@p.D218H 1 0.163934426 ENSG00000226761 chr12:11061643-11061643;C/G missense_variant False TAS2R46@p.L12I 1 0.32 ENSG00000226761 chr12:11062261-11062261;G/T missense_variant False TAS2R46@p.Y299F 1 0.294117647 ENSG00000226761 chr12:11061399-11061399;T/A missense_variant False TAS2R4@p.L183F 1 0.209726444 ENSG00000127364 chr7:141779037-141779037;G/C missense_variant False TAS2R50@p.L119Ifs*2 1 0.282051282 ENSG00000212126 chr12:10986504-10986507;AAGA/- frameshift_variant False TAS2R50@p.L291V 1 0.25 ENSG00000212126 chr12:10985990-10985990;G/C missense_variant False TAS2R50@p.V249I 1 0.419047619 ENSG00000212126 chr12:10986116-10986116;C/T missense_variant False TAS2R5@p.K289N 1 0.370629371 ENSG00000127366 chr7:141791228-141791228;G/C missense_variant False TAS2R60@p.D183N 1 0.458823529 ENSG00000185899 chr7:143443999-143443999;G/A missense_variant False TAS2R60@p.M213I 1 0.323308271 ENSG00000185899 chr7:143444091-143444091;G/A missense_variant False TAS2R60@p.S138C 1 0.225146199 ENSG00000185899 chr7:143443865-143443865;C/G missense_variant False TAS2R30@p.L137F 1 0.298850575 ENSG00000256188 chr12:11133834-11133834;C/G missense_variant False TAS2R30@p.I41M 1 0.333333333 ENSG00000256188 chr12:11134122-11134122;G/C missense_variant False TARS3@p.S465L 1 0.103092784 ENSG00000185418 chr15:101685989-101685989;G/A missense_variant False TAS1R3@p.A232T 1 0.384615385 ENSG00000169962 chr1:1332225-1332225;G/A missense_variant False TAS1R3@p.M76I 1 0.882352941 ENSG00000169962 chr1:1331674-1331674;G/A missense_variant False TAS1R3@p.F350L 1 0.151515152 ENSG00000169962 chr1:1332581-1332581;C/G missense_variant False TAS1R3@p.E717K 1 0.266666667 ENSG00000169962 chr1:1334054-1334054;G/A missense_variant False TAS1R3@p.E333Q 1 0.219512195 ENSG00000169962 chr1:1332528-1332528;G/C missense_variant False TAS1R3@p.D470N 1 0.2 ENSG00000169962 chr1:1333053-1333053;G/A missense_variant False TAS1R3@p.D124H 1 0.252631579 ENSG00000169962 chr1:1331816-1331816;G/C missense_variant False TAS1R2@p.V694G 1 0.306122449 ENSG00000179002 chr1:18840038-18840038;A/C missense_variant False TAS2R20@p.S43L 1 0.306818182 ENSG00000255837 chr12:10997748-10997748;G/A missense_variant False TAS1R2@p.V465I 1 0.175 ENSG00000179002 chr1:18849415-18849415;C/T missense_variant False TAS1R2@p.I645M 1 0.417582418 ENSG00000179002 chr1:18840184-18840184;G/C missense_variant False TAS1R2@p.D142N 1 0.411111111 ENSG00000179002 chr1:18857390-18857390;C/T missense_variant False TAS1R2@p.A398T 1 0.3 ENSG00000179002 chr1:18854278-18854278;C/T missense_variant False TAS1R1@p.F776L 1 0.223140496 ENSG00000173662 chr1:6579386-6579386;C/G missense_variant False TAS1R1@p.F669L 1 0.320895522 ENSG00000173662 chr1:6579065-6579065;C/G missense_variant False TAS1R3@p.Q379H 1 0.230769231 ENSG00000169962 chr1:1332668-1332668;G/T missense_variant False TAS1R3@p.R557H 1 0.272727273 ENSG00000169962 chr1:1333575-1333575;G/A missense_variant False TAS2R13@p.E173K 1 0.380952381 ENSG00000212128 chr12:10908782-10908782;C/T missense_variant False TAS2R13@p.V12L 1 0.325581395 ENSG00000212128 chr12:10909265-10909265;C/G missense_variant False TAS2R14@p.F302L 1 0.552631579 ENSG00000212127 chr12:10938302-10938302;G/C missense_variant False TAS2R14@p.K127_L131del 1 0.08974359 ENSG00000212127 chr12:10938815-10938829;CAAAACCACCTTTTT/- inframe_deletion False TAS2R14@p.S42F 1 0.257142857 ENSG00000212127 chr12:10939083-10939083;G/A missense_variant False TAS2R16@p.D253H 1 0.177570093 ENSG00000128519 chr7:122994878-122994878;C/G missense_variant False TAS2R16@p.F9L 1 0.290322581 ENSG00000128519 chr7:122995608-122995608;G/C missense_variant False TAS2R16@p.G213S 1 0.15 ENSG00000128519 chr7:122994998-122994998;C/T missense_variant False TAS2R16@p.M47I 1 0.096153846 ENSG00000128519 chr7:122995494-122995494;C/T missense_variant False TAS2R1@p.A226T 1 0.619047619 ENSG00000169777 chr5:9629357-9629357;C/T missense_variant False TAS2R1@p.M242I 1 0.171875 ENSG00000169777 chr5:9629307-9629307;C/A missense_variant False TAS2R20@p.K126N 1 0.195876289 ENSG00000255837 chr12:10997498-10997498;C/G missense_variant False TAS2R20@p.L190V 1 0.404040404 ENSG00000255837 chr12:10997308-10997308;G/C missense_variant False TAS2R20@p.L196V 1 0.272058824 ENSG00000255837 chr12:10997290-10997290;G/C missense_variant False TAS2R20@p.N86I 1 0.532786885 ENSG00000255837 chr12:10997619-10997619;T/A missense_variant False TAOK1@p.V289M 1 0.282608696 ENSG00000160551 chr17:29495593-29495593;G/A missense_variant False TAOK1@p.L840F 1 0.161290323 ENSG00000160551 chr17:29534274-29534274;C/T missense_variant False TAOK1@p.L604V 1 0.258503401 ENSG00000160551 chr17:29517558-29517558;C/G missense_variant False TAF6@p.D443N 1 0.087378641 ENSG00000106290 chr7:100108498-100108498;C/T missense_variant False TAF6L@p.K371N 1 0.454545455 ENSG00000162227 chr11:62786540-62786540;G/C missense_variant False TAF6L@p.E429K 1 0.346153846 ENSG00000162227 chr11:62786712-62786712;G/A missense_variant False TAF6@p.Q424H 1 0.108695652 ENSG00000106290 chr7:100109960-100109960;C/G missense_variant False TAF6@p.P534S 1 0.446428571 ENSG00000106290 chr7:100107982-100107982;G/A missense_variant False TAF6@p.E49Q 1 0.196261682 ENSG00000106290 chr7:100114065-100114065;C/G missense_variant False TAF6@p.E236K 1 0.363636364 ENSG00000106290 chr7:100112122-100112122;C/T missense_variant False TAF5L@p.E117G 1 0.0625 ENSG00000135801 chr1:229602817-229602817;T/C missense_variant False TAF4@p.V898L 1 0.105263158 ENSG00000130699 chr20:62000219-62000219;C/A missense_variant False TAF5L@p.D389H 1 0.720930233 ENSG00000135801 chr1:229594902-229594902;C/G missense_variant False TAF5@p.T493A 1 0.342592593 ENSG00000148835 chr10:103381784-103381784;A/G missense_variant False TAF5@p.G375Wfs*9 1 0.21875 ENSG00000148835 chr10:103379610-103379611;-/T frameshift_variant False TAF4B@p.T176Kfs*57 1 0.103896104 ENSG00000141384 chr18:26267552-26267562;ACACCTGTTAA/- frameshift_variant False TAF4B@p.S275N 1 0.243902439 ENSG00000141384 chr18:26274995-26274995;G/A missense_variant False TAF4B@p.L222Q 1 0.130081301 ENSG00000141384 chr18:26274730-26274730;T/A missense_variant False TAF6L@p.L158del 1 0.114942529 ENSG00000162227 chr11:62778901-62778903;CTT/- inframe_deletion False TAF6L@p.M176I 1 0.3 ENSG00000162227 chr11:62778960-62778960;G/A missense_variant False TAF6L@p.S434L 1 0.361445783 ENSG00000162227 chr11:62786728-62786728;C/T missense_variant False TAF7@p.F223L 1 0.467391304 ENSG00000178913 chr5:141319376-141319376;G/C missense_variant False TAF7L@p.D186N 1 0.165217391 ENSG00000102387 chrX:101282435-101282435;C/T missense_variant False TAF7L@p.D342H 1 0.296296296 ENSG00000102387 chrX:101276454-101276454;C/G missense_variant False TAF7L@p.E97K 1 0.105263158 ENSG00000102387 chrX:101287513-101287513;C/T missense_variant False TAF7L@p.K310R 1 0.543103448 ENSG00000102387 chrX:101277626-101277626;T/C missense_variant False TAF7L@p.M306L 1 0.614754098 ENSG00000102387 chrX:101277639-101277639;T/A missense_variant False TAF7L@p.S271L 1 0.978723404 ENSG00000102387 chrX:101278072-101278072;G/A missense_variant False TAF8@p.E47Q 1 0.226415094 ENSG00000137413 chr6:42051450-42051450;G/C missense_variant False TAF8@p.T197R 1 0.140350877 ENSG00000137413 chr6:42066412-42066412;C/G missense_variant False TAF9@p.P160A 1 0.304347826 ENSG00000273841 chr5:69365260-69365260;G/C missense_variant False TAF9@p.R72Q 1 0.089820359 ENSG00000273841 chr5:69365523-69365523;C/T missense_variant False TAF9@p.S181C 1 0.393939394 ENSG00000273841 chr5:69365196-69365196;G/C missense_variant False TAF9@p.T228I 1 0.235294118 ENSG00000273841 chr5:69365055-69365055;G/A missense_variant False TAF9B@p.D53N 1 0.136363636 ENSG00000187325 chrX:78138075-78138075;C/T missense_variant False TAF4B@p.A478S 1 0.474576271 ENSG00000141384 chr18:26286341-26286341;G/T missense_variant False TAF4@p.S857F 1 0.425925926 ENSG00000130699 chr20:62000638-62000638;G/A missense_variant False TAFA2@p.R113Q 1 0.106382979 ENSG00000198673 chr12:61753668-61753668;C/T missense_variant False TAF1L@p.R1584W 1 0.323943662 ENSG00000122728 chr9:32630830-32630830;G/A missense_variant False TAF2@p.A1003S 1 0.133027523 ENSG00000064313 chr8:119746806-119746806;C/A missense_variant False TAF2@p.A1003G 1 0.277777778 ENSG00000064313 chr8:119746805-119746805;G/C missense_variant False TAF1L@p.R840Q 1 0.103448276 ENSG00000122728 chr9:32633061-32633061;C/T missense_variant False TAF1L@p.R685C 1 0.288888889 ENSG00000122728 chr9:32633527-32633527;G/A missense_variant False TAF1L@p.R361C 1 0.419753086 ENSG00000122728 chr9:32634499-32634499;G/A missense_variant False TAF1L@p.R1806T 1 0.224137931 ENSG00000122728 chr9:32630163-32630163;C/G missense_variant False TAF1L@p.R10T 1 0.177419355 ENSG00000122728 chr9:32635551-32635551;C/G missense_variant False TAF4@p.S806F 1 0.049382716 ENSG00000130699 chr20:62003229-62003229;G/A missense_variant False TAF1L@p.Q1078E 1 0.115942029 ENSG00000122728 chr9:32632348-32632348;G/C missense_variant False TAF1L@p.P755R 1 0.406698565 ENSG00000122728 chr9:32633316-32633316;G/C missense_variant False TAF1L@p.K349E 1 0.301282051 ENSG00000122728 chr9:32634535-32634535;T/C missense_variant False TAF1L@p.K269E 1 0.263473054 ENSG00000122728 chr9:32634775-32634775;T/C missense_variant False TAF1L@p.I440M 1 0.596774194 ENSG00000122728 chr9:32634260-32634260;G/C missense_variant False TAF1L@p.G4S 1 0.64516129 ENSG00000122728 chr9:32635570-32635570;C/T missense_variant False TAF2@p.D228N 1 0.317073171 ENSG00000064313 chr8:119801904-119801904;C/T missense_variant False TAF2@p.E390D 1 0.151515152 ENSG00000064313 chr8:119795553-119795553;C/A missense_variant False TAF2@p.L830F 1 0.416666667 ENSG00000064313 chr8:119762485-119762485;G/A missense_variant False TAF2@p.M913I 1 0.098039216 ENSG00000064313 chr8:119758102-119758102;C/T missense_variant False TAF2@p.R983T 1 0.459119497 ENSG00000064313 chr8:119746865-119746865;C/G missense_variant False TAF3@p.D622H 1 0.457627119 ENSG00000165632 chr10:7965374-7965374;G/C missense_variant False TAF3@p.E715D 1 0.45 ENSG00000165632 chr10:7965655-7965655;G/C missense_variant False TAF3@p.E88Q 1 0.106918239 ENSG00000165632 chr10:7824413-7824413;G/C missense_variant False TAF3@p.G412A 1 0.31875 ENSG00000165632 chr10:7964745-7964745;G/C missense_variant False TAF3@p.K646E 1 0.219298246 ENSG00000165632 chr10:7965446-7965446;A/G missense_variant False TAF3@p.L10F 1 0.185185185 ENSG00000165632 chr10:7818739-7818739;G/C missense_variant False TAF3@p.P500T 1 0.166666667 ENSG00000165632 chr10:7965008-7965008;C/A missense_variant False TAF3@p.R194Q 1 0.461538462 ENSG00000165632 chr10:7964091-7964091;G/A missense_variant False TAF3@p.R858G 1 0.316666667 ENSG00000165632 chr10:8013734-8013734;C/G missense_variant False TAF4@p.K924N 1 0.448275862 ENSG00000130699 chr20:62000139-62000139;C/A missense_variant False TAF4@p.R574C 1 0.270833333 ENSG00000130699 chr20:62010087-62010087;G/A missense_variant False TAF4@p.S647F 1 0.636363636 ENSG00000130699 chr20:62007581-62007581;G/A missense_variant False TAF9B@p.H242_D245del 1 0.59375 ENSG00000187325 chrX:78131631-78131642;ATCATCTTCATG/- inframe_deletion False TAFA4@p.C53S 1 0.116666667 ENSG00000163377 chr3:68752992-68752992;A/T missense_variant False TAOK1@p.K166E 1 0.4 ENSG00000160551 chr17:29480414-29480414;A/G missense_variant False TANC2@p.R177T 1 0.226190476 ENSG00000170921 chr17:63200940-63200940;G/C missense_variant False TANGO2@p.A246V 1 0.40625 ENSG00000183597 chr22:20064568-20064568;C/T missense_variant False TANC2@p.V1938D 1 0.144444444 ENSG00000170921 chr17:63421795-63421795;T/A missense_variant False TANC2@p.S700F 1 0.25 ENSG00000170921 chr17:63355129-63355129;C/T missense_variant False TANC2@p.S674C 1 0.47826087 ENSG00000170921 chr17:63355051-63355051;C/G missense_variant False TANC2@p.S50C 1 0.5 ENSG00000170921 chr17:63099184-63099184;C/G missense_variant False TANC2@p.R481C 1 0.343283582 ENSG00000170921 chr17:63340188-63340188;C/T missense_variant False TANC2@p.Q1510_F1516delinsL 1 0.118644068 ENSG00000170921 chr17:63420511-63420528;AGGGAGGATCTTACCGTT/- inframe_deletion False TANC2@p.E1817K 1 0.170731707 ENSG00000170921 chr17:63421431-63421431;G/A missense_variant False TANC2@p.M693I 1 0.238095238 ENSG00000170921 chr17:63355109-63355109;G/T missense_variant False TANC2@p.L493V 1 0.317829457 ENSG00000170921 chr17:63340224-63340224;C/G missense_variant False TANC2@p.I1979M 1 0.405797101 ENSG00000170921 chr17:63421919-63421919;C/G missense_variant False TANC2@p.H1749R 1 0.309090909 ENSG00000170921 chr17:63421228-63421228;A/G missense_variant False TANC2@p.G165E 1 0.619047619 ENSG00000170921 chr17:63200904-63200904;G/A missense_variant False TANC2@p.E916K 1 0.305555556 ENSG00000170921 chr17:63389461-63389461;G/A missense_variant False TANGO6@p.E616K 1 0.166666667 ENSG00000103047 chr16:68909256-68909256;G/A missense_variant False TANGO6@p.E802K 1 0.422360248 ENSG00000103047 chr16:68927844-68927844;G/A missense_variant False TANGO6@p.M293I 1 0.0859375 ENSG00000103047 chr16:68867105-68867105;G/A missense_variant False TANGO6@p.Q818H 1 0.384615385 ENSG00000103047 chr16:68927894-68927894;A/T missense_variant False TANGO6@p.Q867H 1 0.384615385 ENSG00000103047 chr16:68928041-68928041;G/C missense_variant False TANGO6@p.R4Q 1 0.272727273 ENSG00000103047 chr16:68843628-68843628;G/A missense_variant False TANK@p.D349N 1 0.459016393 ENSG00000136560 chr2:161231495-161231495;G/A missense_variant False TANK@p.E397K 1 0.231884058 ENSG00000136560 chr2:161235429-161235429;G/A missense_variant False TANK@p.S357Y 1 0.454545455 ENSG00000136560 chr2:161231520-161231520;C/A missense_variant False TAOK1@p.D203H 1 0.136842105 ENSG00000160551 chr17:29482240-29482240;G/C missense_variant False TAOK1@p.D418N 1 0.241935484 ENSG00000160551 chr17:29502637-29502637;G/A missense_variant False TAOK1@p.E331K 1 0.564102564 ENSG00000160551 chr17:29495719-29495719;G/A missense_variant False TAOK1@p.E409Q 1 0.25 ENSG00000160551 chr17:29502610-29502610;G/C missense_variant False TAOK1@p.E808K 1 0.588785047 ENSG00000160551 chr17:29534178-29534178;G/A missense_variant False TAOK1@p.G212E 1 0.320610687 ENSG00000160551 chr17:29482268-29482268;G/A missense_variant False TAOK1@p.H236Y 1 0.102040816 ENSG00000160551 chr17:29489714-29489714;C/T missense_variant False TAOK1@p.I279V 1 0.324324324 ENSG00000160551 chr17:29495563-29495563;A/G missense_variant False TANC2@p.E721Q 1 0.111111111 ENSG00000170921 chr17:63355191-63355191;G/C missense_variant False TANC2@p.E1421K 1 0.285714286 ENSG00000170921 chr17:63420243-63420243;G/A missense_variant False TAFA4@p.I48M 1 0.682926829 ENSG00000163377 chr3:68753005-68753005;G/C missense_variant False TAGLN2@p.E101K 1 0.514084507 ENSG00000158710 chr1:159919715-159919715;C/T missense_variant False TAL2@p.E94Q 1 0.172413793 ENSG00000186051 chr9:105662776-105662776;G/C missense_variant False TAGLN@p.I35T 1 0.612903226 ENSG00000149591 chr11:117203117-117203117;T/C missense_variant False TAGLN3@p.R12Q 1 0.179487179 ENSG00000144834 chr3:111999457-111999457;G/A missense_variant False TAGLN3@p.M85V 1 0.154411765 ENSG00000144834 chr3:112000844-112000844;A/G missense_variant False TAGLN3@p.M122I 1 0.129032258 ENSG00000144834 chr3:112011773-112011773;G/A missense_variant False TAGLN3@p.A86V 1 0.202531646 ENSG00000144834 chr3:112000848-112000848;C/T missense_variant False TAGAP@p.T243I 1 0.882352941 ENSG00000164691 chr6:159039169-159039169;G/A missense_variant False TANC2@p.E1180K 1 0.301587302 ENSG00000170921 chr17:63411681-63411681;G/A missense_variant False TAGAP@p.R666Q 1 0.392156863 ENSG00000164691 chr6:159036026-159036026;C/T missense_variant False TAGAP@p.E560Q 1 0.137254902 ENSG00000164691 chr6:159036345-159036345;C/G missense_variant False TAGAP@p.E560K 1 0.168421053 ENSG00000164691 chr6:159036345-159036345;C/T missense_variant False TAGAP@p.D43N 1 0.116591928 ENSG00000164691 chr6:159043610-159043610;C/T missense_variant False TAFA5@p.T49S 1 0.161290323 ENSG00000219438 chr22:48646630-48646630;C/G missense_variant False TAFA4@p.Q90E 1 0.30952381 ENSG00000163377 chr3:68752881-68752881;G/C missense_variant False TALDO1@p.S145L 1 0.492063492 ENSG00000177156 chr11:760226-760226;C/T missense_variant False TALDO1@p.S275L 1 0.296296296 ENSG00000177156 chr11:763933-763933;C/T missense_variant False TALDO1@p.S293C 1 0.338983051 ENSG00000177156 chr11:764330-764330;C/G missense_variant False TALDO1@p.V183M 1 0.263636364 ENSG00000177156 chr11:763429-763429;G/A missense_variant False TAMALIN@p.E391K 1 0.235294118 ENSG00000161835 chr12:52015182-52015182;G/A missense_variant False TANC1@p.D1075N 1 0.272727273 ENSG00000115183 chr2:159199032-159199032;G/A missense_variant False TANC1@p.E861Q 1 0.2 ENSG00000115183 chr2:159185861-159185861;G/C missense_variant False TANC1@p.E931K 1 0.210526316 ENSG00000115183 chr2:159194305-159194305;G/A missense_variant False TANC1@p.E948K 1 0.222222222 ENSG00000115183 chr2:159194356-159194356;G/A missense_variant False TANC1@p.G1325E 1 0.377358491 ENSG00000115183 chr2:159227889-159227889;G/A missense_variant False TANC1@p.H36R 1 0.452380952 ENSG00000115183 chr2:159097682-159097682;A/G missense_variant False TANC1@p.H944Y 1 0.151898734 ENSG00000115183 chr2:159194344-159194344;C/T missense_variant False TANC1@p.R1089K 1 0.145669291 ENSG00000115183 chr2:159217518-159217518;G/A missense_variant False TANC1@p.R1376T 1 0.183908046 ENSG00000115183 chr2:159228872-159228872;G/C missense_variant False TANC1@p.R794S 1 0.217741935 ENSG00000115183 chr2:159179035-159179035;G/T missense_variant False TANC1@p.V89I 1 0.323809524 ENSG00000115183 chr2:159136199-159136199;G/A missense_variant False TANC2@p.D1850H 1 0.472727273 ENSG00000170921 chr17:63421530-63421530;G/C missense_variant False TAS2R60@p.S313L 1 0.077419355 ENSG00000185899 chr7:143444390-143444390;C/T missense_variant False TAS2R8@p.F106L 1 0.154545455 ENSG00000121314 chr12:10806663-10806663;G/C missense_variant False TAF1L@p.E438Rfs*27 1 0.278481013 ENSG00000122728 chr9:32634268-32634268;C/- frameshift_variant False TBC1D9@p.K993N 1 0.294117647 ENSG00000109436 chr4:140624215-140624215;C/G missense_variant False TBC1D9B@p.G1062R 1 0.2 ENSG00000197226 chr5:179864017-179864017;C/T missense_variant False TBC1D9B@p.F184L 1 0.1875 ENSG00000197226 chr5:179894413-179894413;A/G missense_variant False TBC1D9B@p.E760Q 1 0.183673469 ENSG00000197226 chr5:179873157-179873157;C/G missense_variant False TBC1D9B@p.E1029K 1 0.5625 ENSG00000197226 chr5:179864116-179864116;C/T missense_variant False TBC1D9@p.S292N 1 0.205607477 ENSG00000109436 chr4:140677078-140677078;C/T missense_variant False TBC1D9@p.L286V 1 0.081395349 ENSG00000109436 chr4:140677097-140677097;G/C missense_variant False TBC1D9@p.K1098N 1 0.225806452 ENSG00000109436 chr4:140622702-140622702;C/G missense_variant False TBC1D9B@p.S275L 1 0.375 ENSG00000197226 chr5:179893221-179893221;G/A missense_variant False TBC1D9@p.E689Q 1 0.276595745 ENSG00000109436 chr4:140657669-140657669;C/G missense_variant False TBC1D9@p.E411Q 1 0.156862745 ENSG00000109436 chr4:140670755-140670755;C/G missense_variant False TBC1D9@p.E18K 1 0.315789474 ENSG00000109436 chr4:140755994-140755994;C/T missense_variant False TBC1D9@p.E156Q 1 0.413043478 ENSG00000109436 chr4:140679738-140679738;C/G missense_variant False TBC1D8B@p.S406F 1 0.465116279 ENSG00000133138 chrX:106839321-106839321;C/T missense_variant False TBC1D8B@p.S22F 1 0.12962963 ENSG00000133138 chrX:106802918-106802918;C/T missense_variant False TBC1D9B@p.S1158L 1 0.326086957 ENSG00000197226 chr5:179863728-179863728;G/A missense_variant False TBC1D9B@p.V1192I 1 0.128205128 ENSG00000197226 chr5:179863627-179863627;C/T missense_variant False TAS2R9@p.F178I 1 0.337209302 ENSG00000121381 chr12:10809544-10809544;A/T missense_variant False TBCCD1@p.R147K 1 0.189655172 ENSG00000113838 chr3:186558469-186558469;C/T missense_variant False TBCD@p.R169H 1 0.879562044 ENSG00000141556 chr17:82768490-82768490;G/A missense_variant False TBCD@p.L73V 1 0.346153846 ENSG00000141556 chr17:82756197-82756197;C/G missense_variant False TBCD@p.G419V 1 0.637931034 ENSG00000141556 chr17:82814872-82814872;G/T missense_variant False TBCD@p.F1059L 1 0.225352113 ENSG00000141556 chr17:82932721-82932721;C/G missense_variant False TBCD@p.E912K 1 0.23255814 ENSG00000141556 chr17:82929153-82929153;G/A missense_variant False TBCD@p.C904F 1 0.087378641 ENSG00000141556 chr17:82929130-82929130;G/T missense_variant False TBCCD1@p.E427Q 1 0.133333333 ENSG00000113838 chr3:186554519-186554519;C/G missense_variant False TBCA@p.M62I 1 0.285714286 ENSG00000171530 chr5:77693326-77693326;C/A missense_variant False TBCCD1@p.A511T 1 0.145454545 ENSG00000113838 chr3:186554267-186554267;C/T missense_variant False TBCC@p.W294C 1 0.273684211 ENSG00000124659 chr6:42745192-42745192;C/G missense_variant False TBCC@p.E27Q 1 0.488372093 ENSG00000124659 chr6:42745995-42745995;C/G missense_variant False TBCC@p.E247Q 1 0.287878788 ENSG00000124659 chr6:42745335-42745335;C/G missense_variant False TBCC@p.E200Q 1 0.406779661 ENSG00000124659 chr6:42745476-42745476;C/G missense_variant False TBCB@p.E25Q 1 0.111111111 ENSG00000105254 chr19:36115633-36115633;G/C missense_variant False TBC1D8B@p.R387T 1 0.975206612 ENSG00000133138 chrX:106827294-106827294;G/C missense_variant False TBC1D8B@p.P270A 1 0.731707317 ENSG00000133138 chrX:106823447-106823447;C/G missense_variant False TBC1D8B@p.I322T 1 0.161764706 ENSG00000133138 chrX:106826167-106826167;T/C missense_variant False TBC1D4@p.E629Q 1 0.34 ENSG00000136111 chr13:75326345-75326345;C/G missense_variant False TBC1D5@p.D430H 1 0.219672131 ENSG00000131374 chr3:17258549-17258549;C/G missense_variant False TBC1D5@p.A261D 1 0.25 ENSG00000131374 chr3:17374511-17374511;G/T missense_variant False TBC1D4@p.S1059C 1 0.159090909 ENSG00000136111 chr13:75294994-75294994;G/C missense_variant False TBC1D4@p.R901K 1 0.321428571 ENSG00000136111 chr13:75306363-75306363;C/T missense_variant False TBC1D4@p.R80Q 1 0.210526316 ENSG00000136111 chr13:75481529-75481529;C/T missense_variant False TBC1D4@p.L897Cfs*2 1 0.145454545 ENSG00000136111 chr13:75306375-75306375;A/- frameshift_variant False TBC1D4@p.D868H 1 0.333333333 ENSG00000136111 chr13:75306463-75306463;C/G missense_variant False TBC1D8B@p.H848Y 1 0.165562914 ENSG00000133138 chrX:106865913-106865913;C/T missense_variant False TBC1D4@p.D163Y 1 0.574468085 ENSG00000136111 chr13:75481281-75481281;C/A missense_variant False TBC1D4@p.D1064H 1 0.401960784 ENSG00000136111 chr13:75294980-75294980;C/G missense_variant False TBC1D3L@p.F506L 1 0.186746988 ENSG00000274512 chr17:37978602-37978602;G/C missense_variant False TBC1D3F@p.E86K 1 0.261792453 ENSG00000275954 chr17:36435799-36435799;C/T missense_variant False TBC1D32@p.A740G 1 0.157894737 ENSG00000146350 chr6:121241491-121241491;G/C missense_variant False TBC1D31@p.R928T 1 0.125 ENSG00000156787 chr8:123142404-123142404;G/C missense_variant False TBC1D5@p.E342K 1 0.454545455 ENSG00000131374 chr3:17308106-17308106;C/T missense_variant False TBC1D5@p.Q100E 1 0.102040816 ENSG00000131374 chr3:17404940-17404940;G/C missense_variant False TBC1D5@p.Q621E 1 0.076923077 ENSG00000131374 chr3:17167820-17167820;G/C missense_variant False TBC1D5@p.S477C 1 0.254901961 ENSG00000131374 chr3:17238322-17238322;T/A missense_variant False TBC1D5@p.S500L 1 0.590909091 ENSG00000131374 chr3:17238252-17238252;G/A missense_variant False TBC1D7@p.D4H 1 0.161290323 ENSG00000145979 chr6:13326889-13326889;C/G missense_variant False TBC1D8@p.D935N 1 0.141304348 ENSG00000204634 chr2:101011520-101011520;C/T missense_variant False TBC1D8@p.E982K 1 0.14893617 ENSG00000204634 chr2:101010955-101010955;C/T missense_variant False TBC1D8@p.S1051L 1 0.12 ENSG00000204634 chr2:101008092-101008092;G/A missense_variant False TBC1D8@p.S1133F 1 0.19138756 ENSG00000204634 chr2:101007846-101007846;G/A missense_variant False TBC1D8B@p.D1101H 1 0.371794872 ENSG00000133138 chrX:106873903-106873903;G/C missense_variant False TBC1D8B@p.D135H 1 0.348314607 ENSG00000133138 chrX:106822019-106822019;G/C missense_variant False TBC1D8B@p.D535H 1 0.178082192 ENSG00000133138 chrX:106840768-106840768;G/C missense_variant False TBC1D8B@p.E155Q 1 0.299212598 ENSG00000133138 chrX:106822079-106822079;G/C missense_variant False TBC1D8B@p.E590K 1 0.2 ENSG00000133138 chrX:106848234-106848234;G/A missense_variant False TBC1D8B@p.E897K 1 0.910714286 ENSG00000133138 chrX:106866823-106866823;G/A missense_variant False TBC1D8B@p.G39V 1 0.6875 ENSG00000133138 chrX:106802969-106802969;G/T missense_variant False TBCD@p.V199L 1 0.140151515 ENSG00000141556 chr17:82772464-82772464;G/C missense_variant False TBCE@p.L378Q 1 0.23255814 ENSG00000285053 chr1:235441865-235441865;T/A missense_variant False TBCE@p.L419F 1 0.333333333 ENSG00000285053 chr1:235448393-235448393;C/T missense_variant False TBR1@p.P69L 1 0.127659574 ENSG00000136535 chr2:161416616-161416616;C/T missense_variant False TBRG4@p.S511C 1 0.316666667 ENSG00000136270 chr7:45101861-45101861;T/A missense_variant False TBRG4@p.S399L 1 0.439393939 ENSG00000136270 chr7:45102472-45102472;G/A missense_variant False TBRG4@p.R574Q 1 0.434782609 ENSG00000136270 chr7:45101331-45101331;C/T missense_variant False TBRG4@p.M228I 1 0.193277311 ENSG00000136270 chr7:45105492-45105492;C/T missense_variant False TBRG4@p.E69K 1 0.15 ENSG00000136270 chr7:45109033-45109033;C/T missense_variant False TBRG1@p.M343I 1 0.244274809 ENSG00000154144 chr11:124631356-124631356;G/A missense_variant False TBR1@p.N280H 1 0.166666667 ENSG00000136535 chr2:161417821-161417821;A/C missense_variant False TBL3@p.D542H 1 0.297297297 ENSG00000183751 chr16:1977237-1977237;G/C missense_variant False TBR1@p.H37Y 1 0.169491525 ENSG00000136535 chr2:161416519-161416519;C/T missense_variant False TBPL1@p.E75K 1 0.615384615 ENSG00000028839 chr6:133982821-133982821;G/A missense_variant False TBP@p.S115L 1 0.146341463 ENSG00000112592 chr6:170562080-170562080;C/T missense_variant False TBP@p.E54K 1 0.076923077 ENSG00000112592 chr6:170561896-170561896;G/A missense_variant False TBL3@p.H297P 1 0.125 ENSG00000183751 chr16:1975613-1975613;A/C missense_variant False TBL3@p.G55E 1 0.304964539 ENSG00000183751 chr16:1974267-1974267;G/A missense_variant False TBX15@p.D294N 1 0.18627451 ENSG00000092607 chr1:118914161-118914161;C/T missense_variant False TBX15@p.S360L 1 0.177777778 ENSG00000092607 chr1:118885462-118885462;G/A missense_variant False TBX15@p.S536N 1 0.084745763 ENSG00000092607 chr1:118884934-118884934;C/T missense_variant False TBX15@p.T275I 1 0.685714286 ENSG00000092607 chr1:118923473-118923473;G/A missense_variant False TBX18@p.P226T 1 0.152173913 ENSG00000112837 chr6:84756793-84756793;G/T missense_variant False TBX18@p.Q444H 1 0.111111111 ENSG00000112837 chr6:84737177-84737177;C/A missense_variant False TBX19@p.E410D 1 0.5 ENSG00000143178 chr1:168312885-168312885;G/T missense_variant False TBX19@p.R31T 1 0.054187192 ENSG00000143178 chr1:168281182-168281182;G/C missense_variant False TBX19@p.S402L 1 0.493333333 ENSG00000143178 chr1:168312860-168312860;C/T missense_variant False TBX19@p.T64S 1 0.088235294 ENSG00000143178 chr1:168281281-168281281;C/G missense_variant False TBX1@p.E349K 1 0.41025641 ENSG00000184058 chr22:19779255-19779255;G/A missense_variant False TBX1@p.H194Q 1 0.148571429 ENSG00000184058 chr22:19764224-19764224;C/G missense_variant False TBX1@p.P152A 1 0.452380952 ENSG00000184058 chr22:19763284-19763284;C/G missense_variant False TBX20@p.R161G 1 0.197916667 ENSG00000164532 chr7:35248741-35248741;G/C missense_variant False TBX22@p.A30V 1 0.85 ENSG00000122145 chrX:80022358-80022358;C/T missense_variant False TBX22@p.D234H 1 0.547619048 ENSG00000122145 chrX:80026770-80026770;G/C missense_variant False TBX22@p.T297N 1 0.21875 ENSG00000122145 chrX:80028017-80028017;C/A missense_variant False TBL3@p.E751K 1 0.234375 ENSG00000183751 chr16:1978429-1978429;G/A missense_variant False TBL2@p.R131G 1 0.06557377 ENSG00000106638 chr7:73573993-73573993;T/C missense_variant False TBCE@p.Q255E 1 0.339622642 ENSG00000285053 chr1:235436597-235436597;C/G missense_variant False TBCK@p.L873V 1 0.209302326 ENSG00000145348 chr4:106046635-106046635;G/C missense_variant False TBK1@p.E641K 1 0.415254237 ENSG00000183735 chr12:64497221-64497221;G/A missense_variant False TBK1@p.E286Q 1 0.083333333 ENSG00000183735 chr12:64481885-64481885;G/C missense_variant False TBK1@p.D639H 1 0.345132743 ENSG00000183735 chr12:64497215-64497215;G/C missense_variant False TBK1@p.D453N 1 0.5 ENSG00000183735 chr12:64488503-64488503;G/A missense_variant False TBCK@p.S760L 1 0.191780822 ENSG00000145348 chr4:106116335-106116335;G/A missense_variant False TBCK@p.M268I 1 0.1875 ENSG00000145348 chr4:106247266-106247266;C/T missense_variant False TBCK@p.E337K 1 0.215686275 ENSG00000145348 chr4:106244687-106244687;C/T missense_variant False TBL1Y@p.E63Q 1 0.127906977 ENSG00000092377 chrY:7043108-7043108;G/C missense_variant False TBCK@p.E232K 1 0.542857143 ENSG00000145348 chr4:106248947-106248947;C/T missense_variant False TBCK@p.D689H 1 0.2 ENSG00000145348 chr4:106171265-106171265;C/G missense_variant False TBCK@p.D491N 1 0.477272727 ENSG00000145348 chr4:106233629-106233629;C/T missense_variant False TBCEL@p.R339T 1 0.131578947 ENSG00000154114 chr11:121086837-121086837;G/C missense_variant False TBCE@p.S198C 1 0.054644809 ENSG00000285053 chr1:235435789-235435789;C/G missense_variant False TBCE@p.S118C 1 0.421052632 ENSG00000285053 chr1:235414600-235414600;C/G missense_variant False TBK1@p.R228H 1 0.196891192 ENSG00000183735 chr12:64474372-64474372;G/A missense_variant False TBK1@p.R308Q 1 0.256410256 ENSG00000183735 chr12:64481952-64481952;G/A missense_variant False TBK1@p.S102C 1 0.294117647 ENSG00000183735 chr12:64464410-64464410;C/G missense_variant False TBKBP1@p.D607H 1 0.127906977 ENSG00000198933 chr17:47710597-47710597;G/C missense_variant False TBKBP1@p.E100K 1 0.422222222 ENSG00000198933 chr17:47696783-47696783;G/A missense_variant False TBKBP1@p.R228W 1 0.310344828 ENSG00000198933 chr17:47699367-47699367;C/T missense_variant False TBKBP1@p.R317K 1 0.346938776 ENSG00000198933 chr17:47708471-47708471;G/A missense_variant False TBL1X@p.I41M 1 0.75 ENSG00000101849 chrX:9654234-9654234;C/G missense_variant False TBL1X@p.Q156E 1 0.888888889 ENSG00000101849 chrX:9688125-9688125;C/G missense_variant False TBL1X@p.S56N 1 0.705882353 ENSG00000101849 chrX:9654278-9654278;G/A missense_variant False TBL1XR1@p.D152H 1 0.294117647 ENSG00000177565 chr3:177050584-177050584;C/G missense_variant False TBL1XR1@p.L363V 1 0.5 ENSG00000177565 chr3:177038133-177038133;G/C missense_variant False TBL1XR1@p.N126Kfs*19 1 0.298611111 ENSG00000177565 chr3:177051553-177051554;-/T frameshift_variant False TBL1XR1@p.Q97E 1 0.14893617 ENSG00000177565 chr3:177051642-177051642;G/C missense_variant False TBL1XR1@p.W376L 1 0.3 ENSG00000177565 chr3:177034321-177034321;C/A missense_variant False TBL1XR1@p.Y395D 1 0.235294118 ENSG00000177565 chr3:177034265-177034265;A/C missense_variant False TBL1Y@p.D391N 1 0.225352113 ENSG00000092377 chrY:7086308-7086308;G/A missense_variant False TBC1D31@p.R854K 1 0.157480315 ENSG00000156787 chr8:123140822-123140822;G/A missense_variant False TBC1D31@p.R820T 1 0.270833333 ENSG00000156787 chr8:123134166-123134166;G/C missense_variant False TBC1D31@p.R704T 1 0.306122449 ENSG00000156787 chr8:123128507-123128507;G/C missense_variant False TAX1BP1@p.E774Q 1 0.176470588 ENSG00000106052 chr7:27828779-27828779;G/C missense_variant False TAZ@p.M39I 1 0.421052632 ENSG00000102125 chrX:154412093-154412093;G/T missense_variant False TAZ@p.M217I 1 0.783505155 ENSG00000102125 chrX:154420216-154420216;G/A missense_variant False TAZ@p.E202K 1 0.730769231 ENSG00000102125 chrX:154420052-154420052;G/A missense_variant False TAX1BP1@p.S491L 1 0.138297872 ENSG00000106052 chr7:27794384-27794384;C/T missense_variant False TAX1BP1@p.R367W 1 0.161764706 ENSG00000106052 chr7:27792066-27792066;C/T missense_variant False TAX1BP1@p.L633V 1 0.187969925 ENSG00000106052 chr7:27816481-27816481;C/G missense_variant False TAX1BP1@p.E291K 1 0.055555556 ENSG00000106052 chr7:27787436-27787436;G/A missense_variant False TATDN1@p.R80T 1 0.616666667 ENSG00000147687 chr8:124515994-124515994;C/G missense_variant False TAX1BP1@p.E270Q 1 0.437956204 ENSG00000106052 chr7:27785445-27785445;G/C missense_variant False TAX1BP1@p.A416T 1 0.225806452 ENSG00000106052 chr7:27792213-27792213;G/A missense_variant False TATDN3@p.D21H 1 0.24 ENSG00000203705 chr1:212791982-212791982;G/C missense_variant False TATDN2@p.R173G 1 0.515463918 ENSG00000157014 chr3:10260239-10260239;A/G missense_variant False TATDN2@p.H566N 1 0.08 ENSG00000157014 chr3:10270878-10270878;C/A missense_variant False TATDN2@p.E554Q 1 0.340909091 ENSG00000157014 chr3:10270842-10270842;G/C missense_variant False TAZ@p.R57Q 1 0.64 ENSG00000102125 chrX:154412146-154412146;G/A missense_variant False TAZ@p.V157I 1 0.169491525 ENSG00000102125 chrX:154419551-154419551;G/A missense_variant False TBATA@p.R202S 1 0.85106383 ENSG00000166220 chr10:70777239-70777239;G/T missense_variant False TBATA@p.R51W 1 0.285714286 ENSG00000166220 chr10:70781927-70781927;G/A missense_variant False TBATA@p.S126C 1 0.25 ENSG00000166220 chr10:70779643-70779643;G/C missense_variant False TBC1D10A@p.E68K 1 0.192307692 ENSG00000099992 chr22:30326680-30326680;C/T missense_variant False TBC1D10A@p.F275L 1 0.453781513 ENSG00000099992 chr22:30293991-30293991;G/T missense_variant False TBC1D10A@p.F50L 1 0.373134328 ENSG00000099992 chr22:30326732-30326732;G/T missense_variant False TBC1D10A@p.K340N 1 0.15942029 ENSG00000099992 chr22:30293681-30293681;C/G missense_variant False TBC1D10B@p.I437M 1 0.4 ENSG00000169221 chr16:30359802-30359802;G/C missense_variant False TBC1D10C@p.G44V 1 0.298850575 ENSG00000175463 chr11:67404333-67404333;G/T missense_variant False TBC1D10C@p.P431L 1 0.482758621 ENSG00000175463 chr11:67409705-67409705;C/T missense_variant False TBC1D10C@p.Q142E 1 0.278688525 ENSG00000175463 chr11:67405658-67405658;C/G missense_variant False TBC1D10C@p.R90W 1 0.1875 ENSG00000175463 chr11:67405414-67405414;C/T missense_variant False TBC1D12@p.E643K 1 0.315789474 ENSG00000108239 chr10:94522380-94522380;G/A missense_variant False TBC1D12@p.P352L 1 0.357142857 ENSG00000108239 chr10:94441979-94441979;C/T missense_variant False TBC1D12@p.S732L 1 0.380434783 ENSG00000108239 chr10:94531396-94531396;C/T missense_variant False TATDN2@p.E133K 1 0.285714286 ENSG00000157014 chr3:10249597-10249597;G/A missense_variant False TAT@p.H229Y 1 0.304347826 ENSG00000198650 chr16:71572207-71572207;G/A missense_variant False TBC1D14@p.D253H 1 0.065088757 ENSG00000132405 chr4:6967338-6967338;G/C missense_variant False TASOR2@p.L37V 1 0.119565217 ENSG00000108021 chr10:5720933-5720933;C/G missense_variant False TASOR2@p.S182C 1 0.254237288 ENSG00000108021 chr10:5730544-5730544;C/G missense_variant False TASOR2@p.S1476F 1 0.134615385 ENSG00000108021 chr10:5747848-5747848;C/T missense_variant False TASOR2@p.R2234K 1 0.3375 ENSG00000108021 chr10:5756707-5756707;G/A missense_variant False TASOR2@p.R208H 1 0.242424242 ENSG00000108021 chr10:5730622-5730622;G/A missense_variant False TASOR2@p.Q492E 1 0.185714286 ENSG00000108021 chr10:5739644-5739644;C/G missense_variant False TASOR2@p.P1551A 1 0.209677419 ENSG00000108021 chr10:5748072-5748072;C/G missense_variant False TASOR2@p.L1286V 1 0.247787611 ENSG00000108021 chr10:5747277-5747277;C/G missense_variant False TAT@p.E337Q 1 0.156862745 ENSG00000198650 chr16:71570301-71570301;C/G missense_variant False TASOR2@p.E857K 1 0.103658537 ENSG00000108021 chr10:5742338-5742338;G/A missense_variant False TASOR2@p.E1677K 1 0.164383562 ENSG00000108021 chr10:5748450-5748450;G/A missense_variant False TASOR2@p.E1248K 1 0.371428571 ENSG00000108021 chr10:5747163-5747163;G/A missense_variant False TASOR2@p.D379H 1 0.074766355 ENSG00000108021 chr10:5731134-5731134;G/C missense_variant False TASOR2@p.D1735H 1 0.531914894 ENSG00000108021 chr10:5748624-5748624;G/C missense_variant False TASOR2@p.A2180_L2186del 1 0.352941176 ENSG00000108021 chr10:5749958-5749978;GGCTTGTAAAAGTACCTTCCT/- inframe_deletion False TASOR2@p.S851C 1 0.680412371 ENSG00000108021 chr10:5742321-5742321;C/G missense_variant False TASOR2@p.T1720I 1 0.44 ENSG00000108021 chr10:5748580-5748580;C/T missense_variant False TASOR2@p.V2177L 1 0.545454545 ENSG00000108021 chr10:5749950-5749950;G/C missense_variant False TASOR2@p.Y2429C 1 0.427710843 ENSG00000108021 chr10:5762643-5762643;A/G missense_variant False TASOR@p.D1586G 1 0.523809524 ENSG00000163946 chr3:56623110-56623110;T/C missense_variant False TASOR@p.F1067L 1 0.05 ENSG00000163946 chr3:56633407-56633407;G/C missense_variant False TASOR@p.L1211S 1 0.275862069 ENSG00000163946 chr3:56628547-56628547;A/G missense_variant False TASOR@p.L470I 1 0.113924051 ENSG00000163946 chr3:56649018-56649018;G/T missense_variant False TASOR@p.M1100I 1 0.361538462 ENSG00000163946 chr3:56633308-56633308;C/T missense_variant False TASOR@p.N626S 1 0.264705882 ENSG00000163946 chr3:56646860-56646860;T/C missense_variant False TASOR@p.P893S 1 0.12 ENSG00000163946 chr3:56640073-56640073;G/A missense_variant False TASOR@p.Q1556E 1 0.111111111 ENSG00000163946 chr3:56623201-56623201;G/C missense_variant False TASOR@p.Q1571E 1 0.293333333 ENSG00000163946 chr3:56623156-56623156;G/C missense_variant False TASOR@p.T1329R 1 0.102564103 ENSG00000163946 chr3:56624977-56624977;G/C missense_variant False TASP1@p.G178E 1 0.191176471 ENSG00000089123 chr20:13569542-13569542;C/T missense_variant False TASP1@p.G294A 1 0.270627063 ENSG00000089123 chr20:13483331-13483331;C/G missense_variant False TASP1@p.K28N 1 0.076923077 ENSG00000089123 chr20:13629995-13629995;T/A missense_variant False TBC1D13@p.S32R 1 0.298076923 ENSG00000107021 chr9:128788404-128788404;A/C missense_variant False TBC1D14@p.F655L 1 0.425531915 ENSG00000132405 chr4:7025209-7025209;T/C missense_variant False TBC1D31@p.H263Y 1 0.240740741 ENSG00000156787 chr8:123097397-123097397;C/T missense_variant False TBC1D21@p.E321Q 1 0.117647059 ENSG00000167139 chr15:73888496-73888496;G/C missense_variant False TBC1D23@p.E598K 1 0.34375 ENSG00000036054 chr3:100319173-100319173;G/A missense_variant False TBC1D23@p.A430D 1 0.25 ENSG00000036054 chr3:100304871-100304871;C/A missense_variant False TBC1D22B@p.S84C 1 0.366863905 ENSG00000065491 chr6:37279441-37279441;C/G missense_variant False TBC1D22B@p.E332K 1 0.121495327 ENSG00000065491 chr6:37312929-37312929;G/A missense_variant False TBC1D22A@p.E467D 1 0.220338983 ENSG00000054611 chr22:47111579-47111579;A/C missense_variant False TBC1D22A@p.A310T 1 0.20952381 ENSG00000054611 chr22:46912101-46912101;G/A missense_variant False TBC1D20@p.W393Vfs*20 1 0.138461538 ENSG00000125875 chr20:438611-438621;TTAGGGGCCCA/- frameshift_variant False TBC1D1@p.R718C 1 0.232876712 ENSG00000065882 chr4:38090033-38090033;C/T missense_variant False TBC1D20@p.S230F 1 0.5625 ENSG00000125875 chr20:440327-440327;G/A missense_variant False TBC1D20@p.R294K 1 0.2 ENSG00000125875 chr20:439183-439183;C/T missense_variant False TBC1D20@p.M339L 1 0.32231405 ENSG00000125875 chr20:438783-438783;T/G missense_variant False TBC1D20@p.M114I 1 0.111111111 ENSG00000125875 chr20:442039-442039;C/G missense_variant False TBC1D20@p.E306K 1 0.371428571 ENSG00000125875 chr20:439148-439148;C/T missense_variant False TBC1D1@p.S784L 1 0.407407407 ENSG00000065882 chr4:38096043-38096043;C/T missense_variant False TBC1D23@p.F552L 1 0.205128205 ENSG00000036054 chr3:100316156-100316156;C/G missense_variant False TBC1D23@p.S123N 1 0.274193548 ENSG00000036054 chr3:100283703-100283703;G/A missense_variant False TBC1D25@p.D669N 1 0.277777778 ENSG00000068354 chrX:48560913-48560913;G/A missense_variant False TBC1D25@p.G497S 1 0.184466019 ENSG00000068354 chrX:48560397-48560397;G/A missense_variant False TBC1D28@p.S150R 1 0.23015873 ENSG00000189375 chr17:18637911-18637911;G/C missense_variant False TBC1D2@p.D747N 1 0.360465116 ENSG00000095383 chr9:98203320-98203320;C/T missense_variant False TBC1D2@p.F733I 1 0.235294118 ENSG00000095383 chr9:98203362-98203362;A/T missense_variant False TBC1D2@p.L837F 1 0.181818182 ENSG00000095383 chr9:98200321-98200321;C/G missense_variant False TBC1D2@p.Q287H 1 0.12962963 ENSG00000095383 chr9:98229069-98229069;C/G missense_variant False TBC1D2@p.R141L 1 0.276923077 ENSG00000095383 chr9:98251874-98251874;C/A missense_variant False TBC1D2B@p.D748N 1 0.238095238 ENSG00000167202 chr15:78012851-78012851;C/T missense_variant False TBC1D2B@p.E452K 1 0.357142857 ENSG00000167202 chr15:78024272-78024272;C/T missense_variant False TBC1D2B@p.R385P 1 0.242647059 ENSG00000167202 chr15:78024472-78024472;C/G missense_variant False TBC1D31@p.D269H 1 0.056818182 ENSG00000156787 chr8:123097415-123097415;G/C missense_variant False TBC1D31@p.D686H 1 0.087912088 ENSG00000156787 chr8:123128452-123128452;G/C missense_variant False TBC1D31@p.D967H 1 0.319148936 ENSG00000156787 chr8:123144780-123144780;G/C missense_variant False TBC1D31@p.E724V 1 0.079646018 ENSG00000156787 chr8:123129119-123129119;A/T missense_variant False TBC1D1@p.S71F 1 0.161490683 ENSG00000065882 chr4:37902307-37902307;C/T missense_variant False TBC1D1@p.R519K 1 0.077669903 ENSG00000065882 chr4:38045830-38045830;G/A missense_variant False TBC1D15@p.H85D 1 0.217391304 ENSG00000121749 chr12:71880517-71880517;C/G missense_variant False TBC1D16@p.E329Q 1 0.290322581 ENSG00000167291 chr17:79951554-79951554;C/G missense_variant False TBC1D16@p.S177W 1 0.5 ENSG00000167291 chr17:80010409-80010409;G/C missense_variant False TBC1D16@p.K41N 1 0.689655172 ENSG00000167291 chr17:80013425-80013425;C/G missense_variant False TBC1D16@p.I38M 1 0.222222222 ENSG00000167291 chr17:80013434-80013434;G/C missense_variant False TBC1D16@p.F501L 1 0.406130268 ENSG00000167291 chr17:79948910-79948910;G/T missense_variant False TBC1D16@p.F480C 1 0.079545455 ENSG00000167291 chr17:79948974-79948974;A/C missense_variant False TBC1D16@p.E543K 1 0.142857143 ENSG00000167291 chr17:79947746-79947746;C/T missense_variant False TBC1D15@p.W365C 1 0.388888889 ENSG00000121749 chr12:71896736-71896736;G/C missense_variant False TBC1D1@p.M623I 1 0.697435897 ENSG00000065882 chr4:38049857-38049857;G/C missense_variant False TBC1D15@p.S640L 1 0.115151515 ENSG00000121749 chr12:71923047-71923047;C/T missense_variant False TBC1D15@p.S318L 1 0.1875 ENSG00000121749 chr12:71895993-71895993;C/T missense_variant False TBC1D15@p.R405K 1 0.262135922 ENSG00000121749 chr12:71897921-71897921;G/A missense_variant False TBC1D15@p.Q312E 1 0.428571429 ENSG00000121749 chr12:71895974-71895974;C/G missense_variant False TBC1D15@p.L663F 1 0.12195122 ENSG00000121749 chr12:71923117-71923117;G/T missense_variant False TBC1D15@p.L440F 1 0.137931034 ENSG00000121749 chr12:71907107-71907107;G/C missense_variant False TBC1D17@p.D402N 1 0.143129771 ENSG00000104946 chr19:49884330-49884330;G/A missense_variant False TBC1D17@p.D436H 1 0.125412541 ENSG00000104946 chr19:49884521-49884521;G/C missense_variant False TBC1D17@p.D56Y 1 0.173913043 ENSG00000104946 chr19:49878543-49878543;G/T missense_variant False TBC1D17@p.D71N 1 0.189189189 ENSG00000104946 chr19:49880294-49880294;G/A missense_variant False TBC1D17@p.E390Q 1 0.119170984 ENSG00000104946 chr19:49884294-49884294;G/C missense_variant False TBC1D17@p.S29F 1 0.5 ENSG00000104946 chr19:49878207-49878207;C/T missense_variant False TBC1D19@p.G470E 1 0.320574163 ENSG00000109680 chr4:26748500-26748500;G/A missense_variant False TBC1D19@p.L133V 1 0.115384615 ENSG00000109680 chr4:26638798-26638798;C/G missense_variant False TBC1D19@p.R442C 1 0.38372093 ENSG00000109680 chr4:26748415-26748415;C/T missense_variant False TBC1D1@p.A897S 1 0.154471545 ENSG00000065882 chr4:38115841-38115841;G/T missense_variant False TBC1D1@p.D572N 1 0.333333333 ENSG00000065882 chr4:38049702-38049702;G/A missense_variant False TBC1D1@p.D789H 1 0.212121212 ENSG00000065882 chr4:38096057-38096057;G/C missense_variant False TBC1D1@p.E457G 1 0.34375 ENSG00000065882 chr4:38035655-38035655;A/G missense_variant False TBC1D1@p.E808K 1 0.232 ENSG00000065882 chr4:38103022-38103022;G/A missense_variant False TBC1D1@p.F236L 1 0.3 ENSG00000065882 chr4:38014799-38014799;C/G missense_variant False TBC1D1@p.I147M 1 0.397260274 ENSG00000065882 chr4:38014532-38014532;C/G missense_variant False TBC1D1@p.L447F 1 0.173076923 ENSG00000065882 chr4:38035626-38035626;G/C missense_variant False TAF1L@p.G1804R 1 0.179487179 ENSG00000122728 chr9:32630170-32630170;C/T missense_variant False TAF1L@p.E1222D 1 0.085308057 ENSG00000122728 chr9:32631914-32631914;C/A missense_variant False SVIL@p.E1002Q 1 0.2 ENSG00000197321 chr10:29523610-29523610;C/G missense_variant False SYNE1@p.L6408S 1 0.341772152 ENSG00000131018 chr6:152255628-152255628;A/G missense_variant False SYNE1@p.M5619I 1 0.375 ENSG00000131018 chr6:152310727-152310727;C/G missense_variant False SYNE1@p.M4521I 1 0.17721519 ENSG00000131018 chr6:152331122-152331122;C/A missense_variant False SYNE1@p.M4246I 1 0.869565217 ENSG00000131018 chr6:152334064-152334064;C/T missense_variant False SYNE1@p.L8564I 1 0.371428571 ENSG00000131018 chr6:152135202-152135202;G/T missense_variant False SYNE1@p.L8429F 1 0.204545455 ENSG00000131018 chr6:152140121-152140121;C/G missense_variant False SYNE1@p.L7615M 1 0.85 ENSG00000131018 chr6:152206344-152206344;G/T missense_variant False SYNE1@p.L6011V 1 0.483870968 ENSG00000131018 chr6:152284154-152284154;G/C missense_variant False SYNE1@p.P479A 1 0.586206897 ENSG00000131018 chr6:152472329-152472329;G/C missense_variant False SYNE1@p.L3131V 1 0.452830189 ENSG00000131018 chr6:152373153-152373153;G/C missense_variant False SYNE1@p.L1191F 1 0.407894737 ENSG00000131018 chr6:152447554-152447554;C/G missense_variant False SYNE1@p.K7667R 1 0.264705882 ENSG00000131018 chr6:152206187-152206187;T/C missense_variant False SYNE1@p.K5451M 1 0.225806452 ENSG00000131018 chr6:152318900-152318900;T/A missense_variant False SYNE1@p.K5122Q 1 0.558139535 ENSG00000131018 chr6:152326032-152326032;T/G missense_variant False SYNE1@p.K1226N 1 0.454545455 ENSG00000131018 chr6:152444570-152444570;C/G missense_variant False SYNE1@p.M6999I 1 0.212121212 ENSG00000131018 chr6:152231433-152231433;C/G missense_variant False SYNE1@p.Q1970H 1 0.238938053 ENSG00000131018 chr6:152416527-152416527;C/G missense_variant False SYNJ1@p.E1261K 1 0.3 ENSG00000159082 chr21:32639704-32639704;C/T missense_variant False SYNE1@p.R3556T 1 0.078571429 ENSG00000131018 chr6:152354918-152354918;C/G missense_variant False SYNE1@p.S149C 1 0.489361702 ENSG00000131018 chr6:152510328-152510328;G/C missense_variant False SYNE1@p.S1034F 1 0.338983051 ENSG00000131018 chr6:152451132-152451132;G/A missense_variant False SYNE1@p.R7974T 1 0.259615385 ENSG00000131018 chr6:152155967-152155967;C/G missense_variant False SYNE1@p.R708K 1 0.542372881 ENSG00000131018 chr6:152462865-152462865;C/T missense_variant False SYNE1@p.R6296K 1 0.269662921 ENSG00000131018 chr6:152262117-152262117;C/T missense_variant False SYNE1@p.R4901S 1 0.346774194 ENSG00000131018 chr6:152329982-152329982;C/A missense_variant False SYNE1@p.Q6635R 1 0.5 ENSG00000131018 chr6:152239696-152239696;T/C missense_variant False SYNE1@p.Q2909H 1 0.146666667 ENSG00000131018 chr6:152381288-152381288;C/G missense_variant False SYNE1@p.Q6635K 1 0.448275862 ENSG00000131018 chr6:152239697-152239697;G/T missense_variant False SYNE1@p.Q6583H 1 0.18404908 ENSG00000131018 chr6:152242384-152242384;C/G missense_variant False SYNE1@p.Q6310H 1 0.333333333 ENSG00000131018 chr6:152262074-152262074;C/G missense_variant False SYNE1@p.Q6135H 1 0.061946903 ENSG00000131018 chr6:152278257-152278257;C/G missense_variant False SYNE1@p.Q3609R 1 0.318181818 ENSG00000131018 chr6:152354759-152354759;T/C missense_variant False SYNE1@p.Q3244E 1 0.227272727 ENSG00000131018 chr6:152369049-152369049;G/C missense_variant False SYNE1@p.I4655V 1 0.129496403 ENSG00000131018 chr6:152330722-152330722;T/C missense_variant False SYNE1@p.G996R 1 0.35483871 ENSG00000131018 chr6:152453627-152453627;C/T missense_variant False SYNE1@p.G7350R 1 0.123853211 ENSG00000131018 chr6:152218400-152218400;C/T missense_variant False SYNE1@p.E3568K 1 0.270676692 ENSG00000131018 chr6:152354883-152354883;C/T missense_variant False SYNE1@p.E557K 1 0.163265306 ENSG00000131018 chr6:152466042-152466042;C/T missense_variant False SYNE1@p.E4933Q 1 0.371134021 ENSG00000131018 chr6:152329888-152329888;C/G missense_variant False SYNE1@p.E4874K 1 0.145833333 ENSG00000131018 chr6:152330065-152330065;C/T missense_variant False SYNE1@p.E4293K 1 0.142857143 ENSG00000131018 chr6:152331808-152331808;C/T missense_variant False SYNE1@p.E4269Q 1 0.388888889 ENSG00000131018 chr6:152331880-152331880;C/G missense_variant False SYNE1@p.E3930Q 1 0.107142857 ENSG00000131018 chr6:152350281-152350281;C/G missense_variant False SYNE1@p.E2922D 1 0.075268817 ENSG00000131018 chr6:152381249-152381249;C/G missense_variant False SYNE1@p.G5823R 1 0.368421053 ENSG00000131018 chr6:152301943-152301943;C/G missense_variant False SYNE1@p.E2757K 1 0.341772152 ENSG00000131018 chr6:152387290-152387290;C/T missense_variant False SYNE1@p.E2729Q 1 0.155172414 ENSG00000131018 chr6:152387374-152387374;C/G missense_variant False SYNE1@p.E2651K 1 0.348837209 ENSG00000131018 chr6:152391330-152391330;C/T missense_variant False SYNE1@p.E2293Q 1 0.425287356 ENSG00000131018 chr6:152401290-152401290;C/G missense_variant False SYNE1@p.E1960Q 1 0.05785124 ENSG00000131018 chr6:152416559-152416559;C/G missense_variant False SYNE1@p.E1766Q 1 0.23880597 ENSG00000131018 chr6:152419694-152419694;C/G missense_variant False SYNE1@p.E5640D 1 0.311111111 ENSG00000131018 chr6:152310495-152310495;C/A missense_variant False SYNE1@p.E6034K 1 0.1 ENSG00000131018 chr6:152284085-152284085;C/T missense_variant False SYNE1@p.E6257D 1 0.423076923 ENSG00000131018 chr6:152268100-152268100;C/G missense_variant False SYNE1@p.E6446D 1 0.333333333 ENSG00000131018 chr6:152255012-152255012;C/G missense_variant False SYNE1@p.E6535Q 1 0.572916667 ENSG00000131018 chr6:152244626-152244626;C/G missense_variant False SYNE1@p.E784V 1 0.236842105 ENSG00000131018 chr6:152461640-152461640;T/A missense_variant False SYNE1@p.E7854K 1 0.602040816 ENSG00000131018 chr6:152176461-152176461;C/T missense_variant False SYNE1@p.E7995K 1 0.395522388 ENSG00000131018 chr6:152155038-152155038;C/T missense_variant False SYNE1@p.E8019K 1 0.140350877 ENSG00000131018 chr6:152154966-152154966;C/T missense_variant False SYNE1@p.E8353K 1 0.253012048 ENSG00000131018 chr6:152143685-152143685;C/T missense_variant False SYNE1@p.E8398Q 1 0.804878049 ENSG00000131018 chr6:152141257-152141257;C/G missense_variant False SYNE1@p.F1031L 1 0.154761905 ENSG00000131018 chr6:152451140-152451140;G/T missense_variant False SYNE1@p.F3285L 1 0.387755102 ENSG00000131018 chr6:152367335-152367335;G/C missense_variant False SYNE1@p.G1545A 1 0.083333333 ENSG00000131018 chr6:152430537-152430537;C/G missense_variant False SYNE1@p.G2688W 1 0.20754717 ENSG00000131018 chr6:152390395-152390395;C/A missense_variant False SYNE1@p.G4012S 1 0.222222222 ENSG00000131018 chr6:152347103-152347103;C/T missense_variant False SYNE1@p.G4975A 1 0.264550265 ENSG00000131018 chr6:152329761-152329761;C/G missense_variant False SYNE1@p.S1613L 1 0.408602151 ENSG00000131018 chr6:152428343-152428343;G/A missense_variant False SYNE1@p.S1941N 1 0.242424242 ENSG00000131018 chr6:152416615-152416615;C/T missense_variant False SYNE1@p.S5334F 1 0.240384615 ENSG00000131018 chr6:152321803-152321803;G/A missense_variant False SYNE2@p.S6361F 1 0.460784314 ENSG00000054654 chr14:64214219-64214219;C/T missense_variant False SYNE3@p.E56K 1 0.163265306 ENSG00000176438 chr14:95467946-95467946;C/T missense_variant False SYNE3@p.E141K 1 0.362637363 ENSG00000176438 chr14:95466137-95466137;C/T missense_variant False SYNE3@p.D530Afs*132 1 0.3125 ENSG00000176438 chr14:95445937-95445952;CTGTTATGCAGCAGGT/- frameshift_variant False SYNE2@p.T49A 1 0.140350877 ENSG00000054654 chr14:63941698-63941698;A/G missense_variant False SYNE2@p.S841L 1 0.298701299 ENSG00000054654 chr14:63990991-63990991;C/T missense_variant False SYNE2@p.S6793F 1 0.406779661 ENSG00000054654 chr14:64224525-64224525;C/T missense_variant False SYNE2@p.S3907L 1 0.352941176 ENSG00000054654 chr14:64089623-64089623;C/T missense_variant False SYNE2@p.Q4355E 1 0.235772358 ENSG00000054654 chr14:64120966-64120966;C/G missense_variant False SYNE2@p.S3388L 1 0.265306122 ENSG00000054654 chr14:64062846-64062846;C/T missense_variant False SYNE2@p.S2892L 1 0.536585366 ENSG00000054654 chr14:64052588-64052588;C/T missense_variant False SYNE2@p.S2420C 1 0.194444444 ENSG00000054654 chr14:64048037-64048037;C/G missense_variant False SYNE2@p.R5714C 1 0.484848485 ENSG00000054654 chr14:64170367-64170367;C/T missense_variant False SYNE2@p.Q6374H 1 0.431192661 ENSG00000054654 chr14:64214259-64214259;G/C missense_variant False SYNE2@p.Q6108H 1 0.096774194 ENSG00000054654 chr14:64208880-64208880;G/C missense_variant False SYNE3@p.E684K 1 0.073770492 ENSG00000176438 chr14:95439937-95439937;C/T missense_variant False SYNE3@p.R491H 1 0.2109375 ENSG00000176438 chr14:95446069-95446069;C/T missense_variant False SYNE3@p.R562S 1 0.468085106 ENSG00000176438 chr14:95444575-95444575;C/A missense_variant False SYNGAP1@p.E1218Q 1 0.105263158 ENSG00000197283 chr6:33446644-33446644;G/C missense_variant False SYNGAP1@p.I1233Sfs*2 1 0.43902439 ENSG00000197283 chr6:33446686-33446686;A/- frameshift_variant False SYNGAP1@p.R135Q 1 0.419354839 ENSG00000197283 chr6:33432701-33432701;G/A missense_variant False SYNGAP1@p.R78G 1 0.385964912 ENSG00000197283 chr6:33425840-33425840;C/G missense_variant False SYNGAP1@p.S379L 1 0.306122449 ENSG00000197283 chr6:33438041-33438041;C/T missense_variant False SYNGR1@p.R101G 1 0.066350711 ENSG00000100321 chr22:39374517-39374517;C/G missense_variant False SYNGR2@p.A193T 1 0.347222222 ENSG00000108639 chr17:78171838-78171838;G/A missense_variant False SYNGR2@p.A90T 1 0.217948718 ENSG00000108639 chr17:78170985-78170985;G/A missense_variant False SYNGR2@p.E216K 1 0.295918367 ENSG00000108639 chr17:78171907-78171907;G/A missense_variant False SYNGR2@p.S164F 1 0.859504132 ENSG00000108639 chr17:78171752-78171752;C/T missense_variant False SYNGR4@p.M230I 1 0.243243243 ENSG00000105467 chr19:48376303-48376303;G/A missense_variant False SYNJ1@p.D1049H 1 0.174603175 ENSG00000159082 chr21:32650193-32650193;C/G missense_variant False SYNJ1@p.D179H 1 0.068493151 ENSG00000159082 chr21:32699899-32699899;C/G missense_variant False SYNJ1@p.D263N 1 0.326923077 ENSG00000159082 chr21:32695092-32695092;C/T missense_variant False SYNE2@p.Q4422E 1 0.415841584 ENSG00000054654 chr14:64122117-64122117;C/G missense_variant False SYNE2@p.Q3708H 1 0.380952381 ENSG00000054654 chr14:64078567-64078567;G/C missense_variant False SYNE1@p.S7025L 1 0.140350877 ENSG00000131018 chr6:152230668-152230668;G/A missense_variant False SYNE2@p.E1632K 1 0.36036036 ENSG00000054654 chr14:64017601-64017601;G/A missense_variant False SYNE2@p.E3481Q 1 0.076923077 ENSG00000054654 chr14:64070654-64070654;G/C missense_variant False SYNE2@p.E3353Q 1 0.5 ENSG00000054654 chr14:64056256-64056256;G/C missense_variant False SYNE2@p.E3276K 1 0.343283582 ENSG00000054654 chr14:64056025-64056025;G/A missense_variant False SYNE2@p.E2749K 1 0.238390093 ENSG00000054654 chr14:64052158-64052158;G/A missense_variant False SYNE2@p.E2698Q 1 0.224137931 ENSG00000054654 chr14:64052005-64052005;G/C missense_variant False SYNE2@p.E2456Q 1 0.379310345 ENSG00000054654 chr14:64048144-64048144;G/C missense_variant False SYNE2@p.E1483K 1 0.157894737 ENSG00000054654 chr14:64007092-64007092;G/A missense_variant False SYNE2@p.P1495A 1 0.046511628 ENSG00000054654 chr14:64007128-64007128;C/G missense_variant False SYNE2@p.E1280Q 1 0.098901099 ENSG00000054654 chr14:64002771-64002771;G/C missense_variant False SYNE2@p.D641H 1 0.418918919 ENSG00000054654 chr14:63982714-63982714;G/C missense_variant False SYNE2@p.D5083N 1 0.218181818 ENSG00000054654 chr14:64142029-64142029;G/A missense_variant False SYNE2@p.D2331N 1 0.269230769 ENSG00000054654 chr14:64031127-64031127;G/A missense_variant False SYNE2@p.D1390H 1 0.5 ENSG00000054654 chr14:64003101-64003101;G/C missense_variant False SYNE1@p.S7634L 1 0.370967742 ENSG00000131018 chr6:152206286-152206286;G/A missense_variant False SYNE2@p.E3714Q 1 0.468085106 ENSG00000054654 chr14:64078583-64078583;G/C missense_variant False SYNE2@p.E4605Q 1 0.48 ENSG00000054654 chr14:64126703-64126703;G/C missense_variant False SYNE2@p.E4695K 1 0.125 ENSG00000054654 chr14:64129845-64129845;G/A missense_variant False SYNE2@p.E4923K 1 0.153846154 ENSG00000054654 chr14:64137907-64137907;G/A missense_variant False SYNE2@p.E5200K 1 0.222222222 ENSG00000054654 chr14:64146182-64146182;G/A missense_variant False SYNE2@p.E6407_V6412del 1 0.090322581 ENSG00000054654 chr14:64214356-64214373;GAGACCCCTGTCAGCGTG/- inframe_deletion False SYNE2@p.E6701Q 1 0.047297297 ENSG00000054654 chr14:64221684-64221684;G/C missense_variant False SYNE2@p.E740K 1 0.368421053 ENSG00000054654 chr14:63986522-63986522;G/A missense_variant False SYNE2@p.F1696C 1 0.514285714 ENSG00000054654 chr14:64020029-64020029;T/G missense_variant False SYNE2@p.G213R 1 0.159090909 ENSG00000054654 chr14:63954765-63954765;G/C missense_variant False SYNE2@p.I3644M 1 0.24137931 ENSG00000054654 chr14:64076010-64076010;C/G missense_variant False SYNE2@p.I4884M 1 0.142857143 ENSG00000054654 chr14:64137792-64137792;A/G missense_variant False SYNE2@p.I846M 1 0.078651685 ENSG00000054654 chr14:63991007-63991007;C/G missense_variant False SYNE2@p.K5257N 1 0.060869565 ENSG00000054654 chr14:64152695-64152695;G/C missense_variant False SYNE2@p.M6765V 1 0.32 ENSG00000054654 chr14:64223360-64223360;A/G missense_variant False SYNE2@p.M850V 1 0.836363636 ENSG00000054654 chr14:63991017-63991017;A/G missense_variant False SYNE2@p.N1133S 1 0.287234043 ENSG00000054654 chr14:63998958-63998958;A/G missense_variant False SYNE1@p.E1663K 1 0.362637363 ENSG00000131018 chr6:152427806-152427806;C/T missense_variant False SYNE1@p.E162K 1 0.42 ENSG00000131018 chr6:152510290-152510290;C/T missense_variant False SYNE1@p.E1266K 1 0.4125 ENSG00000131018 chr6:152444452-152444452;C/T missense_variant False SYAP1@p.E229Q 1 0.423076923 ENSG00000169895 chrX:16755054-16755054;G/C missense_variant False SYBU@p.G193D 1 0.091304348 ENSG00000147642 chr8:109579955-109579955;C/T missense_variant False SYBU@p.E51K 1 0.148648649 ENSG00000147642 chr8:109642806-109642806;C/T missense_variant False SYBU@p.E444K 1 0.103448276 ENSG00000147642 chr8:109575568-109575568;C/T missense_variant False SYBU@p.E317Q 1 0.247619048 ENSG00000147642 chr8:109575949-109575949;C/G missense_variant False SYBU@p.D527N 1 0.244897959 ENSG00000147642 chr8:109575319-109575319;C/T missense_variant False SYBU@p.D408H 1 0.120879121 ENSG00000147642 chr8:109575676-109575676;C/G missense_variant False SYAP1@p.D281N 1 0.375 ENSG00000169895 chrX:16757219-16757219;G/A missense_variant False SWT1@p.E649Q 1 0.076923077 ENSG00000116668 chr1:185206736-185206736;G/C missense_variant False SWT1@p.S92L 1 0.136363636 ENSG00000116668 chr1:185174422-185174422;C/T missense_variant False SWT1@p.S384L 1 0.165876777 ENSG00000116668 chr1:185184255-185184255;C/T missense_variant False SWT1@p.R267T 1 0.38410596 ENSG00000116668 chr1:185174947-185174947;G/C missense_variant False SWT1@p.Q14E 1 0.246753247 ENSG00000116668 chr1:185160881-185160881;C/G missense_variant False SWT1@p.N654D 1 0.473684211 ENSG00000116668 chr1:185206751-185206751;A/G missense_variant False SWT1@p.N515K 1 0.318181818 ENSG00000116668 chr1:185202675-185202675;C/G missense_variant False SYBU@p.G233D 1 0.657894737 ENSG00000147642 chr8:109579835-109579835;C/T missense_variant False SYBU@p.R12T 1 0.347826087 ENSG00000147642 chr8:109642922-109642922;C/G missense_variant False SYBU@p.S151L 1 0.586206897 ENSG00000147642 chr8:109586138-109586138;G/A missense_variant False SYBU@p.S247C 1 0.451612903 ENSG00000147642 chr8:109578012-109578012;G/C missense_variant False SYBU@p.S438N 1 0.309090909 ENSG00000147642 chr8:109575585-109575585;C/T missense_variant False SYBU@p.S550L 1 0.152173913 ENSG00000147642 chr8:109575249-109575249;G/A missense_variant False SYCE1@p.A238V 1 0.634408602 ENSG00000171772 chr10:133555786-133555786;G/A missense_variant False SYCE1@p.E122K 1 0.178571429 ENSG00000171772 chr10:133557874-133557874;C/T missense_variant False SYCE2@p.D88N 1 0.136054422 ENSG00000161860 chr19:12904536-12904536;C/T missense_variant False SYCE2@p.G40R 1 0.137931034 ENSG00000161860 chr19:12918235-12918235;C/T missense_variant False SYCP1@p.E290D 1 0.296703297 ENSG00000198765 chr1:114878162-114878162;G/T missense_variant False SYCP1@p.E43K 1 0.090909091 ENSG00000198765 chr1:114856591-114856591;G/A missense_variant False SYCP1@p.E498Q 1 0.578947368 ENSG00000198765 chr1:114911545-114911545;G/C missense_variant False SYCP1@p.E581K 1 0.807692308 ENSG00000198765 chr1:114923471-114923471;G/A missense_variant False SYCP1@p.E972K 1 0.153846154 ENSG00000198765 chr1:114995002-114995002;G/A missense_variant False SYCP1@p.K451E 1 0.154929577 ENSG00000198765 chr1:114910427-114910427;A/G missense_variant False SYCP1@p.L871F 1 0.264864865 ENSG00000198765 chr1:114984778-114984778;G/C missense_variant False SWT1@p.L479F 1 0.186046512 ENSG00000116668 chr1:185190556-185190556;G/C missense_variant False SWSAP1@p.S225C 1 0.555555556 ENSG00000173928 chr19:11376000-11376000;C/G missense_variant False SYCP1@p.S842F 1 0.24137931 ENSG00000198765 chr1:114981478-114981478;C/T missense_variant False SVIL@p.K2081N 1 0.25 ENSG00000197321 chr10:29463526-29463526;C/A missense_variant False SVIL@p.R1451T 1 0.277777778 ENSG00000197321 chr10:29487296-29487296;C/G missense_variant False SVIL@p.Q795H 1 0.2 ENSG00000197321 chr10:29524673-29524673;C/G missense_variant False SVIL@p.P659H 1 0.118343195 ENSG00000197321 chr10:29532035-29532035;G/T missense_variant False SVIL@p.N606I 1 0.228571429 ENSG00000197321 chr10:29532550-29532550;T/A missense_variant False SVIL@p.L67I 1 0.205882353 ENSG00000197321 chr10:29551225-29551225;G/T missense_variant False SVIL@p.L560F 1 0.182608696 ENSG00000197321 chr10:29532687-29532687;C/A missense_variant False SVIL@p.G478V 1 0.301587302 ENSG00000197321 chr10:29532934-29532934;C/A missense_variant False SWSAP1@p.P175S 1 0.304347826 ENSG00000173928 chr19:11375849-11375849;C/T missense_variant False SVIL@p.G1799E 1 0.136363636 ENSG00000197321 chr10:29473971-29473971;C/T missense_variant False SVIL@p.G1654R 1 0.270072993 ENSG00000197321 chr10:29481724-29481724;C/T missense_variant False SVIL@p.E647Q 1 0.300518135 ENSG00000197321 chr10:29532072-29532072;C/G missense_variant False SVIL@p.E572Q 1 0.486842105 ENSG00000197321 chr10:29532653-29532653;C/G missense_variant False SVIL@p.E508K 1 0.156521739 ENSG00000197321 chr10:29532845-29532845;C/T missense_variant False SVIL@p.E2169Q 1 0.46875 ENSG00000197321 chr10:29458487-29458487;C/G missense_variant False SVIL@p.R161K 1 0.172043011 ENSG00000197321 chr10:29550942-29550942;C/T missense_variant False SVIL@p.S1120L 1 0.52238806 ENSG00000197321 chr10:29522440-29522440;G/A missense_variant False SVIL@p.S662L 1 0.19266055 ENSG00000197321 chr10:29532026-29532026;G/A missense_variant False SVIL@p.S73F 1 0.276923077 ENSG00000197321 chr10:29551206-29551206;G/A missense_variant False SVIL@p.S757C 1 0.233333333 ENSG00000197321 chr10:29527033-29527033;G/C missense_variant False SVIL@p.S810F 1 0.183098592 ENSG00000197321 chr10:29524629-29524629;G/A missense_variant False SVIL@p.S86L 1 0.14516129 ENSG00000197321 chr10:29551167-29551167;G/A missense_variant False SVIL@p.S918L 1 0.132231405 ENSG00000197321 chr10:29523861-29523861;G/A missense_variant False SVIL@p.V1846D 1 0.565217391 ENSG00000197321 chr10:29471236-29471236;A/T missense_variant False SVOP@p.Q547E 1 0.267148014 ENSG00000166111 chr12:108912543-108912543;G/C missense_variant False SVOPL@p.G328R 1 0.09375 ENSG00000157703 chr7:138628245-138628245;C/T missense_variant False SVOPL@p.G460R 1 0.214285714 ENSG00000157703 chr7:138596506-138596506;C/G missense_variant False SVOPL@p.S185F 1 0.240740741 ENSG00000157703 chr7:138649118-138649118;G/A missense_variant False SWAP70@p.E79K 1 0.19047619 ENSG00000133789 chr11:9694281-9694281;G/A missense_variant False SWAP70@p.P46S 1 0.401785714 ENSG00000133789 chr11:9694182-9694182;C/T missense_variant False SWI5@p.I112M 1 0.169811321 ENSG00000175854 chr9:128284614-128284614;C/G missense_variant False SWI5@p.I23M 1 0.231578947 ENSG00000175854 chr9:128276593-128276593;C/G missense_variant False SYCP1@p.S832F 1 0.171875 ENSG00000198765 chr1:114981448-114981448;C/T missense_variant False SYCP2@p.D1434Y 1 0.324324324 ENSG00000196074 chr20:59866313-59866313;C/A missense_variant False SYNE1@p.D7276N 1 0.387323944 ENSG00000131018 chr6:152220877-152220877;C/T missense_variant False SYN2@p.L572F 1 0.055813953 ENSG00000157152 chr3:12190592-12190592;G/C missense_variant False SYNC@p.E437D 1 0.279069767 ENSG00000162520 chr1:32684305-32684305;C/G missense_variant False SYN3@p.S405C 1 0.15 ENSG00000185666 chr22:32528890-32528890;G/C missense_variant False SYN3@p.R27P 1 0.4 ENSG00000185666 chr22:33006583-33006583;C/G missense_variant False SYN3@p.M22I 1 0.787610619 ENSG00000185666 chr22:33006597-33006597;C/T missense_variant False SYN3@p.G401D 1 0.38 ENSG00000185666 chr22:32528902-32528902;C/T missense_variant False SYN3@p.E122D 1 0.12244898 ENSG00000185666 chr22:32980648-32980648;C/A missense_variant False SYN2@p.L418P 1 0.2 ENSG00000157152 chr3:12169851-12169851;T/C missense_variant False SYMPK@p.E231K 1 0.280254777 ENSG00000125755 chr19:45844186-45844186;C/T missense_variant False SYN1@p.P63A 1 0.3 ENSG00000008056 chrX:47619542-47619542;G/C missense_variant False SYN1@p.A155D 1 0.081081081 ENSG00000008056 chrX:47607008-47607008;G/T missense_variant False SYMPK@p.V811M 1 0.32183908 ENSG00000125755 chr19:45825230-45825230;C/T missense_variant False SYMPK@p.R180H 1 0.259259259 ENSG00000125755 chr19:45847889-45847889;C/T missense_variant False SYMPK@p.M959I 1 0.075 ENSG00000125755 chr19:45821400-45821400;C/G missense_variant False SYMPK@p.E828K 1 0.454545455 ENSG00000125755 chr19:45825179-45825179;C/T missense_variant False SYNC@p.R425Kfs*17 1 0.171428571 ENSG00000162520 chr1:32684342-32684342;C/- frameshift_variant False SYNCRIP@p.K117Nfs*20 1 0.155737705 ENSG00000271793 chr6:85640242-85640245;TCCT/- frameshift_variant False SYNDIG1@p.E153K 1 0.309392265 ENSG00000101463 chr20:24543554-24543554;G/A missense_variant False SYNDIG1@p.E155Q 1 0.085714286 ENSG00000101463 chr20:24543560-24543560;G/C missense_variant False SYNDIG1@p.E168D 1 0.170731707 ENSG00000101463 chr20:24584879-24584879;G/C missense_variant False SYNDIG1@p.G197A 1 0.466666667 ENSG00000101463 chr20:24584965-24584965;G/C missense_variant False SYNDIG1@p.I26F 1 0.057142857 ENSG00000101463 chr20:24543173-24543173;A/T missense_variant False SYNDIG1@p.S223C 1 0.637096774 ENSG00000101463 chr20:24665395-24665395;C/G missense_variant False SYNDIG1L@p.F208L 1 0.355932203 ENSG00000183379 chr14:74407628-74407628;G/C missense_variant False SYNDIG1L@p.G177S 1 0.513513514 ENSG00000183379 chr14:74407878-74407878;C/T missense_variant False SYNE1@p.A2591V 1 0.055555556 ENSG00000131018 chr6:152391509-152391509;G/A missense_variant False SYNE1@p.D116N 1 0.245283019 ENSG00000131018 chr6:152511067-152511067;C/T missense_variant False SYNE1@p.D1291H 1 0.353846154 ENSG00000131018 chr6:152442212-152442212;C/G missense_variant False SYNE1@p.D264H 1 0.242857143 ENSG00000131018 chr6:152502731-152502731;C/G missense_variant False SYNE1@p.D2929Vfs*65 1 0.468085106 ENSG00000131018 chr6:152381229-152381230;-/A frameshift_variant False SYNE1@p.D4429N 1 0.123076923 ENSG00000131018 chr6:152331400-152331400;C/T missense_variant False SYNE1@p.D5354N 1 0.115384615 ENSG00000131018 chr6:152321744-152321744;C/T missense_variant False SYMPK@p.E724K 1 0.291666667 ENSG00000125755 chr19:45827521-45827521;C/T missense_variant False SYMPK@p.E1186Q 1 0.35 ENSG00000125755 chr19:45815982-45815982;C/G missense_variant False SYCP2@p.D1477N 1 0.433333333 ENSG00000196074 chr20:59865602-59865602;C/T missense_variant False SYCP2@p.L1435S 1 0.431818182 ENSG00000196074 chr20:59866309-59866309;A/G missense_variant False SYCP2L@p.E118Q 1 0.515625 ENSG00000153157 chr6:10898026-10898026;G/C missense_variant False SYCP2L@p.D22N 1 0.173913043 ENSG00000153157 chr6:10891567-10891567;G/A missense_variant False SYCP2@p.W1083C 1 0.413793103 ENSG00000196074 chr20:59875371-59875371;C/G missense_variant False SYCP2@p.S783L 1 0.1 ENSG00000196074 chr20:59892006-59892006;G/A missense_variant False SYCP2@p.S403L 1 0.2 ENSG00000196074 chr20:59900793-59900793;G/A missense_variant False SYCP2@p.R1514C 1 0.28 ENSG00000196074 chr20:59864364-59864364;G/A missense_variant False SYCP2@p.K614R 1 0.075471698 ENSG00000196074 chr20:59892654-59892654;T/C missense_variant False SYMPK@p.E1099Q 1 0.090909091 ENSG00000125755 chr19:45816541-45816541;C/G missense_variant False SYCP2@p.K1470E 1 0.520833333 ENSG00000196074 chr20:59865623-59865623;T/C missense_variant False SYCP2@p.H1325D 1 0.318181818 ENSG00000196074 chr20:59868428-59868428;G/C missense_variant False SYCP2@p.E771K 1 0.31372549 ENSG00000196074 chr20:59892043-59892043;C/T missense_variant False SYCP2@p.E1304K 1 0.216216216 ENSG00000196074 chr20:59868491-59868491;C/T missense_variant False SYCP2@p.D274N 1 0.274509804 ENSG00000196074 chr20:59913985-59913985;C/T missense_variant False SYCP2@p.D181H 1 0.114583333 ENSG00000196074 chr20:59915523-59915523;C/G missense_variant False SYCP2L@p.E304K 1 0.064377682 ENSG00000153157 chr6:10910861-10910861;G/A missense_variant False SYCP2L@p.F806L 1 0.181818182 ENSG00000153157 chr6:10963785-10963785;C/G missense_variant False SYCP2L@p.S234C 1 0.445652174 ENSG00000153157 chr6:10907566-10907566;C/G missense_variant False SYCP2L@p.W341R 1 0.329545455 ENSG00000153157 chr6:10912876-10912876;T/C missense_variant False SYCP3@p.E124Q 1 0.112 ENSG00000139351 chr12:101733658-101733658;C/G missense_variant False SYCP3@p.E188K 1 0.378378378 ENSG00000139351 chr12:101729204-101729204;C/T missense_variant False SYDE1@p.E726Q 1 0.174242424 ENSG00000105137 chr19:15113931-15113931;G/C missense_variant False SYDE1@p.R574Afs*61 1 0.37037037 ENSG00000105137 chr19:15112485-15112485;C/- frameshift_variant False SYDE2@p.D1162V 1 0.411764706 ENSG00000097096 chr1:85158850-85158850;T/A missense_variant False SYDE2@p.Q819E 1 0.285714286 ENSG00000097096 chr1:85182187-85182187;G/C missense_variant False SYF2@p.H169Y 1 0.29787234 ENSG00000117614 chr1:25225063-25225063;G/A missense_variant False SYK@p.E230Q 1 0.230769231 ENSG00000165025 chr9:90862315-90862315;G/C missense_variant False SYK@p.G288R 1 0.093457944 ENSG00000165025 chr9:90867146-90867146;G/A missense_variant False SYK@p.I289M 1 0.460674157 ENSG00000165025 chr9:90867151-90867151;A/G missense_variant False SYK@p.R197K 1 0.421052632 ENSG00000165025 chr9:90862217-90862217;G/A missense_variant False SYK@p.R625W 1 0.127659574 ENSG00000165025 chr9:90895565-90895565;C/T missense_variant False SYK@p.Y39H 1 0.6 ENSG00000165025 chr9:90844013-90844013;T/C missense_variant False SYNJ1@p.D516N 1 0.292682927 ENSG00000159082 chr21:32678726-32678726;C/T missense_variant False SYNJ1@p.E1356Q 1 0.104166667 ENSG00000159082 chr21:32631768-32631768;C/G missense_variant False TAF1L@p.D172N 1 0.483870968 ENSG00000122728 chr9:32635066-32635066;C/T missense_variant False TAAR9@p.N68S 1 0.13253012 ENSG00000237110 chr6:132538492-132538492;A/G missense_variant False TAB2@p.G396A 1 0.181818182 ENSG00000055208 chr6:149379102-149379102;G/C missense_variant False TAB2@p.E688D 1 0.255033557 ENSG00000055208 chr6:149409701-149409701;G/C missense_variant False TAB1@p.Q141E 1 0.236363636 ENSG00000100324 chr22:39417720-39417720;C/G missense_variant False TAB1@p.E316K 1 0.267857143 ENSG00000100324 chr22:39426727-39426727;G/A missense_variant False TAB1@p.E316G 1 0.263157895 ENSG00000100324 chr22:39426728-39426728;A/G missense_variant False TAB1@p.A503S 1 0.333333333 ENSG00000100324 chr22:39430214-39430214;G/T missense_variant False TAAR9@p.F158L 1 0.382716049 ENSG00000237110 chr6:132538761-132538761;T/C missense_variant False TAB2@p.L547F 1 0.159663866 ENSG00000055208 chr6:149397639-149397639;C/T missense_variant False TAAR8@p.D173N 1 0.19924812 ENSG00000146385 chr6:132553209-132553209;G/A missense_variant False TAAR8@p.A227D 1 0.126436782 ENSG00000146385 chr6:132553372-132553372;C/A missense_variant False TAAR8@p.A101V 1 0.123076923 ENSG00000146385 chr6:132552994-132552994;C/T missense_variant False TAAR6@p.S127F 1 0.371179039 ENSG00000146383 chr6:132570701-132570701;C/T missense_variant False TAAR6@p.R248T 1 0.323529412 ENSG00000146383 chr6:132571064-132571064;G/C missense_variant False TAAR6@p.C14R 1 0.333333333 ENSG00000146383 chr6:132570361-132570361;T/C missense_variant False TAB2@p.G99V 1 0.095744681 ENSG00000055208 chr6:149378211-149378211;G/T missense_variant False TAB2@p.R335T 1 0.409638554 ENSG00000055208 chr6:149378919-149378919;G/C missense_variant False SYNJ1@p.E67_M71del 1 0.303370787 ENSG00000159082 chr21:32726800-32726814;CATGAGACATTCTTC/- inframe_deletion False TACC1@p.S401C 1 0.421052632 ENSG00000147526 chr8:38820446-38820446;C/G missense_variant False TACC2@p.E950K 1 0.26875 ENSG00000138162 chr10:122085348-122085348;G/A missense_variant False TACC2@p.E2891K 1 0.290322581 ENSG00000138162 chr10:122249554-122249554;G/A missense_variant False TACC2@p.E1003K 1 0.28 ENSG00000138162 chr10:122085507-122085507;G/A missense_variant False TACC2@p.D790N 1 0.551020408 ENSG00000138162 chr10:122084868-122084868;G/A missense_variant False TACC2@p.D1613Y 1 0.226804124 ENSG00000138162 chr10:122087337-122087337;G/T missense_variant False TACC2@p.A1564T 1 0.171428571 ENSG00000138162 chr10:122087190-122087190;G/A missense_variant False TACC1@p.S129C 1 0.384615385 ENSG00000147526 chr8:38819630-38819630;C/G missense_variant False TAB2@p.T376M 1 0.285714286 ENSG00000055208 chr6:149379042-149379042;C/T missense_variant False TACC1@p.E564K 1 0.215384615 ENSG00000147526 chr8:38831154-38831154;G/A missense_variant False TAC4@p.L76V 1 0.083333333 ENSG00000176358 chr17:49841576-49841576;G/C missense_variant False TAC1@p.D38Y 1 0.257142857 ENSG00000006128 chr7:97732724-97732724;G/T missense_variant False TAB3@p.S563C 1 0.061728395 ENSG00000157625 chrX:30852801-30852801;T/A missense_variant False TAB3@p.P282T 1 0.222222222 ENSG00000157625 chrX:30854821-30854821;G/T missense_variant False TAB3@p.P109S 1 0.837837838 ENSG00000157625 chrX:30855340-30855340;G/A missense_variant False TAAR5@p.D173H 1 0.310344828 ENSG00000135569 chr6:132589170-132589170;C/G missense_variant False TAAR2@p.F205L 1 0.183486239 ENSG00000146378 chr6:132617591-132617591;G/C missense_variant False TAAR1@p.S198Y 1 0.48 ENSG00000146399 chr6:132645411-132645411;G/T missense_variant False SYVN1@p.S415T 1 0.205882353 ENSG00000162298 chr11:65130167-65130167;A/T missense_variant False SZT2@p.E2730D 1 0.178082192 ENSG00000198198 chr1:43442857-43442857;G/C missense_variant False SZT2@p.E2633K 1 0.404255319 ENSG00000198198 chr1:43442291-43442291;G/A missense_variant False SZT2@p.E2361Q 1 0.375 ENSG00000198198 chr1:43439919-43439919;G/C missense_variant False SZT2@p.E1486Q 1 0.322580645 ENSG00000198198 chr1:43430365-43430365;G/C missense_variant False SZT2@p.D2669H 1 0.294117647 ENSG00000198198 chr1:43442472-43442472;G/C missense_variant False SZT2@p.D2463N 1 0.135802469 ENSG00000198198 chr1:43441256-43441256;G/A missense_variant False SYTL5@p.S337L 1 0.154929577 ENSG00000147041 chrX:38096182-38096182;C/T missense_variant False TAAR1@p.P275A 1 0.264705882 ENSG00000146399 chr6:132645181-132645181;G/C missense_variant False SYTL5@p.R220W 1 0.903225806 ENSG00000147041 chrX:38076670-38076670;C/T missense_variant False SYTL5@p.I74M 1 0.24137931 ENSG00000147041 chrX:38054315-38054315;C/G missense_variant False SYTL5@p.I414M 1 0.041666667 ENSG00000147041 chrX:38106679-38106679;C/G missense_variant False SYTL5@p.E242K 1 0.666666667 ENSG00000147041 chrX:38089480-38089480;G/A missense_variant False SYTL4@p.V551L 1 0.341463415 ENSG00000102362 chrX:100679320-100679320;C/G missense_variant False SYTL4@p.S235Y 1 1.0 ENSG00000102362 chrX:100690576-100690576;G/T missense_variant False SZT2@p.E3183K 1 0.444444444 ENSG00000198198 chr1:43447955-43447955;G/A missense_variant False SZT2@p.E3200K 1 0.296296296 ENSG00000198198 chr1:43448113-43448113;G/A missense_variant False SZT2@p.H1081Mfs*23 1 0.166666667 ENSG00000198198 chr1:43426741-43426741;C/- frameshift_variant False SZT2@p.L2299V 1 0.184100418 ENSG00000198198 chr1:43439622-43439622;C/G missense_variant False SZT2@p.M444I 1 0.368421053 ENSG00000198198 chr1:43420819-43420819;G/T missense_variant False SZT2@p.P523T 1 0.342105263 ENSG00000198198 chr1:43421244-43421244;C/A missense_variant False SZT2@p.Q1301R 1 0.339449541 ENSG00000198198 chr1:43428101-43428101;A/G missense_variant False SZT2@p.R1927H 1 0.101449275 ENSG00000198198 chr1:43433166-43433166;G/A missense_variant False SZT2@p.R2356Q 1 0.108433735 ENSG00000198198 chr1:43439905-43439905;G/A missense_variant False SZT2@p.R2879C 1 0.368421053 ENSG00000198198 chr1:43443606-43443606;C/T missense_variant False SZT2@p.R2887Q 1 0.225806452 ENSG00000198198 chr1:43443631-43443631;G/A missense_variant False SZT2@p.S1530L 1 0.201923077 ENSG00000198198 chr1:43430604-43430604;C/T missense_variant False SZT2@p.S2061C 1 0.186440678 ENSG00000198198 chr1:43437318-43437318;C/G missense_variant False SZT2@p.S253L 1 0.103448276 ENSG00000198198 chr1:43416087-43416087;C/T missense_variant False SZT2@p.S801I 1 0.184713376 ENSG00000198198 chr1:43424363-43424363;G/T missense_variant False SZT2@p.V2040F 1 0.192893401 ENSG00000198198 chr1:43437254-43437254;G/T missense_variant False TAAR1@p.F112L 1 0.126984127 ENSG00000146399 chr6:132645668-132645668;G/C missense_variant False TACC2@p.G1016A 1 0.586206897 ENSG00000138162 chr10:122085547-122085547;G/C missense_variant False TACC2@p.H1804Y 1 0.227272727 ENSG00000138162 chr10:122087910-122087910;C/T missense_variant False TACC2@p.P562L 1 0.341772152 ENSG00000138162 chr10:122084185-122084185;C/T missense_variant False TAF15@p.H159R 1 0.074257426 ENSG00000270647 chr17:35822825-35822825;A/G missense_variant False TAF1@p.D1678H 1 0.185185185 ENSG00000147133 chrX:71459582-71459582;G/C missense_variant False TAF1@p.D1519N 1 0.422222222 ENSG00000147133 chrX:71424016-71424016;G/A missense_variant False TAF1@p.D1483N 1 0.430769231 ENSG00000147133 chrX:71423174-71423174;G/A missense_variant False TAF15@p.R562Q 1 0.308724832 ENSG00000270647 chr17:35844984-35844984;G/A missense_variant False TAF15@p.N377D 1 0.361111111 ENSG00000270647 chr17:35844320-35844320;A/G missense_variant False TAF15@p.L273V 1 0.317307692 ENSG00000270647 chr17:35838457-35838457;C/G missense_variant False TAF15@p.F253L 1 0.14893617 ENSG00000270647 chr17:35836217-35836217;C/G missense_variant False TADA3@p.E390K 1 0.222222222 ENSG00000171148 chr3:9780488-9780488;C/T missense_variant False TAF15@p.D106N 1 0.542857143 ENSG00000270647 chr17:35822665-35822665;G/A missense_variant False TAF13@p.R28I 1 0.397260274 ENSG00000197780 chr1:109075010-109075010;C/A missense_variant False TAF12@p.R122H 1 0.15 ENSG00000120656 chr1:28605457-28605457;C/T missense_variant False TAF12@p.E134K 1 0.272727273 ENSG00000120656 chr1:28605422-28605422;C/T missense_variant False TAF11@p.S9C 1 0.136 ENSG00000064995 chr6:34887932-34887932;G/C missense_variant False TAF11@p.E50K 1 0.467592593 ENSG00000064995 chr6:34887810-34887810;C/T missense_variant False TAF1@p.E380K 1 0.813186813 ENSG00000147133 chrX:71378872-71378872;G/A missense_variant False TAF1@p.F1489L 1 0.763636364 ENSG00000147133 chrX:71423194-71423194;C/A missense_variant False TAF1@p.R801Q 1 0.560386473 ENSG00000147133 chrX:71388274-71388274;G/A missense_variant False TAF1@p.S1436G 1 0.795454545 ENSG00000147133 chrX:71408136-71408136;A/G missense_variant False TAF1@p.V1823I 1 0.266666667 ENSG00000147133 chrX:71463954-71463954;G/A missense_variant False TAF1@p.Y1262C 1 0.882352941 ENSG00000147133 chrX:71401589-71401589;A/G missense_variant False TAF1A@p.M436I 1 0.166666667 ENSG00000143498 chr1:222558705-222558705;C/T missense_variant False TAF1B@p.E136K 1 0.595744681 ENSG00000115750 chr2:9868282-9868282;G/A missense_variant False TAF1B@p.E149K 1 0.305882353 ENSG00000115750 chr2:9868321-9868321;G/A missense_variant False TAF1B@p.R292C 1 0.098360656 ENSG00000115750 chr2:9904925-9904925;C/T missense_variant False TAF1C@p.P417L 1 0.463414634 ENSG00000103168 chr16:84181179-84181179;G/A missense_variant False TAF1C@p.S809L 1 0.55 ENSG00000103168 chr16:84179125-84179125;G/A missense_variant False TAF1C@p.T565I 1 0.102564103 ENSG00000103168 chr16:84179951-84179951;G/A missense_variant False TAF1L@p.A614T 1 0.311320755 ENSG00000122728 chr9:32633740-32633740;C/T missense_variant False TAF1L@p.D146N 1 0.183333333 ENSG00000122728 chr9:32635144-32635144;C/T missense_variant False TAF1L@p.D1521N 1 0.322580645 ENSG00000122728 chr9:32631019-32631019;C/T missense_variant False TAF1L@p.D1543H 1 0.13559322 ENSG00000122728 chr9:32630953-32630953;C/G missense_variant False TAF11@p.E20K 1 0.323699422 ENSG00000064995 chr6:34887900-34887900;C/T missense_variant False TADA2B@p.G57R 1 0.428571429 ENSG00000173011 chr4:7043748-7043748;G/A missense_variant False TACC2@p.P852L 1 0.213414634 ENSG00000138162 chr10:122085055-122085055;C/T missense_variant False TACC2@p.S962W 1 0.3 ENSG00000138162 chr10:122085385-122085385;C/G missense_variant False TACC3@p.S71C 1 0.382352941 ENSG00000013810 chr4:1723776-1723776;A/T missense_variant False TACC3@p.L554F 1 0.640522876 ENSG00000013810 chr4:1735748-1735748;G/T missense_variant False TACC3@p.E734K 1 0.375 ENSG00000013810 chr4:1740963-1740963;G/A missense_variant False TACC3@p.E522Q 1 0.333333333 ENSG00000013810 chr4:1731274-1731274;G/C missense_variant False TACC3@p.D86N 1 0.409090909 ENSG00000013810 chr4:1723821-1723821;G/A missense_variant False TACC3@p.D829N 1 0.945652174 ENSG00000013810 chr4:1744981-1744981;G/A missense_variant False TACC2@p.S1913L 1 0.203703704 ENSG00000138162 chr10:122143610-122143610;C/T missense_variant False TADA2B@p.A159S 1 0.25 ENSG00000173011 chr4:7054266-7054266;G/T missense_variant False TACC2@p.S1381F 1 0.352941176 ENSG00000138162 chr10:122086642-122086642;C/T missense_variant False TACC2@p.S1358N 1 0.580645161 ENSG00000138162 chr10:122086573-122086573;G/A missense_variant False TACC2@p.R2597Q 1 0.1875 ENSG00000138162 chr10:122227902-122227902;G/A missense_variant False TACC2@p.R1661T 1 0.224489796 ENSG00000138162 chr10:122087482-122087482;G/C missense_variant False TACC2@p.Q783Rfs*32 1 0.103092784 ENSG00000138162 chr10:122084841-122084841;C/- frameshift_variant False TACC2@p.Q2479H 1 0.187165775 ENSG00000138162 chr10:122216719-122216719;G/C missense_variant False TACC3@p.S787Pfs*30 1 0.2 ENSG00000013810 chr4:1744738-1744745;GGAGCAAG/- frameshift_variant False TACO1@p.V201A 1 0.147058824 ENSG00000136463 chr17:63607373-63607373;T/C missense_variant False TACR1@p.G220E 1 0.137254902 ENSG00000115353 chr2:75053681-75053681;C/T missense_variant False TACR1@p.G230R 1 0.566666667 ENSG00000115353 chr2:75053652-75053652;C/T missense_variant False TACR2@p.V7A 1 0.37037037 ENSG00000075073 chr10:69416304-69416304;A/G missense_variant False TACR3@p.C158R 1 0.1875 ENSG00000169836 chr4:103719204-103719204;A/G missense_variant False TACR3@p.E384K 1 0.457627119 ENSG00000169836 chr4:103589930-103589930;C/T missense_variant False TACR3@p.N162K 1 0.14 ENSG00000169836 chr4:103719190-103719190;G/T missense_variant False TACR3@p.S27L 1 0.116666667 ENSG00000169836 chr4:103719596-103719596;G/A missense_variant False TACSTD2@p.D221Y 1 0.304347826 ENSG00000184292 chr1:58576496-58576496;C/A missense_variant False TACSTD2@p.R245H 1 0.2 ENSG00000184292 chr1:58576423-58576423;C/T missense_variant False TADA2A@p.D195N 1 0.339393939 ENSG00000276234 chr17:37444747-37444747;G/A missense_variant False TADA2A@p.E194K 1 0.144876325 ENSG00000276234 chr17:37444744-37444744;G/A missense_variant False TADA2A@p.E194Q 1 0.1 ENSG00000276234 chr17:37444744-37444744;G/C missense_variant False TADA2A@p.E33Q 1 0.307692308 ENSG00000276234 chr17:37423580-37423580;G/C missense_variant False TADA2A@p.I224Lfs*2 1 0.333333333 ENSG00000276234 chr17:37458582-37458582;A/- frameshift_variant False TADA2A@p.I435M 1 0.30952381 ENSG00000276234 chr17:37476955-37476955;C/G missense_variant False SYTL3@p.R464K 1 0.305084746 ENSG00000164674 chr6:158760722-158760722;G/A missense_variant False SYTL3@p.Q475E 1 0.259259259 ENSG00000164674 chr6:158762084-158762084;C/G missense_variant False SYTL3@p.N448T 1 0.223404255 ENSG00000164674 chr6:158760674-158760674;A/C missense_variant False SYNPO2L@p.R424G 1 0.375 ENSG00000166317 chr10:73648382-73648382;G/C missense_variant False SYNRG@p.E122K 1 0.174603175 ENSG00000275066 chr17:37586426-37586426;C/T missense_variant False SYNRG@p.D775Y 1 0.382022472 ENSG00000275066 chr17:37553400-37553400;C/A missense_variant False SYNPR@p.S212L 1 0.176470588 ENSG00000163630 chr3:63615318-63615318;C/T missense_variant False SYNPR@p.L71F 1 0.351351351 ENSG00000163630 chr3:63556606-63556606;G/C missense_variant False SYNPO@p.I821L 1 0.481751825 ENSG00000171992 chr5:150650004-150650004;A/C missense_variant False SYNPO2L@p.R785W 1 0.628099174 ENSG00000166317 chr10:73647299-73647299;G/A missense_variant False SYNPO2L@p.P711A 1 0.198979592 ENSG00000166317 chr10:73647521-73647521;G/C missense_variant False SYNPO2@p.P652L 1 0.53125 ENSG00000172403 chr4:119030730-119030730;C/T missense_variant False SYNPO2L@p.L677V 1 0.224806202 ENSG00000166317 chr10:73647623-73647623;G/C missense_variant False SYNPO2L@p.G973Rfs*120 1 0.239361702 ENSG00000166317 chr10:73646731-73646735;GCCCC/- frameshift_variant False SYNPO2L@p.E673K 1 0.275280899 ENSG00000166317 chr10:73647635-73647635;C/T missense_variant False SYNPO2L@p.A875V 1 0.390804598 ENSG00000166317 chr10:73647028-73647028;G/A missense_variant False SYNPO2@p.S310C 1 0.215686275 ENSG00000172403 chr4:119027298-119027298;C/G missense_variant False SYNPO2@p.S1035C 1 0.168831169 ENSG00000172403 chr4:119031879-119031879;C/G missense_variant False SYNRG@p.K587N 1 0.717948718 ENSG00000275066 chr17:37553962-37553962;T/A missense_variant False SYNRG@p.L1252F 1 0.264705882 ENSG00000275066 chr17:37520559-37520559;C/A missense_variant False SYNRG@p.Q286E 1 0.139534884 ENSG00000275066 chr17:37576386-37576386;G/C missense_variant False SYNRG@p.R141C 1 0.425373134 ENSG00000275066 chr17:37585381-37585381;G/A missense_variant False SYP@p.D83N 1 0.244897959 ENSG00000102003 chrX:49194342-49194342;C/T missense_variant False SYP@p.R88Q 1 0.511111111 ENSG00000102003 chrX:49194326-49194326;C/T missense_variant False SYPL1@p.E235D 1 0.461538462 ENSG00000008282 chr7:106091880-106091880;C/A missense_variant False SYPL1@p.M222I 1 0.276595745 ENSG00000008282 chr7:106091919-106091919;C/G missense_variant False SYPL1@p.N63I 1 0.281690141 ENSG00000008282 chr7:106099218-106099218;T/A missense_variant False SYPL2@p.I123M 1 0.333333333 ENSG00000143028 chr1:109476890-109476890;C/G missense_variant False SYPL2@p.M63L 1 0.15 ENSG00000143028 chr1:109475638-109475638;A/T missense_variant False SYPL2@p.S75F 1 0.205128205 ENSG00000143028 chr1:109475675-109475675;C/T missense_variant False SYS1@p.P152S 1 0.28358209 ENSG00000204070 chr20:45367098-45367098;C/T missense_variant False SYS1@p.P61S 1 0.33976834 ENSG00000204070 chr20:45365637-45365637;C/T missense_variant False SYT10@p.E150Q 1 0.098445596 ENSG00000110975 chr12:33426199-33426199;C/G missense_variant False SYT10@p.E164K 1 0.626373626 ENSG00000110975 chr12:33426157-33426157;C/T missense_variant False SYT10@p.E244D 1 0.333333333 ENSG00000110975 chr12:33407134-33407134;T/G missense_variant False SYNPO2@p.R1227G 1 0.797101449 ENSG00000172403 chr4:119057827-119057827;A/G missense_variant False SYNPO2@p.M1002I 1 0.436893204 ENSG00000172403 chr4:119031781-119031781;G/T missense_variant False SYT10@p.W481C 1 0.346456693 ENSG00000110975 chr12:33379889-33379889;C/G missense_variant False SYNJ1@p.R588C 1 0.4375 ENSG00000159082 chr21:32673421-32673421;G/A missense_variant False SYNJ2@p.S562L 1 0.4 ENSG00000078269 chr6:158066603-158066603;C/T missense_variant False SYNJ2@p.L1328V 1 0.507936508 ENSG00000078269 chr6:158095855-158095855;C/G missense_variant False SYNJ2@p.L107F 1 0.583333333 ENSG00000078269 chr6:158028860-158028860;C/T missense_variant False SYNJ2@p.H436Q 1 0.551886792 ENSG00000078269 chr6:158064699-158064699;C/A missense_variant False SYNJ2@p.E1462K 1 0.411764706 ENSG00000078269 chr6:158096257-158096257;G/A missense_variant False SYNJ2@p.D828H 1 0.170542636 ENSG00000078269 chr6:158078196-158078196;G/C missense_variant False SYNJ1@p.Q802H 1 0.168067227 ENSG00000159082 chr21:32664928-32664928;C/G missense_variant False SYNPO2@p.K956N 1 0.3 ENSG00000172403 chr4:119031643-119031643;G/C missense_variant False SYNJ1@p.Q1283E 1 0.222222222 ENSG00000159082 chr21:32639093-32639093;G/C missense_variant False SYNJ1@p.N504S 1 0.618181818 ENSG00000159082 chr21:32678761-32678761;T/C missense_variant False SYNJ1@p.N430S 1 0.264150943 ENSG00000159082 chr21:32684066-32684066;T/C missense_variant False SYNJ1@p.L1584V 1 0.241935484 ENSG00000159082 chr21:32631084-32631084;G/C missense_variant False SYNJ1@p.L1065F 1 0.080645161 ENSG00000159082 chr21:32646564-32646564;G/A missense_variant False SYNJ1@p.G1453R 1 0.179487179 ENSG00000159082 chr21:32631477-32631477;C/T missense_variant False SYNJ2BP@p.E13K 1 0.150793651 ENSG00000213463 chr14:70416927-70416927;C/T missense_variant False SYNJ2BP@p.K74N 1 0.449152542 ENSG00000213463 chr14:70375751-70375751;C/A missense_variant False SYNM@p.A373V 1 0.131782946 ENSG00000182253 chr15:99129478-99129478;C/T missense_variant False SYNM@p.E1437D 1 0.427536232 ENSG00000182253 chr15:99132671-99132671;G/T missense_variant False SYNM@p.F618L 1 0.5 ENSG00000182253 chr15:99130214-99130214;C/G missense_variant False SYNM@p.G1055R 1 0.380952381 ENSG00000182253 chr15:99131523-99131523;G/A missense_variant False SYNM@p.L496V 1 0.107142857 ENSG00000182253 chr15:99129846-99129846;C/G missense_variant False SYNM@p.S471L 1 0.363636364 ENSG00000182253 chr15:99129772-99129772;C/T missense_variant False SYNPO2@p.D289Y 1 0.333333333 ENSG00000172403 chr4:119027234-119027234;G/T missense_variant False SYNPO2@p.E139K 1 0.133333333 ENSG00000172403 chr4:119026784-119026784;G/A missense_variant False SYNPO2@p.E248Q 1 0.6875 ENSG00000172403 chr4:119027111-119027111;G/C missense_variant False SYNPO2@p.E420D 1 0.160493827 ENSG00000172403 chr4:119030035-119030035;G/T missense_variant False SYNPO2@p.E540Q 1 0.495495495 ENSG00000172403 chr4:119030393-119030393;G/C missense_variant False SYNPO2@p.E98K 1 0.282828283 ENSG00000172403 chr4:119026661-119026661;G/A missense_variant False SYNPO2@p.G13V 1 0.139240506 ENSG00000172403 chr4:118889074-118889074;G/T missense_variant False SYNPO2@p.H235Q 1 0.413793103 ENSG00000172403 chr4:119027074-119027074;T/G missense_variant False SYNPO2@p.K952N 1 0.16 ENSG00000172403 chr4:119031631-119031631;G/C missense_variant False SYT10@p.Q183K 1 0.44 ENSG00000110975 chr12:33407319-33407319;G/T missense_variant False SYT11@p.D250H 1 0.17721519 ENSG00000132718 chr1:155868678-155868678;G/C missense_variant False SYTL3@p.M562I 1 0.121495327 ENSG00000164674 chr6:158763472-158763472;G/T missense_variant False SYT8@p.R295K 1 0.18 ENSG00000149043 chr11:1837008-1837008;G/A missense_variant False SYTL2@p.A127T 1 0.294915254 ENSG00000137501 chr11:85745647-85745647;C/T missense_variant False SYTL1@p.M106T 1 0.089285714 ENSG00000142765 chr1:27347546-27347546;T/C missense_variant False SYTL1@p.E533del 1 0.282051282 ENSG00000142765 chr1:27353757-27353759;GAG/- inframe_deletion False SYTL1@p.E171K 1 0.266666667 ENSG00000142765 chr1:27349131-27349131;G/A missense_variant False SYT9@p.E355D 1 0.257575758 ENSG00000170743 chr11:7416062-7416062;G/C missense_variant False SYT9@p.D311H 1 0.318181818 ENSG00000170743 chr11:7313828-7313828;G/C missense_variant False SYT8@p.I52L 1 0.313253012 ENSG00000149043 chr11:1835313-1835313;A/C missense_variant False SYT4@p.T6A 1 0.214285714 ENSG00000132872 chr18:43277266-43277266;T/C missense_variant False SYT7@p.Y49C 1 0.156626506 ENSG00000011347 chr11:61551453-61551453;T/C missense_variant False SYT7@p.R267Q 1 0.067226891 ENSG00000011347 chr11:61523934-61523934;C/T missense_variant False SYT5@p.R159W 1 0.170731707 ENSG00000129990 chr19:55175774-55175774;G/A missense_variant False SYT5@p.L37M 1 0.625 ENSG00000129990 chr19:55178339-55178339;G/T missense_variant False SYT5@p.I243M 1 0.688073394 ENSG00000129990 chr19:55174979-55174979;G/C missense_variant False SYT5@p.G134A 1 0.442622951 ENSG00000129990 chr19:55175848-55175848;C/G missense_variant False SYTL2@p.E122K 1 0.301204819 ENSG00000137501 chr11:85745662-85745662;C/T missense_variant False SYTL2@p.K787N 1 0.5 ENSG00000137501 chr11:85698071-85698071;C/G missense_variant False SYTL2@p.L599F 1 0.089655172 ENSG00000137501 chr11:85711148-85711148;G/A missense_variant False SYTL2@p.Q475E 1 0.347826087 ENSG00000137501 chr11:85727932-85727932;G/C missense_variant False SYTL2@p.S198L 1 0.50877193 ENSG00000137501 chr11:85734733-85734733;G/A missense_variant False SYTL2@p.S217L 1 0.345794393 ENSG00000137501 chr11:85734676-85734676;G/A missense_variant False SYTL2@p.S325C 1 0.309090909 ENSG00000137501 chr11:85734352-85734352;G/C missense_variant False SYTL2@p.S325F 1 0.227272727 ENSG00000137501 chr11:85734352-85734352;G/A missense_variant False SYTL2@p.S481C 1 0.172413793 ENSG00000137501 chr11:85727913-85727913;G/C missense_variant False SYTL3@p.D292H 1 0.266666667 ENSG00000164674 chr6:158745498-158745498;G/C missense_variant False SYTL3@p.D497H 1 0.170731707 ENSG00000164674 chr6:158762150-158762150;G/C missense_variant False SYTL3@p.G573A 1 0.125 ENSG00000164674 chr6:158763504-158763504;G/C missense_variant False SYTL3@p.G573S 1 0.395348837 ENSG00000164674 chr6:158763503-158763503;G/A missense_variant False SYTL3@p.K115E 1 0.324324324 ENSG00000164674 chr6:158682938-158682938;A/G missense_variant False SYTL3@p.K127T 1 0.30952381 ENSG00000164674 chr6:158682975-158682975;A/C missense_variant False SYTL3@p.K339N 1 0.181818182 ENSG00000164674 chr6:158745641-158745641;G/C missense_variant False SYTL3@p.L408F 1 0.230769231 ENSG00000164674 chr6:158757295-158757295;C/T missense_variant False SYT5@p.F312L 1 0.099009901 ENSG00000129990 chr19:55174541-55174541;G/C missense_variant False SYT4@p.S320C 1 0.115702479 ENSG00000132872 chr18:43271723-43271723;G/C missense_variant False SYT11@p.E3D 1 0.255952381 ENSG00000132718 chr1:155859770-155859770;G/C missense_variant False SYT16@p.E263G 1 0.708333333 ENSG00000139973 chr14:62075186-62075186;A/G missense_variant False SYT1@p.E140K 1 0.153846154 ENSG00000067715 chr12:79292074-79292074;G/A missense_variant False SYT1@p.D415N 1 0.130434783 ENSG00000067715 chr12:79449098-79449098;G/A missense_variant False SYT1@p.D364_Y365insN 1 0.177570093 ENSG00000067715 chr12:79448945-79448946;-/ACA inframe_insertion False SYT1@p.D122N 1 0.065217391 ENSG00000067715 chr12:79292020-79292020;G/A missense_variant False SYT16@p.S139C 1 0.238993711 ENSG00000139973 chr14:61996435-61996435;C/G missense_variant False SYT16@p.R297G 1 0.227272727 ENSG00000139973 chr14:62075287-62075287;A/G missense_variant False SYT16@p.A421P 1 0.535714286 ENSG00000139973 chr14:62081101-62081101;G/C missense_variant False SYT4@p.R312G 1 0.153846154 ENSG00000132872 chr18:43271748-43271748;G/C missense_variant False SYT14@p.Q544L 1 0.363636364 ENSG00000143469 chr1:210161005-210161005;A/T missense_variant False SYT14@p.Q317H 1 0.25 ENSG00000143469 chr1:210100248-210100248;G/C missense_variant False SYT14@p.F489L 1 0.212328767 ENSG00000143469 chr1:210160841-210160841;T/A missense_variant False SYT14@p.A446E 1 0.271604938 ENSG00000143469 chr1:210155893-210155893;C/A missense_variant False SYT12@p.E374K 1 0.313432836 ENSG00000173227 chr11:67048611-67048611;G/A missense_variant False SYT12@p.D218N 1 0.168067227 ENSG00000173227 chr11:67043668-67043668;G/A missense_variant False SYT1@p.K326N 1 0.175 ENSG00000067715 chr12:79444122-79444122;G/T missense_variant False SYT1@p.S41Y 1 0.387096774 ENSG00000067715 chr12:79217641-79217641;C/A missense_variant False SYT2@p.A393T 1 0.176470588 ENSG00000143858 chr1:202596840-202596840;C/T missense_variant False SYT2@p.E126K 1 0.172839506 ENSG00000143858 chr1:202603088-202603088;C/T missense_variant False SYT2@p.K48R 1 0.291666667 ENSG00000143858 chr1:202605630-202605630;T/C missense_variant False SYT2@p.S340T 1 0.08045977 ENSG00000143858 chr1:202599253-202599253;A/T missense_variant False SYT2@p.Y309C 1 0.258992806 ENSG00000143858 chr1:202599345-202599345;T/C missense_variant False SYT3@p.D48H 1 0.285714286 ENSG00000213023 chr19:50637270-50637270;C/G missense_variant False SYT3@p.G192E 1 0.170212766 ENSG00000213023 chr19:50632385-50632385;C/T missense_variant False SYT3@p.N436S 1 0.368421053 ENSG00000213023 chr19:50625992-50625992;T/C missense_variant False SYT3@p.R485W 1 0.285714286 ENSG00000213023 chr19:50625514-50625514;G/A missense_variant False SYT3@p.S57L 1 0.266055046 ENSG00000213023 chr19:50632790-50632790;G/A missense_variant False SYT4@p.G263R 1 0.435483871 ENSG00000132872 chr18:43273642-43273642;C/T missense_variant False SYT4@p.H344D 1 0.173913043 ENSG00000132872 chr18:43270589-43270589;G/C missense_variant False SYT4@p.P217Qfs*27 1 0.263888889 ENSG00000132872 chr18:43273779-43273779;G/- frameshift_variant False SYT4@p.Q298K 1 0.138157895 ENSG00000132872 chr18:43271790-43271790;G/T missense_variant False SYT4@p.R167T 1 0.160493827 ENSG00000132872 chr18:43273929-43273929;C/G missense_variant False MIB1@p.E33K 1 0.4 ENSG00000101752 chr18:21741680-21741680;G/A missense_variant False METTL14@p.H306Y 1 0.775280899 ENSG00000145388 chr4:118705671-118705671;C/T missense_variant False MIA@p.G21S 1 0.040322581 ENSG00000261857 chr19:40775603-40775603;G/A missense_variant False CLASP1@p.L951V 1 0.059027778 ENSG00000074054 chr2:121401558-121401558;A/C missense_variant False CLASP1@p.Y30C 1 0.14084507 ENSG00000074054 chr2:121605807-121605807;T/C missense_variant False CLASP1@p.S714L 1 0.293103448 ENSG00000074054 chr2:121425210-121425210;G/A missense_variant False CLASP1@p.S579C 1 0.181818182 ENSG00000074054 chr2:121448281-121448281;G/C missense_variant False CLASP1@p.S1530F 1 0.325 ENSG00000074054 chr2:121340889-121340889;G/A missense_variant False CLASP1@p.R461T 1 0.196721311 ENSG00000074054 chr2:121457690-121457690;C/G missense_variant False CLASP1@p.Q1044H 1 0.170731707 ENSG00000074054 chr2:121387898-121387898;C/A missense_variant False CLASP1@p.K402T 1 0.460176991 ENSG00000074054 chr2:121458949-121458949;T/G missense_variant False CLASP2@p.D844N 1 0.264069264 ENSG00000163539 chr3:33573306-33573306;C/T missense_variant False CLASP1@p.E505K 1 0.226190476 ENSG00000074054 chr2:121450923-121450923;C/T missense_variant False CLASP1@p.A1006S 1 0.181818182 ENSG00000074054 chr2:121397247-121397247;C/A missense_variant False CKS2@p.W54C 1 0.285714286 ENSG00000123975 chr9:89315272-89315272;G/T missense_variant False CKS2@p.R44S 1 0.28125 ENSG00000123975 chr9:89315242-89315242;G/C missense_variant False CKS2@p.Q50H 1 0.396694215 ENSG00000123975 chr9:89315260-89315260;G/C missense_variant False CKS2@p.P25L 1 0.215909091 ENSG00000123975 chr9:89315184-89315184;C/T missense_variant False CLASP2@p.D844H 1 0.360465116 ENSG00000163539 chr3:33573306-33573306;C/G missense_variant False CLASP2@p.D844Y 1 0.25 ENSG00000163539 chr3:33573306-33573306;C/A missense_variant False CLDN16@p.A69E 1 0.424242424 ENSG00000113946 chr3:190402428-190402428;C/A missense_variant False CLASP2@p.T1434S 1 0.121212121 ENSG00000163539 chr3:33510602-33510602;T/A missense_variant False CLCA1@p.A914T 1 0.428571429 ENSG00000016490 chr1:86500040-86500040;G/A missense_variant False CLC@p.D129E 1 0.076115486 ENSG00000105205 chr19:39731422-39731422;A/T missense_variant False CLBA1@p.R25Q 1 0.244444444 ENSG00000140104 chr14:104986505-104986505;G/A missense_variant False CLBA1@p.L12F 1 0.571428571 ENSG00000140104 chr14:104986467-104986467;G/C missense_variant False CLASRP@p.R46Q 1 0.417910448 ENSG00000104859 chr19:45052108-45052108;G/A missense_variant False CLASRP@p.E247K 1 0.076923077 ENSG00000104859 chr19:45060417-45060417;G/A missense_variant False CLASP2@p.S842L 1 0.107526882 ENSG00000163539 chr3:33573311-33573311;G/A missense_variant False CLASP2@p.E1293Q 1 0.298245614 ENSG00000163539 chr3:33517112-33517112;C/G missense_variant False CLASP2@p.R727G 1 0.436619718 ENSG00000163539 chr3:33584813-33584813;T/C missense_variant False CLASP2@p.R603Q 1 0.666666667 ENSG00000163539 chr3:33603071-33603071;C/T missense_variant False CLASP2@p.P867S 1 0.343096234 ENSG00000163539 chr3:33573237-33573237;G/A missense_variant False CLASP2@p.M218I 1 0.25 ENSG00000163539 chr3:33663506-33663506;C/G missense_variant False CLASP2@p.E912K 1 0.4 ENSG00000163539 chr3:33570783-33570783;C/T missense_variant False CLASP2@p.E1319K 1 0.234042553 ENSG00000163539 chr3:33517034-33517034;C/T missense_variant False CKMT2@p.V391G 1 0.116883117 ENSG00000131730 chr5:81266170-81266170;T/G missense_variant False CKMT2@p.N83T 1 0.333333333 ENSG00000131730 chr5:81252790-81252790;A/C missense_variant False CKMT2@p.I91M 1 0.282828283 ENSG00000131730 chr5:81252815-81252815;C/G missense_variant False CKAP5@p.E298Q 1 0.138095238 ENSG00000175216 chr11:46808117-46808117;C/G missense_variant False CKAP5@p.S1428C 1 0.183098592 ENSG00000175216 chr11:46760723-46760723;G/C missense_variant False CKAP5@p.S1409F 1 0.680851064 ENSG00000175216 chr11:46760780-46760780;G/A missense_variant False CKAP5@p.R1956Q 1 0.422535211 ENSG00000175216 chr11:46744255-46744255;C/T missense_variant False CKAP5@p.R1885G 1 0.204545455 ENSG00000175216 chr11:46750325-46750325;G/C missense_variant False CKAP5@p.K511N 1 0.402597403 ENSG00000175216 chr11:46795711-46795711;C/A missense_variant False CKAP5@p.E797K 1 0.1875 ENSG00000175216 chr11:46780238-46780238;C/T missense_variant False CKAP5@p.D806H 1 0.15 ENSG00000175216 chr11:46780211-46780211;C/G missense_variant False CKMT2@p.G324R 1 0.419354839 ENSG00000131730 chr5:81259210-81259210;G/A missense_variant False CKAP5@p.A1386T 1 0.230769231 ENSG00000175216 chr11:46762065-46762065;C/T missense_variant False CKAP5@p.A1041V 1 0.308943089 ENSG00000175216 chr11:46770852-46770852;G/A missense_variant False CKAP4@p.S542L 1 0.064516129 ENSG00000136026 chr12:106239208-106239208;G/A missense_variant False CKAP4@p.Q166E 1 0.134969325 ENSG00000136026 chr12:106240337-106240337;G/C missense_variant False CKAP4@p.E295K 1 0.291338583 ENSG00000136026 chr12:106239950-106239950;C/T missense_variant False CKAP2L@p.L714F 1 0.13592233 ENSG00000169607 chr2:112738921-112738921;G/A missense_variant False CKAP5@p.S678L 1 0.116438356 ENSG00000175216 chr11:46784609-46784609;G/A missense_variant False CKB@p.D335N 1 0.578947368 ENSG00000166165 chr14:103520007-103520007;C/T missense_variant False CKB@p.E368K 1 0.166666667 ENSG00000166165 chr14:103519908-103519908;C/T missense_variant False CKB@p.H276Y 1 0.376811594 ENSG00000166165 chr14:103520263-103520263;G/A missense_variant False CKM@p.H234Y 1 0.212765957 ENSG00000104879 chr19:45308486-45308486;G/A missense_variant False CKM@p.Q258H 1 0.3125 ENSG00000104879 chr19:45308412-45308412;C/A missense_variant False CKM@p.R148L 1 0.448275862 ENSG00000104879 chr19:45315503-45315503;C/A missense_variant False CKM@p.R252H 1 0.333333333 ENSG00000104879 chr19:45308431-45308431;C/T missense_variant False CKM@p.S158F 1 0.121212121 ENSG00000104879 chr19:45315473-45315473;G/A missense_variant False CKMT1B@p.G327A 1 0.27027027 ENSG00000237289 chr15:43598296-43598296;G/C missense_variant False CKMT1B@p.I271T 1 0.181818182 ENSG00000237289 chr15:43596467-43596467;T/C missense_variant False CKMT1B@p.M279I 1 0.1875 ENSG00000237289 chr15:43596492-43596492;G/A missense_variant False CKMT2@p.A74T 1 0.513513514 ENSG00000131730 chr5:81252762-81252762;G/A missense_variant False CKMT2@p.D389N 1 0.083333333 ENSG00000131730 chr5:81266163-81266163;G/A missense_variant False CKMT2@p.E189Q 1 0.142857143 ENSG00000131730 chr5:81255110-81255110;G/C missense_variant False CKMT2@p.E300Q 1 0.166666667 ENSG00000131730 chr5:81259138-81259138;G/C missense_variant False CKMT2@p.E66Q 1 0.321428571 ENSG00000131730 chr5:81252738-81252738;G/C missense_variant False CLCA1@p.G680E 1 0.113636364 ENSG00000016490 chr1:86495601-86495601;G/A missense_variant False CLCA1@p.I614V 1 0.28 ENSG00000016490 chr1:86494346-86494346;A/G missense_variant False CLCA1@p.L797I 1 0.5 ENSG00000016490 chr1:86499689-86499689;C/A missense_variant False CLCN6@p.E701D 1 0.304347826 ENSG00000011021 chr1:11837121-11837121;G/C missense_variant False CLCNKA@p.I589N 1 0.301886792 ENSG00000186510 chr1:16032212-16032212;T/A missense_variant False CLCNKA@p.G424R 1 0.119791667 ENSG00000186510 chr1:16029773-16029773;G/A missense_variant False CLCNKA@p.E490Q 1 0.12195122 ENSG00000186510 chr1:16030520-16030520;G/C missense_variant False CLCN7@p.G57A 1 0.291666667 ENSG00000103249 chr16:1465310-1465310;C/G missense_variant False CLCN6@p.Q36R 1 0.638297872 ENSG00000011021 chr1:11807150-11807150;A/G missense_variant False CLCN6@p.F460L 1 0.519230769 ENSG00000011021 chr1:11833884-11833884;C/G missense_variant False CLCN6@p.D729H 1 0.290697674 ENSG00000011021 chr1:11837389-11837389;G/C missense_variant False CLCN4@p.E679K 1 0.769230769 ENSG00000073464 chrX:10220720-10220720;G/A missense_variant False CLCN5@p.Y136C 1 0.444444444 ENSG00000171365 chrX:50080607-50080607;A/G missense_variant False CLCN5@p.T44I 1 0.144736842 ENSG00000171365 chrX:50072514-50072514;C/T missense_variant False CLCN5@p.T367S 1 0.217391304 ENSG00000171365 chrX:50086623-50086623;C/G missense_variant False CLCN5@p.R280H 1 0.483870968 ENSG00000171365 chrX:50086362-50086362;G/A missense_variant False CLCN5@p.M448I 1 0.166666667 ENSG00000171365 chrX:50086867-50086867;G/T missense_variant False CLCN4@p.S63I 1 0.955823293 ENSG00000073464 chrX:10187558-10187558;G/T missense_variant False CLCNKA@p.M551I 1 0.425531915 ENSG00000186510 chr1:16031740-16031740;G/A missense_variant False CLCNKA@p.M67I 1 0.103703704 ENSG00000186510 chr1:16023900-16023900;G/C missense_variant False CLCNKA@p.S232Y 1 0.925925926 ENSG00000186510 chr1:16027349-16027349;C/A missense_variant False CLCNKB@p.E225K 1 0.174418605 ENSG00000184908 chr1:16049137-16049137;G/A missense_variant False CLCNKB@p.E649Q 1 0.291666667 ENSG00000184908 chr1:16056437-16056437;G/C missense_variant False CLCNKB@p.H480Y 1 0.064516129 ENSG00000184908 chr1:16052227-16052227;C/T missense_variant False CLCNKB@p.L564R 1 0.142857143 ENSG00000184908 chr1:16053707-16053707;T/G missense_variant False CLCNKB@p.S232C 1 0.275229358 ENSG00000184908 chr1:16049159-16049159;C/G missense_variant False CLCNKB@p.S445Y 1 0.433121019 ENSG00000184908 chr1:16051746-16051746;C/A missense_variant False CLDN10@p.S58Y 1 0.404761905 ENSG00000134873 chr13:95434006-95434006;C/A missense_variant False CLDN10@p.W50Pfs*29 1 0.292 ENSG00000134873 chr13:95552899-95552914;TGTGGAAGGCGTGCGT/- frameshift_variant False CLDN11@p.G161D 1 0.085106383 ENSG00000013297 chr3:170432614-170432614;G/A missense_variant False CLDN12@p.G137E 1 0.231213873 ENSG00000157224 chr7:90413086-90413086;G/A missense_variant False CLDN12@p.S170L 1 0.122905028 ENSG00000157224 chr7:90413185-90413185;C/T missense_variant False CLDN14@p.A222T 1 0.490566038 ENSG00000159261 chr21:36461032-36461032;C/T missense_variant False CLDN14@p.V144L 1 0.125 ENSG00000159261 chr21:36461266-36461266;C/A missense_variant False CLDN15@p.D188N 1 0.5 ENSG00000106404 chr7:101232623-101232623;C/T missense_variant False CLCN4@p.R729W 1 0.915254237 ENSG00000073464 chrX:10220870-10220870;C/T missense_variant False CLCN3@p.R720S 1 0.1875 ENSG00000109572 chr4:169713089-169713089;G/T missense_variant False CLCA1@p.P401S 1 0.465346535 ENSG00000016490 chr1:86489014-86489014;C/T missense_variant False CLCA4@p.D166H 1 0.25 ENSG00000016602 chr1:86563708-86563708;G/C missense_variant False CLCF1@p.E51Q 1 0.270440252 ENSG00000175505 chr11:67367492-67367492;C/G missense_variant False CLCA4@p.Q328E 1 0.260869565 ENSG00000016602 chr1:86567451-86567451;C/G missense_variant False CLCA4@p.H681D 1 0.266666667 ENSG00000016602 chr1:86577991-86577991;C/G missense_variant False CLCA4@p.E367K 1 0.25 ENSG00000016602 chr1:86567568-86567568;G/A missense_variant False CLCA4@p.E156K 1 0.666666667 ENSG00000016602 chr1:86563678-86563678;G/A missense_variant False CLCA4@p.D471N 1 0.191780822 ENSG00000016602 chr1:86572664-86572664;G/A missense_variant False CLCA4@p.A59T 1 0.530726257 ENSG00000016602 chr1:86559947-86559947;G/A missense_variant False CLCN3@p.M209I 1 0.181818182 ENSG00000109572 chr4:169690550-169690550;G/C missense_variant False CLCA2@p.S879F 1 0.086734694 ENSG00000137975 chr1:86455331-86455331;C/T missense_variant False CLCA2@p.R737Q 1 0.134615385 ENSG00000137975 chr1:86453423-86453423;G/A missense_variant False CLCA2@p.I721M 1 0.161290323 ENSG00000137975 chr1:86453376-86453376;T/G missense_variant False CLCA2@p.D175H 1 0.12 ENSG00000137975 chr1:86430909-86430909;G/C missense_variant False CLCA1@p.R71Q 1 0.470588235 ENSG00000016490 chr1:86473466-86473466;G/A missense_variant False CLCA1@p.R687T 1 0.357142857 ENSG00000016490 chr1:86495622-86495622;G/C missense_variant False CLCF1@p.L84V 1 0.21686747 ENSG00000175505 chr11:67365564-67365564;G/C missense_variant False CLCN1@p.D117H 1 0.276315789 ENSG00000188037 chr7:143320711-143320711;G/C missense_variant False CLCN1@p.E715K 1 0.230769231 ENSG00000188037 chr7:143345733-143345733;G/A missense_variant False CLCN1@p.I516M 1 0.355932203 ENSG00000188037 chr7:143339587-143339587;C/G missense_variant False CLCN1@p.K518N 1 0.555555556 ENSG00000188037 chr7:143339593-143339593;G/T missense_variant False CLCN1@p.Q552H 1 0.342465753 ENSG00000188037 chr7:143342002-143342002;G/C missense_variant False CLCN1@p.R300W 1 0.527272727 ENSG00000188037 chr7:143330816-143330816;C/T missense_variant False CLCN1@p.S576C 1 0.432989691 ENSG00000188037 chr7:143342073-143342073;C/G missense_variant False CLCN2@p.E616Q 1 0.272727273 ENSG00000114859 chr3:184353671-184353671;C/G missense_variant False CLCN2@p.E690Rfs*6 1 0.19858156 ENSG00000114859 chr3:184353108-184353108;C/- frameshift_variant False CLCN2@p.G335V 1 0.619047619 ENSG00000114859 chr3:184357074-184357074;C/A missense_variant False CLCN2@p.I229M 1 0.32 ENSG00000114859 chr3:184357785-184357785;G/C missense_variant False CLCN2@p.K168N 1 0.356164384 ENSG00000114859 chr3:184358073-184358073;C/G missense_variant False CLCN2@p.V515M 1 0.394736842 ENSG00000114859 chr3:184354279-184354279;C/T missense_variant False CLCN2@p.W49* 1 0.25 ENSG00000114859 chr3:184359048-184359048;C/- frameshift_variant False CLCN3@p.H650Y 1 0.120481928 ENSG00000109572 chr4:169707065-169707065;C/T missense_variant False CLCN3@p.M118I 1 0.098360656 ENSG00000109572 chr4:169687693-169687693;G/C missense_variant False CKAP2@p.P573A 1 0.204545455 ENSG00000136108 chr13:52473996-52473996;C/G missense_variant False CKAP2@p.L433F 1 0.06557377 ENSG00000136108 chr13:52462558-52462558;G/C missense_variant False CKAP2@p.K383E 1 0.196721311 ENSG00000136108 chr13:52462406-52462406;A/G missense_variant False CIB4@p.M135I 1 0.254716981 ENSG00000157884 chr2:26583822-26583822;C/A missense_variant False CIC@p.E258K 1 0.3 ENSG00000079432 chr19:42287816-42287816;G/A missense_variant True CIC@p.E186Q 1 0.151041667 ENSG00000079432 chr19:42287423-42287423;G/C missense_variant True CIC@p.E104K 1 0.14516129 ENSG00000079432 chr19:42287098-42287098;G/A missense_variant True CIC@p.D266N 1 0.214285714 ENSG00000079432 chr19:42287840-42287840;G/A missense_variant True CIBAR1@p.F287L 1 0.738095238 ENSG00000188343 chr8:93728286-93728286;T/C missense_variant False CIBAR1@p.E76Q 1 0.166666667 ENSG00000188343 chr8:93701423-93701423;G/C missense_variant False CIB3@p.L153M 1 0.434782609 ENSG00000141977 chr19:16164803-16164803;G/T missense_variant False CIART@p.D379N 1 0.221153846 ENSG00000159208 chr1:150286931-150286931;G/A missense_variant False CIB3@p.E11Q 1 0.333333333 ENSG00000141977 chr19:16173445-16173445;C/G missense_variant False CIB2@p.E142K 1 0.337349398 ENSG00000136425 chr15:78105857-78105857;C/T missense_variant False CIB1@p.L123F 1 0.308411215 ENSG00000185043 chr15:90231191-90231191;C/G missense_variant False CIB1@p.D127N 1 0.314285714 ENSG00000185043 chr15:90231181-90231181;C/T missense_variant False CIART@p.L271F 1 0.1 ENSG00000159208 chr1:150286607-150286607;C/T missense_variant False CIART@p.E35D 1 0.172413793 ENSG00000159208 chr1:150283372-150283372;G/C missense_variant False CIC@p.G525C 1 0.182795699 ENSG00000079432 chr19:42290341-42290341;G/T missense_variant True CIC@p.G525V 1 0.180851064 ENSG00000079432 chr19:42290342-42290342;G/T missense_variant True CIC@p.N193Y 1 0.419354839 ENSG00000079432 chr19:42287444-42287444;A/T missense_variant True CIC@p.P909Q 1 0.139293139 ENSG00000079432 chr19:42291585-42291585;C/A missense_variant True CIC@p.R1512H 1 0.173913043 ENSG00000079432 chr19:42294899-42294899;G/A missense_variant True CIC@p.S1378F 1 0.078431373 ENSG00000079432 chr19:42294027-42294027;C/T missense_variant True CIC@p.S313F 1 0.282608696 ENSG00000079432 chr19:42288894-42288894;C/T missense_variant True CIDEA@p.E88Q 1 0.246753247 ENSG00000176194 chr18:12264385-12264385;G/C missense_variant False CIDEA@p.F176L 1 0.266666667 ENSG00000176194 chr18:12277138-12277138;C/G missense_variant False CIDEB@p.R56C 1 0.104938272 ENSG00000136305 chr14:24307391-24307391;G/A missense_variant False CIDEB@p.S30L 1 0.116788321 ENSG00000136305 chr14:24307468-24307468;G/A missense_variant False CIDEC@p.T144K 1 0.428571429 ENSG00000187288 chr3:9870005-9870005;G/T missense_variant False CIITA@p.A649S 1 0.263157895 ENSG00000179583 chr16:10907437-10907437;G/T missense_variant False CIITA@p.D125H 1 0.252873563 ENSG00000179583 chr16:10898939-10898939;G/C missense_variant False CIITA@p.E1062K 1 0.26618705 ENSG00000179583 chr16:10922201-10922201;G/A missense_variant False CIITA@p.H590R 1 0.454545455 ENSG00000179583 chr16:10907261-10907261;A/G missense_variant False CIITA@p.L236V 1 0.149425287 ENSG00000179583 chr16:10902735-10902735;C/G missense_variant False CIART@p.E146D 1 0.269565217 ENSG00000159208 chr1:150283876-150283876;G/C missense_variant False CIART@p.D33Y 1 0.183206107 ENSG00000159208 chr1:150283364-150283364;G/T missense_variant False CILK1@p.D427H 1 0.307692308 ENSG00000112144 chr6:53012122-53012122;C/G missense_variant False CHSY3@p.R375W 1 0.255033557 ENSG00000198108 chr5:130184265-130184265;C/T missense_variant False CHTF8@p.E89K 1 0.48 ENSG00000286140 chr16:69120526-69120526;C/T missense_variant False CHTF18@p.S629L 1 0.205128205 ENSG00000127586 chr16:794137-794137;C/T missense_variant False CHTF18@p.S160L 1 0.913043478 ENSG00000127586 chr16:789588-789588;C/T missense_variant False CHTF18@p.M903I 1 0.466666667 ENSG00000127586 chr16:797068-797068;G/C missense_variant False CHTF18@p.D760H 1 0.285714286 ENSG00000127586 chr16:795787-795787;G/C missense_variant False CHSY3@p.R527C 1 0.111111111 ENSG00000198108 chr5:130184721-130184721;C/T missense_variant False CHSY3@p.M691I 1 0.681818182 ENSG00000198108 chr5:130185215-130185215;G/A missense_variant False CIAPIN1@p.S171F 1 0.420289855 ENSG00000005194 chr16:57434088-57434088;G/A missense_variant False CHSY3@p.M431I 1 0.104347826 ENSG00000198108 chr5:130184435-130184435;G/A missense_variant False CHSY3@p.E725K 1 0.344 ENSG00000198108 chr5:130185315-130185315;G/A missense_variant False CHSY3@p.E642G 1 0.074074074 ENSG00000198108 chr5:130185067-130185067;A/G missense_variant False CHSY3@p.E590K 1 0.2 ENSG00000198108 chr5:130184910-130184910;G/A missense_variant False CHSY3@p.D263H 1 0.110429448 ENSG00000198108 chr5:129905616-129905616;G/C missense_variant False CHSY1@p.V565A 1 0.348837209 ENSG00000131873 chr15:101178103-101178103;A/G missense_variant False CHTF8@p.H57Y 1 0.26984127 ENSG00000286140 chr16:69120622-69120622;G/A missense_variant False CHUK@p.E118Q 1 0.133333333 ENSG00000213341 chr10:100222145-100222145;C/G missense_variant False CHUK@p.E232K 1 0.077669903 ENSG00000213341 chr10:100218821-100218821;C/T missense_variant False CHUK@p.K617del 1 0.44 ENSG00000213341 chr10:100194106-100194108;TCT/- inframe_deletion False CHUK@p.L455F 1 0.607142857 ENSG00000213341 chr10:100204650-100204650;G/A missense_variant False CHUK@p.R287T 1 0.631578947 ENSG00000213341 chr10:100218068-100218068;C/G missense_variant False CIAO1@p.F292V 1 0.379310345 ENSG00000144021 chr2:96271205-96271205;T/G missense_variant False CIAO1@p.R216C 1 0.173913043 ENSG00000144021 chr2:96268613-96268613;C/T missense_variant False CIAO1@p.S78F 1 0.115384615 ENSG00000144021 chr2:96267414-96267414;C/T missense_variant False CIAO2A@p.E23K 1 0.256410256 ENSG00000166797 chr15:64093702-64093702;C/T missense_variant False CIAO2A@p.E58K 1 0.162162162 ENSG00000166797 chr15:64088804-64088804;C/T missense_variant False CIAO2A@p.E74K 1 0.137931034 ENSG00000166797 chr15:64088756-64088756;C/T missense_variant False CIAO2A@p.S22F 1 0.125 ENSG00000166797 chr15:64093704-64093704;G/A missense_variant False CIAO2B@p.E13D 1 0.192307692 ENSG00000166595 chr16:66934326-66934326;C/G missense_variant False CIAO3@p.E430K 1 0.604395604 ENSG00000103245 chr16:730560-730560;C/T missense_variant False CIAPIN1@p.G66V 1 0.158469945 ENSG00000005194 chr16:57439295-57439295;C/A missense_variant False CIAPIN1@p.R88W 1 0.455284553 ENSG00000005194 chr16:57439230-57439230;G/A missense_variant False CIITA@p.P6L 1 0.533333333 ENSG00000179583 chr16:10877347-10877347;C/T missense_variant False CILK1@p.N2S 1 0.172839506 ENSG00000112144 chr6:53041232-53041232;T/C missense_variant False CIZ1@p.Q367H 1 0.583333333 ENSG00000148337 chr9:128179106-128179106;C/G missense_variant False CIT@p.I1746V 1 0.335664336 ENSG00000122966 chr12:119701901-119701901;T/C missense_variant False CIT@p.P1498S 1 0.471428571 ENSG00000122966 chr12:119712657-119712657;G/A missense_variant False CIT@p.M1133I 1 0.234096692 ENSG00000122966 chr12:119728568-119728568;C/T missense_variant False CIT@p.L539F 1 0.082352941 ENSG00000122966 chr12:119782568-119782568;G/A missense_variant False CIT@p.L46I 1 0.222222222 ENSG00000122966 chr12:119869162-119869162;G/T missense_variant False CIT@p.K454E 1 0.362068966 ENSG00000122966 chr12:119785001-119785001;T/C missense_variant False CIT@p.K1767N 1 0.294117647 ENSG00000122966 chr12:119701739-119701739;C/A missense_variant False CIT@p.F318L 1 0.170731707 ENSG00000122966 chr12:119825168-119825168;G/T missense_variant False CISH@p.S146F 1 0.06 ENSG00000114737 chr3:50607947-50607947;G/A missense_variant False CIT@p.E962K 1 0.095652174 ENSG00000122966 chr12:119735306-119735306;C/T missense_variant False CIT@p.E674Q 1 0.402777778 ENSG00000122966 chr12:119772832-119772832;C/G missense_variant False CIT@p.E640Q 1 0.085714286 ENSG00000122966 chr12:119775809-119775809;C/G missense_variant False CIT@p.E1651Q 1 0.132075472 ENSG00000122966 chr12:119708313-119708313;C/G missense_variant False CIT@p.E1512K 1 0.484210526 ENSG00000122966 chr12:119712615-119712615;C/T missense_variant False CIT@p.C1703S 1 0.25 ENSG00000122966 chr12:119704433-119704433;C/G missense_variant False CIT@p.Q1218E 1 0.134831461 ENSG00000122966 chr12:119720540-119720540;G/C missense_variant False CIT@p.Q339E 1 0.111111111 ENSG00000122966 chr12:119822916-119822916;G/C missense_variant False CIT@p.R48G 1 0.066225166 ENSG00000122966 chr12:119869156-119869156;G/C missense_variant False CIT@p.R905C 1 0.4 ENSG00000122966 chr12:119752115-119752115;G/A missense_variant False CIT@p.S140L 1 0.266903915 ENSG00000122966 chr12:119850271-119850271;G/A missense_variant False CIT@p.S248L 1 0.192307692 ENSG00000122966 chr12:119832781-119832781;G/A missense_variant False CIT@p.S288L 1 0.328571429 ENSG00000122966 chr12:119825259-119825259;G/A missense_variant False CIT@p.S577L 1 0.673796791 ENSG00000122966 chr12:119776778-119776778;G/A missense_variant False CITED2@p.D15N 1 0.306122449 ENSG00000164442 chr6:139373902-139373902;C/T missense_variant False CITED2@p.E245K 1 0.222891566 ENSG00000164442 chr6:139373212-139373212;C/T missense_variant False CITED2@p.M146I 1 0.421052632 ENSG00000164442 chr6:139373507-139373507;C/T missense_variant False CIZ1@p.E216Q 1 0.160714286 ENSG00000148337 chr9:128180757-128180757;C/G missense_variant False CIZ1@p.E530* 1 0.191666667 ENSG00000148337 chr9:128178398-128178402;ATTCT/- frameshift_variant False CIZ1@p.E753K 1 0.170731707 ENSG00000148337 chr9:128169090-128169090;C/T missense_variant False CIZ1@p.E759K 1 0.284722222 ENSG00000148337 chr9:128169072-128169072;C/T missense_variant False CIZ1@p.G166Vfs*43 1 0.176470588 ENSG00000148337 chr9:128185618-128185640;GGGAAGGGTTCATGGGGACCCCA/- frameshift_variant False CIZ1@p.G529A 1 0.089552239 ENSG00000148337 chr9:128178403-128178403;C/G missense_variant False CIT@p.A163D 1 0.442528736 ENSG00000122966 chr12:119850202-119850202;G/T missense_variant False CIRBP@p.E23K 1 0.283687943 ENSG00000099622 chr19:1271000-1271000;G/A missense_variant False CILK1@p.Q108E 1 0.9 ENSG00000112144 chr6:53031101-53031101;G/C missense_variant False CILP2@p.G704S 1 0.368421053 ENSG00000160161 chr19:19544655-19544655;G/A missense_variant False CILP2@p.S47Hfs*69 1 0.321428571 ENSG00000160161 chr19:19539750-19539750;C/- frameshift_variant False CILP2@p.S3W 1 0.541666667 ENSG00000160161 chr19:19538357-19538357;C/G missense_variant False CILP2@p.S148W 1 0.454545455 ENSG00000160161 chr19:19541097-19541097;C/G missense_variant False CILP2@p.R915Q 1 0.234042553 ENSG00000160161 chr19:19545289-19545289;G/A missense_variant False CILP2@p.R846W 1 0.106382979 ENSG00000160161 chr19:19545081-19545081;C/T missense_variant False CILP2@p.R442C 1 0.5 ENSG00000160161 chr19:19543869-19543869;C/T missense_variant False CILP2@p.G35C 1 0.296703297 ENSG00000160161 chr19:19539717-19539717;G/T missense_variant False CIR1@p.S307C 1 0.266129032 ENSG00000138433 chr2:174348930-174348930;G/C missense_variant False CILP2@p.G355D 1 0.591549296 ENSG00000160161 chr19:19543334-19543334;G/A missense_variant False CILP2@p.E1135K 1 0.294117647 ENSG00000160161 chr19:19545948-19545948;G/A missense_variant False CILP2@p.D870N 1 0.3375 ENSG00000160161 chr19:19545153-19545153;G/A missense_variant False CILK1@p.R577K 1 0.09 ENSG00000112144 chr6:53006350-53006350;C/T missense_variant False CILK1@p.R410K 1 0.217391304 ENSG00000112144 chr6:53012172-53012172;C/T missense_variant False CILK1@p.R163T 1 0.196969697 ENSG00000112144 chr6:53019230-53019230;C/G missense_variant False CILP@p.A179P 1 0.125 ENSG00000138615 chr15:65205356-65205356;C/G missense_variant False CILP@p.E187K 1 0.244274809 ENSG00000138615 chr15:65205332-65205332;C/T missense_variant False CILP@p.Q419H 1 0.226950355 ENSG00000138615 chr15:65199029-65199029;C/G missense_variant False CILP@p.T728A 1 0.435582822 ENSG00000138615 chr15:65198104-65198104;T/C missense_variant False CINP@p.E123K 1 0.22 ENSG00000100865 chr14:102349988-102349988;C/T missense_variant False CIP2A@p.E598K 1 0.422222222 ENSG00000163507 chr3:108560684-108560684;C/T missense_variant False CIP2A@p.E627K 1 0.246376812 ENSG00000163507 chr3:108559977-108559977;C/T missense_variant False CIP2A@p.E708Q 1 0.288461538 ENSG00000163507 chr3:108557306-108557306;C/G missense_variant False CIP2A@p.L727V 1 0.109375 ENSG00000163507 chr3:108557249-108557249;G/C missense_variant False CIP2A@p.L846F 1 0.295454545 ENSG00000163507 chr3:108552243-108552243;C/G missense_variant False CIP2A@p.S175F 1 0.428571429 ENSG00000163507 chr3:108581440-108581440;G/A missense_variant False CIP2A@p.S22L 1 0.18 ENSG00000163507 chr3:108589311-108589311;G/A missense_variant False CIPC@p.S307L 1 0.355932203 ENSG00000198894 chr14:77114038-77114038;C/T missense_variant False CIR1@p.E414K 1 0.141935484 ENSG00000138433 chr2:174348610-174348610;C/T missense_variant False CIR1@p.E89K 1 0.40625 ENSG00000138433 chr2:174380703-174380703;C/T missense_variant False CIR1@p.G301R 1 0.333333333 ENSG00000138433 chr2:174348949-174348949;C/T missense_variant False CIR1@p.K11N 1 0.28125 ENSG00000138433 chr2:174395590-174395590;C/G missense_variant False CLDN15@p.S111Y 1 0.197674419 ENSG00000106404 chr7:101234328-101234328;G/T missense_variant False CLDN16@p.S147C 1 0.239766082 ENSG00000113946 chr3:190408371-190408371;C/G missense_variant False CHSY1@p.R395K 1 0.324786325 ENSG00000131873 chr15:101178613-101178613;C/T missense_variant False CLNK@p.R270I 1 0.714285714 ENSG00000109684 chr4:10513561-10513561;C/A missense_variant False CLOCK@p.E183K 1 0.571428571 ENSG00000134852 chr4:55463697-55463697;C/T missense_variant False CLNS1A@p.S175F 1 0.222222222 ENSG00000074201 chr11:77622622-77622622;G/A missense_variant False CLNS1A@p.E219Q 1 0.098765432 ENSG00000074201 chr11:77619687-77619687;C/G missense_variant False CLNS1A@p.E142K 1 0.576086957 ENSG00000074201 chr11:77625011-77625011;C/T missense_variant False CLNK@p.S119F 1 0.511363636 ENSG00000109684 chr4:10564714-10564714;G/A missense_variant False CLNK@p.R292K 1 0.333333333 ENSG00000109684 chr4:10513495-10513495;C/T missense_variant False CLNK@p.I167V 1 0.387096774 ENSG00000109684 chr4:10540597-10540597;T/C missense_variant False CLOCK@p.E27K 1 0.142857143 ENSG00000134852 chr4:55479668-55479668;C/T missense_variant False CLN8@p.H202Y 1 0.532467532 ENSG00000182372 chr8:1780310-1780310;C/T missense_variant False CLN8@p.H199Y 1 0.138297872 ENSG00000182372 chr8:1780301-1780301;C/T missense_variant False CLN6@p.F302L 1 0.248 ENSG00000128973 chr15:68208170-68208170;G/C missense_variant False CLN3@p.V116I 1 0.147368421 ENSG00000261832 chr16:28487498-28487498;C/T missense_variant False CLN3@p.S391C 1 0.083916084 ENSG00000261832 chr16:28477589-28477589;G/C missense_variant False CLN3@p.R319H 1 0.5 ENSG00000261832 chr16:28482133-28482133;C/T missense_variant False CLOCK@p.E192K 1 0.296296296 ENSG00000134852 chr4:55459247-55459247;C/T missense_variant False CLOCK@p.E397Q 1 0.217821782 ENSG00000134852 chr4:55453071-55453071;C/G missense_variant False CLDN16@p.W29C 1 0.152941176 ENSG00000113946 chr3:190388416-190388416;G/C missense_variant False CLPSL2@p.L91F 1 0.230769231 ENSG00000196748 chr6:35779420-35779420;G/C missense_variant False CLPTM1@p.L408del 1 0.121052632 ENSG00000104853 chr19:44990479-44990481;TCC/- inframe_deletion False CLPTM1@p.G144S 1 0.484848485 ENSG00000104853 chr19:44974559-44974559;G/A missense_variant False CLPTM1@p.E340K 1 0.129310345 ENSG00000104853 chr19:44987403-44987403;G/A missense_variant False CLPTM1@p.E336K 1 0.257142857 ENSG00000104853 chr19:44987391-44987391;G/A missense_variant False CLPTM1@p.E227K 1 0.235772358 ENSG00000104853 chr19:44986461-44986461;G/A missense_variant False CLPTM1@p.D143G 1 0.5 ENSG00000104853 chr19:44974557-44974557;A/G missense_variant False CLPSL2@p.D32N 1 0.25862069 ENSG00000196748 chr6:35777468-35777468;G/A missense_variant False CLOCK@p.I131T 1 0.245689655 ENSG00000134852 chr4:55470763-55470763;A/G missense_variant False CLPP@p.S181L 1 0.172413793 ENSG00000125656 chr19:6364626-6364626;C/T missense_variant False CLPP@p.S156F 1 0.333333333 ENSG00000125656 chr19:6364551-6364551;C/T missense_variant False CLPP@p.A131V 1 0.3125 ENSG00000125656 chr19:6364476-6364476;C/T missense_variant False CLP1@p.R104Q 1 0.3 ENSG00000172409 chr11:57659787-57659787;G/A missense_variant False CLP1@p.L38F 1 0.173913043 ENSG00000172409 chr11:57659590-57659590;G/C missense_variant False CLP1@p.K9R 1 0.12 ENSG00000172409 chr11:57659502-57659502;A/G missense_variant False CLN3@p.L406V 1 0.409836066 ENSG00000261832 chr16:28477545-28477545;G/C missense_variant False CLN3@p.L355V 1 0.198019802 ENSG00000261832 chr16:28477799-28477799;G/C missense_variant False CLN3@p.G70E 1 0.29787234 ENSG00000261832 chr16:28489303-28489303;C/T missense_variant False CLK2@p.E11K 1 0.161616162 ENSG00000176444 chr1:155270947-155270947;C/T missense_variant False CLK2@p.F381L 1 0.470588235 ENSG00000176444 chr1:155264471-155264471;G/T missense_variant False CLK2@p.E457K 1 0.23255814 ENSG00000176444 chr1:155263349-155263349;C/T missense_variant False CLK2@p.E373Q 1 0.166666667 ENSG00000176444 chr1:155264497-155264497;C/G missense_variant False CLK2@p.E315Q 1 0.295454545 ENSG00000176444 chr1:155264765-155264765;C/G missense_variant False CLK2@p.E310K 1 0.064516129 ENSG00000176444 chr1:155265865-155265865;C/T missense_variant False CLK2@p.E217Q 1 0.23853211 ENSG00000176444 chr1:155268032-155268032;C/G missense_variant False CLK2@p.D420H 1 0.177514793 ENSG00000176444 chr1:155264009-155264009;C/G missense_variant False CLN3@p.G277V 1 0.13740458 ENSG00000261832 chr16:28482481-28482481;C/A missense_variant False CLK1@p.V190G 1 0.376470588 ENSG00000013441 chr2:200858069-200858069;A/C missense_variant False CLK1@p.R77K 1 0.17721519 ENSG00000013441 chr2:200861398-200861398;C/T missense_variant False CLK1@p.R198T 1 0.227722772 ENSG00000013441 chr2:200858045-200858045;C/G missense_variant False CLK1@p.Q226H 1 0.304347826 ENSG00000013441 chr2:200857872-200857872;C/G missense_variant False CLK1@p.H280L 1 0.063829787 ENSG00000013441 chr2:200856979-200856979;T/A missense_variant False CLK1@p.E75K 1 0.225 ENSG00000013441 chr2:200861405-200861405;C/T missense_variant False CLK2@p.G170V 1 0.1 ENSG00000176444 chr1:155268338-155268338;C/A missense_variant False CLK3@p.S173F 1 0.221374046 ENSG00000179335 chr15:74619270-74619270;C/T missense_variant False CLK4@p.D381G 1 0.315789474 ENSG00000113240 chr5:178605375-178605375;T/C missense_variant False CLK4@p.E39K 1 0.504347826 ENSG00000113240 chr5:178623302-178623302;C/T missense_variant False CLK4@p.E446D 1 0.433962264 ENSG00000113240 chr5:178603725-178603725;C/A missense_variant False CLK4@p.R196H 1 0.35443038 ENSG00000113240 chr5:178613799-178613799;C/T missense_variant False CLMN@p.E308K 1 0.133333333 ENSG00000165959 chr14:95204427-95204427;C/T missense_variant False CLMN@p.E513D 1 0.152173913 ENSG00000165959 chr14:95203810-95203810;C/G missense_variant False CLMN@p.I190S 1 0.088888889 ENSG00000165959 chr14:95213258-95213258;A/C missense_variant False CLMN@p.P631R 1 0.108108108 ENSG00000165959 chr14:95203457-95203457;G/C missense_variant False CLMN@p.P901S 1 0.079365079 ENSG00000165959 chr14:95196505-95196505;G/A missense_variant False CLMN@p.S784L 1 0.4 ENSG00000165959 chr14:95202998-95202998;G/A missense_variant False CLMP@p.A277T 1 0.385964912 ENSG00000166250 chr11:123073767-123073767;C/T missense_variant False CLMP@p.E262Q 1 0.5 ENSG00000166250 chr11:123074739-123074739;C/G missense_variant False CLMP@p.L194P 1 0.077777778 ENSG00000166250 chr11:123083183-123083183;A/G missense_variant False CLMP@p.Q196H 1 0.193548387 ENSG00000166250 chr11:123083176-123083176;C/G missense_variant False CLN3@p.E280Q 1 0.385714286 ENSG00000261832 chr16:28482379-28482379;C/G missense_variant False CLPTM1@p.M600I 1 0.149122807 ENSG00000104853 chr19:44992687-44992687;G/A missense_variant False CLPTM1@p.Q80E 1 0.111111111 ENSG00000104853 chr19:44973139-44973139;C/G missense_variant False CLPTM1L@p.A353Pfs*7 1 0.184210526 ENSG00000049656 chr5:1330288-1330303;CGGCTCCAACACCCGC/- frameshift_variant False CLTC@p.E1370K 1 0.117647059 ENSG00000141367 chr17:59683453-59683453;G/A missense_variant False CLTC@p.L1007M 1 0.378151261 ENSG00000141367 chr17:59681011-59681011;C/A missense_variant False CLTC@p.K1163N 1 0.3 ENSG00000141367 chr17:59682317-59682317;G/T missense_variant False CLTC@p.I931T 1 0.192307692 ENSG00000141367 chr17:59677184-59677184;T/C missense_variant False CLTC@p.G509A 1 0.170454545 ENSG00000141367 chr17:59664791-59664791;G/C missense_variant False CLTC@p.E555K 1 0.257142857 ENSG00000141367 chr17:59666121-59666121;G/A missense_variant False CLTC@p.E1560D 1 0.2625 ENSG00000141367 chr17:59685661-59685661;A/C missense_variant False CLTC@p.E1310Q 1 0.13740458 ENSG00000141367 chr17:59683149-59683149;G/C missense_variant False CLSTN3@p.E737K 1 0.227272727 ENSG00000139182 chr12:7149657-7149657;G/A missense_variant False CLTC@p.E1187Q 1 0.088235294 ENSG00000141367 chr17:59682387-59682387;G/C missense_variant False CLTB@p.D4N 1 0.291666667 ENSG00000175416 chr5:176416354-176416354;C/T missense_variant False CLTA@p.E210K 1 0.163636364 ENSG00000122705 chr9:36211655-36211655;G/A missense_variant False CLSTN3@p.Y177N 1 0.142857143 ENSG00000139182 chr12:7135472-7135472;T/A missense_variant False CLSTN3@p.S887F 1 0.318181818 ENSG00000139182 chr12:7157621-7157621;C/T missense_variant False CLSTN3@p.S408C 1 0.120253165 ENSG00000139182 chr12:7137967-7137967;C/G missense_variant False CLTC@p.L894V 1 0.424528302 ENSG00000141367 chr17:59677072-59677072;C/G missense_variant False CLTC@p.P593R 1 0.089552239 ENSG00000141367 chr17:59666236-59666236;C/G missense_variant False CLTC@p.Q615K 1 0.134328358 ENSG00000141367 chr17:59666540-59666540;C/A missense_variant False CLTC@p.R1293G 1 0.155737705 ENSG00000141367 chr17:59683098-59683098;C/G missense_variant False CLTC@p.R746G 1 0.371794872 ENSG00000141367 chr17:59668884-59668884;A/G missense_variant False CLTC@p.R837K 1 0.237288136 ENSG00000141367 chr17:59674792-59674792;G/A missense_variant False CLTC@p.S1483L 1 0.214285714 ENSG00000141367 chr17:59685069-59685069;C/T missense_variant False CLTCL1@p.D1203N 1 0.183098592 ENSG00000070371 chr22:19201487-19201487;C/T missense_variant False CLTCL1@p.D1485N 1 0.230769231 ENSG00000070371 chr22:19187710-19187710;C/T missense_variant False CLTCL1@p.E1100Q 1 0.242424242 ENSG00000070371 chr22:19209066-19209066;C/G missense_variant False CLTCL1@p.E1526Q 1 0.408450704 ENSG00000070371 chr22:19187587-19187587;C/G missense_variant False CLTCL1@p.L1514M 1 0.115107914 ENSG00000070371 chr22:19187623-19187623;G/T missense_variant False CLTCL1@p.N1103Y 1 0.375 ENSG00000070371 chr22:19209057-19209057;T/A missense_variant False CLTCL1@p.Q1330H 1 0.5 ENSG00000070371 chr22:19196540-19196540;C/G missense_variant False CLTCL1@p.Q257H 1 0.24137931 ENSG00000070371 chr22:19239299-19239299;C/G missense_variant False CLTCL1@p.V1232I 1 0.259259259 ENSG00000070371 chr22:19201400-19201400;C/T missense_variant False CLU@p.L344Q 1 0.277777778 ENSG00000120885 chr8:27599913-27599913;A/T missense_variant False CLSTN3@p.M565L 1 0.140350877 ENSG00000139182 chr12:7143021-7143021;A/T missense_variant False CLSTN2@p.R933K 1 0.208333333 ENSG00000158258 chr3:140566183-140566183;G/A missense_variant False CLPTM1L@p.E87K 1 0.361111111 ENSG00000049656 chr5:1344355-1344355;C/T missense_variant False CLPX@p.S611F 1 0.385964912 ENSG00000166855 chr15:65150893-65150893;G/A missense_variant False CLSPN@p.E487K 1 0.133333333 ENSG00000092853 chr1:35760462-35760462;C/T missense_variant False CLSPN@p.E1294K 1 0.276422764 ENSG00000092853 chr1:35736943-35736943;C/T missense_variant False CLRN2@p.V148A 1 0.29787234 ENSG00000249581 chr4:17526826-17526826;T/C missense_variant False CLRN2@p.L203F 1 0.416666667 ENSG00000249581 chr4:17526992-17526992;G/T missense_variant False CLRN1@p.P87L 1 0.133333333 ENSG00000163646 chr3:150941755-150941755;G/A missense_variant False CLRN1@p.G14A 1 0.176470588 ENSG00000163646 chr3:150972668-150972668;C/G missense_variant False CLPX@p.R565W 1 0.328358209 ENSG00000166855 chr15:65153558-65153558;G/A missense_variant False CLSTN2@p.Q378E 1 0.108108108 ENSG00000158258 chr3:140459679-140459679;C/G missense_variant False CLPX@p.K126N 1 0.178571429 ENSG00000166855 chr15:65166766-65166766;C/A missense_variant False CLPX@p.A457V 1 0.189189189 ENSG00000166855 chr15:65155023-65155023;G/A missense_variant False CLPTM1L@p.V194E 1 0.12254902 ENSG00000049656 chr5:1338878-1338878;A/T missense_variant False CLPTM1L@p.S245L 1 0.434782609 ENSG00000049656 chr5:1335119-1335119;G/A missense_variant False CLPTM1L@p.K315N 1 0.136363636 ENSG00000049656 chr5:1331830-1331830;C/G missense_variant False CLPTM1L@p.I423M 1 0.275862069 ENSG00000049656 chr5:1323798-1323798;G/C missense_variant False CLSPN@p.E991K 1 0.183908046 ENSG00000092853 chr1:35743526-35743526;C/T missense_variant False CLSPN@p.K933N 1 0.471910112 ENSG00000092853 chr1:35746821-35746821;C/G missense_variant False CLSPN@p.L682V 1 0.208333333 ENSG00000092853 chr1:35749796-35749796;G/C missense_variant False CLSPN@p.L980V 1 0.402298851 ENSG00000092853 chr1:35745479-35745479;G/C missense_variant False CLSPN@p.S384L 1 0.090909091 ENSG00000092853 chr1:35760770-35760770;G/A missense_variant False CLSTN1@p.E681Q 1 0.174311927 ENSG00000171603 chr1:9735017-9735017;C/G missense_variant False CLSTN1@p.H731Y 1 0.231884058 ENSG00000171603 chr1:9734062-9734062;G/A missense_variant False CLSTN1@p.L405I 1 0.423728814 ENSG00000171603 chr1:9744416-9744416;G/T missense_variant False CLSTN1@p.Q121H 1 0.125954198 ENSG00000171603 chr1:9755191-9755191;C/A missense_variant False CLSTN1@p.S483F 1 0.20754717 ENSG00000171603 chr1:9741165-9741165;G/A missense_variant False CLSTN2@p.A673G 1 0.384615385 ENSG00000158258 chr3:140558834-140558834;C/G missense_variant False CLSTN2@p.D368N 1 0.125 ENSG00000158258 chr3:140459649-140459649;G/A missense_variant False CLSTN2@p.D483Y 1 0.1484375 ENSG00000158258 chr3:140532426-140532426;G/T missense_variant False CLSTN2@p.E115K 1 0.235294118 ENSG00000158258 chr3:140403739-140403739;G/A missense_variant False CLSTN2@p.E155K 1 0.132352941 ENSG00000158258 chr3:140404592-140404592;G/A missense_variant False CLSTN2@p.E865K 1 0.17721519 ENSG00000158258 chr3:140564071-140564071;G/A missense_variant False CLSTN2@p.I148V 1 0.12345679 ENSG00000158258 chr3:140404571-140404571;A/G missense_variant False CLK1@p.D461N 1 0.75 ENSG00000013441 chr2:200853380-200853380;C/T missense_variant False CLIP4@p.V530G 1 0.151315789 ENSG00000115295 chr2:29163885-29163885;T/G missense_variant False CLIP4@p.Q628E 1 0.142857143 ENSG00000115295 chr2:29181657-29181657;C/G missense_variant False CLEC18B@p.Q172H 1 0.18226601 ENSG00000140839 chr16:74413617-74413617;C/A missense_variant False CLEC1B@p.R163H 1 0.207885305 ENSG00000165682 chr12:9995197-9995197;C/T missense_variant False CLEC1B@p.E217D 1 0.232432432 ENSG00000165682 chr12:9993182-9993182;C/G missense_variant False CLEC1B@p.D188H 1 0.355932203 ENSG00000165682 chr12:9993271-9993271;C/G missense_variant False CLEC1A@p.Q88E 1 0.367346939 ENSG00000150048 chr12:10081366-10081366;G/C missense_variant False CLEC1A@p.M172I 1 0.09375 ENSG00000150048 chr12:10075531-10075531;C/T missense_variant False CLEC1A@p.F245S 1 0.155378486 ENSG00000150048 chr12:10071442-10071442;A/G missense_variant False CLEC18B@p.C251W 1 0.13215859 ENSG00000140839 chr16:74412804-74412804;A/C missense_variant False CLEC16A@p.E415K 1 0.176470588 ENSG00000038532 chr16:11003245-11003245;G/A missense_variant False CLEC17A@p.P142L 1 0.403669725 ENSG00000187912 chr19:14595295-14595295;C/T missense_variant False CLEC16A@p.S119L 1 0.243902439 ENSG00000038532 chr16:10969173-10969173;C/T missense_variant False CLEC16A@p.R970S 1 0.243902439 ENSG00000038532 chr16:11178438-11178438;G/C missense_variant False CLEC16A@p.R664Q 1 0.169811321 ENSG00000038532 chr16:11051637-11051637;G/A missense_variant False CLEC16A@p.M378I 1 0.431818182 ENSG00000038532 chr16:11003136-11003136;G/A missense_variant False CLEC16A@p.K404E 1 0.315789474 ENSG00000038532 chr16:11003212-11003212;A/G missense_variant False CLEC2B@p.R29P 1 0.26 ENSG00000110852 chr12:9857625-9857625;C/G missense_variant False CLEC2D@p.E150K 1 0.208333333 ENSG00000069493 chr12:9692918-9692918;G/A missense_variant False CLEC3A@p.K196N 1 0.1875 ENSG00000166509 chr16:78030808-78030808;G/T missense_variant False CLEC3A@p.R193H 1 0.344827586 ENSG00000166509 chr16:78030798-78030798;G/A missense_variant False CLEC3A@p.R197T 1 0.142857143 ENSG00000166509 chr16:78030810-78030810;G/C missense_variant False CLEC3B@p.D146N 1 0.4 ENSG00000163815 chr3:45035751-45035751;G/A missense_variant False CLEC3B@p.D166N 1 0.069444444 ENSG00000163815 chr3:45035811-45035811;G/A missense_variant False CLEC4A@p.S26F 1 0.183333333 ENSG00000111729 chr12:8123955-8123955;C/T missense_variant False CLEC4A@p.Y184C 1 0.367346939 ENSG00000111729 chr12:8136888-8136888;A/G missense_variant False CLEC4C@p.G143R 1 0.305785124 ENSG00000198178 chr12:7730867-7730867;C/T missense_variant False CLEC4D@p.D101A 1 0.4 ENSG00000166527 chr12:8519078-8519078;A/C missense_variant False CLEC4D@p.G12A 1 0.123287671 ENSG00000166527 chr12:8515242-8515242;G/C missense_variant False CLEC4D@p.R137K 1 0.373626374 ENSG00000166527 chr12:8520251-8520251;G/A missense_variant False CLEC4E@p.L158F 1 0.294117647 ENSG00000166523 chr12:8536104-8536104;C/A missense_variant False CLEC4E@p.S18C 1 0.144032922 ENSG00000166523 chr12:8539932-8539932;G/C missense_variant False CLEC4E@p.S218Y 1 0.295454545 ENSG00000166523 chr12:8534645-8534645;G/T missense_variant False CLEC4E@p.S95C 1 0.283018868 ENSG00000166523 chr12:8537203-8537203;G/C missense_variant False CLEC16A@p.E595K 1 0.12 ENSG00000038532 chr16:11044040-11044040;G/A missense_variant False CLEC14A@p.M415I 1 0.52238806 ENSG00000176435 chr14:38254778-38254778;C/G missense_variant False CLEC4F@p.R388T 1 0.065789474 ENSG00000152672 chr2:70816218-70816218;C/G missense_variant False CLDN1@p.P196S 1 0.360215054 ENSG00000163347 chr3:190308327-190308327;G/A missense_variant False CLDN3@p.F146L 1 0.347826087 ENSG00000165215 chr7:73769612-73769612;G/T missense_variant False CLDN2@p.M156I 1 0.175 ENSG00000165376 chrX:106928696-106928696;G/A missense_variant False CLDN2@p.K157Q 1 0.898734177 ENSG00000165376 chrX:106928697-106928697;A/C missense_variant False CLDN22@p.T213K 1 0.060810811 ENSG00000177300 chr4:183319581-183319581;G/T missense_variant False CLDN22@p.L177V 1 0.194029851 ENSG00000177300 chr4:183319690-183319690;G/C missense_variant False CLDN1@p.V211L 1 0.136563877 ENSG00000163347 chr3:190308282-190308282;C/G missense_variant False CLDN1@p.L73V 1 0.138613861 ENSG00000163347 chr3:190321990-190321990;G/C missense_variant False CLEC14A@p.L413F 1 0.233333333 ENSG00000176435 chr14:38254784-38254784;C/G missense_variant False CLDN19@p.P163Gfs*119 1 0.263157895 ENSG00000164007 chr1:42735999-42736017;AGCCCACGAACAGGGCTGG/- frameshift_variant False CLDN19@p.A55T 1 0.25 ENSG00000164007 chr1:42739901-42739901;C/T missense_variant False CLDN18@p.V40I 1 0.179245283 ENSG00000066405 chr3:137998986-137998986;G/A missense_variant False CLDN18@p.Q56H 1 0.119402985 ENSG00000066405 chr3:138010393-138010393;G/C missense_variant False CLDN17@p.L90V 1 0.3125 ENSG00000156282 chr21:30166350-30166350;G/C missense_variant False CLDN17@p.I99M 1 0.305785124 ENSG00000156282 chr21:30166321-30166321;G/C missense_variant False CLDN4@p.I89M 1 0.389830508 ENSG00000189143 chr7:73831468-73831468;C/G missense_variant False CLDN5@p.A118T 1 0.48 ENSG00000184113 chr22:19523904-19523904;C/T missense_variant False CLDN5@p.D211N 1 0.117647059 ENSG00000184113 chr22:19523625-19523625;C/T missense_variant False CLDN5@p.M29I 1 0.130434783 ENSG00000184113 chr22:19524169-19524169;C/A missense_variant False CLDN5@p.Q63Afs*190 1 0.111111111 ENSG00000184113 chr22:19524069-19524070;-/C frameshift_variant False CLDN7@p.S34A 1 0.093023256 ENSG00000181885 chr17:7261944-7261944;A/C missense_variant False CLDN8@p.A180D 1 0.056338028 ENSG00000156284 chr21:30215387-30215387;G/T missense_variant False CLDN8@p.C64R 1 0.196428571 ENSG00000156284 chr21:30215736-30215736;A/G missense_variant False CLDN9@p.R194C 1 0.901408451 ENSG00000213937 chr16:3013942-3013942;C/T missense_variant False CLDND1@p.N207S 1 0.184782609 ENSG00000080822 chr3:98516801-98516801;T/C missense_variant False CLEC11A@p.R266G 1 0.421052632 ENSG00000105472 chr19:50725291-50725291;C/G missense_variant False CLEC12B@p.E130K 1 0.363636364 ENSG00000256660 chr12:10014720-10014720;G/A missense_variant False CLEC14A@p.A201T 1 0.423076923 ENSG00000176435 chr14:38255422-38255422;C/T missense_variant False CLEC14A@p.E365K 1 0.333333333 ENSG00000176435 chr14:38254930-38254930;C/T missense_variant False CLEC14A@p.E427K 1 0.170731707 ENSG00000176435 chr14:38254744-38254744;C/T missense_variant False CLEC14A@p.G156S 1 0.454545455 ENSG00000176435 chr14:38255557-38255557;C/T missense_variant False CLEC14A@p.K422N 1 0.395833333 ENSG00000176435 chr14:38254757-38254757;C/A missense_variant False CLEC4F@p.I254M 1 0.242574257 ENSG00000152672 chr2:70816619-70816619;G/C missense_variant False CLEC4F@p.T197M 1 0.202380952 ENSG00000152672 chr2:70816791-70816791;G/A missense_variant False CLIP4@p.P548S 1 0.235294118 ENSG00000115295 chr2:29163938-29163938;C/T missense_variant False CLIP1@p.E79K 1 0.318918919 ENSG00000130779 chr12:122377811-122377811;C/T missense_variant False CLIP1@p.Q585K 1 0.165562914 ENSG00000130779 chr12:122341451-122341451;G/T missense_variant False CLIP1@p.Q1311E 1 0.114864865 ENSG00000130779 chr12:122278189-122278189;G/C missense_variant False CLIP1@p.P184A 1 0.041237113 ENSG00000130779 chr12:122377496-122377496;G/C missense_variant False CLIP1@p.K1288N 1 0.454545455 ENSG00000130779 chr12:122278844-122278844;C/G missense_variant False CLIP1@p.G251V 1 0.222222222 ENSG00000130779 chr12:122364013-122364013;C/A missense_variant False CLIP1@p.G1356R 1 0.162162162 ENSG00000130779 chr12:122274063-122274063;C/T missense_variant False CLIP1@p.E603K 1 0.073717949 ENSG00000130779 chr12:122341397-122341397;C/T missense_variant False CLIC5@p.E395Q 1 0.324324324 ENSG00000112782 chr6:45903138-45903138;C/G missense_variant False CLIP1@p.E569Q 1 0.220930233 ENSG00000130779 chr12:122341499-122341499;C/G missense_variant False CLIP1@p.E370Q 1 0.4125 ENSG00000130779 chr12:122355210-122355210;C/G missense_variant False CLIP1@p.D618N 1 0.212765957 ENSG00000130779 chr12:122341352-122341352;C/T missense_variant False CLINT1@p.V386I 1 0.163934426 ENSG00000113282 chr5:157791927-157791927;C/T missense_variant False CLINT1@p.L544F 1 0.466666667 ENSG00000113282 chr5:157787892-157787892;C/G missense_variant False CLIC6@p.M703I 1 0.053571429 ENSG00000159212 chr21:34716476-34716476;G/A missense_variant False CLIP1@p.R217T 1 0.173469388 ENSG00000130779 chr12:122377396-122377396;C/G missense_variant False CLIP1@p.S200L 1 0.070351759 ENSG00000130779 chr12:122377447-122377447;G/A missense_variant False CLIP1@p.S20Rfs*4 1 0.140350877 ENSG00000130779 chr12:122380393-122380393;G/- frameshift_variant False CLIP1@p.S321L 1 0.2 ENSG00000130779 chr12:122361002-122361002;G/A missense_variant False CLIP1@p.S48F 1 0.051051051 ENSG00000130779 chr12:122377903-122377903;G/A missense_variant False CLIP1@p.T595M 1 0.258064516 ENSG00000130779 chr12:122341420-122341420;G/A missense_variant False CLIP2@p.A33V 1 0.341463415 ENSG00000106665 chr7:74317644-74317644;C/T missense_variant False CLIP2@p.A799T 1 0.333333333 ENSG00000106665 chr7:74376796-74376796;G/A missense_variant False CLIP2@p.E374K 1 0.375 ENSG00000106665 chr7:74357382-74357382;G/A missense_variant False CLIP2@p.K626N 1 0.189189189 ENSG00000106665 chr7:74376279-74376279;G/T missense_variant False CLIP2@p.K834N 1 0.366666667 ENSG00000106665 chr7:74386543-74386543;G/C missense_variant False CLIP2@p.R287H 1 0.056818182 ENSG00000106665 chr7:74356466-74356466;G/A missense_variant False CLIP2@p.T230M 1 0.2125 ENSG00000106665 chr7:74353890-74353890;C/T missense_variant False CLIP3@p.P174S 1 0.066666667 ENSG00000105270 chr19:36026628-36026628;G/A missense_variant False CLIP3@p.V238I 1 0.195652174 ENSG00000105270 chr19:36024602-36024602;C/T missense_variant False CLIP4@p.H381Y 1 0.16091954 ENSG00000115295 chr2:29152804-29152804;C/T missense_variant False CLIP4@p.L170F 1 0.293103448 ENSG00000115295 chr2:29133797-29133797;G/C missense_variant False CLIC6@p.F489Y 1 0.203125 ENSG00000159212 chr21:34707317-34707317;T/A missense_variant False CLIC5@p.E248Q 1 0.114893617 ENSG00000112782 chr6:45949290-45949290;C/G missense_variant False CLEC4F@p.T357S 1 0.078651685 ENSG00000152672 chr2:70816312-70816312;T/A missense_variant False CLEC6A@p.E109K 1 0.3 ENSG00000205846 chr12:8465585-8465585;G/A missense_variant False CLECL1@p.V84A 1 0.173913043 None chr12:9733014-9733014;A/G missense_variant False CLEC9A@p.Y235S 1 0.179104478 ENSG00000197992 chr12:10065610-10065610;A/C missense_variant False CLEC9A@p.E5Q 1 0.157894737 ENSG00000197992 chr12:10052700-10052700;G/C missense_variant False CLEC7A@p.S217F 1 0.4 ENSG00000172243 chr12:10118552-10118552;G/A missense_variant False CLEC7A@p.Q23E 1 0.111111111 ENSG00000172243 chr12:10130016-10130016;G/C missense_variant False CLEC7A@p.E163K 1 0.315789474 ENSG00000172243 chr12:10125302-10125302;C/T missense_variant False CLEC5A@p.D36N 1 0.303370787 ENSG00000258227 chr7:141945374-141945374;C/T missense_variant False CLIC5@p.D393N 1 0.203125 ENSG00000112782 chr6:45903144-45903144;C/T missense_variant False CLEC5A@p.D171H 1 0.150943396 ENSG00000258227 chr7:141930160-141930160;C/G missense_variant False CLEC4M@p.S292C 1 0.169230769 ENSG00000104938 chr19:7766746-7766746;C/G missense_variant False CLEC4M@p.R25T 1 0.358695652 ENSG00000104938 chr19:7763420-7763420;G/C missense_variant False CLEC4M@p.D18Y 1 0.225806452 ENSG00000104938 chr19:7763398-7763398;G/T missense_variant False CLEC4G@p.S168L 1 0.65 ENSG00000182566 chr19:7730143-7730143;G/A missense_variant False CLEC4G@p.K289I 1 0.138461538 ENSG00000182566 chr19:7729382-7729382;T/A missense_variant False CLGN@p.D147N 1 0.285714286 ENSG00000153132 chr4:140402047-140402047;C/T missense_variant False CLGN@p.E64K 1 0.057142857 ENSG00000153132 chr4:140410581-140410581;C/T missense_variant False CLGN@p.G595E 1 0.151515152 ENSG00000153132 chr4:140389273-140389273;C/T missense_variant False CLGN@p.L137F 1 0.15625 ENSG00000153132 chr4:140405950-140405950;C/G missense_variant False CLHC1@p.A318S 1 0.222222222 ENSG00000162994 chr2:55206324-55206324;C/A missense_variant False CLHC1@p.A577T 1 0.396551724 ENSG00000162994 chr2:55175822-55175822;C/T missense_variant False CLHC1@p.D148Y 1 0.21875 ENSG00000162994 chr2:55212730-55212730;C/A missense_variant False CLHC1@p.E380Q 1 0.106060606 ENSG00000162994 chr2:55181613-55181613;C/G missense_variant False CLHC1@p.Q445H 1 0.253164557 ENSG00000162994 chr2:55180559-55180559;C/A missense_variant False CLHC1@p.S398C 1 0.18556701 ENSG00000162994 chr2:55180701-55180701;G/C missense_variant False CLIC1@p.C24F 1 0.120689655 ENSG00000213719 chr6:31734232-31734232;C/A missense_variant False CLIC1@p.E72K 1 0.546511628 ENSG00000213719 chr6:31733897-31733897;C/T missense_variant False CLIC1@p.S163C 1 0.256578947 ENSG00000213719 chr6:31732293-31732293;G/C missense_variant False CLIC2@p.R145C 1 0.857142857 ENSG00000155962 chrX:155279298-155279298;G/A missense_variant False CLIC3@p.K213E 1 0.157894737 ENSG00000169583 chr9:136994755-136994755;T/C missense_variant False CLIC3@p.R27P 1 0.26 ENSG00000169583 chr9:136995711-136995711;C/G missense_variant False CLIC4@p.D28Y 1 0.444444444 ENSG00000169504 chr1:24797751-24797751;G/T missense_variant False CHSY1@p.T204M 1 0.294117647 ENSG00000131873 chr15:101235287-101235287;G/A missense_variant False CHSY1@p.P359H 1 0.258064516 ENSG00000131873 chr15:101178721-101178721;G/T missense_variant False CLUAP1@p.E218K 1 0.212121212 ENSG00000103351 chr16:3519975-3519975;G/A missense_variant False CHD1L@p.E702K 1 0.12295082 ENSG00000131778 chr1:147286383-147286383;G/A missense_variant False CHD2@p.E1065Q 1 0.162162162 ENSG00000173575 chr15:92984456-92984456;G/C missense_variant False CHD2@p.E1059Q 1 0.121212121 ENSG00000173575 chr15:92984438-92984438;G/C missense_variant False CHD2@p.D1660Y 1 0.402777778 ENSG00000173575 chr15:93020083-93020083;G/T missense_variant False CHD2@p.D1431Y 1 0.050955414 ENSG00000173575 chr15:93004629-93004629;G/T missense_variant False CHD1L@p.L501P 1 0.075862069 ENSG00000131778 chr1:147276220-147276220;T/C missense_variant False CHD1L@p.H456N 1 0.479166667 ENSG00000131778 chr1:147275449-147275449;C/A missense_variant False CHD1L@p.E113Q 1 0.298701299 ENSG00000131778 chr1:147254966-147254966;G/C missense_variant False CHD2@p.E287Q 1 0.137931034 ENSG00000173575 chr15:92942875-92942875;G/C missense_variant False CHD1@p.Y522C 1 0.068181818 ENSG00000153922 chr5:98896371-98896371;T/C missense_variant False CHD1@p.Y1270C 1 0.182291667 ENSG00000153922 chr5:98872103-98872103;T/C missense_variant False CHD1@p.V880del 1 0.266666667 ENSG00000153922 chr5:98883166-98883168;AAC/- inframe_deletion False CHD1@p.Q938E 1 0.138888889 ENSG00000153922 chr5:98882030-98882030;G/C missense_variant False CHD1@p.P1232A 1 0.274193548 ENSG00000153922 chr5:98872433-98872433;G/C missense_variant False CHD1@p.L626V 1 0.411764706 ENSG00000153922 chr5:98893531-98893531;G/C missense_variant False CHD2@p.E1412A 1 0.046511628 ENSG00000173575 chr15:93002274-93002274;A/C missense_variant False CHD2@p.E597K 1 0.392857143 ENSG00000173575 chr15:92955492-92955492;G/A missense_variant False CHD7@p.H533N 1 0.178571429 ENSG00000171316 chr8:60743029-60743029;C/A missense_variant False CHD2@p.S23L 1 0.309090909 ENSG00000173575 chr15:92924326-92924326;C/T missense_variant False CHD3@p.E723K 1 0.283464567 ENSG00000170004 chr17:7899026-7899026;G/A missense_variant False CHD3@p.E667K 1 0.168 ENSG00000170004 chr17:7898050-7898050;G/A missense_variant False CHD3@p.A1877V 1 0.855769231 ENSG00000170004 chr17:7910467-7910467;C/T missense_variant False CHD2@p.S887F 1 0.387387387 ENSG00000173575 chr15:92978316-92978316;C/T missense_variant False CHD2@p.S70L 1 0.237113402 ENSG00000173575 chr15:92924467-92924467;C/T missense_variant False CHD2@p.S627Yfs*6 1 0.193548387 ENSG00000173575 chr15:92956528-92956531;TCTT/- frameshift_variant False CHD2@p.S1590C 1 0.355555556 ENSG00000173575 chr15:93014772-93014772;C/G missense_variant False CHD2@p.E67K 1 0.370786517 ENSG00000173575 chr15:92924457-92924457;G/A missense_variant False CHD2@p.R1713T 1 0.272727273 ENSG00000173575 chr15:93020243-93020243;G/C missense_variant False CHD2@p.Q529K 1 0.171052632 ENSG00000173575 chr15:92953439-92953439;C/A missense_variant False CHD2@p.L767V 1 0.161290323 ENSG00000173575 chr15:92971874-92971874;C/G missense_variant False CHD2@p.I1210M 1 0.384615385 ENSG00000173575 chr15:92996991-92996991;C/G missense_variant False CHD2@p.H937Y 1 0.213017751 ENSG00000173575 chr15:92979216-92979216;C/T missense_variant False CHD2@p.H581Y 1 0.208333333 ENSG00000173575 chr15:92955444-92955444;C/T missense_variant False CHD1@p.L206I 1 0.6 ENSG00000153922 chr5:98901054-98901054;G/T missense_variant False CHD1@p.H1536Y 1 0.382352941 ENSG00000153922 chr5:98858361-98858361;G/A missense_variant False CHD1@p.E71D 1 0.404494382 ENSG00000153922 chr5:98904939-98904939;T/G missense_variant False CHAF1A@p.L246W 1 0.162790698 ENSG00000167670 chr19:4409536-4409536;T/G missense_variant False CHAF1B@p.P515Q 1 0.464788732 ENSG00000159259 chr21:36415345-36415345;C/A missense_variant False CHAF1B@p.P434R 1 0.212121212 ENSG00000159259 chr21:36413123-36413123;C/G missense_variant False CHAF1B@p.P388T 1 0.166666667 ENSG00000159259 chr21:36412984-36412984;C/A missense_variant False CHAF1B@p.D86N 1 0.17699115 ENSG00000159259 chr21:36387727-36387727;G/A missense_variant False CHAF1A@p.V689L 1 0.203883495 ENSG00000167670 chr19:4432069-4432069;G/T missense_variant False CHAF1A@p.S60F 1 0.318584071 ENSG00000167670 chr19:4408978-4408978;C/T missense_variant False CHAF1A@p.K332N 1 0.202702703 ENSG00000167670 chr19:4418055-4418055;G/C missense_variant False CHD1@p.E1321Rfs*17 1 0.138613861 ENSG00000153922 chr5:98870704-98870705;-/T frameshift_variant False CHAF1A@p.G229E 1 0.282608696 ENSG00000167670 chr19:4409485-4409485;G/A missense_variant False CHAF1A@p.E804K 1 0.401574803 ENSG00000167670 chr19:4433276-4433276;G/A missense_variant False CHAF1A@p.E107K 1 0.160714286 ENSG00000167670 chr19:4409118-4409118;G/A missense_variant False CHAD@p.T298I 1 0.256716418 ENSG00000136457 chr17:50465752-50465752;G/A missense_variant False CHAD@p.S320F 1 0.05 ENSG00000136457 chr17:50465419-50465419;G/A missense_variant False CHAD@p.I102M 1 0.420289855 ENSG00000136457 chr17:50468508-50468508;G/C missense_variant False CHAF1B@p.R238H 1 0.111111111 ENSG00000159259 chr21:36402807-36402807;G/A missense_variant False CHAF1B@p.R546T 1 0.428571429 ENSG00000159259 chr21:36416323-36416323;G/C missense_variant False CHAMP1@p.P185L 1 0.218446602 ENSG00000198824 chr13:114324396-114324396;C/T missense_variant False CHAMP1@p.P201S 1 0.444954128 ENSG00000198824 chr13:114324443-114324443;C/T missense_variant False CHAMP1@p.S243L 1 0.37037037 ENSG00000198824 chr13:114324570-114324570;C/T missense_variant False CHAMP1@p.S443L 1 0.32034632 ENSG00000198824 chr13:114325170-114325170;C/T missense_variant False CHAT@p.E729K 1 0.473282443 ENSG00000070748 chr10:49664984-49664984;G/A missense_variant False CHAT@p.Q492E 1 0.171875 ENSG00000070748 chr10:49649599-49649599;C/G missense_variant False CHCHD10@p.E127Q 1 0.136363636 ENSG00000250479 chr22:23766158-23766158;C/G missense_variant False CHCHD1@p.A2T 1 0.468085106 ENSG00000172586 chr10:73782079-73782079;G/A missense_variant False CHCHD1@p.R84Q 1 0.446540881 ENSG00000172586 chr10:73783081-73783081;G/A missense_variant False CHCHD2@p.R6L 1 0.105263158 ENSG00000106153 chr7:56106397-56106397;C/A missense_variant False CHCHD7@p.E75Q 1 0.177419355 ENSG00000170791 chr8:56217400-56217400;G/C missense_variant False CHCHD7@p.Q6K 1 0.056818182 ENSG00000170791 chr8:56214629-56214629;C/A missense_variant False CHD1@p.A876G 1 0.133333333 ENSG00000153922 chr5:98883179-98883179;G/C missense_variant False CHD1@p.D1099Y 1 0.056603774 ENSG00000153922 chr5:98876501-98876501;C/A missense_variant False CHD1@p.D228G 1 0.414634146 ENSG00000153922 chr5:98900987-98900987;T/C missense_variant False CHD3@p.I572M 1 0.169230769 ENSG00000170004 chr17:7897091-7897091;C/G missense_variant False CHD3@p.K1385N 1 0.260869565 ENSG00000170004 chr17:7905637-7905637;G/C missense_variant False CHD3@p.K357N 1 0.183333333 ENSG00000170004 chr17:7894261-7894261;G/T missense_variant False CHD6@p.E755Q 1 0.214285714 ENSG00000124177 chr20:41483514-41483514;C/G missense_variant False CHD6@p.K2572N 1 0.286219081 ENSG00000124177 chr20:41405025-41405025;C/G missense_variant False CHD6@p.K1554T 1 0.111111111 ENSG00000124177 chr20:41421974-41421974;T/G missense_variant False CHD6@p.G510V 1 0.17721519 ENSG00000124177 chr20:41489929-41489929;C/A missense_variant False CHD6@p.G2620V 1 0.180555556 ENSG00000124177 chr20:41404882-41404882;C/A missense_variant False CHD6@p.G2394A 1 0.144578313 ENSG00000124177 chr20:41412214-41412214;C/G missense_variant False CHD6@p.F568L 1 0.235849057 ENSG00000124177 chr20:41488581-41488581;G/C missense_variant False CHD6@p.E165K 1 0.196581197 ENSG00000124177 chr20:41533111-41533111;C/T missense_variant False CHD5@p.R584H 1 0.242105263 ENSG00000116254 chr1:6146263-6146263;C/T missense_variant False CHD6@p.D769N 1 0.421052632 ENSG00000124177 chr20:41483472-41483472;C/T missense_variant False CHD6@p.D1910H 1 0.368421053 ENSG00000124177 chr20:41420907-41420907;C/G missense_variant False CHD5@p.V778I 1 0.226190476 ENSG00000116254 chr1:6142232-6142232;C/T missense_variant False CHD5@p.V187I 1 0.596899225 ENSG00000116254 chr1:6154846-6154846;C/T missense_variant False CHD5@p.T732A 1 0.324324324 ENSG00000116254 chr1:6142455-6142455;T/C missense_variant False CHD5@p.T1815M 1 0.621621622 ENSG00000116254 chr1:6109929-6109929;G/A missense_variant False CHD6@p.L2362I 1 0.338028169 ENSG00000124177 chr20:41413371-41413371;G/T missense_variant False CHD6@p.M1235I 1 0.070351759 ENSG00000124177 chr20:41447950-41447950;C/T missense_variant False CHD6@p.P1896T 1 0.493975904 ENSG00000124177 chr20:41420949-41420949;G/T missense_variant False CHD6@p.Q1647E 1 0.302325581 ENSG00000124177 chr20:41421696-41421696;G/C missense_variant False CHD6@p.Q58H 1 0.258823529 ENSG00000124177 chr20:41533430-41533430;C/G missense_variant False CHD6@p.R1399T 1 0.095238095 ENSG00000124177 chr20:41425328-41425328;C/G missense_variant False CHD6@p.R2035T 1 0.163793103 ENSG00000124177 chr20:41420531-41420531;C/G missense_variant False CHD6@p.S2220C 1 0.333333333 ENSG00000124177 chr20:41415466-41415466;G/C missense_variant False CHD6@p.S2337L 1 0.19047619 ENSG00000124177 chr20:41413445-41413445;G/A missense_variant False CHD6@p.S879C 1 0.387096774 ENSG00000124177 chr20:41473350-41473350;G/C missense_variant False CHD6@p.V1462M 1 0.072164948 ENSG00000124177 chr20:41423663-41423663;C/T missense_variant False CHD7@p.D1358N 1 0.201438849 ENSG00000171316 chr8:60836899-60836899;G/A missense_variant False CHD7@p.D2119N 1 0.526315789 ENSG00000171316 chr8:60853080-60853080;G/A missense_variant False CHD7@p.E1085Q 1 0.159090909 ENSG00000171316 chr8:60823891-60823891;G/C missense_variant False CHD7@p.E12K 1 0.64 ENSG00000171316 chr8:60741466-60741466;G/A missense_variant False CHD7@p.E1580K 1 0.217391304 ENSG00000171316 chr8:60841940-60841940;G/A missense_variant False CHD7@p.E2575Q 1 0.25 ENSG00000171316 chr8:60861018-60861018;G/C missense_variant False CHD5@p.S165N 1 0.369565217 ENSG00000116254 chr1:6155611-6155611;C/T missense_variant False CHD5@p.R1136H 1 0.204545455 ENSG00000116254 chr1:6129050-6129050;C/T missense_variant False CHD3@p.K48N 1 0.333333333 ENSG00000170004 chr17:7889707-7889707;G/C missense_variant False CHD4@p.E1358Q 1 0.212962963 ENSG00000111642 chr12:6583063-6583063;C/G missense_variant False CHD4@p.E579K 1 0.06284153 ENSG00000111642 chr12:6598012-6598012;C/T missense_variant False CHD4@p.E527K 1 0.534296029 ENSG00000111642 chr12:6598290-6598290;C/T missense_variant False CHD4@p.E412Q 1 0.225274725 ENSG00000111642 chr12:6599982-6599982;C/G missense_variant False CHD4@p.E1765Q 1 0.075268817 ENSG00000111642 chr12:6577820-6577820;C/G missense_variant False CHD4@p.E1510Q 1 0.35106383 ENSG00000111642 chr12:6581763-6581763;C/G missense_variant False CHD4@p.E1456Q 1 0.150684932 ENSG00000111642 chr12:6582247-6582247;C/G missense_variant False CHD4@p.E1286Q 1 0.197247706 ENSG00000111642 chr12:6583363-6583363;C/G missense_variant False CHD5@p.P1632A 1 0.25 ENSG00000116254 chr1:6121123-6121123;G/C missense_variant False CHD4@p.D373N 1 0.046511628 ENSG00000111642 chr12:6600303-6600303;C/T missense_variant False CHD4@p.D373H 1 0.10989011 ENSG00000111642 chr12:6600303-6600303;C/G missense_variant False CHD3@p.V7M 1 0.746478873 ENSG00000170004 chr17:7889019-7889019;G/A missense_variant False CHD3@p.P1479R 1 0.595238095 ENSG00000170004 chr17:7906630-7906630;C/G missense_variant False CHD3@p.M1788K 1 0.3125 ENSG00000170004 chr17:7908798-7908798;T/A missense_variant False CHD3@p.L1571V 1 0.23943662 ENSG00000170004 chr17:7907170-7907170;C/G missense_variant False CHD4@p.E739K 1 0.2 ENSG00000111642 chr12:6594518-6594518;C/T missense_variant False CHD4@p.L1320V 1 0.334558824 ENSG00000111642 chr12:6583261-6583261;G/C missense_variant False CHD4@p.L1778V 1 0.428571429 ENSG00000111642 chr12:6573266-6573266;A/C missense_variant False CHD4@p.L485V 1 0.155462185 ENSG00000111642 chr12:6598416-6598416;G/C missense_variant False CHD4@p.P1374L 1 0.159663866 ENSG00000111642 chr12:6582924-6582924;G/A missense_variant False CHD4@p.P1528A 1 0.230769231 ENSG00000111642 chr12:6581709-6581709;G/C missense_variant False CHD4@p.R1867Q 1 0.126436782 ENSG00000111642 chr12:6570960-6570960;C/T missense_variant False CHD4@p.R305H 1 0.471428571 ENSG00000111642 chr12:6600939-6600939;C/T missense_variant False CHD4@p.R987P 1 0.181818182 ENSG00000111642 chr12:6592007-6592007;C/G missense_variant False CHD4@p.S772C 1 0.20952381 ENSG00000111642 chr12:6593576-6593576;G/C missense_variant False CHD4@p.Y561Sfs*43 1 0.267175573 ENSG00000111642 chr12:6598063-6598066;GATA/- frameshift_variant False CHD5@p.D1580V 1 0.380952381 ENSG00000116254 chr1:6121534-6121534;T/A missense_variant False CHD5@p.E1061Q 1 0.227272727 ENSG00000116254 chr1:6131712-6131712;C/G missense_variant False CHD5@p.E1371K 1 0.551724138 ENSG00000116254 chr1:6125826-6125826;C/T missense_variant False CHD5@p.E1615K 1 0.25 ENSG00000116254 chr1:6121174-6121174;C/T missense_variant False CHD5@p.E792Q 1 0.32038835 ENSG00000116254 chr1:6142190-6142190;C/G missense_variant False CHD5@p.E794K 1 0.364779874 ENSG00000116254 chr1:6142184-6142184;C/T missense_variant False CHAC2@p.L164V 1 0.114754098 ENSG00000143942 chr2:53774460-53774460;C/G missense_variant False CHAC2@p.D114H 1 0.253968254 ENSG00000143942 chr2:53774310-53774310;G/C missense_variant False CHAC1@p.N9I 1 0.202020202 ENSG00000128965 chr15:40953609-40953609;A/T missense_variant False CFAP91@p.K454N 1 0.356164384 ENSG00000183833 chr3:119737383-119737383;G/C missense_variant False CFAP94@p.H579Y 1 0.263157895 None chr12:25111798-25111798;G/A missense_variant False CFAP94@p.E449K 1 0.120689655 None chr12:25119178-25119178;C/T missense_variant False CFAP92@p.E56Q 1 0.301886792 ENSG00000114656 chr3:128993139-128993139;C/G missense_variant False CFAP92@p.D32N 1 0.224489796 ENSG00000114656 chr3:128993211-128993211;C/T missense_variant False CFAP92@p.A39V 1 0.383838384 ENSG00000114656 chr3:128993189-128993189;G/A missense_variant False CFAP91@p.P464Lfs*21 1 0.166666667 ENSG00000183833 chr3:119737408-119737408;C/- frameshift_variant False CFAP91@p.K349N 1 0.136363636 ENSG00000183833 chr3:119732322-119732322;G/C missense_variant False CFAP74@p.V1424M 1 0.589285714 ENSG00000142609 chr1:1923894-1923894;C/T missense_variant False CFAP91@p.E758K 1 0.207317073 ENSG00000183833 chr3:119751065-119751065;G/A missense_variant False CFAP91@p.E666K 1 0.191176471 ENSG00000183833 chr3:119747208-119747208;G/A missense_variant False CFAP91@p.E218K 1 0.234567901 ENSG00000183833 chr3:119715713-119715713;G/A missense_variant False CFAP91@p.E130Q 1 0.259259259 ENSG00000183833 chr3:119708619-119708619;G/C missense_variant False CFAP77@p.W273S 1 0.24137931 ENSG00000188523 chr9:132543025-132543025;G/C missense_variant False CFAP77@p.Q188H 1 0.220930233 ENSG00000188523 chr9:132499532-132499532;G/T missense_variant False CFAP94@p.L178V 1 0.22 None chr12:25149663-25149663;G/C missense_variant False CFAP94@p.L492F 1 0.295081967 None chr12:25114773-25114773;C/G missense_variant False CFAP94@p.R649T 1 0.178571429 None chr12:25108753-25108753;C/G missense_variant False CFAP94@p.S702C 1 0.571428571 None chr12:25108594-25108594;G/C missense_variant False CFAP94@p.T557I 1 0.113924051 None chr12:25111863-25111863;G/A missense_variant False CFAP97@p.D250Y 1 0.518518519 ENSG00000164323 chr4:185190449-185190449;C/A missense_variant False CFAP97@p.S155C 1 0.347826087 ENSG00000164323 chr4:185190733-185190733;G/C missense_variant False CFC1@p.N52K 1 0.175824176 ENSG00000136698 chr2:130598733-130598733;G/T missense_variant False CFD@p.R99P 1 0.461538462 ENSG00000197766 chr19:860944-860944;G/C missense_variant False CFH@p.A468D 1 0.289156627 ENSG00000000971 chr1:196713801-196713801;C/A missense_variant False CFH@p.C267Y 1 0.5 ENSG00000000971 chr1:196685073-196685073;G/A missense_variant False CFH@p.E23A 1 0.311111111 ENSG00000000971 chr1:196672987-196672987;A/C missense_variant False CFH@p.G366R 1 0.03960396 ENSG00000000971 chr1:196689551-196689551;G/A missense_variant False CFH@p.G786V 1 0.263157895 ENSG00000000971 chr1:196728466-196728466;G/T missense_variant False CFH@p.G795A 1 0.072580645 ENSG00000000971 chr1:196728493-196728493;G/C missense_variant False CFH@p.G89A 1 0.059027778 ENSG00000000971 chr1:196673878-196673878;G/C missense_variant False CFH@p.S596Y 1 0.137254902 ENSG00000000971 chr1:196725211-196725211;C/A missense_variant False CFAP77@p.D189Y 1 0.211764706 ENSG00000188523 chr9:132499533-132499533;G/T missense_variant False CFAP74@p.S573L 1 0.292307692 ENSG00000142609 chr1:1960007-1960007;G/A missense_variant False CFH@p.T447I 1 0.285714286 ENSG00000000971 chr1:196713738-196713738;C/T missense_variant False CFAP65@p.E1840Q 1 0.076388889 ENSG00000181378 chr2:219003989-219003989;C/G missense_variant False CFAP65@p.S1429C 1 0.272727273 ENSG00000181378 chr2:219010568-219010568;G/C missense_variant False CFAP65@p.R904H 1 0.178571429 ENSG00000181378 chr2:219023316-219023316;C/T missense_variant False CFAP65@p.M110I 1 0.24 ENSG00000181378 chr2:219038402-219038402;C/T missense_variant False CFAP65@p.H129Y 1 0.783505155 ENSG00000181378 chr2:219035637-219035637;G/A missense_variant False CFAP65@p.G159A 1 0.746031746 ENSG00000181378 chr2:219035546-219035546;C/G missense_variant False CFAP65@p.F636L 1 0.781818182 ENSG00000181378 chr2:219027953-219027953;G/T missense_variant False CFAP65@p.E1797del 1 0.142857143 ENSG00000181378 chr2:219004116-219004118;CTC/- inframe_deletion False CFAP74@p.K1573N 1 0.195121951 ENSG00000142609 chr1:1922323-1922323;C/A missense_variant False CFAP65@p.D260N 1 0.111111111 ENSG00000181378 chr2:219031526-219031526;C/T missense_variant False CFAP65@p.C352Y 1 0.178571429 ENSG00000181378 chr2:219030795-219030795;C/T missense_variant False CFAP61@p.Y588D 1 0.247058824 ENSG00000089101 chr20:20196741-20196741;T/G missense_variant False CFAP61@p.R18T 1 0.111111111 ENSG00000089101 chr20:20056706-20056706;G/C missense_variant False CFAP61@p.P181A 1 0.105633803 ENSG00000089101 chr20:20075590-20075590;C/G missense_variant False CFAP61@p.L196F 1 0.584677419 ENSG00000089101 chr20:20090863-20090863;C/T missense_variant False CFAP65@p.S1509F 1 0.733333333 ENSG00000181378 chr2:219009387-219009387;G/A missense_variant False CFAP65@p.S408L 1 0.186440678 ENSG00000181378 chr2:219030147-219030147;G/A missense_variant False CFAP65@p.T1167S 1 0.360655738 ENSG00000181378 chr2:219019153-219019153;G/C missense_variant False CFAP69@p.D501H 1 0.403846154 ENSG00000105792 chr7:90283020-90283020;G/C missense_variant False CFAP69@p.E857Q 1 0.063829787 ENSG00000105792 chr7:90309281-90309281;G/C missense_variant False CFAP69@p.M148I 1 0.235294118 ENSG00000105792 chr7:90268296-90268296;G/A missense_variant False CFAP69@p.Q189E 1 0.1953125 ENSG00000105792 chr7:90271558-90271558;C/G missense_variant False CFAP70@p.E148K 1 0.132075472 ENSG00000156042 chr10:73345232-73345232;C/T missense_variant False CFAP70@p.E222Q 1 0.135416667 ENSG00000156042 chr10:73341527-73341527;C/G missense_variant False CFAP70@p.E484Q 1 0.060150376 ENSG00000156042 chr10:73310174-73310174;C/G missense_variant False CFAP70@p.E649Q 1 0.219512195 ENSG00000156042 chr10:73293298-73293298;C/G missense_variant False CFAP70@p.E723Q 1 0.348837209 ENSG00000156042 chr10:73291703-73291703;C/G missense_variant False CFAP70@p.Q508H 1 0.256410256 ENSG00000156042 chr10:73299608-73299608;C/G missense_variant False CFAP70@p.S1120C 1 0.208695652 ENSG00000156042 chr10:73253982-73253982;G/C missense_variant False CFAP70@p.S51Y 1 0.483870968 ENSG00000156042 chr10:73353654-73353654;G/T missense_variant False CFAP70@p.S839L 1 0.175 ENSG00000156042 chr10:73278271-73278271;G/A missense_variant False CFAP74@p.D1446Y 1 0.289940828 ENSG00000142609 chr1:1923828-1923828;C/A missense_variant False CFH@p.S720L 1 0.107142857 ENSG00000000971 chr1:196726863-196726863;C/T missense_variant False CFH@p.V592L 1 0.34 ENSG00000000971 chr1:196725198-196725198;G/T missense_variant False CH25H@p.V99M 1 0.275862069 ENSG00000138135 chr10:89206998-89206998;C/T missense_variant False CFTR@p.Y380C 1 0.533333333 ENSG00000001626 chr7:117542038-117542038;A/G missense_variant False CGB5@p.P133H 1 0.571428571 ENSG00000196337 chr19:49045194-49045194;C/A missense_variant False CGB5@p.D159E 1 0.141025641 ENSG00000196337 chr19:49045273-49045273;C/A missense_variant False CGB3@p.R153L 1 0.563829787 ENSG00000213030 chr19:49022926-49022926;C/A missense_variant False CGAS@p.R339H 1 0.163265306 ENSG00000164430 chr6:73440307-73440307;C/T missense_variant False CGAS@p.G16E 1 0.4 ENSG00000164430 chr6:73452135-73452135;C/T missense_variant False CGA@p.P32A 1 0.3 ENSG00000135346 chr6:87086429-87086429;G/C missense_variant False CFTR@p.V171F 1 0.170731707 ENSG00000001626 chr7:117534297-117534297;G/T missense_variant False CFTR@p.G1247A 1 0.076923077 ENSG00000001626 chr7:117642460-117642460;G/C missense_variant False CFTR@p.S712F 1 0.261904762 ENSG00000001626 chr7:117592302-117592302;C/T missense_variant False CFTR@p.S1255L 1 0.322033898 ENSG00000001626 chr7:117642484-117642484;C/T missense_variant False CFTR@p.M721I 1 0.21875 ENSG00000001626 chr7:117592330-117592330;G/A missense_variant False CFTR@p.L987P 1 0.071770335 ENSG00000001626 chr7:117606725-117606725;T/C missense_variant False CFTR@p.L889V 1 0.237288136 ENSG00000001626 chr7:117603539-117603539;C/G missense_variant False CFTR@p.L644P 1 0.219298246 ENSG00000001626 chr7:117592098-117592098;T/C missense_variant False CGB5@p.S138F 1 0.146551724 ENSG00000196337 chr19:49045209-49045209;C/T missense_variant False CGB8@p.F4C 1 0.407665505 ENSG00000213030 chr19:49048729-49048729;A/C missense_variant False CGGBP1@p.D122N 1 0.272727273 ENSG00000163320 chr3:88055613-88055613;C/T missense_variant False CGGBP1@p.E75K 1 0.110294118 ENSG00000163320 chr3:88055754-88055754;C/T missense_variant False CGN@p.E1038K 1 0.204545455 ENSG00000143375 chr1:151535813-151535813;G/A missense_variant False CGN@p.Q389E 1 0.542713568 ENSG00000143375 chr1:151523458-151523458;C/G missense_variant False CGN@p.S1151C 1 0.135135135 ENSG00000143375 chr1:151536875-151536875;C/G missense_variant False CGNL1@p.A22T 1 0.273722628 ENSG00000128849 chr15:57438063-57438063;G/A missense_variant False CGNL1@p.A862V 1 0.341463415 ENSG00000128849 chr15:57516961-57516961;C/T missense_variant False CGNL1@p.E406Q 1 0.503401361 ENSG00000128849 chr15:57439215-57439215;G/C missense_variant False CGNL1@p.E674K 1 0.537037037 ENSG00000128849 chr15:57452255-57452255;G/A missense_variant False CGNL1@p.P336A 1 0.527777778 ENSG00000128849 chr15:57439005-57439005;C/G missense_variant False CGNL1@p.S92C 1 0.2 ENSG00000128849 chr15:57438274-57438274;C/G missense_variant False CGRRF1@p.D157Y 1 0.464285714 ENSG00000100532 chr14:54530949-54530949;G/T missense_variant False CGRRF1@p.E245K 1 0.138461538 ENSG00000100532 chr14:54538117-54538117;G/A missense_variant False CGRRF1@p.V32A 1 0.5 ENSG00000100532 chr14:54510054-54510054;T/C missense_variant False CH25H@p.S78L 1 0.454545455 ENSG00000138135 chr10:89207060-89207060;G/A missense_variant False CFTR@p.L130V 1 0.4 ENSG00000001626 chr7:117531013-117531013;C/G missense_variant False CFTR@p.F932L 1 0.426229508 ENSG00000001626 chr7:117603670-117603670;C/A missense_variant False CFHR1@p.E234K 1 0.237804878 ENSG00000244414 chr1:196830592-196830592;G/A missense_variant False CFHR2@p.T47I 1 0.127906977 ENSG00000080910 chr1:196949536-196949536;C/T missense_variant False CFHR4@p.G64E 1 0.401639344 ENSG00000134365 chr1:196902553-196902553;G/A missense_variant False CFHR4@p.E401Q 1 0.096385542 ENSG00000134365 chr1:196914518-196914518;G/C missense_variant False CFHR4@p.D442N 1 0.211267606 ENSG00000134365 chr1:196914641-196914641;G/A missense_variant False CFHR3@p.V127I 1 0.272727273 ENSG00000116785 chr1:196779922-196779922;G/A missense_variant False CFHR3@p.V105A 1 0.087719298 ENSG00000116785 chr1:196779857-196779857;T/C missense_variant False CFHR3@p.S223del 1 0.237288136 ENSG00000116785 chr1:196790096-196790098;CCT/- inframe_deletion False CFHR2@p.R232I 1 0.358208955 ENSG00000080910 chr1:196958962-196958962;G/T missense_variant False CFTR@p.E822K 1 0.265306122 ENSG00000001626 chr7:117592631-117592631;G/A missense_variant False CFHR2@p.R132W 1 0.614754098 ENSG00000080910 chr1:196950992-196950992;C/T missense_variant False CFHR2@p.I213T 1 0.214285714 ENSG00000080910 chr1:196958905-196958905;T/C missense_variant False CFHR2@p.E269K 1 0.178082192 ENSG00000080910 chr1:196959072-196959072;G/A missense_variant False CFHR2@p.E185Q 1 0.127388535 ENSG00000080910 chr1:196958013-196958013;G/C missense_variant False CFHR1@p.S168F 1 0.4 ENSG00000244414 chr1:196828142-196828142;C/T missense_variant False CFHR1@p.E75Q 1 0.294117647 ENSG00000244414 chr1:196825641-196825641;G/C missense_variant False CFHR4@p.I512L 1 0.202898551 ENSG00000134365 chr1:196915135-196915135;A/T missense_variant False CFHR4@p.Q528L 1 0.097560976 ENSG00000134365 chr1:196918255-196918255;A/T missense_variant False CFHR5@p.A547V 1 0.379310345 ENSG00000134389 chr1:197008613-197008613;C/T missense_variant False CFHR5@p.A556T 1 0.074074074 ENSG00000134389 chr1:197008639-197008639;G/A missense_variant False CFHR5@p.E74K 1 0.641975309 ENSG00000134389 chr1:196983046-196983046;G/A missense_variant False CFHR5@p.H229R 1 0.192982456 ENSG00000134389 chr1:196995795-196995795;A/G missense_variant False CFHR5@p.N352S 1 0.1875 ENSG00000134389 chr1:196998212-196998212;A/G missense_variant False CFHR5@p.N376K 1 0.285714286 ENSG00000134389 chr1:196998285-196998285;T/A missense_variant False CFI@p.G526E 1 0.442307692 ENSG00000205403 chr4:109741068-109741068;C/T missense_variant False CFL1@p.K92E 1 0.154545455 ENSG00000172757 chr11:65855972-65855972;T/C missense_variant False CFL2@p.D62H 1 0.446428571 ENSG00000165410 chr14:34713381-34713381;C/G missense_variant False CFL2@p.D66N 1 0.1 ENSG00000165410 chr14:34713369-34713369;C/T missense_variant False CFLAR@p.E137K 1 0.165745856 ENSG00000003402 chr2:201135993-201135993;G/A missense_variant False CFLAR@p.V311I 1 0.201492537 ENSG00000003402 chr2:201160569-201160569;G/A missense_variant False CFP@p.R346H 1 0.358974359 ENSG00000126759 chrX:47626423-47626423;C/T missense_variant False CFTR@p.D565H 1 0.229885057 ENSG00000001626 chr7:117590366-117590366;G/C missense_variant False CFTR@p.E1433Q 1 0.179487179 ENSG00000001626 chr7:117666962-117666962;G/C missense_variant False CHD7@p.G1014E 1 0.064846416 ENSG00000171316 chr8:60822586-60822586;G/A missense_variant False CHD7@p.K617E 1 0.5 ENSG00000171316 chr8:60781183-60781183;A/G missense_variant False CHSY1@p.E555Q 1 0.21875 ENSG00000131873 chr15:101178134-101178134;C/G missense_variant False CHRFAM7A@p.D231N 1 0.130434783 ENSG00000166664 chr15:30367447-30367447;C/T missense_variant False CHRM2@p.S433R 1 0.408450704 ENSG00000181072 chr7:137016164-137016164;C/A missense_variant False CHRM2@p.S311T 1 0.307142857 ENSG00000181072 chr7:137015796-137015796;T/A missense_variant False CHRM2@p.Q352E 1 0.277777778 ENSG00000181072 chr7:137015919-137015919;C/G missense_variant False CHRM2@p.F181L 1 0.476190476 ENSG00000181072 chr7:137015408-137015408;T/A missense_variant False CHRM1@p.R336Q 1 0.464285714 ENSG00000168539 chr11:62910094-62910094;C/T missense_variant False CHRM1@p.R261H 1 0.350515464 ENSG00000168539 chr11:62910319-62910319;C/T missense_variant False CHRDL2@p.P101L 1 0.078947368 ENSG00000054938 chr11:74710979-74710979;G/A missense_variant False CHRM3@p.R584H 1 0.1875 ENSG00000133019 chr1:239909202-239909202;G/A missense_variant False CHRDL2@p.H99D 1 0.12 ENSG00000054938 chr11:74710986-74710986;G/C missense_variant False CHRDL2@p.A106T 1 0.166666667 ENSG00000054938 chr11:74710965-74710965;C/T missense_variant False CHRDL1@p.L121P 1 0.567567568 ENSG00000101938 chrX:110721449-110721449;A/G missense_variant False CHRDL1@p.E415K 1 0.288461538 ENSG00000101938 chrX:110676341-110676341;C/T missense_variant False CHRDL1@p.D184H 1 0.169811321 ENSG00000101938 chrX:110700692-110700692;C/G missense_variant False CHRD@p.S605L 1 0.21686747 ENSG00000090539 chr3:184385234-184385234;C/T missense_variant False CHRM3@p.R306K 1 0.16 ENSG00000133019 chr1:239908368-239908368;G/A missense_variant False CHRM3@p.S441F 1 0.6 ENSG00000133019 chr1:239908773-239908773;C/T missense_variant False CHD7@p.L1371V 1 0.265151515 ENSG00000171316 chr8:60836938-60836938;T/G missense_variant False CHRNA2@p.I270M 1 0.392156863 ENSG00000120903 chr8:27463633-27463633;G/C missense_variant False CHRNA4@p.D164N 1 0.376237624 ENSG00000101204 chr20:63350921-63350921;C/T missense_variant False CHRNA3@p.I187M 1 0.369230769 ENSG00000080644 chr15:78602081-78602081;G/C missense_variant False CHRNA2@p.V344A 1 0.15 ENSG00000120903 chr8:27463412-27463412;A/G missense_variant False CHRNA2@p.P383R 1 0.258064516 ENSG00000120903 chr8:27463295-27463295;G/C missense_variant False CHRNA2@p.L505F 1 0.118644068 ENSG00000120903 chr8:27461706-27461706;G/A missense_variant False CHRNA2@p.I328_L333del 1 0.12195122 ENSG00000120903 chr8:27463445-27463462;AGCAGGTACTCGCCGATG/- inframe_deletion False CHRNA1@p.L324R 1 0.083333333 ENSG00000138435 chr2:174750052-174750052;A/C missense_variant False CHRM3@p.Y507F 1 0.245614035 ENSG00000133019 chr1:239908971-239908971;A/T missense_variant False CHRNA1@p.F259L 1 0.517006803 ENSG00000138435 chr2:174753579-174753579;G/T missense_variant False CHRNA10@p.E364K 1 0.391304348 ENSG00000129749 chr11:3666370-3666370;C/T missense_variant False CHRM5@p.T415M 1 0.16 ENSG00000184984 chr15:34063961-34063961;C/T missense_variant False CHRM5@p.S304C 1 0.157894737 ENSG00000184984 chr15:34063627-34063627;A/T missense_variant False CHRM4@p.V91A 1 0.150684932 ENSG00000180720 chr11:46386286-46386286;A/G missense_variant False CHRM4@p.A378T 1 0.61627907 ENSG00000180720 chr11:46385426-46385426;C/T missense_variant False CHRD@p.S214L 1 0.413793103 ENSG00000090539 chr3:184381962-184381962;C/T missense_variant False CHRD@p.S190L 1 0.325581395 ENSG00000090539 chr3:184381773-184381773;C/T missense_variant False CHRD@p.R943K 1 0.333333333 ENSG00000090539 chr3:184389382-184389382;G/A missense_variant False CHORDC1@p.D112G 1 0.381355932 ENSG00000110172 chr11:90211313-90211313;T/C missense_variant False CHPF2@p.E162Q 1 0.129032258 ENSG00000033100 chr7:151235268-151235268;G/C missense_variant False CHP2@p.R141C 1 0.534883721 ENSG00000166869 chr16:23757207-23757207;C/T missense_variant False CHP1@p.L46V 1 0.291666667 ENSG00000187446 chr15:41243735-41243735;C/G missense_variant False CHORDC1@p.R305K 1 0.365079365 ENSG00000110172 chr11:90202490-90202490;C/T missense_variant False CHORDC1@p.P252S 1 0.397727273 ENSG00000110172 chr11:90203343-90203343;G/A missense_variant False CHORDC1@p.D222H 1 0.326086957 ENSG00000110172 chr11:90205465-90205465;C/G missense_variant False CHODL@p.S257C 1 0.168831169 ENSG00000154645 chr21:18265986-18265986;C/G missense_variant False CHRD@p.P724L 1 0.413793103 ENSG00000090539 chr3:184386730-184386730;C/T missense_variant False CHODL@p.L195V 1 0.363636364 ENSG00000154645 chr21:18260235-18260235;C/G missense_variant False CHN1@p.E449Q 1 0.431818182 ENSG00000128656 chr2:174800151-174800151;C/G missense_variant False CHN1@p.E324K 1 0.214285714 ENSG00000128656 chr2:174809037-174809037;C/T missense_variant False CHN1@p.D172Y 1 0.2 ENSG00000128656 chr2:174877875-174877875;C/A missense_variant False CHMP7@p.S170L 1 0.223684211 ENSG00000147457 chr8:23255284-23255284;C/T missense_variant False CHMP7@p.R290W 1 0.221153846 ENSG00000147457 chr8:23258357-23258357;C/T missense_variant False CHPF2@p.E533K 1 0.283333333 ENSG00000033100 chr7:151237959-151237959;G/A missense_variant False CHPF2@p.M609I 1 0.219512195 ENSG00000033100 chr7:151238189-151238189;G/A missense_variant False CHPF2@p.P307S 1 0.361111111 ENSG00000033100 chr7:151236498-151236498;C/T missense_variant False CHPF2@p.R191H 1 0.275280899 ENSG00000033100 chr7:151235356-151235356;G/A missense_variant False CHPF@p.D191N 1 0.375 ENSG00000123989 chr2:219541933-219541933;C/T missense_variant False CHPF@p.D456N 1 0.149425287 ENSG00000123989 chr2:219540345-219540345;C/T missense_variant False CHPF@p.F150C 1 0.333333333 ENSG00000123989 chr2:219542055-219542055;A/C missense_variant False CHPF@p.F196Lfs*12 1 0.310344828 ENSG00000123989 chr2:219541901-219541916;GGTGTCAGGCACCAGG/- frameshift_variant False CHPF@p.F639L 1 0.421686747 ENSG00000123989 chr2:219539794-219539794;G/C missense_variant False CHPT1@p.A174T 1 0.264367816 ENSG00000111666 chr12:101714602-101714602;G/A missense_variant False CHPT1@p.L184F 1 0.202020202 ENSG00000111666 chr12:101714634-101714634;G/C missense_variant False CHPT1@p.R119K 1 0.285 ENSG00000111666 chr12:101714172-101714172;G/A missense_variant False CHPT1@p.R152G 1 0.044444444 ENSG00000111666 chr12:101714536-101714536;C/G missense_variant False CHPT1@p.R28L 1 0.555555556 ENSG00000111666 chr12:101697944-101697944;G/T missense_variant False CHPT1@p.S123F 1 0.284671533 ENSG00000111666 chr12:101714184-101714184;C/T missense_variant False CHRAC1@p.G64C 1 0.657894737 ENSG00000104472 chr8:140514411-140514411;G/T missense_variant False CHRD@p.G861E 1 0.215686275 ENSG00000090539 chr3:184388614-184388614;G/A missense_variant False CHRNA4@p.E37K 1 0.25 ENSG00000101204 chr20:63359667-63359667;C/T missense_variant False CHRNA4@p.R485W 1 0.285714286 ENSG00000101204 chr20:63349958-63349958;G/A missense_variant False CHRNA4@p.S300L 1 0.253521127 ENSG00000101204 chr20:63350512-63350512;G/A missense_variant False CHST15@p.H29D 1 0.166666667 ENSG00000182022 chr10:124046128-124046128;G/C missense_variant False CHST4@p.D352N 1 0.163043478 ENSG00000140835 chr16:71537731-71537731;G/A missense_variant False CHST2@p.T405A 1 0.057471264 ENSG00000175040 chr3:143122029-143122029;A/G missense_variant False CHST1@p.S242L 1 0.426470588 ENSG00000175264 chr11:45650199-45650199;G/A missense_variant False CHST1@p.D131N 1 0.466216216 ENSG00000175264 chr11:45650533-45650533;C/T missense_variant False CHST15@p.Y308S 1 0.567567568 ENSG00000182022 chr10:124042411-124042411;T/G missense_variant False CHST15@p.K410N 1 0.111111111 ENSG00000182022 chr10:124021373-124021373;T/A missense_variant False CHST15@p.D553N 1 0.14893617 ENSG00000182022 chr10:124010178-124010178;C/T missense_variant False CHRNG@p.G380V 1 0.4453125 ENSG00000196811 chr2:232544470-232544470;G/T missense_variant False CHST15@p.D414N 1 0.528301887 ENSG00000182022 chr10:124021363-124021363;C/T missense_variant False CHST15@p.A357D 1 0.171875 ENSG00000182022 chr10:124038635-124038635;G/T missense_variant False CHST14@p.R231Q 1 0.299363057 ENSG00000169105 chr15:40471905-40471905;G/A missense_variant False CHST14@p.P316S 1 0.304761905 ENSG00000169105 chr15:40472159-40472159;C/T missense_variant False CHST13@p.A140V 1 0.2 ENSG00000180767 chr3:126541971-126541971;C/T missense_variant False CHST11@p.F189S 1 0.307692308 ENSG00000171310 chr12:104757310-104757310;T/C missense_variant False CHST4@p.E365Q 1 0.166666667 ENSG00000140835 chr16:71537770-71537770;G/C missense_variant False CHST4@p.P160S 1 0.4 ENSG00000140835 chr16:71537155-71537155;C/T missense_variant False CHST5@p.D258Y 1 0.367816092 ENSG00000135702 chr16:75529613-75529613;C/A missense_variant False CHST6@p.R316H 1 0.43956044 ENSG00000183196 chr16:75478882-75478882;C/T missense_variant False CHST7@p.D145N 1 0.672413793 ENSG00000147119 chrX:46574364-46574364;G/A missense_variant False CHST7@p.P174L 1 0.138888889 ENSG00000147119 chrX:46574452-46574452;C/T missense_variant False CHST8@p.E310K 1 0.166666667 ENSG00000124302 chr19:33772716-33772716;G/A missense_variant False CHST8@p.F261L 1 0.08203125 ENSG00000124302 chr19:33772571-33772571;C/G missense_variant False CHST8@p.F311L 1 0.428571429 ENSG00000124302 chr19:33772721-33772721;C/A missense_variant False CHST8@p.I17N 1 0.16374269 ENSG00000124302 chr19:33689311-33689311;T/A missense_variant False CHST8@p.S63F 1 0.236842105 ENSG00000124302 chr19:33771976-33771976;C/T missense_variant False CHST9@p.D427N 1 0.364705882 ENSG00000154080 chr18:26916312-26916312;C/T missense_variant False CHST9@p.G138A 1 0.171296296 ENSG00000154080 chr18:26917178-26917178;C/G missense_variant False CHST9@p.K391Nfs*20 1 0.448979592 ENSG00000154080 chr18:26916421-26916421;C/- frameshift_variant False CHSY1@p.A404V 1 0.175438596 ENSG00000131873 chr15:101178586-101178586;G/A missense_variant False CHSY1@p.D389G 1 0.247058824 ENSG00000131873 chr15:101178631-101178631;T/C missense_variant False CHSY1@p.D589N 1 0.5 ENSG00000131873 chr15:101178032-101178032;C/T missense_variant False CHST11@p.E313K 1 0.29787234 ENSG00000171310 chr12:104757681-104757681;G/A missense_variant False CHRNE@p.Q169E 1 0.5 ENSG00000108556 chr17:4901621-4901621;G/C missense_variant False CHRNA5@p.A396V 1 0.265306122 ENSG00000169684 chr15:78590578-78590578;C/T missense_variant False CHRNB1@p.R232H 1 0.212121212 ENSG00000170175 chr17:7448663-7448663;G/A missense_variant False CHRNB2@p.M77I 1 0.675 ENSG00000160716 chr1:154569812-154569812;G/A missense_variant False CHRNB2@p.F236L 1 0.071005917 ENSG00000160716 chr1:154571531-154571531;C/G missense_variant False CHRNB2@p.E54K 1 0.075 ENSG00000160716 chr1:154569557-154569557;G/A missense_variant False CHRNB1@p.V52A 1 0.380952381 ENSG00000170175 chr17:7445366-7445366;T/C missense_variant False CHRNB1@p.S377F 1 0.487804878 ENSG00000170175 chr17:7455369-7455369;C/T missense_variant False CHRNB1@p.R367K 1 0.107692308 ENSG00000170175 chr17:7455339-7455339;G/A missense_variant False CHRNB1@p.D454N 1 0.142857143 ENSG00000170175 chr17:7455936-7455936;G/A missense_variant False CHRNE@p.E44K 1 0.357954545 ENSG00000108556 chr17:4902680-4902680;C/T missense_variant False CHRNA9@p.G141R 1 0.203947368 ENSG00000174343 chr4:40348937-40348937;G/A missense_variant False CHRNA7@p.M371I 1 0.139534884 ENSG00000175344 chr15:32168062-32168062;G/A missense_variant False CHRNA7@p.A373T 1 0.293577982 ENSG00000175344 chr15:32168066-32168066;G/A missense_variant False CHRNA6@p.L307Hfs*54 1 0.238095238 ENSG00000147434 chr8:42756257-42756279;GACAAAGATCATGGTGAACAGCA/- frameshift_variant False CHRNA6@p.E305K 1 0.157894737 ENSG00000147434 chr8:42756286-42756286;C/T missense_variant False CHRNA5@p.Q376H 1 0.220588235 ENSG00000169684 chr15:78590519-78590519;G/C missense_variant False CHRNB2@p.S109C 1 0.096774194 ENSG00000160716 chr1:154570328-154570328;C/G missense_variant False CHRNB3@p.E119K 1 0.1875 ENSG00000147432 chr8:42730699-42730699;G/A missense_variant False CHRNB3@p.E409Q 1 0.359375 ENSG00000147432 chr8:42732532-42732532;G/C missense_variant False CHRNB3@p.L117I 1 0.277777778 ENSG00000147432 chr8:42730693-42730693;C/A missense_variant False CHRNB3@p.L81F 1 0.153846154 ENSG00000147432 chr8:42710426-42710426;C/T missense_variant False CHRNB3@p.R355H 1 0.297297297 ENSG00000147432 chr8:42732371-42732371;G/A missense_variant False CHRNB4@p.E156Q 1 0.113636364 ENSG00000117971 chr15:78629839-78629839;C/G missense_variant False CHRNB4@p.R210M 1 0.402985075 ENSG00000117971 chr15:78629676-78629676;C/A missense_variant False CHRNB4@p.W111R 1 0.206896552 ENSG00000117971 chr15:78631104-78631104;A/G missense_variant False CHRND@p.E2K 1 0.189473684 ENSG00000135902 chr2:232526219-232526219;G/A missense_variant False CHRND@p.E35D 1 0.115384615 ENSG00000135902 chr2:232526581-232526581;G/C missense_variant False CHRND@p.E388K 1 0.404761905 ENSG00000135902 chr2:232534045-232534045;G/A missense_variant False CHRND@p.E93K 1 0.263157895 ENSG00000135902 chr2:232528295-232528295;G/A missense_variant False CHRND@p.M449I 1 0.214285714 ENSG00000135902 chr2:232534318-232534318;G/A missense_variant False CHRND@p.R450K 1 0.586206897 ENSG00000135902 chr2:232534320-232534320;G/A missense_variant False CHRND@p.S126F 1 0.261363636 ENSG00000135902 chr2:232528524-232528524;C/T missense_variant False CHRNE@p.E23K 1 0.086538462 ENSG00000108556 chr17:4902743-4902743;C/T missense_variant False CHMP7@p.E424Q 1 0.336283186 ENSG00000147457 chr8:23260293-23260293;G/C missense_variant False CHMP6@p.V188F 1 0.12 ENSG00000176108 chr17:80999109-80999109;G/T missense_variant False CHMP6@p.E135G 1 0.241935484 ENSG00000176108 chr17:80997062-80997062;A/G missense_variant False CHD9@p.Q2020E 1 0.278350515 ENSG00000177200 chr16:53304064-53304064;C/G missense_variant False CHD9@p.S85Y 1 0.425287356 ENSG00000177200 chr16:53156343-53156343;C/A missense_variant False CHD9@p.S2881F 1 0.5 ENSG00000177200 chr16:53324843-53324843;C/T missense_variant False CHD9@p.R992Q 1 0.086206897 ENSG00000177200 chr16:53242937-53242937;G/A missense_variant False CHD9@p.R1935G 1 0.605263158 ENSG00000177200 chr16:53303809-53303809;C/G missense_variant False CHD9@p.R1386H 1 0.396648045 ENSG00000177200 chr16:53255727-53255727;G/A missense_variant False CHD9@p.R1357Q 1 0.268292683 ENSG00000177200 chr16:53255640-53255640;G/A missense_variant False CHD9@p.N2491S 1 0.260273973 ENSG00000177200 chr16:53314932-53314932;A/G missense_variant False CHD9@p.E1471Q 1 0.279411765 ENSG00000177200 chr16:53267384-53267384;G/C missense_variant False CHD9@p.K606Q 1 0.466666667 ENSG00000177200 chr16:53222675-53222675;A/C missense_variant False CHD9@p.I896V 1 0.384615385 ENSG00000177200 chr16:53238395-53238395;A/G missense_variant False CHD9@p.H314D 1 0.085714286 ENSG00000177200 chr16:53157029-53157029;C/G missense_variant False CHD9@p.H297Y 1 0.105263158 ENSG00000177200 chr16:53156978-53156978;C/T missense_variant False CHD9@p.E822K 1 0.30952381 ENSG00000177200 chr16:53231737-53231737;G/A missense_variant False CHD9@p.E2534K 1 0.276595745 ENSG00000177200 chr16:53318227-53318227;G/A missense_variant False CHDH@p.A288V 1 0.127659574 ENSG00000016391 chr3:53821769-53821769;G/A missense_variant False CHEK1@p.E432K 1 0.391304348 ENSG00000149554 chr11:125653806-125653806;G/A missense_variant False CHEK1@p.G289V 1 0.3 ENSG00000149554 chr11:125643843-125643843;G/T missense_variant False CHEK1@p.Q295E 1 0.208791209 ENSG00000149554 chr11:125643860-125643860;C/G missense_variant False CHEK2@p.D339Y 1 0.272727273 ENSG00000183765 chr22:28703527-28703527;C/A missense_variant False CHEK2@p.E420K 1 0.226415094 ENSG00000183765 chr22:28695840-28695840;C/T missense_variant False CHEK2@p.H382Y 1 0.28 ENSG00000183765 chr22:28696981-28696981;G/A missense_variant False CHEK2@p.K240Q 1 0.444444444 ENSG00000183765 chr22:28724980-28724980;T/G missense_variant False CHEK2@p.P514S 1 0.079207921 ENSG00000183765 chr22:28694082-28694082;G/A missense_variant False CHEK2@p.P92L 1 0.294117647 ENSG00000183765 chr22:28734447-28734447;G/A missense_variant False CHEK2@p.T43Kfs*33 1 0.668604651 ENSG00000183765 chr22:28734593-28734594;GG/- frameshift_variant False CHEK2@p.Y433N 1 0.595959596 ENSG00000183765 chr22:28695801-28695801;A/T missense_variant False CHERP@p.E2D 1 0.1875 ENSG00000085872 chr19:16542373-16542373;C/G missense_variant False CHERP@p.E31Q 1 0.392857143 ENSG00000085872 chr19:16541978-16541978;C/G missense_variant False CHERP@p.E350K 1 0.470588235 ENSG00000085872 chr19:16529729-16529729;C/T missense_variant False CHERP@p.E36Q 1 0.342857143 ENSG00000085872 chr19:16541963-16541963;C/G missense_variant False CHERP@p.G606A 1 0.145454545 ENSG00000085872 chr19:16523215-16523215;C/G missense_variant False CHD9@p.E2068K 1 0.208333333 ENSG00000177200 chr16:53304208-53304208;G/A missense_variant False CHD9@p.E1471K 1 0.4375 ENSG00000177200 chr16:53267384-53267384;G/A missense_variant False CHERP@p.K731N 1 0.435643564 ENSG00000085872 chr19:16520834-16520834;C/G missense_variant False CHD7@p.S1357C 1 0.288135593 ENSG00000171316 chr8:60836897-60836897;C/G missense_variant False CHD7@p.W1966C 1 0.239130435 ENSG00000171316 chr8:60852501-60852501;G/C missense_variant False CHD7@p.V1238I 1 0.234375 ENSG00000171316 chr8:60830511-60830511;G/A missense_variant False CHD7@p.T760A 1 0.5 ENSG00000171316 chr8:60800427-60800427;A/G missense_variant False CHD7@p.S465Y 1 0.212765957 ENSG00000171316 chr8:60742826-60742826;C/A missense_variant False CHD7@p.S252L 1 0.248484848 ENSG00000171316 chr8:60742187-60742187;C/T missense_variant False CHD7@p.S2158L 1 0.375 ENSG00000171316 chr8:60853198-60853198;C/T missense_variant False CHD7@p.R2303K 1 0.123076923 ENSG00000171316 chr8:60854495-60854495;G/A missense_variant False CHD9@p.D2135H 1 0.222222222 ENSG00000177200 chr16:53304409-53304409;G/C missense_variant False CHD7@p.R1557K 1 0.25 ENSG00000171316 chr8:60841872-60841872;G/A missense_variant False CHD7@p.Q61E 1 0.277777778 ENSG00000171316 chr8:60741613-60741613;C/G missense_variant False CHD7@p.Q222E 1 0.192307692 ENSG00000171316 chr8:60742096-60742096;C/G missense_variant False CHD7@p.P410S 1 0.245283019 ENSG00000171316 chr8:60742660-60742660;C/T missense_variant False CHD7@p.P109T 1 0.432432432 ENSG00000171316 chr8:60741757-60741757;C/A missense_variant False CHD7@p.N317K 1 0.172619048 ENSG00000171316 chr8:60742383-60742383;C/G missense_variant False CHD8@p.D1269H 1 0.048951049 ENSG00000100888 chr14:21402413-21402413;C/G missense_variant False CHD8@p.D1436N 1 0.46875 ENSG00000100888 chr14:21400939-21400939;C/T missense_variant False CHD8@p.D1930N 1 0.35 ENSG00000100888 chr14:21394007-21394007;C/T missense_variant False CHD8@p.E1328K 1 0.113207547 ENSG00000100888 chr14:21402037-21402037;C/T missense_variant False CHD8@p.E1476K 1 0.590909091 ENSG00000100888 chr14:21400557-21400557;C/T missense_variant False CHD8@p.E1727K 1 0.205882353 ENSG00000100888 chr14:21395301-21395301;C/T missense_variant False CHD8@p.G1010R 1 0.046979866 ENSG00000100888 chr14:21405744-21405744;C/G missense_variant False CHD8@p.G839V 1 0.32 ENSG00000100888 chr14:21408526-21408526;C/A missense_variant False CHD8@p.P1916H 1 0.428571429 ENSG00000100888 chr14:21394048-21394048;G/T missense_variant False CHD8@p.Q1057H 1 0.185185185 ENSG00000100888 chr14:21405345-21405345;C/G missense_variant False CHD8@p.R1092C 1 0.125 ENSG00000100888 chr14:21405242-21405242;G/A missense_variant False CHD8@p.R1431L 1 0.147058824 ENSG00000100888 chr14:21400953-21400953;C/A missense_variant False CHD8@p.R1434S 1 0.340909091 ENSG00000100888 chr14:21400943-21400943;T/A missense_variant False CHD8@p.R1531H 1 0.325581395 ENSG00000100888 chr14:21400286-21400286;C/T missense_variant False CHD8@p.S869F 1 0.206349206 ENSG00000100888 chr14:21408436-21408436;G/A missense_variant False CHD9@p.D1327N 1 0.113924051 ENSG00000177200 chr16:53254555-53254555;G/A missense_variant False CHD9@p.D1433H 1 0.329268293 ENSG00000177200 chr16:53263074-53263074;G/C missense_variant False CHERP@p.I634M 1 0.446601942 ENSG00000085872 chr19:16523130-16523130;G/C missense_variant False CHFR@p.D249N 1 0.173913043 ENSG00000072609 chr12:132861509-132861509;C/T missense_variant False CHMP4C@p.Q151E 1 0.298701299 ENSG00000164695 chr8:81755452-81755452;C/G missense_variant False CHL1@p.G963E 1 0.111111111 ENSG00000134121 chr3:394714-394714;G/A missense_variant False CHL1@p.R869T 1 0.28 ENSG00000134121 chr3:391022-391022;G/C missense_variant False CHL1@p.R694K 1 0.406976744 ENSG00000134121 chr3:382624-382624;G/A missense_variant False CHL1@p.Q40L 1 0.218181818 ENSG00000134121 chr3:325986-325986;A/T missense_variant False CHL1@p.N62Y 1 0.108108108 ENSG00000134121 chr3:326051-326051;A/T missense_variant False CHL1@p.L735F 1 0.1875 ENSG00000134121 chr3:389257-389257;G/C missense_variant False CHL1@p.L576F 1 0.083333333 ENSG00000134121 chr3:377842-377842;G/C missense_variant False CHL1@p.F1059L 1 0.422222222 ENSG00000134121 chr3:398355-398355;T/C missense_variant False CHIT1@p.S122W 1 0.113924051 ENSG00000133063 chr1:203223610-203223610;G/C missense_variant False CHL1@p.E247K 1 0.1 ENSG00000134121 chr3:344648-344648;G/A missense_variant False CHKB@p.R129Q 1 0.35 ENSG00000100288 chr22:50581810-50581810;C/T missense_variant False CHKB@p.E96K 1 0.266666667 ENSG00000100288 chr22:50582296-50582296;C/T missense_variant False CHKB@p.E119K 1 0.121495327 ENSG00000100288 chr22:50581841-50581841;C/T missense_variant False CHKA@p.T216I 1 0.434108527 ENSG00000110721 chr11:68070841-68070841;G/A missense_variant False CHKA@p.E110K 1 0.222222222 ENSG00000110721 chr11:68120850-68120850;C/T missense_variant False CHM@p.T131S 1 0.217391304 ENSG00000188419 chrX:85963976-85963976;T/A missense_variant False CHML@p.E70D 1 0.234482759 ENSG00000203668 chr1:241635557-241635557;T/G missense_variant False CHML@p.L266F 1 0.205479452 ENSG00000203668 chr1:241634971-241634971;G/A missense_variant False CHML@p.R227G 1 0.099236641 ENSG00000203668 chr1:241635088-241635088;T/C missense_variant False CHML@p.S146L 1 0.420765027 ENSG00000203668 chr1:241635330-241635330;G/A missense_variant False CHMP1B@p.D116V 1 0.161764706 ENSG00000255112 chr18:11851858-11851858;A/T missense_variant False CHMP1B@p.E133Q 1 0.107142857 ENSG00000255112 chr18:11851908-11851908;G/C missense_variant False CHMP1B@p.N165K 1 0.515151515 ENSG00000255112 chr18:11852006-11852006;C/G missense_variant False CHMP2A@p.D145N 1 0.169960474 ENSG00000130724 chr19:58552101-58552101;C/T missense_variant False CHMP2A@p.D148H 1 0.135483871 ENSG00000130724 chr19:58552092-58552092;C/G missense_variant False CHMP2A@p.D169H 1 0.323076923 ENSG00000130724 chr19:58551942-58551942;C/G missense_variant False CHMP2A@p.K217N 1 0.255639098 ENSG00000130724 chr19:58551667-58551667;C/A missense_variant False CHMP2B@p.Q25H 1 0.113636364 ENSG00000083937 chr3:87240739-87240739;G/C missense_variant False CHMP3@p.E207K 1 0.456790123 ENSG00000115561 chr2:86505854-86505854;C/T missense_variant False CHMP3@p.E9K 1 0.164524422 ENSG00000115561 chr2:86563324-86563324;C/T missense_variant False CHMP4B@p.E143K 1 0.275 ENSG00000101421 chr20:33851010-33851010;G/A missense_variant False CHMP4C@p.D224N 1 0.169230769 ENSG00000164695 chr8:81758512-81758512;G/A missense_variant False CHKA@p.D446H 1 0.275862069 ENSG00000110721 chr11:68054026-68054026;C/G missense_variant False CHIT1@p.R40C 1 0.369565217 ENSG00000133063 chr1:203225808-203225808;G/A missense_variant False CHFR@p.D313N 1 0.3 ENSG00000072609 chr12:132859078-132859078;C/T missense_variant False CHGB@p.D544N 1 0.166666667 ENSG00000089199 chr20:5923774-5923774;G/A missense_variant False CHGB@p.H510Y 1 0.05 ENSG00000089199 chr20:5923672-5923672;C/T missense_variant False CHGB@p.F440L 1 0.490566038 ENSG00000089199 chr20:5923464-5923464;C/A missense_variant False CHGB@p.E671Q 1 0.290322581 ENSG00000089199 chr20:5925026-5925026;G/C missense_variant False CHGB@p.E665Q 1 0.295454545 ENSG00000089199 chr20:5925008-5925008;G/C missense_variant False CHGB@p.E408Q 1 0.290123457 ENSG00000089199 chr20:5923366-5923366;G/C missense_variant False CHGB@p.D579Y 1 0.228571429 ENSG00000089199 chr20:5923879-5923879;G/T missense_variant False CHGB@p.D488N 1 0.467213115 ENSG00000089199 chr20:5923606-5923606;G/A missense_variant False CHIT1@p.M109K 1 0.231075697 ENSG00000133063 chr1:203223649-203223649;A/T missense_variant False CHGA@p.E58K 1 0.2 ENSG00000100604 chr14:92926683-92926683;G/A missense_variant False CHFR@p.S464F 1 0.235294118 ENSG00000072609 chr12:132853448-132853448;G/A missense_variant False CHFR@p.M129I 1 0.138613861 ENSG00000072609 chr12:132870740-132870740;C/T missense_variant False CHFR@p.E67K 1 0.382022472 ENSG00000072609 chr12:132877589-132877589;C/T missense_variant False CHFR@p.E498Q 1 0.160493827 ENSG00000072609 chr12:132851654-132851654;C/G missense_variant False CHFR@p.D380H 1 0.258823529 ENSG00000072609 chr12:132856595-132856595;C/G missense_variant False CHGB@p.N196K 1 0.234782609 ENSG00000089199 chr20:5922732-5922732;C/A missense_variant False CHGB@p.P593T 1 0.166666667 ENSG00000089199 chr20:5923921-5923921;C/A missense_variant False CHGB@p.R469T 1 0.256410256 ENSG00000089199 chr20:5923550-5923550;G/C missense_variant False CHI3L1@p.D186N 1 0.100917431 ENSG00000133048 chr1:203182762-203182762;C/T missense_variant False CHI3L1@p.D38N 1 0.46875 ENSG00000133048 chr1:203185329-203185329;C/T missense_variant False CHI3L1@p.R286W 1 0.234042553 ENSG00000133048 chr1:203180508-203180508;G/A missense_variant False CHI3L2@p.I359M 1 0.328767123 ENSG00000064886 chr1:111242268-111242268;C/G missense_variant False CHI3L2@p.K350N 1 0.485436893 ENSG00000064886 chr1:111242241-111242241;G/C missense_variant False CHIA@p.G60R 1 0.098039216 ENSG00000134216 chr1:111312312-111312312;G/A missense_variant False CHIA@p.L127Q 1 0.055 ENSG00000134216 chr1:111315335-111315335;T/A missense_variant False CHIA@p.L76V 1 0.264367816 ENSG00000134216 chr1:111312360-111312360;C/G missense_variant False CHIA@p.P36T 1 0.285714286 ENSG00000134216 chr1:111312240-111312240;C/A missense_variant False CHIA@p.S122L 1 0.155963303 ENSG00000134216 chr1:111315320-111315320;C/T missense_variant False CHIA@p.S201L 1 0.363636364 ENSG00000134216 chr1:111317802-111317802;C/T missense_variant False CHID1@p.R279P 1 0.12605042 ENSG00000177830 chr11:883271-883271;C/G missense_variant False CHIT1@p.I124M 1 0.336956522 ENSG00000133063 chr1:203223603-203223603;G/C missense_variant False CHIT1@p.L76F 1 0.324324324 ENSG00000133063 chr1:203225700-203225700;G/A missense_variant False CLU@p.V398I 1 0.418604651 ENSG00000120885 chr8:27598608-27598608;C/T missense_variant False CLUAP1@p.P48A 1 0.624113475 ENSG00000103351 chr16:3506338-3506338;C/G missense_variant False CFAP61@p.E834K 1 0.266666667 ENSG00000089101 chr20:20263127-20263127;G/A missense_variant False COL5A1@p.P1400H 1 0.647058824 ENSG00000130635 chr9:134817800-134817800;C/A missense_variant False COL5A2@p.G126D 1 0.15 ENSG00000204262 chr2:189098752-189098752;C/T missense_variant False COL5A2@p.A1115G 1 0.214285714 ENSG00000204262 chr2:189045198-189045198;G/C missense_variant False COL5A1@p.V1245M 1 0.564705882 ENSG00000130635 chr9:134812491-134812491;G/A missense_variant False COL5A1@p.T1798M 1 0.151162791 ENSG00000130635 chr9:134842179-134842179;C/T missense_variant False COL5A1@p.R193C 1 0.491525424 ENSG00000130635 chr9:134701256-134701256;C/T missense_variant False COL5A1@p.P770S 1 0.089820359 ENSG00000130635 chr9:134772811-134772811;C/T missense_variant False COL5A1@p.K1173E 1 0.282485876 ENSG00000130635 chr9:134810297-134810297;A/G missense_variant False COL5A2@p.G477A 1 0.52892562 ENSG00000204262 chr2:189066754-189066754;C/G missense_variant False COL5A1@p.G433R 1 0.127659574 ENSG00000130635 chr9:134731628-134731628;G/C missense_variant False COL5A1@p.G1570R 1 0.157894737 ENSG00000130635 chr9:134824609-134824609;G/A missense_variant False COL5A1@p.D243V 1 0.0875 ENSG00000130635 chr9:134727339-134727339;A/T missense_variant False COL5A1@p.D1266N 1 0.466666667 ENSG00000130635 chr9:134812656-134812656;G/A missense_variant False COL4A6@p.P1278T 1 0.19047619 ENSG00000197565 chrX:108165018-108165018;G/T missense_variant False COL4A6@p.G459C 1 0.863636364 ENSG00000197565 chrX:108190446-108190446;C/A missense_variant False COL5A2@p.G429C 1 0.365591398 ENSG00000204262 chr2:189068243-189068243;C/A missense_variant False COL5A2@p.G840E 1 0.2 ENSG00000204262 chr2:189053458-189053458;C/T missense_variant False COL7A1@p.P1742L 1 0.136363636 ENSG00000114270 chr3:48579598-48579598;G/A missense_variant False COL5A2@p.R1118C 1 0.40625 ENSG00000204262 chr2:189045190-189045190;G/A missense_variant False COL5A3@p.E816D 1 0.382352941 ENSG00000080573 chr19:9982077-9982077;C/G missense_variant False COL5A3@p.E774K 1 0.24137931 ENSG00000080573 chr19:9986347-9986347;C/T missense_variant False COL5A3@p.E561D 1 0.472222222 ENSG00000080573 chr19:9993631-9993631;C/G missense_variant False COL5A2@p.V1461I 1 0.075 ENSG00000204262 chr2:189034189-189034189;C/T missense_variant False COL5A2@p.R665T 1 0.192307692 ENSG00000204262 chr2:189061599-189061599;C/G missense_variant False COL5A2@p.R1283H 1 0.131147541 ENSG00000204262 chr2:189039349-189039349;C/T missense_variant False COL5A2@p.Q194E 1 0.245614035 ENSG00000204262 chr2:189088760-189088760;G/C missense_variant False COL5A2@p.I1433M 1 0.089430894 ENSG00000204262 chr2:189034970-189034970;G/C missense_variant False COL5A2@p.P806A 1 0.113402062 ENSG00000204262 chr2:189054188-189054188;G/C missense_variant False COL5A2@p.P515S 1 0.53125 ENSG00000204262 chr2:189066410-189066410;G/A missense_variant False COL5A2@p.P493L 1 0.272727273 ENSG00000204262 chr2:189066475-189066475;G/A missense_variant False COL5A2@p.P473T 1 0.084745763 ENSG00000204262 chr2:189066767-189066767;G/T missense_variant False COL5A2@p.P473R 1 0.086206897 ENSG00000204262 chr2:189066766-189066766;G/C missense_variant False COL5A2@p.L18F 1 0.463414634 ENSG00000204262 chr2:189179551-189179551;T/A missense_variant False COL4A6@p.G1163R 1 0.401869159 ENSG00000197565 chrX:108170618-108170618;C/T missense_variant False COL4A6@p.C1482Y 1 0.585185185 ENSG00000197565 chrX:108160546-108160546;C/T missense_variant False COL4A5@p.T1603A 1 0.919354839 ENSG00000188153 chrX:108695270-108695270;A/G missense_variant False COL4A3@p.E286Q 1 0.111111111 ENSG00000169031 chr2:227254683-227254683;G/C missense_variant False COL4A3@p.I951T 1 0.272727273 ENSG00000169031 chr2:227284316-227284316;T/C missense_variant False COL4A3@p.G599A 1 0.383561644 ENSG00000169031 chr2:227272986-227272986;G/C missense_variant False COL4A3@p.G174R 1 0.823529412 ENSG00000169031 chr2:227248494-227248494;G/A missense_variant False COL4A3@p.G1268A 1 0.225490196 ENSG00000169031 chr2:227298733-227298733;G/C missense_variant False COL4A3@p.G1195E 1 0.25 ENSG00000169031 chr2:227297692-227297692;G/A missense_variant False COL4A3@p.E887V 1 0.265060241 ENSG00000169031 chr2:227283770-227283770;A/T missense_variant False COL4A3@p.E1084K 1 0.289473684 ENSG00000169031 chr2:227293230-227293230;G/A missense_variant False COL4A5@p.R788H 1 0.523809524 ENSG00000188153 chrX:108606860-108606860;G/A missense_variant False COL4A3@p.D1269H 1 0.442307692 ENSG00000169031 chr2:227298735-227298735;G/C missense_variant False COL4A2@p.R3K 1 0.104477612 ENSG00000134871 chr13:110307911-110307911;G/A missense_variant False COL4A2@p.R1651C 1 0.305084746 ENSG00000134871 chr13:110512003-110512003;C/T missense_variant False COL4A2@p.R1410Q 1 0.261904762 ENSG00000134871 chr13:110503937-110503937;G/A missense_variant False COL4A2@p.G935A 1 0.418410042 ENSG00000134871 chr13:110482561-110482561;G/C missense_variant False COL4A2@p.G1453E 1 0.108433735 ENSG00000134871 chr13:110504220-110504220;G/A missense_variant False COL4A3@p.P179L 1 0.608695652 ENSG00000169031 chr2:227248510-227248510;C/T missense_variant False COL4A3@p.P181H 1 0.377777778 ENSG00000169031 chr2:227248516-227248516;C/A missense_variant False COL4A3@p.R1619I 1 0.217391304 ENSG00000169031 chr2:227310876-227310876;G/T missense_variant False COL4A4@p.D1158Ifs*10 1 0.287878788 ENSG00000081052 chr2:227042181-227042181;C/- frameshift_variant False COL4A4@p.D1625H 1 0.6 ENSG00000081052 chr2:227007525-227007525;C/G missense_variant False COL4A4@p.E1290K 1 0.12 ENSG00000081052 chr2:227030548-227030548;C/T missense_variant False COL4A4@p.G1233E 1 0.136363636 ENSG00000081052 chr2:227032156-227032156;C/T missense_variant False COL4A4@p.G276E 1 0.208333333 ENSG00000081052 chr2:227103187-227103187;C/T missense_variant False COL4A4@p.G282E 1 0.324675325 ENSG00000081052 chr2:227103169-227103169;C/T missense_variant False COL4A4@p.P1379Q 1 0.204275534 ENSG00000081052 chr2:227022128-227022128;G/T missense_variant False COL4A4@p.R1627K 1 0.166666667 ENSG00000081052 chr2:227007518-227007518;C/T missense_variant False COL4A4@p.R189K 1 0.394736842 ENSG00000081052 chr2:227111706-227111706;C/T missense_variant False COL4A4@p.R920T 1 0.083333333 ENSG00000081052 chr2:227054695-227054695;C/G missense_variant False COL4A4@p.S749L 1 0.156626506 ENSG00000081052 chr2:227059542-227059542;G/A missense_variant False COL4A5@p.E1347K 1 0.435294118 ENSG00000188153 chrX:108680926-108680926;G/A missense_variant False COL4A5@p.L1649M 1 0.439189189 ENSG00000188153 chrX:108695408-108695408;C/A missense_variant False COL4A5@p.P315S 1 0.053571429 ENSG00000188153 chrX:108582890-108582890;C/T missense_variant False COL5A3@p.G1418S 1 0.444444444 ENSG00000080573 chr19:9968447-9968447;C/T missense_variant False COL5A3@p.G1448D 1 0.423076923 ENSG00000080573 chr19:9968051-9968051;C/T missense_variant False COL5A3@p.G695R 1 0.418604651 ENSG00000080573 chr19:9989330-9989330;C/T missense_variant False COL6A6@p.E890K 1 0.153846154 ENSG00000206384 chr3:130571084-130571084;G/A missense_variant False COL6A6@p.M1776I 1 0.555555556 ENSG00000206384 chr3:130649157-130649157;G/A missense_variant False COL6A6@p.M1019I 1 0.181818182 ENSG00000206384 chr3:130574035-130574035;G/A missense_variant False COL6A6@p.L135I 1 0.41509434 ENSG00000206384 chr3:130563406-130563406;C/A missense_variant False COL6A6@p.H1049Q 1 0.279069767 ENSG00000206384 chr3:130574125-130574125;C/A missense_variant False COL6A6@p.G158E 1 0.097560976 ENSG00000206384 chr3:130563476-130563476;G/A missense_variant False COL6A6@p.G1452V 1 0.182795699 ENSG00000206384 chr3:130592706-130592706;G/T missense_variant False COL6A6@p.E1255Q 1 0.392857143 ENSG00000206384 chr3:130581776-130581776;G/C missense_variant False COL6A3@p.V1016L 1 0.212903226 ENSG00000163359 chr2:237376796-237376796;C/G missense_variant False COL6A6@p.D925N 1 0.175 ENSG00000206384 chr3:130571189-130571189;G/A missense_variant False COL6A6@p.D920N 1 0.174418605 ENSG00000206384 chr3:130571174-130571174;G/A missense_variant False COL6A6@p.D628H 1 0.285714286 ENSG00000206384 chr3:130568085-130568085;G/C missense_variant False COL6A6@p.D482N 1 0.181318681 ENSG00000206384 chr3:130566863-130566863;G/A missense_variant False COL6A6@p.A2011V 1 0.41025641 ENSG00000206384 chr3:130661838-130661838;C/T missense_variant False COL6A6@p.A139V 1 0.465753425 ENSG00000206384 chr3:130563419-130563419;C/T missense_variant False COL6A6@p.M53I 1 0.353741497 ENSG00000206384 chr3:130563162-130563162;G/C missense_variant False COL6A6@p.N558K 1 0.408163265 ENSG00000206384 chr3:130567093-130567093;C/A missense_variant False COL6A6@p.N92K 1 0.234042553 ENSG00000206384 chr3:130563279-130563279;C/A missense_variant False COL6A6@p.P798L 1 0.261904762 ENSG00000206384 chr3:130568596-130568596;C/T missense_variant False COL6A6@p.R1036K 1 0.222222222 ENSG00000206384 chr3:130574085-130574085;G/A missense_variant False COL6A6@p.R2195Q 1 0.428571429 ENSG00000206384 chr3:130665084-130665084;G/A missense_variant False COL6A6@p.R357W 1 0.227272727 ENSG00000206384 chr3:130565401-130565401;C/T missense_variant False COL7A1@p.D230N 1 0.32 ENSG00000114270 chr3:48592933-48592933;C/T missense_variant False COL7A1@p.D2881G 1 0.367816092 ENSG00000114270 chr3:48564959-48564959;T/C missense_variant False COL7A1@p.E181Q 1 0.18 ENSG00000114270 chr3:48593243-48593243;C/G missense_variant False COL7A1@p.G1412E 1 0.130434783 ENSG00000114270 chr3:48583943-48583943;C/T missense_variant False COL7A1@p.G1613R 1 0.36 ENSG00000114270 chr3:48581322-48581322;C/T missense_variant False COL7A1@p.G1625E 1 0.21875 ENSG00000114270 chr3:48581285-48581285;C/T missense_variant False COL7A1@p.G2058E 1 0.442622951 ENSG00000114270 chr3:48575346-48575346;C/T missense_variant False COL7A1@p.G2123V 1 0.166666667 ENSG00000114270 chr3:48574702-48574702;C/A missense_variant False COL7A1@p.G2611R 1 0.170940171 ENSG00000114270 chr3:48568134-48568134;C/T missense_variant False COL7A1@p.L1169F 1 0.260273973 ENSG00000114270 chr3:48586375-48586375;C/G missense_variant False COL6A3@p.V1299L 1 0.259259259 ENSG00000163359 chr2:237372122-237372122;C/G missense_variant False COL6A3@p.S3154L 1 0.275862069 ENSG00000163359 chr2:237325592-237325592;G/A missense_variant False COL5A3@p.G986E 1 0.379310345 ENSG00000080573 chr19:9978898-9978898;C/T missense_variant False COL6A2@p.G340R 1 0.483870968 ENSG00000142173 chr21:46117418-46117418;G/A missense_variant False COL6A3@p.E1113Q 1 0.805555556 ENSG00000163359 chr2:237374754-237374754;C/G missense_variant False COL6A3@p.D2138H 1 0.271028037 ENSG00000163359 chr2:237358580-237358580;C/G missense_variant False COL6A3@p.D1267G 1 0.315789474 ENSG00000163359 chr2:237372217-237372217;T/C missense_variant False COL6A3@p.A2924T 1 0.444444444 ENSG00000163359 chr2:237336330-237336330;C/T missense_variant False COL6A2@p.R417H 1 0.272727273 ENSG00000142173 chr21:46119100-46119100;G/A missense_variant False COL6A2@p.P583T 1 0.214285714 ENSG00000142173 chr21:46124897-46124897;C/A missense_variant False COL6A2@p.E547K 1 0.448275862 ENSG00000142173 chr21:46122905-46122905;G/A missense_variant False COL6A3@p.S240F 1 0.206896552 ENSG00000163359 chr2:237388175-237388175;G/A missense_variant False COL6A1@p.Q355H 1 0.224489796 ENSG00000142156 chr21:45990987-45990987;A/C missense_variant False COL5A3@p.S1464L 1 0.123966942 ENSG00000080573 chr19:9967917-9967917;G/A missense_variant False COL5A3@p.R149P 1 0.233333333 ENSG00000080573 chr19:10005706-10005706;C/G missense_variant False COL5A3@p.P1453S 1 0.255813953 ENSG00000080573 chr19:9968037-9968037;G/A missense_variant False COL5A3@p.P1176H 1 0.506666667 ENSG00000080573 chr19:9973950-9973950;G/T missense_variant False COL5A3@p.P1035T 1 0.5 ENSG00000080573 chr19:9977617-9977617;G/T missense_variant False COL6A3@p.F1594L 1 0.120567376 ENSG00000163359 chr2:237368681-237368681;G/C missense_variant False COL6A3@p.G1511R 1 0.31884058 ENSG00000163359 chr2:237368932-237368932;C/T missense_variant False COL6A3@p.G1550E 1 0.247933884 ENSG00000163359 chr2:237368814-237368814;C/T missense_variant False COL6A3@p.G1880R 1 0.398230088 ENSG00000163359 chr2:237365898-237365898;C/G missense_variant False COL6A3@p.G2171R 1 0.105633803 ENSG00000163359 chr2:237357843-237357843;C/T missense_variant False COL6A3@p.G2222A 1 0.203389831 ENSG00000163359 chr2:237353366-237353366;C/G missense_variant False COL6A3@p.I1255V 1 0.170212766 ENSG00000163359 chr2:237372254-237372254;T/C missense_variant False COL6A3@p.K573N 1 0.413333333 ENSG00000163359 chr2:237381093-237381093;C/G missense_variant False COL6A3@p.L1544Rfs*45 1 0.153284672 ENSG00000163359 chr2:237368831-237368832;CA/- frameshift_variant False COL6A3@p.L17F 1 0.150684932 ENSG00000163359 chr2:237396769-237396769;G/A missense_variant False COL6A3@p.L1805V 1 0.428571429 ENSG00000163359 chr2:237366774-237366774;G/C missense_variant False COL6A3@p.L902F 1 0.175 ENSG00000163359 chr2:237377138-237377138;G/A missense_variant False COL6A3@p.Q2162L 1 0.565495208 ENSG00000163359 chr2:237357869-237357869;T/A missense_variant False COL6A3@p.R1210Afs*4 1 0.351851852 ENSG00000163359 chr2:237374463-237374463;G/- frameshift_variant False COL6A3@p.R363C 1 0.280701754 ENSG00000163359 chr2:237387807-237387807;G/A missense_variant False COL6A3@p.R836Q 1 0.936170213 ENSG00000163359 chr2:237377335-237377335;C/T missense_variant False COL6A3@p.S1290C 1 0.319148936 ENSG00000163359 chr2:237372148-237372148;G/C missense_variant False COL4A2@p.E1467Q 1 0.260504202 ENSG00000134871 chr13:110504261-110504261;G/C missense_variant False COL4A2@p.E1455K 1 0.21686747 ENSG00000134871 chr13:110504225-110504225;G/A missense_variant False COL4A2@p.D1312Y 1 0.120689655 ENSG00000134871 chr13:110503177-110503177;G/T missense_variant False COL20A1@p.A149V 1 0.285714286 ENSG00000101203 chr20:63305989-63305989;C/T missense_variant False COL21A1@p.R204K 1 0.171428571 ENSG00000124749 chr6:56179607-56179607;C/T missense_variant False COL21A1@p.K57N 1 0.2 ENSG00000124749 chr6:56180047-56180047;T/A missense_variant False COL21A1@p.I41M 1 0.4 ENSG00000124749 chr6:56180095-56180095;G/C missense_variant False COL21A1@p.D513H 1 0.237623762 ENSG00000124749 chr6:56141790-56141790;C/G missense_variant False COL21A1@p.D296N 1 0.214285714 ENSG00000124749 chr6:56170789-56170789;C/T missense_variant False COL20A1@p.G453V 1 0.3 ENSG00000101203 chr20:63310475-63310475;G/T missense_variant False COL1A2@p.R777H 1 0.326530612 ENSG00000164692 chr7:94421043-94421043;G/A missense_variant False COL1A1@p.R244C 1 0.142857143 ENSG00000108821 chr17:50197200-50197200;G/A missense_variant False COL1A2@p.L1292V 1 0.339285714 ENSG00000164692 chr7:94429350-94429350;C/G missense_variant False COL1A2@p.G121S 1 0.052631579 ENSG00000164692 chr7:94404729-94404729;G/A missense_variant False COL1A2@p.G106A 1 0.215686275 ENSG00000164692 chr7:94404593-94404593;G/C missense_variant False COL1A2@p.E1303K 1 0.236111111 ENSG00000164692 chr7:94429383-94429383;G/A missense_variant False COL1A2@p.D525N 1 0.4 ENSG00000164692 chr7:94413705-94413705;G/A missense_variant False COL1A2@p.D1120H 1 0.235294118 ENSG00000164692 chr7:94427717-94427717;G/C missense_variant False COL22A1@p.D1184G 1 0.156732892 ENSG00000169436 chr8:138636746-138636746;T/C missense_variant False COL22A1@p.D363G 1 0.240384615 ENSG00000169436 chr8:138821293-138821293;T/C missense_variant False COL22A1@p.F1277L 1 0.134328358 ENSG00000169436 chr8:138616953-138616953;G/C missense_variant False COL22A1@p.G1473W 1 0.178217822 ENSG00000169436 chr8:138596919-138596919;C/A missense_variant False COL22A1@p.G663E 1 0.283333333 ENSG00000169436 chr8:138755200-138755200;C/T missense_variant False COL22A1@p.G943V 1 0.164835165 ENSG00000169436 chr8:138688951-138688951;C/A missense_variant False COL22A1@p.K241M 1 0.102941176 ENSG00000169436 chr8:138844095-138844095;T/A missense_variant False COL22A1@p.K260N 1 0.261904762 ENSG00000169436 chr8:138833104-138833104;C/G missense_variant False COL22A1@p.L251F 1 0.233333333 ENSG00000169436 chr8:138833131-138833131;C/A missense_variant False COL22A1@p.P1200H 1 0.176470588 ENSG00000169436 chr8:138635020-138635020;G/T missense_variant False COL22A1@p.P1489L 1 0.458715596 ENSG00000169436 chr8:138594166-138594166;G/A missense_variant False COL22A1@p.P1534L 1 0.339285714 ENSG00000169436 chr8:138594031-138594031;G/A missense_variant False COL22A1@p.P734H 1 0.087719298 ENSG00000169436 chr8:138724661-138724661;G/T missense_variant False COL22A1@p.R215H 1 0.142857143 ENSG00000169436 chr8:138877764-138877764;C/T missense_variant False COL22A1@p.S1334T 1 0.259259259 ENSG00000169436 chr8:138607968-138607968;A/T missense_variant False COL23A1@p.D312N 1 0.441558442 ENSG00000050767 chr5:178254975-178254975;C/T missense_variant False COL23A1@p.G460S 1 0.4 ENSG00000050767 chr5:178246289-178246289;C/T missense_variant False COL1A2@p.A1062V 1 0.066666667 ENSG00000164692 chr7:94427213-94427213;C/T missense_variant False COL1A1@p.R1170S 1 0.238095238 ENSG00000108821 chr17:50187038-50187038;G/T missense_variant False COL23A1@p.R143Q 1 0.223529412 ENSG00000050767 chr5:178288337-178288337;C/T missense_variant False COL17A1@p.P1150S 1 0.5 ENSG00000065618 chr10:104035534-104035534;G/A missense_variant False COL18A1@p.V484I 1 0.386363636 ENSG00000182871 chr21:45468340-45468340;G/A missense_variant False COL18A1@p.H1417Y 1 0.25 ENSG00000182871 chr21:45505269-45505269;C/T missense_variant False COL18A1@p.E135K 1 0.161764706 ENSG00000182871 chr21:45455933-45455933;G/A missense_variant False COL18A1@p.D828N 1 0.050847458 ENSG00000182871 chr21:45478342-45478342;G/A missense_variant False COL17A1@p.S382C 1 0.735294118 ENSG00000065618 chr10:104059715-104059715;G/C missense_variant False COL17A1@p.R879Q 1 0.149253731 ENSG00000065618 chr10:104041314-104041314;C/T missense_variant False COL17A1@p.H849R 1 0.163636364 ENSG00000065618 chr10:104042425-104042425;T/C missense_variant False COL1A1@p.P223R 1 0.207650273 ENSG00000108821 chr17:50197760-50197760;G/C missense_variant False COL17A1@p.E391Q 1 0.323529412 ENSG00000065618 chr10:104059689-104059689;C/G missense_variant False COL17A1@p.E1352Q 1 0.239130435 ENSG00000065618 chr10:104034047-104034047;C/G missense_variant False COL17A1@p.E1013Q 1 0.646788991 ENSG00000065618 chr10:104038439-104038439;C/G missense_variant False COL16A1@p.S1418L 1 0.142857143 ENSG00000084636 chr1:31655351-31655351;G/A missense_variant False COL16A1@p.R1286K 1 0.375 ENSG00000084636 chr1:31660607-31660607;C/T missense_variant False COL16A1@p.L766P 1 0.368421053 ENSG00000084636 chr1:31683990-31683990;A/G missense_variant False COL19A1@p.D152H 1 0.634328358 ENSG00000082293 chr6:69929488-69929488;G/C missense_variant False COL19A1@p.D198N 1 0.670520231 ENSG00000082293 chr6:69929626-69929626;G/A missense_variant False COL19A1@p.D876N 1 0.205882353 ENSG00000082293 chr6:70176523-70176523;G/A missense_variant False COL19A1@p.E240K 1 0.62962963 ENSG00000082293 chr6:69932834-69932834;G/A missense_variant False COL19A1@p.F77L 1 0.24 ENSG00000082293 chr6:69900303-69900303;C/G missense_variant False COL19A1@p.G537E 1 0.222222222 ENSG00000082293 chr6:70142804-70142804;G/A missense_variant False COL19A1@p.G804R 1 0.126637555 ENSG00000082293 chr6:70165950-70165950;G/A missense_variant False COL19A1@p.G914C 1 0.478723404 ENSG00000082293 chr6:70180488-70180488;G/T missense_variant False COL19A1@p.L52I 1 0.273684211 ENSG00000082293 chr6:69899010-69899010;C/A missense_variant False COL19A1@p.P165Lfs*27 1 0.5 ENSG00000082293 chr6:69929527-69929527;C/- frameshift_variant False COL19A1@p.S392F 1 0.130434783 ENSG00000082293 chr6:70068427-70068427;C/T missense_variant False COL1A1@p.D49N 1 0.45412844 ENSG00000108821 chr17:50199906-50199906;C/T missense_variant False COL1A1@p.E684G 1 0.488888889 ENSG00000108821 chr17:50191864-50191864;T/C missense_variant False COL1A1@p.G1160S 1 0.131578947 ENSG00000108821 chr17:50187068-50187068;C/T missense_variant False COL1A1@p.G263A 1 0.431818182 ENSG00000108821 chr17:50197026-50197026;C/G missense_variant False COL1A1@p.G596A 1 0.666666667 ENSG00000108821 chr17:50193028-50193028;C/G missense_variant False COL1A1@p.P1131R 1 0.35 ENSG00000108821 chr17:50187515-50187515;G/C missense_variant False COL23A1@p.P186A 1 0.333333333 ENSG00000050767 chr5:178263291-178263291;G/C missense_variant False COL23A1@p.T201I 1 0.256410256 ENSG00000050767 chr5:178263245-178263245;G/A missense_variant False COL4A2@p.D117N 1 0.088888889 ENSG00000134871 chr13:110424986-110424986;G/A missense_variant False COL2A1@p.R1133H 1 0.266666667 ENSG00000139219 chr12:47976849-47976849;C/T missense_variant False COL3A1@p.E704K 1 0.233333333 ENSG00000168542 chr2:188999372-188999372;G/A missense_variant False COL3A1@p.E1455K 1 0.18487395 ENSG00000168542 chr2:189011736-189011736;G/A missense_variant False COL3A1@p.E1171K 1 0.272727273 ENSG00000168542 chr2:189008128-189008128;G/A missense_variant False COL3A1@p.A1079T 1 0.461538462 ENSG00000168542 chr2:189006970-189006970;G/A missense_variant False COL2A1@p.S421Y 1 0.25 ENSG00000139219 chr12:47987273-47987273;G/T missense_variant False COL2A1@p.R989H 1 0.227272727 ENSG00000139219 chr12:47978328-47978328;C/T missense_variant False COL2A1@p.P245T 1 0.227848101 ENSG00000139219 chr12:47995284-47995284;G/T missense_variant False COL2A1@p.D188H 1 0.225913621 ENSG00000139219 chr12:47996595-47996595;C/G missense_variant False COL2A1@p.P245S 1 0.09375 ENSG00000139219 chr12:47995284-47995284;G/A missense_variant False COL2A1@p.G780V 1 0.369811321 ENSG00000139219 chr12:47982123-47982123;C/A missense_variant False COL2A1@p.G1215Wfs*38 1 0.102564103 ENSG00000139219 chr12:47975561-47975562;-/G frameshift_variant False COL2A1@p.G1095D 1 0.142857143 ENSG00000139219 chr12:47977145-47977145;C/T missense_variant False COL2A1@p.E1402K 1 0.255813953 ENSG00000139219 chr12:47974202-47974202;C/T missense_variant False COL2A1@p.E1292K 1 0.243243243 ENSG00000139219 chr12:47975329-47975329;C/T missense_variant False COL3A1@p.E802K 1 0.380952381 ENSG00000168542 chr2:189002310-189002310;G/A missense_variant False COL3A1@p.G1080S 1 0.136363636 ENSG00000168542 chr2:189006973-189006973;G/A missense_variant False COL3A1@p.P107H 1 0.13253012 ENSG00000168542 chr2:188985234-188985234;C/A missense_variant False COL3A1@p.P994H 1 0.126984127 ENSG00000168542 chr2:189005399-189005399;C/A missense_variant False COL3A1@p.R428Q 1 0.230769231 ENSG00000168542 chr2:188994322-188994322;G/A missense_variant False COL4A1@p.E1606V 1 0.28125 ENSG00000187498 chr13:110152445-110152445;T/A missense_variant False COL4A1@p.G203R 1 0.161290323 ENSG00000187498 chr13:110209988-110209988;C/T missense_variant False COL4A1@p.G293D 1 0.076388889 ENSG00000187498 chr13:110205519-110205519;C/T missense_variant False COL4A1@p.G553S 1 0.654761905 ENSG00000187498 chr13:110187209-110187209;C/T missense_variant False COL4A1@p.H1444Y 1 0.070588235 ENSG00000187498 chr13:110162362-110162362;G/A missense_variant False COL4A1@p.P1364R 1 0.647058824 ENSG00000187498 chr13:110164921-110164921;G/C missense_variant False COL4A1@p.P413L 1 0.265625 ENSG00000187498 chr13:110198514-110198514;G/A missense_variant False COL4A1@p.P872S 1 0.112149533 ENSG00000187498 chr13:110178076-110178076;G/A missense_variant False COL4A1@p.R597C 1 0.139423077 ENSG00000187498 chr13:110186493-110186493;G/A missense_variant False COL4A1@p.S877Y 1 0.077669903 ENSG00000187498 chr13:110177928-110177928;G/T missense_variant False COL4A1@p.S914L 1 0.219512195 ENSG00000187498 chr13:110177013-110177013;G/A missense_variant False COL4A1@p.V1191M 1 0.621621622 ENSG00000187498 chr13:110170718-110170718;C/T missense_variant False COL2A1@p.E1195K 1 0.530973451 ENSG00000139219 chr12:47975977-47975977;C/T missense_variant False COL2A1@p.A812V 1 0.333333333 ENSG00000139219 chr12:47981371-47981371;G/A missense_variant False COL24A1@p.D456Y 1 0.285714286 ENSG00000171502 chr1:86124970-86124970;C/A missense_variant False COL24A1@p.P1211A 1 0.165829146 ENSG00000171502 chr1:85838635-85838635;G/C missense_variant False COL25A1@p.E614K 1 0.323076923 ENSG00000188517 chr4:108824179-108824179;C/T missense_variant False COL24A1@p.S919N 1 0.42 ENSG00000171502 chr1:85907216-85907216;C/T missense_variant False COL24A1@p.R1320T 1 0.208333333 ENSG00000171502 chr1:85786454-85786454;C/G missense_variant False COL24A1@p.R130I 1 0.132352941 ENSG00000171502 chr1:86125947-86125947;C/A missense_variant False COL24A1@p.Q554E 1 0.247787611 ENSG00000171502 chr1:86089221-86089221;G/C missense_variant False COL24A1@p.P728H 1 0.269662921 ENSG00000171502 chr1:86022557-86022557;G/T missense_variant False COL24A1@p.N1550T 1 0.145454545 ENSG00000171502 chr1:85744689-85744689;T/G missense_variant False COL28A1@p.N561S 1 0.09375 ENSG00000215018 chr7:7440830-7440830;T/C missense_variant False COL24A1@p.I848N 1 0.126984127 ENSG00000171502 chr1:85961268-85961268;A/T missense_variant False COL24A1@p.I293M 1 0.136986301 ENSG00000171502 chr1:86125457-86125457;G/C missense_variant False COL24A1@p.G1417A 1 0.306306306 ENSG00000171502 chr1:85783530-85783530;C/G missense_variant False COL24A1@p.G1339R 1 0.436170213 ENSG00000171502 chr1:85786398-85786398;C/G missense_variant False COL24A1@p.E336K 1 0.119266055 ENSG00000171502 chr1:86125330-86125330;C/T missense_variant False COL24A1@p.E1391K 1 0.209302326 ENSG00000171502 chr1:85784163-85784163;C/T missense_variant False COL25A1@p.G574R 1 0.12 ENSG00000188517 chr4:108827179-108827179;C/T missense_variant False COL25A1@p.G622R 1 0.125 ENSG00000188517 chr4:108819311-108819311;C/T missense_variant False COL25A1@p.L97P 1 0.107784431 ENSG00000188517 chr4:109301730-109301730;A/G missense_variant False COL25A1@p.P305L 1 0.220338983 ENSG00000188517 chr4:108889726-108889726;G/A missense_variant False COL25A1@p.R16T 1 0.363636364 ENSG00000188517 chr4:109301973-109301973;C/G missense_variant False COL27A1@p.G1324E 1 0.906976744 ENSG00000196739 chr9:114284761-114284761;G/A missense_variant False COL27A1@p.G41E 1 0.566037736 ENSG00000196739 chr9:114162774-114162774;G/A missense_variant False COL27A1@p.G877E 1 0.52 ENSG00000196739 chr9:114236991-114236991;G/A missense_variant False COL27A1@p.P1086A 1 0.463157895 ENSG00000196739 chr9:114264930-114264930;C/G missense_variant False COL27A1@p.Q581K 1 0.243093923 ENSG00000196739 chr9:114169296-114169296;C/A missense_variant False COL27A1@p.R118C 1 0.470588235 ENSG00000196739 chr9:114167907-114167907;C/T missense_variant False COL27A1@p.R1561W 1 0.303030303 ENSG00000196739 chr9:114300667-114300667;C/T missense_variant False COL27A1@p.S489L 1 0.4030837 ENSG00000196739 chr9:114169021-114169021;C/T missense_variant False COL28A1@p.A274T 1 0.441176471 ENSG00000215018 chr7:7517831-7517831;C/T missense_variant False COL28A1@p.E807Q 1 0.222222222 ENSG00000215018 chr7:7373487-7373487;C/G missense_variant False COL28A1@p.F1112L 1 0.078212291 ENSG00000215018 chr7:7358675-7358675;G/C missense_variant False COL28A1@p.G418A 1 0.275862069 ENSG00000215018 chr7:7474650-7474650;C/G missense_variant False COL7A1@p.P1352S 1 0.382716049 ENSG00000114270 chr3:48584550-48584550;G/A missense_variant False COL7A1@p.P2652H 1 0.18627451 ENSG00000114270 chr3:48567738-48567738;G/T missense_variant False COL16A1@p.E795K 1 0.121212121 ENSG00000084636 chr1:31683366-31683366;C/T missense_variant False CORO7-PAM16@p.E950Q 1 0.2 ENSG00000103426 chr16:4343216-4343216;C/G missense_variant False COX10@p.R406S 1 0.211267606 ENSG00000006695 chr17:14207099-14207099;G/C missense_variant False COX10@p.L424V 1 0.163636364 ENSG00000006695 chr17:14207151-14207151;C/G missense_variant False COTL1@p.T80M 1 0.198019802 ENSG00000103187 chr16:84590184-84590184;G/A missense_variant False CORO7@p.V589L 1 0.590909091 ENSG00000262246 chr16:4361171-4361171;C/A missense_variant False CORO7@p.S429C 1 0.25 ENSG00000262246 chr16:4362728-4362728;G/C missense_variant False CORO7@p.G684R 1 0.16 ENSG00000262246 chr16:4360336-4360336;C/T missense_variant False CORO7-PAM16@p.E1030K 1 0.382352941 ENSG00000103426 chr16:4340378-4340378;C/T missense_variant False COX10@p.S103L 1 0.133333333 ENSG00000006695 chr17:14076865-14076865;C/T missense_variant False CORO6@p.S138C 1 0.421875 ENSG00000167549 chr17:29619098-29619098;G/C missense_variant False CORO6@p.R244Q 1 0.206896552 ENSG00000167549 chr17:29617522-29617522;C/T missense_variant False CORO6@p.G237D 1 0.340425532 ENSG00000167549 chr17:29617543-29617543;C/T missense_variant False CORO6@p.G207D 1 0.25 ENSG00000167549 chr17:29618803-29618803;C/T missense_variant False CORO6@p.E295K 1 0.325842697 ENSG00000167549 chr17:29616823-29616823;C/T missense_variant False CORO6@p.D94N 1 0.127659574 ENSG00000167549 chr17:29619692-29619692;C/T missense_variant False COX10@p.R58H 1 0.446096654 ENSG00000006695 chr17:14074452-14074452;G/A missense_variant False COX11@p.I152T 1 0.28358209 ENSG00000166260 chr17:54964764-54964764;A/G missense_variant False COL7A1@p.P2667L 1 0.156862745 ENSG00000114270 chr3:48567620-48567620;G/A missense_variant False COX5A@p.S45L 1 0.297297297 ENSG00000178741 chr15:74929199-74929199;G/A missense_variant False COX7B2@p.H35D 1 0.09375 ENSG00000170516 chr4:46735090-46735090;G/C missense_variant False COX7B2@p.F49L 1 0.258426966 ENSG00000170516 chr4:46735046-46735046;G/C missense_variant False COX7A2L@p.R79Q 1 0.376623377 ENSG00000115944 chr2:42351328-42351328;C/T missense_variant False COX7A2@p.P61L 1 0.484042553 ENSG00000112695 chr6:75241198-75241198;G/A missense_variant False COX7A1@p.M57I 1 0.102040816 ENSG00000161281 chr19:36151478-36151478;C/T missense_variant False COX6C@p.M23L 1 0.423728814 ENSG00000164919 chr8:99891955-99891955;T/A missense_variant False COX5A@p.D81N 1 0.211267606 ENSG00000178741 chr15:74926864-74926864;C/T missense_variant False COX15@p.L270V 1 0.346153846 ENSG00000014919 chr10:99721011-99721011;G/C missense_variant False COX5A@p.D53H 1 0.294117647 ENSG00000178741 chr15:74929176-74929176;C/G missense_variant False COX5A@p.A92T 1 0.136363636 ENSG00000178741 chr15:74926831-74926831;C/T missense_variant False COX20@p.S115G 1 0.339622642 ENSG00000203667 chr1:244843162-244843162;A/G missense_variant False COX17@p.D34N 1 0.352941176 ENSG00000138495 chr3:119677211-119677211;C/T missense_variant False COX15@p.Y290H 1 0.362318841 ENSG00000014919 chr10:99718465-99718465;A/G missense_variant False COX15@p.M180I 1 0.224489796 ENSG00000014919 chr10:99727010-99727010;C/G missense_variant False CORO6@p.D88H 1 0.288888889 ENSG00000167549 chr17:29619710-29619710;C/G missense_variant False CORO6@p.D365N 1 0.114285714 ENSG00000167549 chr17:29616145-29616145;C/T missense_variant False CORO2B@p.S271F 1 0.301886792 ENSG00000103647 chr15:68714605-68714605;C/T missense_variant False CORIN@p.N389H 1 0.411764706 ENSG00000145244 chr4:47678022-47678022;T/G missense_variant False CORO1A@p.P83L 1 0.35 ENSG00000102879 chr16:30186647-30186647;C/T missense_variant False CORO1A@p.E110Q 1 0.159090909 ENSG00000102879 chr16:30186822-30186822;G/C missense_variant False CORIN@p.T176Nfs*23 1 0.131578947 ENSG00000145244 chr4:47763469-47763470;-/T frameshift_variant False CORIN@p.S867L 1 0.485714286 ENSG00000145244 chr4:47603609-47603609;G/A missense_variant False CORIN@p.R797Q 1 0.168421053 ENSG00000145244 chr4:47623721-47623721;C/T missense_variant False CORIN@p.N431K 1 0.266272189 ENSG00000145244 chr4:47674457-47674457;A/T missense_variant False CORIN@p.L156Q 1 0.206896552 ENSG00000145244 chr4:47763529-47763529;A/T missense_variant False CORO2B@p.I176T 1 0.114754098 ENSG00000103647 chr15:68711585-68711585;T/C missense_variant False CORIN@p.D88N 1 0.333333333 ENSG00000145244 chr4:47786872-47786872;C/T missense_variant False COQ9@p.R21Q 1 0.333333333 ENSG00000088682 chr16:57447567-57447567;G/A missense_variant False COQ9@p.H229D 1 0.416666667 ENSG00000088682 chr16:57458324-57458324;C/G missense_variant False COQ8B@p.R119H 1 0.272727273 ENSG00000123815 chr19:40710070-40710070;C/T missense_variant False COQ8B@p.G28R 1 0.298245614 ENSG00000123815 chr19:40714551-40714551;C/G missense_variant False COQ8B@p.D386H 1 0.037974684 ENSG00000123815 chr19:40696042-40696042;C/G missense_variant False CORO1A@p.R354Q 1 0.319148936 ENSG00000102879 chr16:30188245-30188245;G/A missense_variant False CORO1A@p.S149* 1 0.208333333 ENSG00000102879 chr16:30186938-30186939;-/T frameshift_variant False CORO1B@p.E256Q 1 0.296296296 ENSG00000172725 chr11:67440430-67440430;C/G missense_variant False CORO1B@p.E333Q 1 0.1875 ENSG00000172725 chr11:67440128-67440128;C/G missense_variant False CORO1C@p.D364N 1 0.492537313 ENSG00000110880 chr12:108648820-108648820;C/T missense_variant False CORO1C@p.E101K 1 0.229885057 ENSG00000110880 chr12:108678289-108678289;C/T missense_variant False CORO1C@p.E207Q 1 0.207317073 ENSG00000110880 chr12:108658749-108658749;C/G missense_variant False CORO1C@p.R11W 1 0.0591133 ENSG00000110880 chr12:108701288-108701288;G/A missense_variant False CORO1C@p.R3P 1 0.336134454 ENSG00000110880 chr12:108701311-108701311;C/G missense_variant False CORO1C@p.W158G 1 0.25 ENSG00000110880 chr12:108658896-108658896;A/C missense_variant False CORO2A@p.E97Q 1 0.140243902 ENSG00000106789 chr9:98137601-98137601;C/G missense_variant False CORO2A@p.G192S 1 0.418181818 ENSG00000106789 chr9:98133112-98133112;C/T missense_variant False CORO2A@p.M355I 1 0.44 ENSG00000106789 chr9:98128622-98128622;C/T missense_variant False CORO2B@p.D177Y 1 0.3 ENSG00000103647 chr15:68711587-68711587;G/T missense_variant False CORO2B@p.G61A 1 0.244444444 ENSG00000103647 chr15:68645326-68645326;G/C missense_variant False CORO2B@p.G63S 1 0.048192771 ENSG00000103647 chr15:68645331-68645331;G/A missense_variant False CORO2B@p.G63V 1 0.049382716 ENSG00000103647 chr15:68645332-68645332;G/T missense_variant False COX7B2@p.R7K 1 0.523809524 ENSG00000170516 chr4:46735173-46735173;C/T missense_variant False COX7B@p.R15Q 1 0.176470588 ENSG00000131174 chrX:77902646-77902646;G/A missense_variant False COX7B@p.R71K 1 0.733333333 ENSG00000131174 chrX:77905230-77905230;G/A missense_variant False CPD@p.A325T 1 0.340248963 ENSG00000108582 chr17:30385215-30385215;G/A missense_variant False CPD@p.H601Y 1 0.083333333 ENSG00000108582 chr17:30423649-30423649;C/T missense_variant False CPD@p.H1216Y 1 0.060869565 ENSG00000108582 chr17:30461892-30461892;C/T missense_variant False CPD@p.G838E 1 0.226666667 ENSG00000108582 chr17:30443941-30443941;G/A missense_variant False CPD@p.E912D 1 0.113636364 ENSG00000108582 chr17:30445883-30445883;G/C missense_variant False CPD@p.E818K 1 0.436464088 ENSG00000108582 chr17:30443880-30443880;G/A missense_variant False CPD@p.E1372Q 1 0.414285714 ENSG00000108582 chr17:30464785-30464785;G/C missense_variant False CPB2@p.Y49H 1 0.427272727 ENSG00000080618 chr13:46087750-46087750;A/G missense_variant False CPAMD8@p.E424Q 1 0.25 ENSG00000160111 chr19:16993553-16993553;C/G missense_variant False CPB2@p.D60N 1 0.316455696 ENSG00000080618 chr13:46084316-46084316;C/T missense_variant False CPB1@p.R108W 1 0.31884058 ENSG00000153002 chr3:148840735-148840735;C/T missense_variant False CPB1@p.K235N 1 0.059210526 ENSG00000153002 chr3:148844694-148844694;G/C missense_variant False CPAMD8@p.V611I 1 0.146551724 ENSG00000160111 chr19:16977436-16977436;C/T missense_variant False CPAMD8@p.R568C 1 0.418604651 ENSG00000160111 chr19:16980521-16980521;G/A missense_variant False CPAMD8@p.K275T 1 0.25 ENSG00000160111 chr19:17002341-17002341;T/G missense_variant False CPD@p.I543M 1 0.242424242 ENSG00000108582 chr17:30422995-30422995;A/G missense_variant False CPD@p.L291F 1 0.170731707 ENSG00000108582 chr17:30385115-30385115;G/C missense_variant False CPD@p.L513F 1 0.349593496 ENSG00000108582 chr17:30422905-30422905;G/C missense_variant False CPD@p.R525W 1 0.382352941 ENSG00000108582 chr17:30422939-30422939;C/T missense_variant False CPD@p.R847Q 1 0.773972603 ENSG00000108582 chr17:30443968-30443968;G/A missense_variant False CPD@p.S1206C 1 0.488636364 ENSG00000108582 chr17:30461297-30461297;A/T missense_variant False CPD@p.S490L 1 0.086956522 ENSG00000108582 chr17:30422835-30422835;C/T missense_variant False CPD@p.S667L 1 0.412121212 ENSG00000108582 chr17:30427541-30427541;C/T missense_variant False CPD@p.S910L 1 0.097826087 ENSG00000108582 chr17:30445876-30445876;C/T missense_variant False CPE@p.D328Y 1 0.556818182 ENSG00000109472 chr4:165487446-165487446;G/T missense_variant False CPE@p.E352Q 1 0.379310345 ENSG00000109472 chr4:165487518-165487518;G/C missense_variant False CPE@p.E370K 1 0.425 ENSG00000109472 chr4:165487572-165487572;G/A missense_variant False CPE@p.E61K 1 0.5 ENSG00000109472 chr4:165379402-165379402;G/A missense_variant False CPE@p.L157Q 1 0.166666667 ENSG00000109472 chr4:165464552-165464552;T/A missense_variant False CPE@p.R297W 1 0.480144404 ENSG00000109472 chr4:165484520-165484520;C/T missense_variant False CPEB1@p.D523H 1 0.307692308 ENSG00000214575 chr15:82549487-82549487;C/G missense_variant False CPEB1@p.E68Q 1 0.188679245 ENSG00000214575 chr15:82627361-82627361;C/G missense_variant False CPAMD8@p.H959D 1 0.111111111 ENSG00000160111 chr19:16945608-16945608;G/C missense_variant False CPAMD8@p.E1841Q 1 0.272727273 ENSG00000160111 chr19:16896222-16896222;C/G missense_variant False CP@p.D611H 1 0.5 ENSG00000047457 chr3:149188085-149188085;C/G missense_variant False CPA2@p.A11T 1 0.37037037 ENSG00000158516 chr7:130266912-130266912;G/A missense_variant False CPA3@p.L14F 1 0.133858268 ENSG00000163751 chr3:148865347-148865347;C/T missense_variant False CPA3@p.D368N 1 0.426086957 ENSG00000163751 chr3:148896555-148896555;G/A missense_variant False CPA3@p.D105H 1 0.574468085 ENSG00000163751 chr3:148878484-148878484;G/C missense_variant False CPA2@p.S151F 1 0.105263158 ENSG00000158516 chr7:130273143-130273143;C/T missense_variant False CPA2@p.Q395H 1 0.505747126 ENSG00000158516 chr7:130289672-130289672;G/T missense_variant False CPA2@p.M411T 1 0.182795699 ENSG00000158516 chr7:130289719-130289719;T/C missense_variant False CPA1@p.Y122H 1 0.166666667 ENSG00000091704 chr7:130381846-130381846;T/C missense_variant False CPAMD8@p.E1622Q 1 0.438596491 ENSG00000160111 chr19:16901260-16901260;C/G missense_variant False CPA1@p.S61F 1 0.257142857 ENSG00000091704 chr7:130381664-130381664;C/T missense_variant False CPA1@p.H417Y 1 0.220779221 ENSG00000091704 chr7:130388000-130388000;C/T missense_variant False CP@p.S865F 1 0.144578313 ENSG00000047457 chr3:149179623-149179623;G/A missense_variant False CP@p.S241L 1 0.272727273 ENSG00000047457 chr3:149209270-149209270;G/A missense_variant False CP@p.I311V 1 0.494505495 ENSG00000047457 chr3:149207468-149207468;T/C missense_variant False CP@p.H120Y 1 0.078125 ENSG00000047457 chr3:149212487-149212487;G/A missense_variant False CPA3@p.R28H 1 0.097087379 ENSG00000163751 chr3:148865487-148865487;G/A missense_variant False CPA3@p.T148N 1 0.303370787 ENSG00000163751 chr3:148878717-148878717;C/A missense_variant False CPA3@p.Y155H 1 0.513513514 ENSG00000163751 chr3:148878737-148878737;T/C missense_variant False CPA4@p.E36Q 1 0.125 ENSG00000128510 chr7:130298783-130298783;G/C missense_variant False CPA4@p.E382K 1 0.176470588 ENSG00000128510 chr7:130322554-130322554;G/A missense_variant False CPA4@p.S284L 1 0.296774194 ENSG00000128510 chr7:130310844-130310844;C/T missense_variant False CPA5@p.I234T 1 0.563380282 ENSG00000158525 chr7:130362948-130362948;T/C missense_variant False CPA5@p.S285N 1 0.081632653 ENSG00000158525 chr7:130367387-130367387;G/A missense_variant False CPA5@p.Y358C 1 0.276923077 ENSG00000158525 chr7:130367940-130367940;A/G missense_variant False CPA6@p.A222V 1 0.265306122 ENSG00000165078 chr8:67484761-67484761;G/A missense_variant False CPA6@p.C418F 1 0.411392405 ENSG00000165078 chr8:67422565-67422565;C/A missense_variant False CPA6@p.E398K 1 0.505154639 ENSG00000165078 chr8:67422626-67422626;C/T missense_variant False CPA6@p.F232L 1 0.38028169 ENSG00000165078 chr8:67484730-67484730;G/T missense_variant False CPA6@p.G166E 1 0.174603175 ENSG00000165078 chr8:67509554-67509554;C/T missense_variant False CPA6@p.P410R 1 0.319672131 ENSG00000165078 chr8:67422589-67422589;G/C missense_variant False CPA6@p.P47A 1 0.224137931 ENSG00000165078 chr8:67624229-67624229;G/C missense_variant False CPA6@p.S322F 1 0.697841727 ENSG00000165078 chr8:67434114-67434114;G/A missense_variant False COQ8A@p.G567W 1 0.114285714 ENSG00000163050 chr1:226986492-226986492;G/T missense_variant False COQ8A@p.E49Q 1 0.514705882 ENSG00000163050 chr1:226961530-226961530;G/C missense_variant False COQ6@p.R113T 1 0.386363636 ENSG00000119723 chr14:73955490-73955490;G/C missense_variant False COLGALT2@p.R358Q 1 0.409448819 ENSG00000198756 chr1:183951070-183951070;C/T missense_variant False COMMD1@p.R114L 1 0.5 ENSG00000173163 chr2:62000861-62000861;G/T missense_variant False COLQ@p.R227Q 1 0.230769231 ENSG00000206561 chr3:15470573-15470573;C/T missense_variant False COLQ@p.H226L 1 0.179775281 ENSG00000206561 chr3:15470576-15470576;T/A missense_variant False COLQ@p.E415Q 1 0.375 ENSG00000206561 chr3:15453884-15453884;C/G missense_variant False COLQ@p.E124Q 1 0.163265306 ENSG00000206561 chr3:15479000-15479000;C/G missense_variant False COLGALT2@p.Y542C 1 0.125 ENSG00000198756 chr1:183939017-183939017;T/C missense_variant False COLGALT2@p.K82N 1 0.2 ENSG00000198756 chr1:184037112-184037112;C/A missense_variant False COLGALT1@p.R483C 1 0.12244898 ENSG00000130309 chr19:17580751-17580751;C/T missense_variant False COLGALT2@p.K431N 1 0.45 ENSG00000198756 chr1:183944300-183944300;C/A missense_variant False COLGALT2@p.K371N 1 0.156593407 ENSG00000198756 chr1:183951030-183951030;C/G missense_variant False COLGALT2@p.K225N 1 0.4 ENSG00000198756 chr1:183969426-183969426;C/G missense_variant False COLGALT2@p.G567E 1 0.1125 ENSG00000198756 chr1:183938942-183938942;C/T missense_variant False COLGALT2@p.E369Q 1 0.165517241 ENSG00000198756 chr1:183951038-183951038;C/G missense_variant False COLGALT2@p.E100K 1 0.180722892 ENSG00000198756 chr1:183978486-183978486;C/T missense_variant False COMMD2@p.E7K 1 0.5 ENSG00000114744 chr3:149752426-149752426;C/T missense_variant False COMMD2@p.L140F 1 0.09057971 ENSG00000114744 chr3:149741703-149741703;G/A missense_variant False COMMD5@p.E62D 1 0.377358491 ENSG00000170619 chr8:144851153-144851153;C/G missense_variant False COMMD5@p.V55L 1 0.285714286 ENSG00000170619 chr8:144851176-144851176;C/G missense_variant False COMMD9@p.M151I 1 0.395833333 ENSG00000110442 chr11:36276140-36276140;C/A missense_variant False COMMD9@p.S119C 1 0.306122449 ENSG00000110442 chr11:36276237-36276237;G/C missense_variant False COMMD9@p.S136L 1 0.044117647 ENSG00000110442 chr11:36276186-36276186;G/A missense_variant False COMMD9@p.S77C 1 0.454545455 ENSG00000110442 chr11:36278564-36278564;G/C missense_variant False COMP@p.D346N 1 0.3 ENSG00000105664 chr19:18787590-18787590;C/T missense_variant False COMP@p.D530N 1 0.36 ENSG00000105664 chr19:18785753-18785753;C/T missense_variant False COMP@p.E583Q 1 0.144444444 ENSG00000105664 chr19:18785063-18785063;C/G missense_variant False COMP@p.P135T 1 0.466666667 ENSG00000105664 chr19:18789285-18789285;G/T missense_variant False COMP@p.Q21H 1 0.454545455 ENSG00000105664 chr19:18791207-18791207;C/A missense_variant False COMP@p.Q492L 1 0.552631579 ENSG00000105664 chr19:18785979-18785979;T/A missense_variant False COMP@p.R337H 1 0.105769231 ENSG00000105664 chr19:18787616-18787616;C/T missense_variant False COMT@p.R151P 1 0.534883721 ENSG00000093010 chr22:19963728-19963728;G/C missense_variant False COMT@p.S122L 1 0.461538462 ENSG00000093010 chr22:19963641-19963641;C/T missense_variant False COLGALT2@p.D588N 1 0.139130435 ENSG00000198756 chr1:183938880-183938880;C/T missense_variant False COLGALT1@p.M144I 1 0.586206897 ENSG00000130309 chr19:17560408-17560408;G/C missense_variant False COP1@p.D327N 1 0.253521127 ENSG00000143207 chr1:176116671-176116671;C/T missense_variant False COL7A1@p.R963C 1 0.214285714 ENSG00000114270 chr3:48587525-48587525;G/A missense_variant False COL8A2@p.G267V 1 0.179487179 ENSG00000171812 chr1:36098881-36098881;C/A missense_variant False COL8A1@p.P256H 1 0.216216216 ENSG00000144810 chr3:99794668-99794668;C/A missense_variant False COL8A1@p.E683K 1 0.206896552 ENSG00000144810 chr3:99795948-99795948;G/A missense_variant False COL7A1@p.W1963S 1 0.196428571 ENSG00000114270 chr3:48575717-48575717;C/G missense_variant False COL7A1@p.V222M 1 0.157894737 ENSG00000114270 chr3:48593120-48593120;C/T missense_variant False COL7A1@p.T1140R 1 0.416666667 ENSG00000114270 chr3:48586463-48586463;G/C missense_variant False COL7A1@p.R582L 1 0.438596491 ENSG00000114270 chr3:48590708-48590708;C/A missense_variant False COLGALT1@p.G402Afs*13 1 0.309090909 ENSG00000130309 chr19:17578027-17578027;G/- frameshift_variant False COL7A1@p.R2895W 1 0.178947368 ENSG00000114270 chr3:48564918-48564918;G/A missense_variant False COL7A1@p.R2777Q 1 0.25 ENSG00000114270 chr3:48566538-48566538;C/T missense_variant False COL7A1@p.R2777P 1 0.246445498 ENSG00000114270 chr3:48566538-48566538;C/G missense_variant False COL7A1@p.R2685Q 1 0.076433121 ENSG00000114270 chr3:48567183-48567183;C/T missense_variant False COL7A1@p.R2338Q 1 0.175 ENSG00000114270 chr3:48572137-48572137;C/T missense_variant False COL7A1@p.P2930Hfs*22 1 0.172727273 ENSG00000114270 chr3:48564812-48564812;G/- frameshift_variant False COL8A2@p.P227L 1 0.625 ENSG00000171812 chr1:36099001-36099001;G/A missense_variant False COL8A2@p.R393Q 1 0.666666667 ENSG00000171812 chr1:36098503-36098503;C/T missense_variant False COL8A2@p.S28F 1 0.25 ENSG00000171812 chr1:36100160-36100160;G/A missense_variant False COL9A1@p.D177Y 1 0.435643564 ENSG00000112280 chr6:70294334-70294334;C/A missense_variant False COL9A1@p.P561R 1 0.180555556 ENSG00000112280 chr6:70254513-70254513;G/C missense_variant False COL9A1@p.Q228E 1 0.520661157 ENSG00000112280 chr6:70294181-70294181;G/C missense_variant False COL9A1@p.R28H 1 0.333333333 ENSG00000112280 chr6:70302006-70302006;C/T missense_variant False COL9A1@p.R848I 1 0.342857143 ENSG00000112280 chr6:70225970-70225970;C/A missense_variant False COL9A1@p.R877Q 1 0.294117647 ENSG00000112280 chr6:70217033-70217033;C/T missense_variant False COL9A2@p.D281E 1 0.200819672 ENSG00000049089 chr1:40309941-40309941;G/C missense_variant False COLEC11@p.H219N 1 0.139534884 ENSG00000118004 chr2:3643957-3643957;C/A missense_variant False COLEC11@p.R60T 1 0.192307692 ENSG00000118004 chr2:3613359-3613359;G/C missense_variant False COLEC12@p.E366K 1 0.363636364 ENSG00000158270 chr18:346526-346526;C/T missense_variant False COLEC12@p.I440V 1 0.4625 ENSG00000158270 chr18:346304-346304;T/C missense_variant False COLEC12@p.L290I 1 0.397590361 ENSG00000158270 chr18:346754-346754;G/T missense_variant False COLEC12@p.S418L 1 0.111111111 ENSG00000158270 chr18:346369-346369;G/A missense_variant False COLGALT1@p.E552K 1 0.279279279 ENSG00000130309 chr19:17581229-17581229;G/A missense_variant False COMTD1@p.R39P 1 0.428571429 ENSG00000165644 chr10:75235722-75235722;C/G missense_variant False COP1@p.D584H 1 0.146341463 ENSG00000143207 chr1:175989459-175989459;C/G missense_variant False COQ6@p.M110I 1 0.231884058 ENSG00000119723 chr14:73955482-73955482;G/T missense_variant False COPS4@p.E336D 1 0.197183099 ENSG00000138663 chr4:83068443-83068443;A/T missense_variant False COPS7B@p.S8L 1 0.685714286 ENSG00000144524 chr2:231788593-231788593;C/T missense_variant False COPS7A@p.P86A 1 0.256756757 ENSG00000111652 chr12:6728240-6728240;C/G missense_variant False COPS6@p.M206I 1 0.095238095 ENSG00000168090 chr7:100091121-100091121;G/A missense_variant False COPS5@p.D151H 1 0.148148148 ENSG00000121022 chr8:67058139-67058139;C/G missense_variant False COPS4@p.R271K 1 0.303030303 ENSG00000138663 chr4:83063172-83063172;G/A missense_variant False COPS4@p.N209Lfs*10 1 0.397590361 ENSG00000138663 chr4:83057317-83057324;CAATGAGC/- frameshift_variant False COPS4@p.E101K 1 0.337837838 ENSG00000138663 chr4:83049312-83049312;G/A missense_variant False COPS2@p.S21C 1 0.254237288 ENSG00000166200 chr15:49145071-49145071;G/C missense_variant False COPS4@p.A332V 1 0.461538462 ENSG00000138663 chr4:83066546-83066546;C/T missense_variant False COPS3@p.S415L 1 0.090909091 ENSG00000141030 chr17:17247126-17247126;G/A missense_variant False COPS3@p.F8L 1 0.222222222 ENSG00000141030 chr17:17281163-17281163;G/T missense_variant False COPS3@p.E396D 1 0.072463768 ENSG00000141030 chr17:17247510-17247510;C/G missense_variant False COPS3@p.E385Q 1 0.094117647 ENSG00000141030 chr17:17247545-17247545;C/G missense_variant False COPS3@p.D377H 1 0.140350877 ENSG00000141030 chr17:17248934-17248934;C/G missense_variant False COPS8@p.E208Q 1 0.379310345 ENSG00000198612 chr2:237097734-237097734;G/C missense_variant False COPS8@p.Y55C 1 0.125 ENSG00000198612 chr2:237088619-237088619;A/G missense_variant False COPZ2@p.E89K 1 0.583333333 ENSG00000005243 chr17:48033866-48033866;C/T missense_variant False COQ10A@p.D211H 1 0.120567376 ENSG00000135469 chr12:56270204-56270204;G/C missense_variant False COQ10B@p.P49A 1 0.172043011 ENSG00000115520 chr2:197459972-197459972;C/G missense_variant False COQ10B@p.S151C 1 0.176470588 ENSG00000115520 chr2:197470074-197470074;C/G missense_variant False COQ10B@p.S185C 1 0.5 ENSG00000115520 chr2:197473761-197473761;C/G missense_variant False COQ3@p.D217H 1 0.239520958 ENSG00000132423 chr6:99376020-99376020;C/G missense_variant False COQ3@p.D230H 1 0.231707317 ENSG00000132423 chr6:99375981-99375981;C/G missense_variant False COQ3@p.L294V 1 0.256410256 ENSG00000132423 chr6:99371437-99371437;G/C missense_variant False COQ5@p.D211H 1 0.413793103 ENSG00000110871 chr12:120510067-120510067;C/G missense_variant False COQ5@p.G16E 1 0.516666667 ENSG00000110871 chr12:120529095-120529095;C/T missense_variant False COQ5@p.Q282E 1 0.267692308 ENSG00000110871 chr12:120504008-120504008;G/C missense_variant False COQ5@p.R41W 1 0.144067797 ENSG00000110871 chr12:120529021-120529021;G/A missense_variant False COQ6@p.D132H 1 0.444444444 ENSG00000119723 chr14:73955841-73955841;G/C missense_variant False COQ6@p.E415Q 1 0.261682243 ENSG00000119723 chr14:73961769-73961769;G/C missense_variant False COQ6@p.L348I 1 0.147058824 ENSG00000119723 chr14:73961323-73961323;C/A missense_variant False COPS3@p.A143T 1 0.196969697 ENSG00000141030 chr17:17267899-17267899;C/T missense_variant False COPS2@p.R100W 1 0.181818182 ENSG00000166200 chr15:49139602-49139602;G/A missense_variant False COP1@p.S383G 1 0.292682927 ENSG00000143207 chr1:176081282-176081282;T/C missense_variant False COPA@p.R55Q 1 0.1 ENSG00000122218 chr1:160339973-160339973;C/T missense_variant False COPB2@p.L488P 1 0.149253731 ENSG00000184432 chr3:139368227-139368227;A/G missense_variant False COPB2@p.E139K 1 0.337662338 ENSG00000184432 chr3:139378130-139378130;C/T missense_variant False COPB1@p.S885C 1 0.117647059 ENSG00000129083 chr11:14458680-14458680;G/C missense_variant False COPB1@p.F800V 1 0.311111111 ENSG00000129083 chr11:14464923-14464923;A/C missense_variant False COPB1@p.E759Q 1 0.183673469 ENSG00000129083 chr11:14466297-14466297;C/G missense_variant False COPA@p.S743P 1 0.095238095 ENSG00000122218 chr1:160297379-160297379;A/G missense_variant False COPA@p.M314I 1 0.092592593 ENSG00000122218 chr1:160312002-160312002;C/G missense_variant False COPS2@p.P293Q 1 0.475 ENSG00000166200 chr15:49133946-49133946;G/T missense_variant False COPA@p.H291N 1 0.171428571 ENSG00000122218 chr1:160313139-160313139;G/T missense_variant False COPA@p.E1130Q 1 0.108571429 ENSG00000122218 chr1:160291367-160291367;C/G missense_variant False COPA@p.E1059K 1 0.76284585 ENSG00000122218 chr1:160291902-160291902;C/T missense_variant False COPA@p.D292Y 1 0.12 ENSG00000122218 chr1:160313136-160313136;C/A missense_variant False COP1@p.S566F 1 0.310344828 ENSG00000143207 chr1:176027604-176027604;G/A missense_variant False COP1@p.S506L 1 0.229411765 ENSG00000143207 chr1:176043723-176043723;G/A missense_variant False COPB2@p.L580F 1 0.265306122 ENSG00000184432 chr3:139366712-139366712;C/G missense_variant False COPB2@p.P614S 1 0.166666667 ENSG00000184432 chr3:139366612-139366612;G/A missense_variant False COPE@p.A78T 1 0.042857143 ENSG00000105669 chr19:18911029-18911029;C/T missense_variant False COPE@p.F20L 1 0.25 ENSG00000105669 chr19:18919289-18919289;G/C missense_variant False COPE@p.I204M 1 0.32 ENSG00000105669 chr19:18903391-18903391;G/C missense_variant False COPG1@p.E750Q 1 0.320754717 ENSG00000181789 chr3:129272896-129272896;G/C missense_variant False COPG1@p.E782K 1 0.14159292 ENSG00000181789 chr3:129274925-129274925;G/A missense_variant False COPG1@p.H394Y 1 0.298850575 ENSG00000181789 chr3:129263955-129263955;C/T missense_variant False COPG1@p.M316T 1 0.156862745 ENSG00000181789 chr3:129260626-129260626;T/C missense_variant False COPG1@p.N399S 1 0.443037975 ENSG00000181789 chr3:129263971-129263971;A/G missense_variant False COPG1@p.V333I 1 0.126760563 ENSG00000181789 chr3:129260676-129260676;G/A missense_variant False COPS2@p.D381H 1 0.28440367 ENSG00000166200 chr15:49128748-49128748;C/G missense_variant False COPS2@p.D46N 1 0.4375 ENSG00000166200 chr15:49144997-49144997;C/T missense_variant False COPS2@p.E109Q 1 0.472222222 ENSG00000166200 chr15:49139575-49139575;C/G missense_variant False COPS2@p.K328Dfs*12 1 0.278688525 ENSG00000166200 chr15:49130781-49130782;TT/- frameshift_variant False COPS2@p.L116I 1 0.431034483 ENSG00000166200 chr15:49139554-49139554;G/T missense_variant False COPS2@p.L246F 1 0.066666667 ENSG00000166200 chr15:49134086-49134086;C/G missense_variant False COL16A1@p.G151V 1 0.538461538 ENSG00000084636 chr1:31698111-31698111;C/A missense_variant False COL16A1@p.E353D 1 0.15 ENSG00000084636 chr1:31693104-31693104;C/G missense_variant False CLUAP1@p.R347T 1 0.371428571 ENSG00000103351 chr16:3532789-3532789;G/C missense_variant False CNOT10@p.Q701H 1 0.268389662 ENSG00000182973 chr3:32773479-32773479;G/C missense_variant False CNOT1@p.E1434Q 1 0.307692308 ENSG00000125107 chr16:58543741-58543741;C/G missense_variant False CNOT1@p.E126Rfs*17 1 0.292682927 ENSG00000125107 chr16:58587347-58587348;-/T frameshift_variant False CNOT1@p.D1671_A1672del 1 0.470588235 ENSG00000125107 chr16:58538891-58538896;GGCATC/- inframe_deletion False CNOT1@p.C1902Y 1 0.340909091 ENSG00000125107 chr16:58534337-58534337;C/T missense_variant False CNOT11@p.D419H 1 0.146341463 ENSG00000158435 chr2:101269056-101269056;G/C missense_variant False CNOT10@p.S231Y 1 0.452830189 ENSG00000182973 chr3:32717185-32717185;C/A missense_variant False CNOT10@p.H367Y 1 0.176470588 ENSG00000182973 chr3:32727754-32727754;C/T missense_variant False CNOT1@p.F744L 1 0.153846154 ENSG00000125107 chr16:58558573-58558573;G/C missense_variant False CNOT10@p.E677K 1 0.105263158 ENSG00000182973 chr3:32769911-32769911;G/A missense_variant False CNOT10@p.E260G 1 0.333333333 ENSG00000182973 chr3:32720148-32720148;A/G missense_variant False CNNM4@p.S69F 1 0.230769231 ENSG00000158158 chr2:96761205-96761205;C/T missense_variant False CNNM4@p.S674L 1 0.291666667 ENSG00000158158 chr2:96808633-96808633;C/T missense_variant False CNNM4@p.R605Q 1 0.2 ENSG00000158158 chr2:96799189-96799189;G/A missense_variant False CNNM4@p.M270L 1 0.06504065 ENSG00000158158 chr2:96761807-96761807;A/T missense_variant False CNOT1@p.F1785L 1 0.551724138 ENSG00000125107 chr16:58537950-58537950;G/C missense_variant False CNOT1@p.G1516D 1 0.42248062 ENSG00000125107 chr16:58542456-58542456;C/T missense_variant False CNTN2@p.E809K 1 0.243243243 ENSG00000184144 chr1:205070055-205070055;G/A missense_variant False CNOT1@p.Y851C 1 0.482352941 ENSG00000125107 chr16:58555836-58555836;T/C missense_variant False CNOT3@p.E283Q 1 0.284313725 ENSG00000088038 chr19:54146610-54146610;G/C missense_variant False CNOT3@p.E252K 1 0.409090909 ENSG00000088038 chr19:54145960-54145960;G/A missense_variant False CNOT3@p.E250Rfs*85 1 0.113207547 ENSG00000088038 chr19:54145953-54145953;G/- frameshift_variant False CNOT2@p.S65L 1 0.253846154 ENSG00000111596 chr12:70319320-70319320;C/T missense_variant False CNOT2@p.S47F 1 0.261538462 ENSG00000111596 chr12:70310986-70310986;C/T missense_variant False CNOT2@p.G215A 1 0.082352941 ENSG00000111596 chr12:70332841-70332841;G/C missense_variant False CNOT1@p.S2203F 1 0.375 ENSG00000125107 chr16:58525355-58525355;G/A missense_variant False CNOT1@p.H1146Y 1 0.145038168 ENSG00000125107 chr16:58549805-58549805;G/A missense_variant False CNOT1@p.S1834C 1 0.347826087 ENSG00000125107 chr16:58537134-58537134;G/C missense_variant False CNOT1@p.S1245C 1 0.071428571 ENSG00000125107 chr16:58547202-58547202;G/C missense_variant False CNOT1@p.R2045W 1 0.282608696 ENSG00000125107 chr16:58532002-58532002;G/A missense_variant False CNOT1@p.M950T 1 0.217142857 ENSG00000125107 chr16:58555293-58555293;A/G missense_variant False CNOT1@p.K1064N 1 0.462264151 ENSG00000125107 chr16:58551598-58551598;T/G missense_variant False CNOT1@p.I2046V 1 0.760869565 ENSG00000125107 chr16:58531999-58531999;T/C missense_variant False CNNM4@p.L269V 1 0.077669903 ENSG00000158158 chr2:96761804-96761804;C/G missense_variant False CNNM4@p.L182F 1 0.144329897 ENSG00000158158 chr2:96761543-96761543;C/T missense_variant False CNNM4@p.E489K 1 0.260869565 ENSG00000158158 chr2:96797074-96797074;G/A missense_variant False CNN1@p.Y26H 1 0.4 ENSG00000130176 chr19:11541088-11541088;T/C missense_variant False CNNM1@p.P934L 1 0.611111111 ENSG00000119946 chr10:99391461-99391461;C/T missense_variant False CNNM1@p.F440S 1 0.112903226 ENSG00000119946 chr10:99330706-99330706;T/C missense_variant False CNNM1@p.E682D 1 0.285714286 ENSG00000119946 chr10:99364434-99364434;G/T missense_variant False CNN2@p.Q267H 1 0.369230769 ENSG00000064666 chr19:1037771-1037771;G/C missense_variant False CNN2@p.I92M 1 0.095890411 ENSG00000064666 chr19:1032582-1032582;C/G missense_variant False CNN2@p.D232N 1 0.270833333 ENSG00000064666 chr19:1037664-1037664;G/A missense_variant False CNN1@p.S2C 1 0.666666667 ENSG00000130176 chr19:11538932-11538932;C/G missense_variant False CNNM4@p.D389N 1 0.125 ENSG00000158158 chr2:96762164-96762164;G/A missense_variant False CNN1@p.K271T 1 0.163043478 ENSG00000130176 chr19:11549713-11549713;A/C missense_variant False CNN1@p.D190N 1 0.179245283 ENSG00000130176 chr19:11549389-11549389;G/A missense_variant False CNMD@p.R218K 1 0.224242424 ENSG00000136110 chr13:52708672-52708672;C/T missense_variant False CNMD@p.E167Q 1 0.3125 ENSG00000136110 chr13:52712839-52712839;C/G missense_variant False CNKSR3@p.S409L 1 0.24137931 ENSG00000153721 chr6:154410987-154410987;G/A missense_variant False CNKSR3@p.R393G 1 0.088235294 ENSG00000153721 chr6:154411036-154411036;G/C missense_variant False CNNM1@p.R819W 1 0.423728814 ENSG00000119946 chr10:99387934-99387934;C/T missense_variant False CNNM2@p.E462K 1 0.615384615 ENSG00000148842 chr10:102919864-102919864;G/A missense_variant False CNNM2@p.E536Q 1 0.222222222 ENSG00000148842 chr10:102920086-102920086;G/C missense_variant False CNNM2@p.E666K 1 0.274647887 ENSG00000148842 chr10:103056887-103056887;G/A missense_variant False CNNM2@p.G356E 1 0.285714286 ENSG00000148842 chr10:102919547-102919547;G/A missense_variant False CNNM2@p.I175M 1 0.039893617 ENSG00000148842 chr10:102919005-102919005;C/G missense_variant False CNNM2@p.L253P 1 0.296296296 ENSG00000148842 chr10:102919238-102919238;T/C missense_variant False CNNM2@p.L837F 1 0.48 ENSG00000148842 chr10:103077063-103077063;G/C missense_variant False CNNM2@p.R602L 1 0.333333333 ENSG00000148842 chr10:103054368-103054368;G/T missense_variant False CNNM2@p.S269W 1 0.315789474 ENSG00000148842 chr10:102919286-102919286;C/G missense_variant False CNNM2@p.S318L 1 0.555555556 ENSG00000148842 chr10:102919433-102919433;C/T missense_variant False CNNM2@p.S607C 1 0.379310345 ENSG00000148842 chr10:103054383-103054383;C/G missense_variant False CNNM3@p.A4E 1 0.538461538 ENSG00000168763 chr2:96816288-96816288;C/A missense_variant False CNNM3@p.E430K 1 0.213114754 ENSG00000168763 chr2:96825120-96825120;G/A missense_variant False CNNM3@p.F385L 1 0.126436782 ENSG00000168763 chr2:96817432-96817432;C/G missense_variant False CNNM3@p.R654Q 1 0.333333333 ENSG00000168763 chr2:96829036-96829036;G/A missense_variant False CNNM3@p.R703Q 1 0.141509434 ENSG00000168763 chr2:96832600-96832600;G/A missense_variant False CNOT3@p.E89G 1 0.369565217 ENSG00000088038 chr19:54144013-54144013;A/G missense_variant False CNOT3@p.G109V 1 0.285714286 ENSG00000088038 chr19:54144073-54144073;G/T missense_variant False CNOT4@p.L16V 1 0.520833333 ENSG00000080802 chr7:135438286-135438286;G/C missense_variant False CNTLN@p.E1339K 1 0.106382979 ENSG00000044459 chr9:17484454-17484454;G/A missense_variant False CNTLN@p.N793H 1 0.35 ENSG00000044459 chr9:17394831-17394831;A/C missense_variant False CNTLN@p.M719I 1 0.916666667 ENSG00000044459 chr9:17394611-17394611;G/A missense_variant False CNTLN@p.I850V 1 0.227272727 ENSG00000044459 chr9:17395002-17395002;A/G missense_variant False CNTLN@p.I650T 1 0.379032258 ENSG00000044459 chr9:17366679-17366679;T/C missense_variant False CNTLN@p.E742K 1 0.1875 ENSG00000044459 chr9:17394678-17394678;G/A missense_variant False CNTLN@p.E554K 1 0.710526316 ENSG00000044459 chr9:17340842-17340842;G/A missense_variant False CNTLN@p.E1236K 1 0.951219512 ENSG00000044459 chr9:17466742-17466742;G/A missense_variant False CNST@p.T675M 1 0.236111111 ENSG00000162852 chr1:246665751-246665751;C/T missense_variant False CNTLN@p.E1140D 1 0.086956522 ENSG00000044459 chr9:17464512-17464512;G/C missense_variant False CNTLN@p.D1152H 1 0.214285714 ENSG00000044459 chr9:17464546-17464546;G/C missense_variant False CNTFR@p.E111D 1 0.345381526 ENSG00000122756 chr9:34557971-34557971;C/A missense_variant False CNTF@p.K46N 1 0.128205128 ENSG00000242689 chr11:58624057-58624057;G/C missense_variant False CNTF@p.K154E 1 0.126315789 ENSG00000242689 chr11:58624379-58624379;A/G missense_variant False CNTF@p.E71Q 1 0.413043478 ENSG00000242689 chr11:58624130-58624130;G/C missense_variant False CNTLN@p.Q689H 1 0.232394366 ENSG00000044459 chr9:17388241-17388241;G/C missense_variant False CNTLN@p.R1198I 1 0.492307692 ENSG00000044459 chr9:17466042-17466042;G/T missense_variant False CNTLN@p.R293G 1 0.251908397 ENSG00000044459 chr9:17273760-17273760;A/G missense_variant False CNTLN@p.Y1398F 1 0.181818182 ENSG00000044459 chr9:17502624-17502624;A/T missense_variant False CNTN1@p.E311K 1 0.416666667 ENSG00000018236 chr12:40933824-40933824;G/A missense_variant False CNTN1@p.E34K 1 0.156862745 ENSG00000018236 chr12:40918644-40918644;G/A missense_variant False CNTN1@p.G479A 1 0.102040816 ENSG00000018236 chr12:40943653-40943653;G/C missense_variant False CNTN1@p.N477I 1 0.186813187 ENSG00000018236 chr12:40943647-40943647;A/T missense_variant False CNTN1@p.N488Y 1 0.179487179 ENSG00000018236 chr12:40943679-40943679;A/T missense_variant False CNTN1@p.R27T 1 0.238095238 ENSG00000018236 chr12:40910091-40910091;G/C missense_variant False CNTN1@p.R721I 1 0.129411765 ENSG00000018236 chr12:41014276-41014276;G/T missense_variant False CNTN1@p.R910K 1 0.662337662 ENSG00000018236 chr12:41027875-41027875;G/A missense_variant False CNTN1@p.S117F 1 0.09375 ENSG00000018236 chr12:40922378-40922378;C/T missense_variant False CNTN2@p.D339N 1 0.509433962 ENSG00000184144 chr1:205061906-205061906;G/A missense_variant False CNTN2@p.D389N 1 0.56 ENSG00000184144 chr1:205062494-205062494;G/A missense_variant False CNTN2@p.D618N 1 0.239130435 ENSG00000184144 chr1:205066476-205066476;G/A missense_variant False CNTN2@p.D618V 1 0.222222222 ENSG00000184144 chr1:205066477-205066477;A/T missense_variant False CNTF@p.D175H 1 0.066666667 ENSG00000242689 chr11:58624442-58624442;G/C missense_variant False CNST@p.S323I 1 0.225806452 ENSG00000162852 chr1:246647169-246647169;G/T missense_variant False CNOT4@p.Q437E 1 0.107692308 ENSG00000080802 chr7:135394236-135394236;G/C missense_variant False CNOT8@p.F99L 1 0.163636364 ENSG00000155508 chr5:154865371-154865371;C/G missense_variant False CNPY3@p.E131K 1 0.140449438 ENSG00000137161 chr6:42937735-42937735;G/A missense_variant False CNPY2@p.E114K 1 0.15862069 ENSG00000257727 chr12:56311279-56311279;C/T missense_variant False CNPPD1@p.Y135H 1 0.317460317 ENSG00000115649 chr2:219174885-219174885;A/G missense_variant False CNPPD1@p.L174V 1 0.32 ENSG00000115649 chr2:219174198-219174198;G/C missense_variant False CNP@p.P247Qfs*28 1 0.301886792 ENSG00000173786 chr17:41971951-41971951;C/- frameshift_variant False CNP@p.E350Rfs*60 1 0.214285714 ENSG00000173786 chr17:41973704-41973705;-/A frameshift_variant False CNOT6L@p.K288R 1 0.153846154 ENSG00000138767 chr4:77742150-77742150;T/C missense_variant False CNST@p.Q456H 1 0.431279621 ENSG00000162852 chr1:246647569-246647569;G/C missense_variant False CNOT6L@p.D324H 1 0.179104478 ENSG00000138767 chr4:77731441-77731441;C/G missense_variant False CNOT6@p.I489L 1 0.32 ENSG00000113300 chr5:180573991-180573991;A/C missense_variant False CNOT6@p.D155H 1 0.239766082 ENSG00000113300 chr5:180564566-180564566;G/C missense_variant False CNOT4@p.V266L 1 0.273972603 ENSG00000080802 chr7:135410540-135410540;C/A missense_variant False CNOT4@p.R171T 1 0.25 ENSG00000080802 chr7:135414380-135414380;C/G missense_variant False CNOT4@p.Q76E 1 0.053846154 ENSG00000080802 chr7:135422302-135422302;G/C missense_variant False CNPY3@p.K60Q 1 0.260273973 ENSG00000137161 chr6:42934501-42934501;A/C missense_variant False CNPY4@p.E211Q 1 0.62 ENSG00000166997 chr7:100124772-100124772;G/C missense_variant False CNR1@p.D338H 1 0.195402299 ENSG00000118432 chr6:88144263-88144263;C/G missense_variant False CNR1@p.P45Hfs*6 1 0.448717949 ENSG00000118432 chr6:88145141-88145141;G/- frameshift_variant False CNR1@p.Q46H 1 0.276119403 ENSG00000118432 chr6:88145137-88145137;C/G missense_variant False CNR1@p.R405Q 1 0.104166667 ENSG00000118432 chr6:88144061-88144061;C/T missense_variant False CNR2@p.D343N 1 0.376923077 ENSG00000188822 chr1:23874591-23874591;C/T missense_variant False CNR2@p.H226Y 1 0.32 ENSG00000188822 chr1:23874942-23874942;G/A missense_variant False CNR2@p.S161L 1 0.244444444 ENSG00000188822 chr1:23875136-23875136;G/A missense_variant False CNST@p.C555Y 1 0.458333333 ENSG00000162852 chr1:246647865-246647865;G/A missense_variant False CNST@p.E207D 1 0.244094488 ENSG00000162852 chr1:246633928-246633928;G/C missense_variant False CNST@p.E259K 1 0.095238095 ENSG00000162852 chr1:246634544-246634544;G/A missense_variant False CNST@p.E415D 1 0.467213115 ENSG00000162852 chr1:246647446-246647446;G/C missense_variant False CNST@p.E553Q 1 0.416107383 ENSG00000162852 chr1:246647858-246647858;G/C missense_variant False CNST@p.G255E 1 0.287878788 ENSG00000162852 chr1:246634533-246634533;G/A missense_variant False CNST@p.G438D 1 0.318936877 ENSG00000162852 chr1:246647514-246647514;G/A missense_variant False CNST@p.I622T 1 0.542553191 ENSG00000162852 chr1:246660227-246660227;T/C missense_variant False CNKSR3@p.R292C 1 0.384615385 ENSG00000153721 chr6:154422577-154422577;G/A missense_variant False CNKSR3@p.P245A 1 0.27027027 ENSG00000153721 chr6:154422980-154422980;G/C missense_variant False CNKSR3@p.G366E 1 0.290909091 ENSG00000153721 chr6:154411116-154411116;C/T missense_variant False CMSS1@p.R179T 1 0.098360656 ENSG00000184220 chr3:100171856-100171856;G/C missense_variant False CMTM7@p.G143A 1 0.21686747 ENSG00000153551 chr3:32449548-32449548;G/C missense_variant False CMTM6@p.S60L 1 0.275 ENSG00000091317 chr3:32491846-32491846;G/A missense_variant False CMTM5@p.S112L 1 0.348623853 ENSG00000166091 chr14:23378724-23378724;C/T missense_variant False CMTM2@p.G162E 1 0.142857143 ENSG00000140932 chr16:66587037-66587037;G/A missense_variant False CMTM2@p.A232T 1 0.257142857 ENSG00000140932 chr16:66588066-66588066;G/A missense_variant False CMTM1@p.N43Y 1 0.386554622 ENSG00000089505 chr16:66569981-66569981;A/T missense_variant False CMSS1@p.P251S 1 0.513513514 ENSG00000184220 chr3:100176410-100176410;C/T missense_variant False CMKLR1@p.E6K 1 0.158730159 ENSG00000174600 chr12:108292947-108292947;C/T missense_variant False CMSS1@p.L227F 1 0.186046512 ENSG00000184220 chr3:100176340-100176340;G/C missense_variant False CMSS1@p.E33K 1 0.177419355 ENSG00000184220 chr3:100147005-100147005;G/A missense_variant False CMSS1@p.E114K 1 0.195121951 ENSG00000184220 chr3:100162417-100162417;G/A missense_variant False CMPK2@p.R389L 1 0.447368421 ENSG00000134326 chr2:6851510-6851510;C/A missense_variant False CMPK1@p.E73K 1 0.511904762 ENSG00000162368 chr1:47368514-47368514;G/A missense_variant False CMKLR1@p.L56M 1 0.490196078 ENSG00000174600 chr12:108292797-108292797;G/T missense_variant False CMTM8@p.S26N 1 0.5 ENSG00000170293 chr3:32239049-32239049;G/A missense_variant False CMTR1@p.D186H 1 0.269662921 ENSG00000137200 chr6:37451824-37451824;G/C missense_variant False CMTR1@p.E138K 1 0.493055556 ENSG00000137200 chr6:37446417-37446417;G/A missense_variant False CMTR1@p.E711K 1 0.155 ENSG00000137200 chr6:37477617-37477617;G/A missense_variant False CMTR1@p.N439Y 1 0.427272727 ENSG00000137200 chr6:37462092-37462092;A/T missense_variant False CMTR1@p.R346W 1 0.242063492 ENSG00000137200 chr6:37459625-37459625;C/T missense_variant False CMTR2@p.E312K 1 0.337078652 ENSG00000180917 chr16:71284987-71284987;C/T missense_variant False CMTR2@p.L266R 1 0.326315789 ENSG00000180917 chr16:71285124-71285124;A/C missense_variant False CMYA5@p.D1306N 1 0.375 ENSG00000164309 chr5:79732681-79732681;G/A missense_variant False CMYA5@p.D2857N 1 0.410526316 ENSG00000164309 chr5:79737334-79737334;G/A missense_variant False CMYA5@p.D2975H 1 0.323529412 ENSG00000164309 chr5:79737688-79737688;G/C missense_variant False CMYA5@p.E1879K 1 0.357142857 ENSG00000164309 chr5:79734400-79734400;G/A missense_variant False CMYA5@p.E2001K 1 0.22 ENSG00000164309 chr5:79734766-79734766;G/A missense_variant False CMYA5@p.G3163E 1 0.216216216 ENSG00000164309 chr5:79738253-79738253;G/A missense_variant False CMYA5@p.I3920F 1 0.193548387 ENSG00000164309 chr5:79791038-79791038;A/T missense_variant False CMYA5@p.L1413V 1 0.25 ENSG00000164309 chr5:79733002-79733002;C/G missense_variant False CMYA5@p.L1861F 1 0.18 ENSG00000164309 chr5:79734348-79734348;G/T missense_variant False CMKLR1@p.K113N 1 0.290598291 ENSG00000174600 chr12:108292624-108292624;C/G missense_variant False CMKLR1@p.A159P 1 0.156862745 ENSG00000174600 chr12:108292488-108292488;C/G missense_variant False CMYA5@p.P1426A 1 0.3 ENSG00000164309 chr5:79733041-79733041;C/G missense_variant False CLUL1@p.E345K 1 0.203703704 ENSG00000079101 chr18:641365-641365;G/A missense_variant False CLVS2@p.F169L 1 0.125 ENSG00000146352 chr6:123011102-123011102;C/A missense_variant False CLVS1@p.S320L 1 0.326530612 ENSG00000177182 chr8:61458524-61458524;C/T missense_variant False CLVS1@p.R78I 1 0.64 ENSG00000177182 chr8:61300060-61300060;G/T missense_variant False CLVS1@p.R216G 1 0.603076923 ENSG00000177182 chr8:61454156-61454156;C/G missense_variant False CLVS1@p.E339Q 1 0.130434783 ENSG00000177182 chr8:61499492-61499492;G/C missense_variant False CLUL1@p.E396Q 1 0.42 ENSG00000079101 chr18:641518-641518;G/C missense_variant False CLUL1@p.E208Q 1 0.260869565 ENSG00000079101 chr18:627295-627295;G/C missense_variant False CMIP@p.M441I 1 0.444444444 ENSG00000153815 chr16:81678563-81678563;G/A missense_variant False CLUL1@p.D44N 1 0.258064516 ENSG00000079101 chr18:619236-619236;G/A missense_variant False CLUH@p.S1295F 1 0.210526316 ENSG00000132361 chr17:2690640-2690640;G/A missense_variant False CLUH@p.R780Hfs*32 1 0.247058824 ENSG00000132361 chr17:2695462-2695463;-/GCAT frameshift_variant False CLUH@p.Q44E 1 0.3 ENSG00000132361 chr17:2704421-2704421;G/C missense_variant False CLUH@p.E72D 1 0.125 ENSG00000132361 chr17:2703463-2703463;C/G missense_variant False CLUH@p.C1022Y 1 0.258064516 ENSG00000132361 chr17:2693949-2693949;C/T missense_variant False CLVS2@p.I140M 1 0.201834862 ENSG00000146352 chr6:123011015-123011015;C/G missense_variant False CLVS2@p.L111P 1 0.157142857 ENSG00000146352 chr6:122998109-122998109;T/C missense_variant False CLVS2@p.L47V 1 0.534090909 ENSG00000146352 chr6:122997916-122997916;C/G missense_variant False CLVS2@p.N125Y 1 0.375 ENSG00000146352 chr6:122998150-122998150;A/T missense_variant False CLVS2@p.R79W 1 0.06185567 ENSG00000146352 chr6:122998012-122998012;C/T missense_variant False CLVS2@p.S173Y 1 0.698113208 ENSG00000146352 chr6:123011113-123011113;C/A missense_variant False CLYBL@p.D149E 1 0.055555556 ENSG00000125246 chr13:99862999-99862999;C/G missense_variant False CLYBL@p.E295K 1 0.242718447 ENSG00000125246 chr13:99871018-99871018;G/A missense_variant False CLYBL@p.L238P 1 0.226804124 ENSG00000125246 chr13:99866318-99866318;T/C missense_variant False CLYBL@p.L243V 1 0.088082902 ENSG00000125246 chr13:99866332-99866332;C/G missense_variant False CMAS@p.E128Q 1 0.205882353 ENSG00000111726 chr12:22055270-22055270;G/C missense_variant False CMBL@p.E232K 1 0.309859155 ENSG00000164237 chr5:10280497-10280497;C/T missense_variant False CMC4@p.K16Q 1 0.060773481 ENSG00000182712 chrX:155063978-155063978;T/G missense_variant False CMIP@p.C719R 1 0.4375 ENSG00000153815 chr16:81705562-81705562;T/C missense_variant False CMIP@p.D700N 1 0.555555556 ENSG00000153815 chr16:81705505-81705505;G/A missense_variant False CMIP@p.E444Q 1 0.5 ENSG00000153815 chr16:81678570-81678570;G/C missense_variant False CMIP@p.L476S 1 0.380952381 ENSG00000153815 chr16:81691813-81691813;T/C missense_variant False CMYA5@p.N3062Y 1 0.125 ENSG00000164309 chr5:79737949-79737949;A/T missense_variant False CMYA5@p.R260G 1 0.413793103 ENSG00000164309 chr5:79729543-79729543;A/G missense_variant False CNKSR3@p.F387S 1 0.216216216 ENSG00000153721 chr6:154411053-154411053;A/G missense_variant False CNGB1@p.N986Y 1 0.294642857 ENSG00000070729 chr16:57901372-57901372;T/A missense_variant False CNGB3@p.I69M 1 0.5 ENSG00000170289 chr8:86739659-86739659;T/C missense_variant False CNGB3@p.I637T 1 0.225913621 ENSG00000170289 chr8:86579124-86579124;A/G missense_variant False CNGB3@p.I262M 1 0.104651163 ENSG00000170289 chr8:86666991-86666991;G/C missense_variant False CNGB3@p.D523N 1 0.357142857 ENSG00000170289 chr8:86625994-86625994;C/T missense_variant False CNGB3@p.A160S 1 0.438888889 ENSG00000170289 chr8:86670959-86670959;C/A missense_variant False CNGB1@p.S177A 1 0.333333333 ENSG00000070729 chr16:57960845-57960845;A/C missense_variant False CNGB1@p.M970I 1 0.122699387 ENSG00000070729 chr16:57901418-57901418;C/T missense_variant False CNGA3@p.M424T 1 0.365384615 ENSG00000144191 chr2:98396441-98396441;T/C missense_variant False CNGB1@p.E466Q 1 0.416666667 ENSG00000070729 chr16:57931855-57931855;C/G missense_variant False CNGB1@p.E36Q 1 0.217391304 ENSG00000070729 chr16:57967181-57967181;C/G missense_variant False CNGB1@p.E1217K 1 0.5625 ENSG00000070729 chr16:57884271-57884271;C/T missense_variant False CNGB1@p.D973N 1 0.24738676 ENSG00000070729 chr16:57901411-57901411;C/T missense_variant False CNGB1@p.D749G 1 0.666666667 ENSG00000070729 chr16:57915307-57915307;T/C missense_variant False CNGB1@p.D1182N 1 0.208333333 ENSG00000070729 chr16:57884376-57884376;C/T missense_variant False CNGB3@p.S34T 1 0.38961039 ENSG00000170289 chr8:86743527-86743527;C/G missense_variant False CNIH2@p.F78L 1 0.123595506 ENSG00000174871 chr11:66283070-66283070;C/G missense_variant False CNIH3@p.D118N 1 0.424657534 ENSG00000143786 chr1:224734603-224734603;G/A missense_variant False CNIH4@p.Y34C 1 0.255172414 ENSG00000143771 chr1:224360526-224360526;A/G missense_variant False CNKSR1@p.E211K 1 0.456692913 ENSG00000142675 chr1:26183203-26183203;G/A missense_variant False CNKSR1@p.E641K 1 0.145833333 ENSG00000142675 chr1:26189306-26189306;G/A missense_variant False CNKSR1@p.I109V 1 0.285714286 ENSG00000142675 chr1:26180829-26180829;A/G missense_variant False CNKSR1@p.S695C 1 0.303030303 ENSG00000142675 chr1:26189469-26189469;C/G missense_variant False CNKSR2@p.A919P 1 0.333333333 ENSG00000149970 chrX:21648893-21648893;G/C missense_variant False CNKSR2@p.D285H 1 0.2 ENSG00000149970 chrX:21516527-21516527;G/C missense_variant False CNKSR2@p.I103T 1 0.883116883 ENSG00000149970 chrX:21432691-21432691;T/C missense_variant False CNKSR2@p.R632H 1 0.5 ENSG00000149970 chrX:21595038-21595038;G/A missense_variant False CNKSR2@p.R729Q 1 0.161290323 ENSG00000149970 chrX:21609111-21609111;G/A missense_variant False CNKSR2@p.S154L 1 0.441176471 ENSG00000149970 chrX:21440723-21440723;C/T missense_variant False CNKSR2@p.T492K 1 0.461538462 ENSG00000149970 chrX:21563319-21563319;C/A missense_variant False CNKSR2@p.V279L 1 0.098039216 ENSG00000149970 chrX:21516509-21516509;G/C missense_variant False CNKSR3@p.E33Q 1 0.230769231 ENSG00000153721 chr6:154450214-154450214;C/G missense_variant False CNGA3@p.S560L 1 0.395454545 ENSG00000144191 chr2:98396849-98396849;C/T missense_variant False CNGA3@p.E586Q 1 0.185185185 ENSG00000144191 chr2:98396926-98396926;G/C missense_variant False CMYA5@p.S1060L 1 0.212765957 ENSG00000164309 chr5:79731944-79731944;C/T missense_variant False CNBD1@p.I111L 1 0.367346939 ENSG00000176571 chr8:86939654-86939654;A/T missense_variant False CNBD2@p.L193M 1 0.115384615 ENSG00000149646 chr20:35984639-35984639;C/A missense_variant False CNBD2@p.G42E 1 0.350364964 ENSG00000149646 chr20:35972702-35972702;G/A missense_variant False CNBD2@p.E103Q 1 0.307692308 ENSG00000149646 chr20:35980522-35980522;G/C missense_variant False CNBD2@p.D249N 1 0.131578947 ENSG00000149646 chr20:35987423-35987423;G/A missense_variant False CNBD1@p.W261C 1 0.315789474 ENSG00000176571 chr8:87284689-87284689;G/C missense_variant False CNBD1@p.L396R 1 0.2 ENSG00000176571 chr8:87353670-87353670;T/G missense_variant False CNBD1@p.F413L 1 0.473684211 ENSG00000176571 chr8:87353722-87353722;C/A missense_variant False CNGA3@p.A621T 1 0.785714286 ENSG00000144191 chr2:98397031-98397031;G/A missense_variant False CNBD1@p.E248D 1 0.547945205 ENSG00000176571 chr8:87237085-87237085;G/T missense_variant False CMYA5@p.V2079L 1 0.517241379 ENSG00000164309 chr5:79735000-79735000;G/T missense_variant False CMYA5@p.S750C 1 0.38 ENSG00000164309 chr5:79731014-79731014;C/G missense_variant False CMYA5@p.S2368G 1 0.243902439 ENSG00000164309 chr5:79735867-79735867;A/G missense_variant False CMYA5@p.S2360Y 1 0.520833333 ENSG00000164309 chr5:79735844-79735844;C/A missense_variant False CMYA5@p.S1981F 1 0.313432836 ENSG00000164309 chr5:79734707-79734707;C/T missense_variant False CNBD2@p.R37C 1 0.477011494 ENSG00000149646 chr20:35972686-35972686;C/T missense_variant False CNBP@p.H166N 1 0.184415584 ENSG00000169714 chr3:129170491-129170491;G/T missense_variant False CNDP1@p.A205T 1 0.559322034 ENSG00000150656 chr18:74567290-74567290;G/A missense_variant False CNDP1@p.G294E 1 0.460526316 ENSG00000150656 chr18:74576908-74576908;G/A missense_variant False CNDP1@p.S262L 1 0.178947368 ENSG00000150656 chr18:74571214-74571214;C/T missense_variant False CNDP2@p.D195N 1 0.309859155 ENSG00000133313 chr18:74510939-74510939;G/A missense_variant False CNDP2@p.F217V 1 0.40625 ENSG00000133313 chr18:74511005-74511005;T/G missense_variant False CNDP2@p.L411F 1 0.52 ENSG00000133313 chr18:74518971-74518971;G/C missense_variant False CNDP2@p.R17C 1 0.393939394 ENSG00000133313 chr18:74500022-74500022;C/T missense_variant False CNFN@p.R111Q 1 0.552631579 ENSG00000105427 chr19:42387160-42387160;C/T missense_variant False CNGA1@p.S157L 1 0.35106383 ENSG00000198515 chr4:47942116-47942116;G/A missense_variant False CNGA1@p.Y174D 1 0.065217391 ENSG00000198515 chr4:47942066-47942066;A/C missense_variant False CNGA2@p.D457Y 1 0.950819672 ENSG00000183862 chrX:151743872-151743872;G/T missense_variant False CNGA2@p.E657Q 1 0.333333333 ENSG00000183862 chrX:151744472-151744472;G/C missense_variant False CNGA2@p.F385L 1 0.24137931 ENSG00000183862 chrX:151743658-151743658;C/A missense_variant False CNGA2@p.H19Y 1 0.685185185 ENSG00000183862 chrX:151738538-151738538;C/T missense_variant False CNGA3@p.A28V 1 0.416666667 ENSG00000144191 chr2:98370058-98370058;C/T missense_variant False CNTN2@p.D954N 1 0.529411765 ENSG00000184144 chr1:205073083-205073083;G/A missense_variant False CNTN2@p.G319D 1 0.346153846 ENSG00000184144 chr1:205061403-205061403;G/A missense_variant False COL16A1@p.D406E 1 0.295774648 ENSG00000084636 chr1:31692044-31692044;G/T missense_variant False COG7@p.A194T 1 0.45045045 ENSG00000168434 chr16:23442501-23442501;C/T missense_variant False COG8@p.Q214R 1 0.380952381 ENSG00000213380 chr16:69335293-69335293;T/C missense_variant False COG8@p.L175V 1 0.5 ENSG00000213380 chr16:69336567-69336567;G/C missense_variant False COG8@p.F84L 1 0.111111111 ENSG00000213380 chr16:69339301-69339301;G/C missense_variant False COG7@p.V90I 1 0.173913043 ENSG00000168434 chr16:23445863-23445863;C/T missense_variant False COG7@p.K96Nfs*14 1 0.301587302 ENSG00000168434 chr16:23445843-23445843;T/- frameshift_variant False COG7@p.D520N 1 0.342857143 ENSG00000168434 chr16:23406180-23406180;C/T missense_variant False COG6@p.M215T 1 0.237288136 ENSG00000133103 chr13:39679995-39679995;T/C missense_variant False COG8@p.S9L 1 0.826086957 ENSG00000213380 chr16:69339527-69339527;G/A missense_variant False COG5@p.T514I 1 0.36 ENSG00000164597 chr7:107281334-107281334;G/A missense_variant False COG5@p.Q89E 1 0.431372549 ENSG00000164597 chr7:107554312-107554312;G/C missense_variant False COG5@p.Q227E 1 0.355555556 ENSG00000164597 chr7:107372751-107372751;G/C missense_variant False COG5@p.N510T 1 0.397727273 ENSG00000164597 chr7:107281346-107281346;T/G missense_variant False COG5@p.L539F 1 0.17699115 ENSG00000164597 chr7:107258344-107258344;G/A missense_variant False COG5@p.L443F 1 0.165413534 ENSG00000164597 chr7:107283717-107283717;C/G missense_variant False COG8@p.R481C 1 0.473684211 ENSG00000213380 chr16:69332855-69332855;G/A missense_variant False COG8@p.T260A 1 0.152542373 ENSG00000213380 chr16:69335156-69335156;T/C missense_variant False CNTN2@p.R432G 1 0.302083333 ENSG00000184144 chr1:205064375-205064375;C/G missense_variant False COL11A1@p.C182R 1 0.466666667 ENSG00000060718 chr1:103074725-103074725;A/G missense_variant False COL11A1@p.E1764D 1 0.384615385 ENSG00000060718 chr1:102878148-102878148;T/G missense_variant False COL11A1@p.E1666K 1 0.276595745 ENSG00000060718 chr1:102881741-102881741;C/T missense_variant False COL11A1@p.E1133K 1 0.297520661 ENSG00000060718 chr1:102939076-102939076;C/T missense_variant False COL11A1@p.D810Y 1 0.235294118 ENSG00000060718 chr1:102987707-102987707;C/A missense_variant False COL11A1@p.D191N 1 0.35483871 ENSG00000060718 chr1:103074698-103074698;C/T missense_variant False COL11A1@p.D1782H 1 0.488888889 ENSG00000060718 chr1:102878096-102878096;C/G missense_variant False COL11A1@p.A1119V 1 0.333333333 ENSG00000060718 chr1:102940355-102940355;G/A missense_variant False COG8@p.T6S 1 0.166666667 ENSG00000213380 chr16:69339536-69339536;G/C missense_variant False COL10A1@p.S103L 1 0.52 ENSG00000123500 chr6:116121808-116121808;G/A missense_variant False COL10A1@p.R56K 1 0.054545455 ENSG00000123500 chr6:116121949-116121949;C/T missense_variant False COIL@p.S248L 1 0.055555556 ENSG00000121058 chr17:56950499-56950499;G/A missense_variant False COIL@p.L515V 1 0.257383966 ENSG00000121058 chr17:56946457-56946457;G/C missense_variant False COIL@p.L515F 1 0.224669604 ENSG00000121058 chr17:56946457-56946457;G/A missense_variant False COIL@p.E534K 1 0.377777778 ENSG00000121058 chr17:56942082-56942082;C/T missense_variant False COG5@p.G380E 1 0.302325581 ENSG00000164597 chr7:107298316-107298316;C/T missense_variant False COG5@p.E593Q 1 0.428571429 ENSG00000164597 chr7:107248409-107248409;C/G missense_variant False COG5@p.D690N 1 0.121052632 ENSG00000164597 chr7:107230652-107230652;C/T missense_variant False COBLL1@p.T852S 1 0.446428571 ENSG00000082438 chr2:164695065-164695065;G/C missense_variant False COG1@p.L845V 1 0.253731343 ENSG00000166685 chr17:73206176-73206176;C/G missense_variant False COG1@p.I127N 1 0.370192308 ENSG00000166685 chr17:73196571-73196571;T/A missense_variant False COG1@p.F613L 1 0.911764706 ENSG00000166685 chr17:73201666-73201666;C/G missense_variant False COCH@p.V327I 1 0.285714286 ENSG00000100473 chr14:30885444-30885444;G/A missense_variant False COCH@p.S441C 1 0.33 ENSG00000100473 chr14:30885961-30885961;A/T missense_variant False COCH@p.R213Q 1 0.487804878 ENSG00000100473 chr14:30880458-30880458;G/A missense_variant False COBLL1@p.T137A 1 0.323076923 ENSG00000082438 chr2:164730051-164730051;T/C missense_variant False COG5@p.D581H 1 0.128440367 ENSG00000164597 chr7:107248445-107248445;C/G missense_variant False COBLL1@p.S743L 1 0.357575758 ENSG00000082438 chr2:164695392-164695392;G/A missense_variant False COBLL1@p.S1082L 1 0.574074074 ENSG00000082438 chr2:164694375-164694375;G/A missense_variant False COBLL1@p.R284C 1 0.170731707 ENSG00000082438 chr2:164722448-164722448;G/A missense_variant False COBLL1@p.Q681H 1 0.152284264 ENSG00000082438 chr2:164695577-164695577;C/G missense_variant False COBLL1@p.Q208P 1 0.282051282 ENSG00000082438 chr2:164728121-164728121;T/G missense_variant False COBLL1@p.P994S 1 0.121212121 ENSG00000082438 chr2:164694640-164694640;G/A missense_variant False COG1@p.Q139E 1 0.159090909 ENSG00000166685 chr17:73196606-73196606;C/G missense_variant False COG1@p.R234T 1 0.120481928 ENSG00000166685 chr17:73197040-73197040;G/C missense_variant False COG1@p.R758W 1 0.139784946 ENSG00000166685 chr17:73203683-73203683;C/T missense_variant False COG1@p.S319T 1 0.180722892 ENSG00000166685 chr17:73199907-73199907;G/C missense_variant False COG1@p.S610L 1 0.407407407 ENSG00000166685 chr17:73201656-73201656;C/T missense_variant False COG2@p.E21K 1 0.285714286 ENSG00000135775 chr1:230642667-230642667;G/A missense_variant False COG2@p.K730R 1 0.2 ENSG00000135775 chr1:230693365-230693365;A/G missense_variant False COG2@p.P409S 1 0.305194805 ENSG00000135775 chr1:230683632-230683632;C/T missense_variant False COG2@p.S315F 1 0.236263736 ENSG00000135775 chr1:230675042-230675042;C/T missense_variant False COG3@p.Q118E 1 0.428571429 ENSG00000136152 chr13:45479035-45479035;C/G missense_variant False COG3@p.S318C 1 0.263157895 ENSG00000136152 chr13:45490943-45490943;C/G missense_variant False COG4@p.A588V 1 0.148387097 ENSG00000103051 chr16:70483917-70483917;G/A missense_variant False COG4@p.E642Q 1 0.08 ENSG00000103051 chr16:70482172-70482172;C/G missense_variant False COG4@p.L150F 1 0.071428571 ENSG00000103051 chr16:70514429-70514429;C/G missense_variant False COG4@p.M664I 1 0.152777778 ENSG00000103051 chr16:70482104-70482104;C/G missense_variant False COG4@p.P12A 1 0.192307692 ENSG00000103051 chr16:70523510-70523510;G/C missense_variant False COG5@p.D428H 1 0.131736527 ENSG00000164597 chr7:107298173-107298173;C/G missense_variant False COL11A1@p.E361K 1 0.404255319 ENSG00000060718 chr1:103022906-103022906;C/T missense_variant False COL11A1@p.E400Q 1 0.243697479 ENSG00000060718 chr1:103022789-103022789;C/G missense_variant False COL11A1@p.E413K 1 0.353658537 ENSG00000060718 chr1:103022750-103022750;C/T missense_variant False COL14A1@p.E121Kfs*27 1 0.151724138 ENSG00000187955 chr8:120168172-120168172;G/- frameshift_variant False COL14A1@p.I266F 1 0.145454545 ENSG00000187955 chr8:120199485-120199485;A/T missense_variant False COL14A1@p.G1515V 1 0.186440678 ENSG00000187955 chr8:120314020-120314020;G/T missense_variant False COL14A1@p.E438K 1 0.2125 ENSG00000187955 chr8:120208352-120208352;G/A missense_variant False COL14A1@p.E209K 1 0.161538462 ENSG00000187955 chr8:120197843-120197843;G/A missense_variant False COL14A1@p.E1691K 1 0.272727273 ENSG00000187955 chr8:120345557-120345557;G/A missense_variant False COL14A1@p.E1442K 1 0.076595745 ENSG00000187955 chr8:120300741-120300741;G/A missense_variant False COL14A1@p.D1419H 1 0.205128205 ENSG00000187955 chr8:120297529-120297529;G/C missense_variant False COL12A1@p.S395L 1 0.423312883 ENSG00000111799 chr6:75183958-75183958;G/A missense_variant False COL14A1@p.D1242Y 1 0.636363636 ENSG00000187955 chr8:120280959-120280959;G/T missense_variant False COL14A1@p.D1148H 1 0.510869565 ENSG00000187955 chr8:120278539-120278539;G/C missense_variant False COL14A1@p.D1098H 1 0.397058824 ENSG00000187955 chr8:120278189-120278189;G/C missense_variant False COL14A1@p.A1186T 1 0.155844156 ENSG00000187955 chr8:120280009-120280009;G/A missense_variant False COL13A1@p.R320W 1 0.25 ENSG00000197467 chr10:69917295-69917295;C/T missense_variant False COL13A1@p.R168T 1 0.466666667 ENSG00000197467 chr10:69887472-69887472;G/C missense_variant False COL14A1@p.L1055I 1 0.136363636 ENSG00000187955 chr8:120270124-120270124;C/A missense_variant False COL14A1@p.P1752S 1 0.402439024 ENSG00000187955 chr8:120369428-120369428;C/T missense_variant False COL14A1@p.P614R 1 0.366666667 ENSG00000187955 chr8:120225191-120225191;C/G missense_variant False COL14A1@p.Q152E 1 0.189189189 ENSG00000187955 chr8:120196808-120196808;C/G missense_variant False COL14A1@p.R384K 1 0.146341463 ENSG00000187955 chr8:120207054-120207054;G/A missense_variant False COL14A1@p.S405C 1 0.470588235 ENSG00000187955 chr8:120208254-120208254;C/G missense_variant False COL14A1@p.S829F 1 0.098039216 ENSG00000187955 chr8:120247619-120247619;C/T missense_variant False COL14A1@p.T848M 1 0.523809524 ENSG00000187955 chr8:120247676-120247676;C/T missense_variant False COL15A1@p.A889T 1 0.15 ENSG00000204291 chr9:99044756-99044756;G/A missense_variant False COL15A1@p.E171K 1 0.21 ENSG00000204291 chr9:98985975-98985975;G/A missense_variant False COL15A1@p.E251D 1 0.133333333 ENSG00000204291 chr9:98989207-98989207;G/T missense_variant False COL15A1@p.E376K 1 0.123076923 ENSG00000204291 chr9:99003513-99003513;G/A missense_variant False COL15A1@p.E496K 1 0.444444444 ENSG00000204291 chr9:99015549-99015549;G/A missense_variant False COL15A1@p.K896E 1 0.402439024 ENSG00000204291 chr9:99047792-99047792;A/G missense_variant False COL15A1@p.L459V 1 0.194444444 ENSG00000204291 chr9:99015438-99015438;T/G missense_variant False COL15A1@p.T44M 1 0.363636364 ENSG00000204291 chr9:98985595-98985595;C/T missense_variant False COL16A1@p.C556Y 1 0.160714286 ENSG00000084636 chr1:31688961-31688961;C/T missense_variant False COL12A1@p.Y2516H 1 0.306122449 ENSG00000111799 chr6:75116031-75116031;A/G missense_variant False COL12A1@p.S1680L 1 0.1 ENSG00000111799 chr6:75138880-75138880;G/A missense_variant False COL11A1@p.E441K 1 0.208955224 ENSG00000060718 chr1:103018847-103018847;C/T missense_variant False COL11A1@p.P606L 1 0.311688312 ENSG00000060718 chr1:103005866-103005866;G/A missense_variant False COL11A2@p.E569K 1 0.149659864 ENSG00000204248 chr6:33178693-33178693;C/T missense_variant False COL11A2@p.A106V 1 0.435897436 ENSG00000204248 chr6:33189104-33189104;G/A missense_variant False COL11A1@p.S776C 1 0.141891892 ENSG00000060718 chr1:102995877-102995877;G/C missense_variant False COL11A1@p.R651P 1 0.461538462 ENSG00000060718 chr1:103003261-103003261;C/G missense_variant False COL11A1@p.Q1181K 1 0.3125 ENSG00000060718 chr1:102934508-102934508;G/T missense_variant False COL11A1@p.P91S 1 0.15625 ENSG00000060718 chr1:103082808-103082808;G/A missense_variant False COL11A1@p.P455S 1 0.335294118 ENSG00000060718 chr1:103017870-103017870;G/A missense_variant False COL12A1@p.S1389C 1 0.205882353 ENSG00000111799 chr6:75148479-75148479;G/C missense_variant False COL11A1@p.M632I 1 0.333333333 ENSG00000060718 chr1:103004611-103004611;C/A missense_variant False COL11A1@p.K183N 1 0.171428571 ENSG00000060718 chr1:103074720-103074720;C/G missense_variant False COL11A1@p.G778C 1 0.570093458 ENSG00000060718 chr1:102995872-102995872;C/A missense_variant False COL11A1@p.G688R 1 0.5 ENSG00000060718 chr1:103002463-103002463;C/G missense_variant False COL11A1@p.G532S 1 0.275 ENSG00000060718 chr1:103012448-103012448;C/T missense_variant False COL11A1@p.G128C 1 0.188679245 ENSG00000060718 chr1:103078764-103078764;C/A missense_variant False COL11A2@p.F84L 1 0.142857143 ENSG00000204248 chr6:33189169-33189169;G/C missense_variant False COL11A2@p.P1268A 1 0.347826087 ENSG00000204248 chr6:33169005-33169005;G/C missense_variant False COL11A2@p.P133S 1 0.637362637 ENSG00000204248 chr6:33189024-33189024;G/A missense_variant False COL11A2@p.P1352L 1 0.173913043 ENSG00000204248 chr6:33167493-33167493;G/A missense_variant False COL11A2@p.R1724Q 1 0.296296296 ENSG00000204248 chr6:33163718-33163718;C/T missense_variant False COL11A2@p.R776C 1 0.692307692 ENSG00000204248 chr6:33175624-33175624;G/A missense_variant False COL12A1@p.F2326L 1 0.237288136 ENSG00000111799 chr6:75121410-75121410;G/C missense_variant False COL12A1@p.G1136A 1 0.212543554 ENSG00000111799 chr6:75155698-75155698;C/G missense_variant False COL12A1@p.G1310E 1 0.194029851 ENSG00000111799 chr6:75151938-75151938;C/T missense_variant False COL12A1@p.G2975E 1 0.341346154 ENSG00000111799 chr6:75090127-75090127;C/T missense_variant False COL12A1@p.K2384T 1 0.070707071 ENSG00000111799 chr6:75119409-75119409;T/G missense_variant False COL12A1@p.M1582I 1 0.441558442 ENSG00000111799 chr6:75143333-75143333;C/A missense_variant False COL12A1@p.P1915T 1 0.301075269 ENSG00000111799 chr6:75133344-75133344;G/T missense_variant False COL12A1@p.Q857K 1 0.413793103 ENSG00000111799 chr6:75175179-75175179;G/T missense_variant False COL12A1@p.R1031C 1 0.253521127 ENSG00000111799 chr6:75156416-75156416;G/A missense_variant False COL12A1@p.R581C 1 0.262135922 ENSG00000111799 chr6:75183200-75183200;G/A missense_variant False COL12A1@p.S134Y 1 0.309278351 ENSG00000111799 chr6:75189809-75189809;G/T missense_variant False COBLL1@p.P339S 1 0.148648649 ENSG00000082438 chr2:164722170-164722170;G/A missense_variant False COBLL1@p.L586S 1 0.214765101 ENSG00000082438 chr2:164699434-164699434;A/G missense_variant False COBLL1@p.D1116H 1 0.214285714 ENSG00000082438 chr2:164694274-164694274;C/G missense_variant False CNTNAP1@p.P1375L 1 0.353383459 ENSG00000108797 chr17:42698879-42698879;C/T missense_variant False CNTNAP2@p.C936Y 1 0.109756098 ENSG00000174469 chr7:148172275-148172275;G/A missense_variant False CNTNAP2@p.A380V 1 0.198019802 ENSG00000174469 chr7:147132300-147132300;C/T missense_variant False CNTNAP1@p.T982M 1 0.125984252 ENSG00000108797 chr17:42693489-42693489;C/T missense_variant False CNTNAP1@p.T747I 1 0.166666667 ENSG00000108797 chr17:42691407-42691407;C/T missense_variant False CNTNAP1@p.R879W 1 0.555555556 ENSG00000108797 chr17:42692603-42692603;C/T missense_variant False CNTNAP1@p.R428Q 1 0.081081081 ENSG00000108797 chr17:42687958-42687958;G/A missense_variant False CNTNAP1@p.L752V 1 0.238095238 ENSG00000108797 chr17:42691421-42691421;C/G missense_variant False CNTN6@p.G642C 1 0.488095238 ENSG00000134115 chr3:1373741-1373741;G/T missense_variant False CNTNAP1@p.G1081V 1 0.15625 ENSG00000108797 chr17:42695770-42695770;G/T missense_variant False CNTNAP1@p.E467Q 1 0.161904762 ENSG00000108797 chr17:42688554-42688554;G/C missense_variant False CNTNAP1@p.E216K 1 0.47826087 ENSG00000108797 chr17:42685351-42685351;G/A missense_variant False CNTN6@p.Y349N 1 0.188679245 ENSG00000134115 chr3:1325913-1325913;T/A missense_variant False CNTN6@p.P505Q 1 0.340909091 ENSG00000134115 chr3:1372320-1372320;C/A missense_variant False CNTN6@p.N200T 1 0.1875 ENSG00000134115 chr3:1295745-1295745;A/C missense_variant False CNTNAP2@p.D1315E 1 0.189189189 ENSG00000174469 chr7:148415565-148415565;C/A missense_variant False CNTNAP2@p.D746N 1 0.204545455 ENSG00000174469 chr7:147903702-147903702;G/A missense_variant False CNTNAP2@p.E1324K 1 0.066666667 ENSG00000174469 chr7:148415590-148415590;G/A missense_variant False CNTNAP2@p.E838Q 1 0.298507463 ENSG00000174469 chr7:148118246-148118246;G/C missense_variant False CNTNAP2@p.E950K 1 0.24137931 ENSG00000174469 chr7:148172316-148172316;G/A missense_variant False CNTNAP2@p.E982Q 1 0.171052632 ENSG00000174469 chr7:148172412-148172412;G/C missense_variant False CNTNAP2@p.F48L 1 0.347826087 ENSG00000174469 chr7:146774317-146774317;C/A missense_variant False CNTNAP2@p.H414R 1 0.378787879 ENSG00000174469 chr7:147132402-147132402;A/G missense_variant False CNTNAP2@p.M442I 1 0.351351351 ENSG00000174469 chr7:147132487-147132487;G/A missense_variant False CNTNAP2@p.Q83E 1 0.126984127 ENSG00000174469 chr7:146839749-146839749;C/G missense_variant False CNTNAP2@p.R915H 1 0.463414634 ENSG00000174469 chr7:148147680-148147680;G/A missense_variant False CNTNAP2@p.S278F 1 0.126582278 ENSG00000174469 chr7:147121057-147121057;C/T missense_variant False CNTNAP2@p.S367C 1 0.338028169 ENSG00000174469 chr7:147132261-147132261;C/G missense_variant False CNTNAP2@p.S509I 1 0.404761905 ENSG00000174469 chr7:147395636-147395636;G/T missense_variant False CNTNAP2@p.S992F 1 0.093023256 ENSG00000174469 chr7:148172443-148172443;C/T missense_variant False CNTNAP2@p.V211F 1 0.404255319 ENSG00000174469 chr7:147108227-147108227;G/T missense_variant False CNTNAP2@p.Y372N 1 0.271604938 ENSG00000174469 chr7:147132275-147132275;T/A missense_variant False CNTN6@p.H1010N 1 0.618421053 ENSG00000134115 chr3:1403359-1403359;C/A missense_variant False CNTN6@p.E691Q 1 0.148514851 ENSG00000134115 chr3:1374049-1374049;G/C missense_variant False CNTNAP3@p.D1094H 1 0.681818182 ENSG00000283378 chr9:39086790-39086790;C/G missense_variant False CNTN3@p.R76C 1 0.129411765 ENSG00000113805 chr3:74486588-74486588;G/A missense_variant False CNTN4@p.F638Sfs*27 1 0.42 ENSG00000144619 chr3:3034759-3034759;A/- frameshift_variant False CNTN4@p.E550Q 1 0.550561798 ENSG00000144619 chr3:3026263-3026263;G/C missense_variant False CNTN4@p.E330Q 1 0.09375 ENSG00000144619 chr3:2900732-2900732;G/C missense_variant False CNTN4@p.E185Q 1 0.085714286 ENSG00000144619 chr3:2866850-2866850;G/C missense_variant False CNTN3@p.Y336H 1 0.307692308 ENSG00000113805 chr3:74365643-74365643;A/G missense_variant False CNTN3@p.S617Y 1 0.145833333 ENSG00000113805 chr3:74301742-74301742;G/T missense_variant False CNTN3@p.R263K 1 0.098901099 ENSG00000113805 chr3:74369347-74369347;C/T missense_variant False CNTN6@p.E460Q 1 0.294117647 ENSG00000134115 chr3:1352337-1352337;G/C missense_variant False CNTN3@p.P686Q 1 0.188118812 ENSG00000113805 chr3:74301436-74301436;G/T missense_variant False CNTN3@p.N783H 1 0.377777778 ENSG00000113805 chr3:74298011-74298011;T/G missense_variant False CNTN3@p.E930K 1 0.11 ENSG00000113805 chr3:74267295-74267295;C/T missense_variant False CNTN3@p.E696G 1 0.241758242 ENSG00000113805 chr3:74301406-74301406;T/C missense_variant False CNTN2@p.W852C 1 0.333333333 ENSG00000184144 chr1:205071958-205071958;G/C missense_variant False CNTN2@p.T676N 1 0.317829457 ENSG00000184144 chr1:205067152-205067152;C/A missense_variant False CNTN4@p.L664F 1 0.036036036 ENSG00000144619 chr3:3037228-3037228;G/C missense_variant False CNTN4@p.P232T 1 0.159090909 ENSG00000144619 chr3:2883186-2883186;C/A missense_variant False CNTN4@p.R1023T 1 0.318181818 ENSG00000144619 chr3:3056207-3056207;G/C missense_variant False CNTN4@p.R169H 1 0.325581395 ENSG00000144619 chr3:2866803-2866803;G/A missense_variant False CNTN4@p.R301T 1 0.229508197 ENSG00000144619 chr3:2887186-2887186;G/C missense_variant False CNTN4@p.R544K 1 0.354166667 ENSG00000144619 chr3:3026246-3026246;G/A missense_variant False CNTN5@p.E461K 1 0.5 ENSG00000149972 chr11:100071786-100071786;G/A missense_variant False CNTN5@p.E662K 1 0.185185185 ENSG00000149972 chr11:100224791-100224791;G/A missense_variant False CNTN5@p.E995K 1 0.295081967 ENSG00000149972 chr11:100341158-100341158;G/A missense_variant False CNTN5@p.P480H 1 0.578947368 ENSG00000149972 chr11:100074153-100074153;C/A missense_variant False CNTN5@p.P693Q 1 0.41025641 ENSG00000149972 chr11:100255832-100255832;C/A missense_variant False CNTN5@p.T285M 1 0.384615385 ENSG00000149972 chr11:99956986-99956986;C/T missense_variant False CNTN5@p.V742M 1 0.125 ENSG00000149972 chr11:100271151-100271151;G/A missense_variant False CNTN5@p.W230C 1 0.285714286 ENSG00000149972 chr11:99956822-99956822;G/T missense_variant False CNTN6@p.A280D 1 0.083333333 ENSG00000134115 chr3:1321727-1321727;C/A missense_variant False CNTN6@p.A341G 1 0.18627451 ENSG00000134115 chr3:1325890-1325890;C/G missense_variant False CNTN6@p.E1006Q 1 0.168141593 ENSG00000134115 chr3:1403347-1403347;G/C missense_variant False CNTNAP3@p.D1089N 1 0.15 ENSG00000283378 chr9:39086805-39086805;C/T missense_variant False CNTNAP3@p.D1100H 1 0.157894737 ENSG00000283378 chr9:39086772-39086772;C/G missense_variant False COBL@p.S1218C 1 0.185185185 ENSG00000106078 chr7:51025224-51025224;G/C missense_variant False CNTROB@p.E512Q 1 0.655172414 ENSG00000170037 chr17:7944211-7944211;G/C missense_variant False COA1@p.E146K 1 0.180851064 ENSG00000106603 chr7:43639587-43639587;C/T missense_variant False CNTROB@p.S22L 1 0.094117647 ENSG00000170037 chr17:7933144-7933144;C/T missense_variant False CNTROB@p.R53Q 1 0.548387097 ENSG00000170037 chr17:7933237-7933237;G/A missense_variant False CNTROB@p.Q261E 1 0.153846154 ENSG00000170037 chr17:7936770-7936770;C/G missense_variant False CNTROB@p.G856D 1 0.623376623 ENSG00000170037 chr17:7949138-7949138;G/A missense_variant False CNTROB@p.E596D 1 0.103448276 ENSG00000170037 chr17:7945781-7945781;G/C missense_variant False CNTROB@p.E311D 1 0.119047619 ENSG00000170037 chr17:7939518-7939518;G/C missense_variant False CNTRL@p.L103V 1 0.4 ENSG00000119397 chr9:121090364-121090364;C/G missense_variant False CNTROB@p.E255K 1 0.569230769 ENSG00000170037 chr17:7936752-7936752;G/A missense_variant False CNTROB@p.A398S 1 0.275862069 ENSG00000170037 chr17:7940123-7940123;G/T missense_variant False CNTRL@p.W187R 1 0.223529412 ENSG00000119397 chr9:121096501-121096501;T/C missense_variant False CNTRL@p.R395T 1 0.311827957 ENSG00000119397 chr9:121113563-121113563;G/C missense_variant False CNTRL@p.R266T 1 0.25 ENSG00000119397 chr9:121098561-121098561;G/C missense_variant False CNTRL@p.R2244Q 1 0.084507042 ENSG00000119397 chr9:121173721-121173721;G/A missense_variant False COA1@p.E59K 1 0.304347826 ENSG00000106603 chr7:43645340-43645340;C/T missense_variant False COA1@p.P131S 1 0.298076923 ENSG00000106603 chr7:43639632-43639632;G/A missense_variant False COA3@p.S12F 1 0.209302326 ENSG00000183978 chr17:42798647-42798647;G/A missense_variant False COA8@p.E110Q 1 0.637362637 ENSG00000256053 chr14:103574113-103574113;G/C missense_variant False COASY@p.D228H 1 0.307692308 ENSG00000068120 chr17:42563304-42563304;G/C missense_variant False COASY@p.E502G 1 0.4 ENSG00000068120 chr17:42565678-42565678;A/G missense_variant False COASY@p.G370R 1 0.277777778 ENSG00000068120 chr17:42564769-42564769;G/C missense_variant False COASY@p.H323R 1 0.558139535 ENSG00000068120 chr17:42564498-42564498;A/G missense_variant False COASY@p.Q314H 1 0.338983051 ENSG00000068120 chr17:42564472-42564472;G/C missense_variant False COASY@p.S149L 1 0.429577465 ENSG00000068120 chr17:42563068-42563068;C/T missense_variant False COBL@p.D1020E 1 0.323529412 ENSG00000106078 chr7:51028036-51028036;G/C missense_variant False COBL@p.D497N 1 0.303317536 ENSG00000106078 chr7:51030827-51030827;C/T missense_variant False COBL@p.E1147Q 1 0.098484848 ENSG00000106078 chr7:51026611-51026611;C/G missense_variant False COBL@p.F1226L 1 0.119266055 ENSG00000106078 chr7:51025199-51025199;G/C missense_variant False COBL@p.F770L 1 0.218390805 ENSG00000106078 chr7:51028786-51028786;G/C missense_variant False COBL@p.L94H 1 0.196721311 ENSG00000106078 chr7:51193554-51193554;A/T missense_variant False COBL@p.R826W 1 0.162790698 ENSG00000106078 chr7:51028620-51028620;G/A missense_variant False CNTRL@p.Q603H 1 0.426229508 ENSG00000119397 chr9:121125720-121125720;G/C missense_variant False CNTRL@p.E745Q 1 0.208955224 ENSG00000119397 chr9:121138575-121138575;G/C missense_variant False CNTNAP3@p.I751V 1 0.6 ENSG00000283378 chr9:39109274-39109274;T/C missense_variant False CNTNAP4@p.P159H 1 0.537313433 ENSG00000152910 chr16:76427537-76427537;C/A missense_variant False CNTNAP4@p.W712L 1 0.229508197 ENSG00000152910 chr16:76494964-76494964;G/T missense_variant False CNTNAP4@p.V456L 1 0.535714286 ENSG00000152910 chr16:76461988-76461988;G/C missense_variant False CNTNAP4@p.V183Wfs*19 1 0.215909091 ENSG00000152910 chr16:76448018-76448018;A/- frameshift_variant False CNTNAP4@p.S1067Y 1 0.325 ENSG00000152910 chr16:76538320-76538320;C/A missense_variant False CNTNAP4@p.S1025I 1 0.210526316 ENSG00000152910 chr16:76538194-76538194;G/T missense_variant False CNTNAP4@p.R845C 1 0.272727273 ENSG00000152910 chr16:76521307-76521307;C/T missense_variant False CNTNAP4@p.L1232I 1 0.238095238 ENSG00000152910 chr16:76553868-76553868;C/A missense_variant False CNTRL@p.E1517Q 1 0.3 ENSG00000119397 chr9:121157792-121157792;G/C missense_variant False CNTNAP4@p.I1251F 1 0.380952381 ENSG00000152910 chr16:76558507-76558507;A/T missense_variant False CNTNAP4@p.H294Y 1 0.195121951 ENSG00000152910 chr16:76448904-76448904;C/T missense_variant False CNTNAP4@p.E49K 1 0.181818182 ENSG00000152910 chr16:76316472-76316472;G/A missense_variant False CNTNAP4@p.D1189N 1 0.233333333 ENSG00000152910 chr16:76553405-76553405;G/A missense_variant False CNTNAP4@p.A904T 1 0.372093023 ENSG00000152910 chr16:76522212-76522212;G/A missense_variant False CNTNAP3@p.Y735H 1 0.298076923 ENSG00000283378 chr9:39118137-39118137;A/G missense_variant False CNTNAP4@p.Y965F 1 0.215686275 ENSG00000152910 chr16:76535683-76535683;A/T missense_variant False CNTNAP5@p.E662K 1 0.285714286 ENSG00000155052 chr2:124647868-124647868;G/A missense_variant False CNTNAP5@p.H977Q 1 0.534246575 ENSG00000155052 chr2:124790083-124790083;C/G missense_variant False CNTNAP5@p.I386M 1 0.443181818 ENSG00000155052 chr2:124504390-124504390;T/G missense_variant False CNTNAP5@p.K164N 1 0.523809524 ENSG00000155052 chr2:124417553-124417553;G/C missense_variant False CNTNAP5@p.P613S 1 0.073170732 ENSG00000155052 chr2:124609884-124609884;C/T missense_variant False CNTNAP5@p.R1234Q 1 0.714285714 ENSG00000155052 chr2:124911515-124911515;G/A missense_variant False CNTNAP5@p.S16C 1 0.130434783 ENSG00000155052 chr2:124025697-124025697;C/G missense_variant False CNTNAP5@p.S410Y 1 0.385542169 ENSG00000155052 chr2:124504461-124504461;C/A missense_variant False CNTNAP5@p.S477I 1 0.125 ENSG00000155052 chr2:124524408-124524408;G/T missense_variant False CNTNAP5@p.T200S 1 0.216981132 ENSG00000155052 chr2:124434552-124434552;A/T missense_variant False CNTNAP5@p.V793I 1 0.105263158 ENSG00000155052 chr2:124763994-124763994;G/A missense_variant False CNTNAP5@p.V948F 1 0.123076923 ENSG00000155052 chr2:124789994-124789994;G/T missense_variant False CNTRL@p.A1874T 1 0.209302326 ENSG00000119397 chr9:121166145-121166145;G/A missense_variant False CNTRL@p.D1495N 1 0.22972973 ENSG00000119397 chr9:121157587-121157587;G/A missense_variant False CNTRL@p.D901H 1 0.714285714 ENSG00000119397 chr9:121142100-121142100;G/C missense_variant False CNTRL@p.E1425K 1 0.15 ENSG00000119397 chr9:121154821-121154821;G/A missense_variant False CFAP61@p.G894A 1 0.316326531 ENSG00000089101 chr20:20277343-20277343;G/C missense_variant False CFAP61@p.E314K 1 0.384615385 ENSG00000089101 chr20:20142937-20142937;G/A missense_variant False CPEB1@p.P361T 1 0.333333333 ENSG00000214575 chr15:82553950-82553950;G/T missense_variant False CD101@p.S688Y 1 0.135135135 ENSG00000134256 chr1:117021618-117021618;C/A missense_variant False CD109@p.L954F 1 0.208333333 ENSG00000156535 chr6:73792784-73792784;C/T missense_variant False CD109@p.L576V 1 0.151898734 ENSG00000156535 chr6:73771480-73771480;C/G missense_variant False CD109@p.I864M 1 0.135135135 ENSG00000156535 chr6:73788503-73788503;C/G missense_variant False CD109@p.I1052L 1 0.242424242 ENSG00000156535 chr6:73807037-73807037;A/C missense_variant False CD109@p.F974L 1 0.16 ENSG00000156535 chr6:73803263-73803263;C/G missense_variant False CD109@p.E100K 1 0.173184358 ENSG00000156535 chr6:73730365-73730365;G/A missense_variant False CD101@p.S416F 1 0.221153846 ENSG00000134256 chr1:117017108-117017108;C/T missense_variant False CD109@p.Q217E 1 0.168421053 ENSG00000156535 chr6:73756658-73756658;C/G missense_variant False CD101@p.S181C 1 0.292682927 ENSG00000134256 chr1:117011667-117011667;C/G missense_variant False CD101@p.R344G 1 0.430555556 ENSG00000134256 chr1:117013594-117013594;A/G missense_variant False CD101@p.L14V 1 0.373333333 ENSG00000134256 chr1:117001857-117001857;C/G missense_variant False CD101@p.I503M 1 0.253968254 ENSG00000134256 chr1:117017370-117017370;C/G missense_variant False CD101@p.G476R 1 0.096385542 ENSG00000134256 chr1:117017287-117017287;G/A missense_variant False CD101@p.G348E 1 0.340909091 ENSG00000134256 chr1:117013607-117013607;G/A missense_variant False CD109@p.M794I 1 0.375 ENSG00000156535 chr6:73787278-73787278;G/A missense_variant False CD109@p.R37S 1 0.517647059 ENSG00000156535 chr6:73697436-73697436;G/T missense_variant False CD22@p.V624_Y627del 1 0.305555556 ENSG00000012124 chr19:35341799-35341810;CGTCTCCCACTA/- inframe_deletion False CD163@p.E467K 1 0.105263158 ENSG00000177575 chr12:7495102-7495102;C/T missense_variant False CD163@p.S793Y 1 0.05988024 ENSG00000177575 chr12:7486579-7486579;G/T missense_variant False CD163@p.R825K 1 0.397058824 ENSG00000177575 chr12:7485401-7485401;C/T missense_variant False CD163@p.G417E 1 0.11965812 ENSG00000177575 chr12:7495251-7495251;C/T missense_variant False CD163@p.G1019R 1 0.115942029 ENSG00000177575 chr12:7483400-7483400;C/T missense_variant False CD163@p.E995K 1 0.186046512 ENSG00000177575 chr12:7483472-7483472;C/T missense_variant False CD163@p.E675K 1 0.103448276 ENSG00000177575 chr12:7487386-7487386;C/T missense_variant False CD163@p.A765T 1 0.313207547 ENSG00000177575 chr12:7486664-7486664;C/T missense_variant False CD109@p.S1428L 1 0.196319018 ENSG00000156535 chr6:73823578-73823578;C/T missense_variant False CD163@p.A629S 1 0.178571429 ENSG00000177575 chr12:7487524-7487524;C/A missense_variant False CD160@p.T45A 1 0.475 ENSG00000117281 chr1:145730803-145730803;A/G missense_variant False CD14@p.P22R 1 0.297297297 ENSG00000170458 chr5:140632919-140632919;G/C missense_variant False CD14@p.E124Q 1 0.432098765 ENSG00000170458 chr5:140632614-140632614;C/G missense_variant False CD109@p.T31I 1 0.114035088 ENSG00000156535 chr6:73697417-73697417;C/T missense_variant False CD109@p.S838L 1 0.191011236 ENSG00000156535 chr6:73787409-73787409;C/T missense_variant False CD101@p.E741K 1 0.432989691 ENSG00000134256 chr1:117021776-117021776;G/A missense_variant False CD101@p.E634Q 1 0.207317073 ENSG00000134256 chr1:117018443-117018443;G/C missense_variant False CD101@p.E301K 1 0.13559322 ENSG00000134256 chr1:117013465-117013465;G/A missense_variant False CCT6B@p.S304F 1 0.325 ENSG00000132141 chr17:34940596-34940596;G/A missense_variant False CCT7@p.E34K 1 0.5 ENSG00000135624 chr2:73239736-73239736;G/A missense_variant False CCT7@p.E316Q 1 0.074074074 ENSG00000135624 chr2:73249153-73249153;G/C missense_variant False CCT7@p.E316K 1 0.235294118 ENSG00000135624 chr2:73249153-73249153;G/A missense_variant False CCT7@p.E103Q 1 0.058823529 ENSG00000135624 chr2:73243043-73243043;G/C missense_variant False CCT7@p.D456H 1 0.074380165 ENSG00000135624 chr2:73251388-73251388;G/C missense_variant False CCT6B@p.S94L 1 0.0625 ENSG00000132141 chr17:34958615-34958615;G/A missense_variant False CCT6B@p.S236L 1 0.210526316 ENSG00000132141 chr17:34942814-34942814;G/A missense_variant False CD101@p.D330N 1 0.104761905 ENSG00000134256 chr1:117013552-117013552;G/A missense_variant False CCT6B@p.Q294E 1 0.173913043 ENSG00000132141 chr17:34942489-34942489;G/C missense_variant False CCT6B@p.M143I 1 0.092592593 ENSG00000132141 chr17:34954507-34954507;C/T missense_variant False CCT6B@p.E364K 1 0.188235294 ENSG00000132141 chr17:34939306-34939306;C/T missense_variant False CCT6B@p.E257D 1 0.416666667 ENSG00000132141 chr17:34942598-34942598;C/A missense_variant False CCT6B@p.A441D 1 0.138095238 ENSG00000132141 chr17:34932392-34932392;G/T missense_variant False CCT6A@p.S236L 1 0.212765957 ENSG00000146731 chr7:56058085-56058085;C/T missense_variant False CCT7@p.G91S 1 0.651162791 ENSG00000135624 chr2:73243007-73243007;G/A missense_variant False CCT8@p.D545N 1 0.653333333 ENSG00000156261 chr21:29056489-29056489;C/T missense_variant False CCT8@p.E17K 1 0.053763441 ENSG00000156261 chr21:29073542-29073542;C/T missense_variant False CCT8@p.E38Rfs*16 1 0.19047619 ENSG00000156261 chr21:29070286-29070287;-/CT frameshift_variant False CCT8@p.I212M 1 0.126315789 ENSG00000156261 chr21:29065094-29065094;G/C missense_variant False CCT8L2@p.A268G 1 0.071428571 ENSG00000198445 chr22:16591748-16591748;G/C missense_variant False CCT8L2@p.E134K 1 0.428571429 ENSG00000198445 chr22:16592151-16592151;C/T missense_variant False CCT8L2@p.E302K 1 0.290540541 ENSG00000198445 chr22:16591647-16591647;C/T missense_variant False CCT8L2@p.E509K 1 0.413580247 ENSG00000198445 chr22:16591026-16591026;C/T missense_variant False CCT8L2@p.I552Nfs*6 1 0.186046512 ENSG00000198445 chr22:16590896-16590897;-/T frameshift_variant False CCT8L2@p.M417I 1 0.395833333 ENSG00000198445 chr22:16591300-16591300;C/T missense_variant False CCT8L2@p.P410A 1 0.267857143 ENSG00000198445 chr22:16591323-16591323;G/C missense_variant False CCZ1@p.L153V 1 0.358208955 ENSG00000146574 chr7:5902679-5902679;C/G missense_variant False CCZ1B@p.C358F 1 0.060869565 ENSG00000146574 chr7:6804971-6804971;C/A missense_variant False CCZ1B@p.E425K 1 0.192307692 ENSG00000146574 chr7:6801068-6801068;C/T missense_variant False CCZ1B@p.R242T 1 0.069767442 ENSG00000146574 chr7:6814819-6814819;C/G missense_variant False CD101@p.A843T 1 0.15625 ENSG00000134256 chr1:117025607-117025607;G/A missense_variant False CD163L1@p.E1150K 1 0.072115385 ENSG00000177675 chr12:7373602-7373602;C/T missense_variant False CD163L1@p.E1236Q 1 0.617647059 ENSG00000177675 chr12:7373344-7373344;C/G missense_variant False CD163L1@p.E1410K 1 0.3 ENSG00000177675 chr12:7367287-7367287;C/T missense_variant False CD1E@p.F101V 1 0.12195122 ENSG00000158488 chr1:158354619-158354619;T/G missense_variant False CD1E@p.V259I 1 0.446808511 ENSG00000158488 chr1:158355976-158355976;G/A missense_variant False CD1E@p.S49R 1 0.407407407 ENSG00000158488 chr1:158354465-158354465;C/A missense_variant False CD1E@p.Q41K 1 0.068965517 ENSG00000158488 chr1:158354439-158354439;C/A missense_variant False CD1E@p.L310R 1 0.222222222 ENSG00000158488 chr1:158356522-158356522;T/G missense_variant False CD1E@p.K378N 1 0.178571429 ENSG00000158488 chr1:158356863-158356863;G/C missense_variant False CD1E@p.F8L 1 0.19047619 ENSG00000158488 chr1:158354012-158354012;C/G missense_variant False CD1D@p.S298T 1 0.415841584 ENSG00000158473 chr1:158183942-158183942;G/C missense_variant False CD1D@p.E259K 1 0.5 ENSG00000158473 chr1:158183045-158183045;G/A missense_variant False CD1D@p.S128L 1 0.157894737 ENSG00000158473 chr1:158182086-158182086;C/T missense_variant False CD1D@p.R211C 1 0.22826087 ENSG00000158473 chr1:158182901-158182901;C/T missense_variant False CD1D@p.R107C 1 0.223684211 ENSG00000158473 chr1:158181712-158181712;C/T missense_variant False CD1D@p.K200N 1 0.155844156 ENSG00000158473 chr1:158182303-158182303;G/C missense_variant False CD1D@p.I87V 1 0.443298969 ENSG00000158473 chr1:158181652-158181652;A/G missense_variant False CD1D@p.G272V 1 0.563829787 ENSG00000158473 chr1:158183085-158183085;G/T missense_variant False CD200@p.N26S 1 0.324324324 ENSG00000091972 chr3:112336007-112336007;A/G missense_variant False CD200@p.S157L 1 0.29 ENSG00000091972 chr3:112345262-112345262;C/T missense_variant False CD200@p.S219P 1 0.117647059 ENSG00000091972 chr3:112347716-112347716;T/C missense_variant False CD200@p.T9K 1 0.180722892 ENSG00000091972 chr3:112335956-112335956;C/A missense_variant False CD200R1@p.W5C 1 0.063291139 ENSG00000163606 chr3:112974843-112974843;C/A missense_variant False CD200R1L@p.D131N 1 0.173553719 ENSG00000206531 chr3:112827406-112827406;C/T missense_variant False CD207@p.E4Q 1 0.352941176 ENSG00000116031 chr2:70835767-70835767;C/G missense_variant False CD207@p.V194M 1 0.608695652 ENSG00000116031 chr2:70833037-70833037;C/T missense_variant False CD209@p.A225V 1 0.283464567 ENSG00000090659 chr19:7745592-7745592;G/A missense_variant False CD209@p.P184S 1 0.308108108 ENSG00000090659 chr19:7745716-7745716;G/A missense_variant False CD209@p.S72F 1 0.295154185 ENSG00000090659 chr19:7746051-7746051;G/A missense_variant False CD226@p.F63L 1 0.574074074 ENSG00000150637 chr18:69946927-69946927;G/T missense_variant False CD226@p.K146N 1 0.368421053 ENSG00000150637 chr18:69895990-69895990;C/G missense_variant False CD226@p.Y223C 1 0.145945946 ENSG00000150637 chr18:69895760-69895760;T/C missense_variant False CD22@p.D841N 1 0.375 ENSG00000012124 chr19:35346674-35346674;G/A missense_variant False CD22@p.E266K 1 0.34939759 ENSG00000012124 chr19:35337832-35337832;G/A missense_variant False CD22@p.E588G 1 0.171717172 ENSG00000012124 chr19:35341598-35341598;A/G missense_variant False CD1D@p.F131L 1 0.317647059 ENSG00000158473 chr1:158182096-158182096;C/G missense_variant False CD1D@p.E121A 1 0.140077821 ENSG00000158473 chr1:158182065-158182065;A/C missense_variant False CD163L1@p.E276Q 1 0.14084507 ENSG00000177675 chr12:7406793-7406793;C/G missense_variant False CD164L2@p.P119L 1 0.130434783 ENSG00000174950 chr1:27381797-27381797;G/A missense_variant False CD180@p.E367D 1 0.101265823 ENSG00000134061 chr5:67183742-67183742;C/G missense_variant False CD180@p.D4E 1 0.474137931 ENSG00000134061 chr5:67196630-67196630;G/C missense_variant False CD180@p.D458Vfs*3 1 0.285714286 ENSG00000134061 chr5:67183455-67183470;TGCTGATTGCTGGTAT/- frameshift_variant False CD177@p.S403F 1 0.193548387 ENSG00000204936 chr19:43362214-43362214;C/T missense_variant False CD177@p.G388V 1 0.098039216 ENSG00000204936 chr19:43362169-43362169;G/T missense_variant False CD177@p.D229N 1 0.142857143 ENSG00000204936 chr19:43360330-43360330;G/A missense_variant False CD164L2@p.G139R 1 0.052238806 ENSG00000174950 chr1:27380154-27380154;C/T missense_variant False CD1D@p.A306V 1 0.127090301 ENSG00000158473 chr1:158183966-158183966;C/T missense_variant False CD164@p.S133C 1 0.161290323 ENSG00000135535 chr6:109370440-109370440;G/C missense_variant False CD164@p.R64Q 1 0.503597122 ENSG00000135535 chr6:109379647-109379647;C/T missense_variant False CD163L1@p.S200Y 1 0.067961165 ENSG00000177675 chr12:7432583-7432583;G/T missense_variant False CD163L1@p.R568I 1 0.311688312 ENSG00000177675 chr12:7398290-7398290;C/A missense_variant False CD163L1@p.H1053Y 1 0.243243243 ENSG00000177675 chr12:7374694-7374694;G/A missense_variant False CD163L1@p.G1306A 1 0.162393162 ENSG00000177675 chr12:7369479-7369479;C/G missense_variant False CD180@p.H332D 1 0.046728972 ENSG00000134061 chr5:67183849-67183849;G/C missense_variant False CD180@p.Q181H 1 0.06122449 ENSG00000134061 chr5:67184300-67184300;C/G missense_variant False CD19@p.E526K 1 0.428571429 ENSG00000177455 chr16:28938762-28938762;G/A missense_variant False CD19@p.R5C 1 0.227272727 ENSG00000177455 chr16:28932013-28932013;C/T missense_variant False CD19@p.S498Y 1 0.279069767 ENSG00000177455 chr16:28938679-28938679;C/A missense_variant False CD19@p.V385I 1 0.192307692 ENSG00000177455 chr16:28937091-28937091;G/A missense_variant False CD1A@p.H28Y 1 0.11409396 ENSG00000158477 chr1:158255107-158255107;C/T missense_variant False CD1A@p.L191P 1 0.246073298 ENSG00000158477 chr1:158256250-158256250;T/C missense_variant False CD1A@p.L305V 1 0.228571429 ENSG00000158477 chr1:158257450-158257450;T/G missense_variant False CD1A@p.P212R 1 0.162162162 ENSG00000158477 chr1:158256816-158256816;C/G missense_variant False CD1A@p.R279Q 1 0.180555556 ENSG00000158477 chr1:158257017-158257017;G/A missense_variant False CD1A@p.R90H 1 0.1 ENSG00000158477 chr1:158255294-158255294;G/A missense_variant False CD1B@p.D271Y 1 0.055762082 ENSG00000158485 chr1:158329445-158329445;C/A missense_variant False CD1B@p.R158S 1 0.261261261 ENSG00000158485 chr1:158329985-158329985;C/G missense_variant False CD1B@p.R97Q 1 0.094736842 ENSG00000158485 chr1:158330834-158330834;C/T missense_variant False CD1C@p.F90I 1 0.15942029 ENSG00000158481 chr1:158291340-158291340;T/A missense_variant False CD1C@p.V320L 1 0.088408644 ENSG00000158481 chr1:158293280-158293280;G/T missense_variant False CCT6A@p.Q386E 1 0.244680851 ENSG00000146731 chr7:56060359-56060359;C/G missense_variant False CCT6A@p.L305V 1 0.228571429 ENSG00000146731 chr7:56058647-56058647;C/G missense_variant False CCT6A@p.H115Y 1 0.512820513 ENSG00000146731 chr7:56055630-56055630;C/T missense_variant False CCNG1@p.E111K 1 0.185714286 ENSG00000113328 chr5:163441144-163441144;G/A missense_variant False CCNH@p.L187F 1 0.102564103 ENSG00000134480 chr5:87404972-87404972;C/G missense_variant False CCNG2@p.R34L 1 0.285714286 ENSG00000138764 chr4:77158633-77158633;G/T missense_variant False CCNG2@p.R111T 1 0.233333333 ENSG00000138764 chr4:77160776-77160776;G/C missense_variant False CCNG2@p.L218M 1 0.405405405 ENSG00000138764 chr4:77161694-77161694;T/A missense_variant False CCNG2@p.D62N 1 0.220930233 ENSG00000138764 chr4:77159412-77159412;G/A missense_variant False CCNG1@p.M135I 1 0.447368421 ENSG00000113328 chr5:163441218-163441218;G/A missense_variant False CCNF@p.T381M 1 0.736842105 ENSG00000162063 chr16:2448902-2448902;C/T missense_variant False CCNE2@p.D280Y 1 0.067961165 ENSG00000175305 chr8:94882886-94882886;C/A missense_variant False CCNF@p.S613C 1 0.170731707 ENSG00000162063 chr16:2455517-2455517;C/G missense_variant False CCNF@p.H169N 1 0.307692308 ENSG00000162063 chr16:2437287-2437287;C/A missense_variant False CCNF@p.F197L 1 0.164705882 ENSG00000162063 chr16:2438120-2438120;C/G missense_variant False CCNF@p.E101K 1 0.242424242 ENSG00000162063 chr16:2435828-2435828;G/A missense_variant False CCNE2@p.L146V 1 0.35193133 ENSG00000175305 chr8:94890432-94890432;G/C missense_variant False CCNE2@p.E308A 1 0.133757962 ENSG00000175305 chr8:94882801-94882801;T/G missense_variant False CCNH@p.R197K 1 0.298245614 ENSG00000134480 chr5:87404943-87404943;C/T missense_variant False CCNH@p.Y164S 1 0.3625 ENSG00000134480 chr5:87408010-87408010;T/G missense_variant False CCNI@p.H152Y 1 0.111111111 ENSG00000118816 chr4:77055967-77055967;G/A missense_variant False CCNI@p.P63L 1 0.280487805 ENSG00000118816 chr4:77058562-77058562;G/A missense_variant False CCNI@p.R323H 1 0.244274809 ENSG00000118816 chr4:77048385-77048385;C/T missense_variant False CCNI@p.S248C 1 0.508196721 ENSG00000118816 chr4:77048610-77048610;G/C missense_variant False CCNJ@p.Q358K 1 0.343137255 ENSG00000107443 chr10:96058194-96058194;C/A missense_variant False CCNJL@p.L204F 1 0.06122449 ENSG00000135083 chr5:160259584-160259584;C/A missense_variant False CCNK@p.S86F 1 0.5 ENSG00000090061 chr14:99493573-99493573;C/T missense_variant False CCNL1@p.F125Sfs*22 1 0.196721311 ENSG00000163660 chr3:157159409-157159409;A/- frameshift_variant False CCNL1@p.N442I 1 0.137724551 ENSG00000163660 chr3:157148497-157148497;T/A missense_variant False CCNL1@p.S65W 1 0.4 ENSG00000163660 chr3:157159901-157159901;G/C missense_variant False CCNL2@p.E136K 1 0.172932331 ENSG00000221978 chr1:1398300-1398300;C/T missense_variant False CCNL2@p.G318E 1 0.146853147 ENSG00000221978 chr1:1390283-1390283;C/T missense_variant False CCNL2@p.H261Y 1 0.25 ENSG00000221978 chr1:1390542-1390542;G/A missense_variant False CCNL2@p.K185R 1 0.351851852 ENSG00000221978 chr1:1395434-1395434;T/C missense_variant False CCNO@p.R39K 1 0.434782609 ENSG00000152669 chr5:55233408-55233408;C/T missense_variant False CCNE2@p.D83N 1 0.577464789 ENSG00000175305 chr8:94892888-94892888;C/T missense_variant False CCNE2@p.D258H 1 0.454545455 ENSG00000175305 chr8:94885126-94885126;C/G missense_variant False CCNQ@p.N154K 1 0.257142857 ENSG00000262919 chrX:153592701-153592701;G/T missense_variant False CCNB1@p.V423L 1 0.495726496 ENSG00000134057 chr5:69177596-69177596;G/C missense_variant False CCNB3@p.F1134L 1 0.254237288 ENSG00000147082 chrX:50312611-50312611;C/A missense_variant False CCNB3@p.E738K 1 0.944444444 ENSG00000147082 chrX:50310381-50310381;G/A missense_variant False CCNB3@p.E558K 1 0.785714286 ENSG00000147082 chrX:50309841-50309841;G/A missense_variant False CCNB3@p.E275K 1 0.38 ENSG00000147082 chrX:50308992-50308992;G/A missense_variant False CCNB3@p.E1010K 1 0.313953488 ENSG00000147082 chrX:50311197-50311197;G/A missense_variant False CCNB2@p.G277R 1 0.468085106 ENSG00000157456 chr15:59116921-59116921;G/A missense_variant False CCNB1@p.R188T 1 0.11627907 ENSG00000134057 chr5:69174267-69174267;G/C missense_variant False CCNE1@p.S309L 1 0.318181818 ENSG00000105173 chr19:29822325-29822325;C/T missense_variant False CCNB1@p.L297V 1 0.414141414 ENSG00000134057 chr5:69175060-69175060;C/G missense_variant False CCNB1@p.D231H 1 0.181818182 ENSG00000134057 chr5:69174395-69174395;G/C missense_variant False CCNB1@p.A309V 1 0.410526316 ENSG00000134057 chr5:69175097-69175097;C/T missense_variant False CCNA2@p.L299F 1 0.150684932 ENSG00000145386 chr4:121819477-121819477;C/G missense_variant False CCNA2@p.E13K 1 0.307692308 ENSG00000145386 chr4:121823592-121823592;C/T missense_variant False CCNA2@p.E105K 1 0.095 ENSG00000145386 chr4:121822547-121822547;C/T missense_variant False CCNB3@p.K58R 1 0.826086957 ENSG00000147082 chrX:50288856-50288856;A/G missense_variant False CCNB3@p.M1377I 1 0.391304348 ENSG00000147082 chrX:50351646-50351646;G/T missense_variant False CCNB3@p.R1224C 1 0.941176471 ENSG00000147082 chrX:50346667-50346667;C/T missense_variant False CCNB3@p.R1266H 1 0.193548387 ENSG00000147082 chrX:50346794-50346794;G/A missense_variant False CCNC@p.A87T 1 0.259615385 ENSG00000112237 chr6:99561402-99561402;C/T missense_variant False CCNC@p.D212H 1 0.148148148 ENSG00000112237 chr6:99546439-99546439;C/G missense_variant False CCNC@p.S33L 1 0.128205128 ENSG00000112237 chr6:99562883-99562883;G/A missense_variant False CCND1@p.P199S 1 0.26744186 ENSG00000110092 chr11:69648014-69648014;C/T missense_variant False CCND1@p.P220L 1 0.156521739 ENSG00000110092 chr11:69648078-69648078;C/T missense_variant False CCND1@p.P287R 1 0.318181818 ENSG00000110092 chr11:69651254-69651254;C/G missense_variant False CCND3@p.E75D 1 0.5 ENSG00000112576 chr6:41940559-41940559;C/G missense_variant False CCND3@p.I126M 1 0.247863248 ENSG00000112576 chr6:41940406-41940406;G/C missense_variant False CCND3@p.P265T 1 0.3 ENSG00000112576 chr6:41936026-41936026;G/T missense_variant False CCND3@p.S263C 1 0.4 ENSG00000112576 chr6:41936031-41936031;G/C missense_variant False CCNDBP1@p.H301Y 1 0.177083333 ENSG00000166946 chr15:43192783-43192783;C/T missense_variant False CCNE1@p.D368H 1 0.169590643 ENSG00000105173 chr19:29822595-29822595;G/C missense_variant False CCNE1@p.L259V 1 0.291338583 ENSG00000105173 chr19:29822065-29822065;C/G missense_variant False CCNP@p.E66A 1 0.2 ENSG00000105219 chr19:40226445-40226445;T/G missense_variant False CCNT1@p.D586H 1 0.24137931 ENSG00000129315 chr12:48693458-48693458;C/G missense_variant False CCT6A@p.E124V 1 0.135802469 ENSG00000146731 chr7:56055658-56055658;A/T missense_variant False CCRL2@p.E117K 1 0.05952381 ENSG00000121797 chr3:46408428-46408428;G/A missense_variant False CCSER1@p.Q255E 1 0.435897436 ENSG00000184305 chr4:90309047-90309047;C/G missense_variant False CCSER1@p.I419L 1 0.132653061 ENSG00000184305 chr4:90309539-90309539;A/T missense_variant False CCSER1@p.D479Y 1 0.318181818 ENSG00000184305 chr4:90312973-90312973;G/T missense_variant False CCSAP@p.E41Q 1 0.333333333 ENSG00000154429 chr1:229342345-229342345;C/G missense_variant False CCRL2@p.R144T 1 0.9375 ENSG00000121797 chr3:46408510-46408510;G/C missense_variant False CCRL2@p.Q173E 1 0.144444444 ENSG00000121797 chr3:46408596-46408596;C/G missense_variant False CCRL2@p.A38P 1 0.390243902 ENSG00000121797 chr3:46408191-46408191;G/C missense_variant False CCR6@p.F154L 1 0.296296296 ENSG00000112486 chr6:167136692-167136692;C/G missense_variant False CCR9@p.V291I 1 0.5 ENSG00000173585 chr3:45901659-45901659;G/A missense_variant False CCR8@p.M127I 1 0.268456376 ENSG00000179934 chr3:39332712-39332712;G/A missense_variant False CCR8@p.H264R 1 0.081632653 ENSG00000179934 chr3:39333122-39333122;A/G missense_variant False CCR8@p.C319Kfs*10 1 0.094017094 ENSG00000179934 chr3:39333280-39333281;-/AAAGT frameshift_variant False CCR7@p.Y312H 1 0.1 ENSG00000126353 chr17:40554945-40554945;A/G missense_variant False CCR7@p.M239I 1 0.166666667 ENSG00000126353 chr17:40555162-40555162;C/T missense_variant False CCSER2@p.E515K 1 0.142857143 ENSG00000107771 chr10:84373744-84373744;G/A missense_variant False CCT2@p.A524S 1 0.113207547 ENSG00000166226 chr12:69599997-69599997;G/T missense_variant False CCT2@p.D58N 1 0.392857143 ENSG00000166226 chr12:69587532-69587532;G/A missense_variant False CCT2@p.G286E 1 0.195121951 ENSG00000166226 chr12:69593082-69593082;G/A missense_variant False CCT2@p.L283I 1 0.078947368 ENSG00000166226 chr12:69593072-69593072;C/A missense_variant False CCT2@p.M353I 1 0.437810945 ENSG00000166226 chr12:69597232-69597232;G/T missense_variant False CCT3@p.E192Q 1 0.182481752 ENSG00000163468 chr1:156320874-156320874;C/G missense_variant False CCT3@p.H118Q 1 0.30952381 ENSG00000163468 chr1:156325040-156325040;G/C missense_variant False CCT3@p.R260Q 1 0.23923445 ENSG00000163468 chr1:156317528-156317528;C/T missense_variant False CCT3@p.S24C 1 0.28440367 ENSG00000163468 chr1:156335849-156335849;G/C missense_variant False CCT3@p.S524L 1 0.165289256 ENSG00000163468 chr1:156309266-156309266;G/A missense_variant False CCT5@p.D245N 1 0.127388535 ENSG00000150753 chr5:10258395-10258395;G/A missense_variant False CCT5@p.D58V 1 0.222222222 ENSG00000150753 chr5:10254680-10254680;A/T missense_variant False CCT5@p.G108E 1 0.515625 ENSG00000150753 chr5:10254830-10254830;G/A missense_variant False CCT5@p.K150R 1 0.333333333 ENSG00000150753 chr5:10256072-10256072;A/G missense_variant False CCT5@p.Q167E 1 0.620689655 ENSG00000150753 chr5:10256122-10256122;C/G missense_variant False CCT5@p.R388T 1 0.272222222 ENSG00000150753 chr5:10261729-10261729;G/C missense_variant False CCR7@p.I68Mfs*85 1 0.092592593 ENSG00000126353 chr17:40555674-40555675;AA/- frameshift_variant False CCR5@p.K219N 1 0.434027778 ENSG00000160791 chr3:46373559-46373559;A/C missense_variant False CCNT1@p.H518Y 1 0.327759197 ENSG00000129315 chr12:48693662-48693662;G/A missense_variant False CCNY@p.T245Gfs*13 1 0.206349206 ENSG00000108100 chr10:35553171-35553173;CAC/T frameshift_variant False CCP110@p.N96D 1 0.131147541 ENSG00000103540 chr16:19535955-19535955;A/G missense_variant False CCP110@p.H39Y 1 0.282258065 ENSG00000103540 chr16:19527996-19527996;C/T missense_variant False CCP110@p.E689* 1 0.215686275 ENSG00000103540 chr16:19541898-19541925;GCAGGAGAAAATGTTAAAAGAGAAGAAG/- frameshift_variant False CCNYL1@p.E179Q 1 0.565217391 ENSG00000163249 chr2:207742238-207742238;G/C missense_variant False CCNYL1@p.D346N 1 0.305343511 ENSG00000163249 chr2:207753654-207753654;G/A missense_variant False CCNY@p.T245M 1 0.255319149 ENSG00000108100 chr10:35553173-35553173;C/T missense_variant False CCNY@p.R176W 1 0.293103448 ENSG00000108100 chr10:35530190-35530190;C/T missense_variant False CCR5@p.I56T 1 0.260869565 ENSG00000160791 chr3:46373069-46373069;T/C missense_variant False CCNT2@p.M634I 1 0.343434343 ENSG00000082258 chr2:134954357-134954357;G/A missense_variant False CCNT2@p.F716L 1 0.208333333 ENSG00000082258 chr2:134954603-134954603;C/G missense_variant False CCNT2@p.E492K 1 0.263157895 ENSG00000082258 chr2:134953929-134953929;G/A missense_variant False CCNT2@p.E409K 1 0.308641975 ENSG00000082258 chr2:134953680-134953680;G/A missense_variant False CCNT1@p.S444L 1 0.232142857 ENSG00000129315 chr12:48693883-48693883;G/A missense_variant False CCNT1@p.R393L 1 0.163366337 ENSG00000129315 chr12:48694036-48694036;C/A missense_variant False CCP110@p.Q730E 1 0.281481481 ENSG00000103540 chr16:19542025-19542025;C/G missense_variant False CCPG1@p.H366Tfs*5 1 0.166666667 ENSG00000260916 chr15:55360677-55360678;-/T frameshift_variant False CCPG1@p.I681M 1 0.229508197 ENSG00000260916 chr15:55359730-55359730;G/C missense_variant False CCPG1@p.R372K 1 0.26984127 ENSG00000260916 chr15:55360658-55360658;C/T missense_variant False CCR10@p.D320N 1 0.380952381 ENSG00000184451 chr17:42679684-42679684;C/T missense_variant False CCR10@p.R337H 1 0.413793103 ENSG00000184451 chr17:42679632-42679632;C/T missense_variant False CCR10@p.S332L 1 0.203125 ENSG00000184451 chr17:42679647-42679647;G/A missense_variant False CCR1@p.S191N 1 0.369230769 ENSG00000163823 chr3:46203742-46203742;C/T missense_variant False CCR2@p.G127A 1 0.129963899 ENSG00000121807 chr3:46357907-46357907;G/C missense_variant False CCR3@p.H323Y 1 0.337078652 ENSG00000183625 chr3:46266125-46266125;C/T missense_variant False CCR3@p.Y16C 1 0.5 ENSG00000183625 chr3:46265205-46265205;A/G missense_variant False CCR4@p.E181K 1 0.239669421 ENSG00000183813 chr3:32953963-32953963;G/A missense_variant False CCR4@p.G210R 1 0.40625 ENSG00000183813 chr3:32954050-32954050;G/A missense_variant False CCR4@p.L146F 1 0.333333333 ENSG00000183813 chr3:32953860-32953860;G/C missense_variant False CCR5@p.E172Q 1 0.316582915 ENSG00000160791 chr3:46373416-46373416;G/C missense_variant False CCR5@p.G301E 1 0.502463054 ENSG00000160791 chr3:46373804-46373804;G/A missense_variant False CCR5@p.I198V 1 0.458498024 ENSG00000160791 chr3:46373494-46373494;A/G missense_variant False CD22@p.E617K 1 0.226415094 ENSG00000012124 chr19:35341779-35341779;G/A missense_variant False CD244@p.D273H 1 0.637130802 ENSG00000122223 chr1:160838483-160838483;C/G missense_variant False CCNA1@p.S108F 1 0.077777778 ENSG00000133101 chr13:36437654-36437654;C/T missense_variant False CDC42BPA@p.E262K 1 0.50877193 ENSG00000143776 chr1:227147469-227147469;C/T missense_variant False CDC42BPA@p.Q1556H 1 0.238095238 ENSG00000143776 chr1:227016932-227016932;C/G missense_variant False CDC42BPA@p.Q1345E 1 0.242424242 ENSG00000143776 chr1:227028990-227028990;G/C missense_variant False CDC42BPA@p.M1566I 1 0.444444444 ENSG00000143776 chr1:227016173-227016173;C/A missense_variant False CDC42BPA@p.L1424V 1 0.184210526 ENSG00000143776 chr1:227028753-227028753;G/C missense_variant False CDC42BPA@p.G23W 1 0.324675325 ENSG00000143776 chr1:227317116-227317116;C/A missense_variant False CDC42BPA@p.F871L 1 0.049382716 ENSG00000143776 chr1:227073988-227073988;A/G missense_variant False CDC42BPA@p.E1525Q 1 0.353932584 ENSG00000143776 chr1:227017027-227017027;C/G missense_variant False CDC42BPB@p.E512A 1 0.26 ENSG00000198752 chr14:102974122-102974122;T/G missense_variant False CDC42BPA@p.D176Y 1 0.697368421 ENSG00000143776 chr1:227193859-227193859;C/A missense_variant False CDC42BPA@p.A878G 1 0.254098361 ENSG00000143776 chr1:227073966-227073966;G/C missense_variant False CDC42@p.Y51H 1 0.298969072 ENSG00000289694 chr1:22081767-22081767;T/C missense_variant False CDC42@p.S83L 1 0.169014085 ENSG00000289694 chr1:22086508-22086508;C/T missense_variant False CDC42@p.P73L 1 0.084615385 ENSG00000289694 chr1:22086478-22086478;C/T missense_variant False CDC42@p.P50Hfs*21 1 0.305555556 ENSG00000289694 chr1:22081764-22081764;C/- frameshift_variant False CDC42BPB@p.E1285K 1 0.263157895 ENSG00000198752 chr14:102944446-102944446;C/T missense_variant False CDC42BPB@p.E752Q 1 0.24 ENSG00000198752 chr14:102968345-102968345;C/G missense_variant False CD244@p.H65N 1 0.075949367 ENSG00000122223 chr1:160841770-160841770;G/T missense_variant False CDC42BPG@p.L1367F 1 0.583333333 ENSG00000171219 chr11:64827578-64827578;G/A missense_variant False CDC45@p.G78A 1 0.059602649 ENSG00000093009 chr22:19482718-19482718;G/C missense_variant False CDC45@p.E67K 1 0.181818182 ENSG00000093009 chr22:19481040-19481040;G/A missense_variant False CDC45@p.D99H 1 0.525 ENSG00000093009 chr22:19482780-19482780;G/C missense_variant False CDC45@p.A379V 1 0.272727273 ENSG00000093009 chr22:19508610-19508610;C/T missense_variant False CDC42SE1@p.H41D 1 0.132841328 ENSG00000197622 chr1:151055060-151055060;G/C missense_variant False CDC42BPG@p.R417Q 1 0.228070175 ENSG00000171219 chr11:64836975-64836975;C/T missense_variant False CDC42BPG@p.I1017M 1 0.235294118 ENSG00000171219 chr11:64832464-64832464;G/C missense_variant False CDC42BPB@p.I951V 1 0.772727273 ENSG00000198752 chr14:102959681-102959681;T/C missense_variant False CDC42BPG@p.G602Vfs*5 1 0.153846154 ENSG00000171219 chr11:64835565-64835575;CTGAGGCCCAC/A frameshift_variant False CDC42BPG@p.E406Q 1 0.179487179 ENSG00000171219 chr11:64837009-64837009;C/G missense_variant False CDC42BPB@p.W1114S 1 0.118811881 ENSG00000198752 chr14:102949873-102949873;C/G missense_variant False CDC42BPB@p.S1340C 1 0.490566038 ENSG00000198752 chr14:102944280-102944280;G/C missense_variant False CDC42BPB@p.S1066Y 1 0.41509434 ENSG00000198752 chr14:102950578-102950578;G/T missense_variant False CDC42BPB@p.Q144E 1 0.47826087 ENSG00000198752 chr14:103003945-103003945;G/C missense_variant False CDC40@p.S525L 1 0.14516129 ENSG00000168438 chr6:110229965-110229965;C/T missense_variant False CDC40@p.E429K 1 0.1625 ENSG00000168438 chr6:110219814-110219814;G/A missense_variant False CDC40@p.E218K 1 0.388888889 ENSG00000168438 chr6:110210728-110210728;G/A missense_variant False CDC20@p.M43K 1 0.56 ENSG00000117399 chr1:43359343-43359343;T/A missense_variant False CDC25A@p.E139D 1 0.315789474 ENSG00000164045 chr3:48182941-48182941;C/A missense_variant False CDC25A@p.D223N 1 0.118012422 ENSG00000164045 chr3:48177871-48177871;C/T missense_variant False CDC23@p.H197D 1 0.45 ENSG00000094880 chr5:138201172-138201172;G/C missense_variant False CDC20B@p.G422V 1 0.079096045 ENSG00000164287 chr5:55120501-55120501;C/A missense_variant False CDC20B@p.D39H 1 0.234375 ENSG00000164287 chr5:55172599-55172599;C/G missense_variant False CDC20@p.P225L 1 0.164179104 ENSG00000117399 chr1:43360310-43360310;C/T missense_variant False CDC20@p.E474Q 1 0.261538462 ENSG00000117399 chr1:43363049-43363049;G/C missense_variant False CDC37L1@p.E23Q 1 0.137254902 ENSG00000106993 chr9:4679834-4679834;G/C missense_variant False CDC16@p.M609I 1 0.366666667 ENSG00000130177 chr13:114272407-114272407;G/C missense_variant False CDC16@p.H264Y 1 0.407894737 ENSG00000130177 chr13:114244912-114244912;C/T missense_variant False CDC16@p.D617H 1 0.684210526 ENSG00000130177 chr13:114272429-114272429;G/C missense_variant False CDC16@p.D512N 1 0.282608696 ENSG00000130177 chr13:114265171-114265171;G/A missense_variant False CDC14B@p.Q456H 1 0.485714286 ENSG00000081377 chr9:96509765-96509765;C/G missense_variant False CDC14B@p.E206K 1 0.06779661 ENSG00000081377 chr9:96539089-96539089;C/T missense_variant False CDC25A@p.R189T 1 0.349514563 ENSG00000164045 chr3:48177972-48177972;C/G missense_variant False CDC25A@p.S298N 1 0.094339623 ENSG00000164045 chr3:48174321-48174321;C/T missense_variant False CDC25B@p.E105K 1 0.56097561 ENSG00000101224 chr20:3797734-3797734;G/A missense_variant False CDC25B@p.E262Q 1 0.12962963 ENSG00000101224 chr20:3801332-3801332;G/C missense_variant False CDC25B@p.E380Q 1 0.148148148 ENSG00000101224 chr20:3802320-3802320;G/C missense_variant False CDC25C@p.A91P 1 0.2125 ENSG00000158402 chr5:138329571-138329571;C/G missense_variant False CDC25C@p.S263F 1 0.5 ENSG00000158402 chr5:138290715-138290715;G/A missense_variant False CDC27@p.A654S 1 0.104477612 ENSG00000004897 chr17:47132328-47132328;C/A missense_variant False CDC27@p.D597H 1 0.102564103 ENSG00000004897 chr17:47137276-47137276;C/G missense_variant False CDC27@p.E34K 1 0.170212766 ENSG00000004897 chr17:47181565-47181565;C/T missense_variant False CDC27@p.P292S 1 0.194444444 ENSG00000004897 chr17:47154755-47154755;G/A missense_variant False CDC27@p.S761F 1 0.472972973 ENSG00000004897 chr17:47122554-47122554;G/A missense_variant False CDC34@p.E177K 1 0.75 ENSG00000099804 chr19:541370-541370;G/A missense_variant False CDC37@p.D177N 1 0.144278607 ENSG00000105401 chr19:10395302-10395302;C/T missense_variant False CDC37@p.E80Q 1 0.2 ENSG00000105401 chr19:10396068-10396068;C/G missense_variant False CDC37@p.E94Q 1 0.070175439 ENSG00000105401 chr19:10396026-10396026;C/G missense_variant False CDC37@p.V263L 1 0.148148148 ENSG00000105401 chr19:10393381-10393381;C/A missense_variant False CDC45@p.L336F 1 0.3375 ENSG00000093009 chr22:19507817-19507817;G/C missense_variant False CDC45@p.R536Q 1 0.688405797 ENSG00000093009 chr22:19516864-19516864;G/A missense_variant False CDC5L@p.L747F 1 0.152777778 ENSG00000096401 chr6:44445804-44445804;G/T missense_variant False CDCA7L@p.R137del 1 0.40625 ENSG00000164649 chr7:21908398-21908400;CTT/- inframe_deletion False CDCP1@p.P241S 1 0.352112676 ENSG00000163814 chr3:45110776-45110776;G/A missense_variant False CDCP1@p.F370C 1 0.478873239 ENSG00000163814 chr3:45095484-45095484;A/C missense_variant False CDCP1@p.E190Q 1 0.289473684 ENSG00000163814 chr3:45112170-45112170;C/G missense_variant False CDCA8@p.S154F 1 0.16 ENSG00000134690 chr1:37701791-37701791;C/T missense_variant False CDCA7L@p.S211L 1 0.5 ENSG00000164649 chr7:21908179-21908179;G/A missense_variant False CDCA7L@p.R71I 1 0.404040404 ENSG00000164649 chr7:21911708-21911708;C/A missense_variant False CDCA7L@p.L333F 1 0.04040404 ENSG00000164649 chr7:21905554-21905554;T/A missense_variant False CDCA5@p.S33L 1 0.166666667 ENSG00000146670 chr11:65083672-65083672;G/A missense_variant False CDCA7L@p.K417R 1 0.691489362 ENSG00000164649 chr7:21903062-21903062;T/C missense_variant False CDCA7L@p.E330K 1 0.432432432 ENSG00000164649 chr7:21905565-21905565;C/T missense_variant False CDCA7L@p.D240Y 1 0.138297872 ENSG00000164649 chr7:21906603-21906603;C/A missense_variant False CDCA7@p.Y262F 1 0.086206897 ENSG00000144354 chr2:173365579-173365579;A/T missense_variant False CDCA7@p.R302Q 1 0.43902439 ENSG00000144354 chr2:173366389-173366389;G/A missense_variant False CDCA7@p.E135Q 1 0.580645161 ENSG00000144354 chr2:173363836-173363836;G/C missense_variant False CDCP1@p.S503C 1 0.128 ENSG00000163814 chr3:45093396-45093396;G/C missense_variant False CDCP1@p.S573Y 1 0.586206897 ENSG00000163814 chr3:45091448-45091448;G/T missense_variant False CDCP2@p.F237L 1 0.133333333 ENSG00000157211 chr1:54141150-54141150;G/C missense_variant False CDCP2@p.G65E 1 0.703703704 ENSG00000157211 chr1:54144699-54144699;C/T missense_variant False CDH10@p.D396G 1 0.230769231 ENSG00000040731 chr5:24509635-24509635;T/C missense_variant False CDH10@p.E143K 1 0.362068966 ENSG00000040731 chr5:24537479-24537479;C/T missense_variant False CDH10@p.E660K 1 0.15862069 ENSG00000040731 chr5:24488052-24488052;C/T missense_variant False CDH10@p.E757Q 1 0.164705882 ENSG00000040731 chr5:24487761-24487761;C/G missense_variant False CDH10@p.G504W 1 0.346153846 ENSG00000040731 chr5:24498403-24498403;C/A missense_variant False CDH10@p.H435Y 1 0.428571429 ENSG00000040731 chr5:24505202-24505202;G/A missense_variant False CDH10@p.I148N 1 0.06875 ENSG00000040731 chr5:24537463-24537463;A/T missense_variant False CDH10@p.I431M 1 0.217391304 ENSG00000040731 chr5:24505212-24505212;G/C missense_variant False CDH10@p.K149Q 1 0.06918239 ENSG00000040731 chr5:24537461-24537461;T/G missense_variant False CDH10@p.L127Q 1 0.454545455 ENSG00000040731 chr5:24537526-24537526;A/T missense_variant False CDH10@p.L390V 1 0.246753247 ENSG00000040731 chr5:24509654-24509654;G/C missense_variant False CDH10@p.L93V 1 0.346938776 ENSG00000040731 chr5:24537629-24537629;A/C missense_variant False CDH10@p.P382A 1 0.123287671 ENSG00000040731 chr5:24509678-24509678;G/C missense_variant False CDCA7@p.D105N 1 0.5 ENSG00000144354 chr2:173363391-173363391;G/A missense_variant False CDCA5@p.E252Q 1 0.333333333 ENSG00000146670 chr11:65079112-65079112;C/G missense_variant False CDC5L@p.P220Afs*7 1 0.202898551 ENSG00000096401 chr6:44403918-44403919;-/A frameshift_variant False CDC6@p.N553D 1 0.277486911 ENSG00000094804 chr17:40301975-40301975;A/G missense_variant False CDC73@p.T311A 1 0.533333333 ENSG00000134371 chr1:193152403-193152403;A/G missense_variant True CDC73@p.R88S 1 0.585365854 ENSG00000134371 chr1:193130200-193130200;A/T missense_variant True CDC73@p.Q333E 1 0.609375 ENSG00000134371 chr1:193203819-193203819;C/G missense_variant True CDC73@p.M177V 1 0.68 ENSG00000134371 chr1:193141866-193141866;A/G missense_variant True CDC73@p.F298L 1 0.338983051 ENSG00000134371 chr1:193150369-193150369;C/G missense_variant True CDC6@p.S45C 1 0.155555556 ENSG00000094804 chr17:40289554-40289554;C/G missense_variant False CDC6@p.M264I 1 0.20952381 ENSG00000094804 chr17:40293587-40293587;G/A missense_variant False CDCA5@p.E150Q 1 0.386363636 ENSG00000146670 chr11:65079583-65079583;C/G missense_variant False CDC6@p.H87Q 1 0.333333333 ENSG00000094804 chr17:40291140-40291140;C/G missense_variant False CDC6@p.A273V 1 0.244897959 ENSG00000094804 chr17:40293613-40293613;C/T missense_variant False CDC5L@p.Y670C 1 0.475609756 ENSG00000096401 chr6:44429828-44429828;A/G missense_variant False CDC5L@p.T282I 1 0.197530864 ENSG00000096401 chr6:44406409-44406409;C/T missense_variant False CDC5L@p.R121Q 1 0.296296296 ENSG00000096401 chr6:44393496-44393496;G/A missense_variant False CDC5L@p.P397A 1 0.25 ENSG00000096401 chr6:44419545-44419545;C/G missense_variant False CDC7@p.D494N 1 0.052631579 ENSG00000097046 chr1:91524190-91524190;G/A missense_variant False CDC7@p.E25K 1 0.214876033 ENSG00000097046 chr1:91501789-91501789;G/A missense_variant False CDC7@p.R319K 1 0.137931034 ENSG00000097046 chr1:91514856-91514856;G/A missense_variant False CDC7@p.S148Y 1 0.452380952 ENSG00000097046 chr1:91511794-91511794;C/A missense_variant False CDCA2@p.D709N 1 0.333333333 ENSG00000184661 chr8:25506791-25506791;G/A missense_variant False CDCA2@p.E598Q 1 0.11827957 ENSG00000184661 chr8:25503493-25503493;G/C missense_variant False CDCA2@p.P471T 1 0.172222222 ENSG00000184661 chr8:25485804-25485804;C/A missense_variant False CDCA2@p.R1021T 1 0.058823529 ENSG00000184661 chr8:25507728-25507728;G/C missense_variant False CDCA2@p.R142I 1 0.243243243 ENSG00000184661 chr8:25466212-25466212;G/T missense_variant False CDCA2@p.R203K 1 0.488636364 ENSG00000184661 chr8:25468286-25468286;G/A missense_variant False CDCA2@p.S247L 1 0.564885496 ENSG00000184661 chr8:25469900-25469900;C/T missense_variant False CDCA3@p.M78I 1 0.426356589 ENSG00000111665 chr12:6850483-6850483;C/T missense_variant False CDCA3@p.N105D 1 0.141025641 ENSG00000111665 chr12:6849796-6849796;T/C missense_variant False CDCA3@p.T159K 1 0.598540146 ENSG00000111665 chr12:6849633-6849633;G/T missense_variant False CDCA4@p.E14Q 1 0.142857143 ENSG00000170779 chr14:105011890-105011890;C/G missense_variant False CDCA4@p.E170Q 1 0.102272727 ENSG00000170779 chr14:105011422-105011422;C/G missense_variant False CDCA4@p.V234M 1 0.45 ENSG00000170779 chr14:105011230-105011230;C/T missense_variant False CDC14B@p.C347Y 1 0.086956522 ENSG00000081377 chr9:96523632-96523632;C/T missense_variant False CDC14B@p.A169T 1 0.133333333 ENSG00000081377 chr9:96541885-96541885;C/T missense_variant False CDC14B@p.A169G 1 0.133333333 ENSG00000081377 chr9:96541884-96541884;G/C missense_variant False CD33@p.A328V 1 0.266666667 ENSG00000105383 chr19:51239576-51239576;C/T missense_variant False CD34@p.D221H 1 0.142857143 ENSG00000174059 chr1:207889558-207889558;C/G missense_variant False CD33@p.V257L 1 0.457627119 ENSG00000105383 chr19:51235180-51235180;G/T missense_variant False CD33@p.R109T 1 0.158536585 ENSG00000105383 chr19:51225506-51225506;G/C missense_variant False CD33@p.P350S 1 0.45 ENSG00000105383 chr19:51239641-51239641;C/T missense_variant False CD33@p.G123V 1 0.2 ENSG00000105383 chr19:51225548-51225548;G/T missense_variant False CD33@p.C274Vfs*8 1 0.303921569 ENSG00000105383 chr19:51235230-51235231;TT/A frameshift_variant False CD300LG@p.S26C 1 0.387755102 ENSG00000161649 chr17:43848590-43848590;A/T missense_variant False CD300C@p.T153M 1 0.098039216 ENSG00000167850 chr17:74542930-74542930;G/A missense_variant False CD300LF@p.L169R 1 0.2 ENSG00000186074 chr17:74698422-74698422;A/C missense_variant False CD300LF@p.L141V 1 0.097222222 ENSG00000186074 chr17:74703060-74703060;G/C missense_variant False CD300LD@p.E110K 1 0.306122449 ENSG00000204345 chr17:74588562-74588562;C/T missense_variant False CD300LD@p.D101Y 1 0.078212291 ENSG00000204345 chr17:74588589-74588589;C/A missense_variant False CD300LB@p.I187M 1 0.082191781 ENSG00000178789 chr17:74522783-74522783;G/C missense_variant False CD300E@p.V177M 1 0.439393939 ENSG00000186407 chr17:74612742-74612742;C/T missense_variant False CD34@p.P347L 1 0.508474576 ENSG00000174059 chr1:207887856-207887856;G/A missense_variant False CD36@p.S468L 1 0.466666667 ENSG00000135218 chr7:80674131-80674131;C/T missense_variant False CD36@p.Y340C 1 0.185185185 ENSG00000135218 chr7:80671934-80671934;A/G missense_variant False CD37@p.H239_L250del 1 0.107023411 ENSG00000104894 chr19:49339357-49339392;CTGCACAACAACCTTATTTCCATAGTGGGCATTTGC/- inframe_deletion False CD37@p.I29M 1 0.034682081 ENSG00000104894 chr19:49335731-49335731;C/G missense_variant False CD3E@p.A168V 1 0.685185185 ENSG00000198851 chr11:118313857-118313857;C/T missense_variant False CD3G@p.K150N 1 0.461538462 ENSG00000160654 chr11:118351638-118351638;G/T missense_variant False CD40@p.I271M 1 0.416666667 ENSG00000101017 chr20:46129019-46129019;C/G missense_variant False CD40LG@p.A235V 1 0.095588235 ENSG00000102245 chrX:136659333-136659333;C/T missense_variant False CD40LG@p.E86K 1 0.085106383 ENSG00000102245 chrX:136650365-136650365;G/A missense_variant False CD40LG@p.R181W 1 0.889952153 ENSG00000102245 chrX:136659170-136659170;C/T missense_variant False CD44@p.L501V 1 0.27173913 ENSG00000026508 chr11:35208191-35208191;C/G missense_variant False CD44@p.S199C 1 0.4 ENSG00000026508 chr11:35189994-35189994;C/G missense_variant False CD46@p.H84Y 1 0.366071429 ENSG00000117335 chr1:207757166-207757166;C/T missense_variant False CD46@p.K244T 1 0.16 ENSG00000117335 chr1:207767070-207767070;A/C missense_variant False CD46@p.L297F 1 0.173913043 ENSG00000117335 chr1:207767641-207767641;G/C missense_variant False CD46@p.R82Q 1 0.476190476 ENSG00000117335 chr1:207757161-207757161;G/A missense_variant False CD300E@p.L180V 1 0.144329897 ENSG00000186407 chr17:74612733-74612733;G/C missense_variant False CD300C@p.R44H 1 0.174603175 ENSG00000167850 chr17:74544878-74544878;C/T missense_variant False CD47@p.N206S 1 0.116161616 ENSG00000196776 chr3:108059526-108059526;T/C missense_variant False CD274@p.R82K 1 0.473684211 ENSG00000120217 chr9:5457271-5457271;G/A missense_variant False CD27@p.S197C 1 0.194029851 ENSG00000139193 chr12:6450946-6450946;C/G missense_variant False CD27@p.P124S 1 0.128571429 ENSG00000139193 chr12:6450274-6450274;C/T missense_variant False CD27@p.L15V 1 0.264705882 ENSG00000139193 chr12:6445138-6445138;C/G missense_variant False CD27@p.D165N 1 0.357142857 ENSG00000139193 chr12:6450585-6450585;G/A missense_variant False CD276@p.A90T 1 0.081081081 ENSG00000103855 chr15:73702443-73702443;G/A missense_variant False CD274@p.W57C 1 0.322033898 ENSG00000120217 chr9:5457197-5457197;G/T missense_variant False CD274@p.R260H 1 0.216666667 ENSG00000120217 chr9:5465595-5465595;G/A missense_variant False CD300C@p.E46Q 1 0.679245283 ENSG00000167850 chr17:74544873-74544873;C/G missense_variant False CD274@p.I137M 1 0.182795699 ENSG00000120217 chr9:5462850-5462850;C/G missense_variant False CD274@p.E188Vfs*18 1 0.319444444 ENSG00000120217 chr9:5463001-5463002;-/TTCA frameshift_variant False CD248@p.R478G 1 0.220183486 ENSG00000174807 chr11:66315596-66315596;G/C missense_variant False CD248@p.G287V 1 0.805555556 ENSG00000174807 chr11:66316168-66316168;C/A missense_variant False CD247@p.I18N 1 0.105527638 ENSG00000198821 chr1:167518413-167518413;A/T missense_variant False CD244@p.L268S 1 0.203389831 ENSG00000122223 chr1:160838497-160838497;A/G missense_variant False CD28@p.F177L 1 0.078651685 ENSG00000178562 chr2:203729769-203729769;C/G missense_variant False CD28@p.P119T 1 0.203125 ENSG00000178562 chr2:203726935-203726935;C/A missense_variant False CD28@p.S150F 1 0.959459459 ENSG00000178562 chr2:203729687-203729687;C/T missense_variant False CD2@p.L208M 1 0.235294118 ENSG00000116824 chr1:116764492-116764492;C/A missense_variant False CD2@p.P337S 1 0.243243243 ENSG00000116824 chr1:116768736-116768736;C/T missense_variant False CD2AP@p.E242Q 1 0.171428571 ENSG00000198087 chr6:47574246-47574246;G/C missense_variant False CD2AP@p.E265K 1 0.387755102 ENSG00000198087 chr6:47576587-47576587;G/A missense_variant False CD2AP@p.I70T 1 0.431818182 ENSG00000198087 chr6:47533645-47533645;T/C missense_variant False CD2AP@p.L489F 1 0.482758621 ENSG00000198087 chr6:47606212-47606212;C/T missense_variant False CD2AP@p.P410R 1 0.147465438 ENSG00000198087 chr6:47595981-47595981;C/G missense_variant False CD2AP@p.P566A 1 0.305555556 ENSG00000198087 chr6:47609186-47609186;C/G missense_variant False CD2AP@p.S582C 1 0.105263158 ENSG00000198087 chr6:47609235-47609235;C/G missense_variant False CD2AP@p.Y8C 1 0.535714286 ENSG00000198087 chr6:47503298-47503298;A/G missense_variant False CD2BP2@p.D104N 1 0.246376812 ENSG00000169217 chr16:30353966-30353966;C/T missense_variant False CD2BP2@p.D207H 1 0.342857143 ENSG00000169217 chr16:30353557-30353557;C/G missense_variant False CD2BP2@p.E142Q 1 0.576923077 ENSG00000169217 chr16:30353752-30353752;C/G missense_variant False CD300A@p.S274F 1 0.293478261 ENSG00000167851 chr17:74484047-74484047;C/T missense_variant False CD47@p.M289I 1 0.054054054 ENSG00000196776 chr3:108057487-108057487;C/T missense_variant False CD48@p.I123M 1 0.038800705 ENSG00000117091 chr1:160684903-160684903;G/C missense_variant False CDC14A@p.S574Y 1 0.115942029 ENSG00000079335 chr1:100499228-100499228;C/A missense_variant False CD93@p.G172R 1 0.102941176 ENSG00000125810 chr20:23085679-23085679;C/T missense_variant False CD96@p.E332K 1 0.428571429 ENSG00000153283 chr3:111600773-111600773;G/A missense_variant False CD93@p.S523C 1 0.106382979 ENSG00000125810 chr20:23084625-23084625;G/C missense_variant False CD93@p.S170F 1 0.230769231 ENSG00000125810 chr20:23085684-23085684;G/A missense_variant False CD93@p.S149C 1 0.307692308 ENSG00000125810 chr20:23085747-23085747;G/C missense_variant False CD93@p.P378S 1 0.1 ENSG00000125810 chr20:23085061-23085061;G/A missense_variant False CD93@p.P289T 1 0.059459459 ENSG00000125810 chr20:23085328-23085328;G/T missense_variant False CD93@p.E618Q 1 0.253846154 ENSG00000125810 chr20:23084341-23084341;C/G missense_variant False CD86@p.H245R 1 0.392070485 ENSG00000114013 chr3:122109295-122109295;A/G missense_variant False CD8A@p.F128L 1 0.283018868 ENSG00000153563 chr2:86790347-86790347;G/T missense_variant False CD8A@p.A63T 1 0.361111111 ENSG00000153563 chr2:86790544-86790544;C/T missense_variant False CD86@p.T211M 1 0.281395349 ENSG00000114013 chr3:122106429-122106429;C/T missense_variant False CD86@p.R226Q 1 0.438461538 ENSG00000114013 chr3:122106474-122106474;G/A missense_variant False CD86@p.M214I 1 0.137546468 ENSG00000114013 chr3:122106439-122106439;G/A missense_variant False CD86@p.I219T 1 0.322751323 ENSG00000114013 chr3:122106453-122106453;T/C missense_variant False CD96@p.E464K 1 0.26744186 ENSG00000153283 chr3:111637216-111637216;G/A missense_variant False CD96@p.E574Q 1 0.240740741 ENSG00000153283 chr3:111649768-111649768;G/C missense_variant False CD96@p.K373N 1 0.3 ENSG00000153283 chr3:111600898-111600898;G/C missense_variant False CD96@p.L122P 1 0.340425532 ENSG00000153283 chr3:111545349-111545349;T/C missense_variant False CD96@p.L351F 1 0.144578313 ENSG00000153283 chr3:111600832-111600832;G/C missense_variant False CD96@p.M56V 1 0.31557377 ENSG00000153283 chr3:111545150-111545150;A/G missense_variant False CD96@p.Q48H 1 0.101851852 ENSG00000153283 chr3:111545128-111545128;G/C missense_variant False CD96@p.T500A 1 0.225531915 ENSG00000153283 chr3:111638141-111638141;A/G missense_variant False CD99L2@p.T107N 1 0.188405797 ENSG00000102181 chrX:150795444-150795444;G/T missense_variant False CDA@p.M106I 1 0.326923077 ENSG00000158825 chr1:20613893-20613893;G/A missense_variant False CDAN1@p.L405V 1 0.191489362 ENSG00000140326 chr15:42734270-42734270;G/C missense_variant False CDAN1@p.R410Q 1 0.253164557 ENSG00000140326 chr15:42734254-42734254;C/T missense_variant False CDAN1@p.R682Q 1 0.285714286 ENSG00000140326 chr15:42730727-42730727;C/T missense_variant False CDC123@p.A87T 1 0.223880597 ENSG00000151465 chr10:12215761-12215761;G/A missense_variant False CDC14A@p.H207Y 1 0.413793103 ENSG00000079335 chr1:100462662-100462662;C/T missense_variant False CDC14A@p.S549I 1 0.211538462 ENSG00000079335 chr1:100499153-100499153;G/T missense_variant False CDC14A@p.S568F 1 0.219512195 ENSG00000079335 chr1:100499210-100499210;C/T missense_variant False CD86@p.I112T 1 0.31092437 ENSG00000114013 chr3:122103782-122103782;T/C missense_variant False CD83@p.E58D 1 0.25 ENSG00000112149 chr6:14131540-14131540;G/C missense_variant False CD4@p.A406T 1 0.36 ENSG00000010610 chr12:6818480-6818480;G/A missense_variant False CD5L@p.G266A 1 0.251282051 ENSG00000073754 chr1:157833434-157833434;C/G missense_variant False CD63@p.R108Lfs*5 1 0.108552632 ENSG00000135404 chr12:55726898-55726899;-/AG frameshift_variant False CD5L@p.V264I 1 0.455445545 ENSG00000073754 chr1:157833441-157833441;C/T missense_variant False CD5L@p.R32H 1 0.067164179 ENSG00000073754 chr1:157836116-157836116;C/T missense_variant False CD5L@p.L252H 1 0.058823529 ENSG00000073754 chr1:157833476-157833476;A/T missense_variant False CD5L@p.G72E 1 0.119266055 ENSG00000073754 chr1:157835996-157835996;C/T missense_variant False CD5L@p.G288R 1 0.238341969 ENSG00000073754 chr1:157833369-157833369;C/T missense_variant False CD5@p.V315E 1 0.263157895 ENSG00000110448 chr11:61121749-61121749;T/A missense_variant False CD82@p.F20L 1 0.162601626 ENSG00000085117 chr11:44594722-44594722;C/G missense_variant False CD5@p.P456H 1 0.373134328 ENSG00000110448 chr11:61125119-61125119;C/A missense_variant False CD58@p.P125A 1 0.11627907 ENSG00000116815 chr1:116536220-116536220;G/C missense_variant False CD55@p.S88L 1 0.31496063 ENSG00000196352 chr1:207322544-207322544;C/T missense_variant False CD55@p.E75K 1 0.142857143 ENSG00000196352 chr1:207322504-207322504;G/A missense_variant False CD4@p.S170F 1 0.289473684 ENSG00000010610 chr12:6814894-6814894;C/T missense_variant False CD4@p.K33I 1 0.142857143 ENSG00000010610 chr12:6800355-6800355;A/T missense_variant False CD63@p.S134L 1 0.455882353 ENSG00000135404 chr12:55726725-55726725;G/A missense_variant False CD63@p.S233G 1 0.9136 ENSG00000135404 chr12:55725581-55725581;T/C missense_variant False CD68@p.S8L 1 0.695652174 ENSG00000129226 chr17:7579700-7579700;C/T missense_variant False CD6@p.P433L 1 0.166666667 ENSG00000013725 chr11:61013925-61013925;C/T missense_variant False CD6@p.S385F 1 0.450892857 ENSG00000013725 chr11:61013426-61013426;C/T missense_variant False CD6@p.S568L 1 0.25 ENSG00000013725 chr11:61017879-61017879;C/T missense_variant False CD70@p.S117F 1 0.171428571 ENSG00000125726 chr19:6586252-6586252;G/A missense_variant False CD72@p.E197K 1 0.7625 ENSG00000137101 chr9:35616042-35616042;C/T missense_variant False CD79A@p.F154L 1 0.5 ENSG00000105369 chr19:41879617-41879617;C/G missense_variant False CD7@p.D68H 1 0.311827957 ENSG00000173762 chr17:82316862-82316862;C/G missense_variant False CD7@p.R55C 1 0.449438202 ENSG00000173762 chr17:82316901-82316901;G/A missense_variant False CD7@p.R82K 1 0.296 ENSG00000173762 chr17:82316819-82316819;C/T missense_variant False CD80@p.S148C 1 0.14516129 ENSG00000121594 chr3:119537394-119537394;G/C missense_variant False CD81@p.D195N 1 0.125628141 ENSG00000110651 chr11:2396649-2396649;G/A missense_variant False CD81@p.H37N 1 0.13592233 ENSG00000110651 chr11:2390454-2390454;C/A missense_variant False CD81@p.P53S 1 0.181818182 ENSG00000110651 chr11:2390502-2390502;C/T missense_variant False CD82@p.E163K 1 0.215384615 ENSG00000085117 chr11:44618210-44618210;G/A missense_variant False CCNA1@p.V187I 1 0.391752577 ENSG00000133101 chr13:36438081-36438081;G/A missense_variant False CCNA1@p.F337Y 1 0.310077519 ENSG00000133101 chr13:36440095-36440095;T/A missense_variant False CDH10@p.R771W 1 0.143203883 ENSG00000040731 chr5:24487719-24487719;G/A missense_variant False CCDC178@p.R398T 1 0.162162162 ENSG00000166960 chr18:33267281-33267281;C/G missense_variant False CCDC17@p.R509Afs*18 1 0.45 ENSG00000159588 chr1:45620971-45620977;GCCAGCG/- frameshift_variant False CCDC17@p.E538Q 1 0.222222222 ENSG00000159588 chr1:45620821-45620821;C/G missense_variant False CCDC178@p.T450M 1 0.428571429 ENSG00000166960 chr18:33266976-33266976;G/A missense_variant False CCDC178@p.S275C 1 0.178571429 ENSG00000166960 chr18:33333229-33333229;G/C missense_variant False CCDC178@p.R83P 1 0.272727273 ENSG00000166960 chr18:33370150-33370150;C/G missense_variant False CCDC178@p.R703T 1 0.204545455 ENSG00000166960 chr18:33212026-33212026;C/G missense_variant False CCDC178@p.M821I 1 0.513274336 ENSG00000166960 chr18:32974607-32974607;C/T missense_variant False CCDC180@p.D1367H 1 0.1 ENSG00000197816 chr9:97366610-97366610;G/C missense_variant False CCDC178@p.M43L 1 0.054054054 ENSG00000166960 chr18:33389621-33389621;T/G missense_variant False CCDC178@p.L742V 1 0.4 ENSG00000166960 chr18:33211910-33211910;G/C missense_variant False CCDC178@p.L564P 1 0.176470588 ENSG00000166960 chr18:33224902-33224902;A/G missense_variant False CCDC178@p.I558N 1 0.719512195 ENSG00000166960 chr18:33224920-33224920;A/T missense_variant False CCDC178@p.H61Y 1 0.264150943 ENSG00000166960 chr18:33389567-33389567;G/A missense_variant False CCDC178@p.H510Y 1 0.238095238 ENSG00000166960 chr18:33245310-33245310;G/A missense_variant False CCDC17@p.S495L 1 0.517857143 ENSG00000159588 chr1:45621018-45621018;G/A missense_variant False CCDC180@p.E293K 1 0.559322034 ENSG00000197816 chr9:97317146-97317146;G/A missense_variant False CCDC34@p.E139K 1 0.093220339 ENSG00000109881 chr11:27357486-27357486;C/T missense_variant False CCDC180@p.K675Nfs*30 1 0.4 ENSG00000197816 chr9:97330513-97330513;A/- frameshift_variant False CCDC183@p.D251N 1 0.338028169 ENSG00000213213 chr9:136804586-136804586;G/A missense_variant False CCDC181@p.F154L 1 0.294736842 ENSG00000117477 chr1:169421969-169421969;G/C missense_variant False CCDC181@p.E365K 1 0.103448276 ENSG00000117477 chr1:169419135-169419135;C/T missense_variant False CCDC181@p.E270Q 1 0.233333333 ENSG00000117477 chr1:169421623-169421623;C/G missense_variant False CCDC180@p.M51I 1 0.424242424 ENSG00000197816 chr9:97309497-97309497;G/A missense_variant False CCDC180@p.M286I 1 0.195121951 ENSG00000197816 chr9:97317127-97317127;G/A missense_variant False CCDC180@p.K35Q 1 0.169491525 ENSG00000197816 chr9:97309447-97309447;A/C missense_variant False CCDC180@p.E374Q 1 0.226244344 ENSG00000197816 chr9:97320166-97320166;G/C missense_variant False CCDC180@p.K343N 1 0.466666667 ENSG00000197816 chr9:97318532-97318532;G/C missense_variant False CCDC180@p.G782E 1 0.119047619 ENSG00000197816 chr9:97343410-97343410;G/A missense_variant False CCDC180@p.G782A 1 0.283018868 ENSG00000197816 chr9:97343410-97343410;G/C missense_variant False CCDC180@p.F664L 1 0.309090909 ENSG00000197816 chr9:97330485-97330485;C/G missense_variant False CCDC180@p.E818Q 1 0.431818182 ENSG00000197816 chr9:97343517-97343517;G/C missense_variant False CCDC180@p.E654K 1 0.285714286 ENSG00000197816 chr9:97330453-97330453;G/A missense_variant False CCDC178@p.F509L 1 0.238095238 ENSG00000166960 chr18:33245311-33245311;G/T missense_variant False CCDC178@p.D686V 1 0.290322581 ENSG00000166960 chr18:33215571-33215571;T/A missense_variant False CCDC174@p.G310A 1 0.324137931 ENSG00000154781 chr3:14668158-14668158;G/C missense_variant False CCDC158@p.L484F 1 0.111111111 ENSG00000163749 chr4:76367672-76367672;C/G missense_variant False CCDC15@p.Y661C 1 0.333333333 ENSG00000149548 chr11:124991534-124991534;A/G missense_variant False CCDC15@p.R209T 1 0.173913043 ENSG00000149548 chr11:124975205-124975205;G/C missense_variant False CCDC15@p.E797Q 1 0.6 ENSG00000149548 chr11:125005190-125005190;G/C missense_variant False CCDC15@p.E364Q 1 0.175824176 ENSG00000149548 chr11:124987316-124987316;G/C missense_variant False CCDC159@p.E172Q 1 0.111111111 ENSG00000183401 chr19:11352080-11352080;G/C missense_variant False CCDC158@p.S33F 1 0.25 ENSG00000163749 chr4:76396459-76396459;G/A missense_variant False CCDC158@p.L322V 1 0.201834862 ENSG00000163749 chr4:76379355-76379355;G/C missense_variant False CCDC173@p.R512T 1 0.363636364 None chr2:169645965-169645965;C/G missense_variant False CCDC158@p.E82Q 1 0.088888889 ENSG00000163749 chr4:76396313-76396313;C/G missense_variant False CCDC158@p.E483Q 1 0.398148148 ENSG00000163749 chr4:76367677-76367677;C/G missense_variant False CCDC158@p.D12H 1 0.239130435 ENSG00000163749 chr4:76403174-76403174;C/G missense_variant False CCDC157@p.R699L 1 0.111111111 ENSG00000187860 chr22:30376582-30376582;G/T missense_variant False CCDC157@p.L76M 1 0.363636364 ENSG00000187860 chr22:30366226-30366226;C/A missense_variant False CCDC157@p.E188Q 1 0.52173913 ENSG00000187860 chr22:30370467-30370467;G/C missense_variant False CCDC170@p.A579T 1 0.2875 ENSG00000120262 chr6:151615467-151615467;G/A missense_variant False CCDC170@p.D459E 1 0.479452055 ENSG00000120262 chr6:151593190-151593190;C/A missense_variant False CCDC170@p.L172V 1 0.131147541 ENSG00000120262 chr6:151544642-151544642;C/G missense_variant False CCDC171@p.E1151K 1 0.109375 ENSG00000164989 chr9:15848930-15848930;G/A missense_variant False CCDC171@p.F713L 1 0.317307692 ENSG00000164989 chr9:15744362-15744362;C/G missense_variant False CCDC171@p.I1217M 1 0.131147541 ENSG00000164989 chr9:15920320-15920320;C/G missense_variant False CCDC171@p.L1234F 1 0.394736842 ENSG00000164989 chr9:15920371-15920371;G/C missense_variant False CCDC171@p.Q553E 1 0.147826087 ENSG00000164989 chr9:15724941-15724941;C/G missense_variant False CCDC171@p.S894C 1 0.227272727 ENSG00000164989 chr9:15777609-15777609;C/G missense_variant False CCDC171@p.T243R 1 0.18 ENSG00000164989 chr9:15623319-15623319;C/G missense_variant False CCDC172@p.L161I 1 0.095238095 ENSG00000182645 chr10:116357412-116357412;T/A missense_variant False CCDC172@p.M129I 1 0.353383459 ENSG00000182645 chr10:116342140-116342140;G/T missense_variant False CCDC173@p.E210Q 1 0.046511628 None chr2:169674610-169674610;C/G missense_variant False CCDC173@p.E398K 1 0.29787234 None chr2:169649307-169649307;C/T missense_variant False CCDC173@p.L493V 1 0.28627451 None chr2:169646023-169646023;G/C missense_variant False CCDC173@p.R476K 1 0.4 None chr2:169646073-169646073;C/T missense_variant False CCDC173@p.R476T 1 0.259090909 None chr2:169646073-169646073;C/G missense_variant False CCDC183@p.E445K 1 0.166666667 ENSG00000213213 chr9:136806811-136806811;G/A missense_variant False CCDC183@p.I233M 1 0.407894737 ENSG00000213213 chr9:136804534-136804534;C/G missense_variant False CCDC183@p.L437F 1 0.114285714 ENSG00000213213 chr9:136806789-136806789;G/C missense_variant False CCDC27@p.P22Q 1 0.481481481 ENSG00000162592 chr1:3752546-3752546;C/A missense_variant False CCDC28A@p.R90T 1 0.178947368 ENSG00000024862 chr6:138779932-138779932;G/C missense_variant False CCDC28A@p.M55K 1 0.492537313 ENSG00000024862 chr6:138779827-138779827;T/A missense_variant False CCDC27@p.S25P 1 0.06122449 ENSG00000162592 chr1:3752554-3752554;T/C missense_variant False CCDC27@p.R126K 1 0.167567568 ENSG00000162592 chr1:3754176-3754176;G/A missense_variant False CCDC27@p.R125Q 1 0.161111111 ENSG00000162592 chr1:3754173-3754173;G/A missense_variant False CCDC27@p.Q448R 1 0.423913043 ENSG00000162592 chr1:3763727-3763727;A/G missense_variant False CCDC27@p.E416Q 1 0.307692308 ENSG00000162592 chr1:3763399-3763399;G/C missense_variant False CCDC198@p.E135Q 1 0.130434783 ENSG00000100557 chr14:57481651-57481651;C/G missense_variant False CCDC27@p.E152K 1 0.330788804 ENSG00000162592 chr1:3755468-3755468;G/A missense_variant False CCDC25@p.H112Y 1 0.069565217 ENSG00000147419 chr8:27748509-27748509;G/A missense_variant False CCDC24@p.R54G 1 0.392156863 ENSG00000159214 chr1:43992245-43992245;C/G missense_variant False CCDC24@p.M216I 1 0.221719457 ENSG00000159214 chr1:43995803-43995803;G/A missense_variant False CCDC22@p.H564L 1 0.47826087 ENSG00000101997 chrX:49249564-49249564;A/T missense_variant False CCDC198@p.S27L 1 0.181818182 ENSG00000100557 chr14:57493636-57493636;G/A missense_variant False CCDC28A@p.V178I 1 0.189189189 ENSG00000024862 chr6:138792780-138792780;G/A missense_variant False CCDC28B@p.E149Q 1 0.151515152 ENSG00000160050 chr1:32204299-32204299;G/C missense_variant False CCDC28B@p.E190K 1 0.166666667 ENSG00000160050 chr1:32205213-32205213;G/A missense_variant False CCDC30@p.D578H 1 0.425925926 ENSG00000186409 chr1:42637343-42637343;G/C missense_variant False CCDC30@p.E244K 1 0.333333333 ENSG00000186409 chr1:42556331-42556331;G/A missense_variant False CCDC30@p.E244Q 1 0.151515152 ENSG00000186409 chr1:42556331-42556331;G/C missense_variant False CCDC30@p.E332K 1 0.202898551 ENSG00000186409 chr1:42577029-42577029;G/A missense_variant False CCDC30@p.Q250E 1 0.193548387 ENSG00000186409 chr1:42556349-42556349;C/G missense_variant False CCDC30@p.S479F 1 0.4 ENSG00000186409 chr1:42589407-42589407;C/T missense_variant False CCDC32@p.K140N 1 0.168831169 ENSG00000128891 chr15:40554109-40554109;C/G missense_variant False CCDC33@p.D11N 1 0.375 ENSG00000140481 chr15:74243994-74243994;G/A missense_variant False CCDC33@p.E425K 1 0.368421053 ENSG00000140481 chr15:74295931-74295931;G/A missense_variant False CCDC33@p.E729Dfs*8 1 0.25 ENSG00000140481 chr15:74335972-74335976;GCCCC/- frameshift_variant False CCDC33@p.E97D 1 0.423076923 ENSG00000140481 chr15:74262545-74262545;G/C missense_variant False CCDC33@p.K323N 1 0.24 ENSG00000140481 chr15:74280747-74280747;G/C missense_variant False CCDC33@p.P302A 1 0.076923077 ENSG00000140481 chr15:74280682-74280682;C/G missense_variant False CCDC33@p.R245C 1 0.125 ENSG00000140481 chr15:74272865-74272865;C/T missense_variant False CCDC198@p.E284Q 1 0.333333333 ENSG00000100557 chr14:57471396-57471396;C/G missense_variant False CCDC198@p.D211N 1 0.391304348 ENSG00000100557 chr14:57480619-57480619;C/T missense_variant False CCDC183@p.M378L 1 0.403846154 ENSG00000213213 chr9:136806526-136806526;A/C missense_variant False CCDC189@p.R73L 1 0.176056338 None chr16:30761216-30761216;C/A missense_variant False CCDC18@p.E762K 1 0.291666667 ENSG00000122483 chr1:93226444-93226444;G/A missense_variant False CCDC18@p.E62Q 1 0.043478261 ENSG00000122483 chr1:93184027-93184027;G/C missense_variant False CCDC18@p.E226K 1 0.253333333 ENSG00000122483 chr1:93193722-93193722;G/A missense_variant False CCDC18@p.E1084Q 1 0.691666667 ENSG00000122483 chr1:93254525-93254525;G/C missense_variant False CCDC18@p.A636Sfs*10 1 0.115789474 ENSG00000122483 chr1:93217810-93217811;-/A frameshift_variant False CCDC18@p.A260T 1 0.486486486 ENSG00000122483 chr1:93201971-93201971;G/A missense_variant False CCDC186@p.S520T 1 0.30952381 ENSG00000165813 chr10:114135010-114135010;A/T missense_variant False CCDC197@p.Q23E 1 0.435897436 ENSG00000175699 chr14:93998198-93998198;C/G missense_variant False CCDC186@p.G75A 1 0.61 ENSG00000165813 chr10:114163045-114163045;C/G missense_variant False CCDC186@p.G318S 1 0.267857143 ENSG00000165813 chr10:114145698-114145698;C/T missense_variant False CCDC186@p.D231H 1 0.311111111 ENSG00000165813 chr10:114157622-114157622;C/G missense_variant False CCDC185@p.K513N 1 0.153284672 ENSG00000178395 chr1:223395014-223395014;G/C missense_variant False CCDC185@p.E54K 1 0.730769231 ENSG00000178395 chr1:223393635-223393635;G/A missense_variant False CCDC185@p.D580H 1 0.1 ENSG00000178395 chr1:223395213-223395213;G/C missense_variant False CCDC18@p.E826Q 1 0.151515152 ENSG00000122483 chr1:93236266-93236266;G/C missense_variant False CCDC18@p.E82K 1 0.533333333 ENSG00000122483 chr1:93184087-93184087;G/A missense_variant False CCDC18@p.K912N 1 0.47826087 ENSG00000122483 chr1:93239445-93239445;G/C missense_variant False CCDC18@p.Q1105E 1 0.22556391 ENSG00000122483 chr1:93254588-93254588;C/G missense_variant False CCDC18@p.R548T 1 0.36 ENSG00000122483 chr1:93214893-93214893;G/C missense_variant False CCDC190@p.E208K 1 0.330275229 ENSG00000185860 chr1:162855052-162855052;C/T missense_variant False CCDC190@p.E266K 1 0.347826087 ENSG00000185860 chr1:162854878-162854878;C/T missense_variant False CCDC190@p.E292K 1 0.225490196 ENSG00000185860 chr1:162854800-162854800;C/T missense_variant False CCDC190@p.F277C 1 0.511363636 ENSG00000185860 chr1:162854844-162854844;A/C missense_variant False CCDC190@p.Q9K 1 0.323529412 ENSG00000185860 chr1:162859622-162859622;G/T missense_variant False CCDC190@p.S166C 1 0.029666255 ENSG00000185860 chr1:162855177-162855177;G/C missense_variant False CCDC191@p.D803N 1 0.116564417 ENSG00000163617 chr3:113978911-113978911;C/T missense_variant False CCDC191@p.E301K 1 0.4 ENSG00000163617 chr3:114031697-114031697;C/T missense_variant False CCDC191@p.E861K 1 0.284210526 ENSG00000163617 chr3:113978211-113978211;C/T missense_variant False CCDC191@p.P126L 1 0.108433735 ENSG00000163617 chr3:114042741-114042741;G/A missense_variant False CCDC191@p.R14S 1 0.086956522 ENSG00000163617 chr3:114056425-114056425;C/G missense_variant False CCDC191@p.S9F 1 0.605263158 ENSG00000163617 chr3:114056441-114056441;G/A missense_variant False CCDC151@p.T49I 1 0.069444444 None chr19:11434871-11434871;G/A missense_variant False CCDC151@p.R60T 1 0.269662921 None chr19:11434838-11434838;C/G missense_variant False CCDC151@p.M318V 1 0.5 None chr19:11426155-11426155;T/C missense_variant False CCAR2@p.P30S 1 0.34893617 ENSG00000158941 chr8:22606114-22606114;C/T missense_variant False CCDC102B@p.Q490H 1 0.430107527 ENSG00000150636 chr18:69054065-69054065;G/C missense_variant False CCDC102B@p.E392K 1 0.134020619 ENSG00000150636 chr18:68897339-68897339;G/A missense_variant False CCDC102B@p.E301K 1 0.2 ENSG00000150636 chr18:68846386-68846386;G/A missense_variant False CCDC102B@p.D209H 1 0.189189189 ENSG00000150636 chr18:68838724-68838724;G/C missense_variant False CCBE1@p.S363C 1 0.306666667 ENSG00000183287 chr18:59436041-59436041;G/C missense_variant False CCAR2@p.S671L 1 0.24 ENSG00000158941 chr8:22617717-22617717;C/T missense_variant False CCAR2@p.D696N 1 0.911877395 ENSG00000158941 chr8:22618361-22618361;G/A missense_variant False CCAR1@p.K1135N 1 0.112903226 ENSG00000060339 chr10:68791218-68791218;G/C missense_variant False CCAR1@p.S806Kfs*5 1 0.266666667 ENSG00000060339 chr10:68771316-68771317;-/A frameshift_variant False CCAR1@p.S632C 1 0.23 ENSG00000060339 chr10:68757352-68757352;C/G missense_variant False CCAR1@p.S256C 1 0.101351351 ENSG00000060339 chr10:68747507-68747507;C/G missense_variant False CCAR1@p.R977W 1 0.214285714 ENSG00000060339 chr10:68787975-68787975;C/T missense_variant False CCAR1@p.R645Q 1 0.136363636 ENSG00000060339 chr10:68761020-68761020;G/A missense_variant False CCAR1@p.R424K 1 0.178571429 ENSG00000060339 chr10:68754004-68754004;G/A missense_variant False CCDC102B@p.R124K 1 0.381818182 ENSG00000150636 chr18:68837134-68837134;G/A missense_variant False CCDC102B@p.R508Sfs*34 1 0.193181818 ENSG00000150636 chr18:69054118-69054119;-/TTTTT frameshift_variant False CCDC106@p.E18Q 1 0.123152709 ENSG00000173581 chr19:55649225-55649225;G/C missense_variant False CCDC106@p.E70Q 1 0.214285714 ENSG00000173581 chr19:55649479-55649479;G/C missense_variant False CCDC106@p.R41W 1 0.27027027 ENSG00000173581 chr19:55649294-55649294;C/T missense_variant False CCDC110@p.G603E 1 0.371428571 ENSG00000168491 chr4:185458779-185458779;C/T missense_variant False CCDC110@p.I363M 1 0.368421053 ENSG00000168491 chr4:185459498-185459498;G/C missense_variant False CCDC110@p.L385I 1 0.101265823 ENSG00000168491 chr4:185459434-185459434;G/T missense_variant False CCDC110@p.N564S 1 0.366666667 ENSG00000168491 chr4:185458896-185458896;T/C missense_variant False CCDC110@p.P98A 1 0.703125 ENSG00000168491 chr4:185461105-185461105;G/C missense_variant False CCDC110@p.V750I 1 0.351351351 ENSG00000168491 chr4:185458339-185458339;C/T missense_variant False CCDC112@p.E414Q 1 0.088235294 ENSG00000164221 chr5:115268940-115268940;C/G missense_variant False CCDC113@p.E176K 1 0.166666667 ENSG00000103021 chr16:58258503-58258503;G/A missense_variant False CCDC113@p.E48Q 1 0.121212121 ENSG00000103021 chr16:58252767-58252767;G/C missense_variant False CCDC113@p.R63Q 1 0.361702128 ENSG00000103021 chr16:58252813-58252813;G/A missense_variant False CCDC114@p.E316K 1 0.130841121 None chr19:48303027-48303027;C/T missense_variant False CCDC114@p.H559R 1 0.466666667 None chr19:48297313-48297313;T/C missense_variant False CCAR1@p.Q213E 1 0.141025641 ENSG00000060339 chr10:68747377-68747377;C/G missense_variant False CCAR1@p.K1130N 1 0.625 ENSG00000060339 chr10:68789912-68789912;G/C missense_variant False CCDC116@p.E87K 1 0.083333333 ENSG00000161180 chr22:21634208-21634208;G/A missense_variant False CC2D1A@p.E113Q 1 0.289473684 ENSG00000132024 chr19:13912552-13912552;G/C missense_variant False CC2D1A@p.Q730H 1 0.357142857 ENSG00000132024 chr19:13927042-13927042;G/C missense_variant False CC2D1A@p.Q695E 1 0.225806452 ENSG00000132024 chr19:13926830-13926830;C/G missense_variant False CC2D1A@p.Q148H 1 0.5 ENSG00000132024 chr19:13913233-13913233;G/C missense_variant False CC2D1A@p.P813L 1 0.693333333 ENSG00000132024 chr19:13928014-13928014;C/T missense_variant False CC2D1A@p.G200S 1 0.052083333 ENSG00000132024 chr19:13913488-13913488;G/A missense_variant False CC2D1A@p.E614K 1 0.157894737 ENSG00000132024 chr19:13923711-13923711;G/A missense_variant False CC2D1A@p.D685H 1 0.320224719 ENSG00000132024 chr19:13926705-13926705;G/C missense_variant False CCAR1@p.E686Q 1 0.352941176 ENSG00000060339 chr10:68761142-68761142;G/C missense_variant False CBY2@p.S206W 1 0.58974359 ENSG00000174015 chr13:45713642-45713642;C/G missense_variant False CBY2@p.N64Y 1 0.166666667 ENSG00000174015 chr13:45713215-45713215;A/T missense_variant False CBY2@p.A235T 1 0.431372549 ENSG00000174015 chr13:45713728-45713728;G/A missense_variant False CBY1@p.E85Q 1 0.402439024 ENSG00000100211 chr22:38671138-38671138;G/C missense_variant False CBX8@p.A55V 1 0.515873016 ENSG00000141570 chr17:79796265-79796265;G/A missense_variant False CBX7@p.E219Q 1 0.057971014 ENSG00000100307 chr22:39133992-39133992;C/G missense_variant False CC2D1B@p.D45N 1 0.311688312 ENSG00000154222 chr1:52362683-52362683;C/T missense_variant False CC2D1B@p.E140D 1 0.55952381 ENSG00000154222 chr1:52361031-52361031;T/G missense_variant False CC2D1B@p.E397Q 1 0.176470588 ENSG00000154222 chr1:52359095-52359095;C/G missense_variant False CC2D1B@p.P372A 1 0.261904762 ENSG00000154222 chr1:52359262-52359262;G/C missense_variant False CC2D1B@p.Q673H 1 0.198019802 ENSG00000154222 chr1:52356239-52356239;C/A missense_variant False CC2D1B@p.R660P 1 0.225806452 ENSG00000154222 chr1:52356279-52356279;C/G missense_variant False CC2D2A@p.D1544H 1 0.414634146 ENSG00000048342 chr4:15599662-15599662;G/C missense_variant False CC2D2A@p.D200H 1 0.214285714 ENSG00000048342 chr4:15511304-15511304;G/C missense_variant False CC2D2A@p.D258H 1 0.433962264 ENSG00000048342 chr4:15514761-15514761;G/C missense_variant False CC2D2A@p.D436N 1 0.175 ENSG00000048342 chr4:15527603-15527603;G/A missense_variant False CC2D2A@p.G345A 1 0.347826087 ENSG00000048342 chr4:15516641-15516641;G/C missense_variant False CC2D2A@p.R132Q 1 0.152173913 ENSG00000048342 chr4:15502880-15502880;G/A missense_variant False CC2D2A@p.W584C 1 0.2 ENSG00000048342 chr4:15537064-15537064;G/C missense_variant False CC2D2B@p.E187K 1 0.111111111 ENSG00000188649 chr10:96019239-96019239;G/A missense_variant False CC2D2B@p.I85M 1 0.238095238 ENSG00000188649 chr10:96012666-96012666;C/G missense_variant False CC2D2B@p.I97T 1 0.285714286 ENSG00000188649 chr10:96012701-96012701;T/C missense_variant False CC2D2B@p.K22N 1 0.20754717 ENSG00000188649 chr10:96009869-96009869;G/C missense_variant False CCDC114@p.Q343H 1 0.135338346 None chr19:48302794-48302794;C/A missense_variant False CCDC116@p.L559S 1 0.048951049 ENSG00000161180 chr22:21636904-21636904;T/C missense_variant False CCDC151@p.K392N 1 0.125 None chr19:11422802-11422802;C/G missense_variant False CCDC144A@p.S381F 1 0.207792208 ENSG00000266302 chr17:16709199-16709199;C/T missense_variant False CCDC148@p.Q240E 1 0.366972477 ENSG00000153237 chr2:158338772-158338772;G/C missense_variant False CCDC148@p.L224F 1 0.260273973 ENSG00000153237 chr2:158338818-158338818;C/G missense_variant False CCDC146@p.G242R 1 0.19047619 ENSG00000135205 chr7:77259034-77259034;G/A missense_variant False CCDC146@p.E541K 1 0.118644068 ENSG00000135205 chr7:77279028-77279028;G/A missense_variant False CCDC146@p.E43Q 1 0.125 ENSG00000135205 chr7:77167795-77167795;G/C missense_variant False CCDC146@p.D20N 1 0.298245614 ENSG00000135205 chr7:77167726-77167726;G/A missense_variant False CCDC144A@p.L516F 1 0.363128492 ENSG00000266302 chr17:16709605-16709605;G/C missense_variant False CCDC141@p.R935L 1 0.11827957 ENSG00000163492 chr2:178856318-178856318;C/A missense_variant False CCDC144A@p.L1414R 1 0.166666667 ENSG00000266302 chr17:16772699-16772699;T/G missense_variant False CCDC144A@p.K109N 1 0.494252874 ENSG00000266302 chr17:16690727-16690727;G/C missense_variant False CCDC144A@p.H271Y 1 0.192982456 ENSG00000266302 chr17:16708868-16708868;C/T missense_variant False CCDC144A@p.E616Q 1 0.634146341 ENSG00000266302 chr17:16720613-16720613;G/C missense_variant False CCDC144A@p.E1204Q 1 0.19266055 ENSG00000266302 chr17:16761662-16761662;G/C missense_variant False CCDC142@p.Q22E 1 0.082474227 ENSG00000135637 chr2:74482774-74482774;G/C missense_variant False CCDC149@p.E225Q 1 0.414634146 ENSG00000181982 chr4:24836498-24836498;C/G missense_variant False CCDC149@p.R86S 1 0.736842105 ENSG00000181982 chr4:24873687-24873687;C/G missense_variant False CCDC14@p.D147N 1 0.576923077 ENSG00000175455 chr3:123949067-123949067;C/T missense_variant False CCDC14@p.D734G 1 0.191919192 ENSG00000175455 chr3:123915317-123915317;T/C missense_variant False CCDC14@p.E728Q 1 0.090196078 ENSG00000175455 chr3:123915336-123915336;C/G missense_variant False CCDC14@p.L561V 1 0.291666667 ENSG00000175455 chr3:123931220-123931220;G/C missense_variant False CCDC14@p.T251R 1 0.369230769 ENSG00000175455 chr3:123947273-123947273;G/C missense_variant False CCDC150@p.A830D 1 0.291666667 ENSG00000144395 chr2:196726032-196726032;C/A missense_variant False CCDC150@p.E517K 1 0.355555556 ENSG00000144395 chr2:196695085-196695085;G/A missense_variant False CCDC150@p.G458D 1 0.117647059 ENSG00000144395 chr2:196676664-196676664;G/A missense_variant False CCDC150@p.M384I 1 0.388888889 ENSG00000144395 chr2:196676157-196676157;G/C missense_variant False CCDC150@p.R103Q 1 0.291262136 ENSG00000144395 chr2:196656764-196656764;G/A missense_variant False CCDC151@p.A87T 1 0.189944134 None chr19:11431006-11431006;C/T missense_variant False CCDC151@p.E180Q 1 0.56 None chr19:11426947-11426947;C/G missense_variant False CCDC151@p.E287Q 1 0.1875 None chr19:11426248-11426248;C/G missense_variant False CCDC151@p.E568K 1 0.436363636 None chr19:11420921-11420921;C/T missense_variant False CCDC151@p.H586D 1 0.220930233 None chr19:11420867-11420867;G/C missense_variant False CCDC142@p.E192K 1 0.315789474 ENSG00000135637 chr2:74482264-74482264;C/T missense_variant False CCDC141@p.R836H 1 0.188679245 ENSG00000163492 chr2:178868093-178868093;C/T missense_variant False CCDC116@p.N429K 1 0.473684211 ENSG00000161180 chr22:21636515-21636515;C/A missense_variant False CCDC125@p.D469H 1 0.090909091 ENSG00000183323 chr5:69282860-69282860;C/G missense_variant False CCDC130@p.E318K 1 0.5 None chr19:13762829-13762829;G/A missense_variant False CCDC130@p.E171K 1 0.428571429 None chr19:13759210-13759210;G/A missense_variant False CCDC127@p.E116K 1 0.448275862 ENSG00000164366 chr5:205734-205734;C/T missense_variant False CCDC126@p.T133M 1 0.269230769 ENSG00000169193 chr7:23643090-23643090;C/T missense_variant False CCDC125@p.R91T 1 0.329457364 ENSG00000183323 chr5:69320269-69320269;C/G missense_variant False CCDC125@p.G26C 1 0.131428571 ENSG00000183323 chr5:69320465-69320465;C/A missense_variant False CCDC121@p.R168T 1 0.582417582 ENSG00000176714 chr2:27627297-27627297;C/G missense_variant False CCDC141@p.P1425S 1 0.783783784 ENSG00000163492 chr2:178836946-178836946;G/A missense_variant False CCDC121@p.Q214H 1 0.169811321 ENSG00000176714 chr2:27627158-27627158;C/G missense_variant False CCDC120@p.S345Pfs*8 1 0.259259259 ENSG00000147144 chrX:49067250-49067250;C/- frameshift_variant False CCDC120@p.S219L 1 0.314814815 ENSG00000147144 chrX:49065072-49065072;C/T missense_variant False CCDC117@p.I129V 1 0.1 ENSG00000159873 chr22:28781093-28781093;A/G missense_variant False CCDC117@p.E90K 1 0.406779661 ENSG00000159873 chr22:28780976-28780976;G/A missense_variant False CCDC116@p.R367Pfs*25 1 0.181818182 ENSG00000161180 chr22:21635156-21635157;-/C frameshift_variant False CCDC130@p.M89I 1 0.212121212 None chr19:13758877-13758877;G/T missense_variant False CCDC134@p.R217Q 1 0.463768116 ENSG00000100147 chr22:41825783-41825783;G/A missense_variant False CCDC136@p.D159H 1 0.533333333 ENSG00000128596 chr7:128801314-128801314;G/C missense_variant False CCDC136@p.R945Gfs*4 1 0.166666667 ENSG00000128596 chr7:128814703-128814703;G/- frameshift_variant False CCDC136@p.S120Y 1 0.43902439 ENSG00000128596 chr7:128801198-128801198;C/A missense_variant False CCDC138@p.E256K 1 0.260273973 ENSG00000163006 chr2:108804919-108804919;G/A missense_variant False CCDC138@p.I177M 1 0.193548387 ENSG00000163006 chr2:108794676-108794676;C/G missense_variant False CCDC138@p.I55M 1 0.494117647 ENSG00000163006 chr2:108788865-108788865;C/G missense_variant False CCDC138@p.S141W 1 0.359223301 ENSG00000163006 chr2:108794567-108794567;C/G missense_variant False CCDC141@p.E1175Q 1 0.888888889 ENSG00000163492 chr2:178837696-178837696;C/G missense_variant False CCDC141@p.E607K 1 0.40625 ENSG00000163492 chr2:178878044-178878044;C/T missense_variant False CCDC141@p.E777Q 1 0.226804124 ENSG00000163492 chr2:178869182-178869182;C/G missense_variant False CCDC141@p.F1272S 1 0.482352941 ENSG00000163492 chr2:178837404-178837404;A/G missense_variant False CCDC141@p.L1428S 1 0.236111111 ENSG00000163492 chr2:178836936-178836936;A/G missense_variant False CCDC141@p.L737F 1 0.466666667 ENSG00000163492 chr2:178869300-178869300;C/G missense_variant False CCDC141@p.M902I 1 0.852459016 ENSG00000163492 chr2:178865785-178865785;C/G missense_variant False CCDC141@p.P1425L 1 0.783783784 ENSG00000163492 chr2:178836945-178836945;G/A missense_variant False CCDC34@p.E104Q 1 0.369863014 ENSG00000109881 chr11:27362885-27362885;C/G missense_variant False CCDC34@p.E153K 1 0.145299145 ENSG00000109881 chr11:27357444-27357444;C/T missense_variant False CCNA1@p.E362Q 1 0.045045045 ENSG00000133101 chr13:36440169-36440169;G/C missense_variant False CCDC89@p.E343K 1 0.240740741 ENSG00000179071 chr11:85685104-85685104;C/T missense_variant False CCDC90B@p.S91L 1 0.534090909 ENSG00000137500 chr11:83278778-83278778;G/A missense_variant False CCDC90B@p.S28L 1 0.444444444 ENSG00000137500 chr11:83285890-83285890;G/A missense_variant False CCDC8@p.R40L 1 0.082840237 ENSG00000169515 chr19:46412692-46412692;C/A missense_variant False CCDC8@p.A438S 1 0.105263158 ENSG00000169515 chr19:46411499-46411499;C/A missense_variant False CCDC8@p.A217V 1 0.769230769 ENSG00000169515 chr19:46412161-46412161;G/A missense_variant False CCDC89@p.N51_G54delinsK 1 0.391891892 ENSG00000179071 chr11:85685970-85685978;CCCCGGAGG/- inframe_deletion False CCDC89@p.D85H 1 0.279069767 ENSG00000179071 chr11:85685878-85685878;C/G missense_variant False CCDC92@p.E149Q 1 0.3 ENSG00000119242 chr12:123937609-123937609;C/G missense_variant False CCDC88C@p.R353K 1 0.583333333 ENSG00000015133 chr14:91326049-91326049;C/T missense_variant False CCDC88C@p.Q686K 1 0.166666667 ENSG00000015133 chr14:91313760-91313760;G/T missense_variant False CCDC88C@p.P1986S 1 0.303030303 ENSG00000015133 chr14:91272756-91272756;G/A missense_variant False CCDC88C@p.M106I 1 0.2 ENSG00000015133 chr14:91359664-91359664;C/A missense_variant False CCDC88C@p.K781N 1 0.551020408 ENSG00000015133 chr14:91313473-91313473;C/G missense_variant False CCDC88C@p.E934K 1 0.363636364 ENSG00000015133 chr14:91309923-91309923;C/T missense_variant False CCDC91@p.K177R 1 0.376811594 ENSG00000123106 chr12:28307703-28307703;A/G missense_variant False CCDC92@p.I258F 1 0.428571429 ENSG00000119242 chr12:123937282-123937282;T/A missense_variant False CCDC34@p.R360S 1 0.945945946 ENSG00000109881 chr11:27338863-27338863;C/G missense_variant False CCDC96@p.R233S 1 0.266666667 ENSG00000173013 chr4:7042242-7042242;G/T missense_variant False CCDC9@p.R345T 1 0.089285714 ENSG00000105321 chr19:47270637-47270637;G/C missense_variant False CCDC97@p.R155H 1 0.441666667 ENSG00000142039 chr19:41316801-41316801;G/A missense_variant False CCDC97@p.D258N 1 0.217391304 ENSG00000142039 chr19:41319843-41319843;G/A missense_variant False CCDC97@p.A10G 1 0.333333333 ENSG00000142039 chr19:41310339-41310339;C/G missense_variant False CCDC96@p.R346W 1 0.397260274 ENSG00000173013 chr4:7041903-7041903;G/A missense_variant False CCDC96@p.R259K 1 0.15625 ENSG00000173013 chr4:7042163-7042163;C/T missense_variant False CCDC96@p.Q384H 1 0.371428571 ENSG00000173013 chr4:7041787-7041787;C/G missense_variant False CCDC92@p.I268Sfs*40 1 0.173913043 ENSG00000119242 chr12:123937253-123937253;G/- frameshift_variant False CCDC96@p.P191S 1 0.181818182 ENSG00000173013 chr4:7042368-7042368;G/A missense_variant False CCDC96@p.E292Q 1 0.1640625 ENSG00000173013 chr4:7042065-7042065;C/G missense_variant False CCDC93@p.V119A 1 0.088888889 ENSG00000125633 chr2:118000828-118000828;A/G missense_variant False CCDC93@p.S624C 1 0.210526316 ENSG00000125633 chr2:117920368-117920368;G/C missense_variant False CCDC92@p.S138N 1 0.157575758 ENSG00000119242 chr12:123937641-123937641;C/T missense_variant False CCDC92@p.R151W 1 0.48245614 ENSG00000119242 chr12:123937603-123937603;G/A missense_variant False CCDC88C@p.E437Q 1 0.235294118 ENSG00000015133 chr14:91324812-91324812;C/G missense_variant False CCDC88C@p.E361K 1 0.264705882 ENSG00000015133 chr14:91326026-91326026;C/T missense_variant False CCDC88C@p.E1559K 1 0.123076923 ENSG00000015133 chr14:91281481-91281481;C/T missense_variant False CCDC88A@p.E508Q 1 0.303030303 ENSG00000115355 chr2:55336815-55336815;C/G missense_variant False CCDC88A@p.L1527S 1 0.155963303 ENSG00000115355 chr2:55301964-55301964;A/G missense_variant False CCDC88A@p.K831N 1 0.378378378 ENSG00000115355 chr2:55334328-55334328;C/A missense_variant False CCDC88A@p.G1677E 1 0.225352113 ENSG00000115355 chr2:55296319-55296319;C/T missense_variant False CCDC88A@p.G1453A 1 0.543478261 ENSG00000115355 chr2:55308838-55308838;C/G missense_variant False CCDC88A@p.E872Q 1 0.19 ENSG00000115355 chr2:55334207-55334207;C/G missense_variant False CCDC88A@p.E752K 1 0.138297872 ENSG00000115355 chr2:55334567-55334567;C/T missense_variant False CCDC88A@p.E487Q 1 0.070422535 ENSG00000115355 chr2:55339523-55339523;C/G missense_variant False CCDC88C@p.A1905V 1 0.5 ENSG00000015133 chr14:91272998-91272998;G/A missense_variant False CCDC88A@p.E1288Q 1 0.164705882 ENSG00000115355 chr2:55315999-55315999;C/G missense_variant False CCDC88A@p.E1173K 1 0.48 ENSG00000115355 chr2:55317649-55317649;C/T missense_variant False CCDC88A@p.D393V 1 0.247524752 ENSG00000115355 chr2:55344378-55344378;T/A missense_variant False CCDC88A@p.D313H 1 0.451219512 ENSG00000115355 chr2:55346279-55346279;C/G missense_variant False CCDC88A@p.A1531V 1 0.350746269 ENSG00000115355 chr2:55301952-55301952;G/A missense_variant False CCDC87@p.I483V 1 0.359813084 ENSG00000182791 chr11:66591569-66591569;T/C missense_variant False CCDC88A@p.L1825F 1 0.229166667 ENSG00000115355 chr2:55295673-55295673;C/G missense_variant False CCDC88A@p.L224V 1 0.16 ENSG00000115355 chr2:55355709-55355709;G/C missense_variant False CCDC88A@p.L531V 1 0.109090909 ENSG00000115355 chr2:55336746-55336746;G/C missense_variant False CCDC88A@p.Q1018H 1 0.25 ENSG00000115355 chr2:55322636-55322636;C/G missense_variant False CCDC88A@p.R1592T 1 0.155 ENSG00000115355 chr2:55299889-55299889;C/G missense_variant False CCDC88A@p.R1651T 1 0.150943396 ENSG00000115355 chr2:55296397-55296397;C/G missense_variant False CCDC88A@p.R994C 1 0.264150943 ENSG00000115355 chr2:55328311-55328311;G/A missense_variant False CCDC88A@p.S1544F 1 0.845238095 ENSG00000115355 chr2:55301913-55301913;G/A missense_variant False CCDC88B@p.E1045Q 1 0.25 ENSG00000168071 chr11:64352163-64352163;G/C missense_variant False CCDC88B@p.E219Q 1 0.192307692 ENSG00000168071 chr11:64341722-64341722;G/C missense_variant False CCDC88B@p.E41Q 1 0.208333333 ENSG00000168071 chr11:64340667-64340667;G/C missense_variant False CCDC88B@p.E503K 1 0.229166667 ENSG00000168071 chr11:64344048-64344048;G/A missense_variant False CCDC88B@p.E559Q 1 0.370689655 ENSG00000168071 chr11:64344216-64344216;G/C missense_variant False CCDC88B@p.E584Q 1 0.14893617 ENSG00000168071 chr11:64344291-64344291;G/C missense_variant False CCDC88B@p.E707Q 1 0.380952381 ENSG00000168071 chr11:64344660-64344660;G/C missense_variant False CCDC88B@p.E733Q 1 0.357142857 ENSG00000168071 chr11:64344738-64344738;G/C missense_variant False CCDC88B@p.R1457G 1 0.130434783 ENSG00000168071 chr11:64355622-64355622;C/G missense_variant False CCDC9B@p.D234Gfs*26 1 0.205128205 ENSG00000188549 chr15:40337838-40337839;-/C frameshift_variant False CCDC9B@p.E486K 1 0.174603175 ENSG00000188549 chr15:40335307-40335307;C/T missense_variant False CCDC9B@p.G481E 1 0.167785235 ENSG00000188549 chr15:40335321-40335321;C/T missense_variant False CCL7@p.T30I 1 0.326086957 ENSG00000108688 chr17:34271158-34271158;C/T missense_variant False CCM2L@p.H40Y 1 0.29468599 ENSG00000101331 chr20:32014991-32014991;C/T missense_variant False CCM2L@p.A319T 1 0.480769231 ENSG00000101331 chr20:32022681-32022681;G/A missense_variant False CCM2@p.S181Y 1 0.433628319 ENSG00000136280 chr7:45068512-45068512;C/A missense_variant False CCM2@p.P189A 1 0.326241135 ENSG00000136280 chr7:45068535-45068535;C/G missense_variant False CCM2@p.I336M 1 0.348837209 ENSG00000136280 chr7:45074362-45074362;C/G missense_variant False CCM2@p.E64Q 1 0.471910112 ENSG00000136280 chr7:45038412-45038412;G/C missense_variant False CCL7@p.F66L 1 0.761904762 ENSG00000108688 chr17:34271700-34271700;C/G missense_variant False CCL22@p.M31I 1 0.37037037 ENSG00000102962 chr16:57360456-57360456;G/A missense_variant False CCL5@p.P76T 1 0.413265306 ENSG00000271503 chr17:35872427-35872427;G/T missense_variant False CCL3L3@p.R41Q 1 0.181818182 ENSG00000276085 chr17:36195867-36195867;C/T missense_variant False CCL3@p.S58F 1 0.159663866 ENSG00000277632 chr17:36089198-36089198;G/A missense_variant False CCL3@p.Q82H 1 0.205882353 ENSG00000277632 chr17:36088705-36088705;C/G missense_variant False CCL28@p.E21K 1 0.352941176 ENSG00000151882 chr5:43412256-43412256;C/T missense_variant False CCL27@p.N104I 1 0.388888889 ENSG00000213927 chr9:34661972-34661972;T/A missense_variant False CCM2L@p.S396F 1 0.425 ENSG00000101331 chr20:32029048-32029048;C/T missense_variant False CCN1@p.E268K 1 0.140625 ENSG00000142871 chr1:85582583-85582583;G/A missense_variant False CCN1@p.S237F 1 0.05 ENSG00000142871 chr1:85582491-85582491;C/T missense_variant False CCN1@p.V201A 1 0.051282051 ENSG00000142871 chr1:85582252-85582252;T/C missense_variant False CCN2@p.D186N 1 0.268292683 ENSG00000118523 chr6:131950146-131950146;C/T missense_variant False CCN2@p.E162K 1 0.148148148 ENSG00000118523 chr6:131950349-131950349;C/T missense_variant False CCN2@p.E231Q 1 0.31372549 ENSG00000118523 chr6:131950011-131950011;C/G missense_variant False CCN2@p.F305L 1 0.457943925 ENSG00000118523 chr6:131949399-131949399;G/T missense_variant False CCN2@p.S338P 1 0.108843537 ENSG00000118523 chr6:131949302-131949302;A/G missense_variant False CCN3@p.F129L 1 0.136363636 ENSG00000136999 chr8:119418134-119418134;C/A missense_variant False CCN3@p.K322N 1 0.268965517 ENSG00000136999 chr8:119423024-119423024;G/C missense_variant False CCN4@p.S104N 1 0.123626374 ENSG00000104415 chr8:133213105-133213105;G/A missense_variant False CCN5@p.E196K 1 0.369565217 ENSG00000064205 chr20:44727140-44727140;G/A missense_variant False CCN5@p.E62K 1 0.2 ENSG00000064205 chr20:44720020-44720020;G/A missense_variant False CCN5@p.M212K 1 0.240437158 ENSG00000064205 chr20:44727189-44727189;T/A missense_variant False CCN6@p.K80N 1 0.726190476 ENSG00000112761 chr6:112061182-112061182;G/T missense_variant False CCN6@p.L9V 1 0.869158879 ENSG00000112761 chr6:112054382-112054382;C/G missense_variant False CCL26@p.L42F 1 0.338028169 ENSG00000006606 chr7:75771953-75771953;G/A missense_variant False CCL22@p.K90N 1 0.135135135 ENSG00000102962 chr16:57363576-57363576;G/T missense_variant False CCDC9B@p.L470P 1 0.327272727 ENSG00000188549 chr15:40335354-40335354;A/G missense_variant False CCHCR1@p.E426K 1 0.104166667 ENSG00000204536 chr6:31148442-31148442;C/T missense_variant False CCIN@p.F219L 1 0.204081633 ENSG00000185972 chr9:36170159-36170159;C/G missense_variant False CCIN@p.E464Q 1 0.368 ENSG00000185972 chr9:36170892-36170892;G/C missense_variant False CCHCR1@p.V359L 1 0.325581395 ENSG00000204536 chr6:31150086-31150086;C/G missense_variant False CCHCR1@p.S725L 1 0.09190372 ENSG00000204536 chr6:31143013-31143013;G/A missense_variant False CCHCR1@p.R621S 1 0.173333333 ENSG00000204536 chr6:31144724-31144724;C/A missense_variant False CCHCR1@p.M780I 1 0.303571429 ENSG00000204536 chr6:31142601-31142601;C/T missense_variant False CCHCR1@p.E217Q 1 0.050179211 ENSG00000204536 chr6:31151008-31151008;C/G missense_variant False CCL21@p.K39N 1 0.683168317 ENSG00000137077 chr9:34709848-34709848;C/G missense_variant False CCHCR1@p.E144K 1 0.146825397 ENSG00000204536 chr6:31154600-31154600;C/T missense_variant False CCER1@p.W35S 1 0.2 ENSG00000197651 chr12:90954639-90954639;C/G missense_variant False CCER1@p.Q217H 1 0.395555556 ENSG00000197651 chr12:90954092-90954092;C/A missense_variant False CCER1@p.E326K 1 0.333333333 ENSG00000197651 chr12:90953767-90953767;C/T missense_variant False CCDC9B@p.S55F 1 0.678571429 ENSG00000188549 chr15:40339996-40339996;G/A missense_variant False CCDC9B@p.S492F 1 0.523809524 ENSG00000188549 chr15:40335288-40335288;G/A missense_variant False CCIN@p.N226K 1 0.333333333 ENSG00000185972 chr9:36170180-36170180;T/A missense_variant False CCKAR@p.A396V 1 0.196078431 ENSG00000163394 chr4:26481738-26481738;G/A missense_variant False CCKAR@p.D203H 1 0.49122807 ENSG00000163394 chr4:26485656-26485656;C/G missense_variant False CCKBR@p.A129V 1 0.551020408 ENSG00000110148 chr11:6269903-6269903;C/T missense_variant False CCKBR@p.G183R 1 0.168316832 ENSG00000110148 chr11:6270231-6270231;G/A missense_variant False CCKBR@p.G315E 1 0.280898876 ENSG00000110148 chr11:6271143-6271143;G/A missense_variant False CCKBR@p.R280Gfs*27 1 0.378378378 ENSG00000110148 chr11:6271036-6271036;C/- frameshift_variant False CCKBR@p.R356C 1 0.205128205 ENSG00000110148 chr11:6271265-6271265;C/T missense_variant False CCKBR@p.R57K 1 0.230215827 ENSG00000110148 chr11:6269687-6269687;G/A missense_variant False CCL13@p.F65L 1 0.098039216 ENSG00000181374 chr17:34358029-34358029;C/G missense_variant False CCL13@p.K80N 1 0.389830508 ENSG00000181374 chr17:34358074-34358074;G/C missense_variant False CCL14@p.K81E 1 0.22972973 ENSG00000276409 chr17:35983842-35983842;T/C missense_variant False CCL15@p.P41S 1 0.371900826 ENSG00000275718 chr17:35998881-35998881;G/A missense_variant False CCL1@p.F35L 1 0.275862069 ENSG00000108702 chr17:34361868-34361868;G/C missense_variant False CCL1@p.S58C 1 0.302325581 ENSG00000108702 chr17:34361800-34361800;G/C missense_variant False CCL1@p.S58F 1 0.304477612 ENSG00000108702 chr17:34361800-34361800;G/A missense_variant False CCL20@p.A62D 1 0.107142857 ENSG00000115009 chr2:227815562-227815562;C/A missense_variant False CCDC87@p.H425Y 1 0.316666667 ENSG00000182791 chr11:66591743-66591743;G/A missense_variant False CCDC87@p.F179L 1 0.333333333 ENSG00000182791 chr11:66592479-66592479;G/C missense_variant False CCDC87@p.E355K 1 0.25 ENSG00000182791 chr11:66591953-66591953;C/T missense_variant False CCDC57@p.E91K 1 0.145454545 ENSG00000176155 chr17:82201674-82201674;C/T missense_variant False CCDC59@p.D142N 1 0.102941176 ENSG00000133773 chr12:82357000-82357000;C/T missense_variant False CCDC57@p.Y59C 1 0.159090909 ENSG00000176155 chr17:82201769-82201769;T/C missense_variant False CCDC57@p.W21C 1 0.136363636 ENSG00000176155 chr17:82201882-82201882;C/A missense_variant False CCDC57@p.Q468R 1 0.294117647 ENSG00000176155 chr17:82178577-82178577;T/C missense_variant False CCDC57@p.P809T 1 0.25 ENSG00000176155 chr17:82127830-82127830;G/T missense_variant False CCDC57@p.L695F 1 0.130434783 ENSG00000176155 chr17:82157906-82157906;G/A missense_variant False CCDC54@p.T260A 1 0.5 ENSG00000138483 chr3:107378365-107378365;A/G missense_variant False CCDC51@p.E229K 1 0.216 ENSG00000164051 chr3:48432959-48432959;C/T missense_variant False CCDC54@p.S19L 1 0.371681416 ENSG00000138483 chr3:107377643-107377643;C/T missense_variant False CCDC54@p.S192L 1 0.157894737 ENSG00000138483 chr3:107378162-107378162;C/T missense_variant False CCDC54@p.S185A 1 0.263565891 ENSG00000138483 chr3:107378140-107378140;T/G missense_variant False CCDC54@p.S128C 1 0.5 ENSG00000138483 chr3:107377970-107377970;C/G missense_variant False CCDC51@p.S300L 1 0.271604938 ENSG00000164051 chr3:48432745-48432745;G/A missense_variant False CCDC51@p.R113G 1 0.198113208 ENSG00000164051 chr3:48433847-48433847;G/C missense_variant False CCDC60@p.E314K 1 0.209876543 ENSG00000183273 chr12:119516679-119516679;G/A missense_variant False CCDC60@p.K81N 1 0.269230769 ENSG00000183273 chr12:119472066-119472066;G/C missense_variant False CCDC60@p.Q87R 1 0.22556391 ENSG00000183273 chr12:119472083-119472083;A/G missense_variant False CCDC60@p.S335Y 1 0.507177033 ENSG00000183273 chr12:119520156-119520156;C/A missense_variant False CCDC61@p.I121M 1 0.347619048 ENSG00000104983 chr19:46006690-46006690;C/G missense_variant False CCDC62@p.E102Q 1 0.048387097 ENSG00000130783 chr12:122781238-122781238;G/C missense_variant False CCDC62@p.E494K 1 0.139534884 ENSG00000130783 chr12:122801626-122801626;G/A missense_variant False CCDC62@p.E659K 1 0.136986301 ENSG00000130783 chr12:122813393-122813393;G/A missense_variant False CCDC62@p.Q487E 1 0.364864865 ENSG00000130783 chr12:122801605-122801605;C/G missense_variant False CCDC62@p.R260T 1 0.384615385 ENSG00000130783 chr12:122797313-122797313;G/C missense_variant False CCDC63@p.K64N 1 0.275862069 ENSG00000173093 chr12:110858598-110858598;G/C missense_variant False CCDC63@p.Q54H 1 0.245283019 ENSG00000173093 chr12:110853557-110853557;G/T missense_variant False CCDC63@p.R336W 1 0.21875 ENSG00000173093 chr12:110884182-110884182;C/T missense_variant False CCDC63@p.S243C 1 0.108695652 ENSG00000173093 chr12:110881171-110881171;C/G missense_variant False CCDC63@p.S2F 1 0.451612903 ENSG00000173093 chr12:110852959-110852959;C/T missense_variant False CCDC63@p.V268I 1 0.285714286 ENSG00000173093 chr12:110881245-110881245;G/A missense_variant False CCDC65@p.E154K 1 0.407407407 ENSG00000139537 chr12:48914563-48914563;G/A missense_variant False CCDC51@p.G240E 1 0.460674157 ENSG00000164051 chr3:48432925-48432925;C/T missense_variant False CCDC50@p.S474C 1 0.208955224 ENSG00000152492 chr3:191389594-191389594;C/G missense_variant False CCDC65@p.E257Q 1 0.316666667 ENSG00000139537 chr12:48918434-48918434;G/C missense_variant False CCDC39@p.E8K 1 0.414457831 ENSG00000284862 chr3:180679359-180679359;C/T missense_variant False CCDC40@p.D273N 1 0.2 ENSG00000141519 chr17:80048723-80048723;G/A missense_variant False CCDC3@p.E196K 1 0.522727273 ENSG00000151468 chr10:12898643-12898643;C/T missense_variant False CCDC39@p.V391A 1 0.151515152 ENSG00000284862 chr3:180648355-180648355;A/G missense_variant False CCDC39@p.T571P 1 0.289473684 ENSG00000284862 chr3:180642156-180642156;T/G missense_variant False CCDC39@p.S3I 1 0.262068966 ENSG00000284862 chr3:180679373-180679373;C/A missense_variant False CCDC39@p.M609V 1 0.220588235 ENSG00000284862 chr3:180642042-180642042;T/C missense_variant False CCDC39@p.E257Q 1 0.19047619 ENSG00000284862 chr3:180654923-180654923;C/G missense_variant False CCDC50@p.R399Q 1 0.388888889 ENSG00000152492 chr3:191380886-191380886;G/A missense_variant False CCDC38@p.M487I 1 0.476190476 ENSG00000165972 chr12:95872278-95872278;C/T missense_variant False CCDC38@p.I28M 1 0.123893805 ENSG00000165972 chr12:95918930-95918930;G/C missense_variant False CCDC38@p.E491Q 1 0.144508671 ENSG00000165972 chr12:95872268-95872268;C/G missense_variant False CCDC38@p.E272Q 1 0.37037037 ENSG00000165972 chr12:95890889-95890889;C/G missense_variant False CCDC38@p.D424N 1 0.25 ENSG00000165972 chr12:95878219-95878219;C/T missense_variant False CCDC34@p.S68C 1 0.084745763 ENSG00000109881 chr11:27362992-27362992;G/C missense_variant False CCDC40@p.E1080Q 1 0.272727273 ENSG00000141519 chr17:80099584-80099584;G/C missense_variant False CCDC40@p.E1137Q 1 0.545454545 ENSG00000141519 chr17:80099755-80099755;G/C missense_variant False CCDC40@p.E265K 1 0.126984127 ENSG00000141519 chr17:80048699-80048699;G/A missense_variant False CCDC40@p.K492N 1 0.191780822 ENSG00000141519 chr17:80065520-80065520;G/C missense_variant False CCDC42@p.E209G 1 0.181818182 ENSG00000161973 chr17:8735478-8735478;T/C missense_variant False CCDC42@p.E34K 1 0.520833333 ENSG00000161973 chr17:8744168-8744168;C/T missense_variant False CCDC42@p.L266V 1 0.179487179 ENSG00000161973 chr17:8735173-8735173;G/C missense_variant False CCDC47@p.D253Y 1 0.636363636 ENSG00000108588 chr17:63756549-63756549;C/A missense_variant False CCDC47@p.E103Q 1 0.142857143 ENSG00000108588 chr17:63764805-63764805;C/G missense_variant False CCDC47@p.M151I 1 0.443181818 ENSG00000108588 chr17:63764110-63764110;C/A missense_variant False CCDC47@p.M237I 1 0.333333333 ENSG00000108588 chr17:63760938-63760938;C/T missense_variant False CCDC47@p.M445I 1 0.365853659 ENSG00000108588 chr17:63751976-63751976;C/T missense_variant False CCDC47@p.P119L 1 0.248175182 ENSG00000108588 chr17:63764756-63764756;G/A missense_variant False CCDC47@p.P126A 1 0.210526316 ENSG00000108588 chr17:63764187-63764187;G/C missense_variant False CCDC47@p.S53F 1 0.226277372 ENSG00000108588 chr17:63766018-63766018;G/A missense_variant False CCDC50@p.I6M 1 0.428571429 ENSG00000152492 chr3:191329692-191329692;C/G missense_variant False CCDC50@p.I97V 1 0.396825397 ENSG00000152492 chr3:191361118-191361118;A/G missense_variant False CCDC65@p.E257D 1 0.4375 ENSG00000139537 chr12:48918436-48918436;G/T missense_variant False CCDC65@p.I443M 1 0.242857143 ENSG00000139537 chr12:48921317-48921317;C/G missense_variant False CCDC87@p.E117K 1 0.385185185 ENSG00000182791 chr11:66592667-66592667;C/T missense_variant False CCDC80@p.R115C 1 0.387096774 ENSG00000091986 chr3:112639563-112639563;G/A missense_variant False CCDC81@p.I509T 1 0.108108108 ENSG00000149201 chr11:86415148-86415148;T/C missense_variant False CCDC81@p.E225D 1 0.225806452 ENSG00000149201 chr11:86397660-86397660;G/C missense_variant False CCDC81@p.D609N 1 0.262295082 ENSG00000149201 chr11:86422581-86422581;G/A missense_variant False CCDC81@p.D351N 1 0.235294118 ENSG00000149201 chr11:86408208-86408208;G/A missense_variant False CCDC80@p.S795L 1 0.333333333 ENSG00000091986 chr3:112610019-112610019;G/A missense_variant False CCDC80@p.S205N 1 0.503496503 ENSG00000091986 chr3:112639292-112639292;C/T missense_variant False CCDC80@p.K765Sfs*19 1 0.106382979 ENSG00000091986 chr3:112616737-112616737;T/- frameshift_variant False CCDC78@p.R92W 1 0.210526316 ENSG00000162004 chr16:725574-725574;G/A missense_variant False CCDC80@p.K491E 1 0.086021505 ENSG00000091986 chr3:112638435-112638435;T/C missense_variant False CCDC80@p.E830Q 1 0.182795699 ENSG00000091986 chr3:112607194-112607194;C/G missense_variant False CCDC7@p.T1165N 1 0.422680412 ENSG00000216937 chr10:32845600-32845600;C/A missense_variant False CCDC7@p.S825T 1 0.178082192 ENSG00000216937 chr10:32711634-32711634;T/A missense_variant False CCDC7@p.R814K 1 0.4375 ENSG00000216937 chr10:32694975-32694975;G/A missense_variant False CCDC7@p.E845K 1 0.153846154 ENSG00000216937 chr10:32711694-32711694;G/A missense_variant False CCDC81@p.K471N 1 0.210526316 ENSG00000149201 chr11:86414810-86414810;A/T missense_variant False CCDC81@p.R197K 1 0.3125 ENSG00000149201 chr11:86395368-86395368;G/A missense_variant False CCDC82@p.D159Y 1 0.188405797 ENSG00000149231 chr11:96384273-96384273;C/A missense_variant False CCDC82@p.D68H 1 0.1 ENSG00000149231 chr11:96384546-96384546;C/G missense_variant False CCDC82@p.E288K 1 0.485714286 ENSG00000149231 chr11:96383398-96383398;C/T missense_variant False CCDC82@p.L137F 1 0.19 ENSG00000149231 chr11:96384339-96384339;G/A missense_variant False CCDC82@p.R466T 1 0.5 ENSG00000149231 chr11:96359162-96359162;C/G missense_variant False CCDC82@p.V4I 1 0.727272727 ENSG00000149231 chr11:96384738-96384738;C/T missense_variant False CCDC83@p.K104Sfs*10 1 0.18556701 ENSG00000150676 chr11:85882642-85882642;A/- frameshift_variant False CCDC83@p.K357del 1 0.110169492 ENSG00000150676 chr11:85916220-85916222;AGA/- inframe_deletion False CCDC83@p.Q68H 1 0.1 ENSG00000150676 chr11:85882536-85882536;G/C missense_variant False CCDC85A@p.A201T 1 0.35 ENSG00000055813 chr2:56192801-56192801;G/A missense_variant False CCDC85A@p.A510S 1 0.242424242 ENSG00000055813 chr2:56375891-56375891;G/T missense_variant False CCDC85A@p.D494H 1 0.083333333 ENSG00000055813 chr2:56375843-56375843;G/C missense_variant False CCDC85A@p.N162S 1 0.394736842 ENSG00000055813 chr2:56192685-56192685;A/G missense_variant False CCDC86@p.E290Q 1 0.320754717 ENSG00000110104 chr11:60848033-60848033;G/C missense_variant False CCDC86@p.K298N 1 0.24 ENSG00000110104 chr11:60849945-60849945;G/T missense_variant False CCDC78@p.R96W 1 0.95 ENSG00000162004 chr16:725562-725562;G/A missense_variant False CCDC78@p.K149N 1 0.526717557 ENSG00000162004 chr16:725282-725282;C/A missense_variant False CCDC65@p.L384V 1 0.507692308 ENSG00000139537 chr12:48921053-48921053;C/G missense_variant False CCDC6@p.G38R 1 0.2 ENSG00000108091 chr10:59906313-59906313;C/T missense_variant False CCDC71@p.W339_V349del 1 0.322580645 ENSG00000177352 chr3:49163162-49163194;TACTGCCTTGGCTTTAGCCTTGGCCTTGGCCCA/- inframe_deletion False CCDC71@p.T115S 1 0.371900826 ENSG00000177352 chr3:49163866-49163866;T/A missense_variant False CCDC71@p.R294C 1 0.111111111 ENSG00000177352 chr3:49163329-49163329;G/A missense_variant False CCDC70@p.E57Q 1 0.115384615 ENSG00000123171 chr13:51865580-51865580;G/C missense_variant False CCDC6@p.S20L 1 0.121212121 ENSG00000108091 chr10:59906366-59906366;G/A missense_variant False CCDC6@p.I409M 1 0.134615385 ENSG00000108091 chr10:59794476-59794476;G/C missense_variant False CCDC69@p.R87P 1 0.093567251 ENSG00000198624 chr5:151199056-151199056;C/G missense_variant False CCDC78@p.E155K 1 0.173410405 ENSG00000162004 chr16:725266-725266;C/T missense_variant False CCDC66@p.W288del 1 0.364864865 ENSG00000180376 chr3:56571227-56571229;ATG/- inframe_deletion False CCDC66@p.E938K 1 0.341176471 ENSG00000180376 chr3:56621583-56621583;G/A missense_variant False CCDC66@p.E531Q 1 0.243243243 ENSG00000180376 chr3:56615152-56615152;G/C missense_variant False CCDC66@p.E270Q 1 0.047619048 ENSG00000180376 chr3:56567047-56567047;G/C missense_variant False CCDC66@p.E143K 1 0.462962963 ENSG00000180376 chr3:56564008-56564008;G/A missense_variant False CCDC66@p.D343N 1 0.391891892 ENSG00000180376 chr3:56593060-56593060;G/A missense_variant False CCDC73@p.I545K 1 0.538461538 ENSG00000186714 chr11:32614684-32614684;A/T missense_variant False CCDC73@p.I58T 1 0.55 ENSG00000186714 chr11:32718110-32718110;A/G missense_variant False CCDC73@p.L1043V 1 0.573033708 ENSG00000186714 chr11:32602924-32602924;G/C missense_variant False CCDC73@p.L977F 1 0.240740741 ENSG00000186714 chr11:32611231-32611231;C/G missense_variant False CCDC73@p.P608T 1 0.155555556 ENSG00000186714 chr11:32614496-32614496;G/T missense_variant False CCDC73@p.S132C 1 0.8 ENSG00000186714 chr11:32683570-32683570;G/C missense_variant False CCDC74A@p.G155D 1 0.095890411 ENSG00000163040 chr2:131530747-131530747;G/A missense_variant False CCDC74A@p.K297N 1 0.06779661 ENSG00000163040 chr2:131532878-131532878;G/C missense_variant False CCDC74A@p.P132S 1 0.28358209 ENSG00000163040 chr2:131530677-131530677;C/T missense_variant False CCDC74A@p.R26L 1 0.321428571 ENSG00000163040 chr2:131528047-131528047;G/T missense_variant False CCDC74B@p.G155D 1 0.333333333 ENSG00000152076 chr2:130142213-130142213;C/T missense_variant False CCDC74B@p.T322M 1 0.328571429 ENSG00000152076 chr2:130139933-130139933;G/A missense_variant False CCDC77@p.D133N 1 0.150326797 ENSG00000120647 chr12:418620-418620;G/A missense_variant False CCDC77@p.L451I 1 0.095238095 ENSG00000120647 chr12:441804-441804;C/A missense_variant False CCDC77@p.M383I 1 0.208955224 ENSG00000120647 chr12:440724-440724;G/A missense_variant False CCDC77@p.P167L 1 0.292775665 ENSG00000120647 chr12:428855-428855;C/T missense_variant False CCDC77@p.V417L 1 0.383561644 ENSG00000120647 chr12:440925-440925;G/T missense_variant False CDH10@p.Q538E 1 0.047619048 ENSG00000040731 chr5:24492829-24492829;G/C missense_variant False CDH11@p.A112D 1 0.171428571 ENSG00000140937 chr16:64998750-64998750;G/T missense_variant False CFAP61@p.E132Q 1 0.191919192 ENSG00000089101 chr20:20075211-20075211;G/C missense_variant False CEP128@p.D1014H 1 0.246031746 ENSG00000100629 chr14:80526901-80526901;C/G missense_variant False CEP131@p.E1012K 1 0.526315789 ENSG00000141577 chr17:81190721-81190721;C/T missense_variant False CEP128@p.S298L 1 0.133333333 ENSG00000100629 chr14:80838235-80838235;G/A missense_variant False CEP128@p.Q329E 1 0.276595745 ENSG00000100629 chr14:80836277-80836277;G/C missense_variant False CEP128@p.E578Q 1 0.108433735 ENSG00000100629 chr14:80785374-80785374;C/G missense_variant False CEP128@p.E505D 1 0.4 ENSG00000100629 chr14:80792805-80792805;C/A missense_variant False CEP128@p.D945H 1 0.376470588 ENSG00000100629 chr14:80580397-80580397;C/G missense_variant False CEP126@p.T678A 1 0.411458333 ENSG00000110318 chr11:101963067-101963067;A/G missense_variant False CEP131@p.E819K 1 0.4375 ENSG00000141577 chr17:81192577-81192577;C/T missense_variant False CEP126@p.S399Y 1 0.571428571 ENSG00000110318 chr11:101962231-101962231;C/A missense_variant False CEP126@p.S20L 1 0.299065421 ENSG00000110318 chr11:101915343-101915343;C/T missense_variant False CEP126@p.S1092Y 1 0.230769231 ENSG00000110318 chr11:101992808-101992808;C/A missense_variant False CEP126@p.R473K 1 0.557377049 ENSG00000110318 chr11:101962453-101962453;G/A missense_variant False CEP126@p.P826R 1 0.361702128 ENSG00000110318 chr11:101963512-101963512;C/G missense_variant False CEP126@p.M200I 1 0.116438356 ENSG00000110318 chr11:101958261-101958261;G/C missense_variant False CEP131@p.E753K 1 0.625 ENSG00000141577 chr17:81193999-81193999;C/T missense_variant False CEP131@p.E887K 1 0.2375 ENSG00000141577 chr17:81191308-81191308;C/T missense_variant False CEP350@p.D2823N 1 0.424242424 ENSG00000135837 chr1:180094572-180094572;G/A missense_variant False CEP152@p.G1566A 1 0.205882353 ENSG00000103995 chr15:48738685-48738685;C/G missense_variant False CEP152@p.S1078F 1 0.293706294 ENSG00000103995 chr15:48756015-48756015;G/A missense_variant False CEP152@p.S1075L 1 0.518518519 ENSG00000103995 chr15:48756024-48756024;G/A missense_variant False CEP152@p.Q1320H 1 0.206896552 ENSG00000103995 chr15:48741976-48741976;T/A missense_variant False CEP152@p.M462V 1 0.158536585 ENSG00000103995 chr15:48782168-48782168;T/C missense_variant False CEP152@p.L563M 1 0.391304348 ENSG00000103995 chr15:48772582-48772582;G/T missense_variant False CEP152@p.K368N 1 0.45505618 ENSG00000103995 chr15:48788870-48788870;C/A missense_variant False CEP152@p.D1110N 1 0.266055046 ENSG00000103995 chr15:48755920-48755920;C/T missense_variant False CEP131@p.E923K 1 0.223404255 ENSG00000141577 chr17:81191200-81191200;C/T missense_variant False CEP135@p.S948L 1 0.129032258 ENSG00000174799 chr4:56017688-56017688;C/T missense_variant False CEP135@p.S303F 1 0.111111111 ENSG00000174799 chr4:55965723-55965723;C/T missense_variant False CEP135@p.D989H 1 0.390243902 ENSG00000174799 chr4:56017810-56017810;G/C missense_variant False CEP131@p.Q660H 1 0.210526316 ENSG00000141577 chr17:81195880-81195880;C/G missense_variant False CEP131@p.E941Q 1 0.194690265 ENSG00000141577 chr17:81191038-81191038;C/G missense_variant False CEP131@p.E939K 1 0.173333333 ENSG00000141577 chr17:81191044-81191044;C/T missense_variant False CEP126@p.L1049I 1 0.436893204 ENSG00000110318 chr11:101986942-101986942;C/A missense_variant False CEP126@p.I889K 1 0.583333333 ENSG00000110318 chr11:101963701-101963701;T/A missense_variant False CEP126@p.H647Y 1 0.583333333 ENSG00000110318 chr11:101962974-101962974;C/T missense_variant False CEP104@p.D203H 1 0.468085106 ENSG00000116198 chr1:3839736-3839736;C/G missense_variant False CEP104@p.E627K 1 0.208955224 ENSG00000116198 chr1:3829955-3829955;C/T missense_variant False CEP104@p.E333Q 1 0.357142857 ENSG00000116198 chr1:3837414-3837414;C/G missense_variant False CEP104@p.E23K 1 0.140625 ENSG00000116198 chr1:3852341-3852341;C/T missense_variant False CEP104@p.D784Y 1 0.571428571 ENSG00000116198 chr1:3825772-3825772;C/A missense_variant False CEP104@p.D677H 1 0.2 ENSG00000116198 chr1:3829805-3829805;C/G missense_variant False CEP104@p.D231H 1 0.669230769 ENSG00000116198 chr1:3839652-3839652;C/G missense_variant False CEP104@p.A424T 1 0.271186441 ENSG00000116198 chr1:3836542-3836542;C/T missense_variant False CEP126@p.E998K 1 0.304347826 ENSG00000110318 chr11:101981922-101981922;G/A missense_variant False CENPU@p.K315N 1 0.075471698 ENSG00000151725 chr4:184700861-184700861;C/G missense_variant False CENPU@p.I407M 1 0.209302326 ENSG00000151725 chr4:184695324-184695324;G/C missense_variant False CENPU@p.G101A 1 0.246376812 ENSG00000151725 chr4:184724975-184724975;C/G missense_variant False CENPU@p.D233N 1 0.216216216 ENSG00000151725 chr4:184710172-184710172;C/T missense_variant False CENPT@p.S373F 1 0.057971014 ENSG00000102901 chr16:67829833-67829833;G/A missense_variant False CENPT@p.P325A 1 0.421487603 ENSG00000102901 chr16:67829978-67829978;G/C missense_variant False CEP104@p.E697Q 1 0.365853659 ENSG00000116198 chr1:3829328-3829328;C/G missense_variant False CEP104@p.K811N 1 0.083333333 ENSG00000116198 chr1:3823494-3823494;C/A missense_variant False CEP104@p.L425F 1 0.085106383 ENSG00000116198 chr1:3836537-3836537;C/G missense_variant False CEP104@p.R920K 1 0.526315789 ENSG00000116198 chr1:3815421-3815421;C/T missense_variant False CEP112@p.E316Q 1 0.142857143 ENSG00000154240 chr17:66066787-66066787;C/G missense_variant False CEP112@p.L911F 1 0.389380531 ENSG00000154240 chr17:65641030-65641030;C/A missense_variant False CEP112@p.M395I 1 0.196531792 ENSG00000154240 chr17:66053769-66053769;C/T missense_variant False CEP112@p.Q746P 1 0.698113208 ENSG00000154240 chr17:65851961-65851961;T/G missense_variant False CEP112@p.S141C 1 0.139830508 ENSG00000154240 chr17:66175092-66175092;G/C missense_variant False CEP120@p.E685K 1 0.075 ENSG00000168944 chr5:123382161-123382161;C/T missense_variant False CEP120@p.K363N 1 0.408163265 ENSG00000168944 chr5:123390090-123390090;C/A missense_variant False CEP120@p.L632V 1 0.08 ENSG00000168944 chr5:123382856-123382856;G/C missense_variant False CEP120@p.P394del 1 0.431372549 ENSG00000168944 chr5:123390001-123390003;GGT/- inframe_deletion False CEP120@p.S224F 1 0.352941176 ENSG00000168944 chr5:123393439-123393439;G/A missense_variant False CEP126@p.D1108H 1 0.058823529 ENSG00000110318 chr11:101997611-101997611;G/C missense_variant False CEP126@p.E622Q 1 0.289473684 ENSG00000110318 chr11:101962899-101962899;G/C missense_variant False CEP126@p.E640D 1 0.139784946 ENSG00000110318 chr11:101962955-101962955;A/T missense_variant False CEP162@p.D318N 1 0.740740741 ENSG00000135315 chr6:84194959-84194959;C/T missense_variant False CEP162@p.D56H 1 0.097222222 ENSG00000135315 chr6:84221063-84221063;C/G missense_variant False CEP162@p.D831N 1 0.2265625 ENSG00000135315 chr6:84163165-84163165;C/T missense_variant False CEP250@p.D1275H 1 0.264705882 ENSG00000126001 chr20:35500094-35500094;G/C missense_variant False CEP250@p.E2135Q 1 0.050505051 ENSG00000126001 chr20:35504772-35504772;G/C missense_variant False CEP250@p.E208Q 1 0.172727273 ENSG00000126001 chr20:35467326-35467326;G/C missense_variant False CEP250@p.E2088D 1 0.285714286 ENSG00000126001 chr20:35504633-35504633;G/C missense_variant False CEP250@p.E1887K 1 0.423076923 ENSG00000126001 chr20:35504028-35504028;G/A missense_variant False CEP250@p.E1825K 1 0.264705882 ENSG00000126001 chr20:35503842-35503842;G/A missense_variant False CEP250@p.E1065K 1 0.142857143 ENSG00000126001 chr20:35496602-35496602;G/A missense_variant False CEP250@p.A1147T 1 0.583333333 ENSG00000126001 chr20:35497851-35497851;G/A missense_variant False CEP192@p.Q1798E 1 0.2625 ENSG00000101639 chr18:13072798-13072798;C/G missense_variant False CEP20@p.S169F 1 0.235294118 ENSG00000133393 chr16:15867459-15867459;G/A missense_variant False CEP20@p.S135L 1 0.411764706 ENSG00000133393 chr16:15873535-15873535;G/A missense_variant False CEP19@p.E71Q 1 0.594827586 ENSG00000174007 chr3:196707832-196707832;C/G missense_variant False CEP19@p.D139N 1 0.23255814 ENSG00000174007 chr3:196707628-196707628;C/T missense_variant False CEP192@p.V1352I 1 0.076923077 ENSG00000101639 chr18:13056644-13056644;G/A missense_variant False CEP192@p.S2344N 1 0.258064516 ENSG00000101639 chr18:13105063-13105063;G/A missense_variant False CEP250@p.E2351K 1 0.363636364 ENSG00000126001 chr20:35510040-35510040;G/A missense_variant False CEP250@p.E262K 1 0.454545455 ENSG00000126001 chr20:35467488-35467488;G/A missense_variant False CEP250@p.E300K 1 0.376237624 ENSG00000126001 chr20:35469936-35469936;G/A missense_variant False CEP250@p.E414K 1 0.476190476 ENSG00000126001 chr20:35473404-35473404;G/A missense_variant False CEP250@p.E72Q 1 0.181818182 ENSG00000126001 chr20:35463602-35463602;G/C missense_variant False CEP250@p.Q1541H 1 0.074074074 ENSG00000126001 chr20:35502992-35502992;G/C missense_variant False CEP250@p.Q1702H 1 0.417142857 ENSG00000126001 chr20:35503475-35503475;G/C missense_variant False CEP250@p.Q1802K 1 0.15942029 ENSG00000126001 chr20:35503773-35503773;C/A missense_variant False CEP250@p.W1253C 1 0.769911504 ENSG00000126001 chr20:35498698-35498698;G/T missense_variant False CEP290@p.C118Y 1 0.338983051 ENSG00000198707 chr12:88136731-88136731;C/T missense_variant False CEP290@p.E2235K 1 0.0625 ENSG00000198707 chr12:88058963-88058963;C/T missense_variant False CEP290@p.E618Q 1 0.733333333 ENSG00000198707 chr12:88115155-88115155;C/G missense_variant False CEP290@p.E971K 1 0.571428571 ENSG00000198707 chr12:88102918-88102918;C/T missense_variant False CEP290@p.I897L 1 0.411764706 ENSG00000198707 chr12:88106803-88106803;T/A missense_variant False CEP290@p.K1326N 1 0.552631579 ENSG00000198707 chr12:88089083-88089083;C/A missense_variant False CEP290@p.M1755I 1 0.576271186 ENSG00000198707 chr12:88079191-88079191;C/G missense_variant False CEP290@p.R1135M 1 0.304347826 ENSG00000198707 chr12:88092738-88092738;C/A missense_variant False CEP192@p.S1694L 1 0.41025641 ENSG00000101639 chr18:13069763-13069763;C/T missense_variant False CEP192@p.P2178L 1 0.52238806 ENSG00000101639 chr18:13096283-13096283;C/T missense_variant False CEP162@p.G119R 1 0.230769231 ENSG00000135315 chr6:84215430-84215430;C/T missense_variant False CEP164@p.G1071Efs*38 1 0.240740741 ENSG00000110274 chr11:117396175-117396175;G/- frameshift_variant False CEP170@p.E1460Q 1 0.294117647 ENSG00000143702 chr1:243129395-243129395;C/G missense_variant False CEP170@p.E1352K 1 0.36 ENSG00000143702 chr1:243142321-243142321;C/T missense_variant False CEP170@p.E113K 1 0.411764706 ENSG00000143702 chr1:243200677-243200677;C/T missense_variant False CEP170@p.D1025N 1 0.155172414 ENSG00000143702 chr1:243164887-243164887;C/T missense_variant False CEP164@p.Q716H 1 0.447619048 ENSG00000110274 chr11:117391080-117391080;G/T missense_variant False CEP164@p.H1062Y 1 0.202614379 ENSG00000110274 chr11:117396148-117396148;C/T missense_variant False CEP164@p.E604Q 1 0.128787879 ENSG00000110274 chr11:117387288-117387288;G/C missense_variant False CEP192@p.N777S 1 0.235294118 ENSG00000101639 chr18:13049121-13049121;A/G missense_variant False CEP164@p.D85G 1 0.851851852 ENSG00000110274 chr11:117351849-117351849;A/G missense_variant False CEP164@p.D404N 1 0.298701299 ENSG00000110274 chr11:117373808-117373808;G/A missense_variant False CEP164@p.D1305N 1 0.185628743 ENSG00000110274 chr11:117409782-117409782;G/A missense_variant False CEP162@p.S546F 1 0.289473684 ENSG00000135315 chr6:84185213-84185213;G/A missense_variant False CEP162@p.L1090Tfs*51 1 0.153846154 ENSG00000135315 chr6:84152896-84152906;TCTTCATTGAG/- frameshift_variant False CEP162@p.K259R 1 0.496183206 ENSG00000135315 chr6:84200848-84200848;T/C missense_variant False CEP170@p.E513K 1 0.410071942 ENSG00000143702 chr1:243185808-243185808;C/T missense_variant False CEP170@p.P683L 1 0.375 ENSG00000143702 chr1:243165912-243165912;G/A missense_variant False CEP170@p.Q179Sfs*36 1 0.172413793 ENSG00000143702 chr1:243199157-243199157;C/- frameshift_variant False CEP170@p.R431K 1 0.303030303 ENSG00000143702 chr1:243186053-243186053;C/T missense_variant False CEP170@p.R470K 1 0.231404959 ENSG00000143702 chr1:243185936-243185936;C/T missense_variant False CEP170@p.S1133C 1 0.527272727 ENSG00000143702 chr1:243164562-243164562;G/C missense_variant False CEP170@p.S980L 1 0.407407407 ENSG00000143702 chr1:243165021-243165021;G/A missense_variant False CEP170B@p.E868D 1 0.363636364 ENSG00000099814 chr14:104886840-104886840;G/C missense_variant False CEP170B@p.G940A 1 0.125 ENSG00000099814 chr14:104887055-104887055;G/C missense_variant False CEP170B@p.G940R 1 0.956521739 ENSG00000099814 chr14:104887054-104887054;G/A missense_variant False CEP170B@p.K281N 1 0.384615385 ENSG00000099814 chr14:104883297-104883297;G/C missense_variant False CEP170B@p.L1438P 1 0.434782609 ENSG00000099814 chr14:104893783-104893783;T/C missense_variant False CEP192@p.E1376Q 1 0.28125 ENSG00000101639 chr18:13057602-13057602;G/C missense_variant False CEP192@p.E1979Tfs*11 1 0.194444444 ENSG00000101639 chr18:13087587-13087588;AG/- frameshift_variant False CEP192@p.G2094R 1 0.186046512 ENSG00000101639 chr18:13095528-13095528;G/C missense_variant False CEP192@p.H2377Y 1 0.387755102 ENSG00000101639 chr18:13113667-13113667;C/T missense_variant False CEP192@p.L2112V 1 0.25 ENSG00000101639 chr18:13095582-13095582;C/G missense_variant False CENPT@p.P145A 1 0.266666667 ENSG00000102901 chr16:67831844-67831844;G/C missense_variant False CENPT@p.E131Q 1 0.315789474 ENSG00000102901 chr16:67831886-67831886;C/G missense_variant False CENPT@p.A293V 1 0.458333333 ENSG00000102901 chr16:67830073-67830073;G/A missense_variant False CELSR3@p.S2550Y 1 0.27027027 ENSG00000008300 chr3:48645591-48645591;G/T missense_variant False CEMIP2@p.P40T 1 0.387096774 ENSG00000135048 chr9:71750256-71750256;G/T missense_variant False CEMIP2@p.L1298V 1 0.338983051 ENSG00000135048 chr9:71685806-71685806;A/C missense_variant False CEMIP2@p.E1274Q 1 0.415584416 ENSG00000135048 chr9:71690123-71690123;C/G missense_variant False CEMIP2@p.E1014K 1 0.38028169 ENSG00000135048 chr9:71704749-71704749;C/T missense_variant False CELSR3@p.S739L 1 0.422680412 ENSG00000008300 chr3:48660419-48660419;G/A missense_variant False CELSR3@p.S3200C 1 0.288888889 ENSG00000008300 chr3:48639986-48639986;G/C missense_variant False CELSR3@p.S2382G 1 0.8 ENSG00000008300 chr3:48646914-48646914;T/C missense_variant False CELSR3@p.N311K 1 0.333333333 ENSG00000008300 chr3:48661702-48661702;G/C missense_variant False CELSR3@p.S1016F 1 0.25203252 ENSG00000008300 chr3:48659588-48659588;G/A missense_variant False CELSR3@p.R99P 1 0.098039216 ENSG00000008300 chr3:48662339-48662339;C/G missense_variant False CELSR3@p.R619H 1 0.193548387 ENSG00000008300 chr3:48660779-48660779;C/T missense_variant False CELSR3@p.R2629C 1 0.41025641 ENSG00000008300 chr3:48645122-48645122;G/A missense_variant False CELSR3@p.P326S 1 0.23880597 ENSG00000008300 chr3:48661659-48661659;G/A missense_variant False CELSR3@p.P1902T 1 0.222222222 ENSG00000008300 chr3:48652484-48652484;G/T missense_variant False CEMIP2@p.Q432H 1 0.136363636 ENSG00000135048 chr9:71734903-71734903;C/G missense_variant False CEMIP2@p.S579L 1 0.216216216 ENSG00000135048 chr9:71730742-71730742;G/A missense_variant False CEMIP2@p.S925F 1 0.407894737 ENSG00000135048 chr9:71709470-71709470;G/A missense_variant False CEMIP@p.D1285H 1 0.24 ENSG00000103888 chr15:80943098-80943098;G/C missense_variant False CEMIP@p.D602E 1 0.295081967 ENSG00000103888 chr15:80920102-80920102;C/A missense_variant False CEMIP@p.F518L 1 0.4 ENSG00000103888 chr15:80906805-80906805;C/A missense_variant False CEMIP@p.G479R 1 0.294117647 ENSG00000103888 chr15:80906686-80906686;G/C missense_variant False CEMIP@p.I683M 1 0.142857143 ENSG00000103888 chr15:80921077-80921077;C/G missense_variant False CEMIP@p.L1269V 1 0.129186603 ENSG00000103888 chr15:80943050-80943050;C/G missense_variant False CEMIP@p.M487Rfs*5 1 0.395348837 ENSG00000103888 chr15:80906710-80906719;ATGCGGGCGG/- frameshift_variant False CEMIP@p.Q1007E 1 0.307692308 ENSG00000103888 chr15:80936683-80936683;C/G missense_variant False CEMIP@p.S280F 1 0.326530612 ENSG00000103888 chr15:80887735-80887735;C/T missense_variant False CEMIP@p.S447C 1 0.095238095 ENSG00000103888 chr15:80895989-80895989;C/G missense_variant False CEMP1@p.D7N 1 0.168421053 ENSG00000205923 chr16:2531055-2531055;C/T missense_variant False CEMP1@p.H70N 1 0.146341463 ENSG00000205923 chr16:2530866-2530866;G/T missense_variant False CEMP1@p.V64M 1 0.264705882 ENSG00000205923 chr16:2530884-2530884;C/T missense_variant False CENATAC@p.E59K 1 0.138888889 ENSG00000186166 chr11:118998484-118998484;G/A missense_variant False CELSR3@p.N583S 1 0.307692308 ENSG00000008300 chr3:48660887-48660887;T/C missense_variant False CELSR3@p.M418L 1 0.217391304 ENSG00000008300 chr3:48661383-48661383;T/A missense_variant False CEND1@p.E23Q 1 0.157480315 ENSG00000184524 chr11:788510-788510;C/G missense_variant False CELSR1@p.W967C 1 0.511627907 ENSG00000075275 chr22:46534270-46534270;C/A missense_variant False CELSR2@p.E1867Q 1 0.045751634 ENSG00000143126 chr1:109265002-109265002;G/C missense_variant False CELSR2@p.D207H 1 0.072463768 ENSG00000143126 chr1:109250698-109250698;G/C missense_variant False CELSR2@p.D1898Y 1 0.263157895 ENSG00000143126 chr1:109265276-109265276;G/T missense_variant False CELSR2@p.A2689S 1 0.235294118 ENSG00000143126 chr1:109272650-109272650;G/T missense_variant False CELSR2@p.A2297S 1 0.285714286 ENSG00000143126 chr1:109269500-109269500;G/T missense_variant False CELSR1@p.Y1070Cfs*26 1 0.138888889 ENSG00000075275 chr22:46533961-46533962;AT/- frameshift_variant False CELSR1@p.T795I 1 0.081081081 ENSG00000075275 chr22:46534787-46534787;G/A missense_variant False CELSR3@p.L2411F 1 0.266666667 ENSG00000008300 chr3:48646827-48646827;G/A missense_variant False CELSR1@p.S765F 1 0.217391304 ENSG00000075275 chr22:46534877-46534877;G/A missense_variant False CELSR1@p.S2971F 1 0.603174603 ENSG00000075275 chr22:46364119-46364119;G/A missense_variant False CELSR1@p.S2435C 1 0.307692308 ENSG00000075275 chr22:46378670-46378670;G/C missense_variant False CELSR1@p.P543R 1 0.122807018 ENSG00000075275 chr22:46535543-46535543;G/C missense_variant False CELSR1@p.G2054D 1 0.193548387 ENSG00000075275 chr22:46391275-46391275;C/T missense_variant False CELSR1@p.F1338S 1 0.3125 ENSG00000075275 chr22:46463877-46463877;A/G missense_variant False CELSR2@p.F2396L 1 0.175182482 ENSG00000143126 chr1:109270013-109270013;C/G missense_variant False CELSR2@p.G1707E 1 0.236111111 ENSG00000143126 chr1:109264196-109264196;G/A missense_variant False CELSR2@p.G1752S 1 0.245901639 ENSG00000143126 chr1:109264330-109264330;G/A missense_variant False CELSR2@p.L167V 1 0.459459459 ENSG00000143126 chr1:109250578-109250578;C/G missense_variant False CELSR2@p.P344L 1 0.169811321 ENSG00000143126 chr1:109251110-109251110;C/T missense_variant False CELSR2@p.P344T 1 0.173076923 ENSG00000143126 chr1:109251109-109251109;C/A missense_variant False CELSR2@p.R2344H 1 0.224880383 ENSG00000143126 chr1:109269744-109269744;G/A missense_variant False CELSR2@p.R352H 1 0.413333333 ENSG00000143126 chr1:109251134-109251134;G/A missense_variant False CELSR2@p.S688F 1 0.376146789 ENSG00000143126 chr1:109252142-109252142;C/T missense_variant False CELSR2@p.T2575A 1 0.301204819 ENSG00000143126 chr1:109271432-109271432;A/G missense_variant False CELSR2@p.T422I 1 0.243902439 ENSG00000143126 chr1:109251344-109251344;C/T missense_variant False CELSR3@p.A606S 1 0.275 ENSG00000008300 chr3:48660819-48660819;C/A missense_variant False CELSR3@p.E356Q 1 0.197183099 ENSG00000008300 chr3:48661569-48661569;C/G missense_variant False CELSR3@p.E547K 1 0.362318841 ENSG00000008300 chr3:48660996-48660996;C/T missense_variant False CELSR3@p.E760K 1 0.25 ENSG00000008300 chr3:48660357-48660357;C/T missense_variant False CELSR3@p.G523R 1 0.416666667 ENSG00000008300 chr3:48661068-48661068;C/T missense_variant False CELSR3@p.G667C 1 0.292307692 ENSG00000008300 chr3:48660636-48660636;C/A missense_variant False CENATAC@p.E61K 1 0.25 ENSG00000186166 chr11:118998490-118998490;G/A missense_variant False CEND1@p.G100R 1 0.428571429 ENSG00000184524 chr11:788279-788279;C/T missense_variant False CENPS-CORT@p.E80K 1 0.073684211 ENSG00000251503 chr1:10440375-10440375;G/A missense_variant False CENPI@p.K635N 1 0.096774194 ENSG00000102384 chrX:101147972-101147972;G/C missense_variant False CENPJ@p.K1296E 1 0.403100775 ENSG00000151849 chr13:24883308-24883308;T/C missense_variant False CENPJ@p.H633D 1 0.138888889 ENSG00000151849 chr13:24906141-24906141;G/C missense_variant False CENPJ@p.E646D 1 0.449275362 ENSG00000151849 chr13:24906100-24906100;C/G missense_variant False CENPJ@p.E562Q 1 0.254901961 ENSG00000151849 chr13:24906354-24906354;C/G missense_variant False CENPJ@p.D196N 1 0.443478261 ENSG00000151849 chr13:24910069-24910069;C/T missense_variant False CENPI@p.S143C 1 0.038461538 ENSG00000102384 chrX:101109536-101109536;C/G missense_variant False CENPI@p.H740Y 1 0.75 ENSG00000102384 chrX:101162914-101162914;C/T missense_variant False CENPF@p.R2127H 1 0.407407407 ENSG00000117724 chr1:214645950-214645950;G/A missense_variant False CENPH@p.R47T 1 0.5 ENSG00000153044 chr5:69191800-69191800;G/C missense_variant False CENPH@p.E190K 1 0.225352113 ENSG00000153044 chr5:69208276-69208276;G/A missense_variant False CENPH@p.E135Q 1 0.434782609 ENSG00000153044 chr5:69202537-69202537;G/C missense_variant False CENPF@p.S495C 1 0.385714286 ENSG00000117724 chr1:214637903-214637903;C/G missense_variant False CENPF@p.S2741L 1 0.493975904 ENSG00000117724 chr1:214652889-214652889;C/T missense_variant False CENPF@p.S229L 1 0.645454545 ENSG00000117724 chr1:214620767-214620767;C/T missense_variant False CENPJ@p.M546I 1 0.104477612 ENSG00000151849 chr13:24906400-24906400;C/G missense_variant False CENPJ@p.Q1250H 1 0.416666667 ENSG00000151849 chr13:24884037-24884037;C/G missense_variant False CENPJ@p.Q951H 1 0.263157895 ENSG00000151849 chr13:24899557-24899557;C/G missense_variant False CENPJ@p.R721T 1 0.326732673 ENSG00000151849 chr13:24905876-24905876;C/G missense_variant False CENPJ@p.S589L 1 0.454545455 ENSG00000151849 chr13:24906272-24906272;G/A missense_variant False CENPK@p.E244K 1 0.406779661 ENSG00000123219 chr5:65518555-65518555;C/T missense_variant False CENPK@p.P227S 1 0.191780822 ENSG00000123219 chr5:65518606-65518606;G/A missense_variant False CENPL@p.D2Hfs*17 1 0.139534884 ENSG00000120334 chr1:173811284-173811296;CACTGTAAGAATC/- frameshift_variant False CENPL@p.H298Y 1 0.041666667 ENSG00000120334 chr1:173803034-173803034;G/A missense_variant False CENPL@p.S175L 1 0.177419355 ENSG00000120334 chr1:173803402-173803402;G/A missense_variant False CENPN@p.E125Q 1 0.479452055 ENSG00000166451 chr16:81020118-81020118;G/C missense_variant False CENPN@p.R44K 1 0.113402062 ENSG00000166451 chr16:81012070-81012070;G/A missense_variant False CENPO@p.P160R 1 0.193548387 ENSG00000138092 chr2:24815641-24815641;C/G missense_variant False CENPP@p.C283S 1 0.070422535 ENSG00000188312 chr9:92613130-92613130;G/C missense_variant False CENPP@p.E48Q 1 0.583333333 ENSG00000188312 chr9:92332204-92332204;G/C missense_variant False CENPP@p.K100T 1 0.06 ENSG00000188312 chr9:92337550-92337550;A/C missense_variant False CENPQ@p.K129N 1 0.333333333 ENSG00000031691 chr6:49480990-49480990;A/T missense_variant False CENPF@p.R884H 1 0.242105263 ENSG00000117724 chr1:214640989-214640989;G/A missense_variant False CENPF@p.Q1047Rfs*7 1 0.172413793 ENSG00000117724 chr1:214641477-214641477;C/- frameshift_variant False CEND1@p.S40L 1 0.51 ENSG00000184524 chr11:788458-788458;G/A missense_variant False CENPB@p.S162L 1 0.666666667 ENSG00000125817 chr20:3785999-3785999;G/A missense_variant False CENPE@p.D685N 1 0.269230769 ENSG00000138778 chr4:103161164-103161164;C/T missense_variant False CENPE@p.D668N 1 0.26984127 ENSG00000138778 chr4:103161215-103161215;C/T missense_variant False CENPE@p.D122H 1 0.115942029 ENSG00000138778 chr4:103195227-103195227;C/G missense_variant False CENPE@p.A1240V 1 0.265306122 ENSG00000138778 chr4:103148968-103148968;G/A missense_variant False CENPC@p.H606D 1 0.140625 ENSG00000145241 chr4:67508902-67508902;G/C missense_variant False CENPB@p.S188L 1 0.263888889 ENSG00000125817 chr20:3785921-3785921;G/A missense_variant False CENPB@p.Q598E 1 0.396226415 ENSG00000125817 chr20:3784692-3784692;G/C missense_variant False CENPF@p.M1804I 1 0.148148148 ENSG00000117724 chr1:214644982-214644982;G/A missense_variant False CENPB@p.G216E 1 0.213017751 ENSG00000125817 chr20:3785837-3785837;C/T missense_variant False CENPB@p.F85L 1 0.168316832 ENSG00000125817 chr20:3786229-3786229;G/C missense_variant False CENPB@p.E56Q 1 0.081632653 ENSG00000125817 chr20:3786318-3786318;C/G missense_variant False CENPB@p.E465K 1 0.207317073 ENSG00000125817 chr20:3785091-3785091;C/T missense_variant False CENPB@p.E184Q 1 0.1 ENSG00000125817 chr20:3785934-3785934;C/G missense_variant False CENPA@p.R131M 1 0.101449275 ENSG00000115163 chr2:26793248-26793248;G/T missense_variant False CENPE@p.E1022K 1 0.814814815 ENSG00000138778 chr4:103153220-103153220;C/T missense_variant False CENPE@p.E1040Q 1 0.4 ENSG00000138778 chr4:103153166-103153166;C/G missense_variant False CENPE@p.E2109Q 1 0.159090909 ENSG00000138778 chr4:103136338-103136338;C/G missense_variant False CENPE@p.E2316Q 1 0.50617284 ENSG00000138778 chr4:103123068-103123068;C/G missense_variant False CENPE@p.E2456K 1 0.2 ENSG00000138778 chr4:103116653-103116653;C/T missense_variant False CENPE@p.E618K 1 0.431034483 ENSG00000138778 chr4:103161448-103161448;C/T missense_variant False CENPE@p.F822V 1 0.512820513 ENSG00000138778 chr4:103159147-103159147;A/C missense_variant False CENPE@p.S2557Y 1 0.348484848 ENSG00000138778 chr4:103110882-103110882;G/T missense_variant False CENPE@p.T1399A 1 0.49122807 ENSG00000138778 chr4:103146047-103146047;T/C missense_variant False CENPE@p.V1403M 1 0.161290323 ENSG00000138778 chr4:103146035-103146035;C/T missense_variant False CENPF@p.D562H 1 0.207070707 ENSG00000117724 chr1:214640022-214640022;G/C missense_variant False CENPF@p.E1270K 1 0.06097561 ENSG00000117724 chr1:214642146-214642146;G/A missense_variant False CENPF@p.E2666Q 1 0.686567164 ENSG00000117724 chr1:214651722-214651722;G/C missense_variant False CENPF@p.E2737Q 1 0.246575342 ENSG00000117724 chr1:214652876-214652876;G/C missense_variant False CENPF@p.E2838K 1 0.203389831 ENSG00000117724 chr1:214656959-214656959;G/A missense_variant False CENPF@p.G2224S 1 0.25 ENSG00000117724 chr1:214646240-214646240;G/A missense_variant False CENPF@p.L2357V 1 0.352941176 ENSG00000117724 chr1:214646639-214646639;C/G missense_variant False CEP290@p.S2037L 1 0.433333333 ENSG00000198707 chr12:88068547-88068547;G/A missense_variant False CEP350@p.D2832N 1 0.333333333 ENSG00000135837 chr1:180094599-180094599;G/A missense_variant False CELSR1@p.E698K 1 0.129032258 ENSG00000075275 chr22:46535079-46535079;C/T missense_variant False CFAP251@p.E94Q 1 0.402777778 ENSG00000158023 chr12:121921585-121921585;G/C missense_variant False CFAP251@p.S531C 1 0.308510638 ENSG00000158023 chr12:121957130-121957130;C/G missense_variant False CFAP251@p.S463L 1 0.324561404 ENSG00000158023 chr12:121954187-121954187;C/T missense_variant False CFAP251@p.Q968E 1 0.272727273 ENSG00000158023 chr12:121975581-121975581;C/G missense_variant False CFAP251@p.L1136I 1 0.103448276 ENSG00000158023 chr12:122003720-122003720;C/A missense_variant False CFAP251@p.F668V 1 0.15 ENSG00000158023 chr12:121958963-121958963;T/G missense_variant False CFAP251@p.F1012C 1 0.52 ENSG00000158023 chr12:121999744-121999744;T/G missense_variant False CFAP251@p.E647Q 1 0.27826087 ENSG00000158023 chr12:121958480-121958480;G/C missense_variant False CFAP298-TCP10L@p.I217V 1 0.103773585 ENSG00000265590 chr21:32603178-32603178;T/C missense_variant False CFAP251@p.E49K 1 0.509803922 ENSG00000158023 chr12:121921450-121921450;G/A missense_variant False CFAP251@p.E1142K 1 0.211267606 ENSG00000158023 chr12:122003738-122003738;G/A missense_variant False CFAP221@p.Y688H 1 0.867924528 ENSG00000163075 chr2:119638346-119638346;T/C missense_variant False CFAP221@p.Q810E 1 0.24137931 ENSG00000163075 chr2:119656375-119656375;C/G missense_variant False CFAP221@p.E815Q 1 0.208333333 ENSG00000163075 chr2:119656390-119656390;G/C missense_variant False CFAP221@p.D809H 1 0.222222222 ENSG00000163075 chr2:119656372-119656372;G/C missense_variant False CFAP298-TCP10L@p.D309G 1 0.196969697 ENSG00000265590 chr21:32578788-32578788;T/C missense_variant False CFAP298-TCP10L@p.S124P 1 0.233333333 ENSG00000265590 chr21:32607654-32607654;A/G missense_variant False CEP350@p.E1838K 1 0.363636364 ENSG00000135837 chr1:180065217-180065217;G/A missense_variant False CFAP36@p.N200S 1 0.053435115 ENSG00000163001 chr2:55537544-55537544;A/G missense_variant False CFAP43@p.E1363K 1 0.287234043 ENSG00000197748 chr10:104143497-104143497;C/T missense_variant False CFAP43@p.E1202K 1 0.134615385 ENSG00000197748 chr10:104152663-104152663;C/T missense_variant False CFAP43@p.D989H 1 0.473684211 ENSG00000197748 chr10:104166562-104166562;C/G missense_variant False CFAP43@p.D1122G 1 0.428571429 ENSG00000197748 chr10:104162010-104162010;T/C missense_variant False CFAP43@p.A2T 1 0.181818182 ENSG00000197748 chr10:104232243-104232243;C/T missense_variant False CFAP410@p.E179Q 1 0.235294118 ENSG00000160226 chr21:44331853-44331853;C/G missense_variant False CFAP36@p.I16M 1 0.121212121 ENSG00000163001 chr2:55519849-55519849;C/G missense_variant False CFAP298-TCP10L@p.S175L 1 0.214285714 ENSG00000265590 chr21:32604135-32604135;G/A missense_variant False CFAP36@p.H54Y 1 0.344262295 ENSG00000163001 chr2:55522146-55522146;C/T missense_variant False CFAP300@p.E97K 1 0.093023256 ENSG00000137691 chr11:102066505-102066505;G/A missense_variant False CFAP299@p.R150Kfs*17 1 0.212121212 ENSG00000197826 chr4:80870099-80870100;-/A frameshift_variant False CFAP299@p.E39K 1 0.173076923 ENSG00000197826 chr4:80362757-80362757;G/A missense_variant False CFAP299@p.D131Y 1 0.402439024 ENSG00000197826 chr4:80870050-80870050;G/T missense_variant False CFAP298@p.I234L 1 0.407407407 ENSG00000159079 chr21:32602334-32602334;T/G missense_variant False CFAP20DC@p.S273C 1 0.558823529 ENSG00000163689 chr3:58870207-58870207;G/C missense_variant False CFAP20DC@p.R244K 1 0.416666667 ENSG00000163689 chr3:58870294-58870294;C/T missense_variant False CFAP20DC@p.L799V 1 0.171428571 ENSG00000163689 chr3:58742510-58742510;G/C missense_variant False CES4A@p.S151L 1 0.296296296 ENSG00000172824 chr16:67000906-67000906;C/T missense_variant False CETN2@p.K167T 1 0.9 ENSG00000147400 chrX:152827860-152827860;T/G missense_variant False CETN2@p.E132D 1 0.434782609 ENSG00000147400 chrX:152828570-152828570;C/A missense_variant False CETN2@p.D114Y 1 0.052631579 ENSG00000147400 chrX:152828626-152828626;C/A missense_variant False CETN1@p.R58K 1 0.162162162 ENSG00000177143 chr18:580581-580581;G/A missense_variant False CES5A@p.P91R 1 0.065217391 ENSG00000159398 chr16:55873839-55873839;G/C missense_variant False CES4A@p.S237L 1 0.2 ENSG00000172824 chr16:67003089-67003089;C/T missense_variant False CES3@p.G318V 1 0.1953125 ENSG00000172828 chr16:66966756-66966756;G/T missense_variant False CFAP20DC@p.L441I 1 0.172839506 ENSG00000163689 chr3:58863830-58863830;G/T missense_variant False CES3@p.G318D 1 0.099009901 ENSG00000172828 chr16:66966756-66966756;G/A missense_variant False CES3@p.E386Q 1 0.413043478 ENSG00000172828 chr16:66971184-66971184;G/C missense_variant False CES3@p.D265N 1 0.45 ENSG00000172828 chr16:66964701-66964701;G/A missense_variant False CES2@p.S118F 1 0.262773723 ENSG00000172831 chr16:66939288-66939288;C/T missense_variant False CES2@p.L372V 1 0.077777778 ENSG00000172831 chr16:66941825-66941825;C/G missense_variant False CES2@p.L21V 1 0.255555556 ENSG00000172831 chr16:66935696-66935696;C/G missense_variant False CETN3@p.D113Y 1 0.263157895 ENSG00000153140 chr5:90399481-90399481;C/A missense_variant False CETN3@p.K68N 1 0.515789474 ENSG00000153140 chr5:90405749-90405749;C/G missense_variant False CFAP100@p.A567Pfs*3 1 0.333333333 ENSG00000163885 chr3:126435623-126435624;GC/- frameshift_variant False CFAP100@p.E227Q 1 0.333333333 ENSG00000163885 chr3:126419104-126419104;G/C missense_variant False CFAP100@p.E33D 1 0.387096774 ENSG00000163885 chr3:126407221-126407221;G/T missense_variant False CFAP100@p.E533D 1 0.296875 ENSG00000163885 chr3:126434352-126434352;G/C missense_variant False CFAP100@p.R103W 1 0.097826087 ENSG00000163885 chr3:126416397-126416397;C/T missense_variant False CFAP157@p.E120K 1 0.342857143 ENSG00000160401 chr9:127709618-127709618;G/A missense_variant False CFAP161@p.I99T 1 0.269230769 ENSG00000156206 chr15:81136652-81136652;T/C missense_variant False CFAP161@p.K35E 1 0.41509434 ENSG00000156206 chr15:81135303-81135303;A/G missense_variant False CFAP161@p.P285R 1 0.144927536 ENSG00000156206 chr15:81148481-81148481;C/G missense_variant False CFAP161@p.S277Y 1 0.337349398 ENSG00000156206 chr15:81148457-81148457;C/A missense_variant False CFAP206@p.E245K 1 0.333333333 ENSG00000272514 chr6:87418309-87418309;G/A missense_variant False CFAP206@p.K311N 1 0.271186441 ENSG00000272514 chr6:87426618-87426618;G/C missense_variant False CFAP20DC@p.E303K 1 0.513888889 ENSG00000163689 chr3:58869436-58869436;C/T missense_variant False CFAP20DC@p.E460Q 1 0.322033898 ENSG00000163689 chr3:58863773-58863773;C/G missense_variant False CFAP20DC@p.G444S 1 0.913043478 ENSG00000163689 chr3:58863821-58863821;C/T missense_variant False CFAP43@p.E338K 1 0.342105263 ENSG00000197748 chr10:104203755-104203755;C/T missense_variant False CFAP43@p.E552K 1 0.268656716 ENSG00000197748 chr10:104188303-104188303;C/T missense_variant False CFAP43@p.E916K 1 0.494252874 ENSG00000197748 chr10:104167683-104167683;C/T missense_variant False CFAP53@p.L309F 1 0.206128134 ENSG00000172361 chr18:50250827-50250827;C/A missense_variant False CFAP54@p.S1774L 1 0.344262295 ENSG00000188596 chr12:96658102-96658102;C/T missense_variant False CFAP54@p.S1765F 1 0.212903226 ENSG00000188596 chr12:96658075-96658075;C/T missense_variant False CFAP54@p.Q1769E 1 0.155172414 ENSG00000188596 chr12:96658086-96658086;C/G missense_variant False CFAP54@p.E2300Q 1 0.333333333 ENSG00000188596 chr12:96720498-96720498;G/C missense_variant False CFAP54@p.A2188V 1 0.448979592 ENSG00000188596 chr12:96708642-96708642;C/T missense_variant False CFAP53@p.L62F 1 0.149606299 ENSG00000172361 chr18:50262103-50262103;C/G missense_variant False CFAP53@p.E465Q 1 0.328125 ENSG00000172361 chr18:50227533-50227533;C/G missense_variant False CFAP47@p.H1509D 1 0.217391304 ENSG00000165164 chrX:36073198-36073198;C/G missense_variant False CFAP52@p.E172K 1 0.155778894 ENSG00000166596 chr17:9594299-9594299;G/A missense_variant False CFAP52@p.D35N 1 0.1875 ENSG00000166596 chr17:9585805-9585805;G/A missense_variant False CFAP52@p.A154S 1 0.06 ENSG00000166596 chr17:9594245-9594245;G/T missense_variant False CFAP47@p.S1809C 1 0.346153846 ENSG00000165164 chrX:36138355-36138355;C/G missense_variant False CFAP47@p.R698T 1 0.576923077 ENSG00000165164 chrX:35971708-35971708;G/C missense_variant False CFAP47@p.P478A 1 0.590909091 ENSG00000165164 chrX:35966586-35966586;C/G missense_variant False CFAP54@p.S1986L 1 0.174418605 ENSG00000188596 chr12:96685181-96685181;C/T missense_variant False CFAP54@p.V1764L 1 0.607142857 ENSG00000188596 chr12:96658071-96658071;G/C missense_variant False CFAP57@p.C474R 1 0.28 ENSG00000243710 chr1:43198638-43198638;T/C missense_variant False CFAP57@p.K553T 1 0.091954023 ENSG00000243710 chr1:43206835-43206835;A/C missense_variant False CFAP57@p.L201V 1 0.348148148 ENSG00000243710 chr1:43183717-43183717;C/G missense_variant False CFAP57@p.Q45H 1 0.173913043 ENSG00000243710 chr1:43172888-43172888;G/C missense_variant False CFAP58@p.D426V 1 0.209302326 ENSG00000120051 chr10:104380132-104380132;A/T missense_variant False CFAP58@p.G861S 1 0.263888889 ENSG00000120051 chr10:104454492-104454492;G/A missense_variant False CFAP58@p.G862V 1 0.142857143 ENSG00000120051 chr10:104454496-104454496;G/T missense_variant False CFAP58@p.L225V 1 0.119047619 ENSG00000120051 chr10:104365889-104365889;C/G missense_variant False CFAP58@p.N489H 1 0.365591398 ENSG00000120051 chr10:104392332-104392332;A/C missense_variant False CFAP58@p.Q429K 1 0.191780822 ENSG00000120051 chr10:104380140-104380140;C/A missense_variant False CFAP58@p.R587Q 1 0.41025641 ENSG00000120051 chr10:104399445-104399445;G/A missense_variant False CFAP58@p.R653T 1 0.197530864 ENSG00000120051 chr10:104400822-104400822;G/C missense_variant False CFAP61@p.D1138N 1 0.128571429 ENSG00000089101 chr20:20298376-20298376;G/A missense_variant False CFAP61@p.D92Y 1 0.183246073 ENSG00000089101 chr20:20070984-20070984;G/T missense_variant False CFAP61@p.E1001Q 1 0.394736842 ENSG00000089101 chr20:20288813-20288813;G/C missense_variant False CFAP47@p.K631N 1 1.0 ENSG00000165164 chrX:35970846-35970846;G/T missense_variant False CFAP47@p.G404S 1 0.232323232 ENSG00000165164 chrX:35955996-35955996;G/A missense_variant False CFAP43@p.E933K 1 0.310344828 ENSG00000197748 chr10:104167632-104167632;C/T missense_variant False CFAP43@p.V458I 1 0.146666667 ENSG00000197748 chr10:104193936-104193936;C/T missense_variant False CFAP44@p.L243V 1 0.251968504 ENSG00000206530 chr3:113409269-113409269;G/C missense_variant False CFAP44@p.G859E 1 0.180722892 ENSG00000206530 chr3:113366178-113366178;C/T missense_variant False CFAP44@p.G513E 1 0.302158273 ENSG00000206530 chr3:113399937-113399937;C/T missense_variant False CFAP44@p.G446R 1 0.435483871 ENSG00000206530 chr3:113401278-113401278;C/T missense_variant False CFAP44@p.E228K 1 0.136363636 ENSG00000206530 chr3:113409314-113409314;C/T missense_variant False CFAP43@p.V93A 1 0.323170732 ENSG00000197748 chr10:104230631-104230631;A/G missense_variant False CFAP43@p.R1267I 1 0.265306122 ENSG00000197748 chr10:104146318-104146318;C/A missense_variant False CFAP47@p.F1544V 1 0.285714286 ENSG00000165164 chrX:36073303-36073303;T/G missense_variant False CFAP43@p.R1118Q 1 0.549586777 ENSG00000197748 chr10:104162022-104162022;C/T missense_variant False CFAP43@p.Q1499H 1 0.363636364 ENSG00000197748 chr10:104133719-104133719;C/G missense_variant False CFAP43@p.M1123I 1 0.12145749 ENSG00000197748 chr10:104162006-104162006;C/T missense_variant False CFAP43@p.L725V 1 0.16 ENSG00000197748 chr10:104182482-104182482;G/C missense_variant False CFAP43@p.L1136F 1 0.028248588 ENSG00000197748 chr10:104161967-104161967;C/G missense_variant False CFAP43@p.I612M 1 0.296296296 ENSG00000197748 chr10:104187344-104187344;G/C missense_variant False CFAP44@p.P627A 1 0.222222222 ENSG00000206530 chr3:113395761-113395761;G/C missense_variant False CFAP44@p.S272F 1 0.090614887 ENSG00000206530 chr3:113409181-113409181;G/A missense_variant False CFAP44@p.S749C 1 0.515625 ENSG00000206530 chr3:113379358-113379358;G/C missense_variant False CFAP44@p.Y497C 1 0.07 ENSG00000206530 chr3:113399985-113399985;T/C missense_variant False CFAP45@p.E291D 1 0.074285714 ENSG00000213085 chr1:159884460-159884460;T/A missense_variant False CFAP45@p.E426K 1 0.5 ENSG00000213085 chr1:159876632-159876632;C/T missense_variant False CFAP45@p.E484K 1 0.231343284 ENSG00000213085 chr1:159873071-159873071;C/T missense_variant False CFAP45@p.P97S 1 0.348484848 ENSG00000213085 chr1:159888480-159888480;G/A missense_variant False CFAP45@p.Q178H 1 0.485849057 ENSG00000213085 chr1:159887895-159887895;C/G missense_variant False CFAP46@p.E2322Q 1 0.043269231 ENSG00000171811 chr10:132833511-132833511;C/G missense_variant False CFAP46@p.G147A 1 0.147286822 ENSG00000171811 chr10:132938685-132938685;C/G missense_variant False CFAP46@p.K235N 1 0.238095238 ENSG00000171811 chr10:132937011-132937011;C/G missense_variant False CFAP46@p.P2190L 1 0.212121212 ENSG00000171811 chr10:132836186-132836186;G/A missense_variant False CFAP46@p.P2321A 1 0.5 ENSG00000171811 chr10:132833514-132833514;G/C missense_variant False CFAP46@p.Q2320H 1 0.507692308 ENSG00000171811 chr10:132833515-132833515;C/A missense_variant False CFAP46@p.R2538K 1 0.344444444 ENSG00000171811 chr10:132810460-132810460;C/T missense_variant False CFAP47@p.E460K 1 0.701754386 ENSG00000165164 chrX:35956164-35956164;G/A missense_variant False CES2@p.E460K 1 0.1875 ENSG00000172831 chr16:66942743-66942743;G/A missense_variant False CES1@p.L335H 1 0.192307692 ENSG00000198848 chr16:55812982-55812982;A/T missense_variant False CES1@p.E220D 1 0.104166667 ENSG00000198848 chr16:55821398-55821398;C/A missense_variant False CEP63@p.L316V 1 0.152542373 ENSG00000182923 chr3:134547351-134547351;C/G missense_variant False CEP68@p.H430Q 1 0.194805195 ENSG00000011523 chr2:65072386-65072386;C/A missense_variant False CEP68@p.E93K 1 0.102803738 ENSG00000011523 chr2:65069721-65069721;G/A missense_variant False CEP63@p.S494L 1 0.324503311 ENSG00000182923 chr3:134558155-134558155;C/T missense_variant False CEP63@p.S153L 1 0.219512195 ENSG00000182923 chr3:134537171-134537171;C/T missense_variant False CEP63@p.N630D 1 0.247058824 ENSG00000182923 chr3:134559364-134559364;A/G missense_variant False CEP63@p.L617V 1 0.050847458 ENSG00000182923 chr3:134559325-134559325;C/G missense_variant False CEP63@p.E572K 1 0.336842105 ENSG00000182923 chr3:134559190-134559190;G/A missense_variant False CEP55@p.R138L 1 0.105263158 ENSG00000138180 chr10:93503342-93503342;G/T missense_variant False CEP63@p.A585V 1 0.473333333 ENSG00000182923 chr3:134559230-134559230;C/T missense_variant False CEP57L1@p.I230M 1 0.272727273 ENSG00000183137 chr6:109155823-109155823;A/G missense_variant False CEP57L1@p.H354Y 1 0.363636364 ENSG00000183137 chr6:109160615-109160615;C/T missense_variant False CEP57@p.N323S 1 0.227722772 ENSG00000166037 chr11:95827868-95827868;A/G missense_variant False CEP57@p.I102T 1 0.363636364 ENSG00000166037 chr11:95813034-95813034;T/C missense_variant False CEP57@p.A278V 1 0.088607595 ENSG00000166037 chr11:95822524-95822524;C/T missense_variant False CEP68@p.L732V 1 0.468253968 ENSG00000011523 chr2:65082625-65082625;C/G missense_variant False CEP68@p.Q192E 1 0.136363636 ENSG00000011523 chr2:65071670-65071670;C/G missense_variant False CEP68@p.S226Y 1 0.244186047 ENSG00000011523 chr2:65071773-65071773;C/A missense_variant False CEP68@p.S227F 1 0.111111111 ENSG00000011523 chr2:65071776-65071776;C/T missense_variant False CEP68@p.T141A 1 0.405063291 ENSG00000011523 chr2:65071517-65071517;A/G missense_variant False CEP70@p.E86K 1 0.139240506 ENSG00000114107 chr3:138571062-138571062;C/T missense_variant False CEP70@p.S269A 1 0.5 ENSG00000114107 chr3:138529263-138529263;A/C missense_variant False CEP72@p.K267N 1 0.12962963 ENSG00000112877 chr5:635481-635481;G/C missense_variant False CEP72@p.L516F 1 0.357541899 ENSG00000112877 chr5:644307-644307;G/C missense_variant False CEP72@p.S311C 1 0.202247191 ENSG00000112877 chr5:637544-637544;C/G missense_variant False CEP76@p.A340G 1 0.386554622 ENSG00000101624 chr18:12686365-12686365;G/C missense_variant False CEP76@p.S149C 1 0.309090909 ENSG00000101624 chr18:12699053-12699053;G/C missense_variant False CEP76@p.S425T 1 0.070175439 ENSG00000101624 chr18:12680677-12680677;C/G missense_variant False CEP76@p.V397L 1 0.138888889 ENSG00000101624 chr18:12680762-12680762;C/G missense_variant False CEP78@p.E670Q 1 0.285714286 ENSG00000148019 chr9:78266652-78266652;G/C missense_variant False CEP78@p.L155V 1 0.12195122 ENSG00000148019 chr9:78240328-78240328;C/G missense_variant False CEP78@p.L613V 1 0.111111111 ENSG00000148019 chr9:78266481-78266481;C/G missense_variant False CEP55@p.Y336H 1 0.615384615 ENSG00000138180 chr10:93518889-93518889;T/C missense_variant False CEP55@p.K221E 1 0.208791209 ENSG00000138180 chr10:93515537-93515537;A/G missense_variant False CEP83@p.D621H 1 0.564705882 ENSG00000173588 chr12:94310058-94310058;C/G missense_variant False CEP350@p.K1568N 1 0.585365854 ENSG00000135837 chr1:180048617-180048617;G/C missense_variant False CEP350@p.R1141K 1 0.403846154 ENSG00000135837 chr1:180024454-180024454;G/A missense_variant False CEP350@p.R1086T 1 0.161290323 ENSG00000135837 chr1:180022719-180022719;G/C missense_variant False CEP350@p.Q1360E 1 0.785714286 ENSG00000135837 chr1:180037057-180037057;C/G missense_variant False CEP350@p.M167I 1 0.542857143 ENSG00000135837 chr1:179996658-179996658;G/A missense_variant False CEP350@p.L975V 1 0.131147541 ENSG00000135837 chr1:180020697-180020697;C/G missense_variant False CEP350@p.L763F 1 0.090361446 ENSG00000135837 chr1:180020063-180020063;G/C missense_variant False CEP350@p.K1175N 1 0.259259259 ENSG00000135837 chr1:180024557-180024557;G/C missense_variant False CEP55@p.H168D 1 0.21875 ENSG00000138180 chr10:93507030-93507030;C/G missense_variant False CEP350@p.G1020A 1 0.085106383 ENSG00000135837 chr1:180020833-180020833;G/C missense_variant False CEP350@p.E984K 1 0.0472103 ENSG00000135837 chr1:180020724-180020724;G/A missense_variant False CEP350@p.E3081K 1 0.257142857 ENSG00000135837 chr1:180111048-180111048;G/A missense_variant False CEP350@p.E2893Q 1 0.361111111 ENSG00000135837 chr1:180095688-180095688;G/C missense_variant False CEP350@p.E2820K 1 0.139534884 ENSG00000135837 chr1:180094563-180094563;G/A missense_variant False CEP350@p.E2682Q 1 0.636363636 ENSG00000135837 chr1:180094149-180094149;G/C missense_variant False CEP350@p.R2631T 1 0.578947368 ENSG00000135837 chr1:180093997-180093997;G/C missense_variant False CEP350@p.S2035L 1 0.285714286 ENSG00000135837 chr1:180080641-180080641;C/T missense_variant False CEP350@p.S257F 1 0.258064516 ENSG00000135837 chr1:179996927-179996927;C/T missense_variant False CEP350@p.S695C 1 0.433333333 ENSG00000135837 chr1:180015880-180015880;C/G missense_variant False CEP350@p.S777C 1 0.104 ENSG00000135837 chr1:180020104-180020104;C/G missense_variant False CEP41@p.E316K 1 0.23566879 ENSG00000106477 chr7:130400066-130400066;C/T missense_variant False CEP41@p.E336Q 1 0.292929293 ENSG00000106477 chr7:130399007-130399007;C/G missense_variant False CEP41@p.I26M 1 0.347826087 ENSG00000106477 chr7:130427974-130427974;G/C missense_variant False CEP41@p.K309N 1 0.425641026 ENSG00000106477 chr7:130400085-130400085;C/G missense_variant False CEP43@p.E247K 1 0.311111111 ENSG00000272980 chr6:167022568-167022568;G/A missense_variant False CEP44@p.E359K 1 0.434782609 ENSG00000164118 chr4:174316279-174316279;G/A missense_variant False CEP44@p.E381Q 1 0.107142857 ENSG00000164118 chr4:174317351-174317351;G/C missense_variant False CEP44@p.S253L 1 0.55 ENSG00000164118 chr4:174309929-174309929;C/T missense_variant False CEP55@p.D188N 1 0.244680851 ENSG00000138180 chr10:93515438-93515438;G/A missense_variant False CEP55@p.D312N 1 0.2375 ENSG00000138180 chr10:93517189-93517189;G/A missense_variant False CEP55@p.E232D 1 0.397058824 ENSG00000138180 chr10:93516951-93516951;G/T missense_variant False CEP55@p.E417K 1 0.317073171 ENSG00000138180 chr10:93528007-93528007;G/A missense_variant False CEP78@p.S679C 1 0.230769231 ENSG00000148019 chr9:78266680-78266680;C/G missense_variant False CEP83@p.E55K 1 0.21686747 ENSG00000173588 chr12:94412328-94412328;C/T missense_variant False CES1@p.D193E 1 0.182926829 ENSG00000198848 chr16:55821479-55821479;G/C missense_variant False CERK@p.E61K 1 0.4375 ENSG00000100422 chr22:46720977-46720977;C/T missense_variant False CERKL@p.P434L 1 0.053333333 ENSG00000188452 chr2:181547663-181547663;G/A missense_variant False CERKL@p.M206T 1 0.85915493 ENSG00000188452 chr2:181566118-181566118;A/G missense_variant False CERKL@p.K180N 1 0.372881356 ENSG00000188452 chr2:181573826-181573826;T/A missense_variant False CERKL@p.F484I 1 0.483333333 ENSG00000188452 chr2:181539258-181539258;A/T missense_variant False CERKL@p.E512K 1 0.138888889 ENSG00000188452 chr2:181539174-181539174;C/T missense_variant False CERKL@p.A358V 1 0.4 ENSG00000188452 chr2:181548758-181548758;G/A missense_variant False CERK@p.E362K 1 0.11627907 ENSG00000100422 chr22:46693469-46693469;C/T missense_variant False CER1@p.S202Y 1 0.202614379 ENSG00000147869 chr9:14720289-14720289;G/T missense_variant False CERK@p.E182Q 1 0.148148148 ENSG00000100422 chr22:46711111-46711111;C/G missense_variant False CERCAM@p.S552Y 1 0.157894737 ENSG00000167123 chr9:128435772-128435772;C/A missense_variant False CERCAM@p.S215F 1 0.191489362 ENSG00000167123 chr9:128424492-128424492;C/T missense_variant False CERCAM@p.Q450P 1 0.078125 ENSG00000167123 chr9:128434427-128434427;A/C missense_variant False CERCAM@p.L150P 1 0.333333333 ENSG00000167123 chr9:128424160-128424160;T/C missense_variant False CERCAM@p.H306Y 1 0.207317073 ENSG00000167123 chr9:128428786-128428786;C/T missense_variant False CERKL@p.R272T 1 0.213333333 ENSG00000188452 chr2:181558649-181558649;C/G missense_variant False CERS1@p.E101D 1 0.4375 ENSG00000223802 chr19:18893522-18893522;C/G missense_variant False CERS2@p.S37L 1 0.182795699 ENSG00000143418 chr1:150968981-150968981;G/A missense_variant False CERS3@p.H294Y 1 0.296296296 ENSG00000154227 chr15:100456012-100456012;G/A missense_variant False CERS4@p.M331L 1 0.183333333 ENSG00000090661 chr19:8261830-8261830;A/T missense_variant False CERS4@p.Q73E 1 0.25 ENSG00000090661 chr19:8254542-8254542;C/G missense_variant False CERS5@p.R129W 1 0.286036036 ENSG00000139624 chr12:50143123-50143123;G/A missense_variant False CERS5@p.R379W 1 0.346153846 ENSG00000139624 chr12:50130589-50130589;G/A missense_variant False CERS6@p.A362V 1 0.444444444 ENSG00000172292 chr2:168769592-168769592;C/T missense_variant False CERS6@p.D37Y 1 0.231578947 ENSG00000172292 chr2:168456557-168456557;G/T missense_variant False CERS6@p.F55L 1 0.341463415 ENSG00000172292 chr2:168456613-168456613;C/G missense_variant False CERS6@p.Y223_V224del 1 0.368231047 ENSG00000172292 chr2:168715057-168715062;ATATGT/- inframe_deletion False CERT1@p.D341G 1 0.55 ENSG00000113163 chr5:75419382-75419382;T/C missense_variant False CERT1@p.E729Q 1 0.416666667 ENSG00000113163 chr5:75379420-75379420;C/G missense_variant False CERT1@p.M555V 1 0.387755102 ENSG00000113163 chr5:75389597-75389597;T/C missense_variant False CERT1@p.R257Q 1 0.805555556 ENSG00000113163 chr5:75426441-75426441;C/T missense_variant False CERT1@p.S318C 1 0.063291139 ENSG00000113163 chr5:75425387-75425387;G/C missense_variant False CERCAM@p.D523N 1 0.212121212 ENSG00000167123 chr9:128435684-128435684;G/A missense_variant False CER1@p.E51K 1 0.164948454 ENSG00000147869 chr9:14722522-14722522;C/T missense_variant False CEP83@p.E610K 1 0.315068493 ENSG00000173588 chr12:94310091-94310091;C/T missense_variant False CEP85@p.S419F 1 0.16091954 ENSG00000130695 chr1:26259717-26259717;C/T missense_variant False CEP89@p.H602Y 1 0.493150685 ENSG00000121289 chr19:32899928-32899928;G/A missense_variant False CEP89@p.D316H 1 0.315789474 ENSG00000121289 chr19:32931512-32931512;C/G missense_variant False CEP85L@p.W156R 1 0.085714286 ENSG00000111860 chr6:118566083-118566083;A/T missense_variant False CEP85L@p.S765N 1 0.065217391 ENSG00000111860 chr6:118465529-118465529;C/T missense_variant False CEP85L@p.Q652E 1 0.051094891 ENSG00000111860 chr6:118470605-118470605;G/C missense_variant False CEP85L@p.G344A 1 0.2 ENSG00000111860 chr6:118523910-118523910;C/G missense_variant False CEP85@p.R481H 1 0.233333333 ENSG00000130695 chr1:26268583-26268583;G/A missense_variant False CEPT1@p.F381L 1 0.147058824 ENSG00000134255 chr1:111184202-111184202;C/G missense_variant False CEP85@p.K414N 1 0.422222222 ENSG00000130695 chr1:26259703-26259703;G/T missense_variant False CEP85@p.I38M 1 0.424242424 ENSG00000130695 chr1:26244224-26244224;C/G missense_variant False CEP85@p.D54N 1 0.166666667 ENSG00000130695 chr1:26244270-26244270;G/A missense_variant False CEP83@p.R378H 1 0.184210526 ENSG00000173588 chr12:94368117-94368117;C/T missense_variant False CEP83@p.L408Ffs*9 1 0.318681319 ENSG00000173588 chr12:94367913-94367914;-/A frameshift_variant False CEP83@p.E89K 1 0.15942029 ENSG00000173588 chr12:94411756-94411756;C/T missense_variant False CEP89@p.K244E 1 0.355555556 ENSG00000121289 chr19:32933607-32933607;T/C missense_variant False CEP89@p.L757R 1 0.368 ENSG00000121289 chr19:32879244-32879244;A/C missense_variant False CEP89@p.P37A 1 0.222222222 ENSG00000121289 chr19:32966397-32966397;G/C missense_variant False CEP89@p.S114C 1 0.480263158 ENSG00000121289 chr19:32953766-32953766;G/C missense_variant False CEP89@p.S114F 1 0.133333333 ENSG00000121289 chr19:32953766-32953766;G/A missense_variant False CEP89@p.V753Pfs*23 1 0.3 ENSG00000121289 chr19:32879254-32879257;CAAC/- frameshift_variant False CEP95@p.E367K 1 0.322033898 ENSG00000258890 chr17:64526147-64526147;G/A missense_variant False CEP95@p.E616Q 1 0.365384615 ENSG00000258890 chr17:64533120-64533120;G/C missense_variant False CEP95@p.R706T 1 0.216216216 ENSG00000258890 chr17:64536648-64536648;G/C missense_variant False CEP97@p.A125T 1 0.102272727 ENSG00000182504 chr3:101728863-101728863;G/A missense_variant False CEP97@p.E196K 1 0.129032258 ENSG00000182504 chr3:101732512-101732512;G/A missense_variant False CEP97@p.E692D 1 0.448979592 ENSG00000182504 chr3:101765029-101765029;G/T missense_variant False CEP97@p.F625L 1 0.125 ENSG00000182504 chr3:101762542-101762542;C/G missense_variant False CEP97@p.P827A 1 0.166666667 ENSG00000182504 chr3:101765432-101765432;C/G missense_variant False CEP97@p.Q297L 1 0.366666667 ENSG00000182504 chr3:101755591-101755591;A/T missense_variant False CEP97@p.Q556H 1 0.255319149 ENSG00000182504 chr3:101758274-101758274;G/T missense_variant False CEP97@p.Q780E 1 0.302325581 ENSG00000182504 chr3:101765291-101765291;C/G missense_variant False CELSR1@p.E820Q 1 0.326086957 ENSG00000075275 chr22:46534713-46534713;C/G missense_variant False CELSR1@p.D3007N 1 0.346153846 ENSG00000075275 chr22:46364012-46364012;C/T missense_variant False CDH11@p.D260N 1 0.71942446 ENSG00000140937 chr16:64991801-64991801;C/T missense_variant False CDH7@p.T338M 1 0.282051282 ENSG00000081138 chr18:65843843-65843843;C/T missense_variant False CDH8@p.E750K 1 0.0625 ENSG00000150394 chr16:61653760-61653760;C/T missense_variant False CDH8@p.E287D 1 0.104166667 ENSG00000150394 chr16:61821088-61821088;T/G missense_variant False CDH8@p.D742N 1 0.121621622 ENSG00000150394 chr16:61653784-61653784;C/T missense_variant False CDH8@p.D669N 1 0.281690141 ENSG00000150394 chr16:61654003-61654003;C/T missense_variant False CDH8@p.D196Y 1 0.191780822 ENSG00000150394 chr16:61857200-61857200;C/A missense_variant False CDH7@p.W712C 1 0.492063492 ENSG00000081138 chr18:65880672-65880672;G/C missense_variant False CDH7@p.S203L 1 0.290322581 ENSG00000081138 chr18:65814587-65814587;C/T missense_variant False CDH8@p.L291F 1 0.25 ENSG00000150394 chr16:61821078-61821078;G/A missense_variant False CDH7@p.R678Q 1 0.203389831 ENSG00000081138 chr18:65880569-65880569;G/A missense_variant False CDH7@p.Q231E 1 0.117647059 ENSG00000081138 chr18:65822146-65822146;C/G missense_variant False CDH7@p.P167L 1 0.407407407 ENSG00000081138 chr18:65809993-65809993;C/T missense_variant False CDH7@p.N445D 1 0.306818182 ENSG00000081138 chr18:65857913-65857913;A/G missense_variant False CDH7@p.E487K 1 0.125 ENSG00000081138 chr18:65859011-65859011;G/A missense_variant False CDH6@p.V746M 1 0.378378378 ENSG00000113361 chr5:31323171-31323171;G/A missense_variant False CDH8@p.E798Q 1 0.620253165 ENSG00000150394 chr16:61653616-61653616;C/G missense_variant False CDH8@p.N550S 1 0.307692308 ENSG00000150394 chr16:61713846-61713846;T/C missense_variant False CDK14@p.P230L 1 0.210526316 ENSG00000058091 chr7:90899340-90899340;C/T missense_variant False CDH9@p.R587H 1 0.25 ENSG00000113100 chr5:26885736-26885736;C/T missense_variant False CDHR1@p.G300R 1 0.590909091 ENSG00000148600 chr10:84205862-84205862;G/A missense_variant False CDHR1@p.F42L 1 0.346153846 ENSG00000148600 chr10:84195564-84195564;C/G missense_variant False CDHR1@p.E424D 1 0.484848485 ENSG00000148600 chr10:84208833-84208833;G/T missense_variant False CDH9@p.W12R 1 0.285714286 ENSG00000113100 chr5:26988300-26988300;A/G missense_variant False CDH9@p.T494I 1 0.277777778 ENSG00000113100 chr5:26889867-26889867;G/A missense_variant False CDH9@p.R788G 1 0.408839779 ENSG00000113100 chr5:26881144-26881144;G/C missense_variant False CDH9@p.G742A 1 0.254385965 ENSG00000113100 chr5:26881281-26881281;C/G missense_variant False CDH8@p.N734S 1 0.428571429 ENSG00000150394 chr16:61653807-61653807;T/C missense_variant False CDH9@p.F61S 1 0.3 ENSG00000113100 chr5:26988152-26988152;A/G missense_variant False CDH9@p.E462K 1 0.15 ENSG00000113100 chr5:26890434-26890434;C/T missense_variant False CDH9@p.D348N 1 0.217391304 ENSG00000113100 chr5:26902687-26902687;C/T missense_variant False CDH8@p.V378G 1 0.102564103 ENSG00000150394 chr16:61817623-61817623;A/C missense_variant False CDH8@p.S393L 1 0.294117647 ENSG00000150394 chr16:61817578-61817578;G/A missense_variant False CDH8@p.P616A 1 0.31372549 ENSG00000150394 chr16:61655530-61655530;G/C missense_variant False CDH6@p.R701Q 1 0.482352941 ENSG00000113361 chr5:31323037-31323037;G/A missense_variant False CDH6@p.R587W 1 0.488372093 ENSG00000113361 chr5:31317801-31317801;C/T missense_variant False CDH6@p.L527F 1 0.202702703 ENSG00000113361 chr5:31317443-31317443;G/C missense_variant False CDH4@p.M229V 1 0.12962963 ENSG00000179242 chr20:61844776-61844776;A/G missense_variant False CDH4@p.T101M 1 0.315789474 ENSG00000179242 chr20:61743695-61743695;C/T missense_variant False CDH4@p.S886F 1 0.472727273 ENSG00000179242 chr20:61936849-61936849;C/T missense_variant False CDH4@p.S434Tfs*9 1 0.136363636 ENSG00000179242 chr20:61910532-61910550;CAGTGGGGATCCATCCGGG/- frameshift_variant False CDH4@p.S224C 1 0.290909091 ENSG00000179242 chr20:61844762-61844762;C/G missense_variant False CDH4@p.R317Q 1 0.093596059 ENSG00000179242 chr20:61873800-61873800;G/A missense_variant False CDH4@p.M330I 1 0.213675214 ENSG00000179242 chr20:61873840-61873840;G/T missense_variant False CDH4@p.G911E 1 0.40625 ENSG00000179242 chr20:61936924-61936924;G/A missense_variant False CDH6@p.E490K 1 0.176470588 ENSG00000113361 chr5:31316285-31316285;G/A missense_variant False CDH4@p.E785A 1 0.166666667 ENSG00000179242 chr20:61933099-61933099;A/C missense_variant False CDH4@p.E760Q 1 0.333333333 ENSG00000179242 chr20:61933023-61933023;G/C missense_variant False CDH4@p.E582K 1 0.304347826 ENSG00000179242 chr20:61924449-61924449;G/A missense_variant False CDH4@p.D820N 1 0.12244898 ENSG00000179242 chr20:61934134-61934134;G/A missense_variant False CDH4@p.D820H 1 0.15625 ENSG00000179242 chr20:61934134-61934134;G/C missense_variant False CDH4@p.D715E 1 0.146341463 ENSG00000179242 chr20:61929748-61929748;C/A missense_variant False CDH4@p.V776I 1 0.284090909 ENSG00000179242 chr20:61933071-61933071;G/A missense_variant False CDH5@p.A706P 1 0.533333333 ENSG00000179776 chr16:66402930-66402930;G/C missense_variant False CDH5@p.D726E 1 0.489795918 ENSG00000179776 chr16:66402992-66402992;C/A missense_variant False CDH5@p.E472K 1 0.416666667 ENSG00000179776 chr16:66398035-66398035;G/A missense_variant False CDH5@p.E521K 1 0.295454545 ENSG00000179776 chr16:66398531-66398531;G/A missense_variant False CDH5@p.H142N 1 0.346938776 ENSG00000179776 chr16:66387022-66387022;C/A missense_variant False CDH5@p.K213Q 1 0.320754717 ENSG00000179776 chr16:66389378-66389378;A/C missense_variant False CDH5@p.L394M 1 0.5234375 ENSG00000179776 chr16:66392346-66392346;C/A missense_variant False CDH5@p.P134L 1 0.388888889 ENSG00000179776 chr16:66386999-66386999;C/T missense_variant False CDH5@p.R510Q 1 0.314814815 ENSG00000179776 chr16:66398499-66398499;G/A missense_variant False CDH6@p.D294N 1 0.085714286 ENSG00000113361 chr5:31302179-31302179;G/A missense_variant False CDH6@p.D309Y 1 0.388888889 ENSG00000113361 chr5:31302224-31302224;G/T missense_variant False CDH6@p.D515H 1 0.081081081 ENSG00000113361 chr5:31317405-31317405;G/C missense_variant False CDH6@p.D661H 1 0.19047619 ENSG00000113361 chr5:31322916-31322916;G/C missense_variant False CDH6@p.D691G 1 0.511111111 ENSG00000113361 chr5:31323007-31323007;A/G missense_variant False CDH6@p.E230K 1 0.185185185 ENSG00000113361 chr5:31299508-31299508;G/A missense_variant False CDH6@p.E375K 1 0.195121951 ENSG00000113361 chr5:31305297-31305297;G/A missense_variant False CDHR1@p.K728N 1 0.563218391 ENSG00000148600 chr10:84214225-84214225;G/C missense_variant False CDHR1@p.Q581H 1 0.227642276 ENSG00000148600 chr10:84212368-84212368;G/C missense_variant False CDHR1@p.R280Q 1 0.484848485 ENSG00000148600 chr10:84204582-84204582;G/A missense_variant False CDK12@p.E711K 1 0.2125 ENSG00000167258 chr17:39492773-39492773;G/A missense_variant False CDK12@p.P891L 1 0.078947368 ENSG00000167258 chr17:39511534-39511534;C/T missense_variant False CDK12@p.P707S 1 0.145833333 ENSG00000167258 chr17:39492761-39492761;C/T missense_variant False CDK12@p.M415V 1 0.302158273 ENSG00000167258 chr17:39471075-39471075;A/G missense_variant False CDK12@p.E98K 1 0.272727273 ENSG00000167258 chr17:39462363-39462363;G/A missense_variant False CDK12@p.E95Rfs*29 1 0.142857143 ENSG00000167258 chr17:39462352-39462352;G/- frameshift_variant False CDK12@p.E765G 1 0.177419355 ENSG00000167258 chr17:39494569-39494569;A/G missense_variant False CDK12@p.E471Q 1 0.095238095 ENSG00000167258 chr17:39471243-39471243;G/C missense_variant False CDK11A@p.R54T 1 0.134615385 ENSG00000008128 chr1:1721662-1721662;C/G missense_variant False CDK12@p.E189K 1 0.243243243 ENSG00000167258 chr17:39462636-39462636;G/A missense_variant False CDK12@p.E1041K 1 0.195402299 ENSG00000167258 chr17:39524699-39524699;G/A missense_variant False CDK12@p.E1024K 1 0.215189873 ENSG00000167258 chr17:39520062-39520062;G/A missense_variant False CDK12@p.D459H 1 0.182291667 ENSG00000167258 chr17:39471207-39471207;G/C missense_variant False CDK12@p.A397V 1 0.08 ENSG00000167258 chr17:39471022-39471022;C/T missense_variant False CDK11B@p.G506C 1 0.1 ENSG00000248333 chr1:1637501-1637501;C/A missense_variant False CDK12@p.P904A 1 0.333333333 ENSG00000167258 chr17:39511572-39511572;C/G missense_variant False CDK12@p.R344W 1 0.542857143 ENSG00000167258 chr17:39463101-39463101;C/T missense_variant False CDK12@p.R902Q 1 0.06097561 ENSG00000167258 chr17:39511567-39511567;G/A missense_variant False CDK12@p.S1142C 1 0.507692308 ENSG00000167258 chr17:39525981-39525981;C/G missense_variant False CDK12@p.S1329F 1 0.430769231 ENSG00000167258 chr17:39530829-39530829;C/T missense_variant False CDK12@p.S1377L 1 0.292307692 ENSG00000167258 chr17:39530973-39530973;C/T missense_variant False CDK12@p.S148L 1 0.2 ENSG00000167258 chr17:39462514-39462514;C/T missense_variant False CDK12@p.S283L 1 0.233333333 ENSG00000167258 chr17:39462919-39462919;C/T missense_variant False CDK12@p.S534F 1 0.149122807 ENSG00000167258 chr17:39471433-39471433;C/T missense_variant False CDK12@p.S614C 1 0.13559322 ENSG00000167258 chr17:39471673-39471673;C/G missense_variant False CDK13@p.K594Tfs*20 1 0.384615385 ENSG00000065883 chr7:39988160-39988173;AGGAGCCAAGGAGA/- frameshift_variant False CDK13@p.P440S 1 0.45 ENSG00000065883 chr7:39987705-39987705;C/T missense_variant False CDK13@p.Q333E 1 0.357142857 ENSG00000065883 chr7:39951638-39951638;C/G missense_variant False CDK13@p.Q333H 1 0.333333333 ENSG00000065883 chr7:39951640-39951640;G/C missense_variant False CDK13@p.S1331C 1 0.589147287 ENSG00000065883 chr7:40094433-40094433;C/G missense_variant False CDK13@p.S490L 1 0.452380952 ENSG00000065883 chr7:39987856-39987856;C/T missense_variant False CDK13@p.S816L 1 0.278846154 ENSG00000065883 chr7:40045929-40045929;C/T missense_variant False CDK11B@p.E485K 1 0.261627907 ENSG00000248333 chr1:1637812-1637812;C/T missense_variant False CDK11A@p.P87L 1 0.444444444 ENSG00000008128 chr1:1719423-1719423;G/A missense_variant False CDHR1@p.S720C 1 0.230769231 ENSG00000148600 chr10:84214200-84214200;C/G missense_variant False CDHR2@p.P1209T 1 0.260869565 ENSG00000074276 chr5:176591295-176591295;C/A missense_variant False CDHR5@p.E818V 1 0.227272727 ENSG00000099834 chr11:617418-617418;T/A missense_variant False CDHR5@p.E56K 1 0.205882353 ENSG00000099834 chr11:624652-624652;C/T missense_variant False CDHR3@p.G38R 1 0.444444444 ENSG00000128536 chr7:105974909-105974909;G/A missense_variant False CDHR3@p.E813Q 1 0.069767442 ENSG00000128536 chr7:106032476-106032476;G/C missense_variant False CDHR2@p.Y1214H 1 0.142857143 ENSG00000074276 chr5:176591310-176591310;T/C missense_variant False CDHR2@p.P709S 1 0.430769231 ENSG00000074276 chr5:176584256-176584256;C/T missense_variant False CDHR2@p.L620V 1 0.787234043 ENSG00000074276 chr5:176581382-176581382;C/G missense_variant False CDK11A@p.E595Q 1 0.2 ENSG00000008128 chr1:1704059-1704059;C/G missense_variant False CDHR2@p.L528F 1 0.333333333 ENSG00000074276 chr5:176578372-176578372;C/T missense_variant False CDHR2@p.I277M 1 0.2 ENSG00000074276 chr5:176575568-176575568;C/G missense_variant False CDHR2@p.H1270Y 1 0.412037037 ENSG00000074276 chr5:176595547-176595547;C/T missense_variant False CDHR2@p.G64D 1 0.469135802 ENSG00000074276 chr5:176568744-176568744;G/A missense_variant False CDHR2@p.E109D 1 0.37254902 ENSG00000074276 chr5:176571224-176571224;G/C missense_variant False CDHR1@p.V559I 1 0.277227723 ENSG00000148600 chr10:84212300-84212300;G/A missense_variant False CDHR5@p.H261Y 1 0.358695652 ENSG00000099834 chr11:621088-621088;G/A missense_variant False CDHR5@p.I274M 1 0.135135135 ENSG00000099834 chr11:620354-620354;G/C missense_variant False CDHR5@p.P568S 1 0.204724409 ENSG00000099834 chr11:618839-618839;G/A missense_variant False CDHR5@p.R72W 1 0.23255814 ENSG00000099834 chr11:624604-624604;G/A missense_variant False CDHR5@p.S440F 1 0.64 ENSG00000099834 chr11:619365-619365;G/A missense_variant False CDHR5@p.S616Y 1 0.276595745 ENSG00000099834 chr11:618694-618694;G/T missense_variant False CDHR5@p.S652W 1 0.130434783 ENSG00000099834 chr11:618099-618099;G/C missense_variant False CDIN1@p.E254D 1 0.269230769 ENSG00000186073 chr15:36808369-36808369;G/C missense_variant False CDIN1@p.E254Q 1 0.105263158 ENSG00000186073 chr15:36808367-36808367;G/C missense_variant False CDIP1@p.E55D 1 0.222222222 ENSG00000089486 chr16:4513772-4513772;C/G missense_variant False CDIPT@p.D124N 1 0.559322034 ENSG00000103502 chr16:29860625-29860625;C/T missense_variant False CDK10@p.C317S 1 0.186046512 ENSG00000185324 chr16:89695310-89695310;G/C missense_variant False CDK10@p.E40Q 1 0.72972973 ENSG00000185324 chr16:89689282-89689282;G/C missense_variant False CDK11A@p.E157Q 1 0.333333333 ENSG00000008128 chr1:1712390-1712390;C/G missense_variant False CDK11A@p.E391K 1 0.160714286 ENSG00000008128 chr1:1707492-1707492;C/T missense_variant False CDK11A@p.E49Q 1 0.133333333 ENSG00000008128 chr1:1721678-1721678;C/G missense_variant False CDK11A@p.E508K 1 0.642857143 ENSG00000008128 chr1:1704601-1704601;C/T missense_variant False CDH4@p.D223N 1 0.134328358 ENSG00000179242 chr20:61844758-61844758;G/A missense_variant False CDH3@p.T455I 1 0.219269103 ENSG00000062038 chr16:68684764-68684764;C/T missense_variant False CDH3@p.R503C 1 0.352941176 ENSG00000062038 chr16:68685287-68685287;C/T missense_variant False CDH16@p.L203P 1 0.735294118 ENSG00000166589 chr16:66914388-66914388;A/G missense_variant False CDH17@p.D692Y 1 0.333333333 ENSG00000079112 chr8:94146021-94146021;C/A missense_variant False CDH17@p.D503H 1 0.201834862 ENSG00000079112 chr8:94160015-94160015;C/G missense_variant False CDH16@p.R776Pfs*2 1 0.392857143 ENSG00000166589 chr16:66909332-66909332;C/- frameshift_variant False CDH16@p.Q533H 1 0.21875 ENSG00000166589 chr16:66912090-66912090;C/G missense_variant False CDH16@p.P816S 1 0.340425532 ENSG00000166589 chr16:66908436-66908436;G/A missense_variant False CDH16@p.P644R 1 0.341772152 ENSG00000166589 chr16:66910496-66910496;G/C missense_variant False CDH16@p.I442F 1 0.196969697 ENSG00000166589 chr16:66912539-66912539;T/A missense_variant False CDH15@p.R381W 1 0.458333333 ENSG00000129910 chr16:89190405-89190405;C/T missense_variant False CDH16@p.F147L 1 0.203389831 ENSG00000166589 chr16:66915362-66915362;G/T missense_variant False CDH16@p.E88K 1 0.164179104 ENSG00000166589 chr16:66916297-66916297;C/T missense_variant False CDH16@p.E149Q 1 0.426829268 ENSG00000166589 chr16:66915358-66915358;C/G missense_variant False CDH16@p.D821N 1 0.255555556 ENSG00000166589 chr16:66908421-66908421;C/T missense_variant False CDH16@p.D444N 1 0.448979592 ENSG00000166589 chr16:66912533-66912533;C/T missense_variant False CDH16@p.D331E 1 0.051612903 ENSG00000166589 chr16:66913192-66913192;G/T missense_variant False CDH17@p.I612N 1 0.552631579 ENSG00000079112 chr8:94148836-94148836;A/T missense_variant False CDH17@p.K329Q 1 0.504132231 ENSG00000079112 chr8:94170478-94170478;T/G missense_variant False CDH17@p.K412_D414del 1 0.341772152 ENSG00000079112 chr8:94165800-94165808;TATCTTGCT/- inframe_deletion False CDH17@p.P44L 1 0.181818182 ENSG00000079112 chr8:94189206-94189206;G/A missense_variant False CDH17@p.P632S 1 0.390243902 ENSG00000079112 chr8:94148777-94148777;G/A missense_variant False CDH17@p.Q181E 1 0.112627986 ENSG00000079112 chr8:94174144-94174144;G/C missense_variant False CDH17@p.Q46K 1 0.117647059 ENSG00000079112 chr8:94189201-94189201;G/T missense_variant False CDH17@p.R74L 1 0.264150943 ENSG00000079112 chr8:94177651-94177651;C/A missense_variant False CDH18@p.A618T 1 0.444444444 ENSG00000145526 chr5:19483331-19483331;C/T missense_variant False CDH18@p.D366H 1 0.25 ENSG00000145526 chr5:19571736-19571736;C/G missense_variant False CDH18@p.E426K 1 0.390243902 ENSG00000145526 chr5:19543983-19543983;C/T missense_variant False CDH18@p.E64D 1 0.105263158 ENSG00000145526 chr5:19838795-19838795;T/A missense_variant False CDH18@p.I131V 1 0.304 ENSG00000145526 chr5:19747074-19747074;T/C missense_variant False CDH18@p.L63S 1 0.710144928 ENSG00000145526 chr5:19838799-19838799;A/G missense_variant False CDH18@p.R677K 1 0.194656489 ENSG00000145526 chr5:19473569-19473569;C/T missense_variant False CDH18@p.S317L 1 0.064327485 ENSG00000145526 chr5:19591106-19591106;G/A missense_variant False CDH18@p.T122A 1 0.253521127 ENSG00000145526 chr5:19747101-19747101;T/C missense_variant False CDH15@p.R812W 1 0.235294118 ENSG00000129910 chr16:89195144-89195144;C/T missense_variant False CDH15@p.Q434H 1 0.253164557 ENSG00000129910 chr16:89191399-89191399;G/C missense_variant False CDH18@p.T512I 1 0.432835821 ENSG00000145526 chr5:19503087-19503087;G/A missense_variant False CDH11@p.P732H 1 0.656521739 ENSG00000140937 chr16:64947799-64947799;G/T missense_variant False CDH12@p.G18D 1 0.285024155 ENSG00000154162 chr5:22078624-22078624;C/T missense_variant False CDH12@p.D189N 1 0.746835443 ENSG00000154162 chr5:21854752-21854752;C/T missense_variant False CDH12@p.D16H 1 0.232 ENSG00000154162 chr5:22078631-22078631;C/G missense_variant False CDH12@p.A293V 1 0.276595745 ENSG00000154162 chr5:21817069-21817069;G/A missense_variant False CDH11@p.R466G 1 0.222222222 ENSG00000140937 chr16:64972059-64972059;G/C missense_variant False CDH11@p.P735S 1 0.25 ENSG00000140937 chr16:64947791-64947791;G/A missense_variant False CDH11@p.P189S 1 0.316666667 ENSG00000140937 chr16:64992993-64992993;G/A missense_variant False CDH15@p.G683R 1 0.132075472 ENSG00000129910 chr16:89193809-89193809;G/C missense_variant False CDH11@p.G749C 1 0.358333333 ENSG00000140937 chr16:64947749-64947749;C/A missense_variant False CDH11@p.G599R 1 0.263157895 ENSG00000140937 chr16:64950866-64950866;C/T missense_variant False CDH11@p.E379K 1 0.060344828 ENSG00000140937 chr16:64982166-64982166;C/T missense_variant False CDH11@p.D794N 1 0.459183673 ENSG00000140937 chr16:64947614-64947614;C/T missense_variant False CDH11@p.D428N 1 0.5 ENSG00000140937 chr16:64973012-64973012;C/T missense_variant False CDH11@p.D366Tfs*3 1 0.255319149 ENSG00000140937 chr16:64982205-64982205;C/- frameshift_variant False CDH12@p.G328R 1 0.226315789 ENSG00000154162 chr5:21816965-21816965;C/T missense_variant False CDH12@p.I571T 1 0.136363636 ENSG00000154162 chr5:21755764-21755764;A/G missense_variant False CDH12@p.L203F 1 0.227848101 ENSG00000154162 chr5:21854710-21854710;G/A missense_variant False CDH12@p.L31S 1 0.391489362 ENSG00000154162 chr5:22078585-22078585;A/G missense_variant False CDH12@p.L617F 1 0.178571429 ENSG00000154162 chr5:21755625-21755625;C/G missense_variant False CDH12@p.R119T 1 0.14893617 ENSG00000154162 chr5:21975261-21975261;C/G missense_variant False CDH12@p.T758S 1 0.20754717 ENSG00000154162 chr5:21751849-21751849;G/C missense_variant False CDH12@p.V399E 1 0.525 ENSG00000154162 chr5:21802227-21802227;A/T missense_variant False CDH13@p.D595N 1 0.230769231 ENSG00000140945 chr16:83780069-83780069;G/A missense_variant False CDH13@p.E256K 1 0.3046875 ENSG00000140945 chr16:83344991-83344991;G/A missense_variant False CDH13@p.E332D 1 0.365079365 ENSG00000140945 chr16:83602489-83602489;G/C missense_variant False CDH13@p.I38M 1 0.352941176 ENSG00000140945 chr16:82858430-82858430;C/G missense_variant False CDH13@p.N684K 1 0.444444444 ENSG00000140945 chr16:83783390-83783390;T/A missense_variant False CDH13@p.S435Y 1 0.244444444 ENSG00000140945 chr16:83678227-83678227;C/A missense_variant False CDH13@p.V492M 1 0.155172414 ENSG00000140945 chr16:83678397-83678397;G/A missense_variant False CDH15@p.A721T 1 0.25 ENSG00000129910 chr16:89194871-89194871;G/A missense_variant False CDH15@p.E356K 1 0.363636364 ENSG00000129910 chr16:89190330-89190330;G/A missense_variant False CDH18@p.T413N 1 0.415730337 ENSG00000145526 chr5:19571594-19571594;G/T missense_variant False CDH18@p.T635I 1 0.085106383 ENSG00000145526 chr5:19473695-19473695;G/A missense_variant False CDH3@p.Q126H 1 0.254901961 ENSG00000062038 chr16:68678265-68678265;G/C missense_variant False CDH24@p.E471K 1 0.333333333 ENSG00000139880 chr14:23052036-23052036;C/T missense_variant False CDH26@p.F151L 1 0.143884892 ENSG00000124215 chr20:59982982-59982982;C/G missense_variant False CDH26@p.E511Q 1 0.120879121 ENSG00000124215 chr20:59994354-59994354;G/C missense_variant False CDH26@p.E331D 1 0.178861789 ENSG00000124215 chr20:59987608-59987608;G/C missense_variant False CDH26@p.E278K 1 0.238095238 ENSG00000124215 chr20:59985124-59985124;G/A missense_variant False CDH26@p.D344N 1 0.314285714 ENSG00000124215 chr20:59988910-59988910;G/A missense_variant False CDH24@p.S126F 1 0.125748503 ENSG00000139880 chr14:23055178-23055178;G/A missense_variant False CDH24@p.E440K 1 0.193548387 ENSG00000139880 chr14:23052518-23052518;C/T missense_variant False CDH23@p.G1542S 1 0.454545455 ENSG00000107736 chr10:71741700-71741700;G/A missense_variant False CDH23@p.T2745I 1 0.470588235 ENSG00000107736 chr10:71807332-71807332;C/T missense_variant False CDH23@p.R3267C 1 0.145038168 ENSG00000107736 chr10:71815012-71815012;C/T missense_variant False CDH23@p.R3206P 1 0.272727273 ENSG00000107736 chr10:71812874-71812874;G/C missense_variant False CDH23@p.N128S 1 0.141221374 ENSG00000107736 chr10:71511166-71511166;A/G missense_variant False CDH23@p.M3030V 1 0.546666667 ENSG00000107736 chr10:71811325-71811325;A/G missense_variant False CDH23@p.I958V 1 0.309859155 ENSG00000107736 chr10:71705049-71705049;A/G missense_variant False CDH26@p.S148C 1 0.143589744 ENSG00000124215 chr20:59982972-59982972;C/G missense_variant False CDH2@p.E278K 1 0.1875 ENSG00000170558 chr18:28005864-28005864;C/T missense_variant False CDH2@p.E465K 1 0.208333333 ENSG00000170558 chr18:27990302-27990302;C/T missense_variant False CDH2@p.E72Q 1 0.285714286 ENSG00000170558 chr18:28013868-28013868;C/G missense_variant False CDH2@p.E811K 1 0.293333333 ENSG00000170558 chr18:27963440-27963440;C/T missense_variant False CDH2@p.F210L 1 0.432432432 ENSG00000170558 chr18:28009789-28009789;G/T missense_variant False CDH2@p.I251T 1 0.417582418 ENSG00000170558 chr18:28005944-28005944;A/G missense_variant False CDH2@p.I349L 1 0.057591623 ENSG00000170558 chr18:27993613-27993613;T/G missense_variant False CDH2@p.L56F 1 0.104761905 ENSG00000170558 chr18:28147679-28147679;G/A missense_variant False CDH2@p.N357S 1 0.15920398 ENSG00000170558 chr18:27993588-27993588;T/C missense_variant False CDH2@p.N466I 1 0.140350877 ENSG00000170558 chr18:27990298-27990298;T/A missense_variant False CDH2@p.Q467E 1 0.402173913 ENSG00000170558 chr18:27990296-27990296;G/C missense_variant False CDH2@p.R650I 1 0.377358491 ENSG00000170558 chr18:27985554-27985554;C/A missense_variant False CDH2@p.S172P 1 0.073170732 ENSG00000170558 chr18:28011878-28011878;A/G missense_variant False CDH3@p.D151H 1 0.2375 ENSG00000062038 chr16:68678561-68678561;G/C missense_variant False CDH3@p.E261Q 1 0.555555556 ENSG00000062038 chr16:68679888-68679888;G/C missense_variant False CDH3@p.G661R 1 0.347826087 ENSG00000062038 chr16:68691905-68691905;G/A missense_variant False CDH23@p.I311M 1 0.240740741 ENSG00000107736 chr10:71615604-71615604;C/G missense_variant False CDH23@p.F35L 1 0.632911392 ENSG00000107736 chr10:71446355-71446355;C/A missense_variant False CDH18@p.Y738H 1 0.256410256 ENSG00000145526 chr5:19473387-19473387;A/G missense_variant False CDH19@p.E745K 1 0.113636364 ENSG00000071991 chr18:66504898-66504898;C/T missense_variant False CDH1@p.D590N 1 0.357142857 ENSG00000039068 chr16:68822057-68822057;G/A missense_variant True CDH1@p.D400del 1 0.244274809 ENSG00000039068 chr16:68813372-68813374;TGA/- inframe_deletion True CDH1@p.D313N 1 0.371428571 ENSG00000039068 chr16:68811788-68811788;G/A missense_variant True CDH19@p.R679K 1 0.591715976 ENSG00000071991 chr18:66505095-66505095;C/T missense_variant False CDH19@p.M291I 1 0.484375 ENSG00000071991 chr18:66544806-66544806;C/T missense_variant False CDH19@p.G645R 1 0.134615385 ENSG00000071991 chr18:66505198-66505198;C/T missense_variant False CDH19@p.E704K 1 0.467213115 ENSG00000071991 chr18:66505021-66505021;C/T missense_variant False CDH23@p.E737K 1 0.32 ENSG00000107736 chr10:71694179-71694179;G/A missense_variant False CDH19@p.E325Q 1 0.181818182 ENSG00000071991 chr18:66544212-66544212;C/G missense_variant False CDH19@p.E131Q 1 0.195488722 ENSG00000071991 chr18:66568515-66568515;C/G missense_variant False CDH19@p.D691N 1 0.068965517 ENSG00000071991 chr18:66505060-66505060;C/T missense_variant False CDH19@p.D523N 1 0.138888889 ENSG00000071991 chr18:66511577-66511577;C/T missense_variant False CDH19@p.D292N 1 0.507462687 ENSG00000071991 chr18:66544805-66544805;C/T missense_variant False CDH19@p.C582W 1 0.170731707 ENSG00000071991 chr18:66509077-66509077;G/C missense_variant False CDH1@p.E243Q 1 0.412429379 ENSG00000039068 chr16:68810236-68810236;G/C missense_variant True CDH1@p.K113E 1 0.150793651 ENSG00000039068 chr16:68801843-68801843;A/G missense_variant True CDH1@p.L798V 1 0.196850394 ENSG00000039068 chr16:68829750-68829750;C/G missense_variant True CDH1@p.R63P 1 0.221374046 ENSG00000039068 chr16:68801694-68801694;G/C missense_variant True CDH20@p.E504Q 1 0.147435897 ENSG00000101542 chr18:61539125-61539125;G/C missense_variant False CDH22@p.D583N 1 0.14893617 ENSG00000149654 chr20:46178114-46178114;C/T missense_variant False CDH22@p.E242Q 1 0.080597015 ENSG00000149654 chr20:46216940-46216940;C/G missense_variant False CDH22@p.E288Q 1 0.441176471 ENSG00000149654 chr20:46213165-46213165;C/G missense_variant False CDH22@p.L627I 1 0.391304348 ENSG00000149654 chr20:46177982-46177982;G/T missense_variant False CDH22@p.V225A 1 0.291666667 ENSG00000149654 chr20:46216990-46216990;A/G missense_variant False CDH23@p.A2198D 1 0.510638298 ENSG00000107736 chr10:71793521-71793521;C/A missense_variant False CDH23@p.A603E 1 0.666666667 ENSG00000107736 chr10:71679442-71679442;C/A missense_variant False CDH23@p.D987Y 1 0.3 ENSG00000107736 chr10:71706902-71706902;G/T missense_variant False CDH23@p.E1489Q 1 0.390243902 ENSG00000107736 chr10:71739749-71739749;G/C missense_variant False CDH23@p.E1967Q 1 0.21875 ENSG00000107736 chr10:71789018-71789018;G/C missense_variant False CDH23@p.E3158Q 1 0.350877193 ENSG00000107736 chr10:71812571-71812571;G/C missense_variant False CDH23@p.E3319D 1 0.307692308 ENSG00000107736 chr10:71815170-71815170;G/C missense_variant False CDK14@p.D216N 1 0.282608696 ENSG00000058091 chr7:90899297-90899297;G/A missense_variant False CDK14@p.S107C 1 0.086538462 ENSG00000058091 chr7:90726763-90726763;C/G missense_variant False CELSR1@p.D1975N 1 0.714285714 ENSG00000075275 chr22:46394183-46394183;C/T missense_variant False CDYL@p.D386N 1 0.244897959 ENSG00000153046 chr6:4937610-4937610;G/A missense_variant False CEACAM1@p.A223V 1 0.495575221 ENSG00000079385 chr19:42521959-42521959;G/A missense_variant False CEACAM19@p.S12L 1 0.457142857 ENSG00000186567 chr19:44671966-44671966;C/T missense_variant False CEACAM19@p.D116H 1 0.108433735 ENSG00000186567 chr19:44672886-44672886;G/C missense_variant False CEACAM18@p.R180W 1 0.238095238 ENSG00000213822 chr19:51481530-51481530;C/T missense_variant False CDYL@p.S455C 1 0.206896552 ENSG00000153046 chr6:4943626-4943626;C/G missense_variant False CDYL@p.E250K 1 0.292682927 ENSG00000153046 chr6:4892274-4892274;G/A missense_variant False CDYL2@p.V350M 1 0.333333333 ENSG00000166446 chr16:80612796-80612796;C/T missense_variant False CEACAM21@p.F175L 1 0.352941176 ENSG00000007129 chr19:41579453-41579453;C/G missense_variant False CDYL2@p.P84L 1 0.108695652 ENSG00000166446 chr16:80684903-80684903;G/A missense_variant False CDYL2@p.F260L 1 0.260162602 ENSG00000166446 chr16:80633073-80633073;G/T missense_variant False CDX1@p.R183W 1 0.19047619 ENSG00000113722 chr5:150182869-150182869;C/T missense_variant False CDT1@p.P404A 1 0.184210526 ENSG00000167513 chr16:88807138-88807138;C/G missense_variant False CDT1@p.K100N 1 0.416666667 ENSG00000167513 chr16:88804616-88804616;A/C missense_variant False CDSN@p.S198C 1 0.458677686 ENSG00000204539 chr6:31117022-31117022;G/C missense_variant False CEACAM1@p.L443V 1 0.238095238 ENSG00000079385 chr19:42512399-42512399;G/C missense_variant False CEACAM21@p.G17E 1 0.128571429 ENSG00000007129 chr19:41576324-41576324;G/A missense_variant False CDK14@p.S285T 1 0.22173913 ENSG00000058091 chr7:90955724-90955724;G/C missense_variant False CEACAM5@p.G473R 1 0.042553191 ENSG00000105388 chr19:41718307-41718307;G/A missense_variant False CEACAM6@p.E170K 1 0.155251142 ENSG00000086548 chr19:41761332-41761332;G/A missense_variant False CEACAM5@p.S465C 1 0.298701299 ENSG00000105388 chr19:41718284-41718284;C/G missense_variant False CEACAM5@p.S40F 1 0.517766497 ENSG00000105388 chr19:41709734-41709734;C/T missense_variant False CEACAM5@p.R98L 1 0.141342756 ENSG00000105388 chr19:41709908-41709908;G/T missense_variant False CEACAM5@p.R190T 1 0.321656051 ENSG00000105388 chr19:41715115-41715115;G/C missense_variant False CEACAM5@p.I597F 1 0.148325359 ENSG00000105388 chr19:41720939-41720939;A/T missense_variant False CEACAM5@p.E338K 1 0.102803738 ENSG00000105388 chr19:41717508-41717508;G/A missense_variant False CEACAM21@p.P8S 1 0.093023256 ENSG00000007129 chr19:41576296-41576296;C/T missense_variant False CEACAM4@p.R98Q 1 0.26984127 ENSG00000105352 chr19:41625732-41625732;C/T missense_variant False CEACAM4@p.A117S 1 0.272727273 ENSG00000105352 chr19:41625676-41625676;C/A missense_variant False CEACAM3@p.R98Q 1 0.102803738 ENSG00000170956 chr19:41797817-41797817;G/A missense_variant False CEACAM3@p.Q87E 1 0.656957929 ENSG00000170956 chr19:41797783-41797783;C/G missense_variant False CEACAM21@p.S40L 1 0.365853659 ENSG00000007129 chr19:41577254-41577254;C/T missense_variant False CEACAM21@p.S135C 1 0.25 ENSG00000007129 chr19:41577539-41577539;C/G missense_variant False CDSN@p.L176V 1 1.0 ENSG00000204539 chr6:31117089-31117089;G/C missense_variant False CDS2@p.V395I 1 0.136690647 ENSG00000101290 chr20:5189816-5189816;G/A missense_variant False CDS2@p.S21L 1 0.117647059 ENSG00000101290 chr20:5173527-5173527;C/T missense_variant False CDO1@p.L125F 1 0.470149254 ENSG00000129596 chr5:115811189-115811189;C/G missense_variant False CDON@p.K134E 1 0.364485981 ENSG00000064309 chr11:126019715-126019715;T/C missense_variant False CDON@p.H1088Y 1 0.26446281 ENSG00000064309 chr11:125981063-125981063;G/A missense_variant False CDON@p.E909A 1 0.042857143 ENSG00000064309 chr11:125989684-125989684;T/G missense_variant False CDON@p.E466K 1 0.082278481 ENSG00000064309 chr11:126010497-126010497;C/T missense_variant False CDON@p.E132Q 1 0.157232704 ENSG00000064309 chr11:126019721-126019721;C/G missense_variant False CDON@p.E1241K 1 0.333333333 ENSG00000064309 chr11:125961085-125961085;C/T missense_variant False CDO1@p.D14N 1 0.256410256 ENSG00000129596 chr5:115816358-115816358;C/T missense_variant False CDS1@p.S77F 1 0.071428571 ENSG00000163624 chr4:84604355-84604355;C/T missense_variant False CDNF@p.E66Q 1 0.19266055 ENSG00000185267 chr10:14828192-14828192;C/G missense_variant False CDKN3@p.G142V 1 0.1875 ENSG00000100526 chr14:54415907-54415907;G/T missense_variant False CDKN2D@p.D104N 1 0.25974026 ENSG00000129355 chr19:10567249-10567249;C/T missense_variant False CDKN2C@p.G103E 1 0.238095238 ENSG00000123080 chr1:50974071-50974071;G/A missense_variant False CDKN2B@p.R123W 1 0.318181818 ENSG00000147883 chr9:22006037-22006037;G/A missense_variant False CDKN2B@p.E28Q 1 0.357142857 ENSG00000147883 chr9:22008872-22008872;C/G missense_variant False CDON@p.S123L 1 0.3125 ENSG00000064309 chr11:126019747-126019747;G/A missense_variant False CDON@p.S899C 1 0.301369863 ENSG00000064309 chr11:125989714-125989714;G/C missense_variant False CDON@p.Y738C 1 0.12 ENSG00000064309 chr11:125997356-125997356;T/C missense_variant False CDPF1@p.P49S 1 0.157894737 ENSG00000205643 chr22:46247190-46247190;G/A missense_variant False CDR1@p.D18N 1 0.274611399 ENSG00000288642 chrX:140784315-140784315;C/T missense_variant False CDR1@p.P14H 1 0.057971014 ENSG00000288642 chrX:140784326-140784326;G/T missense_variant False CDR1@p.R169G 1 0.193641618 ENSG00000288642 chrX:140783862-140783862;G/C missense_variant False CDR1@p.S70L 1 0.467532468 ENSG00000288642 chrX:140784158-140784158;G/A missense_variant False CDR2@p.D441H 1 0.22556391 ENSG00000140743 chr16:22347009-22347009;C/G missense_variant False CDR2L@p.H75L 1 0.339285714 ENSG00000109089 chr17:75001372-75001372;A/T missense_variant False CDRT1@p.G323D 1 0.217948718 None chr17:15613646-15613646;C/T missense_variant False CDRT1@p.N346K 1 0.464285714 None chr17:15612785-15612785;A/C missense_variant False CDRT1@p.S104F 1 0.452830189 None chr17:15619202-15619202;G/A missense_variant False CDRT4@p.E45Q 1 0.079365079 ENSG00000239704 chr17:15438099-15438099;C/G missense_variant False CDS1@p.F263L 1 0.145454545 ENSG00000163624 chr4:84635330-84635330;T/G missense_variant False CDS1@p.I43V 1 0.194444444 ENSG00000163624 chr4:84604252-84604252;A/G missense_variant False CDS1@p.S247L 1 0.290322581 ENSG00000163624 chr4:84635281-84635281;C/T missense_variant False CEACAM6@p.E170Q 1 0.165322581 ENSG00000086548 chr19:41761332-41761332;G/C missense_variant False CEACAM6@p.I149M 1 0.169724771 ENSG00000086548 chr19:41761271-41761271;C/G missense_variant False CEACAM6@p.Q218H 1 0.367588933 ENSG00000086548 chr19:41761478-41761478;G/C missense_variant False CELA2B@p.L169P 1 0.273972603 ENSG00000215704 chr1:15485913-15485913;T/C missense_variant False CELF2@p.E421Q 1 0.229166667 ENSG00000048740 chr10:11325841-11325841;G/C missense_variant False CELF1@p.G400E 1 0.090909091 ENSG00000149187 chr11:47473222-47473222;C/T missense_variant False CELA3B@p.E49K 1 0.212121212 ENSG00000219073 chr1:21980839-21980839;G/A missense_variant False CELA3B@p.A205D 1 0.102803738 ENSG00000219073 chr1:21984303-21984303;C/A missense_variant False CELA2B@p.V131I 1 0.333333333 ENSG00000215704 chr1:15483298-15483298;G/A missense_variant False CELA2B@p.L69V 1 0.189189189 ENSG00000215704 chr1:15481173-15481173;C/G missense_variant False CELA2A@p.S45F 1 0.238095238 ENSG00000142615 chr1:15461565-15461565;C/T missense_variant False CECR2@p.S791C 1 0.12962963 ENSG00000099954 chr22:17542455-17542455;C/G missense_variant False CELA1@p.G231S 1 0.382352941 ENSG00000139610 chr12:51329752-51329752;C/T missense_variant False CELA1@p.D84A 1 0.16 ENSG00000139610 chr12:51342650-51342650;T/G missense_variant False CEL@p.E735K 1 0.486111111 ENSG00000170835 chr9:133071696-133071696;G/A missense_variant False CEL@p.D557N 1 0.093023256 ENSG00000170835 chr9:133071162-133071162;G/A missense_variant False CEL@p.D460N 1 0.192982456 ENSG00000170835 chr9:133070543-133070543;G/A missense_variant False CEL@p.D460H 1 0.313333333 ENSG00000170835 chr9:133070543-133070543;G/C missense_variant False CELF2@p.G346V 1 0.346774194 ENSG00000048740 chr10:11314220-11314220;G/T missense_variant False CELF2@p.M10I 1 0.251612903 ENSG00000048740 chr10:11005417-11005417;G/A missense_variant False CELF2@p.M192I 1 0.130434783 ENSG00000048740 chr10:11266656-11266656;G/A missense_variant False CELF2@p.Q186H 1 0.555555556 ENSG00000048740 chr10:11266638-11266638;G/C missense_variant False CELF3@p.E116Q 1 0.079646018 ENSG00000159409 chr1:151709280-151709280;C/G missense_variant False CELF3@p.N78Y 1 0.266666667 ENSG00000159409 chr1:151709788-151709788;T/A missense_variant False CELF3@p.R128W 1 0.28057554 ENSG00000159409 chr1:151709244-151709244;G/A missense_variant False CELF3@p.R374T 1 0.15625 ENSG00000159409 chr1:151706229-151706229;C/G missense_variant False CELF4@p.E419Q 1 0.25 ENSG00000101489 chr18:37259259-37259259;C/G missense_variant False CELF4@p.F57L 1 0.4 ENSG00000101489 chr18:37565471-37565471;G/T missense_variant False CELF4@p.I425M 1 0.413793103 ENSG00000101489 chr18:37259239-37259239;G/C missense_variant False CELF4@p.R126W 1 0.390625 ENSG00000101489 chr18:37321875-37321875;G/A missense_variant False CELF4@p.T313N 1 0.523255814 ENSG00000101489 chr18:37273027-37273027;G/T missense_variant False CELF5@p.A105V 1 0.203539823 ENSG00000161082 chr19:3251039-3251039;C/T missense_variant False CELF5@p.F154L 1 0.573170732 ENSG00000161082 chr19:3275923-3275923;C/G missense_variant False CELSR1@p.A2616V 1 0.176470588 ENSG00000075275 chr22:46369717-46369717;G/A missense_variant False CELSR1@p.A2727T 1 0.416666667 ENSG00000075275 chr22:46367019-46367019;C/T missense_variant False CEL@p.A202V 1 0.234463277 ENSG00000170835 chr9:133066587-133066587;C/T missense_variant False CECR2@p.S1047L 1 0.333333333 ENSG00000099954 chr22:17548367-17548367;C/T missense_variant False CEACAM7@p.A75S 1 0.171171171 ENSG00000007306 chr19:41687063-41687063;C/A missense_variant False CEACAM8@p.L129I 1 0.469135802 ENSG00000124469 chr19:42593580-42593580;G/T missense_variant False CEBPZ@p.D327H 1 0.389705882 ENSG00000115816 chr2:37228214-37228214;C/G missense_variant False CEBPZ@p.D24H 1 0.256944444 ENSG00000115816 chr2:37231498-37231498;C/G missense_variant False CEBPG@p.Y65H 1 0.142857143 ENSG00000153879 chr19:33379432-33379432;T/C missense_variant False CEBPB@p.M24V 1 0.111111111 ENSG00000172216 chr20:50191103-50191103;A/G missense_variant False CEBPA@p.I294N 1 0.230769231 ENSG00000245848 chr19:33301534-33301534;A/T missense_variant True CEBPA@p.E290K 1 0.325581395 ENSG00000245848 chr19:33301547-33301547;C/T missense_variant True CEACAM8@p.E50Q 1 0.388888889 ENSG00000124469 chr19:42593817-42593817;C/G missense_variant False CECR2@p.R163Q 1 0.361702128 ENSG00000099954 chr22:17499492-17499492;G/A missense_variant False CEACAM8@p.E47K 1 0.474103586 ENSG00000124469 chr19:42593826-42593826;C/T missense_variant False CEACAM8@p.D159N 1 0.283185841 ENSG00000124469 chr19:42589685-42589685;C/T missense_variant False CEACAM7@p.T207A 1 0.28627451 ENSG00000007306 chr19:41683872-41683872;T/C missense_variant False CEACAM7@p.R10T 1 0.245901639 ENSG00000007306 chr19:41688137-41688137;C/G missense_variant False CEACAM7@p.L203I 1 0.049689441 ENSG00000007306 chr19:41683884-41683884;G/T missense_variant False CEACAM7@p.E217K 1 0.208860759 ENSG00000007306 chr19:41683842-41683842;C/T missense_variant False CEBPZ@p.E171D 1 0.163265306 ENSG00000115816 chr2:37228680-37228680;C/G missense_variant False CEBPZ@p.E23Q 1 0.385714286 ENSG00000115816 chr2:37231501-37231501;C/G missense_variant False CEBPZ@p.E456K 1 0.162162162 ENSG00000115816 chr2:37227827-37227827;C/T missense_variant False CEBPZ@p.E653Q 1 0.254545455 ENSG00000115816 chr2:37222488-37222488;C/G missense_variant False CEBPZ@p.E661Q 1 0.441176471 ENSG00000115816 chr2:37222464-37222464;C/G missense_variant False CEBPZ@p.E846Q 1 0.4 ENSG00000115816 chr2:37213873-37213873;C/G missense_variant False CEBPZ@p.E909D 1 0.140350877 ENSG00000115816 chr2:37211916-37211916;T/G missense_variant False CEBPZ@p.G180A 1 0.212389381 ENSG00000115816 chr2:37228654-37228654;C/G missense_variant False CEBPZ@p.H626Y 1 0.452380952 ENSG00000115816 chr2:37223175-37223175;G/A missense_variant False CEBPZ@p.K1041N 1 0.341463415 ENSG00000115816 chr2:37201806-37201806;C/G missense_variant False CEBPZ@p.R326K 1 0.287356322 ENSG00000115816 chr2:37228216-37228216;C/T missense_variant False CECR2@p.D1008N 1 0.19047619 ENSG00000099954 chr22:17548249-17548249;G/A missense_variant False CECR2@p.D1482H 1 0.456140351 ENSG00000099954 chr22:17552137-17552137;G/C missense_variant False CECR2@p.E709K 1 0.2 ENSG00000099954 chr22:17542208-17542208;G/A missense_variant False CECR2@p.E94Q 1 0.2 ENSG00000099954 chr22:17497461-17497461;G/C missense_variant False CECR2@p.G1079R 1 0.25974026 ENSG00000099954 chr22:17548462-17548462;G/A missense_variant False CECR2@p.G895E 1 0.184210526 ENSG00000099954 chr22:17542767-17542767;G/A missense_variant False CDKN2AIPNL@p.E97Q 1 0.47826087 ENSG00000237190 chr5:134409953-134409953;C/G missense_variant False CDKN2AIP@p.E553K 1 0.280373832 ENSG00000168564 chr4:183447341-183447341;G/A missense_variant False CDKN2AIP@p.E487Q 1 0.116071429 ENSG00000168564 chr4:183447143-183447143;G/C missense_variant False CDK5RAP2@p.H1571L 1 0.506666667 ENSG00000136861 chr9:120408361-120408361;T/A missense_variant False CDK5RAP3@p.A210T 1 0.817204301 ENSG00000108465 chr17:47975628-47975628;G/A missense_variant False CDK5RAP2@p.Y626C 1 0.2 ENSG00000136861 chr9:120470202-120470202;T/C missense_variant False CDK5RAP2@p.S1804L 1 0.472527473 ENSG00000136861 chr9:120400782-120400782;G/A missense_variant False CDK5RAP2@p.R1517T 1 0.098591549 ENSG00000136861 chr9:120409181-120409181;C/G missense_variant False CDK5RAP2@p.Q1392E 1 0.12605042 ENSG00000136861 chr9:120419791-120419791;G/C missense_variant False CDK5RAP2@p.P692A 1 0.824561404 ENSG00000136861 chr9:120467892-120467892;G/C missense_variant False CDK5RAP2@p.E132K 1 0.290697674 ENSG00000136861 chr9:120539154-120539154;C/T missense_variant False CDK5R1@p.E18K 1 0.206185567 ENSG00000176749 chr17:32487672-32487672;G/A missense_variant False CDK5RAP1@p.S598C 1 0.137614679 ENSG00000101391 chr20:33359056-33359056;G/C missense_variant False CDK5RAP1@p.M554I 1 0.257142857 ENSG00000101391 chr20:33360414-33360414;C/T missense_variant False CDK5RAP1@p.M476I 1 0.284552846 ENSG00000101391 chr20:33370505-33370505;C/T missense_variant False CDK5RAP1@p.E553Q 1 0.053191489 ENSG00000101391 chr20:33360419-33360419;C/G missense_variant False CDK5R2@p.T232K 1 0.823529412 ENSG00000171450 chr2:218960515-218960515;C/A missense_variant False CDK5R2@p.R106H 1 0.615384615 ENSG00000171450 chr2:218960137-218960137;G/A missense_variant False CDK5RAP3@p.S286F 1 0.366197183 ENSG00000108465 chr17:47976770-47976770;C/T missense_variant False CDK6@p.E18K 1 0.515151515 ENSG00000105810 chr7:92833272-92833272;C/T missense_variant False CDK6@p.E18Q 1 0.129032258 ENSG00000105810 chr7:92833272-92833272;C/G missense_variant False CDK6@p.I122M 1 0.393442623 ENSG00000105810 chr7:92774699-92774699;T/C missense_variant False CDK6@p.L130I 1 0.053030303 ENSG00000105810 chr7:92725775-92725775;G/T missense_variant False CDK7@p.D267N 1 0.458333333 ENSG00000134058 chr5:69272976-69272976;G/A missense_variant False CDK7@p.E234K 1 0.337837838 ENSG00000134058 chr5:69269279-69269279;G/A missense_variant False CDK7@p.R309K 1 0.382352941 ENSG00000134058 chr5:69276604-69276604;G/A missense_variant False CDK7@p.R30T 1 0.253521127 ENSG00000134058 chr5:69235416-69235416;G/C missense_variant False CDK7@p.R57T 1 0.186046512 ENSG00000134058 chr5:69254611-69254611;G/C missense_variant False CDK8@p.D103N 1 0.247787611 ENSG00000132964 chr13:26349174-26349174;G/A missense_variant False CDK8@p.D266H 1 0.375 ENSG00000132964 chr13:26396290-26396290;G/C missense_variant False CDK8@p.G30C 1 0.4 ENSG00000132964 chr13:26254729-26254729;G/T missense_variant False CDK8@p.L142M 1 0.694214876 ENSG00000132964 chr13:26353848-26353848;C/A missense_variant False CDK8@p.R150T 1 0.140350877 ENSG00000132964 chr13:26353873-26353873;G/C missense_variant False CDK8@p.R71G 1 0.274336283 ENSG00000132964 chr13:26349078-26349078;C/G missense_variant False CDK9@p.A166V 1 0.5625 ENSG00000136807 chr9:127788278-127788278;C/T missense_variant False CDK5R1@p.S263C 1 0.128712871 ENSG00000176749 chr17:32488408-32488408;C/G missense_variant False CDK5@p.L32V 1 0.065789474 ENSG00000164885 chr7:151057104-151057104;G/C missense_variant False CDK9@p.E369Q 1 0.08411215 ENSG00000136807 chr9:127789529-127789529;G/C missense_variant False CDK16@p.D22E 1 0.3 ENSG00000102225 chrX:47223623-47223623;C/A missense_variant False CDK17@p.E222K 1 0.4 ENSG00000059758 chr12:96298920-96298920;C/T missense_variant False CDK17@p.D155N 1 0.176470588 ENSG00000059758 chr12:96311132-96311132;C/T missense_variant False CDK16@p.S86L 1 0.375 ENSG00000102225 chrX:47224439-47224439;C/T missense_variant False CDK16@p.M4I 1 0.541666667 ENSG00000102225 chrX:47223569-47223569;G/A missense_variant False CDK16@p.G45E 1 0.666666667 ENSG00000102225 chrX:47223691-47223691;G/A missense_variant False CDK16@p.E46K 1 0.75 ENSG00000102225 chrX:47223693-47223693;G/A missense_variant False CDK15@p.S279C 1 0.260869565 ENSG00000138395 chr2:201835748-201835748;C/G missense_variant False CDK5@p.L281_P284del 1 0.285714286 ENSG00000164885 chr7:151054036-151054047;GGGGTGCTGCAG/- inframe_deletion False CDK15@p.L156F 1 0.195876289 ENSG00000138395 chr2:201822828-201822828;G/C missense_variant False CDK15@p.K369N 1 0.243589744 ENSG00000138395 chr2:201880076-201880076;A/C missense_variant False CDK15@p.G273E 1 0.357142857 ENSG00000138395 chr2:201835730-201835730;G/A missense_variant False CDK15@p.F176L 1 0.361344538 ENSG00000138395 chr2:201822888-201822888;C/G missense_variant False CDK15@p.A246T 1 0.444444444 ENSG00000138395 chr2:201835648-201835648;G/A missense_variant False CDK15@p.A186T 1 0.447916667 ENSG00000138395 chr2:201823677-201823677;G/A missense_variant False CDK17@p.E465K 1 0.278481013 ENSG00000059758 chr12:96282572-96282572;C/T missense_variant False CDK17@p.I132V 1 0.296296296 ENSG00000059758 chr12:96313344-96313344;T/C missense_variant False CDK17@p.R6S 1 0.260869565 ENSG00000059758 chr12:96334819-96334819;T/A missense_variant False CDK18@p.M6I 1 0.138461538 ENSG00000117266 chr1:205523185-205523185;G/T missense_variant False CDK19@p.R112C 1 0.181818182 ENSG00000155111 chr6:110667556-110667556;G/A missense_variant False CDK1@p.M85T 1 0.30625 ENSG00000170312 chr10:60785723-60785723;T/C missense_variant False CDK20@p.E211K 1 0.093457944 ENSG00000156345 chr9:87969852-87969852;C/T missense_variant False CDK20@p.G200V 1 0.368421053 ENSG00000156345 chr9:87969884-87969884;C/A missense_variant False CDK2@p.D68N 1 0.123076923 ENSG00000123374 chr12:55968056-55968056;G/A missense_variant False CDK2AP2@p.G39A 1 0.151515152 ENSG00000167797 chr11:67507656-67507656;C/G missense_variant False CDK3@p.E73Q 1 0.173469388 ENSG00000250506 chr17:76002044-76002044;G/C missense_variant False CDK3@p.E98K 1 0.131868132 ENSG00000250506 chr17:76002119-76002119;G/A missense_variant False CDK3@p.R169C 1 0.333333333 ENSG00000250506 chr17:76002529-76002529;C/T missense_variant False CDK3@p.T221Sfs*111 1 0.092783505 ENSG00000250506 chr17:76003263-76003290;GGGGACACCCAGCGAAGACACATGGCCC/- frameshift_variant False CDK4@p.E94K 1 0.134328358 ENSG00000135446 chr12:57751281-57751281;C/T missense_variant False CDK4@p.R163K 1 0.333333333 ENSG00000135446 chr12:57750957-57750957;C/T missense_variant False CDK5@p.A31T 1 0.25862069 ENSG00000164885 chr7:151057107-151057107;C/T missense_variant False CDK9@p.D318N 1 0.711864407 ENSG00000136807 chr9:127789376-127789376;G/A missense_variant False CDK9@p.L81F 1 0.125 ENSG00000136807 chr9:127787586-127787586;G/C missense_variant False CDKN2AIP@p.E147K 1 0.805555556 ENSG00000168564 chr4:183446123-183446123;G/A missense_variant False CDKN1A@p.V111Cfs*18 1 0.357142857 ENSG00000124762 chr6:36684430-36684431;-/T frameshift_variant False CDKN1B@p.S7C 1 0.402234637 ENSG00000111276 chr12:12717859-12717859;C/G missense_variant False CDKN1B@p.K81Nfs*45 1 0.465838509 ENSG00000111276 chr12:12718081-12718082;-/TTCT frameshift_variant False CDKN1B@p.G9W 1 0.315789474 ENSG00000111276 chr12:12717864-12717864;G/T missense_variant False CDKN1B@p.E71Vfs*49 1 0.141025641 ENSG00000111276 chr12:12718049-12718062;AGAGGGCAAGTACG/- frameshift_variant False CDKN1A@p.W65* 1 0.296296296 ENSG00000124762 chr6:36684295-36684308;GGGAGCGTGTGCGG/A frameshift_variant False CDKN1A@p.V25Sfs*11 1 0.363636364 ENSG00000124762 chr6:36684167-36684168;-/G frameshift_variant False CDKN1A@p.T80Hfs*9 1 0.611111111 ENSG00000124762 chr6:36684335-36684336;-/C frameshift_variant False CDKN1A@p.R46Pfs*2 1 0.391304348 ENSG00000124762 chr6:36684234-36684235;-/C frameshift_variant False CDKN1A@p.S27Kfs*9 1 0.28 ENSG00000124762 chr6:36684179-36684180;-/A frameshift_variant False CDKN1A@p.S15Rfs*18 1 0.846153846 ENSG00000124762 chr6:36684146-36684153;CAAGGCCT/- frameshift_variant False CDKN1A@p.R84Vfs*40 1 0.3125 ENSG00000124762 chr6:36684349-36684362;GGCGAGGCCGGGAT/- frameshift_variant False CDKN1A@p.R84Gfs*2 1 0.161290323 ENSG00000124762 chr6:36684350-36684357;GCGAGGCC/- frameshift_variant False CDKN1A@p.R83Pfs*6 1 0.2 ENSG00000124762 chr6:36684344-36684345;-/C frameshift_variant False CDKN1A@p.R83Pfs*3 1 0.24137931 ENSG00000124762 chr6:36684348-36684355;CGGCGAGG/- frameshift_variant False CDKN2A@p.A102Rfs*14 1 0.4 ENSG00000147889 chr9:21971049-21971059;GCCGCGCCCCG/- frameshift_variant True CDKN2A@p.A102Rfs*19 1 0.333333333 ENSG00000147889 chr9:21971056-21971057;-/CCGG frameshift_variant True CDKN2A@p.A40Gfs*7 1 0.330434783 ENSG00000147889 chr9:21974691-21974709;CGACCGTAACTATTCGGTG/- frameshift_variant True CDKN2A@p.D84N 1 0.95 ENSG00000147889 chr9:21971109-21971109;C/T missense_variant True CDKN2A@p.E119K 1 0.388888889 ENSG00000147889 chr9:21971004-21971004;C/T missense_variant True CDKN2A@p.E61K 1 0.321428571 ENSG00000147889 chr9:21971178-21971178;C/T missense_variant True CDKN2A@p.F90Lfs*30 1 0.55 ENSG00000147889 chr9:21971092-21971093;-/C frameshift_variant True CDKN2A@p.G89Lfs*30 1 0.8 ENSG00000147889 chr9:21971093-21971094;CC/- frameshift_variant True CDKN2A@p.L31V 1 0.454545455 ENSG00000147889 chr9:21974737-21974737;G/C missense_variant True CDKN2A@p.L97Rfs*19 1 0.1875 ENSG00000147889 chr9:21971059-21971069;GGCCCGGTGCA/- frameshift_variant True CDKN2A@p.M53I 1 0.351351351 ENSG00000147889 chr9:21971200-21971200;C/A missense_variant True CDKN2A@p.N42Rfs*75 1 0.281553398 ENSG00000147889 chr9:21974698-21974705;AACTATTC/- frameshift_variant True CDKN2A@p.P114T 1 0.32 ENSG00000147889 chr9:21971019-21971019;G/T missense_variant True CDKN2A@p.P48L 1 0.442028986 ENSG00000147889 chr9:21974685-21974685;G/A missense_variant True CDKN2A@p.R24G 1 0.533333333 ENSG00000147889 chr9:21974758-21974758;G/C missense_variant True CDKN2A@p.S12L 1 0.181818182 ENSG00000147889 chr9:21974793-21974793;G/A missense_variant True CDKN2A@p.V82M 1 0.5 ENSG00000147889 chr9:21971115-21971115;C/T missense_variant True CDKN1A@p.R48P 1 0.333333333 ENSG00000124762 chr6:36684244-36684244;G/C missense_variant False CDKN1A@p.P12Hfs*19 1 0.391304348 ENSG00000124762 chr6:36684134-36684134;C/- frameshift_variant False CDKAL1@p.A557V 1 0.170212766 ENSG00000145996 chr6:21230969-21230969;C/T missense_variant False CDKL2@p.K231E 1 0.164179104 ENSG00000138769 chr4:75603921-75603921;T/C missense_variant False CDKL5@p.T803K 1 0.433121019 ENSG00000008086 chrX:18625159-18625159;C/A missense_variant False CDKL5@p.Q298E 1 0.111111111 ENSG00000008086 chrX:18598528-18598528;C/G missense_variant False CDKL4@p.R215Sfs*2 1 0.203703704 ENSG00000205111 chr2:39190309-39190312;TGTT/- frameshift_variant False CDKL3@p.S177C 1 0.5 ENSG00000273345 chr5:134350258-134350258;G/C missense_variant False CDKL3@p.E507Q 1 0.194444444 ENSG00000273345 chr5:134304507-134304507;C/G missense_variant False CDKL2@p.K316N 1 0.131147541 ENSG00000138769 chr4:75598149-75598149;T/A missense_variant False CDKL2@p.I243M 1 0.065934066 ENSG00000138769 chr4:75603883-75603883;G/C missense_variant False CDKN1A@p.L73Pfs*16 1 0.25 ENSG00000124762 chr6:36684316-36684317;-/C frameshift_variant False CDKL1@p.E91K 1 0.261410788 ENSG00000100490 chr14:50359050-50359050;C/T missense_variant False CDKAL1@p.Q457E 1 0.375 ENSG00000145996 chr6:21198090-21198090;C/G missense_variant False CDKAL1@p.N113Kfs*4 1 0.342465753 ENSG00000145996 chr6:20649338-20649339;-/A frameshift_variant False CDKAL1@p.K473N 1 0.214765101 ENSG00000145996 chr6:21201145-21201145;G/C missense_variant False CDKAL1@p.G523R 1 0.059139785 ENSG00000145996 chr6:21230866-21230866;G/A missense_variant False CDKAL1@p.D240N 1 0.289156627 ENSG00000145996 chr6:20846154-20846154;G/A missense_variant False CDKN1A@p.A45Gfs*104 1 0.204081633 ENSG00000124762 chr6:36684232-36684233;-/GG frameshift_variant False CDKN1A@p.A45Gfs*3 1 0.144927536 ENSG00000124762 chr6:36684232-36684233;-/G frameshift_variant False CDKN1A@p.D136H 1 0.086956522 ENSG00000124762 chr6:36684507-36684507;G/C missense_variant False CDKN1A@p.D7Mfs*24 1 0.24 ENSG00000124762 chr6:36684117-36684117;G/- frameshift_variant False CDKN1A@p.E128K 1 0.592592593 ENSG00000124762 chr6:36684483-36684483;G/A missense_variant False CDKN1A@p.E3Gfs*33 1 0.428571429 ENSG00000124762 chr6:36684107-36684108;-/G frameshift_variant False CDKN1A@p.E56K 1 0.151162791 ENSG00000124762 chr6:36684267-36684267;G/A missense_variant False CDKN1A@p.E66Gfs*23 1 0.27027027 ENSG00000124762 chr6:36684294-36684295;-/G frameshift_variant False CDKN1A@p.E88K 1 1.0 ENSG00000124762 chr6:36684363-36684363;G/A missense_variant False CDKN1A@p.F63Lfs*85 1 0.245283019 ENSG00000124762 chr6:36684290-36684290;C/- frameshift_variant False CDKN1A@p.G132C 1 0.270833333 ENSG00000124762 chr6:36684495-36684495;G/T missense_variant False CDKN1A@p.G40Afs*108 1 0.593220339 ENSG00000124762 chr6:36684218-36684218;G/- frameshift_variant False CDKN1A@p.G61V 1 0.3125 ENSG00000124762 chr6:36684283-36684283;G/T missense_variant False CDKN1A@p.G85* 1 0.192307692 ENSG00000124762 chr6:36684352-36684359;GAGGCCGG/- frameshift_variant False CDKN1A@p.K16Gfs*19 1 0.518987342 ENSG00000124762 chr6:36684147-36684148;AA/- frameshift_variant False CDKN1A@p.K16Rfs*15 1 0.285714286 ENSG00000124762 chr6:36684147-36684147;A/- frameshift_variant False CDKN1A@p.L59Pfs*84 1 0.243902439 ENSG00000124762 chr6:36684276-36684291;CTGGAGGGTGACTTCG/- frameshift_variant False CPEB1@p.L149P 1 0.070707071 ENSG00000214575 chr15:82571457-82571457;A/G missense_variant False CPEB1@p.P582S 1 0.448484848 ENSG00000214575 chr15:82546467-82546467;G/A missense_variant False MIA3@p.S1553L 1 0.416058394 ENSG00000154305 chr1:222658772-222658772;C/T missense_variant False DMD@p.L2881V 1 0.727272727 ENSG00000198947 chrX:31479010-31479010;G/C missense_variant False DMD@p.Q886E 1 0.202898551 ENSG00000198947 chrX:32485066-32485066;G/C missense_variant False DMD@p.Q1373K 1 0.4375 ENSG00000198947 chrX:32411868-32411868;G/T missense_variant False DMD@p.Q1233H 1 0.408163265 ENSG00000198947 chrX:32448543-32448543;T/G missense_variant False DMD@p.M1983I 1 0.382352941 ENSG00000198947 chrX:32310250-32310250;C/A missense_variant False DMD@p.L989P 1 0.212121212 ENSG00000198947 chrX:32468694-32468694;A/G missense_variant False DMD@p.L402Ffs*5 1 0.346938776 ENSG00000198947 chrX:32644256-32644257;CC/A frameshift_variant False DMD@p.L2416F 1 0.344262295 ENSG00000198947 chrX:31820036-31820036;T/A missense_variant False DMD@p.R2108H 1 0.538461538 ENSG00000198947 chrX:32217031-32217031;C/T missense_variant False DMD@p.L2038V 1 0.737704918 ENSG00000198947 chrX:32310087-32310087;G/C missense_variant False DMD@p.K2732N 1 0.161016949 ENSG00000198947 chrX:31627694-31627694;T/G missense_variant False DMD@p.H1690Q 1 0.8125 ENSG00000198947 chrX:32364666-32364666;G/T missense_variant False DMD@p.F647S 1 0.862745098 ENSG00000198947 chrX:32565754-32565754;A/G missense_variant False DMD@p.E739K 1 0.050847458 ENSG00000198947 chrX:32518085-32518085;C/T missense_variant False DMD@p.E419K 1 0.844311377 ENSG00000198947 chrX:32644208-32644208;C/T missense_variant False DMD@p.R1439S 1 0.30952381 ENSG00000198947 chrX:32390098-32390098;T/A missense_variant False DMD@p.R2631C 1 0.186915888 ENSG00000198947 chrX:31658126-31658126;G/A missense_variant False DMXL2@p.L2866V 1 0.336363636 ENSG00000104093 chr15:51453584-51453584;G/C missense_variant False DMKN@p.G158E 1 0.178571429 ENSG00000161249 chr19:35512744-35512744;C/T missense_variant False DMRT1@p.K148N 1 0.714285714 ENSG00000137090 chr9:847049-847049;A/C missense_variant False DMRT1@p.H18Q 1 0.409090909 ENSG00000137090 chr9:841892-841892;C/G missense_variant False DMPK@p.F278L 1 0.322709163 ENSG00000104936 chr19:45777715-45777715;G/C missense_variant False DMPK@p.E35Q 1 0.461538462 ENSG00000104936 chr19:45782250-45782250;C/G missense_variant False DMP1@p.G512V 1 0.285714286 ENSG00000152592 chr4:87663313-87663313;G/T missense_variant False DMKN@p.R297I 1 0.103448276 ENSG00000161249 chr19:35511439-35511439;C/A missense_variant False DMGDH@p.R153Q 1 0.5 ENSG00000132837 chr5:79054266-79054266;C/T missense_variant False DMD@p.R550S 1 0.296296296 ENSG00000198947 chrX:32573801-32573801;G/T missense_variant False DMGDH@p.P38T 1 0.472222222 ENSG00000132837 chr5:79063777-79063777;G/T missense_variant False DMGDH@p.L657V 1 0.31372549 ENSG00000132837 chr5:79028496-79028496;G/C missense_variant False DMGDH@p.K811N 1 0.368421053 ENSG00000132837 chr5:78998250-78998250;C/G missense_variant False DMD@p.V582E 1 0.205479452 ENSG00000198947 chrX:32573597-32573597;A/T missense_variant False DMD@p.S357Y 1 0.901408451 ENSG00000198947 chrX:32645043-32645043;G/T missense_variant False DMD@p.S1876F 1 0.108108108 ENSG00000198947 chrX:32343246-32343246;G/A missense_variant False DMD@p.E3561Q 1 0.121495327 ENSG00000198947 chrX:31147391-31147391;C/G missense_variant False DMD@p.E2194Q 1 0.166666667 ENSG00000198947 chrX:31968373-31968373;C/G missense_variant False DMD@p.E1960Q 1 0.976190476 ENSG00000198947 chrX:32342144-32342144;C/G missense_variant False DMAP1@p.E243K 1 0.771428571 ENSG00000178028 chr1:44219062-44219062;G/A missense_variant False DMBT1@p.S1893L 1 0.152542373 ENSG00000187908 chr10:122629849-122629849;C/T missense_variant False DMBT1@p.S1789F 1 0.311111111 ENSG00000187908 chr10:122621138-122621138;C/T missense_variant False DMBT1@p.G305R 1 0.488188976 ENSG00000187908 chr10:122579811-122579811;G/A missense_variant False DMBT1@p.E2108K 1 0.184210526 ENSG00000187908 chr10:122631257-122631257;G/A missense_variant False DMBT1@p.D97Y 1 0.169354839 ENSG00000187908 chr10:122576404-122576404;G/T missense_variant False DMBT1@p.D667E 1 0.538834951 ENSG00000187908 chr10:122589161-122589161;T/A missense_variant False DMAC2L@p.N181Ifs*15 1 0.316770186 ENSG00000125375 chr14:50325659-50325659;A/- frameshift_variant False DMD@p.E1601Q 1 0.048951049 ENSG00000198947 chrX:32380554-32380554;C/G missense_variant False DMAC2L@p.I156M 1 0.379310345 ENSG00000125375 chr14:50324096-50324096;C/G missense_variant False DMAC2@p.D51N 1 0.306122449 ENSG00000105341 chr19:41438282-41438282;C/T missense_variant False DMAC2@p.D208E 1 0.105263158 ENSG00000105341 chr19:41432381-41432381;G/T missense_variant False DMAC1@p.T14I 1 0.292682927 ENSG00000137038 chr9:7799694-7799694;G/A missense_variant False DLX6@p.G162R 1 0.21875 ENSG00000006377 chr7:97007685-97007685;G/A missense_variant False DLX4@p.F192L 1 0.444444444 ENSG00000108813 chr17:49973796-49973796;C/A missense_variant False DMBT1@p.S2276F 1 0.25 ENSG00000187908 chr10:122637197-122637197;C/T missense_variant False DMBT1@p.S2331L 1 0.508196721 ENSG00000187908 chr10:122640089-122640089;C/T missense_variant False DMBX1@p.A207V 1 0.304347826 ENSG00000197587 chr1:46511206-46511206;C/T missense_variant False DMBX1@p.D36N 1 0.12962963 ENSG00000197587 chr1:46507116-46507116;G/A missense_variant False DMBX1@p.D97E 1 0.434782609 ENSG00000197587 chr1:46510597-46510597;T/G missense_variant False DMBX1@p.E48K 1 0.186440678 ENSG00000197587 chr1:46507152-46507152;G/A missense_variant False DMBX1@p.L170V 1 0.170731707 ENSG00000197587 chr1:46511094-46511094;C/G missense_variant False DMBX1@p.P291L 1 0.192771084 ENSG00000197587 chr1:46512217-46512217;C/T missense_variant False DMBX1@p.R367Q 1 0.21978022 ENSG00000197587 chr1:46512445-46512445;G/A missense_variant False DMBX1@p.R49H 1 0.490909091 ENSG00000197587 chr1:46507156-46507156;G/A missense_variant False DMC1@p.E325K 1 0.240384615 ENSG00000100206 chr22:38520070-38520070;C/T missense_variant False DMC1@p.Q281E 1 0.276119403 ENSG00000100206 chr22:38521720-38521720;G/C missense_variant False DMD@p.A1942T 1 0.365384615 ENSG00000198947 chrX:32342198-32342198;C/T missense_variant False DMD@p.A2455V 1 0.090909091 ENSG00000198947 chrX:31774138-31774138;G/A missense_variant False DMD@p.D2405Y 1 0.875 ENSG00000198947 chrX:31820071-31820071;C/A missense_variant False DMD@p.E1206A 1 0.607142857 ENSG00000198947 chrX:32448625-32448625;T/G missense_variant False DMD@p.E1468A 1 0.083333333 ENSG00000198947 chrX:32389616-32389616;T/G missense_variant False DMRT1@p.P229S 1 0.683544304 ENSG00000137090 chr9:894058-894058;C/T missense_variant False DMRT1@p.S11C 1 0.307692308 ENSG00000137090 chr9:841870-841870;C/G missense_variant False DMRT1@p.S332C 1 0.829787234 ENSG00000137090 chr9:968012-968012;C/G missense_variant False DMXL1@p.I116V 1 0.53125 ENSG00000172869 chr5:119105240-119105240;A/G missense_variant False DMXL1@p.R1693T 1 0.12244898 ENSG00000172869 chr5:119166723-119166723;G/C missense_variant False DMXL1@p.P1302H 1 0.714285714 ENSG00000172869 chr5:119149732-119149732;C/A missense_variant False DMXL1@p.M3003I 1 0.143939394 ENSG00000172869 chr5:119247144-119247144;G/A missense_variant False DMXL1@p.M1775I 1 0.351351351 ENSG00000172869 chr5:119167791-119167791;G/C missense_variant False DMXL1@p.L2962V 1 0.451612903 ENSG00000172869 chr5:119247019-119247019;C/G missense_variant False DMXL1@p.L2530F 1 0.231884058 ENSG00000172869 chr5:119197799-119197799;C/T missense_variant False DMXL1@p.H2555Y 1 0.191358025 ENSG00000172869 chr5:119197874-119197874;C/T missense_variant False DMXL1@p.D2937N 1 0.734177215 ENSG00000172869 chr5:119244526-119244526;G/A missense_variant False DMXL1@p.H1138R 1 0.10989011 ENSG00000172869 chr5:119149240-119149240;A/G missense_variant False DMXL1@p.G862V 1 0.244444444 ENSG00000172869 chr5:119146852-119146852;G/T missense_variant False DMXL1@p.G77Efs*36 1 0.219512195 ENSG00000172869 chr5:119101950-119101950;G/- frameshift_variant False DMXL1@p.G41E 1 0.436363636 ENSG00000172869 chr5:119098013-119098013;G/A missense_variant False DMXL1@p.E1797Q 1 0.55 ENSG00000172869 chr5:119167855-119167855;G/C missense_variant False DMXL1@p.E1623Q 1 0.194444444 ENSG00000172869 chr5:119164671-119164671;G/C missense_variant False DMXL1@p.S1108Y 1 0.518292683 ENSG00000172869 chr5:119149150-119149150;C/A missense_variant False DMXL1@p.S1273F 1 0.095238095 ENSG00000172869 chr5:119149645-119149645;C/T missense_variant False DMXL1@p.S1601C 1 0.150684932 ENSG00000172869 chr5:119164606-119164606;C/G missense_variant False DMXL1@p.S916C 1 0.2 ENSG00000172869 chr5:119147306-119147306;C/G missense_variant False DMXL2@p.A924S 1 0.166666667 ENSG00000104093 chr15:51503028-51503028;C/A missense_variant False DMXL2@p.D1977H 1 0.270462633 ENSG00000104093 chr15:51481177-51481177;C/G missense_variant False DMXL2@p.D2501N 1 0.532608696 ENSG00000104093 chr15:51466200-51466200;C/T missense_variant False DMXL2@p.E1564K 1 0.433962264 ENSG00000104093 chr15:51495117-51495117;C/T missense_variant False DMXL2@p.E2026Q 1 0.071428571 ENSG00000104093 chr15:51481030-51481030;C/G missense_variant False DMXL2@p.E2106Q 1 0.28125 ENSG00000104093 chr15:51480790-51480790;C/G missense_variant False DMXL2@p.E2479K 1 0.364341085 ENSG00000104093 chr15:51466266-51466266;C/T missense_variant False DMXL2@p.E333Q 1 0.190082645 ENSG00000104093 chr15:51542441-51542441;C/G missense_variant False DMXL2@p.F1026L 1 0.043478261 ENSG00000104093 chr15:51500146-51500146;G/C missense_variant False DMXL2@p.G2754A 1 0.378378378 ENSG00000104093 chr15:51457338-51457338;C/G missense_variant False DMXL2@p.H2936N 1 0.166666667 ENSG00000104093 chr15:51450224-51450224;G/T missense_variant False DMXL2@p.K1913E 1 0.593406593 ENSG00000104093 chr15:51481369-51481369;T/C missense_variant False DMXL2@p.L2466V 1 0.196969697 ENSG00000104093 chr15:51466305-51466305;G/C missense_variant False DMXL1@p.E1234K 1 0.133802817 ENSG00000172869 chr5:119149527-119149527;G/A missense_variant False DMXL1@p.D1123H 1 0.320895522 ENSG00000172869 chr5:119149194-119149194;G/C missense_variant False DMRT2@p.D352G 1 0.350515464 ENSG00000173253 chr9:1056642-1056642;A/G missense_variant False DMRT3@p.V424A 1 0.258064516 ENSG00000064218 chr9:990857-990857;T/C missense_variant False DMRTB1@p.H17Y 1 0.1875 ENSG00000143006 chr1:53459502-53459502;C/T missense_variant False DMRTB1@p.E253Q 1 0.434782609 ENSG00000143006 chr1:53464643-53464643;G/C missense_variant False DMRTA1@p.S485Y 1 0.166666667 ENSG00000176399 chr9:22451850-22451850;C/A missense_variant False DMRTA1@p.S482F 1 0.192307692 ENSG00000176399 chr9:22451841-22451841;C/T missense_variant False DMRTA1@p.S39L 1 0.375 ENSG00000176399 chr9:22447181-22447181;C/T missense_variant False DMRTA1@p.P499T 1 0.842857143 ENSG00000176399 chr9:22451891-22451891;C/A missense_variant False DMRT3@p.S415F 1 0.482758621 ENSG00000064218 chr9:990830-990830;C/T missense_variant False DMWD@p.S433L 1 0.25 ENSG00000185800 chr19:45786198-45786198;G/A missense_variant False DMRT3@p.S236L 1 0.281690141 ENSG00000064218 chr9:990293-990293;C/T missense_variant False DMRT3@p.R434W 1 0.227272727 ENSG00000064218 chr9:990886-990886;C/T missense_variant False DMRT3@p.R335G 1 0.277777778 ENSG00000064218 chr9:990589-990589;C/G missense_variant False DMRT2@p.P271R 1 0.123655914 ENSG00000173253 chr9:1056399-1056399;C/G missense_variant False DMRT2@p.E546Q 1 0.555555556 ENSG00000173253 chr9:1057223-1057223;G/C missense_variant False DMRT2@p.E486K 1 0.333333333 ENSG00000173253 chr9:1057043-1057043;G/A missense_variant False DMRTB1@p.H215Q 1 0.09039548 ENSG00000143006 chr1:53461540-53461540;C/A missense_variant False DMRTC2@p.V310A 1 0.217391304 ENSG00000142025 chr19:41850638-41850638;T/C missense_variant False DMTF1@p.E233Q 1 0.344827586 ENSG00000135164 chr7:87181328-87181328;G/C missense_variant False DMTF1@p.E344K 1 0.225806452 ENSG00000135164 chr7:87184606-87184606;G/A missense_variant False DMTF1@p.E653Q 1 0.519607843 ENSG00000135164 chr7:87194031-87194031;G/C missense_variant False DMTF1@p.I683V 1 0.357142857 ENSG00000135164 chr7:87194702-87194702;A/G missense_variant False DMTF1@p.Q35H 1 0.244444444 ENSG00000135164 chr7:87165046-87165046;G/C missense_variant False DMTF1@p.R263W 1 0.171428571 ENSG00000135164 chr7:87182304-87182304;C/T missense_variant False DMTF1@p.S131R 1 0.239130435 ENSG00000135164 chr7:87173600-87173600;C/G missense_variant False DMTF1@p.S43L 1 0.36036036 ENSG00000135164 chr7:87166501-87166501;C/T missense_variant False DMTF1@p.S701L 1 0.401960784 ENSG00000135164 chr7:87194757-87194757;C/T missense_variant False DMTN@p.E164K 1 0.119205298 ENSG00000158856 chr8:22070220-22070220;G/A missense_variant False DMTN@p.E218Q 1 0.384615385 ENSG00000158856 chr8:22072373-22072373;G/C missense_variant False DMTN@p.T356A 1 0.56097561 ENSG00000158856 chr8:22081155-22081155;A/G missense_variant False DMWD@p.D212E 1 0.285714286 ENSG00000185800 chr19:45786860-45786860;G/T missense_variant False DMWD@p.F186L 1 0.246753247 ENSG00000185800 chr19:45790971-45790971;G/C missense_variant False DMWD@p.P138T 1 0.222222222 ENSG00000185800 chr19:45792345-45792345;G/T missense_variant False DLX3@p.S21C 1 0.717391304 ENSG00000064195 chr17:49994938-49994938;T/A missense_variant False DLX3@p.R99W 1 0.25 ENSG00000064195 chr17:49994704-49994704;G/A missense_variant False DLX3@p.K83Sfs*29 1 0.205882353 ENSG00000064195 chr17:49994753-49994753;G/- frameshift_variant False DLEC1@p.R310K 1 0.23943662 ENSG00000008226 chr3:38062636-38062636;G/A missense_variant False DLEC1@p.V243D 1 0.528301887 ENSG00000008226 chr3:38062223-38062223;T/A missense_variant False DLEC1@p.S86L 1 0.270491803 ENSG00000008226 chr3:38039482-38039482;C/T missense_variant False DLEC1@p.S1371L 1 0.142857143 ENSG00000008226 chr3:38116822-38116822;C/T missense_variant False DLEC1@p.S1342F 1 0.26056338 ENSG00000008226 chr3:38116621-38116621;C/T missense_variant False DLEC1@p.R684K 1 0.316455696 ENSG00000008226 chr3:38095010-38095010;G/A missense_variant False DLEC1@p.R323W 1 0.145454545 ENSG00000008226 chr3:38062674-38062674;C/T missense_variant False DLEC1@p.M895I 1 0.215384615 ENSG00000008226 chr3:38097863-38097863;G/A missense_variant False DLD@p.R6G 1 0.151162791 ENSG00000091140 chr7:107891266-107891266;C/G missense_variant False DLEC1@p.H1753D 1 0.06122449 ENSG00000008226 chr3:38122401-38122401;C/G missense_variant False DLEC1@p.G1475S 1 0.352941176 ENSG00000008226 chr3:38117549-38117549;G/A missense_variant False DLEC1@p.G1442V 1 0.607843137 ENSG00000008226 chr3:38117227-38117227;G/T missense_variant False DLEC1@p.E717Q 1 0.259259259 ENSG00000008226 chr3:38095924-38095924;G/C missense_variant False DLEC1@p.E284Q 1 0.15 ENSG00000008226 chr3:38062345-38062345;G/C missense_variant False DLEC1@p.E1300G 1 0.311688312 ENSG00000008226 chr3:38116495-38116495;A/G missense_variant False DLG1@p.D725H 1 0.236111111 ENSG00000075711 chr3:197065768-197065768;C/G missense_variant False DLG1@p.E83K 1 0.404255319 ENSG00000075711 chr3:197282750-197282750;C/T missense_variant False DLG1@p.G675E 1 0.09375 ENSG00000075711 chr3:197075851-197075851;C/T missense_variant False DLG1@p.M841I 1 0.521126761 ENSG00000075711 chr3:197051662-197051662;C/G missense_variant False DLG1@p.Q696E 1 0.415384615 ENSG00000075711 chr3:197066749-197066749;G/C missense_variant False DLG1@p.R4Q 1 0.157894737 ENSG00000075711 chr3:197297194-197297194;C/T missense_variant False DLG1@p.R645C 1 0.16509434 ENSG00000075711 chr3:197085584-197085584;G/A missense_variant False DLG1@p.R851K 1 0.093406593 ENSG00000075711 chr3:197051633-197051633;C/T missense_variant False DLG1@p.S301Y 1 0.386363636 ENSG00000075711 chr3:197138302-197138302;G/T missense_variant False DLG1@p.S733L 1 0.46031746 ENSG00000075711 chr3:197065743-197065743;G/A missense_variant False DLG2@p.D440H 1 0.181818182 ENSG00000150672 chr11:83833703-83833703;C/G missense_variant False DLG2@p.E700K 1 0.263888889 ENSG00000150672 chr11:83471659-83471659;C/T missense_variant False DLG2@p.E829K 1 0.208333333 ENSG00000150672 chr11:83462023-83462023;C/T missense_variant False DLG2@p.E93K 1 0.384615385 ENSG00000150672 chr11:84163493-84163493;C/T missense_variant False DLG2@p.F644L 1 0.162162162 ENSG00000150672 chr11:83484175-83484175;G/C missense_variant False DLG2@p.P299L 1 0.428571429 ENSG00000150672 chr11:83963014-83963014;G/A missense_variant False DLG2@p.Q76H 1 0.064 ENSG00000150672 chr11:85285289-85285289;T/A missense_variant False DLEC1@p.D368Y 1 0.323529412 ENSG00000008226 chr3:38063848-38063848;G/T missense_variant False DLD@p.K430N 1 0.167785235 ENSG00000091140 chr7:107917977-107917977;G/C missense_variant False DLG3@p.D699N 1 0.181818182 ENSG00000082458 chrX:70499999-70499999;G/A missense_variant False DLAT@p.E115K 1 0.25 ENSG00000150768 chr11:112026261-112026261;G/A missense_variant False DLC1@p.D1145H 1 0.4 ENSG00000164741 chr8:13094852-13094852;C/G missense_variant False DLC1@p.A718T 1 0.566666667 ENSG00000164741 chr8:13100185-13100185;C/T missense_variant False DLC1@p.A614T 1 0.223880597 ENSG00000164741 chr8:13100497-13100497;C/T missense_variant False DLAT@p.V509del 1 0.333333333 ENSG00000150768 chr11:112059909-112059911;TGT/- inframe_deletion False DLAT@p.T23K 1 0.202898551 ENSG00000150768 chr11:112025540-112025540;C/A missense_variant False DLAT@p.E115Q 1 0.2 ENSG00000150768 chr11:112026261-112026261;G/C missense_variant False DLAT@p.A57T 1 0.103448276 ENSG00000150768 chr11:112025641-112025641;G/A missense_variant False DLD@p.I304M 1 0.144444444 ENSG00000091140 chr7:107916830-107916830;C/G missense_variant False DKKL1@p.S22C 1 0.15 ENSG00000104901 chr19:49364636-49364636;C/G missense_variant False DKKL1@p.R66W 1 0.329113924 ENSG00000104901 chr19:49365521-49365521;C/T missense_variant False DKKL1@p.A31T 1 0.090163934 ENSG00000104901 chr19:49364662-49364662;G/A missense_variant False DKK4@p.P119L 1 0.248387097 ENSG00000104371 chr8:42374820-42374820;G/A missense_variant False DKK3@p.T98P 1 0.428571429 ENSG00000050165 chr11:12002359-12002359;T/G missense_variant False DKK3@p.P275L 1 0.24137931 ENSG00000050165 chr11:11965815-11965815;G/A missense_variant False DLC1@p.D1398G 1 0.247706422 ENSG00000164741 chr8:13088586-13088586;T/C missense_variant False DLC1@p.E246K 1 0.927710843 ENSG00000164741 chr8:13499336-13499336;C/T missense_variant False DLC1@p.E256K 1 0.212435233 ENSG00000164741 chr8:13499306-13499306;C/T missense_variant False DLC1@p.E587K 1 0.163636364 ENSG00000164741 chr8:13100578-13100578;C/T missense_variant False DLC1@p.H1422Y 1 0.75 ENSG00000164741 chr8:13088515-13088515;G/A missense_variant False DLC1@p.H66N 1 0.493197279 ENSG00000164741 chr8:13499876-13499876;G/T missense_variant False DLC1@p.K1261N 1 0.128205128 ENSG00000164741 chr8:13091390-13091390;T/A missense_variant False DLC1@p.N407K 1 0.44 ENSG00000164741 chr8:13393646-13393646;A/C missense_variant False DLC1@p.P307T 1 0.14 ENSG00000164741 chr8:13499153-13499153;G/T missense_variant False DLC1@p.R1384C 1 0.264150943 ENSG00000164741 chr8:13088629-13088629;G/A missense_variant False DLC1@p.S1318L 1 0.129411765 ENSG00000164741 chr8:13090373-13090373;G/A missense_variant False DLC1@p.S160Y 1 0.49044586 ENSG00000164741 chr8:13499593-13499593;G/T missense_variant False DLC1@p.S688T 1 0.408163265 ENSG00000164741 chr8:13100275-13100275;A/T missense_variant False DLC1@p.T738S 1 0.222222222 ENSG00000164741 chr8:13100125-13100125;T/A missense_variant False DLD@p.D198N 1 0.222222222 ENSG00000091140 chr7:107906276-107906276;G/A missense_variant False DLD@p.D238H 1 0.243243243 ENSG00000091140 chr7:107915533-107915533;G/C missense_variant False DLD@p.E326Q 1 0.117647059 ENSG00000091140 chr7:107916894-107916894;G/C missense_variant False DLG2@p.T673R 1 0.133333333 ENSG00000150672 chr11:83472738-83472738;G/C missense_variant False DLG3@p.G494E 1 0.420289855 ENSG00000082458 chrX:70479225-70479225;G/A missense_variant False DLX3@p.E34K 1 0.333333333 ENSG00000064195 chr17:49994899-49994899;C/T missense_variant False DLGAP5@p.R723K 1 0.413043478 ENSG00000126787 chr14:55151895-55151895;C/T missense_variant False DLL1@p.G623R 1 0.326086957 ENSG00000198719 chr6:170283412-170283412;C/T missense_variant False DLL1@p.D464N 1 0.35 ENSG00000198719 chr6:170283889-170283889;C/T missense_variant False DLL1@p.D170N 1 0.511111111 ENSG00000198719 chr6:170288401-170288401;C/T missense_variant False DLK2@p.E58K 1 0.188679245 ENSG00000171462 chr6:43453104-43453104;C/T missense_variant False DLK1@p.R248H 1 0.125 ENSG00000185559 chr14:100734487-100734487;G/A missense_variant False DLK1@p.E382D 1 0.491803279 ENSG00000185559 chr14:100734890-100734890;G/T missense_variant False DLGAP5@p.L728V 1 0.494623656 ENSG00000126787 chr14:55151881-55151881;G/C missense_variant False DLGAP4@p.H706Y 1 0.493506494 ENSG00000080845 chr20:36500215-36500215;C/T missense_variant False DLGAP5@p.L714F 1 0.125 ENSG00000126787 chr14:55151921-55151921;C/G missense_variant False DLGAP5@p.G744A 1 0.183908046 ENSG00000126787 chr14:55151832-55151832;C/G missense_variant False DLGAP5@p.E845Nfs*22 1 0.25 ENSG00000126787 chr14:55148359-55148359;C/- frameshift_variant False DLGAP5@p.E769Kfs*11 1 0.403846154 ENSG00000126787 chr14:55151758-55151758;C/- frameshift_variant False DLGAP5@p.E412K 1 0.55 ENSG00000126787 chr14:55175413-55175413;C/T missense_variant False DLGAP5@p.D167N 1 0.385714286 ENSG00000126787 chr14:55181294-55181294;C/T missense_variant False DLL1@p.Q250K 1 0.06557377 ENSG00000198719 chr6:170285683-170285683;G/T missense_variant False DLL1@p.R176H 1 0.101123596 ENSG00000198719 chr6:170288382-170288382;C/T missense_variant False DLL1@p.R193H 1 0.326086957 ENSG00000198719 chr6:170288331-170288331;C/T missense_variant False DLL1@p.S694L 1 0.137254902 ENSG00000198719 chr6:170283073-170283073;G/A missense_variant False DLL3@p.D570N 1 0.05785124 ENSG00000090932 chr19:39507864-39507864;G/A missense_variant False DLL3@p.R308W 1 0.181818182 ENSG00000090932 chr19:39505280-39505280;C/T missense_variant False DLL3@p.V505M 1 0.5 ENSG00000090932 chr19:39507458-39507458;G/A missense_variant False DLL4@p.A582D 1 0.204545455 ENSG00000128917 chr15:40936732-40936732;C/A missense_variant False DLL4@p.E40K 1 0.346938776 ENSG00000128917 chr15:40929898-40929898;G/A missense_variant False DLL4@p.K636N 1 0.257142857 ENSG00000128917 chr15:40936895-40936895;G/C missense_variant False DLL4@p.S5F 1 0.294117647 ENSG00000128917 chr15:40929682-40929682;C/T missense_variant False DLST@p.Q183H 1 0.118421053 ENSG00000119689 chr14:74892940-74892940;G/C missense_variant False DLX1@p.G223E 1 0.09009009 ENSG00000144355 chr2:172088157-172088157;G/A missense_variant False DLX2@p.A94T 1 0.380952381 ENSG00000115844 chr2:172102259-172102259;C/T missense_variant False DLX2@p.H310Q 1 0.12962963 ENSG00000115844 chr2:172100600-172100600;G/C missense_variant False DLX2@p.M210I 1 0.484848485 ENSG00000115844 chr2:172100900-172100900;C/T missense_variant False DLX3@p.A160V 1 0.25 ENSG00000064195 chr17:49993437-49993437;G/A missense_variant False DLGAP4@p.Q757H 1 0.285714286 ENSG00000080845 chr20:36500370-36500370;G/C missense_variant False DLGAP4@p.E831Q 1 0.28358209 ENSG00000080845 chr20:36500590-36500590;G/C missense_variant False DLG4@p.E698K 1 0.263157895 ENSG00000132535 chr17:7190791-7190791;C/T missense_variant False DLG5@p.K960R 1 0.228571429 ENSG00000151208 chr10:77821605-77821605;T/C missense_variant False DLGAP1@p.E964K 1 0.307692308 ENSG00000170579 chr18:3499229-3499229;C/T missense_variant False DLGAP1@p.A602T 1 0.315789474 ENSG00000170579 chr18:3582036-3582036;C/T missense_variant False DLG5@p.S604C 1 0.229166667 ENSG00000151208 chr10:77830811-77830811;G/C missense_variant False DLG5@p.S103C 1 0.115384615 ENSG00000151208 chr10:77869194-77869194;G/C missense_variant False DLG5@p.R1685C 1 0.688888889 ENSG00000151208 chr10:77805776-77805776;G/A missense_variant False DLG5@p.N1428Y 1 0.636363636 ENSG00000151208 chr10:77811964-77811964;T/A missense_variant False DLG5@p.K1589T 1 0.142045455 ENSG00000151208 chr10:77807826-77807826;T/G missense_variant False DLGAP4@p.D442N 1 0.202247191 ENSG00000080845 chr20:36439836-36439836;G/A missense_variant False DLG5@p.I609F 1 0.47826087 ENSG00000151208 chr10:77830797-77830797;T/A missense_variant False DLG5@p.E1475K 1 0.111111111 ENSG00000151208 chr10:77811134-77811134;C/T missense_variant False DLG5@p.D1492N 1 0.309677419 ENSG00000151208 chr10:77809720-77809720;C/T missense_variant False DLG5@p.A1527V 1 0.195121951 ENSG00000151208 chr10:77809614-77809614;G/A missense_variant False DLG4@p.I377L 1 0.123287671 ENSG00000132535 chr17:7196530-7196530;T/G missense_variant False DLG4@p.E722D 1 0.191176471 ENSG00000132535 chr17:7190717-7190717;C/G missense_variant False DLGAP1@p.G678E 1 0.153846154 ENSG00000170579 chr18:3567514-3567514;C/T missense_variant False DLGAP1@p.R289W 1 0.417582418 ENSG00000170579 chr18:3879204-3879204;G/A missense_variant False DLGAP1@p.R373K 1 0.588888889 ENSG00000170579 chr18:3814113-3814113;C/T missense_variant False DLGAP1@p.R692Q 1 0.396825397 ENSG00000170579 chr18:3534598-3534598;C/T missense_variant False DLGAP1@p.S587R 1 0.317073171 ENSG00000170579 chr18:3582079-3582079;G/T missense_variant False DLGAP1@p.T960I 1 0.324324324 ENSG00000170579 chr18:3499240-3499240;G/A missense_variant False DLGAP2@p.K350N 1 0.891891892 ENSG00000198010 chr8:1549503-1549503;G/C missense_variant False DLGAP2@p.N191K 1 0.2 ENSG00000198010 chr8:1549026-1549026;C/A missense_variant False DLGAP3@p.D264N 1 0.377906977 ENSG00000116544 chr1:34904594-34904594;C/T missense_variant False DLGAP3@p.E282K 1 0.194594595 ENSG00000116544 chr1:34904540-34904540;C/T missense_variant False DLGAP3@p.G407A 1 0.264285714 ENSG00000116544 chr1:34900161-34900161;C/G missense_variant False DLGAP3@p.K614N 1 0.166666667 ENSG00000116544 chr1:34885550-34885550;C/G missense_variant False DLGAP3@p.R803W 1 0.186666667 ENSG00000116544 chr1:34868683-34868683;G/A missense_variant False DLGAP3@p.R922W 1 0.25 ENSG00000116544 chr1:34866259-34866259;G/A missense_variant False DLGAP3@p.S457Y 1 0.486956522 ENSG00000116544 chr1:34899685-34899685;G/T missense_variant False DLGAP3@p.S960L 1 0.428571429 ENSG00000116544 chr1:34866144-34866144;G/A missense_variant False DLGAP4@p.A272T 1 0.428571429 ENSG00000080845 chr20:36432531-36432531;G/A missense_variant False DMXL2@p.L2536P 1 0.291666667 ENSG00000104093 chr15:51464873-51464873;A/G missense_variant False DMXL2@p.L3017P 1 0.188235294 ENSG00000104093 chr15:51449045-51449045;A/G missense_variant False DKK3@p.E183D 1 0.456521739 ENSG00000050165 chr11:11967078-11967078;C/A missense_variant False DNAH3@p.D1191N 1 0.253731343 ENSG00000158486 chr16:21062631-21062631;C/T missense_variant False DNAH3@p.E33K 1 0.316831683 ENSG00000158486 chr16:21159345-21159345;C/T missense_variant False DNAH3@p.E32K 1 0.602739726 ENSG00000158486 chr16:21159348-21159348;C/T missense_variant False DNAH3@p.E2630Q 1 0.439655172 ENSG00000158486 chr16:20979518-20979518;C/G missense_variant False DNAH3@p.E2149Q 1 0.131578947 ENSG00000158486 chr16:20997439-20997439;C/G missense_variant False DNAH3@p.D3108E 1 0.132653061 ENSG00000158486 chr16:20964560-20964560;A/T missense_variant False DNAH3@p.D2355H 1 0.090225564 ENSG00000158486 chr16:20985679-20985679;C/G missense_variant False DNAH3@p.A560T 1 0.147058824 ENSG00000158486 chr16:21120761-21120761;C/T missense_variant False DNAH3@p.E8K 1 0.53125 ENSG00000158486 chr16:21159420-21159420;C/T missense_variant False DNAH3@p.A1584V 1 0.470588235 ENSG00000158486 chr16:21037960-21037960;G/A missense_variant False DNAH2@p.W2511C 1 0.131313131 ENSG00000183914 chr17:7793169-7793169;G/T missense_variant False DNAH2@p.V2540F 1 0.257575758 ENSG00000183914 chr17:7794302-7794302;G/T missense_variant False DNAH2@p.V1777I 1 0.257142857 ENSG00000183914 chr17:7778158-7778158;G/A missense_variant False DNAH2@p.V1088M 1 0.134920635 ENSG00000183914 chr17:7764199-7764199;G/A missense_variant False DNAH2@p.S477P 1 0.060402685 ENSG00000183914 chr17:7740472-7740472;T/C missense_variant False DNAH3@p.E555Q 1 0.271186441 ENSG00000158486 chr16:21120776-21120776;C/G missense_variant False DNAH3@p.F2661L 1 0.2 ENSG00000158486 chr16:20979423-20979423;G/C missense_variant False DMXL2@p.L3033I 1 0.452380952 ENSG00000104093 chr15:51448998-51448998;G/T missense_variant False DNAH3@p.M292I 1 0.25 ENSG00000158486 chr16:21136334-21136334;C/T missense_variant False DNAH3@p.Q3845Pfs*12 1 0.188679245 ENSG00000158486 chr16:20941521-20941522;-/G frameshift_variant False DNAH3@p.Q383E 1 0.231182796 ENSG00000158486 chr16:21127748-21127748;G/C missense_variant False DNAH3@p.Q3468E 1 0.138461538 ENSG00000158486 chr16:20963482-20963482;G/C missense_variant False DNAH3@p.Q1249H 1 0.222222222 ENSG00000158486 chr16:21060330-21060330;C/G missense_variant False DNAH3@p.P17A 1 0.052238806 ENSG00000158486 chr16:21159393-21159393;G/C missense_variant False DNAH3@p.N2605S 1 0.217391304 ENSG00000158486 chr16:20982766-20982766;T/C missense_variant False DNAH3@p.L2315V 1 0.355371901 ENSG00000158486 chr16:20987388-20987388;G/C missense_variant False DNAH3@p.F3676L 1 0.506944444 ENSG00000158486 chr16:20954856-20954856;G/T missense_variant False DNAH3@p.K1313M 1 0.225 ENSG00000158486 chr16:21054521-21054521;T/A missense_variant False DNAH3@p.K1060I 1 0.124352332 ENSG00000158486 chr16:21070732-21070732;T/A missense_variant False DNAH3@p.I3066M 1 0.183908046 ENSG00000158486 chr16:20964686-20964686;G/C missense_variant False DNAH3@p.I1292V 1 0.345454545 ENSG00000158486 chr16:21058136-21058136;T/C missense_variant False DNAH3@p.G2364E 1 0.271604938 ENSG00000158486 chr16:20985651-20985651;C/T missense_variant False DNAH3@p.G1432E 1 0.155555556 ENSG00000158486 chr16:21049962-21049962;C/T missense_variant False DNAH2@p.S4135F 1 0.168316832 ENSG00000183914 chr17:7831259-7831259;C/T missense_variant False DNAH2@p.S3970F 1 0.19379845 ENSG00000183914 chr17:7830355-7830355;C/T missense_variant False DNAH2@p.S3634L 1 0.220588235 ENSG00000183914 chr17:7819294-7819294;C/T missense_variant False DNAH1@p.G2391E 1 0.217948718 ENSG00000114841 chr3:52375967-52375967;G/A missense_variant False DNAH1@p.S2425C 1 0.397435897 ENSG00000114841 chr3:52378677-52378677;C/G missense_variant False DNAH1@p.R852C 1 0.578947368 ENSG00000114841 chr3:52350016-52350016;C/T missense_variant False DNAH1@p.R3718H 1 0.37254902 ENSG00000114841 chr3:52395572-52395572;G/A missense_variant False DNAH1@p.R1107Q 1 0.476190476 ENSG00000114841 chr3:52353473-52353473;G/A missense_variant False DNAH1@p.L4128V 1 0.303418803 ENSG00000114841 chr3:52399142-52399142;C/G missense_variant False DNAH1@p.G4126Lfs*22 1 0.276218612 ENSG00000114841 chr3:52399134-52399137;CAGG/- frameshift_variant False DNAH1@p.G1820D 1 0.195121951 ENSG00000114841 chr3:52364960-52364960;G/A missense_variant False DNAH2@p.R501H 1 0.134228188 ENSG00000183914 chr17:7740545-7740545;G/A missense_variant False DNAH1@p.G1569R 1 0.5 ENSG00000114841 chr3:52361183-52361183;G/A missense_variant False DNAH1@p.F3839L 1 0.153846154 ENSG00000114841 chr3:52396704-52396704;C/G missense_variant False DNAH1@p.E728Q 1 0.422764228 ENSG00000114841 chr3:52348963-52348963;G/C missense_variant False DNAH1@p.E2655K 1 0.352941176 ENSG00000114841 chr3:52383407-52383407;G/A missense_variant False DNAH1@p.E2410K 1 0.196969697 ENSG00000114841 chr3:52378631-52378631;G/A missense_variant False DNAH1@p.E1159Q 1 0.6 ENSG00000114841 chr3:52353628-52353628;G/C missense_variant False DNAH1@p.S2786P 1 0.363636364 ENSG00000114841 chr3:52384819-52384819;T/C missense_variant False DNAH1@p.S3669C 1 0.242424242 ENSG00000114841 chr3:52395345-52395345;C/G missense_variant False DNAH1@p.T3875M 1 0.274509804 ENSG00000114841 chr3:52396881-52396881;C/T missense_variant False DNAH1@p.V2785M 1 0.538461538 ENSG00000114841 chr3:52384816-52384816;G/A missense_variant False DNAH1@p.Y4165Gfs*60 1 0.342105263 ENSG00000114841 chr3:52399590-52399591;-/GGTGC frameshift_variant False DNAH2@p.A3603V 1 0.558823529 ENSG00000183914 chr17:7819056-7819056;C/T missense_variant False DNAH2@p.E1005D 1 0.331034483 ENSG00000183914 chr17:7763867-7763867;G/C missense_variant False DNAH2@p.E1168K 1 0.40776699 ENSG00000183914 chr17:7765556-7765556;G/A missense_variant False DNAH2@p.E833Q 1 0.230769231 ENSG00000183914 chr17:7759470-7759470;G/C missense_variant False DNAH2@p.F1745L 1 0.341708543 ENSG00000183914 chr17:7777622-7777622;C/G missense_variant False DNAH2@p.H397Y 1 0.555555556 ENSG00000183914 chr17:7739751-7739751;C/T missense_variant False DNAH2@p.H796N 1 0.380952381 ENSG00000183914 chr17:7759062-7759062;C/A missense_variant False DNAH2@p.I2552M 1 0.397435897 ENSG00000183914 chr17:7794340-7794340;C/G missense_variant False DNAH2@p.M230I 1 0.275862069 ENSG00000183914 chr17:7734244-7734244;G/A missense_variant False DNAH2@p.Q182L 1 0.375 ENSG00000183914 chr17:7733232-7733232;A/T missense_variant False DNAH2@p.Q4175E 1 0.73015873 ENSG00000183914 chr17:7831453-7831453;C/G missense_variant False DNAH2@p.R1325W 1 0.901960784 ENSG00000183914 chr17:7770283-7770283;C/T missense_variant False DNAH3@p.Q591E 1 0.064102564 ENSG00000158486 chr16:21117246-21117246;G/C missense_variant False DNAH3@p.R2535W 1 0.162790698 ENSG00000158486 chr16:20985139-20985139;T/A missense_variant False DNAH3@p.R3077C 1 0.328358209 ENSG00000158486 chr16:20964655-20964655;G/A missense_variant False DNAH5@p.S2762F 1 0.145631068 ENSG00000039139 chr5:13792157-13792157;G/A missense_variant False DNAH5@p.V3460M 1 0.335403727 ENSG00000039139 chr5:13758887-13758887;C/T missense_variant False DNAH5@p.V2759A 1 0.361111111 ENSG00000039139 chr5:13792166-13792166;A/G missense_variant False DNAH5@p.S894C 1 0.206896552 ENSG00000039139 chr5:13886026-13886026;G/C missense_variant False DNAH5@p.S4345C 1 0.076086957 ENSG00000039139 chr5:13714496-13714496;G/C missense_variant False DNAH5@p.S3712F 1 0.253012048 ENSG00000039139 chr5:13751154-13751154;G/A missense_variant False DNAH5@p.S3089L 1 0.258064516 ENSG00000039139 chr5:13776546-13776546;G/A missense_variant False DNAH5@p.S2103L 1 0.160493827 ENSG00000039139 chr5:13829646-13829646;G/A missense_variant False DNAH5@p.R3710C 1 0.361702128 ENSG00000039139 chr5:13751161-13751161;G/A missense_variant False DNAH5@p.S1326N 1 0.444444444 ENSG00000039139 chr5:13867850-13867850;C/T missense_variant False DNAH5@p.R827C 1 0.070588235 ENSG00000039139 chr5:13891074-13891074;G/A missense_variant False DNAH5@p.R67I 1 0.56097561 ENSG00000039139 chr5:13928171-13928171;C/A missense_variant False DNAH5@p.R661C 1 0.20754717 ENSG00000039139 chr5:13901323-13901323;G/A missense_variant False DNAH5@p.R479H 1 0.511627907 ENSG00000039139 chr5:13913843-13913843;C/T missense_variant False DNAH5@p.R3845H 1 0.125 ENSG00000039139 chr5:13735854-13735854;C/T missense_variant False DNAH5@p.V4403L 1 0.097560976 ENSG00000039139 chr5:13708254-13708254;C/G missense_variant False DNAH5@p.W3117L 1 0.209230769 ENSG00000039139 chr5:13776462-13776462;C/A missense_variant False DNAH6@p.A716E 1 0.252525253 ENSG00000115423 chr2:84579597-84579597;C/A missense_variant False DNAH6@p.D561G 1 0.076086957 ENSG00000115423 chr2:84557814-84557814;A/G missense_variant False DNAH6@p.E648V 1 0.06122449 ENSG00000115423 chr2:84577275-84577275;A/T missense_variant False DNAH6@p.F645V 1 0.169811321 ENSG00000115423 chr2:84577265-84577265;T/G missense_variant False DNAH6@p.I604F 1 0.238461538 ENSG00000115423 chr2:84573473-84573473;A/T missense_variant False DNAH6@p.S550T 1 0.080536913 ENSG00000115423 chr2:84557780-84557780;T/A missense_variant False DNAH6@p.V806A 1 0.24 ENSG00000115423 chr2:84584186-84584186;T/C missense_variant False DNAH6@p.W483C 1 0.327586207 ENSG00000115423 chr2:84550021-84550021;G/C missense_variant False DNAH7@p.A3632V 1 0.211538462 ENSG00000118997 chr2:195777969-195777969;G/A missense_variant False DNAH7@p.A3704T 1 0.181818182 ENSG00000118997 chr2:195775938-195775938;C/T missense_variant False DNAH7@p.D1534Y 1 0.258064516 ENSG00000118997 chr2:195897714-195897714;C/A missense_variant False DNAH7@p.D2451H 1 0.375 ENSG00000118997 chr2:195864304-195864304;C/G missense_variant False DNAH7@p.D2758N 1 0.242424242 ENSG00000118997 chr2:195857519-195857519;C/T missense_variant False DNAH7@p.D2976N 1 0.388888889 ENSG00000118997 chr2:195845021-195845021;C/T missense_variant False DNAH7@p.D3449N 1 0.194915254 ENSG00000118997 chr2:195799304-195799304;C/T missense_variant False DNAH5@p.R3710H 1 0.413333333 ENSG00000039139 chr5:13751160-13751160;C/T missense_variant False DNAH5@p.R293T 1 0.129554656 ENSG00000039139 chr5:13919273-13919273;C/G missense_variant False DNAH3@p.S1595C 1 0.125 ENSG00000158486 chr16:21037927-21037927;G/C missense_variant False DNAH5@p.D3605N 1 0.082474227 ENSG00000039139 chr5:13753292-13753292;C/T missense_variant False DNAH5@p.G2339S 1 0.368421053 ENSG00000039139 chr5:13814820-13814820;C/T missense_variant False DNAH5@p.G1770C 1 0.459183673 ENSG00000039139 chr5:13841868-13841868;C/A missense_variant False DNAH5@p.F3538V 1 0.240601504 ENSG00000039139 chr5:13753493-13753493;A/C missense_variant False DNAH5@p.F129L 1 0.051813472 ENSG00000039139 chr5:13923331-13923331;G/C missense_variant False DNAH5@p.E1813_G1815del 1 0.257731959 ENSG00000039139 chr5:13841731-13841739;ACCTGTTTC/- inframe_deletion False DNAH5@p.D4349N 1 0.30952381 ENSG00000039139 chr5:13714485-13714485;C/T missense_variant False DNAH5@p.D3046E 1 0.174311927 ENSG00000039139 chr5:13776674-13776674;A/T missense_variant False DNAH5@p.R2571K 1 0.3125 ENSG00000039139 chr5:13809084-13809084;C/T missense_variant False DNAH5@p.D3043Y 1 0.364864865 ENSG00000039139 chr5:13776685-13776685;C/A missense_variant False DNAH5@p.D1852N 1 0.180851064 ENSG00000039139 chr5:13841061-13841061;C/T missense_variant False DNAH5@p.A418T 1 0.310344828 ENSG00000039139 chr5:13914588-13914588;C/T missense_variant False DNAH3@p.Y2255S 1 0.111111111 ENSG00000158486 chr16:20987811-20987811;T/G missense_variant False DNAH3@p.S2360R 1 0.375661376 ENSG00000158486 chr16:20985662-20985662;G/T missense_variant False DNAH3@p.S2226L 1 0.917808219 ENSG00000158486 chr16:20987990-20987990;G/A missense_variant False DNAH5@p.G3532S 1 0.46875 ENSG00000039139 chr5:13753511-13753511;C/T missense_variant False DNAH5@p.H635R 1 0.131147541 ENSG00000039139 chr5:13901400-13901400;T/C missense_variant False DNAH5@p.H777N 1 0.183823529 ENSG00000039139 chr5:13894752-13894752;G/T missense_variant False DNAH5@p.H986D 1 0.035460993 ENSG00000039139 chr5:13885016-13885016;G/C missense_variant False DNAH5@p.H989Y 1 0.183908046 ENSG00000039139 chr5:13885007-13885007;G/A missense_variant False DNAH5@p.I393M 1 0.14893617 ENSG00000039139 chr5:13916366-13916366;G/C missense_variant False DNAH5@p.K1406N 1 0.15037594 ENSG00000039139 chr5:13865805-13865805;C/G missense_variant False DNAH5@p.L3997V 1 0.063829787 ENSG00000039139 chr5:13727551-13727551;G/C missense_variant False DNAH5@p.M2661I 1 0.540540541 ENSG00000039139 chr5:13793963-13793963;C/A missense_variant False DNAH5@p.M3323K 1 0.088888889 ENSG00000039139 chr5:13766109-13766109;A/T missense_variant False DNAH5@p.N3560I 1 0.036101083 ENSG00000039139 chr5:13753426-13753426;T/A missense_variant False DNAH5@p.P1957A 1 0.180851064 ENSG00000039139 chr5:13839369-13839369;G/C missense_variant False DNAH5@p.P3348S 1 0.050632911 ENSG00000039139 chr5:13766035-13766035;G/A missense_variant False DNAH5@p.P4183H 1 0.109090909 ENSG00000039139 chr5:13717472-13717472;G/T missense_variant False DNAH5@p.P4579A 1 0.22826087 ENSG00000039139 chr5:13692124-13692124;G/C missense_variant False DNAH5@p.Q2723L 1 0.474137931 ENSG00000039139 chr5:13793571-13793571;T/A missense_variant False DNAH5@p.R2437H 1 0.426229508 ENSG00000039139 chr5:13811744-13811744;C/T missense_variant False DNAH1@p.D2454Y 1 0.530864198 ENSG00000114841 chr3:52378763-52378763;G/T missense_variant False DNAH17@p.T756A 1 0.03125 ENSG00000187775 chr17:78552718-78552718;T/C missense_variant False DNAH17@p.R711P 1 0.647058824 ENSG00000187775 chr17:78558154-78558154;C/G missense_variant False DNAH10@p.D3809H 1 0.307692308 ENSG00000197653 chr12:123923852-123923852;G/C missense_variant False DNAH10@p.E965Q 1 0.321100917 ENSG00000197653 chr12:123808873-123808873;G/C missense_variant False DNAH10@p.E4269K 1 0.194444444 ENSG00000197653 chr12:123931695-123931695;G/A missense_variant False DNAH10@p.E3843K 1 0.733333333 ENSG00000197653 chr12:123924364-123924364;G/A missense_variant False DNAH10@p.E3690D 1 0.23943662 ENSG00000197653 chr12:123918684-123918684;G/C missense_variant False DNAH10@p.E2212Q 1 0.105263158 ENSG00000197653 chr12:123861067-123861067;G/C missense_variant False DNAH10@p.E1147K 1 0.284313725 ENSG00000197653 chr12:123813629-123813629;G/A missense_variant False DNAH10@p.D1732N 1 0.432432432 ENSG00000197653 chr12:123845604-123845604;G/A missense_variant False DNAAF2@p.S294L 1 0.163461538 ENSG00000165506 chr14:49634269-49634269;G/A missense_variant False DNAAF5@p.V606L 1 0.243243243 ENSG00000164818 chr7:770503-770503;G/T missense_variant False DNAAF5@p.E568Q 1 0.098039216 ENSG00000164818 chr7:763893-763893;G/C missense_variant False DNAAF4@p.S20F 1 0.234042553 ENSG00000256061 chr15:55498271-55498271;G/A missense_variant False DNAAF4@p.E390K 1 0.590909091 ENSG00000256061 chr15:55430765-55430765;C/T missense_variant False DNAAF3@p.R231L 1 0.296296296 ENSG00000167646 chr19:55161390-55161390;C/A missense_variant False DNAAF3@p.P530S 1 0.617977528 ENSG00000167646 chr19:55159100-55159100;G/A missense_variant False DNAH10@p.F2113L 1 0.23943662 ENSG00000197653 chr12:123857127-123857127;C/A missense_variant False DNAH10@p.I2211V 1 0.457142857 ENSG00000197653 chr12:123861064-123861064;A/G missense_variant False DNAH10@p.I2236M 1 0.186046512 ENSG00000197653 chr12:123861141-123861141;C/G missense_variant False DNAH10@p.K1237N 1 0.4 ENSG00000197653 chr12:123819051-123819051;G/T missense_variant False DNAH10@p.L2257V 1 0.06 ENSG00000197653 chr12:123864626-123864626;C/G missense_variant False DNAH10@p.L3072F 1 0.168224299 ENSG00000197653 chr12:123897876-123897876;G/C missense_variant False DNAH10@p.M1322I 1 0.088888889 ENSG00000197653 chr12:123820716-123820716;G/A missense_variant False DNAH10@p.M2262T 1 0.259259259 ENSG00000197653 chr12:123864642-123864642;T/C missense_variant False DNAH10@p.M2384I 1 0.461538462 ENSG00000197653 chr12:123867923-123867923;G/T missense_variant False DNAH10@p.N194H 1 0.504950495 ENSG00000197653 chr12:123774223-123774223;A/C missense_variant False DNAH10@p.P1891L 1 0.06122449 ENSG00000197653 chr12:123847989-123847989;C/T missense_variant False DNAH10@p.Q273E 1 0.401162791 ENSG00000197653 chr12:123781275-123781275;C/G missense_variant False DNAH10@p.R102P 1 0.294117647 ENSG00000197653 chr12:123771607-123771607;G/C missense_variant False DNAH10@p.R1245Q 1 0.461538462 ENSG00000197653 chr12:123819155-123819155;G/A missense_variant False DNAH10@p.R1367K 1 0.376146789 ENSG00000197653 chr12:123826778-123826778;G/A missense_variant False DNAH10@p.R3904W 1 0.11038961 ENSG00000197653 chr12:123925164-123925164;C/T missense_variant False DNAH10@p.R4488Q 1 0.211111111 ENSG00000197653 chr12:123935345-123935345;G/A missense_variant False DNAAF3@p.E46K 1 0.5 ENSG00000167646 chr19:55165950-55165950;C/T missense_variant False DNAAF2@p.M163L 1 0.433333333 ENSG00000165506 chr14:49634663-49634663;T/G missense_variant False DNAH10@p.Y2456H 1 0.466666667 ENSG00000197653 chr12:123870383-123870383;T/C missense_variant False DMXL2@p.R1234T 1 0.262295082 ENSG00000104093 chr15:51499523-51499523;C/G missense_variant False DMXL2@p.V1753I 1 0.378378378 ENSG00000104093 chr15:51486298-51486298;C/T missense_variant False DMXL2@p.S987L 1 0.153846154 ENSG00000104093 chr15:51502838-51502838;G/A missense_variant False DMXL2@p.S1597C 1 0.283018868 ENSG00000104093 chr15:51491741-51491741;G/C missense_variant False DMXL2@p.R2718C 1 0.54368932 ENSG00000104093 chr15:51457447-51457447;G/A missense_variant False DMXL2@p.R2132T 1 0.201117318 ENSG00000104093 chr15:51480711-51480711;C/G missense_variant False DMXL2@p.R1308T 1 0.301075269 ENSG00000104093 chr15:51499301-51499301;C/G missense_variant False DMXL2@p.R1234K 1 0.362637363 ENSG00000104093 chr15:51499523-51499523;C/T missense_variant False DNAAF2@p.L552F 1 0.271428571 ENSG00000165506 chr14:49633494-49633494;C/A missense_variant False DMXL2@p.Q2291E 1 0.160714286 ENSG00000104093 chr15:51476679-51476679;G/C missense_variant False DMXL2@p.Q121E 1 0.666666667 ENSG00000104093 chr15:51565091-51565091;G/C missense_variant False DMXL2@p.P2649S 1 0.2125 ENSG00000104093 chr15:51458774-51458774;G/A missense_variant False DMXL2@p.P1795Lfs*10 1 0.333333333 ENSG00000104093 chr15:51486173-51486173;A/- frameshift_variant False DMXL2@p.N3030K 1 0.264705882 ENSG00000104093 chr15:51449005-51449005;G/T missense_variant False DMXL2@p.L520V 1 0.255319149 ENSG00000104093 chr15:51537547-51537547;G/C missense_variant False DMXL2@p.W118R 1 0.333333333 ENSG00000104093 chr15:51565100-51565100;A/G missense_variant False DNA2@p.E907G 1 0.10619469 ENSG00000138346 chr10:68419870-68419870;T/C missense_variant False DNA2@p.L404V 1 0.128205128 ENSG00000138346 chr10:68444931-68444931;G/C missense_variant False DNA2@p.L512V 1 0.206349206 ENSG00000138346 chr10:68437123-68437123;G/C missense_variant False DNA2@p.L626F 1 0.254385965 ENSG00000138346 chr10:68431967-68431967;C/G missense_variant False DNA2@p.R46P 1 0.269230769 ENSG00000138346 chr10:68470101-68470101;C/G missense_variant False DNA2@p.R780W 1 0.242424242 ENSG00000138346 chr10:68422761-68422761;G/A missense_variant False DNA2@p.S720L 1 0.363636364 ENSG00000138346 chr10:68430485-68430485;G/A missense_variant False DNAAF1@p.A75T 1 0.379310345 ENSG00000154099 chr16:84149105-84149105;G/A missense_variant False DNAAF1@p.E497K 1 0.314285714 ENSG00000154099 chr16:84170317-84170317;G/A missense_variant False DNAAF1@p.E699D 1 0.174479167 ENSG00000154099 chr16:84177760-84177760;G/C missense_variant False DNAAF1@p.K315N 1 0.106666667 ENSG00000154099 chr16:84165864-84165864;G/T missense_variant False DNAAF1@p.N255Tfs*18 1 0.357142857 ENSG00000154099 chr16:84159695-84159695;A/- frameshift_variant False DNAAF1@p.Q658R 1 0.264705882 ENSG00000154099 chr16:84176207-84176207;A/G missense_variant False DNAAF1@p.Q706K 1 0.129213483 ENSG00000154099 chr16:84177779-84177779;C/A missense_variant False DNAAF2@p.F176L 1 0.189655172 ENSG00000165506 chr14:49634622-49634622;G/T missense_variant False DNAAF2@p.I775K 1 0.206896552 ENSG00000165506 chr14:49625732-49625732;A/T missense_variant False DNAH10@p.V420M 1 0.454545455 ENSG00000197653 chr12:123785773-123785773;G/A missense_variant False DNAH11@p.A3207G 1 0.082644628 ENSG00000105877 chr7:21786646-21786646;C/G missense_variant False DNAH17@p.R1580Q 1 0.083969466 ENSG00000187775 chr17:78506784-78506784;C/T missense_variant False DNAH17@p.A831V 1 0.434482759 ENSG00000187775 chr17:78543897-78543897;G/A missense_variant False DNAH17@p.D817N 1 0.15 ENSG00000187775 chr17:78543940-78543940;C/T missense_variant False DNAH17@p.D4299H 1 0.326086957 ENSG00000187775 chr17:78426477-78426477;C/G missense_variant False DNAH17@p.D3923N 1 0.229508197 ENSG00000187775 chr17:78439128-78439128;C/T missense_variant False DNAH17@p.D3315N 1 0.129251701 ENSG00000187775 chr17:78458599-78458599;C/T missense_variant False DNAH17@p.D1120N 1 0.371794872 ENSG00000187775 chr17:78529621-78529621;C/T missense_variant False DNAH17@p.C4424F 1 0.04964539 ENSG00000187775 chr17:78424024-78424024;C/A missense_variant False DNAH17@p.A3409V 1 0.236842105 ENSG00000187775 chr17:78454650-78454650;G/A missense_variant False DNAH11@p.V1519E 1 0.333333333 ENSG00000105877 chr7:21635926-21635926;T/A missense_variant False DNAH17@p.A3166T 1 0.122807018 ENSG00000187775 chr17:78459941-78459941;C/T missense_variant False DNAH12@p.R133T 1 0.12 ENSG00000174844 chr3:57510861-57510861;C/G missense_variant False DNAH12@p.L270F 1 0.072463768 ENSG00000174844 chr3:57507732-57507732;G/A missense_variant False DNAH12@p.E172G 1 0.2 ENSG00000174844 chr3:57509167-57509167;T/C missense_variant False DNAH12@p.D333H 1 0.2 ENSG00000174844 chr3:57504105-57504105;C/G missense_variant False DNAH11@p.W1127C 1 0.086956522 ENSG00000105877 chr7:21601135-21601135;G/C missense_variant False DNAH17@p.E1900K 1 0.305555556 ENSG00000187775 chr17:78499055-78499055;C/T missense_variant False DNAH17@p.E227K 1 0.25210084 ENSG00000187775 chr17:78571643-78571643;C/T missense_variant False DNAH17@p.E2287Q 1 0.134146341 ENSG00000187775 chr17:78486466-78486466;C/G missense_variant False DNAH17@p.E3090K 1 0.260869565 ENSG00000187775 chr17:78461615-78461615;C/T missense_variant False DNAH17@p.E3306Q 1 0.263888889 ENSG00000187775 chr17:78458626-78458626;C/G missense_variant False DNAH17@p.E3810K 1 0.363636364 ENSG00000187775 chr17:78444704-78444704;C/T missense_variant False DNAH17@p.E4039Q 1 0.343434343 ENSG00000187775 chr17:78434139-78434139;C/G missense_variant False DNAH17@p.F2972V 1 0.116666667 ENSG00000187775 chr17:78466681-78466681;A/C missense_variant False DNAH17@p.G3557A 1 0.164285714 ENSG00000187775 chr17:78451533-78451533;C/G missense_variant False DNAH17@p.I3690N 1 0.222222222 ENSG00000187775 chr17:78449556-78449556;A/T missense_variant False DNAH17@p.L1114F 1 0.172727273 ENSG00000187775 chr17:78529639-78529639;G/A missense_variant False DNAH17@p.L1839V 1 0.432432432 ENSG00000187775 chr17:78500430-78500430;G/C missense_variant False DNAH17@p.M152I 1 0.166666667 ENSG00000187775 chr17:78572784-78572784;C/G missense_variant False DNAH17@p.N4056S 1 0.196531792 ENSG00000187775 chr17:78434087-78434087;T/C missense_variant False DNAH17@p.N88K 1 0.234567901 ENSG00000187775 chr17:78574794-78574794;G/C missense_variant False DNAH17@p.R1575K 1 0.223880597 ENSG00000187775 chr17:78506799-78506799;C/T missense_variant False DNAH17@p.R1575T 1 0.234693878 ENSG00000187775 chr17:78506799-78506799;C/G missense_variant False DNAH11@p.V386G 1 0.277777778 ENSG00000105877 chr7:21564360-21564360;T/G missense_variant False DNAH11@p.S2141C 1 0.229166667 ENSG00000105877 chr7:21704582-21704582;C/G missense_variant False DNAH11@p.C4455Y 1 0.083333333 ENSG00000105877 chr7:21901067-21901067;G/A missense_variant False DNAH11@p.E3661K 1 0.050724638 ENSG00000105877 chr7:21852551-21852551;G/A missense_variant False DNAH11@p.G1678A 1 0.102040816 ENSG00000105877 chr7:21655920-21655920;G/C missense_variant False DNAH11@p.G1385D 1 0.137931034 ENSG00000105877 chr7:21617677-21617677;G/A missense_variant False DNAH11@p.F929I 1 0.125 ENSG00000105877 chr7:21599904-21599904;T/A missense_variant False DNAH11@p.F700L 1 0.23943662 ENSG00000105877 chr7:21589334-21589334;C/G missense_variant False DNAH11@p.E4398D 1 0.347826087 ENSG00000105877 chr7:21900011-21900011;G/T missense_variant False DNAH11@p.E4171K 1 0.359173127 ENSG00000105877 chr7:21892428-21892428;G/A missense_variant False DNAH11@p.E3541K 1 0.626865672 ENSG00000105877 chr7:21818269-21818269;G/A missense_variant False DNAH11@p.S109L 1 0.235294118 ENSG00000105877 chr7:21543571-21543571;C/T missense_variant False DNAH11@p.E3490K 1 0.216216216 ENSG00000105877 chr7:21816602-21816602;G/A missense_variant False DNAH11@p.E3451K 1 0.6 ENSG00000105877 chr7:21816485-21816485;G/A missense_variant False DNAH11@p.E3361K 1 0.193548387 ENSG00000105877 chr7:21801191-21801191;G/A missense_variant False DNAH11@p.E3356Q 1 0.24137931 ENSG00000105877 chr7:21801176-21801176;G/C missense_variant False DNAH11@p.E3158Q 1 0.48 ENSG00000105877 chr7:21779093-21779093;G/C missense_variant False DNAH11@p.D928Y 1 0.483870968 ENSG00000105877 chr7:21599901-21599901;G/T missense_variant False DNAH11@p.G3556C 1 0.163934426 ENSG00000105877 chr7:21818314-21818314;G/T missense_variant False DNAH11@p.H1545D 1 0.178571429 ENSG00000105877 chr7:21636003-21636003;C/G missense_variant False DNAH11@p.H1545Y 1 0.789473684 ENSG00000105877 chr7:21636003-21636003;C/T missense_variant False DNAH11@p.H374D 1 0.14 ENSG00000105877 chr7:21564323-21564323;C/G missense_variant False DNAH11@p.L3514Q 1 0.101449275 ENSG00000105877 chr7:21816675-21816675;T/A missense_variant False DNAH11@p.L4306P 1 0.454545455 ENSG00000105877 chr7:21894789-21894789;T/C missense_variant False DNAH11@p.L667S 1 0.42 ENSG00000105877 chr7:21589234-21589234;T/C missense_variant False DNAH11@p.M2496I 1 0.119047619 ENSG00000105877 chr7:21735687-21735687;G/A missense_variant False DNAH11@p.M635I 1 0.118518519 ENSG00000105877 chr7:21588568-21588568;G/A missense_variant False DNAH11@p.P942L 1 0.344827586 ENSG00000105877 chr7:21599944-21599944;C/T missense_variant False DNAH11@p.Q1298H 1 0.243243243 ENSG00000105877 chr7:21615155-21615155;G/T missense_variant False DNAH11@p.Q1779E 1 0.210526316 ENSG00000105877 chr7:21681552-21681552;C/G missense_variant False DNAH11@p.R1439K 1 0.225806452 ENSG00000105877 chr7:21619161-21619161;G/A missense_variant False DNAH11@p.R2189Q 1 0.55 ENSG00000105877 chr7:21707718-21707718;G/A missense_variant False DNAH11@p.R2866T 1 0.307692308 ENSG00000105877 chr7:21748666-21748666;G/C missense_variant False DNAH11@p.R4300C 1 0.5 ENSG00000105877 chr7:21894770-21894770;C/T missense_variant False DNAH11@p.R656H 1 0.133333333 ENSG00000105877 chr7:21588630-21588630;G/A missense_variant False DKK3@p.L38H 1 0.833333333 ENSG00000050165 chr11:12008470-12008470;A/T missense_variant False DKK2@p.S41F 1 0.694444444 ENSG00000155011 chr4:107035470-107035470;G/A missense_variant False DNAH7@p.E1522D 1 0.137931034 ENSG00000118997 chr2:195897748-195897748;T/A missense_variant False DGKI@p.A877T 1 0.137931034 ENSG00000157680 chr7:137465915-137465915;C/T missense_variant False DGKI@p.R250H 1 0.126760563 ENSG00000157680 chr7:137645527-137645527;C/T missense_variant False DGKI@p.L467M 1 0.371257485 ENSG00000157680 chr7:137587123-137587123;G/T missense_variant False DGKI@p.I441M 1 0.555555556 ENSG00000157680 chr7:137587199-137587199;G/C missense_variant False DGKI@p.E552D 1 0.482142857 ENSG00000157680 chr7:137578312-137578312;C/A missense_variant False DGKI@p.D625Y 1 0.423076923 ENSG00000157680 chr7:137571249-137571249;C/A missense_variant False DGKI@p.D1060Y 1 0.185897436 ENSG00000157680 chr7:137391240-137391240;C/A missense_variant False DGKH@p.S58W 1 0.333333333 ENSG00000102780 chr13:42048946-42048946;C/G missense_variant False DGKK@p.D1164N 1 0.151515152 ENSG00000274588 chrX:50374982-50374982;C/T missense_variant False DGKH@p.S565F 1 0.660377358 ENSG00000102780 chr13:42189091-42189091;C/T missense_variant False DGKH@p.S432L 1 0.196319018 ENSG00000102780 chr13:42168746-42168746;C/T missense_variant False DGKH@p.S1082Y 1 0.108391608 ENSG00000102780 chr13:42219261-42219261;C/A missense_variant False DGKH@p.H371Y 1 0.477272727 ENSG00000102780 chr13:42166667-42166667;C/T missense_variant False DGKH@p.E926K 1 0.135135135 ENSG00000102780 chr13:42209391-42209391;G/A missense_variant False DGKH@p.D319N 1 0.487179487 ENSG00000102780 chr13:42165430-42165430;G/A missense_variant False DGKI@p.S570C 1 0.105263158 ENSG00000157680 chr7:137577274-137577274;G/C missense_variant False DGKK@p.D685H 1 0.277777778 ENSG00000274588 chrX:50387619-50387619;C/G missense_variant False DHX16@p.Q349E 1 0.34375 ENSG00000204560 chr6:30665151-30665151;G/C missense_variant False DGKK@p.R906C 1 0.119047619 ENSG00000274588 chrX:50380019-50380019;G/A missense_variant False DGKZ@p.K856N 1 0.142857143 ENSG00000149091 chr11:46375944-46375944;G/T missense_variant False DGKZ@p.E291Q 1 0.157894737 ENSG00000149091 chr11:46367685-46367685;G/C missense_variant False DGKQ@p.E892K 1 0.117647059 ENSG00000145214 chr4:961102-961102;C/T missense_variant False DGKQ@p.E838K 1 0.434782609 ENSG00000145214 chr4:961529-961529;C/T missense_variant False DGKQ@p.E723K 1 0.285714286 ENSG00000145214 chr4:962482-962482;C/T missense_variant False DGKK@p.W30_P37del 1 0.5 ENSG00000274588 chrX:50470578-50470601;GGCGGCGGCGGCCAAGGCGGCGGA/- inframe_deletion False DGKK@p.R1254C 1 0.205128205 ENSG00000274588 chrX:50368996-50368996;G/A missense_variant False DGKK@p.E104K 1 0.236842105 ENSG00000274588 chrX:50470369-50470369;C/T missense_variant False DGKK@p.Q426E 1 0.235294118 ENSG00000274588 chrX:50403093-50403093;G/C missense_variant False DGKK@p.P43L 1 0.677419355 ENSG00000274588 chrX:50470551-50470551;G/A missense_variant False DGKK@p.P39L 1 0.285714286 ENSG00000274588 chrX:50470563-50470563;G/A missense_variant False DGKK@p.E880K 1 0.454545455 ENSG00000274588 chrX:50382515-50382515;C/T missense_variant False DGKK@p.E56Q 1 0.153225806 ENSG00000274588 chrX:50470513-50470513;C/G missense_variant False DGKK@p.E299Q 1 0.310344828 ENSG00000274588 chrX:50420450-50420450;C/G missense_variant False DGKG@p.R236W 1 0.117346939 ENSG00000058866 chr3:186279937-186279937;G/A missense_variant False DGKG@p.P461T 1 0.238095238 ENSG00000058866 chr3:186260482-186260482;G/T missense_variant False DGKG@p.P461H 1 0.238095238 ENSG00000058866 chr3:186260481-186260481;G/T missense_variant False DGKD@p.D917N 1 0.769230769 ENSG00000077044 chr2:233459811-233459811;G/A missense_variant False DGKE@p.D103H 1 0.211538462 ENSG00000153933 chr17:56835102-56835102;G/C missense_variant False DGKD@p.T143I 1 0.136363636 ENSG00000077044 chr2:233434459-233434459;C/T missense_variant False DGKD@p.R658T 1 0.128205128 ENSG00000077044 chr2:233450066-233450066;G/C missense_variant False DGKD@p.R606P 1 0.228571429 ENSG00000077044 chr2:233449305-233449305;G/C missense_variant False DGKD@p.R340K 1 0.182692308 ENSG00000077044 chr2:233438313-233438313;G/A missense_variant False DGKD@p.L184V 1 0.224669604 ENSG00000077044 chr2:233434865-233434865;C/G missense_variant False DGKD@p.A774V 1 0.88 ENSG00000077044 chr2:233454819-233454819;C/T missense_variant False DGKG@p.P147L 1 0.245544554 ENSG00000058866 chr3:186288814-186288814;G/A missense_variant False DGKB@p.S753Y 1 0.425925926 ENSG00000136267 chr7:14176888-14176888;G/T missense_variant False DGKB@p.R739Q 1 0.285714286 ENSG00000136267 chr7:14178061-14178061;C/T missense_variant False DGKB@p.R159L 1 0.538461538 ENSG00000136267 chr7:14701721-14701721;C/A missense_variant False DGKB@p.P786T 1 0.076923077 ENSG00000136267 chr7:14149190-14149190;G/T missense_variant False DGKB@p.N39D 1 0.14084507 ENSG00000136267 chr7:14757687-14757687;T/C missense_variant False DGKB@p.L533M 1 0.641509434 ENSG00000136267 chr7:14580877-14580877;G/T missense_variant False DGKE@p.D165N 1 0.12962963 ENSG00000153933 chr17:56844047-56844047;G/A missense_variant False DGKE@p.D64N 1 0.525773196 ENSG00000153933 chr17:56834985-56834985;G/A missense_variant False DGKE@p.L384F 1 0.108433735 ENSG00000153933 chr17:56856563-56856563;C/T missense_variant False DGKE@p.M541I 1 0.64516129 ENSG00000153933 chr17:56862710-56862710;G/A missense_variant False DGKE@p.R400T 1 0.48 ENSG00000153933 chr17:56856612-56856612;G/C missense_variant False DGKE@p.S194C 1 0.135416667 ENSG00000153933 chr17:56844135-56844135;C/G missense_variant False DGKG@p.D235E 1 0.115577889 ENSG00000058866 chr3:186279938-186279938;G/T missense_variant False DGKG@p.D384N 1 0.359375 ENSG00000058866 chr3:186267744-186267744;C/T missense_variant False DGKG@p.D641H 1 0.0625 ENSG00000058866 chr3:186188376-186188376;C/G missense_variant False DGKG@p.E172K 1 0.375 ENSG00000058866 chr3:186288740-186288740;C/T missense_variant False DGKG@p.E341D 1 0.132075472 ENSG00000058866 chr3:186268894-186268894;T/A missense_variant False DGKG@p.E378K 1 0.146666667 ENSG00000058866 chr3:186267762-186267762;C/T missense_variant False DGKG@p.E387G 1 0.12 ENSG00000058866 chr3:186267734-186267734;T/C missense_variant False DGKG@p.H456R 1 0.222222222 ENSG00000058866 chr3:186260496-186260496;T/C missense_variant False DGKG@p.K675E 1 0.482758621 ENSG00000058866 chr3:186188274-186188274;T/C missense_variant False DGKG@p.L519F 1 0.107344633 ENSG00000058866 chr3:186253138-186253138;G/A missense_variant False DGKG@p.M746V 1 0.107142857 ENSG00000058866 chr3:186161644-186161644;T/C missense_variant False DGKZ@p.R7K 1 0.233333333 ENSG00000149091 chr11:46366276-46366276;G/A missense_variant False DGLUCY@p.I453M 1 0.08490566 ENSG00000133943 chr14:91199835-91199835;C/G missense_variant False DGLUCY@p.M166I 1 0.454545455 ENSG00000133943 chr14:91173345-91173345;G/A missense_variant False DHRSX@p.A104Lfs*3 1 0.20855615 ENSG00000292338 chrX:2291580-2291580;C/- frameshift_variant False DHTKD1@p.G98Dfs*9 1 0.103773585 ENSG00000181192 chr10:12081608-12081608;G/- frameshift_variant False DHTKD1@p.D570H 1 0.456090652 ENSG00000181192 chr10:12100214-12100214;G/C missense_variant False DHRSX@p.V181I 1 0.521551724 ENSG00000292338 chrX:2266795-2266795;C/T missense_variant False DHRSX@p.R44H 1 0.405660377 ENSG00000292338 chrX:2425283-2425283;C/T missense_variant False DHRSX@p.G54C 1 0.425925926 ENSG00000292338 chrX:2425254-2425254;C/A missense_variant False DHRSX@p.A104T 1 0.549019608 ENSG00000292338 chrX:2291580-2291580;C/T missense_variant False DHRS9@p.K153N 1 0.191780822 ENSG00000073737 chr2:169083474-169083474;G/T missense_variant False DHRS7B@p.E128K 1 0.418918919 ENSG00000109016 chr17:21183666-21183666;G/A missense_variant False DHRS9@p.G36E 1 0.223880597 ENSG00000073737 chr2:169081688-169081688;G/A missense_variant False DHRS9@p.E244K 1 0.066666667 ENSG00000073737 chr2:169091947-169091947;G/A missense_variant False DHRS9@p.D83V 1 0.173913043 ENSG00000073737 chr2:169081829-169081829;A/T missense_variant False DHRS9@p.D129N 1 0.113475177 ENSG00000073737 chr2:169083400-169083400;G/A missense_variant False DHRS7C@p.L81F 1 0.226415094 ENSG00000184544 chr17:9781506-9781506;C/G missense_variant False DHRS7C@p.E257Q 1 0.285714286 ENSG00000184544 chr17:9771658-9771658;C/G missense_variant False DHTKD1@p.H699D 1 0.441860465 ENSG00000181192 chr10:12107956-12107956;C/G missense_variant False DHTKD1@p.K826R 1 0.049668874 ENSG00000181192 chr10:12118823-12118823;A/G missense_variant False DHTKD1@p.R58T 1 0.710280374 ENSG00000181192 chr10:12081490-12081490;G/C missense_variant False DHTKD1@p.S777L 1 0.256756757 ENSG00000181192 chr10:12117683-12117683;C/T missense_variant False DHTKD1@p.T787I 1 0.530201342 ENSG00000181192 chr10:12117713-12117713;C/T missense_variant False DHX15@p.I451N 1 0.133333333 ENSG00000109606 chr4:24542006-24542006;A/T missense_variant False DHX15@p.L77F 1 0.04964539 ENSG00000109606 chr4:24576519-24576519;C/G missense_variant False DHX15@p.M212L 1 0.362068966 ENSG00000109606 chr4:24570721-24570721;T/A missense_variant False DHX15@p.M615I 1 0.351351351 ENSG00000109606 chr4:24537115-24537115;C/T missense_variant False DHX15@p.Q788E 1 0.072727273 ENSG00000109606 chr4:24527950-24527950;G/C missense_variant False DHX15@p.S15C 1 0.4 ENSG00000109606 chr4:24584350-24584350;G/C missense_variant False DHX15@p.S292I 1 0.117647059 ENSG00000109606 chr4:24554930-24554930;C/A missense_variant False DHX15@p.V453L 1 0.3125 ENSG00000109606 chr4:24542001-24542001;C/G missense_variant False DHX16@p.A1018T 1 0.462686567 ENSG00000204560 chr6:30653316-30653316;C/T missense_variant False DHX16@p.D566N 1 0.215053763 ENSG00000204560 chr6:30660091-30660091;C/T missense_variant False DHX16@p.L436I 1 0.135135135 ENSG00000204560 chr6:30664812-30664812;G/T missense_variant False DHX16@p.M997I 1 0.414728682 ENSG00000204560 chr6:30654712-30654712;C/T missense_variant False DHRS7B@p.S295F 1 0.237623762 ENSG00000109016 chr17:21191059-21191059;C/T missense_variant False DHRS7@p.G61A 1 0.388235294 ENSG00000100612 chr14:60156104-60156104;C/G missense_variant False DGUOK@p.E141Q 1 0.153846154 ENSG00000114956 chr2:73946884-73946884;G/C missense_variant False DHDDS@p.K266N 1 0.148148148 ENSG00000117682 chr1:26468927-26468927;G/C missense_variant False DHFR2@p.N127K 1 0.509803922 ENSG00000178700 chr3:94061131-94061131;A/T missense_variant False DHDH@p.Q22R 1 0.80952381 ENSG00000104808 chr19:48933786-48933786;A/G missense_variant False DHDH@p.L215F 1 0.24137931 ENSG00000104808 chr19:48942463-48942463;C/T missense_variant False DHDDS@p.Y145F 1 0.435028249 ENSG00000117682 chr1:26446426-26446426;A/T missense_variant False DHDDS@p.S303Gfs*20 1 0.12 ENSG00000117682 chr1:26469033-26469034;CT/- frameshift_variant False DHDDS@p.R305T 1 0.435897436 ENSG00000117682 chr1:26469043-26469043;G/C missense_variant False DHDDS@p.H251D 1 0.235897436 ENSG00000117682 chr1:26460130-26460130;C/G missense_variant False DHRS7@p.G235A 1 0.121212121 ENSG00000100612 chr14:60150117-60150117;C/G missense_variant False DHDDS@p.E242K 1 0.142857143 ENSG00000117682 chr1:26460103-26460103;G/A missense_variant False DHCR7@p.S381C 1 0.133333333 ENSG00000172893 chr11:71435661-71435661;G/C missense_variant False DHCR7@p.R207K 1 0.204545455 ENSG00000172893 chr11:71441233-71441233;C/T missense_variant False DHCR7@p.E379K 1 0.222222222 ENSG00000172893 chr11:71435668-71435668;C/T missense_variant False DHCR24@p.M284I 1 0.346153846 ENSG00000116133 chr1:54871374-54871374;C/T missense_variant False DHCR24@p.D47N 1 0.28 ENSG00000116133 chr1:54886981-54886981;C/T missense_variant False DHPS@p.A144V 1 0.326732673 ENSG00000095059 chr19:12679864-12679864;G/A missense_variant False DHPS@p.F49L 1 0.234375 ENSG00000095059 chr19:12681620-12681620;G/T missense_variant False DHPS@p.S4F 1 0.214285714 ENSG00000095059 chr19:12681756-12681756;G/A missense_variant False DHRS11@p.K212R 1 0.342857143 ENSG00000278535 chr17:36599723-36599723;A/G missense_variant False DHRS11@p.Q252H 1 0.208333333 ENSG00000278535 chr17:36600176-36600176;G/C missense_variant False DHRS11@p.S82L 1 0.446902655 ENSG00000278535 chr17:36595068-36595068;C/T missense_variant False DHRS12@p.E23K 1 0.43718593 ENSG00000102796 chr13:51799657-51799657;C/T missense_variant False DHRS2@p.G216E 1 0.1 ENSG00000100867 chr14:23644515-23644515;G/A missense_variant False DHRS2@p.G216R 1 0.098901099 ENSG00000100867 chr14:23644514-23644514;G/A missense_variant False DHRS2@p.G60E 1 0.182291667 ENSG00000100867 chr14:23639217-23639217;G/A missense_variant False DHRS3@p.R111W 1 0.253333333 ENSG00000162496 chr1:12580531-12580531;G/A missense_variant False DHRS3@p.V126L 1 0.431372549 ENSG00000162496 chr1:12579376-12579376;C/G missense_variant False DHRS4@p.E235K 1 0.315789474 ENSG00000157326 chr14:23967247-23967247;G/A missense_variant False DHRS4@p.E258K 1 0.275862069 ENSG00000157326 chr14:23968806-23968806;G/A missense_variant False DHRS4L2@p.P181S 1 0.209302326 ENSG00000187630 chr14:24001393-24001393;C/T missense_variant False DHRS4L2@p.Q67H 1 0.157142857 ENSG00000187630 chr14:23990254-23990254;G/C missense_variant False DHRS7@p.E119K 1 0.150326797 ENSG00000100612 chr14:60153997-60153997;C/T missense_variant False DGKB@p.G670A 1 0.069767442 ENSG00000136267 chr7:14338631-14338631;C/G missense_variant False DGKB@p.E74K 1 0.5 ENSG00000136267 chr7:14736143-14736143;C/T missense_variant False DGKB@p.E702D 1 0.058333333 ENSG00000136267 chr7:14338534-14338534;C/G missense_variant False DENND4B@p.P183S 1 0.072727273 ENSG00000198837 chr1:153942901-153942901;G/A missense_variant False DENND4C@p.E1269K 1 0.138613861 ENSG00000137145 chr9:19346574-19346574;G/A missense_variant False DENND4C@p.D245N 1 0.135135135 ENSG00000137145 chr9:19290808-19290808;G/A missense_variant False DENND4B@p.S1071Y 1 0.4 ENSG00000198837 chr1:153933601-153933601;G/T missense_variant False DENND4B@p.R968Q 1 0.266666667 ENSG00000198837 chr1:153934173-153934173;C/T missense_variant False DENND4B@p.R1161H 1 0.298507463 ENSG00000198837 chr1:153933002-153933002;C/T missense_variant False DENND4B@p.R1101W 1 0.258064516 ENSG00000198837 chr1:153933512-153933512;G/A missense_variant False DENND4B@p.G676E 1 0.133640553 ENSG00000198837 chr1:153937802-153937802;C/T missense_variant False DENND4B@p.D1485N 1 0.265306122 ENSG00000198837 chr1:153930335-153930335;C/T missense_variant False DENND4B@p.E761Q 1 0.346153846 ENSG00000198837 chr1:153936700-153936700;C/G missense_variant False DENND4B@p.E761K 1 0.347826087 ENSG00000198837 chr1:153936700-153936700;C/T missense_variant False DENND4B@p.E719Q 1 0.19047619 ENSG00000198837 chr1:153937565-153937565;C/G missense_variant False DENND4B@p.E715Q 1 0.175 ENSG00000198837 chr1:153937577-153937577;C/G missense_variant False DENND4B@p.E635Q 1 0.545454545 ENSG00000198837 chr1:153938962-153938962;C/G missense_variant False DENND4B@p.E152K 1 0.277777778 ENSG00000198837 chr1:153942994-153942994;C/T missense_variant False DENND4C@p.E986K 1 0.14516129 ENSG00000137145 chr9:19341066-19341066;G/A missense_variant False DENND4C@p.G641E 1 0.247282609 ENSG00000137145 chr9:19324476-19324476;G/A missense_variant False DENND4C@p.H1759Y 1 0.789473684 ENSG00000137145 chr9:19360358-19360358;C/T missense_variant False DENND4C@p.K1076N 1 0.243902439 ENSG00000137145 chr9:19345997-19345997;G/C missense_variant False DENND4C@p.K1230N 1 0.15 ENSG00000137145 chr9:19346459-19346459;G/C missense_variant False DENND4C@p.L574V 1 0.644927536 ENSG00000137145 chr9:19316752-19316752;T/G missense_variant False DENND4C@p.L725F 1 0.268041237 ENSG00000137145 chr9:19328084-19328084;G/C missense_variant False DENND4C@p.P695L 1 0.477272727 ENSG00000137145 chr9:19326158-19326158;C/T missense_variant False DENND4C@p.P795R 1 0.208791209 ENSG00000137145 chr9:19332108-19332108;C/G missense_variant False DENND4C@p.R281W 1 0.345323741 ENSG00000137145 chr9:19296047-19296047;C/T missense_variant False DENND4C@p.R578T 1 0.181818182 ENSG00000137145 chr9:19316765-19316765;G/C missense_variant False DENND4C@p.R610C 1 0.296296296 ENSG00000137145 chr9:19324382-19324382;C/T missense_variant False DENND4C@p.S1602C 1 0.170454545 ENSG00000137145 chr9:19356995-19356995;C/G missense_variant False DENND4C@p.T1709A 1 0.445783133 ENSG00000137145 chr9:19358125-19358125;A/G missense_variant False DENND4C@p.T309A 1 0.330827068 ENSG00000137145 chr9:19296131-19296131;A/G missense_variant False DENND5A@p.D676N 1 0.11971831 ENSG00000184014 chr11:9170658-9170658;C/T missense_variant False DENND5A@p.E722K 1 0.204081633 ENSG00000184014 chr11:9165955-9165955;C/T missense_variant False DENND4B@p.E1470K 1 0.195652174 ENSG00000198837 chr1:153930380-153930380;C/T missense_variant False DENND4B@p.C1187Y 1 0.1 ENSG00000198837 chr1:153932924-153932924;C/T missense_variant False DENND5A@p.R129W 1 0.361111111 ENSG00000184014 chr11:9204224-9204224;G/A missense_variant False DENND2C@p.E905K 1 0.451923077 ENSG00000175984 chr1:114587429-114587429;C/T missense_variant False DENND3@p.F673L 1 0.194029851 ENSG00000105339 chr8:141168509-141168509;C/G missense_variant False DENND3@p.E56K 1 0.230769231 ENSG00000105339 chr8:141138042-141138042;G/A missense_variant False DENND2D@p.R396W 1 0.198675497 ENSG00000162777 chr1:111188284-111188284;G/A missense_variant False DENND2D@p.L235V 1 0.316666667 ENSG00000162777 chr1:111194669-111194669;G/C missense_variant False DENND2D@p.E455K 1 0.352941176 ENSG00000162777 chr1:111187658-111187658;C/T missense_variant False DENND2C@p.Y237Ifs*3 1 0.095238095 ENSG00000175984 chr1:114625276-114625277;-/T frameshift_variant False DENND2C@p.E65Q 1 0.305882353 ENSG00000175984 chr1:114625792-114625792;C/G missense_variant False DENND4B@p.A281V 1 0.5 ENSG00000198837 chr1:153942082-153942082;G/A missense_variant False DENND2C@p.E492Q 1 0.230769231 ENSG00000175984 chr1:114608769-114608769;C/G missense_variant False DENND2C@p.E484K 1 0.333333333 ENSG00000175984 chr1:114608793-114608793;C/T missense_variant False DENND2C@p.E448K 1 0.280701754 ENSG00000175984 chr1:114611100-114611100;C/T missense_variant False DENND2C@p.D72N 1 0.129186603 ENSG00000175984 chr1:114625771-114625771;C/T missense_variant False DENND2B@p.H871R 1 0.107142857 ENSG00000166444 chr11:8702680-8702680;T/C missense_variant False DENND2B@p.H573Y 1 0.443396226 ENSG00000166444 chr11:8715731-8715731;G/A missense_variant False DENND3@p.P34L 1 0.545454545 ENSG00000105339 chr8:141136747-141136747;C/T missense_variant False DENND3@p.R1031Q 1 0.212121212 ENSG00000105339 chr8:141190370-141190370;G/A missense_variant False DENND3@p.S412C 1 0.398550725 ENSG00000105339 chr8:141165211-141165211;C/G missense_variant False DENND3@p.V106M 1 0.085714286 ENSG00000105339 chr8:141141257-141141257;G/A missense_variant False DENND4A@p.D1309H 1 0.428571429 ENSG00000174485 chr15:65690537-65690537;C/G missense_variant False DENND4A@p.E277K 1 0.533333333 ENSG00000174485 chr15:65737918-65737918;C/T missense_variant False DENND4A@p.E988K 1 0.652173913 ENSG00000174485 chr15:65691500-65691500;C/T missense_variant False DENND4A@p.G1061E 1 0.135135135 ENSG00000174485 chr15:65691280-65691280;C/T missense_variant False DENND4A@p.I52M 1 0.45 ENSG00000174485 chr15:65756295-65756295;G/C missense_variant False DENND4A@p.K885R 1 0.169014085 ENSG00000174485 chr15:65701098-65701098;T/C missense_variant False DENND4A@p.L1651V 1 0.175 ENSG00000174485 chr15:65667607-65667607;A/C missense_variant False DENND4A@p.Q1836E 1 0.222222222 ENSG00000174485 chr15:65661937-65661937;G/C missense_variant False DENND4A@p.S1540C 1 0.266666667 ENSG00000174485 chr15:65669815-65669815;G/C missense_variant False DENND4A@p.S229Y 1 0.348484848 ENSG00000174485 chr15:65738821-65738821;G/T missense_variant False DENND4A@p.S633Y 1 0.344827586 ENSG00000174485 chr15:65715533-65715533;G/T missense_variant False DENND4A@p.T1161P 1 0.32 ENSG00000174485 chr15:65690981-65690981;T/G missense_variant False DENND4A@p.V965I 1 0.181818182 ENSG00000174485 chr15:65696423-65696423;C/T missense_variant False DENND5A@p.Q378E 1 0.129032258 ENSG00000184014 chr11:9193499-9193499;G/C missense_variant False DENND5B@p.E1265Q 1 0.32 ENSG00000170456 chr12:31387635-31387635;C/G missense_variant False DGKB@p.D242N 1 0.227272727 ENSG00000136267 chr7:14685350-14685350;C/T missense_variant False DFFA@p.E143K 1 0.142857143 ENSG00000160049 chr1:10467204-10467204;C/T missense_variant False DFFA@p.R229T 1 0.123595506 ENSG00000160049 chr1:10463155-10463155;C/G missense_variant False DFFA@p.Q286L 1 0.306122449 ENSG00000160049 chr1:10461629-10461629;T/A missense_variant False DFFA@p.Q176K 1 0.191964286 ENSG00000160049 chr1:10463536-10463536;G/T missense_variant False DFFA@p.Q163H 1 0.392857143 ENSG00000160049 chr1:10463573-10463573;C/G missense_variant False DFFA@p.E65Q 1 0.308510638 ENSG00000160049 chr1:10469282-10469282;C/G missense_variant False DFFA@p.E290K 1 0.136363636 ENSG00000160049 chr1:10461618-10461618;C/T missense_variant False DEUP1@p.T104R 1 0.161290323 ENSG00000165325 chr11:93364173-93364173;C/G missense_variant False DERA@p.S265Y 1 0.461538462 ENSG00000023697 chr12:16036275-16036275;C/A missense_variant False DEUP1@p.E325Q 1 0.157894737 ENSG00000165325 chr11:93389057-93389057;G/C missense_variant False DESI2@p.E171K 1 0.304347826 ENSG00000121644 chr1:244705715-244705715;G/A missense_variant False DESI1@p.D73N 1 0.046153846 ENSG00000100418 chr22:41604117-41604117;C/T missense_variant False DES@p.S298L 1 0.277777778 ENSG00000175084 chr2:219420652-219420652;C/T missense_variant False DERL3@p.D96N 1 0.333333333 ENSG00000099958 chr22:23838393-23838393;C/T missense_variant False DERL2@p.R83Q 1 0.102941176 ENSG00000072849 chr17:5481375-5481375;C/T missense_variant False DGAT1@p.M402L 1 0.150943396 ENSG00000185000 chr8:144317066-144317066;T/A missense_variant False DGAT2L6@p.E238Q 1 0.409090909 ENSG00000184210 chrX:70204369-70204369;G/C missense_variant False DGAT2L6@p.E333Q 1 0.47826087 ENSG00000184210 chrX:70205089-70205089;G/C missense_variant False DGAT2L6@p.R83Q 1 0.84 ENSG00000184210 chrX:70199863-70199863;G/A missense_variant False DGCR6L@p.E127Q 1 0.25 ENSG00000128185 chr22:20315470-20315470;C/G missense_variant False DGCR6L@p.E75K 1 0.857142857 ENSG00000128185 chr22:20319687-20319687;C/T missense_variant False DGCR8@p.D228G 1 0.121621622 ENSG00000128191 chr22:20086646-20086646;A/G missense_variant False DGCR8@p.E177D 1 0.122186495 ENSG00000128191 chr22:20086494-20086494;G/C missense_variant False DGCR8@p.E201Q 1 0.101851852 ENSG00000128191 chr22:20086564-20086564;G/C missense_variant False DGCR8@p.E323Q 1 0.072289157 ENSG00000128191 chr22:20089755-20089755;G/C missense_variant False DGCR8@p.N208S 1 0.733333333 ENSG00000128191 chr22:20086586-20086586;A/G missense_variant False DGCR8@p.V159M 1 0.289719626 ENSG00000128191 chr22:20086438-20086438;G/A missense_variant False DGKA@p.E415Q 1 0.240384615 ENSG00000065357 chr12:55941577-55941577;G/C missense_variant False DGKA@p.F730L 1 0.276923077 ENSG00000065357 chr12:55953750-55953750;C/A missense_variant False DGKA@p.G6A 1 0.184210526 ENSG00000065357 chr12:55936520-55936520;G/C missense_variant False DGKA@p.H243Y 1 0.322580645 ENSG00000065357 chr12:55940099-55940099;C/T missense_variant False DGKB@p.A519V 1 0.104477612 ENSG00000136267 chr7:14580918-14580918;G/A missense_variant False DERL1@p.A13T 1 0.416666667 ENSG00000136986 chr8:123042086-123042086;C/T missense_variant False DEPTOR@p.R53T 1 0.141414141 ENSG00000155792 chr8:119928435-119928435;G/C missense_variant False DENND5B@p.E504K 1 0.221649485 ENSG00000170456 chr12:31452059-31452059;C/T missense_variant False DENND5B@p.R1216S 1 0.333333333 ENSG00000170456 chr12:31387782-31387782;G/T missense_variant False DENND6A@p.Q170E 1 0.27826087 ENSG00000174839 chr3:57663641-57663641;G/C missense_variant False DENND6A@p.H183N 1 0.288888889 ENSG00000174839 chr3:57661518-57661518;G/T missense_variant False DENND6A@p.F325L 1 0.255813953 ENSG00000174839 chr3:57645723-57645723;G/C missense_variant False DENND5B@p.V736A 1 0.37037037 ENSG00000170456 chr12:31426324-31426324;A/G missense_variant False DENND5B@p.S669R 1 0.233333333 ENSG00000170456 chr12:31442780-31442780;A/C missense_variant False DENND5B@p.R830K 1 0.129032258 ENSG00000170456 chr12:31415430-31415430;C/T missense_variant False DENND5B@p.P584S 1 0.315789474 ENSG00000170456 chr12:31447649-31447649;G/A missense_variant False DEPTOR@p.M262I 1 0.325 ENSG00000155792 chr8:120001706-120001706;G/A missense_variant False DENND5B@p.M980L 1 0.053191489 ENSG00000170456 chr12:31402509-31402509;T/A missense_variant False DENND5B@p.K876N 1 0.144578313 ENSG00000170456 chr12:31413489-31413489;C/G missense_variant False DENND5B@p.K421N 1 0.386363636 ENSG00000170456 chr12:31452306-31452306;C/G missense_variant False DENND5B@p.I393M 1 0.212765957 ENSG00000170456 chr12:31452390-31452390;G/C missense_variant False DENND5B@p.G1266E 1 0.378787879 ENSG00000170456 chr12:31387631-31387631;C/T missense_variant False DENND5B@p.E68K 1 0.551724138 ENSG00000170456 chr12:31495845-31495845;C/T missense_variant False DENND6A@p.V230Wfs*2 1 0.203389831 ENSG00000174839 chr3:57660771-57660771;C/- frameshift_variant False DENND6B@p.L389F 1 0.357142857 ENSG00000205593 chr22:50313852-50313852;G/A missense_variant False DENND6B@p.R398Q 1 0.333333333 ENSG00000205593 chr22:50313824-50313824;C/T missense_variant False DENND6B@p.Y566F 1 0.5 ENSG00000205593 chr22:50312200-50312200;T/A missense_variant False DENR@p.L193I 1 0.254901961 ENSG00000139726 chr12:122769058-122769058;C/A missense_variant False DENR@p.S9I 1 0.136363636 ENSG00000139726 chr12:122753727-122753727;G/T missense_variant False DEPDC1@p.D428H 1 0.085365854 ENSG00000024526 chr1:68482526-68482526;C/G missense_variant False DEPDC1@p.E188Q 1 0.045112782 ENSG00000024526 chr1:68488944-68488944;C/G missense_variant False DEPDC1@p.E272Q 1 0.26 ENSG00000024526 chr1:68484046-68484046;C/G missense_variant False DEPDC1@p.E495K 1 0.2 ENSG00000024526 chr1:68482325-68482325;C/T missense_variant False DEPDC1@p.G152A 1 0.161764706 ENSG00000024526 chr1:68489468-68489468;C/G missense_variant False DEPDC1@p.S327Y 1 0.107142857 ENSG00000024526 chr1:68482828-68482828;G/T missense_variant False DEPDC1B@p.D201V 1 0.150684932 ENSG00000035499 chr5:60644852-60644852;T/A missense_variant False DEPDC1B@p.S430L 1 0.205882353 ENSG00000035499 chr5:60599214-60599214;G/A missense_variant False DEPDC7@p.G440E 1 0.130718954 ENSG00000121690 chr11:33032944-33032944;G/A missense_variant False DEPDC7@p.R61Q 1 0.144 ENSG00000121690 chr11:33025767-33025767;G/A missense_variant False DEPTOR@p.D103H 1 0.661538462 ENSG00000155792 chr8:119929820-119929820;G/C missense_variant False DHX16@p.P544L 1 0.081081081 ENSG00000204560 chr6:30660156-30660156;G/A missense_variant False DHX16@p.Q721E 1 0.287671233 ENSG00000204560 chr6:30656747-30656747;G/C missense_variant False DKK2@p.R230H 1 0.327380952 ENSG00000155011 chr4:106924045-106924045;C/T missense_variant False DIP2A@p.N278S 1 0.118811881 ENSG00000160305 chr21:46509305-46509305;A/G missense_variant False DIP2B@p.L1390V 1 0.220430108 ENSG00000066084 chr12:50737102-50737102;C/G missense_variant False DIP2B@p.L1156V 1 0.284974093 ENSG00000066084 chr12:50727768-50727768;C/G missense_variant False DIP2B@p.I1197M 1 0.168674699 ENSG00000066084 chr12:50728628-50728628;C/G missense_variant False DIP2B@p.G195R 1 0.587155963 ENSG00000066084 chr12:50671341-50671341;G/A missense_variant False DIP2A@p.T505K 1 0.172413793 ENSG00000160305 chr21:46534088-46534088;C/A missense_variant False DIP2A@p.S145F 1 0.121212121 ENSG00000160305 chr21:46498612-46498612;C/T missense_variant False DIP2A@p.E1252Q 1 0.173913043 ENSG00000160305 chr21:46557709-46557709;G/C missense_variant False DIP2B@p.P1079A 1 0.277419355 ENSG00000066084 chr12:50723270-50723270;C/G missense_variant False DIP2A@p.D853N 1 0.275862069 ENSG00000160305 chr21:46549805-46549805;G/A missense_variant False DIO3@p.S283F 1 0.083333333 ENSG00000197406 chr14:101562344-101562344;C/T missense_variant False DIO3@p.S113L 1 0.067961165 ENSG00000197406 chr14:101561834-101561834;C/T missense_variant False DIO3@p.R68G 1 0.166666667 ENSG00000197406 chr14:101561698-101561698;C/G missense_variant False DIO3@p.E83K 1 0.102040816 ENSG00000197406 chr14:101561743-101561743;G/A missense_variant False DIO2@p.R255W 1 0.388888889 ENSG00000211448 chr14:80202748-80202748;G/A missense_variant False DIP2B@p.M361I 1 0.346153846 ENSG00000066084 chr12:50678845-50678845;G/A missense_variant False DIP2B@p.Q1082H 1 0.243589744 ENSG00000066084 chr12:50723281-50723281;G/C missense_variant False DHX16@p.S141F 1 0.583011583 ENSG00000204560 chr6:30671060-30671060;G/A missense_variant False DIP2C@p.G1312E 1 0.333333333 ENSG00000151240 chr10:310082-310082;C/T missense_variant False DIP2C@p.P1313L 1 0.24691358 ENSG00000151240 chr10:310079-310079;G/A missense_variant False DIP2C@p.M797R 1 0.413043478 ENSG00000151240 chr10:364461-364461;A/C missense_variant False DIP2C@p.M680V 1 0.425 ENSG00000151240 chr10:369587-369587;T/C missense_variant False DIP2C@p.L835M 1 0.358490566 ENSG00000151240 chr10:363286-363286;G/T missense_variant False DIP2C@p.K1009N 1 0.428571429 ENSG00000151240 chr10:349413-349413;C/G missense_variant False DIP2C@p.G187R 1 0.145833333 ENSG00000151240 chr10:422869-422869;C/T missense_variant False DIP2C@p.F400L 1 0.134146341 ENSG00000151240 chr10:399169-399169;G/C missense_variant False DIP2B@p.Q320H 1 0.123076923 ENSG00000066084 chr12:50678722-50678722;G/C missense_variant False DIP2C@p.E961K 1 0.430232558 ENSG00000151240 chr10:357851-357851;C/T missense_variant False DIP2C@p.E694K 1 0.173333333 ENSG00000151240 chr10:369545-369545;C/T missense_variant False DIP2C@p.E1012Q 1 0.209090909 ENSG00000151240 chr10:349406-349406;C/G missense_variant False DIP2B@p.S507L 1 0.131578947 ENSG00000066084 chr12:50686651-50686651;C/T missense_variant False DIP2B@p.S186L 1 0.642487047 ENSG00000066084 chr12:50671315-50671315;C/T missense_variant False DIP2B@p.S1330L 1 0.171875 ENSG00000066084 chr12:50734142-50734142;C/T missense_variant False DIMT1@p.F139L 1 0.203125 ENSG00000086189 chr5:62398540-62398540;G/C missense_variant False DIDO1@p.T351I 1 0.401098901 ENSG00000101191 chr20:62909808-62909808;G/A missense_variant False DIDO1@p.S504L 1 0.04845815 ENSG00000101191 chr20:62905964-62905964;G/A missense_variant False DIDO1@p.E1487Q 1 0.157894737 ENSG00000101191 chr20:62881497-62881497;C/G missense_variant False DIDO1@p.E38K 1 0.227272727 ENSG00000101191 chr20:62911501-62911501;C/T missense_variant False DIDO1@p.E301K 1 0.27826087 ENSG00000101191 chr20:62909959-62909959;C/T missense_variant False DIDO1@p.E2003Q 1 0.12195122 ENSG00000101191 chr20:62879949-62879949;C/G missense_variant False DIDO1@p.E199K 1 0.289473684 ENSG00000101191 chr20:62911018-62911018;C/T missense_variant False DIDO1@p.E1844Q 1 0.066115702 ENSG00000101191 chr20:62880426-62880426;C/G missense_variant False DIDO1@p.E1720K 1 0.084468665 ENSG00000101191 chr20:62880798-62880798;C/T missense_variant False DIDO1@p.E1431K 1 0.108974359 ENSG00000101191 chr20:62881665-62881665;C/T missense_variant False DIDO1@p.S1809Y 1 0.173228346 ENSG00000101191 chr20:62880530-62880530;G/T missense_variant False DIDO1@p.D1442H 1 0.331081081 ENSG00000101191 chr20:62881632-62881632;C/G missense_variant False DIDO1@p.D1386N 1 0.082125604 ENSG00000101191 chr20:62881800-62881800;C/T missense_variant False DICER1@p.Y1675F 1 0.31884058 ENSG00000100697 chr14:95095896-95095896;T/A missense_variant False DICER1@p.S887C 1 0.260869565 ENSG00000100697 chr14:95107752-95107752;G/C missense_variant False DICER1@p.S1505C 1 0.297619048 ENSG00000100697 chr14:95096406-95096406;G/C missense_variant False DICER1@p.S1216L 1 0.301886792 ENSG00000100697 chr14:95103749-95103749;G/A missense_variant False DIDO1@p.E696K 1 0.109756098 ENSG00000101191 chr20:62896361-62896361;C/T missense_variant False DIDO1@p.E72K 1 0.537037037 ENSG00000101191 chr20:62911399-62911399;C/T missense_variant False DIDO1@p.E747Q 1 0.248175182 ENSG00000101191 chr20:62895141-62895141;C/G missense_variant False DIDO1@p.E917Q 1 0.285714286 ENSG00000101191 chr20:62894018-62894018;C/G missense_variant False DIDO1@p.F711L 1 0.2875 ENSG00000101191 chr20:62896314-62896314;A/T missense_variant False DIDO1@p.G1259V 1 0.194148936 ENSG00000101191 chr20:62882180-62882180;C/A missense_variant False DIDO1@p.P1264L 1 0.358333333 ENSG00000101191 chr20:62882165-62882165;G/A missense_variant False DIDO1@p.P986L 1 0.253731343 ENSG00000101191 chr20:62893810-62893810;G/A missense_variant False DIDO1@p.Q1064H 1 0.21686747 ENSG00000101191 chr20:62892872-62892872;C/G missense_variant False DIDO1@p.Q1915H 1 0.454545455 ENSG00000101191 chr20:62880211-62880211;C/G missense_variant False DIDO1@p.Q872Tfs*8 1 0.120772947 ENSG00000101191 chr20:62894153-62894154;-/T frameshift_variant False DIDO1@p.R1404Q 1 0.27027027 ENSG00000101191 chr20:62881745-62881745;C/T missense_variant False DIDO1@p.R1412S 1 0.50310559 ENSG00000101191 chr20:62881720-62881720;C/G missense_variant False DIDO1@p.R1824K 1 0.196078431 ENSG00000101191 chr20:62880485-62880485;C/T missense_variant False DIDO1@p.R2115K 1 0.06122449 ENSG00000101191 chr20:62879612-62879612;C/T missense_variant False DIDO1@p.R469T 1 0.925 ENSG00000101191 chr20:62906069-62906069;C/G missense_variant False DIDO1@p.S1621L 1 0.4 ENSG00000101191 chr20:62881094-62881094;G/A missense_variant False DIP2C@p.S218P 1 0.141025641 ENSG00000151240 chr10:419152-419152;A/G missense_variant False DIP2C@p.S80L 1 0.265917603 ENSG00000151240 chr10:472468-472468;G/A missense_variant False DIPK1A@p.P7S 1 0.421052632 ENSG00000154511 chr1:92961411-92961411;G/A missense_variant False DISP2@p.L415V 1 0.232432432 ENSG00000140323 chr15:40367355-40367355;C/G missense_variant False DISP3@p.F108I 1 0.220338983 ENSG00000204624 chr1:11501314-11501314;T/A missense_variant False DISP3@p.E276K 1 0.35483871 ENSG00000204624 chr1:11501818-11501818;G/A missense_variant False DISP2@p.S69F 1 0.243781095 ENSG00000140323 chr15:40363711-40363711;C/T missense_variant False DISP2@p.P96S 1 0.2 ENSG00000140323 chr15:40363791-40363791;C/T missense_variant False DISP2@p.M877I 1 0.290322581 ENSG00000140323 chr15:40368743-40368743;G/A missense_variant False DISP2@p.L690F 1 0.25 ENSG00000140323 chr15:40368180-40368180;C/T missense_variant False DISP2@p.L1110F 1 0.196721311 ENSG00000140323 chr15:40369440-40369440;C/T missense_variant False DISP1@p.H94Y 1 0.244274809 ENSG00000154309 chr1:222943103-222943103;C/T missense_variant False DISP2@p.F824L 1 0.293103448 ENSG00000140323 chr15:40368584-40368584;C/G missense_variant False DISP2@p.E275Q 1 0.276595745 ENSG00000140323 chr15:40365250-40365250;G/C missense_variant False DISP1@p.Y1282C 1 0.082191781 ENSG00000154309 chr1:223005242-223005242;A/G missense_variant False DISP1@p.S1452L 1 0.229508197 ENSG00000154309 chr1:223005752-223005752;C/T missense_variant False DISP1@p.Q1269H 1 0.465686275 ENSG00000154309 chr1:223005204-223005204;G/C missense_variant False DISP1@p.P52S 1 0.225490196 ENSG00000154309 chr1:222942977-222942977;C/T missense_variant False DISP3@p.F970L 1 0.162162162 ENSG00000204624 chr1:11529667-11529667;C/A missense_variant False DISP3@p.I1193M 1 0.470588235 ENSG00000204624 chr1:11535054-11535054;C/G missense_variant False DISP3@p.I152M 1 0.21875 ENSG00000204624 chr1:11501448-11501448;C/G missense_variant False DISP3@p.K194N 1 0.333333333 ENSG00000204624 chr1:11501574-11501574;G/T missense_variant False DISP3@p.Q423Rfs*96 1 0.160714286 ENSG00000204624 chr1:11502848-11502848;C/- frameshift_variant False DISP3@p.Q929R 1 0.267857143 ENSG00000204624 chr1:11526823-11526823;A/G missense_variant False DISP3@p.R135Q 1 0.179487179 ENSG00000204624 chr1:11501396-11501396;G/A missense_variant False DISP3@p.R706C 1 0.209876543 ENSG00000204624 chr1:11519796-11519796;C/T missense_variant False DISP3@p.S145Y 1 0.422222222 ENSG00000204624 chr1:11501426-11501426;C/A missense_variant False DISP3@p.S582F 1 0.2 ENSG00000204624 chr1:11516157-11516157;C/T missense_variant False DISP3@p.V509A 1 0.152777778 ENSG00000204624 chr1:11515441-11515441;T/C missense_variant False DIXDC1@p.A156S 1 0.307692308 ENSG00000150764 chr11:111974172-111974172;G/T missense_variant False DIXDC1@p.E289K 1 0.380952381 ENSG00000150764 chr11:111982434-111982434;G/A missense_variant False DIXDC1@p.S264F 1 0.393939394 ENSG00000150764 chr11:111982360-111982360;C/T missense_variant False DKC1@p.E152Q 1 0.169230769 ENSG00000130826 chrX:154767002-154767002;G/C missense_variant False DKK1@p.S257F 1 0.603773585 ENSG00000107984 chr10:52316776-52316776;C/T missense_variant False DKK2@p.E212K 1 0.083333333 ENSG00000155011 chr4:106924100-106924100;C/T missense_variant False DISP1@p.I1016T 1 0.171428571 ENSG00000154309 chr1:223004444-223004444;T/C missense_variant False DISP1@p.G1047S 1 0.223214286 ENSG00000154309 chr1:223004536-223004536;G/A missense_variant False DIPK1B@p.A320S 1 0.581395349 ENSG00000165716 chr9:136723436-136723436;G/T missense_variant False DIRAS1@p.S77C 1 0.285714286 ENSG00000176490 chr19:2717577-2717577;G/C missense_variant False DIS3@p.S915L 1 0.593406593 ENSG00000083520 chr13:72760578-72760578;G/A missense_variant False DIS3@p.L767F 1 0.234375 ENSG00000083520 chr13:72761964-72761964;T/G missense_variant False DIS3@p.F901L 1 0.666666667 ENSG00000083520 chr13:72760619-72760619;G/T missense_variant False DIS3@p.E206K 1 0.390243902 ENSG00000083520 chr13:72777458-72777458;C/T missense_variant False DIS3@p.D759N 1 0.666666667 ENSG00000083520 chr13:72761990-72761990;C/T missense_variant False DIRAS2@p.R91Q 1 0.394366197 ENSG00000165023 chr9:90613556-90613556;C/T missense_variant False DIPK2B@p.R414T 1 0.901515152 ENSG00000147113 chrX:45151713-45151713;C/G missense_variant False DISP1@p.D187N 1 0.246835443 ENSG00000154309 chr1:222990644-222990644;G/A missense_variant False DIPK2B@p.R205C 1 0.428571429 ENSG00000147113 chrX:45157774-45157774;G/A missense_variant False DIPK2B@p.A403T 1 0.822580645 ENSG00000147113 chrX:45151747-45151747;C/T missense_variant False DIPK2A@p.S34L 1 0.772727273 ENSG00000181744 chr3:143972433-143972433;C/T missense_variant False DIPK2A@p.E75K 1 0.318681319 ENSG00000181744 chr3:143972555-143972555;G/A missense_variant False DIPK1C@p.A366V 1 0.518518519 ENSG00000187773 chr18:74436664-74436664;G/A missense_variant False DIPK1C@p.A360T 1 0.296296296 ENSG00000187773 chr18:74436683-74436683;C/T missense_variant False DIS3@p.V448L 1 0.555555556 ENSG00000083520 chr13:72772737-72772737;C/G missense_variant False DIS3L2@p.D206N 1 0.362068966 ENSG00000144535 chr2:232130633-232130633;G/A missense_variant False DIS3L2@p.D377G 1 0.505882353 ENSG00000144535 chr2:232210331-232210331;A/G missense_variant False DIS3L2@p.S369I 1 0.269230769 ENSG00000144535 chr2:232163614-232163614;G/T missense_variant False DIS3L2@p.T697I 1 0.149122807 ENSG00000144535 chr2:232333919-232333919;C/T missense_variant False DIS3L@p.D965H 1 0.12 ENSG00000166938 chr15:66333040-66333040;G/C missense_variant False DIS3L@p.E133Q 1 0.117647059 ENSG00000166938 chr15:66306927-66306927;G/C missense_variant False DIS3L@p.E460Q 1 0.365079365 ENSG00000166938 chr15:66322738-66322738;G/C missense_variant False DIS3L@p.E683K 1 0.284615385 ENSG00000166938 chr15:66326210-66326210;G/A missense_variant False DIS3L@p.K824E 1 0.08974359 ENSG00000166938 chr15:66329334-66329334;A/G missense_variant False DIS3L@p.Q89E 1 0.285714286 ENSG00000166938 chr15:66295113-66295113;C/G missense_variant False DIS3L@p.S912L 1 0.411214953 ENSG00000166938 chr15:66332789-66332789;C/T missense_variant False DISC1@p.E652K 1 0.203252033 ENSG00000162946 chr1:231818490-231818490;G/A missense_variant False DISC1@p.R260P 1 0.391304348 ENSG00000162946 chr1:231694537-231694537;G/C missense_variant False DISC1@p.S425I 1 0.393939394 ENSG00000162946 chr1:231767145-231767145;G/T missense_variant False DISC1@p.S759F 1 0.058823529 ENSG00000162946 chr1:232009018-232009018;C/T missense_variant False DISC1@p.W752L 1 0.140350877 ENSG00000162946 chr1:232008997-232008997;G/T missense_variant False DICER1@p.R654K 1 0.47761194 ENSG00000100697 chr14:95113171-95113171;C/T missense_variant False DICER1@p.R385C 1 0.394230769 ENSG00000100697 chr14:95124419-95124419;G/A missense_variant False DICER1@p.Q1148E 1 0.648148148 ENSG00000100697 chr14:95103954-95103954;G/C missense_variant False DHX36@p.E820K 1 0.264705882 ENSG00000174953 chr3:154280781-154280781;C/T missense_variant False DHX36@p.P409A 1 0.198924731 ENSG00000174953 chr3:154301120-154301120;G/C missense_variant False DHX36@p.I157M 1 0.098039216 ENSG00000174953 chr3:154315178-154315178;G/C missense_variant False DHX36@p.G703E 1 0.302325581 ENSG00000174953 chr3:154284911-154284911;C/T missense_variant False DHX36@p.G23A 1 0.176470588 ENSG00000174953 chr3:154324349-154324349;C/G missense_variant False DHX36@p.E932Q 1 0.176470588 ENSG00000174953 chr3:154276794-154276794;C/G missense_variant False DHX36@p.E89K 1 0.148148148 ENSG00000174953 chr3:154316142-154316142;C/T missense_variant False DHX36@p.D187H 1 0.183673469 ENSG00000174953 chr3:154315090-154315090;C/G missense_variant False DHX34@p.R669C 1 0.352941176 ENSG00000134815 chr19:47373641-47373641;C/T missense_variant False DHX35@p.V380M 1 0.288461538 ENSG00000101452 chr20:39006272-39006272;G/A missense_variant False DHX35@p.V291L 1 0.181818182 ENSG00000101452 chr20:39003767-39003767;G/T missense_variant False DHX35@p.R203G 1 0.08988764 ENSG00000101452 chr20:38994845-38994845;C/G missense_variant False DHX35@p.M548I 1 0.174603175 ENSG00000101452 chr20:39023740-39023740;G/A missense_variant False DHX35@p.H530N 1 0.425414365 ENSG00000101452 chr20:39021930-39021930;C/A missense_variant False DHX34@p.T115M 1 0.137931034 ENSG00000134815 chr19:47353374-47353374;C/T missense_variant False DHX36@p.Q424R 1 0.414965986 ENSG00000174953 chr3:154301074-154301074;T/C missense_variant False DHX37@p.E1056Q 1 0.208333333 ENSG00000150990 chr12:124950199-124950199;C/G missense_variant False DHX37@p.E560Q 1 0.316455696 ENSG00000150990 chr12:124965725-124965725;C/G missense_variant False DHX37@p.K525N 1 0.287356322 ENSG00000150990 chr12:124966808-124966808;C/G missense_variant False DHX37@p.P916L 1 0.291666667 ENSG00000150990 chr12:124952519-124952519;G/A missense_variant False DHX37@p.V635M 1 0.463414634 ENSG00000150990 chr12:124964536-124964536;C/T missense_variant False DHX38@p.A932T 1 0.75 ENSG00000140829 chr16:72107533-72107533;G/A missense_variant False DHX38@p.D264Y 1 0.25 ENSG00000140829 chr16:72098952-72098952;G/T missense_variant False DHX38@p.E456Sfs*23 1 0.284090909 ENSG00000140829 chr16:72101171-72101171;G/- frameshift_variant False DHX38@p.I790M 1 0.111111111 ENSG00000140829 chr16:72105339-72105339;C/G missense_variant False DHX38@p.R111W 1 0.0546875 ENSG00000140829 chr16:72096829-72096829;C/T missense_variant False DHX38@p.R675H 1 0.208333333 ENSG00000140829 chr16:72104499-72104499;G/A missense_variant False DHX40@p.D307H 1 0.258823529 ENSG00000108406 chr17:59575417-59575417;G/C missense_variant False DHX40@p.E612K 1 0.232758621 ENSG00000108406 chr17:59602549-59602549;G/A missense_variant False DHX40@p.G47R 1 0.454545455 ENSG00000108406 chr17:59566653-59566653;G/A missense_variant False DHX40@p.P490A 1 0.227272727 ENSG00000108406 chr17:59587939-59587939;C/G missense_variant False DHX40@p.R746T 1 0.196078431 ENSG00000108406 chr17:59607069-59607069;G/C missense_variant False DHX34@p.R938L 1 0.591304348 ENSG00000134815 chr19:47379816-47379816;G/T missense_variant False DHX34@p.R135G 1 0.078947368 ENSG00000134815 chr19:47353433-47353433;C/G missense_variant False DHX57@p.E551K 1 0.324324324 ENSG00000163214 chr2:38856398-38856398;C/T missense_variant False DHX29@p.L732I 1 0.144578313 ENSG00000067248 chr5:55277198-55277198;G/T missense_variant False DHX30@p.F1041L 1 0.272727273 ENSG00000132153 chr3:47849486-47849486;C/G missense_variant False DHX30@p.D233N 1 0.348837209 ENSG00000132153 chr3:47841645-47841645;G/A missense_variant False DHX29@p.S964Y 1 0.324675325 ENSG00000067248 chr5:55270680-55270680;G/T missense_variant False DHX29@p.R97I 1 0.15 ENSG00000067248 chr5:55297370-55297370;C/A missense_variant False DHX29@p.R514T 1 0.113989637 ENSG00000067248 chr5:55283627-55283627;C/G missense_variant False DHX29@p.Q288E 1 0.25 ENSG00000067248 chr5:55290263-55290263;G/C missense_variant False DHX29@p.L1363F 1 0.183673469 ENSG00000067248 chr5:55256509-55256509;C/G missense_variant False DHX34@p.P516A 1 0.220588235 ENSG00000134815 chr19:47362646-47362646;C/G missense_variant False DHX29@p.K123Nfs*23 1 0.224489796 ENSG00000067248 chr5:55297291-55297291;T/- frameshift_variant False DHX29@p.G100A 1 0.458333333 ENSG00000067248 chr5:55297361-55297361;C/G missense_variant False DHX29@p.E953Q 1 0.58974359 ENSG00000067248 chr5:55272094-55272094;C/G missense_variant False DHX29@p.E547K 1 0.064516129 ENSG00000067248 chr5:55283529-55283529;C/T missense_variant False DHX29@p.E352K 1 0.114285714 ENSG00000067248 chr5:55289282-55289282;C/T missense_variant False DHX29@p.E1107D 1 0.466666667 ENSG00000067248 chr5:55267796-55267796;C/A missense_variant False DHX30@p.F534L 1 0.140625 ENSG00000132153 chr3:47846674-47846674;C/G missense_variant False DHX30@p.Q379H 1 0.345360825 ENSG00000132153 chr3:47846209-47846209;G/C missense_variant False DHX30@p.R480Q 1 0.326241135 ENSG00000132153 chr3:47846511-47846511;G/A missense_variant False DHX30@p.S904F 1 0.169491525 ENSG00000132153 chr3:47848759-47848759;C/T missense_variant False DHX32@p.E324K 1 0.111111111 ENSG00000089876 chr10:125854083-125854083;C/T missense_variant False DHX32@p.E735K 1 0.275862069 ENSG00000089876 chr10:125836716-125836716;C/T missense_variant False DHX32@p.L201F 1 0.438356164 ENSG00000089876 chr10:125859851-125859851;G/A missense_variant False DHX32@p.L455F 1 0.153846154 ENSG00000089876 chr10:125841921-125841921;C/G missense_variant False DHX32@p.S317L 1 0.2 ENSG00000089876 chr10:125854103-125854103;G/A missense_variant False DHX33@p.E581D 1 0.346153846 ENSG00000005100 chr17:5448881-5448881;C/A missense_variant False DHX33@p.V209L 1 0.061538462 ENSG00000005100 chr17:5462372-5462372;C/G missense_variant False DHX33@p.V276L 1 0.094736842 ENSG00000005100 chr17:5460962-5460962;C/G missense_variant False DHX34@p.A931G 1 0.208695652 ENSG00000134815 chr19:47379795-47379795;C/G missense_variant False DHX34@p.E795K 1 0.161290323 ENSG00000134815 chr19:47375999-47375999;G/A missense_variant False DHX34@p.G1097R 1 0.192982456 ENSG00000134815 chr19:47381315-47381315;G/A missense_variant False DHX34@p.G498A 1 0.276595745 ENSG00000134815 chr19:47362593-47362593;G/C missense_variant False DHX34@p.L286I 1 0.25 ENSG00000134815 chr19:47355189-47355189;C/A missense_variant False DHX57@p.D340H 1 0.333333333 ENSG00000163214 chr2:38861392-38861392;C/G missense_variant False DHX57@p.E836K 1 0.39 ENSG00000163214 chr2:38837867-38837867;C/T missense_variant False DICER1@p.Q1135E 1 0.246376812 ENSG00000100697 chr14:95103993-95103993;G/C missense_variant False DIAPH2@p.L1059F 1 0.205128205 ENSG00000147202 chrX:97429679-97429679;C/T missense_variant False DIAPH2@p.Q376L 1 0.692307692 ENSG00000147202 chrX:96937270-96937270;A/T missense_variant False DIAPH2@p.Q376E 1 0.583333333 ENSG00000147202 chrX:96937269-96937269;C/G missense_variant False DIAPH2@p.P194L 1 0.580645161 ENSG00000147202 chrX:96881712-96881712;C/T missense_variant False DIAPH2@p.M241I 1 0.64 ENSG00000147202 chrX:96912543-96912543;G/A missense_variant False DIAPH2@p.M113I 1 0.098039216 ENSG00000147202 chrX:96738759-96738759;G/C missense_variant False DIAPH2@p.L1087S 1 0.285714286 ENSG00000147202 chrX:97599271-97599271;T/C missense_variant False DIAPH2@p.I284S 1 0.117647059 ENSG00000147202 chrX:96916556-96916556;T/G missense_variant False DIAPH1@p.D357N 1 0.382352941 ENSG00000131504 chr5:141578319-141578319;C/T missense_variant False DIAPH2@p.G1066D 1 0.681818182 ENSG00000147202 chrX:97429701-97429701;G/A missense_variant False DIAPH2@p.E766D 1 0.862068966 ENSG00000147202 chrX:97099744-97099744;G/C missense_variant False DIAPH2@p.D663N 1 0.4 ENSG00000147202 chrX:96965144-96965144;G/A missense_variant False DIAPH2@p.A335D 1 0.129032258 ENSG00000147202 chrX:96930758-96930758;C/A missense_variant False DIAPH1@p.S264C 1 0.202531646 ENSG00000131504 chr5:141580777-141580777;G/C missense_variant False DIAPH1@p.Q1098P 1 0.202898551 ENSG00000131504 chr5:141526442-141526442;T/G missense_variant False DIAPH2@p.S280Y 1 0.327586207 ENSG00000147202 chrX:96916544-96916544;C/A missense_variant False DIAPH2@p.T818Ifs*5 1 0.175 ENSG00000147202 chrX:97114828-97114829;-/T frameshift_variant False DIAPH3@p.E1153K 1 0.314285714 ENSG00000139734 chr13:59666709-59666709;C/T missense_variant False DIAPH3@p.G215Dfs*9 1 0.153846154 ENSG00000139734 chr13:60016128-60016128;C/- frameshift_variant False DIAPH3@p.P615T 1 0.255319149 ENSG00000139734 chr13:59970968-59970968;G/T missense_variant False DIAPH3@p.P88S 1 0.434108527 ENSG00000139734 chr13:60112138-60112138;G/A missense_variant False DIAPH3@p.R1098W 1 0.097560976 ENSG00000139734 chr13:59774216-59774216;T/A missense_variant False DICER1@p.A1039G 1 0.058823529 ENSG00000100697 chr14:95105224-95105224;G/C missense_variant False DICER1@p.A54T 1 0.413043478 ENSG00000100697 chr14:95132662-95132662;C/T missense_variant False DICER1@p.D1709N 1 0.456790123 ENSG00000100697 chr14:95094127-95094127;C/T missense_variant False DICER1@p.E1520Q 1 0.179487179 ENSG00000100697 chr14:95096362-95096362;C/G missense_variant False DICER1@p.E1532G 1 0.428571429 ENSG00000100697 chr14:95096325-95096325;T/C missense_variant False DICER1@p.I1467M 1 0.274193548 ENSG00000100697 chr14:95096519-95096519;G/C missense_variant False DICER1@p.K1601N 1 0.276190476 ENSG00000100697 chr14:95096117-95096117;C/G missense_variant False DICER1@p.L159F 1 0.142857143 ENSG00000100697 chr14:95130154-95130154;C/G missense_variant False DICER1@p.L667V 1 0.085365854 ENSG00000100697 chr14:95113133-95113133;G/C missense_variant False DICER1@p.N1742S 1 0.354166667 ENSG00000100697 chr14:95094027-95094027;T/C missense_variant False DIAPH1@p.P749S 1 0.3 ENSG00000131504 chr5:141573605-141573605;G/A missense_variant False DIABLO@p.E158Q 1 0.325 ENSG00000184047 chr12:122208410-122208410;C/G missense_variant False DHX57@p.F873S 1 0.205128205 ENSG00000163214 chr2:38828361-38828361;A/G missense_variant False DHX8@p.D1087N 1 0.24742268 ENSG00000067596 chr17:43521561-43521561;G/A missense_variant False DHX8@p.G591A 1 0.633928571 ENSG00000067596 chr17:43507046-43507046;G/C missense_variant False DHX8@p.F1111L 1 0.604166667 ENSG00000067596 chr17:43522116-43522116;C/G missense_variant False DHX8@p.E745K 1 0.116071429 ENSG00000067596 chr17:43507932-43507932;G/A missense_variant False DHX8@p.E560Q 1 0.196319018 ENSG00000067596 chr17:43504775-43504775;G/C missense_variant False DHX8@p.E421K 1 0.465517241 ENSG00000067596 chr17:43496229-43496229;G/A missense_variant False DHX8@p.E1004K 1 0.166666667 ENSG00000067596 chr17:43520823-43520823;G/A missense_variant False DHX58@p.Y36H 1 0.094117647 ENSG00000108771 chr17:42111787-42111787;A/G missense_variant False DHX9@p.T665A 1 0.25 ENSG00000135829 chr1:182876227-182876227;A/G missense_variant False DHX58@p.T167I 1 0.477272727 ENSG00000108771 chr17:42110784-42110784;G/A missense_variant False DHX58@p.E132K 1 0.269230769 ENSG00000108771 chr17:42110890-42110890;C/T missense_variant False DHX57@p.S1268L 1 0.47133758 ENSG00000163214 chr2:38806572-38806572;G/A missense_variant False DHX57@p.R526P 1 0.177927928 ENSG00000163214 chr2:38858671-38858671;C/G missense_variant False DHX57@p.R358Q 1 0.309090909 ENSG00000163214 chr2:38861337-38861337;C/T missense_variant False DHX57@p.G841V 1 0.230769231 ENSG00000163214 chr2:38837851-38837851;C/A missense_variant False DHX8@p.K991R 1 0.567567568 ENSG00000067596 chr17:43520785-43520785;A/G missense_variant False DHX8@p.Q1015H 1 0.145833333 ENSG00000067596 chr17:43520858-43520858;G/C missense_variant False DHX8@p.R163T 1 0.218181818 ENSG00000067596 chr17:43492277-43492277;G/C missense_variant False DHX8@p.R796T 1 0.068965517 ENSG00000067596 chr17:43508405-43508405;G/C missense_variant False DHX9@p.A885P 1 0.230337079 ENSG00000135829 chr1:182881292-182881292;G/C missense_variant False DHX9@p.A928G 1 0.203389831 ENSG00000135829 chr1:182881422-182881422;C/G missense_variant False DHX9@p.C872Vfs*45 1 0.298245614 ENSG00000135829 chr1:182880594-182880594;G/- frameshift_variant False DHX9@p.E302G 1 0.080357143 ENSG00000135829 chr1:182858737-182858737;A/G missense_variant False DHX9@p.G142E 1 0.23902439 ENSG00000135829 chr1:182853366-182853366;G/A missense_variant False DHX9@p.H173Y 1 0.194444444 ENSG00000135829 chr1:182854069-182854069;C/T missense_variant False DHX9@p.I880M 1 0.149350649 ENSG00000135829 chr1:182881279-182881279;C/G missense_variant False DHX9@p.K1073N 1 0.232 ENSG00000135829 chr1:182883594-182883594;G/C missense_variant False DHX9@p.M1134I 1 0.4375 ENSG00000135829 chr1:182884754-182884754;G/A missense_variant False DHX9@p.P701S 1 0.434782609 ENSG00000135829 chr1:182876518-182876518;C/T missense_variant False DHX9@p.Q155E 1 0.157303371 ENSG00000135829 chr1:182853404-182853404;C/G missense_variant False DHX9@p.R71Q 1 0.141509434 ENSG00000135829 chr1:182843394-182843394;G/A missense_variant False DHX9@p.S625C 1 0.376146789 ENSG00000135829 chr1:182876108-182876108;C/G missense_variant False DNAH7@p.D3952H 1 0.234567901 ENSG00000118997 chr2:195740780-195740780;C/G missense_variant False DNAH7@p.E3908K 1 0.419354839 ENSG00000118997 chr2:195754379-195754379;C/T missense_variant False DENND2B@p.G205R 1 0.333333333 ENSG00000166444 chr11:8730677-8730677;C/G missense_variant False DSCAM@p.D1242N 1 0.343283582 ENSG00000171587 chr21:40093847-40093847;C/T missense_variant False DSCAM@p.E981K 1 0.425925926 ENSG00000171587 chr21:40178933-40178933;C/T missense_variant False DSCAM@p.E1782D 1 0.338461538 ENSG00000171587 chr21:40044115-40044115;C/A missense_variant False DSCAM@p.E1676Q 1 0.223404255 ENSG00000171587 chr21:40055734-40055734;C/G missense_variant False DSCAM@p.E1482K 1 0.306818182 ENSG00000171587 chr21:40078954-40078954;C/T missense_variant False DSCAM@p.E1369K 1 0.19047619 ENSG00000171587 chr21:40085629-40085629;C/T missense_variant False DSCAM@p.E1186Q 1 0.142857143 ENSG00000171587 chr21:40133860-40133860;C/G missense_variant False DSCAM@p.A1316T 1 0.255319149 ENSG00000171587 chr21:40087192-40087192;C/T missense_variant False DSCAM@p.G71R 1 0.412556054 ENSG00000171587 chr21:40708604-40708604;C/T missense_variant False DSC3@p.V264Wfs*17 1 0.166666667 ENSG00000134762 chr18:31022488-31022488;C/- frameshift_variant False DSC3@p.T737S 1 0.277777778 ENSG00000134762 chr18:31001644-31001644;T/A missense_variant False DSC3@p.S735L 1 0.222222222 ENSG00000134762 chr18:31001649-31001649;G/A missense_variant False DSC3@p.S624N 1 0.296296296 ENSG00000134762 chr18:31006924-31006924;C/T missense_variant False DSC3@p.S488L 1 0.2 ENSG00000134762 chr18:31008326-31008326;G/A missense_variant False DSC3@p.L533Gfs*18 1 0.625 ENSG00000134762 chr18:31008077-31008083;ATCCAGG/- frameshift_variant False DSCAM@p.G1406S 1 0.655172414 ENSG00000171587 chr21:40083923-40083923;C/T missense_variant False DSCAM@p.L782P 1 0.267241379 ENSG00000171587 chr21:40276108-40276108;A/G missense_variant False DSP@p.L1563V 1 0.366666667 ENSG00000096696 chr6:7580877-7580877;C/G missense_variant False DSCAML1@p.A766P 1 0.21 ENSG00000177103 chr11:117504990-117504990;C/G missense_variant False DSCAML1@p.F993L 1 0.078125 ENSG00000177103 chr11:117472023-117472023;G/C missense_variant False DSCAML1@p.E413K 1 0.54679803 ENSG00000177103 chr11:117521286-117521286;C/T missense_variant False DSCAML1@p.E1839Q 1 0.258426966 ENSG00000177103 chr11:117431573-117431573;C/G missense_variant False DSCAML1@p.E1486Q 1 0.3 ENSG00000177103 chr11:117438051-117438051;C/G missense_variant False DSCAML1@p.D1738N 1 0.077777778 ENSG00000177103 chr11:117432499-117432499;C/T missense_variant False DSCAML1@p.D1196N 1 0.373333333 ENSG00000177103 chr11:117461456-117461456;C/T missense_variant False DSCAML1@p.A47T 1 0.210526316 ENSG00000177103 chr11:117797121-117797121;C/T missense_variant False DSCAM@p.L836V 1 0.242038217 ENSG00000171587 chr21:40189089-40189089;G/C missense_variant False DSCAML1@p.A109D 1 0.122807018 ENSG00000177103 chr11:117780711-117780711;G/T missense_variant False DSCAM@p.V776I 1 0.168674699 ENSG00000171587 chr21:40276127-40276127;C/T missense_variant False DSCAM@p.T1741K 1 0.952380952 ENSG00000171587 chr21:40044239-40044239;G/T missense_variant False DSCAM@p.S1857I 1 0.708333333 ENSG00000171587 chr21:40042487-40042487;C/A missense_variant False DSCAM@p.R965Q 1 0.151898734 ENSG00000171587 chr21:40178980-40178980;C/T missense_variant False DSCAM@p.R1996Q 1 0.918918919 ENSG00000171587 chr21:40013086-40013086;C/T missense_variant False DSC3@p.I619M 1 0.292682927 ENSG00000134762 chr18:31006938-31006938;G/C missense_variant False DSC3@p.H798Y 1 0.356435644 ENSG00000134762 chr18:30996892-30996892;G/A missense_variant False DSC2@p.D30H 1 0.28 ENSG00000134755 chr18:31093625-31093625;C/G missense_variant False DRGX@p.S251C 1 0.06557377 ENSG00000165606 chr10:49366156-49366156;G/C missense_variant False DROSHA@p.I387M 1 0.083333333 ENSG00000113360 chr5:31515117-31515117;G/C missense_variant False DROSHA@p.G1027E 1 0.376146789 ENSG00000113360 chr5:31431641-31431641;C/T missense_variant False DROSHA@p.E993K 1 0.304347826 ENSG00000113360 chr5:31435830-31435830;C/T missense_variant False DROSHA@p.E406Q 1 0.440677966 ENSG00000113360 chr5:31515062-31515062;C/G missense_variant False DRICH1@p.E55K 1 0.347058824 ENSG00000189269 chr22:23631861-23631861;C/T missense_variant False DRICH1@p.E200K 1 0.625 ENSG00000189269 chr22:23614158-23614158;C/T missense_variant False DRGX@p.A213Sfs*171 1 0.228187919 ENSG00000165606 chr10:49366270-49366271;GC/A frameshift_variant False DSC2@p.A596T 1 0.254545455 ENSG00000134755 chr18:31074785-31074785;C/T missense_variant False DRG2@p.E354K 1 0.269230769 ENSG00000108591 chr17:18107205-18107205;G/A missense_variant False DRG2@p.E255K 1 0.666666667 ENSG00000108591 chr17:18101954-18101954;G/A missense_variant False DRG2@p.E24K 1 0.290598291 ENSG00000108591 chr17:18093818-18093818;G/A missense_variant False DRG2@p.D222H 1 0.409090909 ENSG00000108591 chr17:18101525-18101525;G/C missense_variant False DRG1@p.R34C 1 0.411111111 ENSG00000198089 chr22:31400677-31400677;C/T missense_variant False DRG1@p.L289V 1 0.111111111 ENSG00000198089 chr22:31426766-31426766;C/G missense_variant False DROSHA@p.I719T 1 0.20855615 ENSG00000113360 chr5:31472148-31472148;A/G missense_variant False DROSHA@p.L703V 1 0.194915254 ENSG00000113360 chr5:31472197-31472197;G/C missense_variant False DROSHA@p.R305T 1 0.077777778 ENSG00000113360 chr5:31521156-31521156;C/G missense_variant False DRP2@p.H297Y 1 0.202290076 ENSG00000102385 chrX:101242385-101242385;C/T missense_variant False DRP2@p.P47L 1 0.847457627 ENSG00000102385 chrX:101235882-101235882;C/T missense_variant False DRP2@p.R340W 1 0.176706827 ENSG00000102385 chrX:101242946-101242946;C/T missense_variant False DRP2@p.R689Q 1 0.315789474 ENSG00000102385 chrX:101254513-101254513;G/A missense_variant False DRP2@p.W321R 1 0.231404959 ENSG00000102385 chrX:101242457-101242457;T/A missense_variant False DSC1@p.A141D 1 0.242424242 ENSG00000134765 chr18:31156092-31156092;G/T missense_variant False DSC1@p.E489Q 1 0.23 ENSG00000134765 chr18:31140097-31140097;C/G missense_variant False DSC1@p.I340M 1 0.422222222 ENSG00000134765 chr18:31143711-31143711;A/C missense_variant False DSC1@p.N521K 1 0.071428571 ENSG00000134765 chr18:31139848-31139848;A/C missense_variant False DSC1@p.P473L 1 0.461538462 ENSG00000134765 chr18:31140144-31140144;G/A missense_variant False DSC1@p.R101K 1 0.358974359 ENSG00000134765 chr18:31157420-31157420;C/T missense_variant False DSC1@p.R632H 1 0.5 ENSG00000134765 chr18:31134112-31134112;C/T missense_variant False DSC1@p.S465I 1 0.428571429 ENSG00000134765 chr18:31140168-31140168;C/A missense_variant False DSC1@p.S58A 1 0.308823529 ENSG00000134765 chr18:31157550-31157550;A/C missense_variant False DSCAML1@p.G1085D 1 0.733333333 ENSG00000177103 chr11:117465133-117465133;C/T missense_variant False DSCAML1@p.G725R 1 0.162790698 ENSG00000177103 chr11:117505523-117505523;C/G missense_variant False DSCAML1@p.K1935N 1 0.408510638 ENSG00000177103 chr11:117430783-117430783;C/A missense_variant False DSG3@p.S273L 1 0.545454545 ENSG00000134757 chr18:31461231-31461231;C/T missense_variant False DSG4@p.S817C 1 0.291139241 ENSG00000175065 chr18:31412922-31412922;C/G missense_variant False DSG4@p.S1025Y 1 0.217391304 ENSG00000175065 chr18:31413546-31413546;C/A missense_variant False DSG4@p.R94G 1 0.20754717 ENSG00000175065 chr18:31388430-31388430;C/G missense_variant False DSG4@p.R502K 1 0.06779661 ENSG00000175065 chr18:31403503-31403503;G/A missense_variant False DSG4@p.R45T 1 0.460526316 ENSG00000175065 chr18:31386737-31386737;G/C missense_variant False DSG4@p.I293V 1 0.133333333 ENSG00000175065 chr18:31392212-31392212;A/G missense_variant False DSG3@p.P95S 1 0.5 ENSG00000134757 chr18:31458511-31458511;C/T missense_variant False DSG2@p.L37M 1 0.183098592 ENSG00000046604 chr18:31519830-31519830;C/A missense_variant False DSG3@p.G617R 1 0.455696203 ENSG00000134757 chr18:31469301-31469301;G/C missense_variant False DSG3@p.F5I 1 0.35 ENSG00000134757 chr18:31447890-31447890;T/A missense_variant False DSG3@p.D243N 1 0.25 ENSG00000134757 chr18:31460875-31460875;G/A missense_variant False DSG3@p.A752V 1 0.571428571 ENSG00000134757 chr18:31474274-31474274;C/T missense_variant False DSG2@p.S398N 1 0.164948454 ENSG00000046604 chr18:31531165-31531165;G/A missense_variant False DSG2@p.R990T 1 0.256410256 ENSG00000046604 chr18:31546355-31546355;G/C missense_variant False DSG4@p.V568L 1 0.197183099 ENSG00000175065 chr18:31406142-31406142;G/T missense_variant False DSG4@p.Y911C 1 0.042857143 ENSG00000175065 chr18:31413204-31413204;A/G missense_variant False DSN1@p.Q264E 1 0.064102564 ENSG00000149636 chr20:36755765-36755765;G/C missense_variant False DSN1@p.S350F 1 0.327433628 ENSG00000149636 chr20:36752810-36752810;G/A missense_variant False DSP@p.D1940N 1 0.106382979 ENSG00000096696 chr6:7583080-7583080;G/A missense_variant False DSP@p.D2117H 1 0.205673759 ENSG00000096696 chr6:7583611-7583611;G/C missense_variant False DSP@p.D875H 1 0.291666667 ENSG00000096696 chr6:7575481-7575481;G/C missense_variant False DSP@p.E1427K 1 0.169014085 ENSG00000096696 chr6:7580469-7580469;G/A missense_variant False DSP@p.E1690K 1 0.348314607 ENSG00000096696 chr6:7581258-7581258;G/A missense_variant False DSP@p.E1956Q 1 0.103448276 ENSG00000096696 chr6:7583128-7583128;G/C missense_variant False DSP@p.E323Q 1 0.186046512 ENSG00000096696 chr6:7566404-7566404;G/C missense_variant False DSP@p.E962Q 1 0.044247788 ENSG00000096696 chr6:7577785-7577785;G/C missense_variant False DSP@p.G171R 1 0.103896104 ENSG00000096696 chr6:7559314-7559314;G/C missense_variant False DSP@p.I156M 1 0.137931034 ENSG00000096696 chr6:7559271-7559271;C/G missense_variant False DSP@p.I2093M 1 0.182481752 ENSG00000096696 chr6:7583541-7583541;C/G missense_variant False DSP@p.K1590N 1 0.267605634 ENSG00000096696 chr6:7580960-7580960;G/C missense_variant False DSP@p.K674N 1 0.205882353 ENSG00000096696 chr6:7571960-7571960;G/C missense_variant False DSG2@p.R135K 1 0.244897959 ENSG00000046604 chr18:31521124-31521124;G/A missense_variant False DSG2@p.L1085V 1 0.230769231 ENSG00000046604 chr18:31546639-31546639;C/G missense_variant False DSCAML1@p.R970Q 1 0.52173913 ENSG00000177103 chr11:117480499-117480499;C/T missense_variant False DSEL@p.D595H 1 0.225806452 ENSG00000171451 chr18:67512856-67512856;C/G missense_variant False DSEL@p.N1174T 1 0.163636364 ENSG00000171451 chr18:67511118-67511118;T/G missense_variant False DSEL@p.M634V 1 0.45 ENSG00000171451 chr18:67512739-67512739;T/C missense_variant False DSEL@p.L957P 1 0.471428571 ENSG00000171451 chr18:67511769-67511769;A/G missense_variant False DSEL@p.L1127F 1 0.095238095 ENSG00000171451 chr18:67511258-67511258;C/A missense_variant False DSEL@p.H1111Y 1 0.220779221 ENSG00000171451 chr18:67511308-67511308;G/A missense_variant False DSEL@p.E876K 1 0.542105263 ENSG00000171451 chr18:67512013-67512013;C/T missense_variant False DSE@p.W98S 1 0.225 ENSG00000111817 chr6:116399543-116399543;G/C missense_variant False DSG2@p.K215Q 1 0.338028169 ENSG00000046604 chr18:31522202-31522202;A/C missense_variant False DSE@p.W98C 1 0.225 ENSG00000111817 chr6:116399544-116399544;G/T missense_variant False DSE@p.N766H 1 0.363636364 ENSG00000111817 chr6:116436764-116436764;A/C missense_variant False DSE@p.L935F 1 0.548387097 ENSG00000111817 chr6:116437271-116437271;C/T missense_variant False DSE@p.K514N 1 0.515151515 ENSG00000111817 chr6:116436010-116436010;G/C missense_variant False DSCC1@p.K251N 1 0.393939394 ENSG00000136982 chr8:119842792-119842792;C/A missense_variant False DSCAML1@p.T1361K 1 0.519685039 ENSG00000177103 chr11:117439897-117439897;G/T missense_variant False DSEL@p.R202Q 1 0.114285714 ENSG00000171451 chr18:67514034-67514034;C/T missense_variant False DSEL@p.S1103L 1 0.375 ENSG00000171451 chr18:67511331-67511331;G/A missense_variant False DSEL@p.S1107F 1 0.109375 ENSG00000171451 chr18:67511319-67511319;G/A missense_variant False DSG1@p.D402N 1 0.2 ENSG00000134760 chr18:31336552-31336552;G/A missense_variant False DSG1@p.D436N 1 0.108910891 ENSG00000134760 chr18:31338355-31338355;G/A missense_variant False DSG1@p.E600Q 1 0.235294118 ENSG00000134760 chr18:31343560-31343560;G/C missense_variant False DSG1@p.E655Q 1 0.19047619 ENSG00000134760 chr18:31346061-31346061;G/C missense_variant False DSG1@p.G653R 1 0.308411215 ENSG00000134760 chr18:31346055-31346055;G/C missense_variant False DSG1@p.G89A 1 0.182795699 ENSG00000134760 chr18:31328238-31328238;G/C missense_variant False DSG1@p.H359N 1 0.166666667 ENSG00000134760 chr18:31336423-31336423;C/A missense_variant False DSG1@p.L567F 1 0.205882353 ENSG00000134760 chr18:31343463-31343463;G/C missense_variant False DSG1@p.M681I 1 0.480392157 ENSG00000134760 chr18:31346141-31346141;G/C missense_variant False DSG1@p.M933I 1 0.323529412 ENSG00000134760 chr18:31354995-31354995;G/A missense_variant False DSG1@p.T806I 1 0.745762712 ENSG00000134760 chr18:31354613-31354613;C/T missense_variant False DSG2@p.E121Q 1 0.257142857 ENSG00000046604 chr18:31520947-31520947;G/C missense_variant False DSG2@p.G679V 1 0.1 ENSG00000046604 chr18:31542554-31542554;G/T missense_variant False DSG2@p.I492M 1 0.070707071 ENSG00000046604 chr18:31536254-31536254;C/G missense_variant False DRG1@p.I244M 1 0.108695652 ENSG00000198089 chr22:31426633-31426633;C/G missense_variant False DRG1@p.I106M 1 0.264705882 ENSG00000198089 chr22:31403180-31403180;C/G missense_variant False DRD5@p.F438L 1 0.153846154 ENSG00000169676 chr4:9783343-9783343;C/G missense_variant False DPP7@p.L101V 1 0.538461538 ENSG00000176978 chr9:137114263-137114263;G/C missense_variant False DPP8@p.T631I 1 0.38 ENSG00000074603 chr15:65463888-65463888;G/A missense_variant False DPP8@p.T400I 1 0.619047619 ENSG00000074603 chr15:65480367-65480367;G/A missense_variant False DPP8@p.R710Q 1 0.396551724 ENSG00000074603 chr15:65456262-65456262;C/T missense_variant False DPP8@p.L689F 1 0.245614035 ENSG00000074603 chr15:65456324-65456324;C/G missense_variant False DPP8@p.F504L 1 0.315068493 ENSG00000074603 chr15:65474281-65474281;G/C missense_variant False DPP8@p.E260Q 1 0.164179104 ENSG00000074603 chr15:65490285-65490285;C/G missense_variant False DPP6@p.R775Q 1 0.366666667 ENSG00000130226 chr7:154889291-154889291;G/A missense_variant False DPP4@p.E237K 1 0.397435897 ENSG00000197635 chr2:162035229-162035229;C/T missense_variant False DPP6@p.E495D 1 0.235294118 ENSG00000130226 chr7:154803941-154803941;G/C missense_variant False DPP4@p.V262M 1 0.551724138 ENSG00000197635 chr2:162033644-162033644;C/T missense_variant False DPP4@p.M528K 1 0.581395349 ENSG00000197635 chr2:162014450-162014450;A/T missense_variant False DPP4@p.L223Ffs*7 1 0.481481481 ENSG00000197635 chr2:162035269-162035270;-/A frameshift_variant False DPP4@p.I134M 1 0.48 ENSG00000197635 chr2:162039149-162039149;A/C missense_variant False DPP4@p.I102M 1 0.388235294 ENSG00000197635 chr2:162045592-162045592;G/C missense_variant False DPP8@p.W227C 1 0.485714286 ENSG00000074603 chr15:65497946-65497946;C/G missense_variant False DPP8@p.W784C 1 0.108108108 ENSG00000074603 chr15:65452070-65452070;C/G missense_variant False DPP9@p.D164N 1 0.292134831 ENSG00000142002 chr19:4704154-4704154;C/T missense_variant False DPP9@p.D325H 1 0.212121212 ENSG00000142002 chr19:4700230-4700230;C/G missense_variant False DPP9@p.L317F 1 0.619047619 ENSG00000142002 chr19:4700252-4700252;C/A missense_variant False DPP9@p.R825L 1 0.35 ENSG00000142002 chr19:4679860-4679860;C/A missense_variant False DPPA2@p.E53K 1 0.162303665 ENSG00000163530 chr3:109312569-109312569;C/T missense_variant False DPPA2@p.S147A 1 0.097744361 ENSG00000163530 chr3:109308251-109308251;A/C missense_variant False DPPA3@p.R113K 1 0.214285714 ENSG00000187569 chr12:7716208-7716208;G/A missense_variant False DPPA3@p.V137E 1 0.244444444 ENSG00000187569 chr12:7717007-7717007;T/A missense_variant False DPPA4@p.P277Q 1 0.171428571 ENSG00000121570 chr3:109328938-109328938;G/T missense_variant False DPPA4@p.S5Y 1 0.120481928 ENSG00000121570 chr3:109337504-109337504;G/T missense_variant False DPRX@p.P111L 1 0.639344262 ENSG00000204595 chr19:53636744-53636744;C/T missense_variant False DPY19L1@p.F378L 1 0.380952381 ENSG00000173852 chr7:34949866-34949866;G/T missense_variant False DPY19L1@p.G153E 1 0.128571429 ENSG00000173852 chr7:35010555-35010555;C/T missense_variant False DPY19L1@p.R139T 1 0.121621622 ENSG00000173852 chr7:35011365-35011365;C/G missense_variant False DPY19L2@p.E480K 1 0.125 ENSG00000177990 chr12:63597832-63597832;C/T missense_variant False DPP4@p.F647S 1 0.468468468 ENSG00000197635 chr2:162008609-162008609;A/G missense_variant False DPP4@p.E191K 1 0.18404908 ENSG00000197635 chr2:162038344-162038344;C/T missense_variant False DPY19L2@p.L110V 1 0.315217391 ENSG00000177990 chr12:63668066-63668066;G/C missense_variant False DPH2@p.E213Q 1 0.125 ENSG00000132768 chr1:43971539-43971539;G/C missense_variant False DPH7@p.K314N 1 0.153846154 ENSG00000148399 chr9:137564441-137564441;C/G missense_variant False DPH3@p.E7K 1 0.084337349 ENSG00000154813 chr3:16264858-16264858;C/T missense_variant False DPH2@p.S249F 1 0.208333333 ENSG00000132768 chr1:43971648-43971648;C/T missense_variant False DPH2@p.R15Q 1 0.19047619 ENSG00000132768 chr1:43970219-43970219;G/A missense_variant False DPH2@p.Q258E 1 0.136363636 ENSG00000132768 chr1:43971674-43971674;C/G missense_variant False DPH2@p.L167V 1 0.574324324 ENSG00000132768 chr1:43971401-43971401;C/G missense_variant False DPH2@p.E213K 1 0.24137931 ENSG00000132768 chr1:43971539-43971539;G/A missense_variant False DPP3@p.S297F 1 0.215189873 ENSG00000254986 chr11:66491585-66491585;C/T missense_variant False DPH1@p.S419W 1 0.34375 ENSG00000108963 chr17:2041796-2041796;C/G missense_variant False DPH1@p.S306F 1 0.847222222 ENSG00000108963 chr17:2040515-2040515;C/T missense_variant False DPF2@p.T125P 1 0.755555556 ENSG00000133884 chr11:65341470-65341470;A/C missense_variant False DPF2@p.S391C 1 0.378378378 ENSG00000133884 chr11:65351755-65351755;C/G missense_variant False DPF2@p.M354I 1 0.603174603 ENSG00000133884 chr11:65348894-65348894;G/A missense_variant False DPF2@p.G215V 1 0.303370787 ENSG00000133884 chr11:65345672-65345672;G/T missense_variant False DPM1@p.E38Q 1 0.380952381 ENSG00000000419 chr20:50958412-50958412;C/G missense_variant False DPM1@p.E53Q 1 0.218181818 ENSG00000000419 chr20:50958367-50958367;C/G missense_variant False DPM1@p.E59K 1 0.447368421 ENSG00000000419 chr20:50955272-50955272;C/T missense_variant False DPP10@p.D592N 1 0.230769231 ENSG00000175497 chr2:115814866-115814866;G/A missense_variant False DPP10@p.E784Q 1 0.363636364 ENSG00000175497 chr2:115842304-115842304;G/C missense_variant False DPP10@p.F125L 1 0.285714286 ENSG00000175497 chr2:115525906-115525906;C/A missense_variant False DPP10@p.H741Q 1 0.268292683 ENSG00000175497 chr2:115840790-115840790;C/A missense_variant False DPP10@p.I719M 1 0.410714286 ENSG00000175497 chr2:115836721-115836721;A/G missense_variant False DPP10@p.K331N 1 0.366666667 ENSG00000175497 chr2:115753216-115753216;G/C missense_variant False DPP10@p.L40Q 1 0.493150685 ENSG00000175497 chr2:115309297-115309297;T/A missense_variant False DPP10@p.S313I 1 0.5 ENSG00000175497 chr2:115746171-115746171;G/T missense_variant False DPP3@p.D472N 1 0.407643312 ENSG00000254986 chr11:66495230-66495230;G/A missense_variant False DPP3@p.E283K 1 0.395348837 ENSG00000254986 chr11:66491542-66491542;G/A missense_variant False DPP3@p.E653K 1 0.288461538 ENSG00000254986 chr11:66504690-66504690;G/A missense_variant False DPP3@p.L687V 1 0.125 ENSG00000254986 chr11:66509096-66509096;C/G missense_variant False DPP3@p.P387R 1 0.297297297 ENSG00000254986 chr11:66492887-66492887;C/G missense_variant False DPP3@p.P675A 1 0.079365079 ENSG00000254986 chr11:66504756-66504756;C/G missense_variant False DPY19L2@p.F157L 1 0.363636364 ENSG00000177990 chr12:63661461-63661461;G/C missense_variant False DPY19L2@p.L560F 1 0.159090909 ENSG00000177990 chr12:63582451-63582451;C/G missense_variant False DRD5@p.D281N 1 0.363636364 ENSG00000169676 chr4:9782870-9782870;G/A missense_variant False DPYSL5@p.D127N 1 0.222222222 ENSG00000157851 chr2:26925004-26925004;G/A missense_variant False DRAXIN@p.T327A 1 0.473684211 ENSG00000162490 chr1:11719625-11719625;A/G missense_variant False DRAXIN@p.K250N 1 0.227272727 ENSG00000162490 chr1:11711958-11711958;G/C missense_variant False DRAM2@p.L171H 1 0.413793103 ENSG00000156171 chr1:111120521-111120521;A/T missense_variant False DRAM2@p.E257K 1 0.361904762 ENSG00000156171 chr1:111118192-111118192;C/T missense_variant False DR1@p.H48Y 1 0.493506494 ENSG00000117505 chr1:93346787-93346787;C/T missense_variant False DQX1@p.E565K 1 0.303797468 ENSG00000144045 chr2:74519669-74519669;C/T missense_variant False DPYSL4@p.K390N 1 0.134078212 ENSG00000151640 chr10:132202005-132202005;A/C missense_variant False DPYS@p.R118Q 1 0.125 ENSG00000147647 chr8:104451316-104451316;C/T missense_variant False DPYSL4@p.D286H 1 0.212121212 ENSG00000151640 chr10:132200400-132200400;G/C missense_variant False DPYSL3@p.I365M 1 0.333333333 ENSG00000113657 chr5:147400707-147400707;G/C missense_variant False DPYSL3@p.E125Q 1 0.117346939 ENSG00000113657 chr5:147415814-147415814;C/G missense_variant False DPYSL2@p.R467C 1 0.301369863 ENSG00000092964 chr8:26652374-26652374;C/T missense_variant False DPYSL2@p.R397W 1 0.232323232 ENSG00000092964 chr8:26647708-26647708;C/T missense_variant False DPYSL2@p.G287S 1 0.327272727 ENSG00000092964 chr8:26643486-26643486;G/A missense_variant False DRC1@p.I287M 1 0.15 ENSG00000157856 chr2:26431979-26431979;C/G missense_variant False DRC1@p.K171N 1 0.46969697 ENSG00000157856 chr2:26424427-26424427;G/T missense_variant False DRC1@p.L369V 1 0.152173913 ENSG00000157856 chr2:26444298-26444298;C/G missense_variant False DRC1@p.S576T 1 0.161290323 ENSG00000157856 chr2:26453357-26453357;G/C missense_variant False DRC3@p.E100K 1 0.175438596 ENSG00000171962 chr17:17987952-17987952;G/A missense_variant False DRC7@p.D501N 1 0.294117647 ENSG00000159625 chr16:57723094-57723094;G/A missense_variant False DRC7@p.E24K 1 0.112903226 ENSG00000159625 chr16:57698019-57698019;G/A missense_variant False DRC7@p.I338M 1 0.285714286 ENSG00000159625 chr16:57707615-57707615;C/G missense_variant False DRC7@p.M31I 1 0.416666667 ENSG00000159625 chr16:57698042-57698042;G/A missense_variant False DRC7@p.Q553E 1 0.113207547 ENSG00000159625 chr16:57724734-57724734;C/G missense_variant False DRD1@p.E399K 1 0.411764706 ENSG00000184845 chr5:175441905-175441905;C/T missense_variant False DRD1@p.R23C 1 0.450381679 ENSG00000184845 chr5:175443033-175443033;G/A missense_variant False DRD2@p.D12E 1 0.511904762 ENSG00000149295 chr11:113424616-113424616;A/C missense_variant False DRD2@p.K356R 1 0.1 ENSG00000149295 chr11:113412627-113412627;T/C missense_variant False DRD2@p.R217H 1 0.441176471 ENSG00000149295 chr11:113415494-113415494;C/T missense_variant False DRD2@p.R31T 1 0.192307692 ENSG00000149295 chr11:113424560-113424560;C/G missense_variant False DRD3@p.K396N 1 0.345070423 ENSG00000151577 chr3:114128731-114128731;C/G missense_variant False DPYS@p.R262S 1 0.216216216 ENSG00000147647 chr8:104444255-104444255;C/A missense_variant False DPYS@p.P123H 1 0.238095238 ENSG00000147647 chr8:104451301-104451301;G/T missense_variant False DPY19L2@p.Q429E 1 0.325581395 ENSG00000177990 chr12:63600380-63600380;G/C missense_variant False DPY19L3@p.Q262E 1 0.469026549 ENSG00000178904 chr19:32439839-32439839;C/G missense_variant False DPY19L4@p.R548T 1 0.225 ENSG00000156162 chr8:94781094-94781094;G/C missense_variant False DPY19L4@p.Q287L 1 0.488372093 ENSG00000156162 chr8:94761824-94761824;A/T missense_variant False DPY19L4@p.G501V 1 0.154121864 ENSG00000156162 chr8:94777713-94777713;G/T missense_variant False DPY19L4@p.E484Q 1 0.185185185 ENSG00000156162 chr8:94770567-94770567;G/C missense_variant False DPY19L3@p.R700T 1 0.359195402 ENSG00000178904 chr19:32482188-32482188;G/C missense_variant False DPY19L3@p.R11T 1 0.230769231 ENSG00000178904 chr19:32408285-32408285;G/C missense_variant False DPY19L3@p.I44V 1 0.057142857 ENSG00000178904 chr19:32411265-32411265;A/G missense_variant False DPYS@p.L388F 1 0.302631579 ENSG00000147647 chr8:104424320-104424320;G/A missense_variant False DPY19L3@p.E503Q 1 0.299270073 ENSG00000178904 chr19:32463930-32463930;G/C missense_variant False DPY19L3@p.D633H 1 0.516129032 ENSG00000178904 chr19:32480465-32480465;G/C missense_variant False DPY19L2@p.S681F 1 0.117647059 ENSG00000177990 chr12:63569308-63569308;G/A missense_variant False DPY19L2@p.S105C 1 0.480392157 ENSG00000177990 chr12:63668080-63668080;G/C missense_variant False DPY19L2@p.R707T 1 0.220512821 ENSG00000177990 chr12:63569230-63569230;C/G missense_variant False DPY19L2@p.R514C 1 0.448275862 ENSG00000177990 chr12:63594127-63594127;G/A missense_variant False DPY30@p.S86C 1 0.2 ENSG00000162961 chr2:32024227-32024227;G/C missense_variant False DPYD@p.D134V 1 0.168831169 ENSG00000188641 chr1:97721592-97721592;T/A missense_variant False DPYD@p.E611K 1 0.19047619 ENSG00000188641 chr1:97450133-97450133;C/T missense_variant False DPYD@p.E828K 1 0.173913043 ENSG00000188641 chr1:97193209-97193209;C/T missense_variant False DPYD@p.F294L 1 0.231884058 ENSG00000188641 chr1:97595135-97595135;G/T missense_variant False DPYD@p.G123C 1 0.386138614 ENSG00000188641 chr1:97721626-97721626;C/A missense_variant False DPYD@p.K307E 1 0.114754098 ENSG00000188641 chr1:97595098-97595098;T/C missense_variant False DPYD@p.K34N 1 0.377777778 ENSG00000188641 chr1:97883312-97883312;C/A missense_variant False DPYD@p.L388V 1 0.205128205 ENSG00000188641 chr1:97573937-97573937;G/C missense_variant False DPYD@p.L521Q 1 0.128205128 ENSG00000188641 chr1:97515904-97515904;A/T missense_variant False DPYD@p.P588L 1 0.081967213 ENSG00000188641 chr1:97450201-97450201;G/A missense_variant False DPYS@p.A383V 1 0.104166667 ENSG00000147647 chr8:104424334-104424334;G/A missense_variant False DPYS@p.D197N 1 0.260869565 ENSG00000147647 chr8:104447338-104447338;C/T missense_variant False DPYS@p.D402N 1 0.1484375 ENSG00000147647 chr8:104424278-104424278;C/T missense_variant False DPYS@p.F425V 1 0.133333333 ENSG00000147647 chr8:104392954-104392954;A/C missense_variant False DPYS@p.I273T 1 0.208 ENSG00000147647 chr8:104429677-104429677;A/G missense_variant False DPYS@p.I385S 1 0.425 ENSG00000147647 chr8:104424328-104424328;A/C missense_variant False DSP@p.L1235V 1 0.113207547 ENSG00000096696 chr6:7579893-7579893;C/G missense_variant False DSP@p.P2823Q 1 0.152046784 ENSG00000096696 chr6:7585730-7585730;C/A missense_variant False DPF2@p.D279Y 1 0.282608696 ENSG00000133884 chr11:65345989-65345989;G/T missense_variant False DUSP9@p.F369L 1 0.37037037 ENSG00000130829 chrX:153650257-153650257;C/G missense_variant False DVL1@p.P104L 1 0.444444444 ENSG00000107404 chr1:1342414-1342414;G/A missense_variant False DVL1@p.D414N 1 0.536585366 ENSG00000107404 chr1:1338621-1338621;C/T missense_variant False DUXA@p.Q36E 1 0.275362319 ENSG00000258873 chr19:57160717-57160717;G/C missense_variant False DUXA@p.E137K 1 0.405063291 ENSG00000258873 chr19:57158357-57158357;C/T missense_variant False DUT@p.R27P 1 0.222222222 ENSG00000128951 chr15:48331595-48331595;G/C missense_variant False DUT@p.D238N 1 0.109756098 ENSG00000128951 chr15:48342031-48342031;G/A missense_variant False DUSP8@p.V36M 1 0.130434783 ENSG00000184545 chr11:1565721-1565721;C/T missense_variant False DVL2@p.E13D 1 0.28125 ENSG00000004975 chr17:7234224-7234224;C/A missense_variant False DUSP8@p.I250M 1 0.305555556 ENSG00000184545 chr11:1557865-1557865;G/C missense_variant False DUSP8@p.G26R 1 0.410714286 ENSG00000184545 chr11:1565751-1565751;C/T missense_variant False DUSP8@p.A248G 1 0.295454545 ENSG00000184545 chr11:1557872-1557872;G/C missense_variant False DUSP7@p.R78L 1 0.260869565 ENSG00000164086 chr3:52056134-52056134;C/A missense_variant False DUSP7@p.K55N 1 0.3 ENSG00000164086 chr3:52056202-52056202;C/A missense_variant False DUSP7@p.E181Vfs*3 1 0.307692308 ENSG00000164086 chr3:52054349-52054350;CT/- frameshift_variant False DVL1@p.S179F 1 0.263157895 ENSG00000107404 chr1:1341736-1341736;G/A missense_variant False DVL2@p.E24Q 1 0.263636364 ENSG00000004975 chr17:7234193-7234193;C/G missense_variant False DSP@p.Q1432P 1 0.244186047 ENSG00000096696 chr6:7580485-7580485;A/C missense_variant False DXO@p.A127D 1 0.428571429 ENSG00000204348 chr6:31971124-31971124;G/T missense_variant False DXO@p.L54P 1 0.5 ENSG00000204348 chr6:31971515-31971515;A/G missense_variant False DXO@p.H351Y 1 0.47826087 ENSG00000204348 chr6:31970017-31970017;G/A missense_variant False DXO@p.E97K 1 0.359550562 ENSG00000204348 chr6:31971387-31971387;C/T missense_variant False DXO@p.E253K 1 0.25 ENSG00000204348 chr6:31970661-31970661;C/T missense_variant False DXO@p.E17K 1 0.268292683 ENSG00000204348 chr6:31971627-31971627;C/T missense_variant False DXO@p.D368Y 1 0.136363636 ENSG00000204348 chr6:31969966-31969966;C/A missense_variant False DVL3@p.E304D 1 0.209090909 ENSG00000161202 chr3:184166454-184166454;G/T missense_variant False DVL2@p.E326Q 1 0.212765957 ENSG00000004975 chr17:7229027-7229027;C/G missense_variant False DVL3@p.D273Y 1 0.105263158 ENSG00000161202 chr3:184166179-184166179;G/T missense_variant False DVL2@p.S397F 1 0.063829787 ENSG00000004975 chr17:7227696-7227696;G/A missense_variant False DVL2@p.R632W 1 0.145454545 ENSG00000004975 chr17:7226182-7226182;G/A missense_variant False DVL2@p.P699L 1 0.367346939 ENSG00000004975 chr17:7225980-7225980;G/A missense_variant False DVL2@p.M300I 1 0.235294118 ENSG00000004975 chr17:7229192-7229192;C/T missense_variant False DVL2@p.I294M 1 0.260869565 ENSG00000004975 chr17:7229210-7229210;G/C missense_variant False DUSP6@p.S300L 1 0.262068966 ENSG00000139318 chr12:89349501-89349501;G/A missense_variant False DUSP6@p.S154W 1 0.5 ENSG00000139318 chr12:89350965-89350965;G/C missense_variant False DUSP6@p.N201Qfs*48 1 0.118055556 ENSG00000139318 chr12:89350825-89350826;-/G frameshift_variant False DUSP15@p.A122T 1 0.37037037 ENSG00000149599 chr20:31862633-31862633;C/T missense_variant False DUSP16@p.S347L 1 0.382716049 ENSG00000111266 chr12:12477791-12477791;G/A missense_variant False DUSP16@p.P502A 1 0.385416667 ENSG00000111266 chr12:12477327-12477327;G/C missense_variant False DUSP16@p.H205Y 1 0.567307692 ENSG00000111266 chr12:12487106-12487106;G/A missense_variant False DUSP16@p.E4K 1 0.387096774 ENSG00000111266 chr12:12521089-12521089;C/T missense_variant False DUSP16@p.E295K 1 0.085714286 ENSG00000111266 chr12:12477948-12477948;C/T missense_variant False DUSP16@p.E13K 1 0.189189189 ENSG00000111266 chr12:12521062-12521062;C/T missense_variant False DUSP14@p.E72Q 1 0.255319149 ENSG00000276023 chr17:37512486-37512486;G/C missense_variant False DUSP6@p.L290F 1 0.290697674 ENSG00000139318 chr12:89349530-89349530;C/G missense_variant False DUSP13@p.T52M 1 0.369230769 ENSG00000293543 chr10:75108204-75108204;G/A missense_variant False DUSP12@p.M327I 1 0.173469388 ENSG00000081721 chr1:161756905-161756905;G/T missense_variant False DUSP11@p.S342P 1 0.3375 ENSG00000144048 chr2:73762771-73762771;A/G missense_variant False DUSP11@p.Q290H 1 0.089655172 ENSG00000144048 chr2:73766483-73766483;C/G missense_variant False DUSP11@p.D216N 1 0.100840336 ENSG00000144048 chr2:73767197-73767197;C/T missense_variant False DUSP10@p.M424I 1 0.613496933 ENSG00000143507 chr1:221702589-221702589;C/T missense_variant False DUSP18@p.D73N 1 0.216666667 ENSG00000167065 chr22:30663787-30663787;C/T missense_variant False DUSP1@p.E215K 1 0.193548387 ENSG00000120129 chr5:172769665-172769665;C/T missense_variant False DUSP1@p.E239K 1 0.12037037 ENSG00000120129 chr5:172769593-172769593;C/T missense_variant False DUSP1@p.K221N 1 0.152284264 ENSG00000120129 chr5:172769645-172769645;C/G missense_variant False DUSP1@p.S163F 1 0.407407407 ENSG00000120129 chr5:172770186-172770186;G/A missense_variant False DUSP1@p.S163Y 1 0.117647059 ENSG00000120129 chr5:172770186-172770186;G/T missense_variant False DUSP21@p.E181V 1 0.288888889 ENSG00000189037 chrX:44844674-44844674;A/T missense_variant False DUSP22@p.S95N 1 0.044642857 ENSG00000112679 chr6:348123-348123;G/A missense_variant False DUSP26@p.D125N 1 0.245283019 ENSG00000133878 chr8:33593596-33593596;C/T missense_variant False DUSP28@p.K104N 1 0.222222222 ENSG00000188542 chr2:240560996-240560996;G/C missense_variant False DUSP29@p.D120H 1 0.144230769 ENSG00000188716 chr10:75043860-75043860;C/G missense_variant False DUSP29@p.F119L 1 0.19 ENSG00000188716 chr10:75043861-75043861;G/C missense_variant False DUSP29@p.R187Q 1 0.253731343 ENSG00000188716 chr10:75037939-75037939;C/T missense_variant False DUSP2@p.P166L 1 0.7 ENSG00000158050 chr2:96144774-96144774;G/A missense_variant False DUSP2@p.R290C 1 0.530612245 ENSG00000158050 chr2:96143900-96143900;G/A missense_variant False DUSP4@p.S159C 1 0.6875 ENSG00000120875 chr8:29340201-29340201;G/C missense_variant False DUSP6@p.E148Q 1 0.583333333 ENSG00000139318 chr12:89350984-89350984;C/G missense_variant False DYDC2@p.H167Y 1 0.056910569 ENSG00000133665 chr10:80366916-80366916;C/T missense_variant False DYM@p.E530Q 1 0.10989011 ENSG00000141627 chr18:49118902-49118902;C/G missense_variant False DYM@p.L339V 1 0.305882353 ENSG00000141627 chr18:49282107-49282107;G/C missense_variant False DYNC2H1@p.D88V 1 0.40625 ENSG00000187240 chr11:103113604-103113604;A/T missense_variant False DYNC2H1@p.K3296R 1 0.315789474 ENSG00000187240 chr11:103243760-103243760;A/G missense_variant False DYNC2H1@p.I60M 1 0.574074074 ENSG00000187240 chr11:103109754-103109754;C/G missense_variant False DYNC2H1@p.I2193M 1 0.282352941 ENSG00000187240 chr11:103184997-103184997;A/G missense_variant False DYNC2H1@p.H242N 1 0.102272727 ENSG00000187240 chr11:103116672-103116672;C/A missense_variant False DYNC2H1@p.H1819D 1 0.388888889 ENSG00000187240 chr11:103173202-103173202;C/G missense_variant False DYNC2H1@p.E4135Q 1 0.481481481 ENSG00000187240 chr11:103435979-103435979;G/C missense_variant False DYNC2H1@p.D2072Y 1 0.203389831 ENSG00000187240 chr11:103179100-103179100;G/T missense_variant False DYNC1I2@p.G489A 1 0.292307692 ENSG00000077380 chr2:171729783-171729783;G/C missense_variant False DYNC1LI2@p.Q461R 1 0.326086957 ENSG00000135720 chr16:66723819-66723819;T/C missense_variant False DYNC1LI1@p.T515A 1 0.380165289 ENSG00000144635 chr3:32526828-32526828;T/C missense_variant False DYNC1LI1@p.R272G 1 0.328947368 ENSG00000144635 chr3:32537029-32537029;G/C missense_variant False DYNC1LI1@p.E171K 1 0.164948454 ENSG00000144635 chr3:32544933-32544933;C/T missense_variant False DYNC1LI1@p.D112H 1 0.071428571 ENSG00000144635 chr3:32545852-32545852;C/G missense_variant False DYNC1I2@p.S590F 1 0.4 ENSG00000077380 chr2:171745893-171745893;C/T missense_variant False DYNC2H1@p.K3838N 1 0.15625 ENSG00000187240 chr11:103311898-103311898;G/C missense_variant False DYNC2H1@p.N2905T 1 0.12 ENSG00000187240 chr11:103215740-103215740;A/C missense_variant False DYNC2H1@p.P4064A 1 0.642857143 ENSG00000187240 chr11:103399696-103399696;C/G missense_variant False DYNC2H1@p.Q2754E 1 0.289473684 ENSG00000187240 chr11:103203725-103203725;C/G missense_variant False DYNC2H1@p.S3215C 1 0.163265306 ENSG00000187240 chr11:103235748-103235748;C/G missense_variant False DYNC2H1@p.W3589L 1 0.14953271 ENSG00000187240 chr11:103282183-103282183;G/T missense_variant False DYNC2I1@p.D392N 1 0.194029851 ENSG00000126870 chr7:158902412-158902412;G/A missense_variant False DYNC2I1@p.E46K 1 0.285714286 ENSG00000126870 chr7:158871208-158871208;G/A missense_variant False DYNC2I1@p.E54K 1 0.428571429 ENSG00000126870 chr7:158871232-158871232;G/A missense_variant False DYNC2I1@p.Q789E 1 0.130434783 ENSG00000126870 chr7:158926294-158926294;C/G missense_variant False DYNC2I1@p.S249F 1 0.52173913 ENSG00000126870 chr7:158879856-158879856;C/T missense_variant False DYNC2I2@p.D502N 1 0.232142857 ENSG00000119333 chr9:128633851-128633851;C/T missense_variant False DYNC2LI1@p.H211Q 1 0.209876543 ENSG00000138036 chr2:43796774-43796774;T/G missense_variant False DYNC2LI1@p.V114F 1 0.525 ENSG00000138036 chr2:43794476-43794476;G/T missense_variant False DYNLL1@p.R60S 1 0.236842105 ENSG00000088986 chr12:120498120-120498120;G/C missense_variant False DYNLT3@p.E16K 1 0.222222222 ENSG00000165169 chrX:37846343-37846343;C/T missense_variant False DYRK1A@p.E160K 1 0.486111111 ENSG00000157540 chr21:37480788-37480788;G/A missense_variant False DYNC1I2@p.S238C 1 0.789473684 ENSG00000077380 chr2:171726024-171726024;C/G missense_variant False DYNC1I2@p.E568D 1 0.732673267 ENSG00000077380 chr2:171745828-171745828;G/T missense_variant False DYM@p.L74I 1 0.115789474 ENSG00000141627 chr18:49379732-49379732;G/T missense_variant False DYNC1H1@p.E1316K 1 0.542857143 ENSG00000197102 chr14:102000130-102000130;G/A missense_variant False DYNC1H1@p.E4599D 1 0.068181818 ENSG00000197102 chr14:102050183-102050183;G/C missense_variant False DYNC1H1@p.E4022K 1 0.155339806 ENSG00000197102 chr14:102041696-102041696;G/A missense_variant False DYNC1H1@p.E3793K 1 0.160493827 ENSG00000197102 chr14:102039171-102039171;G/A missense_variant False DYNC1H1@p.E3022Q 1 0.278688525 ENSG00000197102 chr14:102027634-102027634;G/C missense_variant False DYNC1H1@p.E2828K 1 0.105263158 ENSG00000197102 chr14:102020031-102020031;G/A missense_variant False DYNC1H1@p.E1402K 1 0.129584352 ENSG00000197102 chr14:102001163-102001163;G/A missense_variant False DYNC1H1@p.E1014K 1 0.358108108 ENSG00000197102 chr14:101994208-101994208;G/A missense_variant False DYNC1I1@p.V452I 1 0.290322581 ENSG00000158560 chr7:96035691-96035691;G/A missense_variant False DYNC1H1@p.D4289N 1 0.275 ENSG00000197102 chr14:102044454-102044454;G/A missense_variant False DYNC1H1@p.D4261H 1 0.065217391 ENSG00000197102 chr14:102044370-102044370;G/C missense_variant False DYNC1H1@p.D4257H 1 0.342857143 ENSG00000197102 chr14:102044358-102044358;G/C missense_variant False DYNC1H1@p.D3862H 1 0.5625 ENSG00000197102 chr14:102039535-102039535;G/C missense_variant False DYNC1H1@p.D2636N 1 0.203539823 ENSG00000197102 chr14:102017145-102017145;G/A missense_variant False DYM@p.P12S 1 0.115384615 ENSG00000141627 chr18:49430361-49430361;G/A missense_variant False DYNC1H1@p.G2293R 1 0.150684932 ENSG00000197102 chr14:102012333-102012333;G/C missense_variant False DYNC1H1@p.I2759F 1 0.392156863 ENSG00000197102 chr14:102018548-102018548;A/T missense_variant False DYNC1H1@p.K3225N 1 0.376344086 ENSG00000197102 chr14:102029851-102029851;G/C missense_variant False DYNC1H1@p.L3328M 1 0.61 ENSG00000197102 chr14:102032370-102032370;C/A missense_variant False DYNC1H1@p.L4331F 1 0.4 ENSG00000197102 chr14:102044683-102044683;C/T missense_variant False DYNC1H1@p.M2018I 1 0.395604396 ENSG00000197102 chr14:102009919-102009919;G/C missense_variant False DYNC1H1@p.M3256I 1 0.551020408 ENSG00000197102 chr14:102030167-102030167;G/A missense_variant False DYNC1H1@p.P145R 1 0.34751773 ENSG00000197102 chr14:101979408-101979408;C/G missense_variant False DYNC1H1@p.P2859L 1 0.073684211 ENSG00000197102 chr14:102022819-102022819;C/T missense_variant False DYNC1H1@p.R1294T 1 0.284210526 ENSG00000197102 chr14:102000065-102000065;G/C missense_variant False DYNC1H1@p.R2869Q 1 0.4 ENSG00000197102 chr14:102022849-102022849;G/A missense_variant False DYNC1H1@p.R3611Q 1 0.113924051 ENSG00000197102 chr14:102036566-102036566;G/A missense_variant False DYNC1H1@p.S1780Y 1 0.2 ENSG00000197102 chr14:102005142-102005142;C/A missense_variant False DYNC1H1@p.S3674L 1 0.3125 ENSG00000197102 chr14:102038572-102038572;C/T missense_variant False DYNC1H1@p.W2700C 1 0.154929577 ENSG00000197102 chr14:102017427-102017427;G/C missense_variant False DYNC1I1@p.S131L 1 0.261589404 ENSG00000158560 chr7:95828083-95828083;C/T missense_variant False DYNC1I1@p.S417F 1 0.366666667 ENSG00000158560 chr7:96032749-96032749;C/T missense_variant False DUSP10@p.L23V 1 0.101449275 ENSG00000143507 chr1:221739678-221739678;G/C missense_variant False DUSP10@p.G401R 1 0.25 ENSG00000143507 chr1:221702660-221702660;C/G missense_variant False DUS4L-BCAP29@p.R454T 1 0.2 ENSG00000288558 chr7:107613383-107613383;G/C missense_variant False DST@p.L3233R 1 0.175 ENSG00000151914 chr6:56604297-56604297;A/C missense_variant False DST@p.P587T 1 0.159090909 ENSG00000151914 chr6:56640241-56640241;G/T missense_variant False DST@p.P2076A 1 0.390625 ENSG00000151914 chr6:56607769-56607769;G/C missense_variant False DST@p.M6608T 1 0.426829268 ENSG00000151914 chr6:56489584-56489584;A/G missense_variant False DST@p.L7344H 1 0.446808511 ENSG00000151914 chr6:56460223-56460223;A/T missense_variant False DST@p.L4806M 1 0.333333333 ENSG00000151914 chr6:56555432-56555432;G/T missense_variant False DST@p.L3925I 1 0.483516484 ENSG00000151914 chr6:56593983-56593983;A/T missense_variant False DST@p.L3027F 1 0.283018868 ENSG00000151914 chr6:56604916-56604916;G/A missense_variant False DST@p.E5424Q 1 0.231034483 ENSG00000151914 chr6:56535160-56535160;C/G missense_variant False DST@p.L1012V 1 0.296296296 ENSG00000151914 chr6:56632992-56632992;G/C missense_variant False DST@p.K6866N 1 0.258333333 ENSG00000151914 chr6:56477462-56477462;C/G missense_variant False DST@p.K5997T 1 0.337662338 ENSG00000151914 chr6:56509704-56509704;T/G missense_variant False DST@p.K4865N 1 0.254032258 ENSG00000151914 chr6:56553564-56553564;C/G missense_variant False DST@p.I3317V 1 0.541666667 ENSG00000151914 chr6:56604046-56604046;T/C missense_variant False DST@p.G2962E 1 0.315789474 ENSG00000151914 chr6:56605110-56605110;C/T missense_variant False DST@p.P6078A 1 0.138297872 ENSG00000151914 chr6:56508576-56508576;G/C missense_variant False DST@p.Q1007H 1 0.409638554 ENSG00000151914 chr6:56633005-56633005;T/A missense_variant False DST@p.Q4083K 1 0.142857143 ENSG00000151914 chr6:56592205-56592205;G/T missense_variant False DST@p.Q4664H 1 0.507462687 ENSG00000151914 chr6:56557334-56557334;T/G missense_variant False DST@p.Q6504E 1 0.363636364 ENSG00000151914 chr6:56493014-56493014;G/C missense_variant False DST@p.Q7412L 1 0.255319149 ENSG00000151914 chr6:56459156-56459156;T/A missense_variant False DST@p.S1140F 1 0.142857143 ENSG00000151914 chr6:56631301-56631301;G/A missense_variant False DST@p.S130C 1 0.298507463 ENSG00000151914 chr6:56900449-56900449;G/C missense_variant False DST@p.S1866C 1 0.289473684 ENSG00000151914 chr6:56608398-56608398;G/C missense_variant False DST@p.S3530L 1 0.217391304 ENSG00000151914 chr6:56602967-56602967;G/A missense_variant False DST@p.T2531I 1 0.5875 ENSG00000151914 chr6:56606403-56606403;G/A missense_variant False DST@p.V2505L 1 0.125 ENSG00000151914 chr6:56606482-56606482;C/G missense_variant False DSTN@p.R13H 1 0.5 ENSG00000125868 chr20:17600772-17600772;G/A missense_variant False DSTYK@p.E657K 1 0.653594771 ENSG00000133059 chr1:205160250-205160250;C/T missense_variant False DSTYK@p.L837I 1 0.480519481 ENSG00000133059 chr1:205148298-205148298;G/T missense_variant False DSTYK@p.M910V 1 0.526627219 ENSG00000133059 chr1:205147620-205147620;T/C missense_variant False DSTYK@p.R382G 1 0.189873418 ENSG00000133059 chr1:205169343-205169343;G/C missense_variant False DST@p.G1974A 1 0.215384615 ENSG00000151914 chr6:56608074-56608074;C/G missense_variant False DST@p.E3647D 1 0.25 ENSG00000151914 chr6:56600189-56600189;C/G missense_variant False DSTYK@p.V81_A82del 1 0.380952381 ENSG00000133059 chr1:205211291-205211296;GCGACA/- inframe_deletion False DSP@p.T1522R 1 0.150684932 ENSG00000096696 chr6:7580755-7580755;C/G missense_variant False DSPP@p.S479L 1 0.242424242 ENSG00000152591 chr4:87614098-87614098;C/T missense_variant False DSPP@p.Q297E 1 0.162790698 ENSG00000152591 chr4:87613075-87613075;C/G missense_variant False DSPP@p.Q185E 1 0.24137931 ENSG00000152591 chr4:87612739-87612739;C/G missense_variant False DSPP@p.D65E 1 0.365853659 ENSG00000152591 chr4:87612381-87612381;T/A missense_variant False DSPP@p.A133T 1 0.068181818 ENSG00000152591 chr4:87612583-87612583;G/A missense_variant False DSP@p.Y2785C 1 0.68 ENSG00000096696 chr6:7585616-7585616;A/G missense_variant False DSP@p.S2861Y 1 0.073929961 ENSG00000096696 chr6:7585844-7585844;C/A missense_variant False DST@p.E2836K 1 0.274193548 ENSG00000151914 chr6:56605489-56605489;C/T missense_variant False DSP@p.S2608C 1 0.506849315 ENSG00000096696 chr6:7585085-7585085;C/G missense_variant False DSP@p.S2514C 1 0.263157895 ENSG00000096696 chr6:7584803-7584803;C/G missense_variant False DSP@p.S2202L 1 0.414141414 ENSG00000096696 chr6:7583867-7583867;C/T missense_variant False DSP@p.S2022C 1 0.216666667 ENSG00000096696 chr6:7583327-7583327;C/G missense_variant False DSP@p.Q2527E 1 0.109756098 ENSG00000096696 chr6:7584841-7584841;C/G missense_variant False DSP@p.Q1807E 1 0.063829787 ENSG00000096696 chr6:7582681-7582681;C/G missense_variant False DSPP@p.S94C 1 0.285714286 ENSG00000152591 chr4:87612467-87612467;C/G missense_variant False DSPP@p.T132I 1 0.368421053 ENSG00000152591 chr4:87612581-87612581;C/T missense_variant False DSPP@p.T154S 1 0.41509434 ENSG00000152591 chr4:87612647-87612647;C/G missense_variant False DST@p.D2731N 1 0.26 ENSG00000151914 chr6:56605804-56605804;C/T missense_variant False DST@p.D3076N 1 0.239130435 ENSG00000151914 chr6:56604769-56604769;C/T missense_variant False DST@p.D3410Y 1 0.418032787 ENSG00000151914 chr6:56603644-56603644;C/A missense_variant False DST@p.D3633H 1 0.166666667 ENSG00000151914 chr6:56601454-56601454;C/G missense_variant False DST@p.D396N 1 0.175675676 ENSG00000151914 chr6:56642463-56642463;C/T missense_variant False DST@p.D5582H 1 0.323529412 ENSG00000151914 chr6:56527711-56527711;C/G missense_variant False DST@p.D5696N 1 0.218181818 ENSG00000151914 chr6:56526444-56526444;C/T missense_variant False DST@p.D6592N 1 0.318181818 ENSG00000151914 chr6:56492250-56492250;C/T missense_variant False DST@p.D7193N 1 0.242424242 ENSG00000151914 chr6:56469897-56469897;C/T missense_variant False DST@p.E1021G 1 0.301369863 ENSG00000151914 chr6:56632964-56632964;T/C missense_variant False DST@p.E1286K 1 0.111111111 ENSG00000151914 chr6:56628148-56628148;C/T missense_variant False DST@p.E1310K 1 0.32 ENSG00000151914 chr6:56628076-56628076;C/T missense_variant False DST@p.E1464Q 1 0.2 ENSG00000151914 chr6:56614391-56614391;C/G missense_variant False DST@p.E23V 1 0.37037037 ENSG00000151914 chr6:56843078-56843078;T/A missense_variant False DSTYK@p.S14L 1 0.5 ENSG00000133059 chr1:205211495-205211495;G/A missense_variant False DTL@p.C157F 1 0.153846154 ENSG00000143476 chr1:212062893-212062893;G/T missense_variant False DUS4L-BCAP29@p.R308T 1 0.326923077 ENSG00000288558 chr7:107593964-107593964;G/C missense_variant False DTX4@p.G472A 1 0.274509804 ENSG00000110042 chr11:59195248-59195248;G/C missense_variant False DUOX2@p.I1417M 1 0.476190476 ENSG00000140279 chr15:45095080-45095080;G/C missense_variant False DUOX2@p.F1458L 1 0.476923077 ENSG00000140279 chr15:45094957-45094957;G/C missense_variant False DUOX2@p.E810K 1 0.464285714 ENSG00000140279 chr15:45104272-45104272;C/T missense_variant False DUOX1@p.E1348Q 1 0.266666667 ENSG00000137857 chr15:45161923-45161923;G/C missense_variant False DTX4@p.V361I 1 0.277777778 ENSG00000110042 chr11:59189245-59189245;G/A missense_variant False DTX4@p.N595S 1 0.1875 ENSG00000110042 chr11:59204833-59204833;A/G missense_variant False DTX4@p.E611K 1 0.357142857 ENSG00000110042 chr11:59204880-59204880;G/A missense_variant False DTX3L@p.D180N 1 0.253968254 ENSG00000163840 chr3:122568627-122568627;G/A missense_variant False DTX3L@p.S92L 1 0.16 ENSG00000163840 chr3:122565946-122565946;C/T missense_variant False DTX3L@p.S692C 1 0.393939394 ENSG00000163840 chr3:122570594-122570594;C/G missense_variant False DTX3L@p.S591L 1 0.436090226 ENSG00000163840 chr3:122569861-122569861;C/T missense_variant False DTX3L@p.Q299H 1 0.265625 ENSG00000163840 chr3:122568986-122568986;G/T missense_variant False DTX3L@p.M374I 1 0.352380952 ENSG00000163840 chr3:122569211-122569211;G/C missense_variant False DTX3L@p.G544S 1 0.174311927 ENSG00000163840 chr3:122569719-122569719;G/A missense_variant False DUOX2@p.R1211L 1 0.1 ENSG00000140279 chr15:45097675-45097675;C/A missense_variant False DUOX2@p.R422Nfs*52 1 0.134146341 ENSG00000140279 chr15:45108896-45108923;GGATGCTGCTGGCCACATAGTCTGTACG/- frameshift_variant False DUOX2@p.R56Q 1 0.31372549 ENSG00000140279 chr15:45112712-45112712;C/T missense_variant False DUOX2@p.S182N 1 0.25 ENSG00000140279 chr15:45111554-45111554;C/T missense_variant False DUOXA1@p.T23A 1 0.254237288 ENSG00000140254 chr15:45122948-45122948;T/C missense_variant False DUOXA2@p.E147K 1 0.226415094 ENSG00000140274 chr15:45116614-45116614;G/A missense_variant False DUOXA2@p.G6D 1 0.64516129 ENSG00000140274 chr15:45114622-45114622;G/A missense_variant False DUOXA2@p.S239Y 1 0.277777778 ENSG00000140274 chr15:45117252-45117252;C/A missense_variant False DUS1L@p.E366K 1 0.185185185 ENSG00000169718 chr17:82060020-82060020;C/T missense_variant False DUS1L@p.L388V 1 0.214765101 ENSG00000169718 chr17:82059954-82059954;G/C missense_variant False DUS1L@p.Q181H 1 0.117647059 ENSG00000169718 chr17:82061951-82061951;C/G missense_variant False DUS1L@p.R12H 1 0.06 ENSG00000169718 chr17:82065025-82065025;C/T missense_variant False DUS1L@p.R418G 1 0.407407407 ENSG00000169718 chr17:82058371-82058371;G/C missense_variant False DUS2@p.W247C 1 0.314606742 ENSG00000167264 chr16:68071039-68071039;G/T missense_variant False DUS3L@p.E195K 1 0.333333333 ENSG00000141994 chr19:5789524-5789524;C/T missense_variant False DUS3L@p.R234Q 1 0.5 ENSG00000141994 chr19:5789406-5789406;C/T missense_variant False DUS4L-BCAP29@p.K501N 1 0.1484375 ENSG00000288558 chr7:107618341-107618341;G/C missense_variant False DTX3L@p.E395D 1 0.376146789 ENSG00000163840 chr3:122569274-122569274;G/C missense_variant False DTX3@p.R283L 1 0.507692308 ENSG00000178498 chr12:57608617-57608617;G/T missense_variant False DTL@p.E396D 1 0.509433962 ENSG00000143476 chr1:212080677-212080677;G/C missense_variant False DTNA@p.M154I 1 0.333333333 ENSG00000134769 chr18:34811972-34811972;G/A missense_variant False DTNBP1@p.E273K 1 0.10745614 ENSG00000047579 chr6:15523214-15523214;C/T missense_variant False DTNBP1@p.E112K 1 0.1875 ENSG00000047579 chr6:15627364-15627364;C/T missense_variant False DTNB@p.S465C 1 0.409090909 ENSG00000138101 chr2:25432949-25432949;G/C missense_variant False DTNB@p.M342I 1 0.6125 ENSG00000138101 chr2:25482849-25482849;C/T missense_variant False DTNB@p.L227F 1 0.264705882 ENSG00000138101 chr2:25580751-25580751;G/A missense_variant False DTNB@p.H72Y 1 0.244897959 ENSG00000138101 chr2:25628319-25628319;G/A missense_variant False DTNA@p.I127L 1 0.142857143 ENSG00000134769 chr18:34806235-34806235;A/C missense_variant False DTX3@p.R136Q 1 0.428571429 ENSG00000178498 chr12:57607270-57607270;G/A missense_variant False DTNA@p.E506Q 1 0.509433962 ENSG00000134769 chr18:34858349-34858349;G/C missense_variant False DTNA@p.E374K 1 0.176470588 ENSG00000134769 chr18:34838119-34838119;G/A missense_variant False DTNA@p.E325K 1 0.243589744 ENSG00000134769 chr18:34820887-34820887;G/A missense_variant False DTL@p.S520L 1 0.14084507 ENSG00000143476 chr1:212100549-212100549;C/T missense_variant False DTL@p.R678Q 1 0.197183099 ENSG00000143476 chr1:212101023-212101023;G/A missense_variant False DTL@p.F497L 1 0.108108108 ENSG00000143476 chr1:212100481-212100481;C/A missense_variant False DTNBP1@p.F16I 1 0.115384615 ENSG00000047579 chr6:15662824-15662824;A/T missense_variant False DTNBP1@p.S297C 1 0.213675214 ENSG00000047579 chr6:15523141-15523141;G/C missense_variant False DTWD1@p.D170Y 1 0.18627451 ENSG00000104047 chr15:49634635-49634635;G/T missense_variant False DTWD1@p.D191N 1 0.145728643 ENSG00000104047 chr15:49634698-49634698;G/A missense_variant False DTWD1@p.E117A 1 0.078125 ENSG00000104047 chr15:49632244-49632244;A/C missense_variant False DTWD1@p.P142T 1 0.393939394 ENSG00000104047 chr15:49634551-49634551;C/A missense_variant False DTWD1@p.P85A 1 0.2 ENSG00000104047 chr15:49625420-49625420;C/G missense_variant False DTWD2@p.K106E 1 0.132352941 ENSG00000169570 chr5:118939284-118939284;T/C missense_variant False DTX1@p.G476R 1 0.145833333 ENSG00000135144 chr12:113095081-113095081;G/A missense_variant False DTX1@p.M487I 1 0.368421053 ENSG00000135144 chr12:113095116-113095116;G/A missense_variant False DTX2@p.D69H 1 0.210526316 ENSG00000091073 chr7:76480714-76480714;G/C missense_variant False DTX2@p.G212V 1 0.11062591 ENSG00000091073 chr7:76482874-76482874;G/T missense_variant False DTX2@p.L352F 1 0.082987552 ENSG00000091073 chr7:76497381-76497381;C/T missense_variant False DTX2@p.S344L 1 0.148351648 ENSG00000091073 chr7:76497358-76497358;C/T missense_variant False DTX3@p.E161D 1 0.357142857 ENSG00000178498 chr12:57607346-57607346;G/C missense_variant False DTX3@p.E43K 1 0.12745098 ENSG00000178498 chr12:57606990-57606990;G/A missense_variant False DTX3@p.G104V 1 0.29787234 ENSG00000178498 chr12:57607174-57607174;G/T missense_variant False DPF2@p.E255Q 1 0.279069767 ENSG00000133884 chr11:65345791-65345791;G/C missense_variant False DPF2@p.C298Y 1 0.552238806 ENSG00000133884 chr11:65346047-65346047;G/A missense_variant False DNAH7@p.E665D 1 0.8 ENSG00000118997 chr2:195972305-195972305;T/G missense_variant False DNAJC14@p.E576Q 1 0.150793651 ENSG00000135392 chr12:55822641-55822641;C/G missense_variant False DNAJC14@p.Q657H 1 0.175 ENSG00000135392 chr12:55822115-55822115;C/G missense_variant False DNAJC14@p.Q525H 1 0.380530973 ENSG00000135392 chr12:55823129-55823129;T/G missense_variant False DNAJC14@p.L521M 1 0.31 ENSG00000135392 chr12:55823143-55823143;G/T missense_variant False DNAJC14@p.L432F 1 0.289308176 ENSG00000135392 chr12:55827363-55827363;C/G missense_variant False DNAJC14@p.L380V 1 0.113207547 ENSG00000135392 chr12:55827521-55827521;G/C missense_variant False DNAJC14@p.F664L 1 0.256410256 ENSG00000135392 chr12:55822096-55822096;A/G missense_variant False DNAJC13@p.Y1057C 1 0.394366197 ENSG00000138246 chr3:132483565-132483565;A/G missense_variant False DNAJC14@p.S371F 1 0.195121951 ENSG00000135392 chr12:55827547-55827547;G/A missense_variant False DNAJC13@p.T2031A 1 0.319444444 ENSG00000138246 chr3:132525640-132525640;A/G missense_variant False DNAJC13@p.Q447E 1 0.150943396 ENSG00000138246 chr3:132456822-132456822;C/G missense_variant False DNAJC13@p.Q2202R 1 0.247619048 ENSG00000138246 chr3:132531077-132531077;A/G missense_variant False DNAJC13@p.P291L 1 0.284090909 ENSG00000138246 chr3:132454097-132454097;C/T missense_variant False DNAJC13@p.M1897I 1 0.5 ENSG00000138246 chr3:132522845-132522845;G/T missense_variant False DNAJC13@p.L915V 1 0.098039216 ENSG00000138246 chr3:132479260-132479260;C/G missense_variant False DNAJC14@p.R624W 1 0.222222222 ENSG00000135392 chr12:55822401-55822401;G/A missense_variant False DNAJC15@p.E70K 1 0.103448276 ENSG00000120675 chr13:43068977-43068977;G/A missense_variant False DNM1@p.S264P 1 0.859375 ENSG00000106976 chr9:128220282-128220282;T/C missense_variant False DNAJC16@p.L398F 1 0.076923077 ENSG00000116138 chr1:15562181-15562181;G/T missense_variant False DNAJC17@p.Q87H 1 0.13559322 ENSG00000104129 chr15:40779257-40779257;C/G missense_variant False DNAJC17@p.E113K 1 0.371428571 ENSG00000104129 chr15:40776586-40776586;C/T missense_variant False DNAJC17@p.D73N 1 0.386666667 ENSG00000104129 chr15:40779301-40779301;C/T missense_variant False DNAJC16@p.S518C 1 0.17 ENSG00000116138 chr1:15564314-15564314;C/G missense_variant False DNAJC16@p.R4T 1 0.449612403 ENSG00000116138 chr1:15529116-15529116;G/C missense_variant False DNAJC16@p.P247T 1 0.186046512 ENSG00000116138 chr1:15544563-15544563;C/A missense_variant False DNAJC16@p.L307F 1 0.321428571 ENSG00000116138 chr1:15548326-15548326;G/C missense_variant False DNAJC15@p.V103L 1 0.156862745 ENSG00000120675 chr13:43078684-43078684;G/T missense_variant False DNAJC16@p.K85T 1 0.4 ENSG00000116138 chr1:15536494-15536494;A/C missense_variant False DNAJC16@p.E97Q 1 0.483870968 ENSG00000116138 chr1:15536529-15536529;G/C missense_variant False DNAJC16@p.E465K 1 0.107296137 ENSG00000116138 chr1:15563983-15563983;G/A missense_variant False DNAJC16@p.E394Q 1 0.125506073 ENSG00000116138 chr1:15562167-15562167;G/C missense_variant False DNAJC16@p.D728N 1 0.173076923 ENSG00000116138 chr1:15568010-15568010;G/A missense_variant False DNAJC16@p.D68N 1 0.509803922 ENSG00000116138 chr1:15534271-15534271;G/A missense_variant False DNAJC13@p.L1996V 1 0.147239264 ENSG00000138246 chr3:132523639-132523639;C/G missense_variant False DNAJC13@p.I655L 1 0.275862069 ENSG00000138246 chr3:132466065-132466065;A/C missense_variant False DNAJC13@p.I2144V 1 0.290322581 ENSG00000138246 chr3:132528237-132528237;A/G missense_variant False DNAJB8@p.E6K 1 0.434343434 ENSG00000179407 chr3:128463230-128463230;C/T missense_variant False DNAJC10@p.E50K 1 0.21875 ENSG00000077232 chr2:182718234-182718234;G/A missense_variant False DNAJC10@p.E105Q 1 0.378378378 ENSG00000077232 chr2:182720115-182720115;G/C missense_variant False DNAJC10@p.D694H 1 0.131147541 ENSG00000077232 chr2:182759242-182759242;G/C missense_variant False DNAJC10@p.D507N 1 0.128571429 ENSG00000077232 chr2:182752156-182752156;G/A missense_variant False DNAJB9@p.E72K 1 0.08 ENSG00000128590 chr7:108571940-108571940;G/A missense_variant False DNAJB8@p.S165L 1 0.166666667 ENSG00000179407 chr3:128462752-128462752;G/A missense_variant False DNAJB8@p.E41K 1 0.261627907 ENSG00000179407 chr3:128463125-128463125;C/T missense_variant False DNAJC13@p.H120Y 1 0.571428571 ENSG00000138246 chr3:132450668-132450668;C/T missense_variant False DNAJB6@p.G138R 1 0.194594595 ENSG00000105993 chr7:157382311-157382311;G/A missense_variant False DNAJB6@p.E43K 1 0.55 ENSG00000105993 chr7:157363222-157363222;G/A missense_variant False DNAJB5@p.I215M 1 0.24 ENSG00000137094 chr9:34996698-34996698;C/G missense_variant False DNAJB5@p.D284Y 1 0.180645161 ENSG00000137094 chr9:34997062-34997062;G/T missense_variant False DNAJB4@p.H240N 1 0.177777778 ENSG00000162616 chr1:78013557-78013557;C/A missense_variant False DNAJB2@p.S264L 1 0.333333333 ENSG00000135924 chr2:219284803-219284803;C/T missense_variant False DNAJC10@p.E597Q 1 0.363636364 ENSG00000077232 chr2:182756449-182756449;G/C missense_variant False DNAJC10@p.G218R 1 0.442748092 ENSG00000077232 chr2:182729866-182729866;G/A missense_variant False DNAJC10@p.Q733E 1 0.403508772 ENSG00000077232 chr2:182762733-182762733;C/G missense_variant False DNAJC10@p.R49T 1 0.172413793 ENSG00000077232 chr2:182718232-182718232;G/C missense_variant False DNAJC11@p.D317N 1 0.088541667 ENSG00000007923 chr1:6645072-6645072;C/T missense_variant False DNAJC11@p.E102K 1 0.253731343 ENSG00000007923 chr1:6667783-6667783;C/T missense_variant False DNAJC11@p.E13K 1 0.466666667 ENSG00000007923 chr1:6701764-6701764;C/T missense_variant False DNAJC11@p.L546P 1 0.16 ENSG00000007923 chr1:6636134-6636134;A/G missense_variant False DNAJC11@p.S204L 1 0.444444444 ENSG00000007923 chr1:6652848-6652848;G/A missense_variant False DNAJC12@p.E188V 1 0.171428571 ENSG00000108176 chr10:67797150-67797150;T/A missense_variant False DNAJC13@p.D1681N 1 0.316770186 ENSG00000138246 chr3:132507279-132507279;G/A missense_variant False DNAJC13@p.E106K 1 0.152317881 ENSG00000138246 chr3:132447919-132447919;G/A missense_variant False DNAJC13@p.E2235K 1 0.479166667 ENSG00000138246 chr3:132538253-132538253;G/A missense_variant False DNAJC13@p.E595Q 1 0.361111111 ENSG00000138246 chr3:132463708-132463708;G/C missense_variant False DNAJC13@p.E672Q 1 0.208791209 ENSG00000138246 chr3:132466344-132466344;G/C missense_variant False DNAJC13@p.F1325L 1 0.263888889 ENSG00000138246 chr3:132495121-132495121;C/G missense_variant False DNAJC13@p.F1412L 1 0.492063492 ENSG00000138246 chr3:132499205-132499205;C/G missense_variant False DNAJC18@p.D198N 1 0.269230769 ENSG00000170464 chr5:139425082-139425082;C/T missense_variant False DNAJC18@p.S193L 1 0.190082645 ENSG00000170464 chr5:139425096-139425096;G/A missense_variant False DNAJC1@p.E332K 1 0.375 ENSG00000136770 chr10:21806084-21806084;C/T missense_variant False DNASE2@p.V309L 1 0.169491525 ENSG00000105612 chr19:12876148-12876148;C/A missense_variant False DNHD1@p.D18H 1 0.309677419 ENSG00000179532 chr11:6498267-6498267;G/C missense_variant False DNER@p.S560R 1 0.088235294 ENSG00000187957 chr2:229407275-229407275;G/T missense_variant False DNER@p.I253M 1 0.115384615 ENSG00000187957 chr2:229585946-229585946;T/C missense_variant False DNER@p.E428K 1 0.095238095 ENSG00000187957 chr2:229447520-229447520;C/T missense_variant False DNASE2B@p.R318H 1 0.234042553 ENSG00000137976 chr1:84414735-84414735;G/A missense_variant False DNASE2B@p.D112N 1 0.375 ENSG00000137976 chr1:84408467-84408467;G/A missense_variant False DNASE1L3@p.D189Y 1 0.326086957 ENSG00000163687 chr3:58197960-58197960;C/A missense_variant False DNAJC6@p.P200Q 1 0.108108108 ENSG00000116675 chr1:65384296-65384296;C/A missense_variant False DNASE1L3@p.D174N 1 0.378640777 ENSG00000163687 chr3:58201023-58201023;C/T missense_variant False DNAL4@p.E5Q 1 0.238095238 ENSG00000100246 chr22:38782719-38782719;C/G missense_variant False DNAL1@p.D189H 1 0.4 ENSG00000119661 chr14:73695934-73695934;G/C missense_variant False DNAJC9@p.Q184R 1 0.123188406 ENSG00000213551 chr10:73245947-73245947;T/C missense_variant False DNAJC8@p.G13V 1 0.119402985 ENSG00000126698 chr1:28232961-28232961;C/A missense_variant False DNAJC6@p.S555F 1 0.333333333 ENSG00000116675 chr1:65392797-65392797;C/T missense_variant False DNHD1@p.D565N 1 0.861702128 ENSG00000179532 chr11:6520010-6520010;G/A missense_variant False DNHD1@p.E504Q 1 0.371134021 ENSG00000179532 chr11:6519717-6519717;G/C missense_variant False DNHD1@p.F326V 1 0.442105263 ENSG00000179532 chr11:6508935-6508935;T/G missense_variant False DNHD1@p.G4512S 1 0.296296296 ENSG00000179532 chr11:6571046-6571046;G/A missense_variant False DNHD1@p.L3942V 1 0.260869565 ENSG00000179532 chr11:6567333-6567333;C/G missense_variant False DNHD1@p.L4264V 1 0.545454545 ENSG00000179532 chr11:6568793-6568793;C/G missense_variant False DNHD1@p.Q3842H 1 0.073170732 ENSG00000179532 chr11:6567035-6567035;G/C missense_variant False DNHD1@p.R195H 1 0.555555556 ENSG00000179532 chr11:6498799-6498799;G/A missense_variant False DNHD1@p.R4462C 1 0.274193548 ENSG00000179532 chr11:6570896-6570896;C/T missense_variant False DNHD1@p.S419Y 1 0.345794393 ENSG00000179532 chr11:6511293-6511293;C/A missense_variant False DNHD1@p.S4421L 1 0.277777778 ENSG00000179532 chr11:6570774-6570774;C/T missense_variant False DNLZ@p.S87C 1 0.615384615 ENSG00000213221 chr9:136363097-136363097;G/C missense_variant False DNM1@p.E308Q 1 0.247191011 ENSG00000106976 chr9:128222269-128222269;G/C missense_variant False DNM1@p.E410Q 1 0.078947368 ENSG00000106976 chr9:128224282-128224282;G/C missense_variant False DNM1@p.L665V 1 0.037037037 ENSG00000106976 chr9:128248670-128248670;C/G missense_variant False DNM1@p.N50H 1 0.4375 ENSG00000106976 chr9:128203618-128203618;A/C missense_variant False DNM1@p.Q441_T443del 1 0.202380952 ENSG00000106976 chr9:128224375-128224383;CAGTGCACC/- inframe_deletion False DNAJC6@p.Q612R 1 0.059288538 ENSG00000116675 chr1:65395000-65395000;A/G missense_variant False DNAJC6@p.K229E 1 0.202898551 ENSG00000116675 chr1:65385767-65385767;A/G missense_variant False DNAJC1@p.G515V 1 0.175 ENSG00000136770 chr10:21759222-21759222;C/A missense_variant False DNAJC22@p.V180E 1 0.317073171 ENSG00000178401 chr12:49349411-49349411;T/A missense_variant False DNAJC2@p.E132K 1 0.232142857 ENSG00000105821 chr7:103327692-103327692;C/T missense_variant False DNAJC28@p.Q301E 1 0.445833333 ENSG00000177692 chr21:33488493-33488493;G/C missense_variant False DNAJC28@p.Q209R 1 0.396551724 ENSG00000177692 chr21:33488768-33488768;T/C missense_variant False DNAJC28@p.K370N 1 0.189655172 ENSG00000177692 chr21:33488284-33488284;C/G missense_variant False DNAJC28@p.K195N 1 0.222222222 ENSG00000177692 chr21:33488809-33488809;C/A missense_variant False DNAJC25@p.K227T 1 0.425 ENSG00000059769 chr9:111649643-111649643;A/C missense_variant False DNAJC22@p.L310M 1 0.434782609 ENSG00000178401 chr12:49351404-49351404;C/A missense_variant False DNAJC6@p.H794D 1 0.13559322 ENSG00000116675 chr1:65408700-65408700;C/G missense_variant False DNAJC21@p.G76W 1 0.31372549 ENSG00000168724 chr5:34935744-34935744;G/T missense_variant False DNAJC21@p.D13N 1 0.388888889 ENSG00000168724 chr5:34929856-34929856;G/A missense_variant False DNAJC21@p.D133N 1 0.25 ENSG00000168724 chr5:34936225-34936225;G/A missense_variant False DNAJC21@p.D132N 1 0.238410596 ENSG00000168724 chr5:34936222-34936222;G/A missense_variant False DNAJC21@p.A563T 1 0.15625 ENSG00000168724 chr5:34954670-34954670;G/A missense_variant False DNAJC1@p.M410I 1 0.27027027 ENSG00000136770 chr10:21759536-21759536;C/G missense_variant False DNAJC2@p.E405K 1 0.225806452 ENSG00000105821 chr7:103319638-103319638;C/T missense_variant False DNAJC2@p.Y100C 1 0.063492063 ENSG00000105821 chr7:103337768-103337768;T/C missense_variant False DNAJC30@p.E86K 1 0.225806452 ENSG00000176410 chr7:73683168-73683168;C/T missense_variant False DNAJC30@p.F219L 1 0.131147541 ENSG00000176410 chr7:73682767-73682767;G/T missense_variant False DNAJC3@p.D55N 1 0.174603175 ENSG00000102580 chr13:95709307-95709307;G/A missense_variant False DNAJC3@p.E140K 1 0.428571429 ENSG00000102580 chr13:95757668-95757668;G/A missense_variant False DNAJC3@p.E348Q 1 0.292553191 ENSG00000102580 chr13:95763920-95763920;G/C missense_variant False DNAJC3@p.K432N 1 0.5 ENSG00000102580 chr13:95787094-95787094;G/T missense_variant False DNAJC3@p.L57V 1 0.4 ENSG00000102580 chr13:95709313-95709313;T/G missense_variant False DNAJC3@p.R77Sfs*10 1 0.316666667 ENSG00000102580 chr13:95723279-95723298;GGCTACTGTCTTTTTAGCTA/- frameshift_variant False DNAJC4@p.Q155Cfs*23 1 0.16 ENSG00000110011 chr11:64232794-64232797;AAAC/- frameshift_variant False DNAJC5@p.A63T 1 0.2 ENSG00000101152 chr20:63929391-63929391;G/A missense_variant False DNAJC5B@p.E34Q 1 0.118644068 ENSG00000147570 chr8:66051647-66051647;G/C missense_variant False DNAJC5B@p.G25A 1 0.15625 ENSG00000147570 chr8:66051621-66051621;G/C missense_variant False DNAJC5G@p.S36Y 1 0.586956522 ENSG00000163793 chr2:27276835-27276835;C/A missense_variant False DNAJC6@p.D13Y 1 0.106382979 ENSG00000116675 chr1:65364649-65364649;G/T missense_variant False DNAJC6@p.D681Y 1 0.252747253 ENSG00000116675 chr1:65401865-65401865;G/T missense_variant False DNAJB2@p.R62Q 1 0.1875 ENSG00000135924 chr2:219281727-219281727;G/A missense_variant False DNAJB2@p.Q127E 1 0.266666667 ENSG00000135924 chr2:219282863-219282863;C/G missense_variant False DNAJB2@p.P112R 1 0.5 ENSG00000135924 chr2:219282044-219282044;C/G missense_variant False DNAH8@p.L240F 1 0.5 ENSG00000124721 chr6:38750553-38750553;G/T missense_variant False DNAH8@p.P64A 1 0.25 ENSG00000124721 chr6:38737145-38737145;C/G missense_variant False DNAH8@p.P512H 1 0.2 ENSG00000124721 chr6:38781300-38781300;C/A missense_variant False DNAH8@p.P2311L 1 0.126436782 ENSG00000124721 chr6:38873339-38873339;C/T missense_variant False DNAH8@p.N277D 1 0.304347826 ENSG00000124721 chr6:38756044-38756044;A/G missense_variant False DNAH8@p.L760V 1 0.173076923 ENSG00000124721 chr6:38803206-38803206;C/G missense_variant False DNAH8@p.L714F 1 0.171428571 ENSG00000124721 chr6:38791566-38791566;G/C missense_variant False DNAH8@p.L1991V 1 0.106666667 ENSG00000124721 chr6:38866805-38866805;C/G missense_variant False DNAH8@p.E4143Q 1 0.330097087 ENSG00000124721 chr6:38990036-38990036;G/C missense_variant False DNAH8@p.K671Rfs*6 1 0.161616162 ENSG00000124721 chr6:38789878-38789878;A/- frameshift_variant False DNAH8@p.I1995M 1 0.098360656 ENSG00000124721 chr6:38866819-38866819;C/G missense_variant False DNAH8@p.H4182Y 1 0.282208589 ENSG00000124721 chr6:38990153-38990153;C/T missense_variant False DNAH8@p.E84K 1 0.224137931 ENSG00000124721 chr6:38737205-38737205;G/A missense_variant False DNAH8@p.E815D 1 0.276923077 ENSG00000124721 chr6:38805542-38805542;A/C missense_variant False DNAH8@p.E783Q 1 0.166666667 ENSG00000124721 chr6:38803275-38803275;G/C missense_variant False DNAH8@p.Q1762H 1 0.548387097 ENSG00000124721 chr6:38857721-38857721;G/C missense_variant False DNAH8@p.R274S 1 0.533333333 ENSG00000124721 chr6:38756037-38756037;G/C missense_variant False DNAH8@p.R3872H 1 0.389380531 ENSG00000124721 chr6:38951335-38951335;G/A missense_variant False DNAH8@p.R3949G 1 0.27027027 ENSG00000124721 chr6:38971636-38971636;C/G missense_variant False DNAH8@p.R4108W 1 0.475 ENSG00000124721 chr6:38984227-38984227;C/T missense_variant False DNAH8@p.R4217P 1 0.404040404 ENSG00000124721 chr6:39008900-39008900;G/C missense_variant False DNAH8@p.R930H 1 0.128205128 ENSG00000124721 chr6:38815574-38815574;G/A missense_variant False DNAH8@p.S2267C 1 0.214285714 ENSG00000124721 chr6:38873119-38873119;C/G missense_variant False DNAH8@p.S2267F 1 0.226190476 ENSG00000124721 chr6:38873119-38873119;C/T missense_variant False DNAH8@p.S3085F 1 0.302325581 ENSG00000124721 chr6:38913894-38913894;C/T missense_variant False DNAH8@p.S3112N 1 0.102040816 ENSG00000124721 chr6:38915223-38915223;G/A missense_variant False DNAH8@p.S4011Y 1 0.126760563 ENSG00000124721 chr6:38974378-38974378;C/A missense_variant False DNAH8@p.S4195C 1 0.097701149 ENSG00000124721 chr6:39008834-39008834;C/G missense_variant False DNAH8@p.T2030N 1 0.446808511 ENSG00000124721 chr6:38868108-38868108;C/A missense_variant False DNAH8@p.W1300Gfs*4 1 0.231578947 ENSG00000124721 chr6:38842448-38842448;T/- frameshift_variant False DNAH9@p.A722V 1 0.659090909 ENSG00000007174 chr17:11651136-11651136;C/T missense_variant False DNAH9@p.D2188N 1 0.293103448 ENSG00000007174 chr17:11747718-11747718;G/A missense_variant False DNAH8@p.E4215K 1 0.043209877 ENSG00000124721 chr6:39008893-39008893;G/A missense_variant False DNAH8@p.E1563K 1 0.241935484 ENSG00000124721 chr6:38850389-38850389;G/A missense_variant False DNAH9@p.E1739Q 1 0.315384615 ENSG00000007174 chr17:11704266-11704266;G/C missense_variant False DNAH7@p.P2104A 1 0.071428571 ENSG00000118997 chr2:195873671-195873671;G/C missense_variant False DNAH7@p.Q3890H 1 0.129032258 ENSG00000118997 chr2:195754431-195754431;C/G missense_variant False DNAH7@p.Q3380E 1 0.293103448 ENSG00000118997 chr2:195806778-195806778;G/C missense_variant False DNAH7@p.Q1917K 1 0.916666667 ENSG00000118997 chr2:195884599-195884599;G/T missense_variant False DNAH7@p.P4003S 1 0.163265306 ENSG00000118997 chr2:195737989-195737989;G/A missense_variant False DNAH7@p.P2993T 1 0.252747253 ENSG00000118997 chr2:195834329-195834329;G/T missense_variant False DNAH7@p.P2993A 1 0.086021505 ENSG00000118997 chr2:195834329-195834329;G/C missense_variant False DNAH7@p.L1873I 1 0.789473684 ENSG00000118997 chr2:195884731-195884731;G/T missense_variant False DNAH8@p.E1161K 1 0.159090909 ENSG00000124721 chr6:38828232-38828232;G/A missense_variant False DNAH7@p.L1819V 1 0.296296296 ENSG00000118997 chr2:195886224-195886224;G/C missense_variant False DNAH7@p.I1949V 1 0.298245614 ENSG00000118997 chr2:195881911-195881911;T/C missense_variant False DNAH7@p.H2322N 1 0.089552239 ENSG00000118997 chr2:195864691-195864691;G/T missense_variant False DNAH7@p.F3340L 1 0.295597484 ENSG00000118997 chr2:195808745-195808745;G/C missense_variant False DNAH7@p.E742K 1 0.344262295 ENSG00000118997 chr2:195960927-195960927;C/T missense_variant False DNAH7@p.E668Q 1 0.227848101 ENSG00000118997 chr2:195972298-195972298;C/G missense_variant False DNAH7@p.Q723E 1 0.119402985 ENSG00000118997 chr2:195969986-195969986;G/C missense_variant False DNAH7@p.R2181H 1 0.454545455 ENSG00000118997 chr2:195872341-195872341;C/T missense_variant False DNAH7@p.R2466L 1 0.3125 ENSG00000118997 chr2:195864258-195864258;C/A missense_variant False DNAH7@p.S141L 1 0.122807018 ENSG00000118997 chr2:196028024-196028024;G/A missense_variant False DNAH7@p.S2021L 1 0.171875 ENSG00000118997 chr2:195876599-195876599;G/A missense_variant False DNAH7@p.S2368C 1 0.141304348 ENSG00000118997 chr2:195864552-195864552;G/C missense_variant False DNAH7@p.S2728L 1 0.148148148 ENSG00000118997 chr2:195857608-195857608;G/A missense_variant False DNAH7@p.S2787C 1 0.225352113 ENSG00000118997 chr2:195857431-195857431;G/C missense_variant False DNAH7@p.S3993F 1 0.84375 ENSG00000118997 chr2:195738018-195738018;G/A missense_variant False DNAH7@p.S484Cfs*5 1 0.155555556 ENSG00000118997 chr2:195988132-195988133;CT/- frameshift_variant False DNAH7@p.T1133I 1 0.153333333 ENSG00000118997 chr2:195934664-195934664;G/A missense_variant False DNAH7@p.V3012L 1 0.705882353 ENSG00000118997 chr2:195834272-195834272;C/A missense_variant False DNAH7@p.V394F 1 0.22 ENSG00000118997 chr2:196000877-196000877;C/A missense_variant False DNAH7@p.V479A 1 0.240740741 ENSG00000118997 chr2:195988147-195988147;A/G missense_variant False DNAH8@p.A3684V 1 0.098901099 ENSG00000124721 chr6:38938112-38938112;C/T missense_variant False DNAH8@p.D2932H 1 0.785714286 ENSG00000124721 chr6:38908052-38908052;G/C missense_variant False DNAH8@p.D4039H 1 0.295652174 ENSG00000124721 chr6:38974461-38974461;G/C missense_variant False DNAH9@p.D2243N 1 0.322033898 ENSG00000007174 chr17:11752949-11752949;G/A missense_variant False DNAH9@p.E2066K 1 0.823529412 ENSG00000007174 chr17:11744881-11744881;G/A missense_variant False DNAJB1@p.E18Q 1 0.237288136 ENSG00000132002 chr19:14518298-14518298;C/G missense_variant False DNAI4@p.R269I 1 0.444444444 ENSG00000152763 chr1:66871504-66871504;C/A missense_variant False DNAJA1@p.H290Y 1 0.28125 ENSG00000086061 chr9:33036683-33036683;C/T missense_variant False DNAJA1@p.G93E 1 0.642857143 ENSG00000086061 chr9:33026958-33026958;G/A missense_variant False DNAJA1@p.E69Q 1 0.185714286 ENSG00000086061 chr9:33026885-33026885;G/C missense_variant False DNAJA1@p.E53K 1 0.125 ENSG00000086061 chr9:33026837-33026837;G/A missense_variant False DNAJA1@p.E21Q 1 0.15 ENSG00000086061 chr9:33026545-33026545;G/C missense_variant False DNAI4@p.S335L 1 0.341463415 ENSG00000152763 chr1:66862239-66862239;G/A missense_variant False DNAI4@p.M407I 1 0.105263158 ENSG00000152763 chr1:66847554-66847554;C/A missense_variant False DNAI3@p.Q534Pfs*12 1 0.179487179 ENSG00000162643 chr1:85108073-85108074;-/C frameshift_variant False DNAI4@p.M291L 1 0.421875 ENSG00000152763 chr1:66871439-66871439;T/A missense_variant False DNAI4@p.I618M 1 0.25 ENSG00000152763 chr1:66834028-66834028;G/C missense_variant False DNAI4@p.I612L 1 0.297029703 ENSG00000152763 chr1:66834048-66834048;T/A missense_variant False DNAI4@p.H686D 1 0.088495575 ENSG00000152763 chr1:66827868-66827868;G/C missense_variant False DNAI4@p.E201K 1 0.2 ENSG00000152763 chr1:66891196-66891196;C/T missense_variant False DNAI4@p.D615Y 1 0.303571429 ENSG00000152763 chr1:66834039-66834039;C/A missense_variant False DNAJA1@p.R192I 1 0.392857143 ENSG00000086061 chr9:33030599-33030599;G/T missense_variant False DNAJA2@p.N3S 1 0.367346939 ENSG00000069345 chr16:46973565-46973565;T/C missense_variant False DNAJA3@p.F228L 1 0.488 ENSG00000103423 chr16:4442321-4442321;C/A missense_variant False DNAJA3@p.Q96H 1 0.279792746 ENSG00000103423 chr16:4434460-4434460;G/C missense_variant False DNAJA4@p.Q175E 1 0.307692308 ENSG00000140403 chr15:78274301-78274301;C/G missense_variant False DNAJA4@p.Q361E 1 0.923076923 ENSG00000140403 chr15:78280347-78280347;C/G missense_variant False DNAJB11@p.K291N 1 0.275862069 ENSG00000090520 chr3:186584450-186584450;G/C missense_variant False DNAJB11@p.R254K 1 0.179104478 ENSG00000090520 chr3:186583885-186583885;G/A missense_variant False DNAJB11@p.Y27C 1 0.590163934 ENSG00000090520 chr3:186572106-186572106;A/G missense_variant False DNAJB12@p.D231N 1 0.173913043 ENSG00000148719 chr10:72341039-72341039;C/T missense_variant False DNAJB13@p.E199D 1 0.588235294 ENSG00000187726 chr11:73966242-73966242;A/C missense_variant False DNAJB13@p.R26K 1 0.175 ENSG00000187726 chr11:73958325-73958325;G/A missense_variant False DNAJB13@p.W86C 1 0.770642202 ENSG00000187726 chr11:73959579-73959579;G/C missense_variant False DNAJB14@p.L124F 1 0.09375 ENSG00000164031 chr4:99923119-99923119;C/G missense_variant False DNAJB14@p.R242T 1 0.142857143 ENSG00000164031 chr4:99906524-99906524;C/G missense_variant False DNAJB1@p.D57Y 1 0.151515152 ENSG00000132002 chr19:14518181-14518181;C/A missense_variant False DNAJB1@p.E18K 1 0.395833333 ENSG00000132002 chr19:14518298-14518298;C/T missense_variant False DNAI3@p.Q848E 1 0.451612903 ENSG00000162643 chr1:85132864-85132864;C/G missense_variant False DNAI3@p.I763M 1 0.379746835 ENSG00000162643 chr1:85126687-85126687;C/G missense_variant False DNAH9@p.E2254Q 1 0.191588785 ENSG00000007174 chr17:11756589-11756589;G/C missense_variant False DNAH9@p.K1597N 1 0.461538462 ENSG00000007174 chr17:11694366-11694366;G/C missense_variant False DNAH9@p.Q1236K 1 0.35483871 ENSG00000007174 chr17:11680852-11680852;C/A missense_variant False DNAH9@p.P4018L 1 0.222222222 ENSG00000007174 chr17:11930041-11930041;C/T missense_variant False DNAH9@p.P2297Lfs*3 1 0.245901639 ENSG00000007174 chr17:11757586-11757596;CCAGTGAGCAG/- frameshift_variant False DNAH9@p.K808I 1 0.430232558 ENSG00000007174 chr17:11652830-11652830;A/T missense_variant False DNAH9@p.K4382N 1 0.201834862 ENSG00000007174 chr17:11962169-11962169;G/C missense_variant False DNAH9@p.K3063Q 1 0.466666667 ENSG00000007174 chr17:11822975-11822975;A/C missense_variant False DNAH9@p.G629E 1 0.072289157 ENSG00000007174 chr17:11640369-11640369;G/A missense_variant False DNAI3@p.E122K 1 0.159090909 ENSG00000162643 chr1:85082378-85082378;G/A missense_variant False DNAH9@p.E4246K 1 0.140243902 ENSG00000007174 chr17:11942378-11942378;G/A missense_variant False DNAH9@p.E3655Q 1 0.128205128 ENSG00000007174 chr17:11883742-11883742;G/C missense_variant False DNAH9@p.E3373K 1 0.262711864 ENSG00000007174 chr17:11871661-11871661;G/A missense_variant False DNAH9@p.E2765K 1 0.227272727 ENSG00000007174 chr17:11797666-11797666;G/A missense_variant False DNAH9@p.E2456Q 1 0.571428571 ENSG00000007174 chr17:11769143-11769143;G/C missense_variant False DNAH9@p.E2440K 1 0.412698413 ENSG00000007174 chr17:11768600-11768600;G/A missense_variant False DNAH9@p.Q3649H 1 0.075471698 ENSG00000007174 chr17:11883726-11883726;G/T missense_variant False DNAH9@p.R1947K 1 0.359375 ENSG00000007174 chr17:11738905-11738905;G/A missense_variant False DNAH9@p.R3242K 1 0.292035398 ENSG00000007174 chr17:11854220-11854220;G/A missense_variant False DNAH9@p.R3850C 1 0.193548387 ENSG00000007174 chr17:11902860-11902860;C/T missense_variant False DNAH9@p.R4217K 1 0.309090909 ENSG00000007174 chr17:11937512-11937512;G/A missense_variant False DNAH9@p.S1056F 1 0.466666667 ENSG00000007174 chr17:11669608-11669608;C/T missense_variant False DNAI1@p.D125H 1 0.190082645 ENSG00000122735 chr9:34489434-34489434;G/C missense_variant False DNAI1@p.G118A 1 0.078947368 ENSG00000122735 chr9:34489414-34489414;G/C missense_variant False DNAI1@p.I654V 1 0.475409836 ENSG00000122735 chr9:34517426-34517426;A/G missense_variant False DNAI1@p.K256E 1 0.361702128 ENSG00000122735 chr9:34493278-34493278;A/G missense_variant False DNAI2@p.E507K 1 0.102040816 ENSG00000171595 chr17:74312027-74312027;G/A missense_variant False DNAI2@p.E549K 1 0.368421053 ENSG00000171595 chr17:74312153-74312153;G/A missense_variant False DNAI2@p.E78Q 1 0.102272727 ENSG00000171595 chr17:74285088-74285088;G/C missense_variant False DNAI2@p.K311R 1 0.365771812 ENSG00000171595 chr17:74301113-74301113;A/G missense_variant False DNAI2@p.K508N 1 0.358974359 ENSG00000171595 chr17:74312032-74312032;G/C missense_variant False DNAI2@p.M438L 1 0.333333333 ENSG00000171595 chr17:74309353-74309353;A/C missense_variant False DNAI2@p.S398L 1 0.366666667 ENSG00000171595 chr17:74305424-74305424;C/T missense_variant False DNM1@p.R369C 1 0.065789474 ENSG00000106976 chr9:128222573-128222573;C/T missense_variant False DNM1L@p.R167T 1 0.473684211 ENSG00000087470 chr12:32713252-32713252;G/C missense_variant False DPF1@p.C168R 1 0.41509434 ENSG00000011332 chr19:38218936-38218936;A/G missense_variant False DOCK9@p.D263N 1 0.593220339 ENSG00000088387 chr13:98915434-98915434;C/T missense_variant False DOCK9@p.K746N 1 0.138461538 ENSG00000088387 chr13:98885730-98885730;C/G missense_variant False DOCK9@p.K1140N 1 0.14159292 ENSG00000088387 chr13:98863415-98863415;C/G missense_variant False DOCK9@p.F830C 1 0.485714286 ENSG00000088387 chr13:98883112-98883112;A/C missense_variant False DOCK9@p.E1842Q 1 0.173913043 ENSG00000088387 chr13:98807693-98807693;C/G missense_variant False DOCK9@p.E1593Q 1 0.540540541 ENSG00000088387 chr13:98829426-98829426;C/G missense_variant False DOCK9@p.E1266K 1 0.327586207 ENSG00000088387 chr13:98855933-98855933;C/T missense_variant False DOCK9@p.D1837H 1 0.192982456 ENSG00000088387 chr13:98807708-98807708;C/G missense_variant False DOCK9@p.P626S 1 0.096153846 ENSG00000088387 chr13:98888461-98888461;G/A missense_variant False DOCK9@p.D1149N 1 0.12195122 ENSG00000088387 chr13:98863390-98863390;C/T missense_variant False DOCK8@p.S494L 1 0.222222222 ENSG00000107099 chr9:339064-339064;C/T missense_variant False DOCK8@p.R436G 1 0.191489362 ENSG00000107099 chr9:336602-336602;C/G missense_variant False DOCK8@p.Q1974H 1 0.365079365 ENSG00000107099 chr9:449888-449888;G/C missense_variant False DOCK8@p.K379N 1 0.317073171 ENSG00000107099 chr9:334236-334236;G/C missense_variant False DOCK8@p.H319Y 1 0.136363636 ENSG00000107099 chr9:328082-328082;C/T missense_variant False DOCK9@p.M1357I 1 0.352941176 ENSG00000088387 chr13:98845982-98845982;C/G missense_variant False DOCK9@p.Q1584H 1 0.473684211 ENSG00000088387 chr13:98829451-98829451;C/G missense_variant False DNM1L@p.S412L 1 0.344827586 ENSG00000087470 chr12:32731390-32731390;C/T missense_variant False DOK2@p.R266L 1 0.086956522 ENSG00000147443 chr8:21909753-21909753;C/A missense_variant False DOK7@p.S186L 1 0.151515152 ENSG00000175920 chr4:3485563-3485563;C/T missense_variant False DOK6@p.E123K 1 0.142857143 ENSG00000206052 chr18:69677811-69677811;G/A missense_variant False DOK5@p.S178C 1 0.101851852 ENSG00000101134 chr20:54591739-54591739;C/G missense_variant False DOK5@p.E95K 1 0.219512195 ENSG00000101134 chr20:54588591-54588591;G/A missense_variant False DOK4@p.Y187C 1 0.254237288 ENSG00000125170 chr16:57474832-57474832;T/C missense_variant False DOK4@p.V223I 1 0.25862069 ENSG00000125170 chr16:57473972-57473972;C/T missense_variant False DOK2@p.Q323E 1 0.386363636 ENSG00000147443 chr8:21909583-21909583;G/C missense_variant False DOCK9@p.R694T 1 0.457142857 ENSG00000088387 chr13:98886587-98886587;C/G missense_variant False DOK1@p.Q346K 1 0.169811321 ENSG00000115325 chr2:74556704-74556704;C/A missense_variant False DOK1@p.G256E 1 0.435897436 ENSG00000115325 chr2:74556435-74556435;G/A missense_variant False DOK1@p.E246Q 1 0.50862069 ENSG00000115325 chr2:74556404-74556404;G/C missense_variant False DOK1@p.E246K 1 0.41509434 ENSG00000115325 chr2:74556404-74556404;G/A missense_variant False DOCK9@p.V16I 1 0.377777778 ENSG00000088387 chr13:99015563-99015563;C/T missense_variant False DOCK9@p.S959L 1 0.326086957 ENSG00000088387 chr13:98879965-98879965;G/A missense_variant False DOCK8@p.F312L 1 0.216981132 ENSG00000107099 chr9:328063-328063;C/G missense_variant False DOCK8@p.F1899L 1 0.422885572 ENSG00000107099 chr9:446486-446486;C/G missense_variant False DOCK8@p.E223Q 1 0.119402985 ENSG00000107099 chr9:312092-312092;G/C missense_variant False DOCK6@p.P555Rfs*23 1 0.303030303 ENSG00000130158 chr19:11238284-11238284;G/- frameshift_variant False DOCK7@p.D1276N 1 0.341463415 ENSG00000116641 chr1:62528261-62528261;C/T missense_variant False DOCK6@p.Y1630C 1 0.3 ENSG00000130158 chr19:11208966-11208966;T/C missense_variant False DOCK6@p.S566F 1 0.4 ENSG00000130158 chr19:11238251-11238251;G/A missense_variant False DOCK6@p.S447C 1 0.444444444 ENSG00000130158 chr19:11243304-11243304;G/C missense_variant False DOCK6@p.S159F 1 0.4375 ENSG00000130158 chr19:11252150-11252150;G/A missense_variant False DOCK6@p.S1511L 1 0.16 ENSG00000130158 chr19:11212111-11212111;G/A missense_variant False DOCK6@p.P1177T 1 0.301333333 ENSG00000130158 chr19:11221872-11221872;G/T missense_variant False DOCK8@p.E1680Q 1 0.243243243 ENSG00000107099 chr9:434934-434934;G/C missense_variant False DOCK6@p.P1177L 1 0.303430079 ENSG00000130158 chr19:11221871-11221871;G/A missense_variant False DOCK6@p.K879N 1 0.365853659 ENSG00000130158 chr19:11233284-11233284;C/G missense_variant False DOCK6@p.F727L 1 0.388888889 ENSG00000130158 chr19:11236557-11236557;G/T missense_variant False DOCK6@p.E57K 1 0.333333333 ENSG00000130158 chr19:11252922-11252922;C/T missense_variant False DOCK6@p.E1766K 1 0.048689139 ENSG00000130158 chr19:11202649-11202649;C/T missense_variant False DOCK6@p.D1763N 1 0.409448819 ENSG00000130158 chr19:11202658-11202658;C/T missense_variant False DOCK7@p.D197H 1 0.214285714 ENSG00000116641 chr1:62648249-62648249;C/G missense_variant False DOCK7@p.D197N 1 0.382716049 ENSG00000116641 chr1:62648249-62648249;C/T missense_variant False DOCK7@p.D197Y 1 0.125 ENSG00000116641 chr1:62648249-62648249;C/A missense_variant False DOCK7@p.H2058D 1 0.346938776 ENSG00000116641 chr1:62474022-62474022;G/C missense_variant False DOCK7@p.L792V 1 0.306451613 ENSG00000116641 chr1:62559046-62559046;G/C missense_variant False DOCK7@p.P1179S 1 0.509433962 ENSG00000116641 chr1:62535569-62535569;G/A missense_variant False DOCK7@p.P2015A 1 0.4 ENSG00000116641 chr1:62475270-62475270;G/C missense_variant False DOCK7@p.R802I 1 0.105263158 ENSG00000116641 chr1:62559015-62559015;C/A missense_variant False DOCK7@p.S1058L 1 0.085714286 ENSG00000116641 chr1:62539765-62539765;G/A missense_variant False DOCK7@p.S1103L 1 0.128712871 ENSG00000116641 chr1:62538054-62538054;G/A missense_variant False DOCK7@p.S1495C 1 0.063829787 ENSG00000116641 chr1:62505809-62505809;G/C missense_variant False DOCK7@p.S496C 1 0.348484848 ENSG00000116641 chr1:62619932-62619932;G/C missense_variant False DOCK7@p.S817C 1 0.264150943 ENSG00000116641 chr1:62555971-62555971;G/C missense_variant False DOCK7@p.S817Y 1 0.104 ENSG00000116641 chr1:62555971-62555971;G/T missense_variant False DOCK7@p.V1000L 1 0.192307692 ENSG00000116641 chr1:62542655-62542655;C/G missense_variant False DOCK8@p.D1413Y 1 0.487179487 ENSG00000107099 chr9:422131-422131;G/T missense_variant False DOCK8@p.D292G 1 0.481481481 ENSG00000107099 chr9:325718-325718;A/G missense_variant False DOK7@p.S371L 1 0.233333333 ENSG00000175920 chr4:3493098-3493098;C/T missense_variant False DOLK@p.D451N 1 0.123595506 ENSG00000175283 chr9:128945953-128945953;C/T missense_variant False DOLK@p.R3Q 1 0.178082192 ENSG00000175283 chr9:128947296-128947296;C/T missense_variant False DOT1L@p.D50N 1 0.135327635 ENSG00000104885 chr19:2185877-2185877;G/A missense_variant False DOT1L@p.M1479V 1 0.25 ENSG00000104885 chr19:2226956-2226956;A/G missense_variant False DOT1L@p.K1203I 1 0.23364486 ENSG00000104885 chr19:2225399-2225399;A/T missense_variant False DOT1L@p.H35Y 1 0.541666667 ENSG00000104885 chr19:2180734-2180734;C/T missense_variant False DOT1L@p.E843D 1 0.260869565 ENSG00000104885 chr19:2217075-2217075;G/C missense_variant False DOT1L@p.E710K 1 0.203125 ENSG00000104885 chr19:2216485-2216485;G/A missense_variant False DOT1L@p.E248D 1 0.442307692 ENSG00000104885 chr19:2202736-2202736;G/T missense_variant False DOT1L@p.D157N 1 0.28125 ENSG00000104885 chr19:2191216-2191216;G/A missense_variant False DOP1B@p.L52Rfs*4 1 0.315789474 ENSG00000142197 chr21:36199075-36199076;-/CAGAGTAA frameshift_variant False DOP1B@p.S55C 1 0.469135802 ENSG00000142197 chr21:36199095-36199095;C/G missense_variant False DOP1B@p.S2084C 1 0.205128205 ENSG00000142197 chr21:36288104-36288104;C/G missense_variant False DOP1B@p.S1658C 1 0.205882353 ENSG00000142197 chr21:36248543-36248543;C/G missense_variant False DOP1B@p.S1132Y 1 0.24137931 ENSG00000142197 chr21:36245375-36245375;C/A missense_variant False DOP1B@p.R1697T 1 0.076923077 ENSG00000142197 chr21:36251253-36251253;G/C missense_variant False DOP1B@p.Q1730H 1 0.542372881 ENSG00000142197 chr21:36253840-36253840;G/C missense_variant False DOT1L@p.M206I 1 0.287878788 ENSG00000104885 chr19:2194544-2194544;G/A missense_variant False DOT1L@p.M417I 1 0.119047619 ENSG00000104885 chr19:2210755-2210755;G/A missense_variant False DOT1L@p.M55V 1 0.237659963 ENSG00000104885 chr19:2185892-2185892;A/G missense_variant False DOT1L@p.P1105L 1 0.291666667 ENSG00000104885 chr19:2222483-2222483;C/T missense_variant False DOT1L@p.P247S 1 0.11627907 ENSG00000104885 chr19:2202731-2202731;C/T missense_variant False DOT1L@p.R256W 1 0.194029851 ENSG00000104885 chr19:2202758-2202758;C/T missense_variant False DOT1L@p.R282K 1 0.105769231 ENSG00000104885 chr19:2206786-2206786;G/A missense_variant False DOT1L@p.S1512C 1 0.4 ENSG00000104885 chr19:2227056-2227056;C/G missense_variant False DOT1L@p.Y115N 1 0.541666667 ENSG00000104885 chr19:2191090-2191090;T/A missense_variant False DPAGT1@p.D116Y 1 0.196078431 ENSG00000172269 chr11:119100780-119100780;C/A missense_variant False DPAGT1@p.F249S 1 0.470588235 ENSG00000172269 chr11:119098026-119098026;A/G missense_variant False DPAGT1@p.G192V 1 0.278145695 ENSG00000172269 chr11:119100330-119100330;C/A missense_variant False DPAGT1@p.G63S 1 0.222222222 ENSG00000172269 chr11:119101113-119101113;C/T missense_variant False DPAGT1@p.S317C 1 0.097297297 ENSG00000172269 chr11:119097520-119097520;T/A missense_variant False DPEP1@p.R130L 1 0.263157895 ENSG00000015413 chr16:89636551-89636551;G/T missense_variant False DPEP2@p.R123K 1 0.386666667 ENSG00000167261 chr16:67992532-67992532;C/T missense_variant False DPEP3@p.A36T 1 0.384615385 ENSG00000141096 chr16:67980275-67980275;C/T missense_variant False DOP1B@p.Q1473H 1 0.195121951 ENSG00000142197 chr21:36246399-36246399;G/C missense_variant False DOP1B@p.L1613F 1 0.278688525 ENSG00000142197 chr21:36248409-36248409;G/C missense_variant False DOLPP1@p.S8W 1 0.109489051 ENSG00000167130 chr9:129081154-129081154;C/G missense_variant False DOP1A@p.G1243E 1 0.486486486 ENSG00000083097 chr6:83137770-83137770;G/A missense_variant False DOP1A@p.R1870K 1 0.47826087 ENSG00000083097 chr6:83145591-83145591;G/A missense_variant False DOP1A@p.Q69K 1 0.452488688 ENSG00000083097 chr6:83100771-83100771;C/A missense_variant False DOP1A@p.P582T 1 0.125 ENSG00000083097 chr6:83128911-83128911;C/A missense_variant False DOP1A@p.P1913L 1 0.219512195 ENSG00000083097 chr6:83148764-83148764;C/T missense_variant False DOP1A@p.L1948M 1 0.130434783 ENSG00000083097 chr6:83151597-83151597;C/A missense_variant False DOP1A@p.L113V 1 0.302083333 ENSG00000083097 chr6:83108926-83108926;C/G missense_variant False DOP1A@p.E895Q 1 0.12195122 ENSG00000083097 chr6:83132242-83132242;G/C missense_variant False DOP1B@p.I1353N 1 0.506024096 ENSG00000142197 chr21:36246038-36246038;T/A missense_variant False DOP1A@p.E1836K 1 0.05511811 ENSG00000083097 chr6:83142011-83142011;G/A missense_variant False DOP1A@p.E1454Q 1 0.415929204 ENSG00000083097 chr6:83138402-83138402;G/C missense_variant False DOP1A@p.D1691H 1 0.433333333 ENSG00000083097 chr6:83139113-83139113;G/C missense_variant False DONSON@p.L327V 1 0.553191489 ENSG00000159147 chr21:33582232-33582232;G/C missense_variant False DONSON@p.E182K 1 0.153846154 ENSG00000159147 chr21:33586040-33586040;C/T missense_variant False DONSON@p.D251H 1 0.1875 ENSG00000159147 chr21:33584624-33584624;C/G missense_variant False DOP1A@p.R488T 1 0.097560976 ENSG00000083097 chr6:83125173-83125173;G/C missense_variant False DOP1A@p.R953H 1 0.529411765 ENSG00000083097 chr6:83134275-83134275;G/A missense_variant False DOP1A@p.S519N 1 0.358381503 ENSG00000083097 chr6:83125570-83125570;G/A missense_variant False DOP1A@p.S633C 1 0.205555556 ENSG00000083097 chr6:83129064-83129064;A/T missense_variant False DOP1A@p.S950F 1 0.350649351 ENSG00000083097 chr6:83134266-83134266;C/T missense_variant False DOP1A@p.S972F 1 0.072072072 ENSG00000083097 chr6:83135663-83135663;C/T missense_variant False DOP1B@p.A1689S 1 0.067567568 ENSG00000142197 chr21:36251228-36251228;G/T missense_variant False DOP1B@p.D1105H 1 0.179104478 ENSG00000142197 chr21:36245293-36245293;G/C missense_variant False DOP1B@p.D2221H 1 0.37804878 ENSG00000142197 chr21:36293335-36293335;G/C missense_variant False DOP1B@p.D2263N 1 0.263888889 ENSG00000142197 chr21:36293461-36293461;G/A missense_variant False DOP1B@p.D2276H 1 0.305084746 ENSG00000142197 chr21:36293500-36293500;G/C missense_variant False DOP1B@p.E1420K 1 0.1 ENSG00000142197 chr21:36246238-36246238;G/A missense_variant False DOP1B@p.E22K 1 0.238095238 ENSG00000142197 chr21:36164797-36164797;G/A missense_variant False DOP1B@p.E587Q 1 0.180232558 ENSG00000142197 chr21:36230543-36230543;G/C missense_variant False DOP1B@p.E612Q 1 0.166666667 ENSG00000142197 chr21:36230618-36230618;G/C missense_variant False DOP1B@p.F700L 1 0.1 ENSG00000142197 chr21:36230884-36230884;C/G missense_variant False DOP1B@p.G1514S 1 0.179775281 ENSG00000142197 chr21:36246520-36246520;G/A missense_variant False DOCK5@p.S1834C 1 0.355555556 ENSG00000147459 chr8:25410195-25410195;C/G missense_variant False DOCK5@p.S1766N 1 0.448275862 ENSG00000147459 chr8:25408833-25408833;G/A missense_variant False DOCK5@p.R103Q 1 0.592592593 ENSG00000147459 chr8:25278652-25278652;G/A missense_variant False DNMT3B@p.S270C 1 0.411764706 ENSG00000088305 chr20:32789008-32789008;C/G missense_variant False DNMT3L@p.D226N 1 0.320754717 ENSG00000142182 chr21:44254634-44254634;C/T missense_variant False DNMT3B@p.Y298F 1 0.1 ENSG00000088305 chr20:32791680-32791680;A/T missense_variant False DNMT3B@p.T510R 1 0.060240964 ENSG00000088305 chr20:32798498-32798498;C/G missense_variant False DNMT3B@p.T174A 1 0.331081081 ENSG00000088305 chr20:32787317-32787317;A/G missense_variant False DNMT3B@p.S780W 1 0.225806452 ENSG00000088305 chr20:32806246-32806246;C/G missense_variant False DNMT3B@p.S422L 1 0.636363636 ENSG00000088305 chr20:32795662-32795662;C/T missense_variant False DNMT3B@p.Q415K 1 0.093959732 ENSG00000088305 chr20:32795525-32795525;C/A missense_variant False DNMT3A@p.E863K 1 0.346153846 ENSG00000119772 chr2:25235717-25235717;C/T missense_variant True DNMT3B@p.K57N 1 0.172413793 ENSG00000088305 chr20:32781381-32781381;G/C missense_variant False DNMT3B@p.E483K 1 0.504854369 ENSG00000088305 chr20:32797256-32797256;G/A missense_variant False DNMT3A@p.T834N 1 0.416666667 ENSG00000119772 chr2:25235803-25235803;G/T missense_variant True DNMT3A@p.R309P 1 0.20754717 ENSG00000119772 chr2:25247679-25247679;C/G missense_variant True DNMT3A@p.M880I 1 0.329545455 ENSG00000119772 chr2:25234378-25234378;C/T missense_variant True DNMT3A@p.G890D 1 0.428571429 ENSG00000119772 chr2:25234349-25234349;C/T missense_variant True DNMT3L@p.E10Q 1 0.071428571 ENSG00000142182 chr21:44261232-44261232;C/G missense_variant False DNPEP@p.G320E 1 0.214285714 ENSG00000123992 chr2:219382117-219382117;C/T missense_variant False DNPH1@p.R139W 1 0.2 ENSG00000112667 chr6:43225843-43225843;G/A missense_variant False DNPH1@p.S128L 1 0.163636364 ENSG00000112667 chr6:43225875-43225875;G/A missense_variant False DNTT@p.C155R 1 0.209580838 ENSG00000107447 chr10:96319346-96319346;T/C missense_variant False DNTT@p.E109K 1 0.307692308 ENSG00000107447 chr10:96318473-96318473;G/A missense_variant False DNTT@p.S82L 1 0.144694534 ENSG00000107447 chr10:96318393-96318393;C/T missense_variant False DNTT@p.V240G 1 0.613333333 ENSG00000107447 chr10:96322697-96322697;T/G missense_variant False DNTT@p.V303M 1 0.273062731 ENSG00000107447 chr10:96327500-96327500;G/A missense_variant False DNTTIP1@p.D6N 1 0.581081081 ENSG00000101457 chr20:45792020-45792020;G/A missense_variant False DNTTIP1@p.K165E 1 0.151898734 ENSG00000101457 chr20:45801453-45801453;A/G missense_variant False DNTTIP1@p.M41I 1 0.328125 ENSG00000101457 chr20:45792694-45792694;G/A missense_variant False DNTTIP1@p.S217F 1 0.39380531 ENSG00000101457 chr20:45805192-45805192;C/T missense_variant False DNTTIP2@p.D173H 1 0.12037037 ENSG00000067334 chr1:93877418-93877418;C/G missense_variant False DNTTIP2@p.E254Q 1 0.132352941 ENSG00000067334 chr1:93877175-93877175;C/G missense_variant False DNTTIP2@p.E80Q 1 0.06 ENSG00000067334 chr1:93877697-93877697;C/G missense_variant False DNTTIP2@p.K68N 1 0.070588235 ENSG00000067334 chr1:93877731-93877731;C/G missense_variant False DNMT3A@p.G543V 1 0.563380282 ENSG00000119772 chr2:25244579-25244579;C/A missense_variant True DNMT3A@p.A760T 1 0.209677419 ENSG00000119772 chr2:25240346-25240346;C/T missense_variant True DNTTIP2@p.S97F 1 0.20754717 ENSG00000067334 chr1:93877645-93877645;G/A missense_variant False DNM2@p.S357F 1 0.062857143 ENSG00000079805 chr19:10793797-10793797;C/T missense_variant False DNMBP@p.G1212S 1 0.75 ENSG00000107554 chr10:99885851-99885851;C/T missense_variant False DNM3@p.S61L 1 0.47826087 ENSG00000197959 chr1:171921768-171921768;C/T missense_variant False DNM3@p.R98C 1 0.450292398 ENSG00000197959 chr1:171987712-171987712;C/T missense_variant False DNM3@p.K426N 1 0.043956044 ENSG00000197959 chr1:172048693-172048693;G/C missense_variant False DNM3@p.D321N 1 0.54787234 ENSG00000197959 chr1:172038430-172038430;G/A missense_variant False DNM2@p.S581F 1 0.226950355 ENSG00000079805 chr19:10820050-10820050;C/T missense_variant False DNM2@p.R453P 1 0.371428571 ENSG00000079805 chr19:10798508-10798508;G/C missense_variant False DNMT1@p.S84C 1 0.291666667 ENSG00000130816 chr19:10180544-10180544;G/C missense_variant True DNM2@p.I679M 1 0.108695652 ENSG00000079805 chr19:10825200-10825200;C/G missense_variant False DNM2@p.F372L 1 0.096153846 ENSG00000079805 chr19:10793841-10793841;T/C missense_variant False DNM2@p.E345K 1 0.227467811 ENSG00000079805 chr19:10793760-10793760;G/A missense_variant False DNM2@p.E102K 1 0.133333333 ENSG00000079805 chr19:10772547-10772547;G/A missense_variant False DNM2@p.D714Y 1 0.333333333 ENSG00000079805 chr19:10829117-10829117;G/T missense_variant False DNM2@p.D218_L220delinsE 1 0.280898876 ENSG00000079805 chr19:10777182-10777187;CGTCTT/- inframe_deletion False DNMBP@p.H680D 1 0.303030303 ENSG00000107554 chr10:99955436-99955436;G/C missense_variant False DNMBP@p.L447F 1 0.438356164 ENSG00000107554 chr10:99956135-99956135;G/A missense_variant False DNMBP@p.R1085C 1 0.418181818 ENSG00000107554 chr10:99888857-99888857;G/A missense_variant False DNMBP@p.R710T 1 0.155555556 ENSG00000107554 chr10:99955345-99955345;C/G missense_variant False DNMBP@p.R970Q 1 0.264705882 ENSG00000107554 chr10:99898097-99898097;C/T missense_variant False DNMBP@p.S483Y 1 0.382352941 ENSG00000107554 chr10:99956026-99956026;G/T missense_variant False DNMBP@p.T1395I 1 0.31147541 ENSG00000107554 chr10:99880175-99880175;G/A missense_variant False DNMT1@p.D470N 1 0.40625 ENSG00000130816 chr19:10155889-10155889;C/T missense_variant True DNMT1@p.F815L 1 0.054545455 ENSG00000130816 chr19:10149546-10149546;G/C missense_variant True DNMT1@p.H170D 1 0.155172414 ENSG00000130816 chr19:10177305-10177305;G/C missense_variant True DNMT1@p.H972Q 1 0.478070175 ENSG00000130816 chr19:10143918-10143918;G/C missense_variant True DNMT1@p.I1592M 1 0.23880597 ENSG00000130816 chr19:10134257-10134257;G/C missense_variant True DNMT1@p.I388M 1 0.225806452 ENSG00000130816 chr19:10159726-10159726;G/C missense_variant True DNMT1@p.L48V 1 0.1875 ENSG00000130816 chr19:10180861-10180861;G/C missense_variant True DNMT1@p.M1596K 1 0.26 ENSG00000130816 chr19:10134246-10134246;A/T missense_variant True DNMT1@p.Q181E 1 0.311111111 ENSG00000130816 chr19:10175599-10175599;G/C missense_variant True DNMT1@p.S189L 1 0.40625 ENSG00000130816 chr19:10175574-10175574;G/A missense_variant True DNTTIP2@p.Q228H 1 0.1875 ENSG00000067334 chr1:93877251-93877251;C/G missense_variant False DOC2A@p.E189K 1 0.225225225 ENSG00000149927 chr16:30007262-30007262;C/T missense_variant False DOCK5@p.I1318M 1 0.222222222 ENSG00000147459 chr8:25380322-25380322;C/G missense_variant False DOCK3@p.D1153E 1 0.357142857 ENSG00000088538 chr3:51330194-51330194;C/G missense_variant False DOCK3@p.R506H 1 0.441624365 ENSG00000088538 chr3:51227422-51227422;G/A missense_variant False DOCK3@p.L125Kfs*17 1 0.136690647 ENSG00000088538 chr3:51064505-51064509;CTGCG/- frameshift_variant False DOCK3@p.E1497D 1 0.242424242 ENSG00000088538 chr3:51356481-51356481;G/C missense_variant False DOCK3@p.D895N 1 0.5 ENSG00000088538 chr3:51277614-51277614;G/A missense_variant False DOCK3@p.D423N 1 0.295918367 ENSG00000088538 chr3:51225663-51225663;G/A missense_variant False DOCK3@p.D1414N 1 0.428571429 ENSG00000088538 chr3:51355014-51355014;G/A missense_variant False DOCK2@p.W127R 1 0.296296296 ENSG00000134516 chr5:169674354-169674354;T/C missense_variant False DOCK2@p.E1139K 1 0.231707317 ENSG00000134516 chr5:170027896-170027896;G/A missense_variant False DOCK2@p.R504K 1 0.323076923 ENSG00000134516 chr5:169711963-169711963;G/A missense_variant False DOCK2@p.R1364L 1 0.345454545 ENSG00000134516 chr5:170050275-170050275;G/T missense_variant False DOCK2@p.R1200C 1 0.275 ENSG00000134516 chr5:170034529-170034529;C/T missense_variant False DOCK2@p.M1512I 1 0.062015504 ENSG00000134516 chr5:170067578-170067578;G/T missense_variant False DOCK2@p.E1588K 1 0.268156425 ENSG00000134516 chr5:170075980-170075980;G/A missense_variant False DOCK2@p.E1496V 1 0.313432836 ENSG00000134516 chr5:170067529-170067529;A/T missense_variant False DOCK3@p.R813T 1 0.346153846 ENSG00000088538 chr3:51270897-51270897;G/C missense_variant False DOCK3@p.V841L 1 0.099630996 ENSG00000088538 chr3:51270980-51270980;G/T missense_variant False DOCK4@p.D1568H 1 0.325301205 ENSG00000128512 chr7:111742081-111742081;C/G missense_variant False DOCK4@p.E1173K 1 0.225490196 ENSG00000128512 chr7:111782905-111782905;C/T missense_variant False DOCK4@p.E1535K 1 0.323529412 ENSG00000128512 chr7:111746381-111746381;C/T missense_variant False DOCK4@p.E1732V 1 0.298245614 ENSG00000128512 chr7:111739144-111739144;T/A missense_variant False DOCK4@p.E513Q 1 0.303191489 ENSG00000128512 chr7:111895662-111895662;C/G missense_variant False DOCK4@p.E737K 1 0.181818182 ENSG00000128512 chr7:111868055-111868055;C/T missense_variant False DOCK4@p.E76Q 1 0.196581197 ENSG00000128512 chr7:111994224-111994224;C/G missense_variant False DOCK4@p.M1171I 1 0.286585366 ENSG00000128512 chr7:111782909-111782909;C/T missense_variant False DOCK4@p.N1669K 1 0.415357766 ENSG00000128512 chr7:111741100-111741100;G/T missense_variant False DOCK4@p.N1945T 1 0.1875 ENSG00000128512 chr7:111728341-111728341;T/G missense_variant False DOCK4@p.S1853Y 1 0.118421053 ENSG00000128512 chr7:111728617-111728617;G/T missense_variant False DOCK4@p.T1658A 1 0.19760479 ENSG00000128512 chr7:111741135-111741135;T/C missense_variant False DOCK4@p.T437A 1 0.20754717 ENSG00000128512 chr7:111901685-111901685;T/C missense_variant False DOCK4@p.T690I 1 0.189189189 ENSG00000128512 chr7:111869614-111869614;G/A missense_variant False DOCK5@p.E1648D 1 0.230769231 ENSG00000147459 chr8:25403575-25403575;G/C missense_variant False DOCK2@p.E1330K 1 0.265625 ENSG00000134516 chr5:170047531-170047531;G/A missense_variant False DOCK1@p.V1808M 1 0.347826087 ENSG00000150760 chr10:127447465-127447465;G/A missense_variant False DOC2A@p.E250Q 1 0.357142857 ENSG00000149927 chr16:30006915-30006915;C/G missense_variant False DOCK10@p.E1969K 1 0.571428571 ENSG00000135905 chr2:224775013-224775013;C/T missense_variant False DOCK10@p.R1445Q 1 0.222222222 ENSG00000135905 chr2:224801975-224801975;C/T missense_variant False DOCK10@p.R1315T 1 0.45 ENSG00000135905 chr2:224805313-224805313;C/G missense_variant False DOCK10@p.M454V 1 0.288135593 ENSG00000135905 chr2:224864985-224864985;T/C missense_variant False DOCK10@p.K146E 1 0.95 ENSG00000135905 chr2:224886512-224886512;T/C missense_variant False DOCK10@p.K1074N 1 0.25 ENSG00000135905 chr2:224819491-224819491;C/G missense_variant False DOCK10@p.I1929M 1 0.209302326 ENSG00000135905 chr2:224778153-224778153;G/C missense_variant False DOCK10@p.E1841Q 1 0.159090909 ENSG00000135905 chr2:224787295-224787295;C/G missense_variant False DOCK1@p.T444A 1 0.277372263 ENSG00000150760 chr10:127023265-127023265;A/G missense_variant False DOCK10@p.E1732K 1 0.131147541 ENSG00000135905 chr2:224793418-224793418;C/T missense_variant False DOCK10@p.D979G 1 0.253333333 ENSG00000135905 chr2:224834178-224834178;T/C missense_variant False DOCK10@p.D942Y 1 0.1875 ENSG00000135905 chr2:224837788-224837788;C/A missense_variant False DOC2A@p.R366L 1 0.452380952 ENSG00000149927 chr16:30006292-30006292;C/A missense_variant False DOC2A@p.R366G 1 0.34 ENSG00000149927 chr16:30006293-30006293;G/C missense_variant False DOC2A@p.Q205R 1 0.073529412 ENSG00000149927 chr16:30007213-30007213;T/C missense_variant False DOCK10@p.R352Q 1 0.947368421 ENSG00000135905 chr2:224874312-224874312;C/T missense_variant False DOCK10@p.S1366Y 1 0.238095238 ENSG00000135905 chr2:224805079-224805079;G/T missense_variant False DOCK10@p.W1702C 1 0.144329897 ENSG00000135905 chr2:224794927-224794927;C/G missense_variant False DOCK11@p.E1825K 1 0.175 ENSG00000147251 chrX:118680494-118680494;G/A missense_variant False DOCK11@p.E1999K 1 0.126436782 ENSG00000147251 chrX:118683110-118683110;G/A missense_variant False DOCK11@p.L1576F 1 0.329268293 ENSG00000147251 chrX:118654634-118654634;G/C missense_variant False DOCK11@p.M1590I 1 0.405797101 ENSG00000147251 chrX:118654676-118654676;G/A missense_variant False DOCK11@p.Q197Hfs*49 1 0.492753623 ENSG00000147251 chrX:118561414-118561414;A/- frameshift_variant False DOCK11@p.S1306L 1 0.37037037 ENSG00000147251 chrX:118636376-118636376;C/T missense_variant False DOCK11@p.S156L 1 0.252631579 ENSG00000147251 chrX:118546025-118546025;C/T missense_variant False DOCK11@p.V606M 1 0.338235294 ENSG00000147251 chrX:118588157-118588157;G/A missense_variant False DOCK1@p.A410T 1 0.25 ENSG00000150760 chr10:127018799-127018799;G/A missense_variant False DOCK1@p.E1433K 1 0.272727273 ENSG00000150760 chr10:127410856-127410856;G/A missense_variant False DOCK1@p.E308K 1 0.24 ENSG00000150760 chr10:127000244-127000244;G/A missense_variant False DOCK1@p.E398Q 1 0.166666667 ENSG00000150760 chr10:127018763-127018763;G/C missense_variant False DOCK1@p.Q300E 1 0.092592593 ENSG00000150760 chr10:127000220-127000220;C/G missense_variant False DOCK1@p.R1580K 1 0.168032787 ENSG00000150760 chr10:127425899-127425899;G/A missense_variant False DENND2B@p.G313R 1 0.102409639 ENSG00000166444 chr11:8730353-8730353;C/T missense_variant False DENND2A@p.S450F 1 0.275675676 ENSG00000146966 chr7:140573905-140573905;G/A missense_variant False CPEB1@p.R116Q 1 0.252336449 ENSG00000214575 chr15:82627216-82627216;C/T missense_variant False CTBP1@p.M75V 1 0.35106383 ENSG00000159692 chr4:1228316-1228316;T/C missense_variant False CTBS@p.D360H 1 0.180327869 ENSG00000117151 chr1:84555079-84555079;C/G missense_variant False CTBP2@p.R291P 1 0.333333333 ENSG00000175029 chr10:124993894-124993894;C/G missense_variant False CTBP2@p.I17F 1 0.169354839 ENSG00000175029 chr10:125039006-125039006;T/A missense_variant False CTBP2@p.G117S 1 0.382978723 ENSG00000175029 chr10:125002969-125002969;C/T missense_variant False CTBP2@p.E301Pfs*9 1 0.183908046 ENSG00000175029 chr10:124993865-124993868;CTGA/- frameshift_variant False CTBP2@p.E299Q 1 0.504587156 ENSG00000175029 chr10:124993871-124993871;C/G missense_variant False CTBP1@p.E272D 1 0.5 ENSG00000159692 chr4:1214420-1214420;C/G missense_variant False CTC1@p.E723K 1 0.615384615 ENSG00000178971 chr17:8232121-8232121;C/T missense_variant False CTAGE1@p.R44T 1 0.282608696 ENSG00000212710 chr18:22417681-22417681;C/G missense_variant False CTAGE1@p.Q168E 1 0.432098765 ENSG00000212710 chr18:22417310-22417310;G/C missense_variant False CTAGE1@p.K420T 1 0.238095238 ENSG00000212710 chr18:22416553-22416553;T/G missense_variant False CTAGE1@p.G685R 1 0.379310345 ENSG00000212710 chr18:22415759-22415759;C/T missense_variant False CTAGE1@p.F576C 1 0.536585366 ENSG00000212710 chr18:22416085-22416085;A/C missense_variant False CTAGE1@p.E79D 1 0.10130719 ENSG00000212710 chr18:22417575-22417575;C/G missense_variant False CTBS@p.D74H 1 0.197368421 ENSG00000117151 chr1:84570678-84570678;C/G missense_variant False CTC1@p.L621P 1 0.473684211 ENSG00000178971 chr17:8232989-8232989;A/G missense_variant False CTNND1@p.S571L 1 0.666666667 ENSG00000198561 chr11:57804770-57804770;C/T missense_variant False CTCF@p.S354Y 1 0.145833333 ENSG00000102974 chr16:67616853-67616853;C/A missense_variant False CTDP1@p.E363Q 1 0.276595745 ENSG00000060069 chr18:79714547-79714547;G/C missense_variant False CTDNEP1@p.V80F 1 0.142857143 ENSG00000175826 chr17:7247114-7247114;C/A missense_variant False CTDNEP1@p.T89M 1 0.152941176 ENSG00000175826 chr17:7247086-7247086;G/A missense_variant False CTCFL@p.D381H 1 0.612426036 ENSG00000124092 chr20:57515753-57515753;C/G missense_variant False CTCF@p.T346N 1 0.214285714 ENSG00000102974 chr16:67616829-67616829;C/A missense_variant False CTCF@p.S388N 1 0.289473684 ENSG00000102974 chr16:67620773-67620773;G/A missense_variant False CTCF@p.S354F 1 0.467661692 ENSG00000102974 chr16:67616853-67616853;C/T missense_variant False CTC1@p.R396Q 1 0.115384615 ENSG00000178971 chr17:8235850-8235850;C/T missense_variant False CTCF@p.K264N 1 0.524271845 ENSG00000102974 chr16:67611961-67611961;G/C missense_variant False CTCF@p.H322Y 1 0.371638142 ENSG00000102974 chr16:67616756-67616756;C/T missense_variant False CTCF@p.G375A 1 0.364485981 ENSG00000102974 chr16:67620734-67620734;G/C missense_variant False CTCF@p.F351L 1 0.180851064 ENSG00000102974 chr16:67616843-67616843;T/C missense_variant False CTCF@p.E145Q 1 0.495327103 ENSG00000102974 chr16:67611265-67611265;G/C missense_variant False CTCF@p.D290N 1 0.215384615 ENSG00000102974 chr16:67612037-67612037;G/A missense_variant False CTAGE1@p.E149V 1 0.095588235 ENSG00000212710 chr18:22417366-22417366;T/A missense_variant False CTAGE15@p.S417C 1 0.131782946 ENSG00000271079 chr7:143573067-143573067;C/G missense_variant False CT55@p.D95Y 1 0.318181818 ENSG00000169551 chrX:135160552-135160552;C/A missense_variant False CST8@p.A20T 1 0.34751773 ENSG00000125815 chr20:23491725-23491725;G/A missense_variant False CST9L@p.Y27C 1 0.351851852 ENSG00000101435 chr20:23568371-23568371;T/C missense_variant False CST9L@p.L47V 1 0.105263158 ENSG00000101435 chr20:23568312-23568312;G/C missense_variant False CST9L@p.C122Qfs*66 1 0.228070175 ENSG00000101435 chr20:23565016-23565029;TGGTGAAGAAGCAG/- frameshift_variant False CST8@p.S100T 1 0.115044248 ENSG00000125815 chr20:23493025-23493025;G/C missense_variant False CST8@p.P15T 1 0.060606061 ENSG00000125815 chr20:23491710-23491710;C/A missense_variant False CST8@p.N57K 1 0.246753247 ENSG00000125815 chr20:23491838-23491838;C/G missense_variant False CST8@p.A125V 1 0.194285714 ENSG00000125815 chr20:23495859-23495859;C/T missense_variant False CT47A6@p.E247K 1 0.288557214 ENSG00000226023 chrX:120960490-120960490;C/T missense_variant False CST7@p.L90P 1 0.21978022 ENSG00000077984 chr20:24958953-24958953;T/C missense_variant False CST6@p.G105V 1 0.346938776 ENSG00000175315 chr11:66012899-66012899;G/T missense_variant False CST5@p.P106S 1 0.21978022 ENSG00000170367 chr20:23877534-23877534;G/A missense_variant False CST4@p.R72Q 1 0.152542373 ENSG00000101441 chr20:23688755-23688755;C/T missense_variant False CST2@p.F120L 1 0.088888889 ENSG00000170369 chr20:23824088-23824088;A/G missense_variant False CST1@p.R130T 1 0.24137931 ENSG00000170373 chr20:23747853-23747853;C/G missense_variant False CSTA@p.D21N 1 0.138888889 ENSG00000121552 chr3:122325353-122325353;G/A missense_variant False CSTB@p.H75Y 1 0.16091954 ENSG00000160213 chr21:43774276-43774276;G/A missense_variant False CSTF1@p.Q237L 1 0.323170732 ENSG00000101138 chr20:56399031-56399031;A/T missense_variant False CSTF1@p.R11H 1 0.1125 ENSG00000101138 chr20:56395584-56395584;G/A missense_variant False CSTF2@p.E340Q 1 0.095238095 ENSG00000101811 chrX:100831643-100831643;G/C missense_variant False CSTF2@p.E342K 1 0.111111111 ENSG00000101811 chrX:100831649-100831649;G/A missense_variant False CSTF2@p.E431K 1 0.80952381 ENSG00000101811 chrX:100833263-100833263;G/A missense_variant False CSTF2T@p.E100del 1 0.153846154 ENSG00000177613 chr10:51699250-51699252;CTC/- inframe_deletion False CSTF2T@p.E379K 1 0.108333333 ENSG00000177613 chr10:51698415-51698415;C/T missense_variant False CSTF2T@p.E439Q 1 0.224719101 ENSG00000177613 chr10:51698235-51698235;C/G missense_variant False CSTF2T@p.F61L 1 0.2109375 ENSG00000177613 chr10:51699367-51699367;G/T missense_variant False CSTF2T@p.P24S 1 0.610294118 ENSG00000177613 chr10:51699480-51699480;G/A missense_variant False CSTF3@p.G441V 1 0.119047619 ENSG00000176102 chr11:33096359-33096359;C/A missense_variant False CSTF3@p.S455P 1 0.408163265 ENSG00000176102 chr11:33096318-33096318;A/G missense_variant False CSTL1@p.H24D 1 0.533333333 ENSG00000125823 chr20:23440337-23440337;C/G missense_variant False CSTL1@p.K85N 1 0.14893617 ENSG00000125823 chr20:23443969-23443969;G/C missense_variant False CT45A1@p.R175Q 1 0.375 ENSG00000269096 chrX:135722987-135722987;G/A missense_variant False CTDP1@p.Q417P 1 0.583333333 ENSG00000060069 chr18:79714710-79714710;A/C missense_variant False CTDSP1@p.A53T 1 0.197530864 ENSG00000144579 chr2:218401653-218401653;G/A missense_variant False CTDSP1@p.D50N 1 0.310344828 ENSG00000144579 chr2:218401644-218401644;G/A missense_variant False CTNNA3@p.S597T 1 0.357142857 ENSG00000183230 chr10:66280565-66280565;A/T missense_variant False CTNNB1@p.D32H 1 0.181818182 ENSG00000168036 chr3:41224606-41224606;G/C missense_variant True CTNNB1@p.A197S 1 0.185185185 ENSG00000168036 chr3:41225427-41225427;G/T missense_variant True CTNNAL1@p.S319F 1 0.644444444 ENSG00000119326 chr9:108979426-108979426;G/A missense_variant False CTNNAL1@p.L231F 1 0.238993711 ENSG00000119326 chr9:108984385-108984385;G/A missense_variant False CTNNAL1@p.I325M 1 0.591836735 ENSG00000119326 chr9:108979407-108979407;G/C missense_variant False CTNNAL1@p.E323K 1 0.78 ENSG00000119326 chr9:108979415-108979415;C/T missense_variant False CTNNA3@p.Q751H 1 0.155555556 ENSG00000183230 chr10:65988704-65988704;C/G missense_variant False CTNNA2@p.V420D 1 0.337209302 ENSG00000066032 chr2:80419570-80419570;T/A missense_variant False CTNNA3@p.P457S 1 0.324324324 ENSG00000183230 chr10:66621697-66621697;G/A missense_variant False CTNNA3@p.M713I 1 0.288590604 ENSG00000183230 chr10:66069328-66069328;C/A missense_variant False CTNNA3@p.E690Q 1 0.181818182 ENSG00000183230 chr10:66069399-66069399;C/G missense_variant False CTNNA3@p.E667K 1 0.155555556 ENSG00000183230 chr10:66069468-66069468;C/T missense_variant False CTNNA3@p.E480K 1 0.1 ENSG00000183230 chr10:66520710-66520710;C/T missense_variant False CTNNA2@p.Y894C 1 0.453781513 ENSG00000066032 chr2:80647691-80647691;A/G missense_variant False CTNNB1@p.D699H 1 0.272189349 ENSG00000168036 chr3:41238034-41238034;G/C missense_variant True CTNNB1@p.F683Y 1 0.06779661 ENSG00000168036 chr3:41236681-41236681;T/A missense_variant True CTNNB1@p.P597S 1 0.479452055 ENSG00000168036 chr3:41235829-41235829;C/T missense_variant True CTNNB1@p.S352N 1 0.148148148 ENSG00000168036 chr3:41227326-41227326;G/A missense_variant True CTNNB1@p.S37F 1 0.333333333 ENSG00000168036 chr3:41224622-41224622;C/T missense_variant True CTNNB1@p.S45F 1 0.379310345 ENSG00000168036 chr3:41224646-41224646;C/T missense_variant True CTNNB1@p.S60F 1 0.565217391 ENSG00000168036 chr3:41224691-41224691;C/T missense_variant True CTNNB1@p.T41A 1 0.442307692 ENSG00000168036 chr3:41224633-41224633;A/G missense_variant True CTNNBL1@p.D375H 1 0.225225225 ENSG00000132792 chr20:37802958-37802958;G/C missense_variant False CTNNBL1@p.E432K 1 0.238095238 ENSG00000132792 chr20:37840182-37840182;G/A missense_variant False CTNNBL1@p.G397E 1 0.289473684 ENSG00000132792 chr20:37803025-37803025;G/A missense_variant False CTNNBL1@p.K458N 1 0.466666667 ENSG00000132792 chr20:37842401-37842401;G/C missense_variant False CTNNBL1@p.M309I 1 0.139534884 ENSG00000132792 chr20:37779231-37779231;G/A missense_variant False CTNND1@p.D293N 1 0.195876289 ENSG00000198561 chr11:57796913-57796913;G/A missense_variant False CTNND1@p.L497Cfs*13 1 0.451612903 ENSG00000198561 chr11:57803690-57803700;TGACAGATGAA/- frameshift_variant False CTNND1@p.L759Rfs*12 1 0.264957265 ENSG00000198561 chr11:57809305-57809309;TCTGC/- frameshift_variant False CTNND1@p.L944V 1 0.461538462 ENSG00000198561 chr11:57815936-57815936;C/G missense_variant False CTNNA2@p.V795L 1 0.083333333 ENSG00000066032 chr2:80608271-80608271;G/C missense_variant False CTNNA2@p.T236M 1 0.434782609 ENSG00000066032 chr2:79874197-79874197;C/T missense_variant False CTDSP2@p.E253K 1 0.4 ENSG00000175215 chr12:57823661-57823661;C/T missense_variant False CTH@p.E383Q 1 0.401960784 ENSG00000116761 chr1:70438782-70438782;G/C missense_variant False CTIF@p.R508G 1 0.213675214 ENSG00000134030 chr18:48817371-48817371;A/G missense_variant False CTIF@p.Q369H 1 0.111111111 ENSG00000134030 chr18:48761425-48761425;G/C missense_variant False CTIF@p.A431T 1 0.257668712 ENSG00000134030 chr18:48761609-48761609;G/A missense_variant False CTHRC1@p.A174S 1 0.284210526 ENSG00000164932 chr8:103378174-103378174;G/T missense_variant False CTH@p.R237C 1 0.290909091 ENSG00000116761 chr1:70430379-70430379;C/T missense_variant False CTH@p.G244V 1 0.278688525 ENSG00000116761 chr1:70432089-70432089;G/T missense_variant False CTH@p.E326K 1 0.17721519 ENSG00000116761 chr1:70433926-70433926;G/A missense_variant False CTNNA2@p.S505L 1 1.0 ENSG00000066032 chr2:80546037-80546037;C/T missense_variant False CTF1@p.S18L 1 0.236220472 ENSG00000150281 chr16:30899442-30899442;C/T missense_variant False CTDSPL@p.E258Q 1 0.18 ENSG00000144677 chr3:37980808-37980808;G/C missense_variant False CTDSPL2@p.S153L 1 0.225225225 ENSG00000137770 chr15:44486683-44486683;C/T missense_variant False CTDSPL2@p.E377K 1 0.162790698 ENSG00000137770 chr15:44519185-44519185;G/A missense_variant False CTDSPL2@p.D79Y 1 0.261904762 ENSG00000137770 chr15:44484272-44484272;G/T missense_variant False CTDSPL2@p.D461N 1 0.356060606 ENSG00000137770 chr15:44524154-44524154;G/A missense_variant False CTLA4@p.S49N 1 0.384615385 ENSG00000163599 chr2:203870622-203870622;G/A missense_variant False CTNNA1@p.F111L 1 0.230769231 ENSG00000044115 chr5:138810067-138810067;T/C missense_variant False CTNNA1@p.P855A 1 0.078125 ENSG00000044115 chr5:138933931-138933931;C/G missense_variant False CTNNA1@p.S268L 1 0.231958763 ENSG00000044115 chr5:138824744-138824744;C/T missense_variant False CTNNA2@p.A111T 1 0.156378601 ENSG00000066032 chr2:79858045-79858045;G/A missense_variant False CTNNA2@p.A278V 1 0.434782609 ENSG00000066032 chr2:79874323-79874323;C/T missense_variant False CTNNA2@p.A466V 1 0.6 ENSG00000066032 chr2:80545920-80545920;C/T missense_variant False CTNNA2@p.E442K 1 0.233333333 ENSG00000066032 chr2:80545015-80545015;G/A missense_variant False CTNNA2@p.I791N 1 0.4 ENSG00000066032 chr2:80608260-80608260;T/A missense_variant False CTNNA2@p.K736N 1 0.508196721 ENSG00000066032 chr2:80604092-80604092;A/C missense_variant False CTNNA2@p.M755I 1 0.209302326 ENSG00000066032 chr2:80604149-80604149;G/A missense_variant False CTNNA2@p.N433D 1 0.25 ENSG00000066032 chr2:80544988-80544988;A/G missense_variant False CTNNA2@p.P14H 1 0.419753086 ENSG00000066032 chr2:79651597-79651597;C/A missense_variant False CTNNA2@p.Q419H 1 0.081632653 ENSG00000066032 chr2:80419568-80419568;A/C missense_variant False CTNNA2@p.R192K 1 0.091743119 ENSG00000066032 chr2:79869925-79869925;G/A missense_variant False CTNNA2@p.R210L 1 0.160714286 ENSG00000066032 chr2:79874119-79874119;G/T missense_variant False CTNNA2@p.R449Q 1 0.543859649 ENSG00000066032 chr2:80545037-80545037;G/A missense_variant False CST1@p.D61Y 1 0.271028037 ENSG00000170373 chr20:23750686-23750686;C/A missense_variant False CST1@p.D61H 1 0.330578512 ENSG00000170373 chr20:23750686-23750686;C/G missense_variant False CST11@p.T52I 1 0.15 ENSG00000125831 chr20:23452657-23452657;G/A missense_variant False CSMD3@p.S2188C 1 0.175572519 ENSG00000164796 chr8:112341566-112341566;G/C missense_variant False CSMD3@p.S3351C 1 0.083333333 ENSG00000164796 chr8:112254311-112254311;G/C missense_variant False CSMD3@p.S3314L 1 0.091743119 ENSG00000164796 chr8:112255349-112255349;G/A missense_variant False CSMD3@p.S3240C 1 0.113402062 ENSG00000164796 chr8:112263782-112263782;G/C missense_variant False CSMD3@p.S2533L 1 0.369565217 ENSG00000164796 chr8:112314004-112314004;G/A missense_variant False CSMD3@p.S227T 1 0.224669604 ENSG00000164796 chr8:113173752-113173752;A/T missense_variant False CSMD3@p.S227L 1 0.234513274 ENSG00000164796 chr8:113173751-113173751;G/A missense_variant False CSMD3@p.S2116P 1 0.262295082 ENSG00000164796 chr8:112346193-112346193;A/G missense_variant False CSMD3@p.P1609A 1 0.390243902 ENSG00000164796 chr8:112506761-112506761;G/C missense_variant False CSMD3@p.S1757C 1 0.16091954 ENSG00000164796 chr8:112492498-112492498;T/A missense_variant False CSMD3@p.S149Y 1 0.337837838 ENSG00000164796 chr8:113278660-113278660;G/T missense_variant False CSMD3@p.R389K 1 0.320261438 ENSG00000164796 chr8:112976013-112976013;C/T missense_variant False CSMD3@p.R2231Q 1 0.538461538 ENSG00000164796 chr8:112337692-112337692;C/T missense_variant False CSMD3@p.Q2185E 1 0.246153846 ENSG00000164796 chr8:112341576-112341576;G/C missense_variant False CSMD3@p.P837S 1 0.080645161 ENSG00000164796 chr8:112682610-112682610;G/A missense_variant False CSMD3@p.S380P 1 0.138888889 ENSG00000164796 chr8:112976041-112976041;A/G missense_variant False CSMD3@p.S634I 1 0.424657534 ENSG00000164796 chr8:112800233-112800233;C/A missense_variant False CSMD3@p.T2174N 1 0.067307692 ENSG00000164796 chr8:112341608-112341608;G/T missense_variant False CSMD3@p.T2193A 1 0.35 ENSG00000164796 chr8:112341552-112341552;T/C missense_variant False CSMD3@p.T3077S 1 0.062937063 ENSG00000164796 chr8:112287166-112287166;T/A missense_variant False CSMD3@p.T3684N 1 0.159793814 ENSG00000164796 chr8:112224844-112224844;G/T missense_variant False CSMD3@p.V1550I 1 0.102040816 ENSG00000164796 chr8:112517142-112517142;C/T missense_variant False CSMD3@p.V3313F 1 0.214285714 ENSG00000164796 chr8:112255353-112255353;C/A missense_variant False CSN1S1@p.R26S 1 0.185185185 ENSG00000126545 chr4:69934236-69934236;C/A missense_variant False CSN2@p.R113K 1 0.444444444 ENSG00000135222 chr4:69957611-69957611;C/T missense_variant False CSN3@p.G59R 1 0.234693878 ENSG00000171209 chr4:70249085-70249085;G/C missense_variant False CSN3@p.P100T 1 0.323529412 ENSG00000171209 chr4:70249208-70249208;C/A missense_variant False CSN3@p.T60N 1 0.377777778 ENSG00000171209 chr4:70249089-70249089;C/A missense_variant False CSNK1A1@p.D84N 1 0.285714286 ENSG00000113712 chr5:149525152-149525152;C/T missense_variant False CSNK1A1@p.I31N 1 0.440789474 ENSG00000113712 chr5:149550873-149550873;A/T missense_variant False CSNK1A1@p.N289K 1 0.14957265 ENSG00000113712 chr5:149505586-149505586;G/C missense_variant False CSNK1A1@p.R53Sfs*36 1 0.148648649 ENSG00000113712 chr5:149550146-149550146;C/- frameshift_variant False CSMD3@p.P667L 1 0.180851064 ENSG00000164796 chr8:112690023-112690023;G/A missense_variant False CSMD3@p.P1255A 1 0.060344828 ENSG00000164796 chr8:112587188-112587188;G/C missense_variant False CSNK1A1L@p.D140H 1 0.340909091 ENSG00000180138 chr13:37104839-37104839;C/G missense_variant False CSMD3@p.E2441K 1 0.25 ENSG00000164796 chr8:112318876-112318876;C/T missense_variant False CSMD3@p.G549S 1 0.25862069 ENSG00000164796 chr8:112859255-112859255;C/T missense_variant False CSMD3@p.G2876C 1 0.120689655 ENSG00000164796 chr8:112292699-112292699;C/A missense_variant False CSMD3@p.G1887R 1 0.524752475 ENSG00000164796 chr8:112406674-112406674;C/T missense_variant False CSMD3@p.G1714Afs*6 1 0.166666667 ENSG00000164796 chr8:112492625-112492626;TC/G frameshift_variant False CSMD3@p.F533I 1 0.394736842 ENSG00000164796 chr8:112921663-112921663;A/T missense_variant False CSMD3@p.E2761K 1 0.479166667 ENSG00000164796 chr8:112301952-112301952;C/T missense_variant False CSMD3@p.E2280K 1 0.421875 ENSG00000164796 chr8:112337546-112337546;C/T missense_variant False CSMD3@p.P1143S 1 0.161616162 ENSG00000164796 chr8:112638795-112638795;G/A missense_variant False CSMD3@p.D988N 1 0.344827586 ENSG00000164796 chr8:112656196-112656196;C/T missense_variant False CSMD3@p.D376N 1 0.588235294 ENSG00000164796 chr8:112976053-112976053;C/T missense_variant False CSMD3@p.D3058N 1 0.105263158 ENSG00000164796 chr8:112287223-112287223;C/T missense_variant False CSMD3@p.D2301G 1 0.32038835 ENSG00000164796 chr8:112336769-112336769;T/C missense_variant False CSMD3@p.D211N 1 0.098039216 ENSG00000164796 chr8:113173800-113173800;C/T missense_variant False CSMD3@p.D1960E 1 0.097560976 ENSG00000164796 chr8:112390718-112390718;G/C missense_variant False CSMD3@p.G648E 1 0.293103448 ENSG00000164796 chr8:112800191-112800191;C/T missense_variant False CSMD3@p.G665S 1 0.054263566 ENSG00000164796 chr8:112690030-112690030;C/T missense_variant False CSMD3@p.H3430D 1 0.488372093 ENSG00000164796 chr8:112244508-112244508;G/C missense_variant False CSMD3@p.H805Y 1 0.231788079 ENSG00000164796 chr8:112685475-112685475;G/A missense_variant False CSMD3@p.I2106V 1 0.156521739 ENSG00000164796 chr8:112351184-112351184;T/C missense_variant False CSMD3@p.I2141L 1 0.210300429 ENSG00000164796 chr8:112346118-112346118;T/G missense_variant False CSMD3@p.I998F 1 0.174418605 ENSG00000164796 chr8:112656166-112656166;T/A missense_variant False CSMD3@p.K167N 1 0.107142857 ENSG00000164796 chr8:113278605-113278605;C/A missense_variant False CSMD3@p.K2718T 1 0.151898734 ENSG00000164796 chr8:112304834-112304834;T/G missense_variant False CSMD3@p.K2T 1 0.304347826 ENSG00000164796 chr8:113436850-113436850;T/G missense_variant False CSMD3@p.L2370I 1 0.470588235 ENSG00000164796 chr8:112335386-112335386;G/T missense_variant False CSMD3@p.L2664F 1 0.243243243 ENSG00000164796 chr8:112306086-112306086;C/A missense_variant False CSMD3@p.L2800I 1 0.430769231 ENSG00000164796 chr8:112301835-112301835;G/T missense_variant False CSMD3@p.L2906F 1 0.235294118 ENSG00000164796 chr8:112292609-112292609;G/A missense_variant False CSMD3@p.L3558F 1 0.355670103 ENSG00000164796 chr8:112234433-112234433;G/A missense_variant False CSMD3@p.M35I 1 0.3671875 ENSG00000164796 chr8:113436750-113436750;C/T missense_variant False CSMD3@p.M878R 1 0.317204301 ENSG00000164796 chr8:112682486-112682486;A/C missense_variant False CSNK1A1@p.S61R 1 0.081632653 ENSG00000113712 chr5:149550122-149550122;G/T missense_variant False CSNK1A1L@p.E269Q 1 0.264516129 ENSG00000180138 chr13:37104452-37104452;C/G missense_variant False CSRP3@p.W140C 1 0.166666667 ENSG00000129170 chr11:19185040-19185040;C/G missense_variant False CSPG5@p.E534Q 1 0.13368984 ENSG00000114646 chr3:47562701-47562701;C/G missense_variant False CSPP1@p.L82M 1 0.204545455 ENSG00000104218 chr8:67074265-67074265;T/A missense_variant False CSPP1@p.L539V 1 0.213414634 ENSG00000104218 chr8:67118258-67118258;C/G missense_variant False CSPP1@p.E717K 1 0.607361963 ENSG00000104218 chr8:67149848-67149848;G/A missense_variant False CSPP1@p.E288K 1 0.253968254 ENSG00000104218 chr8:67095521-67095521;G/A missense_variant False CSPP1@p.E1241K 1 0.751552795 ENSG00000104218 chr8:67195525-67195525;G/A missense_variant False CSPP1@p.A285S 1 0.442307692 ENSG00000104218 chr8:67095512-67095512;G/T missense_variant False CSPG5@p.E481K 1 0.346153846 ENSG00000114646 chr3:47569169-47569169;C/T missense_variant False CSPG4@p.P238S 1 0.25 ENSG00000173546 chr15:75690353-75690353;G/A missense_variant False CSPG5@p.D159Gfs*44 1 0.611940299 ENSG00000114646 chr3:47577531-47577552;AGAAGCTGGGCTCAGCTTGTCG/CC frameshift_variant False CSPG4@p.T653Rfs*2 1 0.534883721 ENSG00000173546 chr15:75689109-75689109;G/- frameshift_variant False CSPG4@p.T569M 1 0.151515152 ENSG00000173546 chr15:75689359-75689359;G/A missense_variant False CSPG4@p.S1309A 1 0.4375 ENSG00000173546 chr15:75685566-75685566;A/C missense_variant False CSPG4@p.S1277L 1 0.333333333 ENSG00000173546 chr15:75685661-75685661;G/A missense_variant False CSPG4@p.S1067N 1 0.128571429 ENSG00000173546 chr15:75687865-75687865;C/T missense_variant False CSPP1@p.Q812H 1 0.2 ENSG00000104218 chr8:67158533-67158533;G/C missense_variant False CSPP1@p.W677C 1 0.34375 ENSG00000104218 chr8:67137551-67137551;G/T missense_variant False CSRNP1@p.E456K 1 0.375 ENSG00000144655 chr3:39143459-39143459;C/T missense_variant False CSRNP1@p.S560C 1 0.140495868 ENSG00000144655 chr3:39143146-39143146;G/C missense_variant False CSRNP2@p.A205G 1 0.085714286 ENSG00000110925 chr12:51067767-51067767;G/C missense_variant False CSRNP2@p.R62W 1 0.225352113 ENSG00000110925 chr12:51074050-51074050;G/A missense_variant False CSRNP3@p.E376Q 1 0.309090909 ENSG00000178662 chr2:165679121-165679121;G/C missense_variant False CSRNP3@p.E486Q 1 0.138888889 ENSG00000178662 chr2:165679451-165679451;G/C missense_variant False CSRNP3@p.E521K 1 0.096153846 ENSG00000178662 chr2:165679556-165679556;G/A missense_variant False CSRNP3@p.L410I 1 0.379746835 ENSG00000178662 chr2:165679223-165679223;C/A missense_variant False CSRNP3@p.R122T 1 0.1 ENSG00000178662 chr2:165657977-165657977;G/C missense_variant False CSRNP3@p.S52C 1 0.276595745 ENSG00000178662 chr2:165657767-165657767;C/G missense_variant False CSRNP3@p.V101L 1 0.294117647 ENSG00000178662 chr2:165657913-165657913;G/T missense_variant False CSRP1@p.E54K 1 0.231707317 ENSG00000159176 chr1:201490297-201490297;C/T missense_variant False CSRP2@p.A116D 1 0.28 ENSG00000175183 chr12:76860348-76860348;G/T missense_variant False CSRP2@p.N142S 1 0.148148148 ENSG00000175183 chr12:76859627-76859627;T/C missense_variant False CSRP3@p.H141N 1 0.166666667 ENSG00000129170 chr11:19185039-19185039;G/T missense_variant False CSPG4@p.R1243W 1 0.12 ENSG00000173546 chr15:75687338-75687338;G/A missense_variant False CSPG4@p.G1887D 1 0.777777778 ENSG00000173546 chr15:75676859-75676859;C/T missense_variant False CSNK1D@p.E226K 1 0.224 ENSG00000141551 chr17:82252494-82252494;C/T missense_variant False CSNK1G1@p.S5G 1 0.255813953 ENSG00000169118 chr15:64300487-64300487;T/C missense_variant False CSNK1G3@p.F89L 1 0.428571429 ENSG00000151292 chr5:123557542-123557542;C/G missense_variant False CSNK1G2@p.R413Q 1 0.166666667 ENSG00000133275 chr19:1980193-1980193;G/A missense_variant False CSNK1G2@p.L308P 1 0.14893617 ENSG00000133275 chr19:1979564-1979564;T/C missense_variant False CSNK1G2@p.I187M 1 0.288888889 ENSG00000133275 chr19:1978972-1978972;C/G missense_variant False CSNK1G2@p.H87Y 1 0.263157895 ENSG00000133275 chr19:1978472-1978472;C/T missense_variant False CSNK1G1@p.T135I 1 0.452830189 ENSG00000169118 chr15:64216602-64216602;G/A missense_variant False CSNK1G1@p.S150F 1 0.380434783 ENSG00000169118 chr15:64214120-64214120;G/A missense_variant False CSPG4@p.E993K 1 0.088607595 ENSG00000173546 chr15:75688088-75688088;C/T missense_variant False CSNK1G1@p.R206G 1 0.1 ENSG00000169118 chr15:64213953-64213953;T/C missense_variant False CSNK1E@p.S389F 1 0.411764706 ENSG00000283900 chr22:38294161-38294161;G/A missense_variant False CSNK1E@p.L138Gfs*51 1 0.44 ENSG00000283900 chr22:38300877-38300878;GC/- frameshift_variant False CSNK1E@p.D110N 1 0.2 ENSG00000283900 chr22:38302869-38302869;C/T missense_variant False CSNK1D@p.R192Q 1 0.195121951 ENSG00000141551 chr17:82252595-82252595;C/T missense_variant False CSNK1D@p.G21A 1 0.157894737 ENSG00000141551 chr17:82273320-82273320;C/G missense_variant False CSNK2A1@p.D175H 1 0.510204082 ENSG00000101266 chr20:492352-492352;C/G missense_variant False CSNK2A1@p.D214Y 1 0.278481013 ENSG00000101266 chr20:489863-489863;C/A missense_variant False CSNK2A1@p.E81Q 1 0.058823529 ENSG00000101266 chr20:499907-499907;C/G missense_variant False CSNK2A1@p.F113V 1 0.513888889 ENSG00000101266 chr20:499284-499284;A/C missense_variant False CSNK2A1@p.I226M 1 0.127272727 ENSG00000101266 chr20:489825-489825;G/C missense_variant False CSNK2A1@p.I272M 1 0.179104478 ENSG00000101266 chr20:488686-488686;G/C missense_variant False CSNK2A1@p.I84Mfs*4 1 0.387640449 ENSG00000101266 chr20:499893-499896;CAAA/- frameshift_variant False CSNK2A1@p.N270S 1 0.595238095 ENSG00000101266 chr20:488693-488693;T/C missense_variant False CSNK2A1@p.P267A 1 0.428571429 ENSG00000101266 chr20:488703-488703;G/C missense_variant False CSNK2A1@p.R155T 1 0.194690265 ENSG00000101266 chr20:495765-495765;C/G missense_variant False CSNK2A1@p.R47Q 1 0.379310345 ENSG00000101266 chr20:505191-505191;C/T missense_variant False CSPG4@p.D1923H 1 0.2 ENSG00000173546 chr15:75676752-75676752;C/G missense_variant False CSPG4@p.D1971N 1 0.107142857 ENSG00000173546 chr15:75676608-75676608;C/T missense_variant False CSPG4@p.E1427K 1 0.208333333 ENSG00000173546 chr15:75684906-75684906;C/T missense_variant False CSPG4@p.E2180K 1 0.185185185 ENSG00000173546 chr15:75675981-75675981;C/T missense_variant False CSPG4@p.E257Q 1 0.318181818 ENSG00000173546 chr15:75690296-75690296;C/G missense_variant False CSPG4@p.E93K 1 0.478873239 ENSG00000173546 chr15:75690788-75690788;C/T missense_variant False CTNND1@p.R364T 1 0.086206897 ENSG00000198561 chr11:57801867-57801867;G/C missense_variant False CTNND1@p.S670L 1 0.132075472 ENSG00000198561 chr11:57808210-57808210;C/T missense_variant False CSMD1@p.Y1509C 1 0.307692308 ENSG00000183117 chr8:3219404-3219404;T/C missense_variant False CUL9@p.F257L 1 0.22972973 ENSG00000112659 chr6:43185973-43185973;T/C missense_variant False CUL9@p.Q2435H 1 0.600823045 ENSG00000112659 chr6:43224115-43224115;G/C missense_variant False CUL9@p.P77L 1 0.070175439 ENSG00000112659 chr6:43184540-43184540;C/T missense_variant False CUL9@p.L2028F 1 0.225806452 ENSG00000112659 chr6:43216305-43216305;G/C missense_variant False CUL9@p.I2243M 1 0.416666667 ENSG00000112659 chr6:43221298-43221298;C/G missense_variant False CUL9@p.H2090Q 1 0.190839695 ENSG00000112659 chr6:43216491-43216491;C/G missense_variant False CUL9@p.G54R 1 0.211538462 ENSG00000112659 chr6:43184470-43184470;G/C missense_variant False CUL9@p.E844Q 1 0.130434783 ENSG00000112659 chr6:43196210-43196210;G/C missense_variant False CUL9@p.S1813L 1 0.148148148 ENSG00000112659 chr6:43213517-43213517;C/T missense_variant False CUL9@p.E783G 1 0.097852029 ENSG00000112659 chr6:43193168-43193168;A/G missense_variant False CUL9@p.E710Q 1 0.375 ENSG00000112659 chr6:43188663-43188663;G/C missense_variant False CUL9@p.E578K 1 0.333333333 ENSG00000112659 chr6:43187863-43187863;G/A missense_variant False CUL9@p.E440Q 1 0.378378378 ENSG00000112659 chr6:43187026-43187026;G/C missense_variant False CUL9@p.E2360Q 1 0.310344828 ENSG00000112659 chr6:43222824-43222824;G/C missense_variant False CUL9@p.E1791Q 1 0.117647059 ENSG00000112659 chr6:43213450-43213450;G/C missense_variant False CUL9@p.R674H 1 0.531531532 ENSG00000112659 chr6:43188556-43188556;G/A missense_variant False CUTA@p.G111R 1 0.455696203 ENSG00000112514 chr6:33417129-33417129;C/T missense_variant False CTNND1@p.S767F 1 0.394736842 ENSG00000198561 chr11:57809331-57809331;C/T missense_variant False CUX1@p.D578H 1 0.284210526 ENSG00000257923 chr7:102280094-102280094;G/C missense_variant False CUX1@p.P888A 1 0.1625 ENSG00000257923 chr7:102201959-102201959;C/G missense_variant False CUX1@p.P427L 1 0.491525424 ENSG00000257923 chr7:102196691-102196691;C/T missense_variant False CUX1@p.K811N 1 0.24 ENSG00000257923 chr7:102201730-102201730;A/T missense_variant False CUX1@p.E547K 1 0.1015625 ENSG00000257923 chr7:102197050-102197050;G/A missense_variant False CUX1@p.E237Q 1 0.096774194 ENSG00000257923 chr7:102158594-102158594;G/C missense_variant False CUX1@p.D801N 1 0.18 ENSG00000257923 chr7:102201698-102201698;G/A missense_variant False CUTC@p.V142G 1 0.108108108 ENSG00000119929 chr10:99744058-99744058;T/G missense_variant False CUTA@p.Q102E 1 0.25 ENSG00000112514 chr6:33417264-33417264;G/C missense_variant False CUTC@p.S252C 1 0.5 ENSG00000119929 chr10:99755672-99755672;C/G missense_variant False CUTC@p.R83Q 1 0.144508671 ENSG00000119929 chr10:99743207-99743207;G/A missense_variant False CUTC@p.R211T 1 0.066666667 ENSG00000119929 chr10:99754559-99754559;G/C missense_variant False CUTC@p.R207I 1 0.257575758 ENSG00000119929 chr10:99754547-99754547;G/T missense_variant False CUTC@p.L140V 1 0.717391304 ENSG00000119929 chr10:99744051-99744051;C/G missense_variant False CUTA@p.S54L 1 0.240437158 ENSG00000112514 chr6:33417577-33417577;G/A missense_variant False CUL9@p.A616S 1 0.16 ENSG00000112659 chr6:43187977-43187977;G/T missense_variant False CUL7@p.S1536L 1 0.522727273 ENSG00000044090 chr6:43038433-43038433;G/A missense_variant False CUL7@p.R256W 1 0.305084746 ENSG00000044090 chr6:43051435-43051435;G/A missense_variant False CUL3@p.S330Y 1 0.142857143 ENSG00000036257 chr2:224506898-224506898;G/T missense_variant False CUL4B@p.L732Kfs*5 1 0.238095238 ENSG00000158290 chrX:120535850-120535851;AC/- frameshift_variant False CUL4B@p.H416Y 1 0.219512195 ENSG00000158290 chrX:120543791-120543791;G/A missense_variant False CUL4B@p.F708L 1 0.61971831 ENSG00000158290 chrX:120535920-120535920;G/C missense_variant False CUL4A@p.M704I 1 0.44 ENSG00000139842 chr13:113260687-113260687;G/A missense_variant False CUL4A@p.E258Q 1 0.358974359 ENSG00000139842 chr13:113235069-113235069;G/C missense_variant False CUL4A@p.E207K 1 0.162162162 ENSG00000139842 chr13:113233283-113233283;G/A missense_variant False CUL3@p.S213P 1 0.380952381 ENSG00000036257 chr2:224513541-224513541;A/G missense_variant False CUL7@p.Q186K 1 0.264705882 ENSG00000044090 chr6:43052233-43052233;G/T missense_variant False CUL3@p.Q598H 1 0.238095238 ENSG00000036257 chr2:224495880-224495880;C/G missense_variant False CUL3@p.H67Y 1 0.4 ENSG00000036257 chr2:224557724-224557724;G/A missense_variant False CUL3@p.E687Q 1 0.045454545 ENSG00000036257 chr2:224478316-224478316;C/G missense_variant False CUL3@p.E43K 1 0.857142857 ENSG00000036257 chr2:224557796-224557796;C/T missense_variant False CUL3@p.D426H 1 0.647058824 ENSG00000036257 chr2:224503753-224503753;C/G missense_variant False CUL2@p.V30I 1 0.149425287 ENSG00000108094 chr10:35071230-35071230;C/T missense_variant False CUL4B@p.P672S 1 0.350649351 ENSG00000158290 chrX:120537013-120537013;G/A missense_variant False CUL4B@p.R73K 1 0.238095238 ENSG00000158290 chrX:120560475-120560475;C/T missense_variant False CUL4B@p.S110F 1 0.373134328 ENSG00000158290 chrX:120560364-120560364;G/A missense_variant False CUL4B@p.S232L 1 0.295454545 ENSG00000158290 chrX:120557955-120557955;G/A missense_variant False CUL5@p.H62N 1 0.166666667 ENSG00000166266 chr11:108046319-108046319;C/A missense_variant False CUL5@p.I729V 1 0.183673469 ENSG00000166266 chr11:108104226-108104226;A/G missense_variant False CUL5@p.Q399E 1 0.150537634 ENSG00000166266 chr11:108088543-108088543;C/G missense_variant False CUL5@p.S667L 1 0.337837838 ENSG00000166266 chr11:108097730-108097730;C/T missense_variant False CUL7@p.D508Y 1 0.079545455 ENSG00000044090 chr6:43050010-43050010;C/A missense_variant False CUL7@p.E1313Q 1 0.181818182 ENSG00000044090 chr6:43040616-43040616;C/G missense_variant False CUL7@p.E1388K 1 0.421052632 ENSG00000044090 chr6:43040288-43040288;C/T missense_variant False CUL7@p.E232K 1 0.206666667 ENSG00000044090 chr6:43051650-43051650;C/T missense_variant False CUL7@p.E238Q 1 0.303797468 ENSG00000044090 chr6:43051632-43051632;C/G missense_variant False CUL7@p.G909W 1 0.323529412 ENSG00000044090 chr6:43046027-43046027;C/A missense_variant False CUL7@p.K1040N 1 0.06779661 ENSG00000044090 chr6:43044804-43044804;C/G missense_variant False CUL7@p.K781N 1 0.285714286 ENSG00000044090 chr6:43046934-43046934;C/G missense_variant False CUL7@p.N1499S 1 0.211864407 ENSG00000044090 chr6:43038637-43038637;T/C missense_variant False CUX1@p.Q506H 1 0.123076923 ENSG00000257923 chr7:102275320-102275320;G/C missense_variant False CUX1@p.R437K 1 0.178571429 ENSG00000257923 chr7:102273426-102273426;G/A missense_variant False CUX1@p.R816H 1 0.35483871 ENSG00000257923 chr7:102201744-102201744;G/A missense_variant False CX3CL1@p.S293L 1 0.256410256 ENSG00000006210 chr16:57382716-57382716;C/T missense_variant False CXADR@p.S195C 1 0.215686275 ENSG00000154639 chr21:17560714-17560714;C/G missense_variant False CXADR@p.H274Y 1 0.454545455 ENSG00000154639 chr21:17561463-17561463;C/T missense_variant False CX3CR1@p.Q170H 1 0.314685315 ENSG00000168329 chr3:39266000-39266000;C/G missense_variant False CX3CR1@p.N99Y 1 0.271604938 ENSG00000168329 chr3:39266215-39266215;T/A missense_variant False CX3CR1@p.E279K 1 0.347107438 ENSG00000168329 chr3:39265675-39265675;C/T missense_variant False CX3CL1@p.S391L 1 0.117647059 ENSG00000006210 chr16:57383010-57383010;C/T missense_variant False CX3CL1@p.S287C 1 0.339622642 ENSG00000006210 chr16:57382698-57382698;C/G missense_variant False CWH43@p.I563F 1 0.206451613 ENSG00000109182 chr4:49038064-49038064;A/T missense_variant False CX3CL1@p.R339W 1 0.265306122 ENSG00000006210 chr16:57382853-57382853;C/T missense_variant False CX3CL1@p.P241A 1 0.230769231 ENSG00000006210 chr16:57382559-57382559;C/G missense_variant False CX3CL1@p.P140L 1 0.4 ENSG00000006210 chr16:57382257-57382257;C/T missense_variant False CX3CL1@p.M319Pfs*108 1 0.316455696 ENSG00000006210 chr16:57382790-57382796;ACCATGG/- frameshift_variant False CX3CL1@p.G350V 1 0.863636364 ENSG00000006210 chr16:57382887-57382887;G/T missense_variant False CX3CL1@p.A270V 1 0.348837209 ENSG00000006210 chr16:57382647-57382647;C/T missense_variant False CXCL10@p.L7V 1 0.095238095 ENSG00000169245 chr4:76023413-76023413;G/C missense_variant False CXCL11@p.E68Q 1 0.135416667 ENSG00000169248 chr4:76035106-76035106;C/G missense_variant False CXCL13@p.S7F 1 0.144736842 ENSG00000156234 chr4:77605885-77605885;C/T missense_variant False CXCL14@p.M56I 1 0.527472527 ENSG00000145824 chr5:135578472-135578472;C/G missense_variant False CXCL16@p.V248L 1 0.746031746 ENSG00000161921 chr17:4734629-4734629;C/A missense_variant False CXCL17@p.F80L 1 0.142857143 ENSG00000189377 chr19:42432998-42432998;G/C missense_variant False CXCL1@p.E73K 1 0.205128205 ENSG00000163739 chr4:73869785-73869785;G/A missense_variant False CXCL2@p.A38V 1 0.352272727 ENSG00000081041 chr4:74098910-74098910;G/A missense_variant False CXCL5@p.P94A 1 0.186813187 ENSG00000163735 chr4:73998058-73998058;G/C missense_variant False CXCL6@p.P73A 1 0.162162162 ENSG00000124875 chr4:73837071-73837071;C/G missense_variant False CXCL8@p.E65K 1 0.095890411 ENSG00000169429 chr4:73741670-73741670;G/A missense_variant False CXCL8@p.L19V 1 0.313868613 ENSG00000169429 chr4:73740713-73740713;C/G missense_variant False CXCL8@p.Q35E 1 0.227848101 ENSG00000169429 chr4:73741580-73741580;C/G missense_variant False CXCL9@p.G70A 1 0.1875 ENSG00000138755 chr4:76004876-76004876;C/G missense_variant False CXCL9@p.L7V 1 0.547169811 ENSG00000138755 chr4:76007431-76007431;G/C missense_variant False CXCL9@p.N69K 1 0.15 ENSG00000138755 chr4:76004878-76004878;A/T missense_variant False CXCR3@p.E33D 1 0.833333333 ENSG00000186810 chrX:71617373-71617373;C/G missense_variant False CWH43@p.S253C 1 0.163793103 ENSG00000109182 chr4:48998504-48998504;C/G missense_variant False CWH43@p.H500Y 1 0.324324324 ENSG00000109182 chr4:49030950-49030950;C/T missense_variant False CUX2@p.A28T 1 0.292307692 ENSG00000111249 chr12:111214218-111214218;G/A missense_variant False CUX2@p.M1462V 1 0.148867314 ENSG00000111249 chr12:111348248-111348248;A/G missense_variant False CWC22@p.G527_E531del 1 0.296296296 ENSG00000163510 chr2:179954301-179954315;TTCTTTGAATATACC/- inframe_deletion False CWC15@p.Q48E 1 0.2 ENSG00000150316 chr11:94971477-94971477;G/C missense_variant False CUZD1@p.Y601Sfs*9 1 0.294642857 ENSG00000138161 chr10:122832300-122832300;T/- frameshift_variant False CUZD1@p.V424F 1 0.875 ENSG00000138161 chr10:122834818-122834818;C/A missense_variant False CUX2@p.V1173L 1 0.164383562 ENSG00000111249 chr12:111341911-111341911;G/T missense_variant False CUX2@p.S1241R 1 0.28125 ENSG00000111249 chr12:111347587-111347587;C/A missense_variant False CUX2@p.G740R 1 0.555555556 ENSG00000111249 chr12:111320227-111320227;G/A missense_variant False CWH43@p.G404E 1 0.2375 ENSG00000109182 chr4:49017273-49017273;G/A missense_variant False CUX2@p.G1242R 1 0.460869565 ENSG00000111249 chr12:111347588-111347588;G/A missense_variant False CUX2@p.E590K 1 0.228571429 ENSG00000111249 chr12:111310550-111310550;G/A missense_variant False CUX2@p.E51K 1 0.144927536 ENSG00000111249 chr12:111214287-111214287;G/A missense_variant False CUX2@p.E1483Q 1 0.165354331 ENSG00000111249 chr12:111348311-111348311;G/C missense_variant False CUX2@p.E1276Q 1 0.12987013 ENSG00000111249 chr12:111347690-111347690;G/C missense_variant False CUX2@p.E1039D 1 0.294117647 ENSG00000111249 chr12:111334631-111334631;G/C missense_variant False CWC22@p.H368D 1 0.21875 ENSG00000163510 chr2:179970695-179970695;G/C missense_variant False CWC22@p.R545Q 1 0.166666667 ENSG00000163510 chr2:179954260-179954260;C/T missense_variant False CWC22@p.R778K 1 0.674698795 ENSG00000163510 chr2:179945523-179945523;C/T missense_variant False CWC22@p.S669F 1 0.6 ENSG00000163510 chr2:179950646-179950646;G/A missense_variant False CWC27@p.E146Q 1 0.394736842 ENSG00000153015 chr5:64785520-64785520;G/C missense_variant False CWC27@p.E268Q 1 0.333333333 ENSG00000153015 chr5:64804250-64804250;G/C missense_variant False CWC27@p.E271K 1 0.179487179 ENSG00000153015 chr5:64804259-64804259;G/A missense_variant False CWC27@p.N39Kfs*17 1 0.14673913 ENSG00000153015 chr5:64774763-64774784;AATTTTATCCAACTTTGTTTGG/- frameshift_variant False CWC27@p.P170A 1 0.378378378 ENSG00000153015 chr5:64786536-64786536;C/G missense_variant False CWC27@p.Q365R 1 0.432432432 ENSG00000153015 chr5:64971754-64971754;A/G missense_variant False CWC27@p.R92H 1 0.116883117 ENSG00000153015 chr5:64783858-64783858;G/A missense_variant False CWC27@p.S73N 1 0.342105263 ENSG00000153015 chr5:64781999-64781999;G/A missense_variant False CWF19L1@p.R408K 1 0.188976378 ENSG00000095485 chr10:100238053-100238053;C/T missense_variant False CWF19L1@p.S334I 1 0.324675325 ENSG00000095485 chr10:100243741-100243741;C/A missense_variant False CWF19L2@p.E673K 1 0.292307692 ENSG00000152404 chr11:107353592-107353592;C/T missense_variant False CWF19L2@p.K808N 1 0.133333333 ENSG00000152404 chr11:107334896-107334896;T/A missense_variant False CWF19L2@p.L706V 1 0.102040816 ENSG00000152404 chr11:107349023-107349023;G/C missense_variant False CUL2@p.M622I 1 0.071428571 ENSG00000108094 chr10:35016213-35016213;C/G missense_variant False CUL2@p.G54A 1 0.096774194 ENSG00000108094 chr10:35063021-35063021;C/G missense_variant False CUL1@p.T54S 1 0.194444444 ENSG00000055130 chr7:148753996-148753996;C/G missense_variant False CTSF@p.E371D 1 0.404494382 ENSG00000174080 chr11:66564939-66564939;C/G missense_variant False CTSK@p.K153R 1 0.097560976 ENSG00000143387 chr1:150804181-150804181;T/C missense_variant False CTSK@p.E229K 1 0.073684211 ENSG00000143387 chr1:150799643-150799643;C/T missense_variant False CTSG@p.R48T 1 0.441281139 ENSG00000100448 chr14:24575325-24575325;C/G missense_variant False CTSG@p.L248P 1 0.121883657 ENSG00000100448 chr14:24573662-24573662;A/G missense_variant False CTSG@p.G23A 1 0.447916667 ENSG00000100448 chr14:24575400-24575400;C/G missense_variant False CTSF@p.K396N 1 0.888888889 ENSG00000174080 chr11:66564784-66564784;C/G missense_variant False CTSF@p.E243del 1 0.193548387 ENSG00000174080 chr11:66566160-66566162;CTC/- inframe_deletion False CTSC@p.D395Y 1 0.489361702 ENSG00000109861 chr11:88294215-88294215;C/A missense_variant False CTSF@p.D355N 1 0.164383562 ENSG00000174080 chr11:66564989-66564989;C/T missense_variant False CTSF@p.D157N 1 0.467532468 ENSG00000174080 chr11:66567506-66567506;C/T missense_variant False CTSE@p.R39Q 1 0.245614035 ENSG00000196188 chr1:206023010-206023010;C/T missense_variant False CTSE@p.G149E 1 0.453333333 ENSG00000196188 chr1:206021065-206021065;C/T missense_variant False CTSC@p.S343C 1 0.151162791 ENSG00000109861 chr11:88294370-88294370;G/C missense_variant False CTSC@p.L33F 1 0.416666667 ENSG00000109861 chr11:88337576-88337576;G/A missense_variant False CTSK@p.N53Kfs*9 1 0.363636364 ENSG00000143387 chr1:150806186-150806187;-/T frameshift_variant False CTSL@p.K299R 1 0.418604651 ENSG00000135047 chr9:87730492-87730492;A/G missense_variant False CTSO@p.P240H 1 0.296296296 ENSG00000256043 chr4:155929661-155929661;G/T missense_variant False CTSV@p.G174V 1 0.441860465 ENSG00000136943 chr9:97036623-97036623;C/A missense_variant False CTSV@p.R101K 1 0.103896104 ENSG00000136943 chr9:97037346-97037346;C/T missense_variant False CTSW@p.P259L 1 0.243727599 ENSG00000172543 chr11:65883099-65883099;C/T missense_variant False CTSW@p.S313L 1 0.054945055 ENSG00000172543 chr11:65883342-65883342;C/T missense_variant False CTSZ@p.E255K 1 0.153846154 ENSG00000101160 chr20:58996677-58996677;C/T missense_variant False CTTN@p.A450G 1 0.296296296 ENSG00000085733 chr11:70433183-70433183;C/G missense_variant False CTTN@p.D288N 1 0.064102564 ENSG00000085733 chr11:70421541-70421541;G/A missense_variant False CTTN@p.D516N 1 0.058823529 ENSG00000085733 chr11:70435055-70435055;G/A missense_variant False CTTN@p.E510K 1 0.222727273 ENSG00000085733 chr11:70435037-70435037;G/A missense_variant False CTTN@p.E523D 1 0.243589744 ENSG00000085733 chr11:70435078-70435078;G/C missense_variant False CTTN@p.Q216E 1 0.795 ENSG00000085733 chr11:70419823-70419823;C/G missense_variant False CTTNBP2@p.A705T 1 0.52866242 ENSG00000077063 chr7:117784410-117784410;C/T missense_variant False CTTNBP2@p.C1445S 1 0.547169811 ENSG00000077063 chr7:117724661-117724661;A/T missense_variant False CTTNBP2@p.D1526E 1 0.23655914 ENSG00000077063 chr7:117719570-117719570;G/C missense_variant False CTSC@p.H241Y 1 0.109589041 ENSG00000109861 chr11:88300566-88300566;G/A missense_variant False CTSB@p.S299C 1 0.130434783 ENSG00000164733 chr8:11845687-11845687;G/C missense_variant False CTTNBP2@p.F84L 1 0.240963855 ENSG00000077063 chr7:117810927-117810927;G/C missense_variant False CTNND2@p.Q153H 1 0.09375 ENSG00000169862 chr5:11397184-11397184;C/G missense_variant False CTNS@p.S86C 1 0.213483146 ENSG00000040531 chr17:3655029-3655029;C/G missense_variant False CTNND2@p.V825L 1 0.101851852 ENSG00000169862 chr5:11098739-11098739;C/A missense_variant False CTNND2@p.S758I 1 0.243902439 ENSG00000169862 chr5:11117454-11117454;C/A missense_variant False CTNND2@p.S724L 1 0.465517241 ENSG00000169862 chr5:11117556-11117556;G/A missense_variant False CTNND2@p.R82Q 1 0.166666667 ENSG00000169862 chr5:11564986-11564986;C/T missense_variant False CTNND2@p.R702Q 1 0.408163265 ENSG00000169862 chr5:11159630-11159630;C/T missense_variant False CTNND2@p.P524L 1 0.480392157 ENSG00000169862 chr5:11346429-11346429;G/A missense_variant False CTSB@p.K220Q 1 0.289473684 ENSG00000164733 chr8:11847697-11847697;T/G missense_variant False CTNND2@p.N634Tfs*9 1 0.346938776 ENSG00000169862 chr5:11199527-11199527;C/- frameshift_variant False CTNND2@p.L121I 1 0.112903226 ENSG00000169862 chr5:11411614-11411614;G/T missense_variant False CTNND2@p.K813N 1 0.203904555 ENSG00000169862 chr5:11110882-11110882;C/G missense_variant False CTNND2@p.E513K 1 0.223021583 ENSG00000169862 chr5:11346463-11346463;C/T missense_variant False CTNND2@p.A500T 1 0.194968553 ENSG00000169862 chr5:11346502-11346502;C/T missense_variant False CTNND2@p.A24T 1 0.45 ENSG00000169862 chr5:11732240-11732240;C/T missense_variant False CTPS1@p.R268Q 1 0.586956522 ENSG00000171793 chr1:40995999-40995999;G/A missense_variant False CTPS2@p.F529L 1 0.277777778 ENSG00000047230 chrX:16609645-16609645;A/T missense_variant False CTPS2@p.I463M 1 0.407894737 ENSG00000047230 chrX:16639151-16639151;T/C missense_variant False CTR9@p.C309del 1 0.387096774 ENSG00000198730 chr11:10763504-10763506;GCT/- inframe_deletion False CTR9@p.D1060Y 1 0.25 ENSG00000198730 chr11:10778761-10778761;G/T missense_variant False CTR9@p.K935N 1 0.441176471 ENSG00000198730 chr11:10774089-10774089;G/C missense_variant False CTR9@p.Q391E 1 0.216494845 ENSG00000198730 chr11:10763856-10763856;C/G missense_variant False CTR9@p.R314K 1 0.071428571 ENSG00000198730 chr11:10763522-10763522;G/A missense_variant False CTR9@p.S286N 1 0.318181818 ENSG00000198730 chr11:10763438-10763438;G/A missense_variant False CTRB2@p.K258N 1 0.072289157 ENSG00000168928 chr16:75204179-75204179;C/G missense_variant False CTRC@p.R188S 1 0.083333333 ENSG00000162438 chr1:15444676-15444676;G/C missense_variant False CTRL@p.D91H 1 0.25 ENSG00000141086 chr16:67930773-67930773;C/G missense_variant False CTRL@p.E97K 1 0.075757576 ENSG00000141086 chr16:67930755-67930755;C/T missense_variant False CTRL@p.P22S 1 0.305555556 ENSG00000141086 chr16:67931190-67931190;G/A missense_variant False CTRL@p.S105F 1 0.196078431 ENSG00000141086 chr16:67930730-67930730;G/A missense_variant False CTSA@p.G439S 1 0.125 ENSG00000064601 chr20:45898065-45898065;G/A missense_variant False CTSB@p.I99M 1 0.433333333 ENSG00000164733 chr8:11850896-11850896;G/C missense_variant False CTTNBP2@p.D808H 1 0.145454545 ENSG00000077063 chr7:117780542-117780542;C/G missense_variant False CTTNBP2@p.L1403V 1 0.105263158 ENSG00000077063 chr7:117725106-117725106;G/C missense_variant False CUL1@p.S604L 1 0.633333333 ENSG00000055130 chr7:148792730-148792730;C/T missense_variant False CUBN@p.R1613Q 1 0.446351931 ENSG00000107611 chr10:16954406-16954406;C/T missense_variant False CUBN@p.S2119F 1 0.642857143 ENSG00000107611 chr10:16925690-16925690;G/A missense_variant False CUBN@p.S1043N 1 0.201388889 ENSG00000107611 chr10:17065519-17065519;C/T missense_variant False CUBN@p.S1012F 1 0.114155251 ENSG00000107611 chr10:17065612-17065612;G/A missense_variant False CUBN@p.R64I 1 0.444444444 ENSG00000107611 chr10:17129182-17129182;C/A missense_variant False CUBN@p.R2517T 1 0.303030303 ENSG00000107611 chr10:16907663-16907663;C/G missense_variant False CUBN@p.R1715T 1 0.147058824 ENSG00000107611 chr10:16948543-16948543;C/G missense_variant False CUBN@p.Q31H 1 0.255102041 ENSG00000107611 chr10:17129673-17129673;C/G missense_variant False CUBN@p.L3473V 1 0.422360248 ENSG00000107611 chr10:16831363-16831363;G/C missense_variant False CUBN@p.Q3155R 1 0.161764706 ENSG00000107611 chr10:16851434-16851434;T/C missense_variant False CUBN@p.P337A 1 0.087719298 ENSG00000107611 chr10:17110925-17110925;G/C missense_variant False CUBN@p.P2243L 1 0.162162162 ENSG00000107611 chr10:16920056-16920056;G/A missense_variant False CUBN@p.P1408T 1 0.103773585 ENSG00000107611 chr10:16990462-16990462;G/T missense_variant False CUBN@p.P1182R 1 0.114285714 ENSG00000107611 chr10:17045134-17045134;G/C missense_variant False CUBN@p.N1855D 1 0.13253012 ENSG00000107611 chr10:16939133-16939133;T/C missense_variant False CUBN@p.S275C 1 0.333333333 ENSG00000107611 chr10:17114086-17114086;G/C missense_variant False CUBN@p.S3175L 1 0.219178082 ENSG00000107611 chr10:16851374-16851374;G/A missense_variant False CUBN@p.S600C 1 0.057142857 ENSG00000107611 chr10:17088312-17088312;G/C missense_variant False CUBN@p.T1313A 1 0.097826087 ENSG00000107611 chr10:17041113-17041113;T/C missense_variant False CUBN@p.V2901D 1 0.228571429 ENSG00000107611 chr10:16890424-16890424;A/T missense_variant False CUBN@p.V322I 1 0.279569892 ENSG00000107611 chr10:17110970-17110970;C/T missense_variant False CUBN@p.W10C 1 0.15625 ENSG00000107611 chr10:17129736-17129736;C/G missense_variant False CUEDC1@p.L264F 1 0.191489362 ENSG00000180891 chr17:57871362-57871362;C/A missense_variant False CUEDC2@p.R91S 1 0.380434783 ENSG00000107874 chr10:102424506-102424506;C/A missense_variant False CUL1@p.D754N 1 0.321428571 ENSG00000055130 chr7:148800511-148800511;G/A missense_variant False CUL1@p.E292K 1 0.211267606 ENSG00000055130 chr7:148766645-148766645;G/A missense_variant False CUL1@p.E420K 1 0.358490566 ENSG00000055130 chr7:148784037-148784037;G/A missense_variant False CUL1@p.E443K 1 0.220930233 ENSG00000055130 chr7:148786579-148786579;G/A missense_variant False CUL1@p.E560K 1 0.323076923 ENSG00000055130 chr7:148790313-148790313;G/A missense_variant False CUL1@p.G732D 1 0.13559322 ENSG00000055130 chr7:148799333-148799333;G/A missense_variant False CUL1@p.Q607H 1 0.321428571 ENSG00000055130 chr7:148792740-148792740;G/C missense_variant False CUL1@p.R41K 1 0.128440367 ENSG00000055130 chr7:148730244-148730244;G/A missense_variant False CUBN@p.N1071Y 1 0.382352941 ENSG00000107611 chr10:17047532-17047532;T/A missense_variant False CUBN@p.L1036F 1 0.220338983 ENSG00000107611 chr10:17065539-17065539;T/G missense_variant False CTTNBP2@p.L231P 1 0.421052632 ENSG00000077063 chr7:117792504-117792504;A/G missense_variant False CTTNBP2@p.R911T 1 0.279411765 ENSG00000077063 chr7:117777557-117777557;C/G missense_variant False CUBN@p.D2144H 1 0.318181818 ENSG00000107611 chr10:16925616-16925616;C/G missense_variant False CUBN@p.D1967N 1 0.169811321 ENSG00000107611 chr10:16937619-16937619;C/T missense_variant False CUBN@p.D1221Ifs*16 1 0.3125 ENSG00000107611 chr10:17045019-17045019;T/- frameshift_variant False CTXN1@p.L45F 1 0.146341463 ENSG00000178531 chr19:7925404-7925404;C/G missense_variant False CTTNBP2NL@p.R463H 1 0.24260355 ENSG00000143079 chr1:112456880-112456880;G/A missense_variant False CTTNBP2NL@p.E137D 1 0.281818182 ENSG00000143079 chr1:112454529-112454529;G/C missense_variant False CTTNBP2@p.R677T 1 0.466666667 ENSG00000077063 chr7:117791166-117791166;C/G missense_variant False CUBN@p.L1030H 1 0.139442231 ENSG00000107611 chr10:17065558-17065558;A/T missense_variant False CTTNBP2@p.R1519T 1 0.161290323 ENSG00000077063 chr7:117719592-117719592;C/G missense_variant False CTTNBP2@p.R1266H 1 0.219512195 ENSG00000077063 chr7:117734992-117734992;C/T missense_variant False CTTNBP2@p.P558S 1 0.052132701 ENSG00000077063 chr7:117791524-117791524;G/A missense_variant False CTTNBP2@p.P542S 1 0.258278146 ENSG00000077063 chr7:117791572-117791572;G/A missense_variant False CTTNBP2@p.N541S 1 0.130630631 ENSG00000077063 chr7:117791574-117791574;T/C missense_variant False CTTNBP2@p.M125V 1 0.058823529 ENSG00000077063 chr7:117810806-117810806;T/C missense_variant False CUBN@p.D2941N 1 0.589552239 ENSG00000107611 chr10:16888501-16888501;C/T missense_variant False CUBN@p.D3061N 1 0.11023622 ENSG00000107611 chr10:16874429-16874429;C/T missense_variant False CUBN@p.D3082H 1 0.414141414 ENSG00000107611 chr10:16869846-16869846;C/G missense_variant False CUBN@p.D3180Y 1 0.108695652 ENSG00000107611 chr10:16851360-16851360;C/A missense_variant False CUBN@p.E1279K 1 0.135416667 ENSG00000107611 chr10:17041215-17041215;C/T missense_variant False CUBN@p.E2450K 1 0.085106383 ENSG00000107611 chr10:16915035-16915035;C/T missense_variant False CUBN@p.E2524D 1 0.25 ENSG00000107611 chr10:16907641-16907641;C/G missense_variant False CUBN@p.E308K 1 0.140186916 ENSG00000107611 chr10:17111012-17111012;C/T missense_variant False CUBN@p.F1064V 1 0.086956522 ENSG00000107611 chr10:17047553-17047553;A/C missense_variant False CUBN@p.F3236L 1 0.476190476 ENSG00000107611 chr10:16841005-16841005;A/G missense_variant False CUBN@p.G1453E 1 0.264705882 ENSG00000107611 chr10:16984272-16984272;C/T missense_variant False CUBN@p.G2309E 1 0.175 ENSG00000107611 chr10:16918696-16918696;C/T missense_variant False CUBN@p.G2557V 1 0.471698113 ENSG00000107611 chr10:16907543-16907543;C/A missense_variant False CUBN@p.H1860D 1 0.305084746 ENSG00000107611 chr10:16939118-16939118;G/C missense_variant False CUBN@p.H1944D 1 0.134615385 ENSG00000107611 chr10:16937688-16937688;G/C missense_variant False CUBN@p.H696R 1 0.10989011 ENSG00000107611 chr10:17085620-17085620;T/C missense_variant False CUBN@p.K645N 1 0.220779221 ENSG00000107611 chr10:17088176-17088176;T/A missense_variant False CSMD3@p.D1301V 1 0.102040816 ENSG00000164796 chr8:112573641-112573641;T/A missense_variant False CSMD1@p.W121R 1 0.4 ENSG00000183117 chr8:4420007-4420007;A/G missense_variant False CXCR3@p.R335H 1 0.95 ENSG00000186810 chrX:71616468-71616468;C/T missense_variant False CR2@p.Q667H 1 0.47260274 ENSG00000117322 chr1:207473823-207473823;G/C missense_variant False CRABP1@p.I133V 1 0.1375 ENSG00000166426 chr15:78347960-78347960;A/G missense_variant False CRABP1@p.G69E 1 0.323529412 ENSG00000166426 chr15:78341178-78341178;G/A missense_variant False CR2@p.S89F 1 0.305555556 ENSG00000117322 chr1:207466733-207466733;C/T missense_variant False CR2@p.S871Y 1 0.402597403 ENSG00000117322 chr1:207476306-207476306;C/A missense_variant False CR2@p.R969I 1 0.179487179 ENSG00000117322 chr1:207478065-207478065;G/T missense_variant False CR2@p.R109I 1 0.441860465 ENSG00000117322 chr1:207466793-207466793;G/T missense_variant False CR2@p.P208L 1 0.262711864 ENSG00000117322 chr1:207468704-207468704;C/T missense_variant False CRABP2@p.S109W 1 0.113207547 ENSG00000143320 chr1:156700582-156700582;G/C missense_variant False CR2@p.L636F 1 0.1796875 ENSG00000117322 chr1:207473109-207473109;G/C missense_variant False CR2@p.I416T 1 0.285714286 ENSG00000117322 chr1:207470761-207470761;T/C missense_variant False CR2@p.G73V 1 0.172839506 ENSG00000117322 chr1:207466685-207466685;G/T missense_variant False CR2@p.E743K 1 0.128571429 ENSG00000117322 chr1:207474904-207474904;G/A missense_variant False CR2@p.D917Y 1 0.315789474 ENSG00000117322 chr1:207477908-207477908;G/T missense_variant False CR1L@p.R192T 1 0.285714286 ENSG00000197721 chr1:207694464-207694464;G/C missense_variant False CRABP2@p.S109L 1 0.152777778 ENSG00000143320 chr1:156700582-156700582;G/A missense_variant False CRACD@p.D695N 1 0.1875 ENSG00000109265 chr4:56315585-56315585;G/A missense_variant False CREBBP@p.G79S 1 0.244680851 ENSG00000005339 chr16:3850860-3850860;C/T missense_variant True CRACDL@p.E459K 1 0.111111111 ENSG00000196872 chr2:98822898-98822898;C/T missense_variant False CRACR2A@p.L104V 1 0.137681159 ENSG00000130038 chr12:3680268-3680268;G/C missense_variant False CRACR2A@p.G376S 1 0.14893617 ENSG00000130038 chr12:3648534-3648534;C/T missense_variant False CRACR2A@p.A55S 1 0.189189189 ENSG00000130038 chr12:3696837-3696837;C/A missense_variant False CRACDL@p.R907T 1 0.365740741 ENSG00000196872 chr2:98796149-98796149;C/G missense_variant False CRACDL@p.I9V 1 0.447761194 ENSG00000196872 chr2:98846776-98846776;T/C missense_variant False CRACDL@p.E865Q 1 0.306666667 ENSG00000196872 chr2:98797361-98797361;C/G missense_variant False CRACDL@p.E16K 1 0.372262774 ENSG00000196872 chr2:98846755-98846755;C/T missense_variant False CRACD@p.E680K 1 0.430051813 ENSG00000109265 chr4:56315540-56315540;G/A missense_variant False CRACDL@p.D94N 1 0.172413793 ENSG00000196872 chr2:98832957-98832957;C/T missense_variant False CRACD@p.W415C 1 0.6 ENSG00000109265 chr4:56314747-56314747;G/C missense_variant False CRACD@p.S924Y 1 0.490566038 ENSG00000109265 chr4:56316273-56316273;C/A missense_variant False CRACD@p.S1054F 1 0.296296296 ENSG00000109265 chr4:56316663-56316663;C/T missense_variant False CRACD@p.P536L 1 0.692307692 ENSG00000109265 chr4:56315109-56315109;C/T missense_variant False CRACD@p.P121A 1 0.056818182 ENSG00000109265 chr4:56313203-56313203;C/G missense_variant False CR1L@p.G71R 1 0.136546185 ENSG00000197721 chr1:207677502-207677502;G/A missense_variant False CR1L@p.G336E 1 0.218487395 ENSG00000197721 chr1:207697647-207697647;G/A missense_variant False CR1L@p.F43I 1 0.123287671 ENSG00000197721 chr1:207677418-207677418;T/A missense_variant False CPXCR1@p.Q43P 1 0.916666667 ENSG00000147183 chrX:88753542-88753542;A/C missense_variant False CPXM2@p.N460S 1 0.180555556 ENSG00000121898 chr10:123767073-123767073;T/C missense_variant False CPXM1@p.W485C 1 0.226804124 ENSG00000088882 chr20:2795864-2795864;C/A missense_variant False CPXM1@p.R383L 1 0.114754098 ENSG00000088882 chr20:2796341-2796341;C/A missense_variant False CPXM1@p.L372H 1 0.109090909 ENSG00000088882 chr20:2796374-2796374;A/T missense_variant False CPXM1@p.L371P 1 0.234042553 ENSG00000088882 chr20:2796377-2796377;A/G missense_variant False CPXM1@p.E394K 1 0.324675325 ENSG00000088882 chr20:2796309-2796309;C/T missense_variant False CPXCR1@p.Q243P 1 0.5 ENSG00000147183 chrX:88754142-88754142;A/C missense_variant False CR1L@p.E175K 1 0.23364486 ENSG00000197721 chr1:207694412-207694412;G/A missense_variant False CPXCR1@p.D84N 1 0.555555556 ENSG00000147183 chrX:88753664-88753664;G/A missense_variant False CPXCR1@p.A56S 1 0.179487179 ENSG00000147183 chrX:88753580-88753580;G/T missense_variant False CPVL@p.S116C 1 0.171641791 ENSG00000106066 chr7:29096159-29096159;G/C missense_variant False CPVL@p.P191A 1 0.133333333 ENSG00000106066 chr7:29086522-29086522;G/C missense_variant False CPVL@p.A435P 1 0.461893764 ENSG00000106066 chr7:29030594-29030594;C/G missense_variant False CPTP@p.E86K 1 0.238095238 ENSG00000224051 chr1:1327374-1327374;G/A missense_variant False CPXM2@p.N674K 1 0.105882353 ENSG00000121898 chr10:123747013-123747013;G/T missense_variant False CPXM2@p.V530A 1 0.542857143 ENSG00000121898 chr10:123762060-123762060;A/G missense_variant False CPZ@p.E74K 1 0.25 ENSG00000109625 chr4:8601221-8601221;G/A missense_variant False CPZ@p.N315K 1 0.23255814 ENSG00000109625 chr4:8606775-8606775;C/A missense_variant False CPZ@p.P404S 1 0.47826087 ENSG00000109625 chr4:8607408-8607408;C/T missense_variant False CPZ@p.R432K 1 0.19047619 ENSG00000109625 chr4:8612094-8612094;G/A missense_variant False CR1@p.C1350S 1 0.4 ENSG00000203710 chr1:207584744-207584744;T/A missense_variant False CR1@p.E1110Q 1 0.048780488 ENSG00000203710 chr1:207577945-207577945;G/C missense_variant False CR1@p.E47K 1 0.206896552 ENSG00000203710 chr1:207505921-207505921;G/A missense_variant False CR1@p.E47Q 1 0.094890511 ENSG00000203710 chr1:207505921-207505921;G/C missense_variant False CR1@p.I1600V 1 0.558823529 ENSG00000203710 chr1:207609541-207609541;A/G missense_variant False CR1@p.P318H 1 0.542553191 ENSG00000203710 chr1:207545374-207545374;C/A missense_variant False CR1@p.P81A 1 0.119402985 ENSG00000203710 chr1:207506023-207506023;C/G missense_variant False CR1@p.P81Q 1 0.132352941 ENSG00000203710 chr1:207506024-207506024;C/A missense_variant False CR1@p.R1392H 1 0.088372093 ENSG00000203710 chr1:207584871-207584871;G/A missense_variant False CR1@p.S1526C 1 0.158415842 ENSG00000203710 chr1:207609320-207609320;C/G missense_variant False CR1@p.V929Ffs*26 1 0.159509202 ENSG00000203710 chr1:207568003-207568003;G/- frameshift_variant False CRACR2B@p.H79Y 1 0.260869565 ENSG00000177685 chr11:828921-828921;C/T missense_variant False CRADD@p.P80S 1 0.24691358 ENSG00000169372 chr12:93679012-93679012;C/T missense_variant False CRAMP1@p.F1033L 1 0.224719101 ENSG00000007545 chr16:1667397-1667397;C/A missense_variant False CREB3L2@p.S37P 1 0.333333333 ENSG00000182158 chr7:137928360-137928360;A/G missense_variant False CREB3L3@p.T232I 1 0.423076923 ENSG00000060566 chr19:4164621-4164621;C/T missense_variant False CREB3L3@p.S186L 1 0.368421053 ENSG00000060566 chr19:4159763-4159763;C/T missense_variant False CREB3L3@p.P443A 1 0.375 ENSG00000060566 chr19:4171910-4171910;C/G missense_variant False CREB3L3@p.K254E 1 0.511627907 ENSG00000060566 chr19:4168396-4168396;A/G missense_variant False CREB3L3@p.E44K 1 0.128205128 ENSG00000060566 chr19:4155001-4155001;G/A missense_variant False CREB3L2@p.S63L 1 0.235294118 ENSG00000182158 chr7:137928281-137928281;G/A missense_variant False CREB3L2@p.P286L 1 0.173913043 ENSG00000182158 chr7:137905760-137905760;G/A missense_variant False CRCT1@p.A26S 1 0.357142857 ENSG00000169509 chr1:152515459-152515459;G/T missense_variant False CREB3L2@p.K301N 1 0.225 ENSG00000182158 chr7:137905714-137905714;C/G missense_variant False CREB3@p.S249F 1 0.071428571 ENSG00000107175 chr9:35736276-35736276;C/T missense_variant False CREB3@p.P40S 1 0.230769231 ENSG00000107175 chr9:35732890-35732890;C/T missense_variant False CREB3@p.P319S 1 0.950980392 ENSG00000107175 chr9:35736565-35736565;C/T missense_variant False CREB3@p.E100K 1 0.224489796 ENSG00000107175 chr9:35733235-35733235;G/A missense_variant False CREB3@p.A164del 1 0.391304348 ENSG00000107175 chr9:35735161-35735163;CTG/- inframe_deletion False CREB3L4@p.D151N 1 0.290780142 ENSG00000143578 chr1:153969363-153969363;G/A missense_variant False CREB3L4@p.D161N 1 0.603773585 ENSG00000143578 chr1:153969393-153969393;G/A missense_variant False CREB3L4@p.E82K 1 0.088235294 ENSG00000143578 chr1:153968999-153968999;G/A missense_variant False CREB3L4@p.G29E 1 0.436619718 ENSG00000143578 chr1:153968611-153968611;G/A missense_variant False CREB3L4@p.L69F 1 0.316666667 ENSG00000143578 chr1:153968962-153968962;G/C missense_variant False CREB3L4@p.S156I 1 0.45 ENSG00000143578 chr1:153969379-153969379;G/T missense_variant False CREB5@p.D52H 1 0.346666667 ENSG00000146592 chr7:28494984-28494984;G/C missense_variant False CREB5@p.G490E 1 0.158450704 ENSG00000146592 chr7:28819221-28819221;G/A missense_variant False CREB5@p.H476N 1 0.188732394 ENSG00000146592 chr7:28819178-28819178;C/A missense_variant False CREB5@p.R366Q 1 0.152777778 ENSG00000146592 chr7:28809257-28809257;G/A missense_variant False CREB5@p.V143D 1 0.264150943 ENSG00000146592 chr7:28570501-28570501;T/A missense_variant False CREBBP@p.D1143H 1 0.24 ENSG00000005339 chr16:3757991-3757991;C/G missense_variant True CREBBP@p.D1265H 1 0.181818182 ENSG00000005339 chr16:3749670-3749670;C/G missense_variant True CREBBP@p.D1435G 1 0.705882353 ENSG00000005339 chr16:3738649-3738649;T/C missense_variant True CREBBP@p.E1012K 1 0.375 ENSG00000005339 chr16:3769200-3769200;C/T missense_variant True CREBBP@p.F1484S 1 0.503496503 ENSG00000005339 chr16:3736759-3736759;A/G missense_variant True CREBBP@p.G2381C 1 0.28 ENSG00000005339 chr16:3727906-3727906;C/A missense_variant True CRCT1@p.S38Y 1 0.4 ENSG00000169509 chr1:152515496-152515496;C/A missense_variant False CRCP@p.D146Y 1 0.231884058 ENSG00000241258 chr7:66152346-66152346;G/T missense_variant False CRAMP1@p.K1177N 1 0.521978022 ENSG00000007545 chr16:1670695-1670695;G/T missense_variant False CRAT@p.E234Q 1 0.3 ENSG00000095321 chr9:129101988-129101988;C/G missense_variant False CRB1@p.C394R 1 0.101010101 ENSG00000134376 chr1:197421008-197421008;T/C missense_variant False CRB1@p.A593V 1 0.177777778 ENSG00000134376 chr1:197421606-197421606;C/T missense_variant False CRAT@p.Q175E 1 0.327380952 ENSG00000095321 chr9:129102507-129102507;G/C missense_variant False CRAT@p.N96K 1 0.4 ENSG00000095321 chr9:129107817-129107817;G/C missense_variant False CRAT@p.M152I 1 0.288065844 ENSG00000095321 chr9:129103021-129103021;C/G missense_variant False CRAT@p.L21F 1 0.3125 ENSG00000095321 chr9:129108042-129108042;C/G missense_variant False CRAT@p.E144K 1 0.527777778 ENSG00000095321 chr9:129103047-129103047;C/T missense_variant False CRBN@p.P382R 1 0.375 ENSG00000113851 chr3:3152459-3152459;G/C missense_variant False CRAT@p.D483N 1 0.067567568 ENSG00000095321 chr9:129098030-129098030;C/T missense_variant False CRAT@p.A226V 1 0.093023256 ENSG00000095321 chr9:129102011-129102011;G/A missense_variant False CRAMP1@p.S753C 1 0.682539683 ENSG00000007545 chr16:1659908-1659908;C/G missense_variant False CRAMP1@p.P810A 1 0.3375 ENSG00000007545 chr16:1662504-1662504;C/G missense_variant False CRAMP1@p.N1237D 1 0.389830508 ENSG00000007545 chr16:1673944-1673944;A/G missense_variant False CRAMP1@p.L1049F 1 0.228571429 ENSG00000007545 chr16:1668004-1668004;C/T missense_variant False CRB1@p.D491N 1 0.4 ENSG00000134376 chr1:197421299-197421299;G/A missense_variant False CRB1@p.D585H 1 0.416666667 ENSG00000134376 chr1:197421581-197421581;G/C missense_variant False CRB1@p.D908N 1 0.725925926 ENSG00000134376 chr1:197429494-197429494;G/A missense_variant False CRB1@p.E227K 1 0.202020202 ENSG00000134376 chr1:197344307-197344307;G/A missense_variant False CRB1@p.E576K 1 0.357142857 ENSG00000134376 chr1:197421554-197421554;G/A missense_variant False CRB1@p.H1150N 1 0.46031746 ENSG00000134376 chr1:197435311-197435311;C/A missense_variant False CRB1@p.P1044S 1 0.24 ENSG00000134376 chr1:197434993-197434993;C/T missense_variant False CRB1@p.Q547H 1 0.37593985 ENSG00000134376 chr1:197421469-197421469;G/T missense_variant False CRB1@p.S57L 1 0.160714286 ENSG00000134376 chr1:197328521-197328521;C/T missense_variant False CRB1@p.S779F 1 0.435897436 ENSG00000134376 chr1:197427661-197427661;C/T missense_variant False CRB1@p.T1228S 1 0.147540984 ENSG00000134376 chr1:197435545-197435545;A/T missense_variant False CRB1@p.T1233I 1 0.394736842 ENSG00000134376 chr1:197435561-197435561;C/T missense_variant False CRB1@p.V278A 1 0.427536232 ENSG00000134376 chr1:197344461-197344461;T/C missense_variant False CRB2@p.E1087G 1 0.266666667 ENSG00000148204 chr9:123373791-123373791;A/G missense_variant False CRB2@p.E187K 1 0.666666667 ENSG00000148204 chr9:123366057-123366057;G/A missense_variant False CRB2@p.S152L 1 0.395348837 ENSG00000148204 chr9:123365953-123365953;C/T missense_variant False CRB2@p.V1194M 1 0.857142857 ENSG00000148204 chr9:123375290-123375290;G/A missense_variant False CPT2@p.T589M 1 0.297029703 ENSG00000157184 chr1:53213384-53213384;C/T missense_variant False CPT2@p.E527K 1 0.25 ENSG00000157184 chr1:53211253-53211253;G/A missense_variant False CPT2@p.E514Q 1 0.113636364 ENSG00000157184 chr1:53211214-53211214;G/C missense_variant False CPNE1@p.E240K 1 0.231578947 ENSG00000214078 chr20:35631351-35631351;C/T missense_variant False CPNE1@p.S511L 1 0.236966825 ENSG00000214078 chr20:35626323-35626323;G/A missense_variant False CPNE1@p.R147T 1 0.254901961 ENSG00000214078 chr20:35632179-35632179;C/G missense_variant False CPNE1@p.K84N 1 0.137096774 ENSG00000214078 chr20:35632574-35632574;C/A missense_variant False CPNE1@p.K529E 1 0.307909605 ENSG00000214078 chr20:35626270-35626270;T/C missense_variant False CPNE1@p.G45V 1 0.262711864 ENSG00000214078 chr20:35632692-35632692;C/A missense_variant False CPNE1@p.G297A 1 0.125 ENSG00000214078 chr20:35631006-35631006;C/G missense_variant False CPN2@p.S528T 1 0.117647059 ENSG00000178772 chr3:194341120-194341120;C/G missense_variant False CPN1@p.Q252R 1 0.120481928 ENSG00000120054 chr10:100065192-100065192;T/C missense_variant False CPN2@p.S520C 1 0.117647059 ENSG00000178772 chr3:194341145-194341145;T/A missense_variant False CPN2@p.P90L 1 0.116666667 ENSG00000178772 chr3:194342434-194342434;G/A missense_variant False CPN2@p.I325V 1 0.285714286 ENSG00000178772 chr3:194341730-194341730;T/C missense_variant False CPN2@p.E474D 1 0.19266055 ENSG00000178772 chr3:194341281-194341281;T/A missense_variant False CPN2@p.E378K 1 0.375796178 ENSG00000178772 chr3:194341571-194341571;C/T missense_variant False CPN2@p.A204S 1 0.151515152 ENSG00000178772 chr3:194342093-194342093;C/A missense_variant False CPNE2@p.D323N 1 0.29787234 ENSG00000140848 chr16:57125899-57125899;G/A missense_variant False CPNE2@p.S545W 1 0.346153846 ENSG00000140848 chr16:57147645-57147645;C/G missense_variant False CPNE2@p.Y294C 1 0.474576271 ENSG00000140848 chr16:57123427-57123427;A/G missense_variant False CPNE3@p.F194S 1 0.07037037 ENSG00000085719 chr8:86540282-86540282;T/C missense_variant False CPNE3@p.N443K 1 0.488372093 ENSG00000085719 chr8:86556176-86556176;T/G missense_variant False CPNE3@p.P308A 1 0.234042553 ENSG00000085719 chr8:86548343-86548343;C/G missense_variant False CPNE3@p.S260R 1 0.175 ENSG00000085719 chr8:86546642-86546642;C/G missense_variant False CPNE3@p.S445F 1 0.428571429 ENSG00000085719 chr8:86556181-86556181;C/T missense_variant False CPNE4@p.E158Q 1 0.551470588 ENSG00000196353 chr3:131696577-131696577;C/G missense_variant False CPNE4@p.N276K 1 0.455696203 ENSG00000196353 chr3:131581618-131581618;A/C missense_variant False CPNE4@p.S374F 1 0.294117647 ENSG00000196353 chr3:131552487-131552487;G/A missense_variant False CPNE5@p.E170K 1 0.088888889 ENSG00000124772 chr6:36792053-36792053;C/T missense_variant False CPNE6@p.D173H 1 0.252525253 ENSG00000100884 chr14:24074549-24074549;G/C missense_variant False CPNE6@p.D478Y 1 0.102803738 ENSG00000100884 chr14:24077286-24077286;G/T missense_variant False CPNE7@p.E297D 1 0.571428571 ENSG00000178773 chr16:89585538-89585538;G/C missense_variant False CPNE7@p.T518M 1 0.130434783 ENSG00000178773 chr16:89595392-89595392;C/T missense_variant False CPNE8@p.A399T 1 0.072727273 ENSG00000139117 chr12:38685566-38685566;C/T missense_variant False CPN1@p.S212L 1 0.1 ENSG00000120054 chr10:100065312-100065312;G/A missense_variant False CPN1@p.E41Q 1 0.360655738 ENSG00000120054 chr10:100081505-100081505;C/G missense_variant False CPNE8@p.K230R 1 0.293577982 ENSG00000139117 chr12:38760880-38760880;T/C missense_variant False CPEB4@p.S199L 1 0.189873418 ENSG00000113742 chr5:173890329-173890329;C/T missense_variant False CPED1@p.R975G 1 0.153846154 ENSG00000106034 chr7:121295494-121295494;A/G missense_variant False CPED1@p.P634A 1 0.858974359 ENSG00000106034 chr7:121141986-121141986;C/G missense_variant False CPED1@p.N507H 1 0.463768116 ENSG00000106034 chr7:121130236-121130236;A/C missense_variant False CPED1@p.M515I 1 0.407407407 ENSG00000106034 chr7:121130262-121130262;G/A missense_variant False CPED1@p.L918F 1 0.185185185 ENSG00000106034 chr7:121271316-121271316;G/C missense_variant False CPED1@p.L672M 1 0.29787234 ENSG00000106034 chr7:121142100-121142100;C/A missense_variant False CPEB4@p.Q71E 1 0.577777778 ENSG00000113742 chr5:173889944-173889944;C/G missense_variant False CPN1@p.E304Q 1 0.206030151 ENSG00000120054 chr10:100057114-100057114;C/G missense_variant False CPEB3@p.T359S 1 0.230769231 ENSG00000107864 chr10:92192566-92192566;G/C missense_variant False CPEB3@p.S241Rfs*77 1 0.4 ENSG00000107864 chr10:92239618-92239628;GCGTGTTCCAG/- frameshift_variant False CPEB3@p.R435Q 1 0.272727273 ENSG00000107864 chr10:92145004-92145004;C/T missense_variant False CPEB2@p.R939Q 1 0.577181208 ENSG00000137449 chr4:15062223-15062223;G/A missense_variant False CPEB2@p.D698Y 1 0.12195122 ENSG00000137449 chr4:15017245-15017245;G/T missense_variant False CPEB1@p.W355C 1 0.087912088 ENSG00000214575 chr15:82553966-82553966;C/G missense_variant False CPED1@p.S290L 1 0.106666667 ENSG00000106034 chr7:121100045-121100045;C/T missense_variant False CPLANE1@p.D2890N 1 0.121212121 ENSG00000197603 chr5:37125372-37125372;C/T missense_variant False CPLANE1@p.E2719K 1 0.597222222 ENSG00000197603 chr5:37153796-37153796;C/T missense_variant False CPLANE1@p.F2661L 1 0.46 ENSG00000197603 chr5:37153968-37153968;G/C missense_variant False CPLANE1@p.G3062V 1 0.564102564 ENSG00000197603 chr5:37115013-37115013;C/A missense_variant False CPLANE1@p.R2894I 1 0.218045113 ENSG00000197603 chr5:37125359-37125359;C/A missense_variant False CPLANE1@p.R2962Q 1 0.2 ENSG00000197603 chr5:37121755-37121755;C/T missense_variant False CPLANE1@p.S2538L 1 0.32 ENSG00000197603 chr5:37162542-37162542;G/A missense_variant False CPLANE1@p.V2627I 1 0.122222222 ENSG00000197603 chr5:37157748-37157748;C/T missense_variant False CPLANE2@p.E254K 1 0.255813953 ENSG00000132881 chr1:16232065-16232065;C/T missense_variant False CPLX1@p.E79K 1 0.483870968 ENSG00000168993 chr4:786671-786671;C/T missense_variant False CPLX2@p.G92R 1 0.272727273 ENSG00000145920 chr5:175879914-175879914;G/C missense_variant False CPLX3@p.D28N 1 0.652173913 ENSG00000213578 chr15:74826785-74826785;G/A missense_variant False CPLX3@p.R41L 1 0.178571429 ENSG00000213578 chr15:74826825-74826825;G/T missense_variant False CPM@p.F441L 1 0.217391304 ENSG00000135678 chr12:68856448-68856448;A/G missense_variant False CPM@p.G143E 1 0.160305344 ENSG00000135678 chr12:68871787-68871787;C/T missense_variant False CPM@p.L437V 1 0.135416667 ENSG00000135678 chr12:68856460-68856460;G/C missense_variant False CPNE8@p.F415I 1 0.175925926 ENSG00000139117 chr12:38685518-38685518;A/T missense_variant False CPNE8@p.R542P 1 0.109090909 ENSG00000139117 chr12:38653952-38653952;C/G missense_variant False CPT2@p.D125H 1 0.34751773 ENSG00000157184 chr1:53210047-53210047;G/C missense_variant False CPSF6@p.G233A 1 0.415384615 ENSG00000111605 chr12:69258593-69258593;G/C missense_variant False CPT1A@p.G212S 1 0.245614035 ENSG00000110090 chr11:68799277-68799277;C/T missense_variant False CPT1A@p.D698H 1 0.484848485 ENSG00000110090 chr11:68760275-68760275;C/G missense_variant False CPSF6@p.S500T 1 0.215686275 ENSG00000111605 chr12:69262402-69262402;G/C missense_variant False CPSF6@p.R326C 1 0.23255814 ENSG00000111605 chr12:69258871-69258871;C/T missense_variant False CPSF6@p.P291T 1 0.131868132 ENSG00000111605 chr12:69258766-69258766;C/A missense_variant False CPSF6@p.G248_P253del 1 0.154761905 ENSG00000111605 chr12:69258619-69258636;GGTCCTCCAGGCCCACCT/- inframe_deletion False CPSF4@p.R144Q 1 0.131313131 ENSG00000160917 chr7:99450729-99450729;G/A missense_variant False CPSF3@p.F305L 1 0.22826087 ENSG00000119203 chr2:9440645-9440645;C/G missense_variant False CPSF4@p.E241K 1 0.117647059 ENSG00000160917 chr7:99454116-99454116;G/A missense_variant False CPSF4@p.E170Q 1 0.239193084 ENSG00000160917 chr7:99452378-99452378;G/C missense_variant False CPSF3@p.Y270C 1 0.304347826 ENSG00000119203 chr2:9440539-9440539;A/G missense_variant False CPSF3@p.R407C 1 0.343137255 ENSG00000119203 chr2:9443638-9443638;C/T missense_variant False CPSF3@p.L30I 1 0.52173913 ENSG00000119203 chr2:9428802-9428802;C/A missense_variant False CPSF3@p.H316Y 1 0.494382022 ENSG00000119203 chr2:9441827-9441827;C/T missense_variant False CPT1A@p.K772R 1 0.609756098 ENSG00000110090 chr11:68757651-68757651;T/C missense_variant False CPT1A@p.M648I 1 0.068181818 ENSG00000110090 chr11:68761619-68761619;C/A missense_variant False CPT1A@p.R45K 1 0.347368421 ENSG00000110090 chr11:68815341-68815341;C/T missense_variant False CPT1A@p.R749C 1 0.085106383 ENSG00000110090 chr11:68757721-68757721;G/A missense_variant False CPT1B@p.G622R 1 0.148148148 ENSG00000205560 chr22:50571169-50571169;C/T missense_variant False CPT1B@p.V335M 1 0.285714286 ENSG00000205560 chr22:50573683-50573683;C/T missense_variant False CPT1C@p.A384G 1 0.388888889 ENSG00000169169 chr19:49706095-49706095;C/G missense_variant False CPT1C@p.D78H 1 0.304347826 ENSG00000169169 chr19:49697416-49697416;G/C missense_variant False CPT1C@p.E20Q 1 0.170212766 ENSG00000169169 chr19:49692310-49692310;G/C missense_variant False CPT1C@p.F594L 1 0.101010101 ENSG00000169169 chr19:49710773-49710773;C/A missense_variant False CPT1C@p.G765E 1 0.195945946 ENSG00000169169 chr19:49713487-49713487;G/A missense_variant False CPT1C@p.R364K 1 0.234693878 ENSG00000169169 chr19:49706035-49706035;G/A missense_variant False CPT1C@p.S34C 1 0.178571429 ENSG00000169169 chr19:49692353-49692353;C/G missense_variant False CPT1C@p.T601M 1 0.269662921 ENSG00000169169 chr19:49710793-49710793;C/T missense_variant False CPT1C@p.V468Gfs*62 1 0.4 ENSG00000169169 chr19:49707577-49707577;T/- frameshift_variant False CPT1C@p.W226C 1 0.409090909 ENSG00000169169 chr19:49701619-49701619;G/C missense_variant False CPT2@p.A240S 1 0.166666667 ENSG00000157184 chr1:53210392-53210392;G/T missense_variant False CPSF3@p.G335A 1 0.2625 ENSG00000119203 chr2:9441885-9441885;G/C missense_variant False CPSF2@p.S548F 1 0.257142857 ENSG00000165934 chr14:92157706-92157706;C/T missense_variant False CPNE8@p.S428F 1 0.326086957 ENSG00000139117 chr12:38677543-38677543;G/A missense_variant False CPO@p.R140S 1 0.163265306 ENSG00000144410 chr2:206959678-206959678;G/C missense_variant False CPQ@p.D72H 1 0.124137931 ENSG00000104324 chr8:96785111-96785111;G/C missense_variant False CPQ@p.D238H 1 0.259541985 ENSG00000104324 chr8:96879868-96879868;G/C missense_variant False CPOX@p.S177F 1 0.230769231 ENSG00000080819 chr3:98592975-98592975;G/A missense_variant False CPOX@p.L288F 1 0.382978723 ENSG00000080819 chr3:98588802-98588802;C/A missense_variant False CPOX@p.I337M 1 0.078431373 ENSG00000080819 chr3:98585602-98585602;G/C missense_variant False CPOX@p.D341N 1 0.305555556 ENSG00000080819 chr3:98585592-98585592;C/T missense_variant False CPO@p.L270F 1 0.578125 ENSG00000144410 chr2:206968295-206968295;G/C missense_variant False CPSF2@p.E650K 1 0.278481013 ENSG00000165934 chr14:92159109-92159109;G/A missense_variant False CPNE9@p.G294E 1 0.461538462 ENSG00000144550 chr3:9716032-9716032;G/A missense_variant False CPNE9@p.G213E 1 0.239130435 ENSG00000144550 chr3:9713067-9713067;G/A missense_variant False CPNE9@p.F164L 1 0.044585987 ENSG00000144550 chr3:9712775-9712775;C/A missense_variant False CPNE9@p.E467Q 1 0.317073171 ENSG00000144550 chr3:9726719-9726719;G/C missense_variant False CPNE9@p.E285K 1 0.416666667 ENSG00000144550 chr3:9716004-9716004;G/A missense_variant False CPNE8@p.S42C 1 0.06122449 ENSG00000139117 chr12:38874485-38874485;G/C missense_variant False CPQ@p.E240K 1 0.110671937 ENSG00000104324 chr8:96879874-96879874;G/A missense_variant False CPS1@p.A479V 1 0.45 ENSG00000021826 chr2:210599448-210599448;C/T missense_variant False CPS1@p.D1289G 1 0.819047619 ENSG00000021826 chr2:210660594-210660594;A/G missense_variant False CPS1@p.D859N 1 0.21875 ENSG00000021826 chr2:210616429-210616429;G/A missense_variant False CPS1@p.I1236V 1 0.113207547 ENSG00000021826 chr2:210658638-210658638;A/G missense_variant False CPS1@p.L1128F 1 0.218181818 ENSG00000021826 chr2:210648520-210648520;G/C missense_variant False CPS1@p.P1407L 1 0.514285714 ENSG00000021826 chr2:210675786-210675786;C/T missense_variant False CPS1@p.P563L 1 0.268115942 ENSG00000021826 chr2:210600693-210600693;C/T missense_variant False CPS1@p.R12S 1 0.12962963 ENSG00000021826 chr2:210556769-210556769;G/C missense_variant False CPS1@p.S819C 1 0.251968504 ENSG00000021826 chr2:210612181-210612181;C/G missense_variant False CPS1@p.V242A 1 0.49068323 ENSG00000021826 chr2:210590119-210590119;T/C missense_variant False CPSF1@p.D264H 1 0.351351351 ENSG00000071894 chr8:144400390-144400390;C/G missense_variant False CPSF1@p.E730K 1 0.1 ENSG00000071894 chr8:144397765-144397765;C/T missense_variant False CPSF1@p.H897Y 1 0.317708333 ENSG00000071894 chr8:144396735-144396735;G/A missense_variant False CPSF1@p.P688L 1 0.088888889 ENSG00000071894 chr8:144397964-144397964;G/A missense_variant False CPSF1@p.R958Q 1 0.5 ENSG00000071894 chr8:144396454-144396454;C/T missense_variant False CPSF1@p.S881F 1 0.218181818 ENSG00000071894 chr8:144396880-144396880;G/A missense_variant False CREBBP@p.G2381V 1 0.276315789 ENSG00000005339 chr16:3727905-3727905;C/A missense_variant True CREBBP@p.K1180N 1 0.558139535 ENSG00000005339 chr16:3757878-3757878;C/G missense_variant True CSMD1@p.V769D 1 0.76 ENSG00000183117 chr8:3399493-3399493;A/T missense_variant False CRYZ@p.R138L 1 0.25 ENSG00000116791 chr1:74719224-74719224;C/A missense_variant False CS@p.Q250E 1 0.283333333 ENSG00000062485 chr12:56276036-56276036;G/C missense_variant False CS@p.P355L 1 0.386363636 ENSG00000062485 chr12:56273753-56273753;G/A missense_variant False CS@p.E117D 1 0.46969697 ENSG00000062485 chr12:56282908-56282908;C/A missense_variant False CRYZL1@p.R342T 1 0.675675676 ENSG00000205758 chr21:33589847-33589847;C/G missense_variant False CRYZL1@p.E121K 1 0.204545455 ENSG00000205758 chr21:33603508-33603508;C/T missense_variant False CRYZL1@p.D58Gfs*27 1 0.107438017 ENSG00000205758 chr21:33622042-33622043;-/T frameshift_variant False CRYZ@p.D207N 1 0.236842105 ENSG00000116791 chr1:74710109-74710109;C/T missense_variant False CSAD@p.S155C 1 0.261904762 ENSG00000139631 chr12:53171429-53171429;G/C missense_variant False CRYM@p.L76S 1 0.153846154 ENSG00000103316 chr16:21277528-21277528;A/G missense_variant False CRYM@p.F79L 1 0.761904762 ENSG00000103316 chr16:21277518-21277518;G/C missense_variant False CRYL1@p.E163Q 1 0.4 ENSG00000165475 chr13:20432248-20432248;C/G missense_variant False CRYGS@p.S82C 1 0.118644068 ENSG00000213139 chr3:186539374-186539374;G/C missense_variant False CRYGS@p.E43G 1 0.382352941 ENSG00000213139 chr3:186539491-186539491;T/C missense_variant False CRYGN@p.P87H 1 0.226666667 ENSG00000127377 chr7:151438006-151438006;G/T missense_variant False CS@p.R256C 1 0.392156863 ENSG00000062485 chr12:56276018-56276018;G/A missense_variant False CSAG1@p.G76C 1 0.637931034 ENSG00000198930 chrX:152727805-152727805;C/A missense_variant False CREBBP@p.K622Wfs*2 1 0.25 ENSG00000005339 chr16:3778756-3778777;GGTTTTCCATGCGGCGATCCTT/- frameshift_variant True CSE1L@p.E30D 1 0.083333333 ENSG00000124207 chr20:49063206-49063206;G/C missense_variant False CSE1L@p.R372T 1 0.322033898 ENSG00000124207 chr20:49074833-49074833;G/C missense_variant False CSE1L@p.R372K 1 0.078947368 ENSG00000124207 chr20:49074833-49074833;G/A missense_variant False CSE1L@p.Q139H 1 0.123893805 ENSG00000124207 chr20:49066451-49066451;G/C missense_variant False CSE1L@p.L872F 1 0.108695652 ENSG00000124207 chr20:49094753-49094753;G/C missense_variant False CSE1L@p.F659C 1 0.482142857 ENSG00000124207 chr20:49089541-49089541;T/G missense_variant False CSE1L@p.E713K 1 0.06097561 ENSG00000124207 chr20:49089702-49089702;G/A missense_variant False CSE1L@p.D5N 1 0.158730159 ENSG00000124207 chr20:49058476-49058476;G/A missense_variant False CSAG2@p.K118R 1 0.404255319 ENSG00000268916 chrX:152708602-152708602;T/C missense_variant False CSDE1@p.R756P 1 0.104166667 ENSG00000009307 chr1:114718695-114718695;C/G missense_variant False CSDE1@p.R357K 1 0.134831461 ENSG00000009307 chr1:114730629-114730629;C/T missense_variant False CSDE1@p.P610S 1 0.406504065 ENSG00000009307 chr1:114723928-114723928;G/A missense_variant False CSDE1@p.L139V 1 0.465277778 ENSG00000009307 chr1:114736843-114736843;G/C missense_variant False CSDE1@p.D751N 1 0.274509804 ENSG00000009307 chr1:114718711-114718711;C/T missense_variant False CSDE1@p.A436Kfs*25 1 0.103448276 ENSG00000009307 chr1:114730290-114730308;TAGGATTGGAAAAAGTGGC/- frameshift_variant False CRYGB@p.S167C 1 0.589861751 ENSG00000182187 chr2:208142666-208142666;G/C missense_variant False CRYGB@p.E136D 1 0.314049587 ENSG00000182187 chr2:208142758-208142758;C/G missense_variant False CRYBG3@p.P2105S 1 0.494117647 ENSG00000080200 chr3:97877507-97877507;C/T missense_variant False CRYBG1@p.D1513H 1 0.178571429 ENSG00000112297 chr6:106527429-106527429;G/C missense_variant False CRYBG1@p.L717V 1 0.283018868 ENSG00000112297 chr6:106519357-106519357;C/G missense_variant False CRYBG1@p.K731N 1 0.3125 ENSG00000112297 chr6:106519401-106519401;G/C missense_variant False CRYBG1@p.K656N 1 0.261904762 ENSG00000112297 chr6:106519176-106519176;G/C missense_variant False CRYBG1@p.H1692Y 1 0.32 ENSG00000112297 chr6:106544605-106544605;C/T missense_variant False CRYBG1@p.H1665Y 1 0.232142857 ENSG00000112297 chr6:106543551-106543551;C/T missense_variant False CRYBG1@p.E1442K 1 0.391472868 ENSG00000112297 chr6:106525298-106525298;G/A missense_variant False CRYBB2@p.P115S 1 0.173913043 ENSG00000244752 chr22:25229472-25229472;C/T missense_variant False CRYBG3@p.K2234N 1 0.204081633 ENSG00000080200 chr3:97877896-97877896;G/C missense_variant False CRYBB1@p.W124C 1 0.25974026 ENSG00000100122 chr22:26607949-26607949;C/A missense_variant False CRYBB1@p.S2Y 1 0.493150685 ENSG00000100122 chr22:26616315-26616315;G/T missense_variant False CRYBB1@p.P45R 1 0.462686567 ENSG00000100122 chr22:26616186-26616186;G/C missense_variant False CRYBB1@p.L83P 1 0.195121951 ENSG00000100122 chr22:26612123-26612123;A/G missense_variant False CRYBA4@p.H182Y 1 0.5 ENSG00000196431 chr22:26630440-26630440;C/T missense_variant False CRYBA4@p.G82S 1 0.138888889 ENSG00000196431 chr22:26625566-26625566;G/A missense_variant False CRYBG1@p.Q1071E 1 0.183908046 ENSG00000112297 chr6:106520419-106520419;C/G missense_variant False CRYBG1@p.R1821G 1 0.15625 ENSG00000112297 chr6:106552205-106552205;A/G missense_variant False CRYBG1@p.S771C 1 0.171428571 ENSG00000112297 chr6:106519520-106519520;C/G missense_variant False CRYBG1@p.V1198I 1 0.469387755 ENSG00000112297 chr6:106520800-106520800;G/A missense_variant False CRYBG2@p.E327K 1 0.5 ENSG00000176092 chr1:26345679-26345679;C/T missense_variant False CRYBG2@p.E56Q 1 0.09375 ENSG00000176092 chr1:26346492-26346492;C/G missense_variant False CRYBG2@p.G1590Dfs*42 1 0.137254902 ENSG00000176092 chr1:26322292-26322292;C/- frameshift_variant False CRYBG2@p.G204C 1 0.461538462 ENSG00000176092 chr1:26346048-26346048;C/A missense_variant False CRYBG2@p.G204V 1 0.461538462 ENSG00000176092 chr1:26346047-26346047;C/A missense_variant False CRYBG2@p.Q120H 1 0.25 ENSG00000176092 chr1:26346298-26346298;C/G missense_variant False CRYBG2@p.S1062F 1 0.154929577 ENSG00000176092 chr1:26342773-26342773;G/A missense_variant False CRYBG2@p.S1466R 1 0.090909091 ENSG00000176092 chr1:26328790-26328790;G/C missense_variant False CRYBG3@p.E2151K 1 0.111111111 ENSG00000080200 chr3:97877645-97877645;G/A missense_variant False CRYBG3@p.E2578Q 1 0.303571429 ENSG00000080200 chr3:97898913-97898913;G/C missense_variant False CRYBG3@p.G2904R 1 0.287671233 ENSG00000080200 chr3:97942329-97942329;G/A missense_variant False CRYBG3@p.H2950D 1 0.161290323 ENSG00000080200 chr3:97943249-97943249;C/G missense_variant False CRYBG3@p.I2827T 1 0.381578947 ENSG00000080200 chr3:97936883-97936883;T/C missense_variant False CSF1@p.E265Q 1 0.0625 ENSG00000184371 chr1:109923414-109923414;G/C missense_variant False CSF1@p.E68Q 1 0.196428571 ENSG00000184371 chr1:109915673-109915673;G/C missense_variant False CSF1@p.M42I 1 0.178082192 ENSG00000184371 chr1:109914345-109914345;G/A missense_variant False CSMD1@p.A3134D 1 0.215384615 ENSG00000183117 chr8:2963278-2963278;G/T missense_variant False CSMD1@p.E603D 1 0.375 ENSG00000183117 chr8:3408164-3408164;C/A missense_variant False CSMD1@p.E3445Q 1 0.387096774 ENSG00000183117 chr8:2949371-2949371;C/G missense_variant False CSMD1@p.D2935Y 1 0.16 ENSG00000183117 chr8:2973240-2973240;C/A missense_variant False CSMD1@p.D2276N 1 0.225806452 ENSG00000183117 chr8:3107730-3107730;C/T missense_variant False CSMD1@p.C2900Y 1 0.24137931 ENSG00000183117 chr8:2974495-2974495;C/T missense_variant False CSMD1@p.A640T 1 0.173913043 ENSG00000183117 chr8:3408055-3408055;C/T missense_variant False CSKMT@p.Q146E 1 0.225 ENSG00000214756 chr11:62666764-62666764;C/G missense_variant False CSHL1@p.V30I 1 0.109375 ENSG00000204414 chr17:63910847-63910847;C/T missense_variant False CSKMT@p.P131L 1 0.157894737 ENSG00000214756 chr11:62666720-62666720;C/T missense_variant False CSKMT@p.E59K 1 0.36746988 ENSG00000214756 chr11:62666503-62666503;G/A missense_variant False CSK@p.R107W 1 0.387096774 ENSG00000103653 chr15:74799348-74799348;C/T missense_variant False CSK@p.F83L 1 0.060869565 ENSG00000103653 chr15:74799278-74799278;C/G missense_variant False CSK@p.E93K 1 0.379310345 ENSG00000103653 chr15:74799306-74799306;G/A missense_variant False CSK@p.E174Q 1 0.3 ENSG00000103653 chr15:74800469-74800469;G/C missense_variant False CSMD1@p.G1426R 1 0.363636364 ENSG00000183117 chr8:3230112-3230112;C/T missense_variant False CSMD1@p.G2206S 1 0.275862069 ENSG00000183117 chr8:3108744-3108744;C/T missense_variant False CSMD1@p.G2748V 1 0.659090909 ENSG00000183117 chr8:2998148-2998148;C/A missense_variant False CSMD1@p.H2929L 1 0.5 ENSG00000183117 chr8:2973257-2973257;T/A missense_variant False CSMD1@p.I740K 1 0.071428571 ENSG00000183117 chr8:3406077-3406077;A/T missense_variant False CSMD1@p.I788T 1 0.175675676 ENSG00000183117 chr8:3399436-3399436;A/G missense_variant False CSMD1@p.K1347N 1 0.411764706 ENSG00000183117 chr8:3284259-3284259;C/A missense_variant False CSMD1@p.L1260F 1 0.387755102 ENSG00000183117 chr8:3308358-3308358;C/G missense_variant False CSMD1@p.L771F 1 0.366666667 ENSG00000183117 chr8:3399486-3399486;C/A missense_variant False CSMD1@p.P3103L 1 0.057522124 ENSG00000183117 chr8:2963371-2963371;G/A missense_variant False CSMD1@p.P514S 1 0.388888889 ENSG00000183117 chr8:3468736-3468736;G/A missense_variant False CSMD1@p.R2887T 1 0.413793103 ENSG00000183117 chr8:2974534-2974534;C/G missense_variant False CSMD1@p.S3168C 1 0.35 ENSG00000183117 chr8:2962595-2962595;T/A missense_variant False CSMD1@p.S3478Y 1 0.25 ENSG00000183117 chr8:2942577-2942577;G/T missense_variant False CSMD1@p.V2656M 1 0.401069519 ENSG00000183117 chr8:3018543-3018543;C/T missense_variant False CSMD1@p.V3426E 1 0.047058824 ENSG00000183117 chr8:2950271-2950271;A/T missense_variant False CSMD1@p.V747F 1 0.32 ENSG00000183117 chr8:3406057-3406057;C/A missense_variant False CSK@p.D123N 1 0.189189189 ENSG00000103653 chr15:74799396-74799396;G/A missense_variant False CSHL1@p.D141N 1 0.285714286 ENSG00000204414 chr17:63910212-63910212;C/T missense_variant False CSF1@p.S345L 1 0.404255319 ENSG00000184371 chr1:109923655-109923655;C/T missense_variant False CSF1R@p.T37M 1 0.263157895 ENSG00000182578 chr5:150080964-150080964;G/A missense_variant True CSF2RA@p.R289T 1 0.2109375 ENSG00000292357 chrX:1300546-1300546;G/C missense_variant False CSF2RA@p.L2F 1 0.081081081 ENSG00000292357 chrX:1282707-1282707;C/T missense_variant False CSF2RA@p.D207V 1 0.375 ENSG00000292357 chrX:1290483-1290483;A/T missense_variant False CSF1R@p.Y61H 1 0.216216216 ENSG00000182578 chr5:150080893-150080893;A/G missense_variant True CSF1R@p.V838I 1 0.428571429 ENSG00000182578 chr5:150056068-150056068;C/T missense_variant True CSF1R@p.V115M 1 0.256097561 ENSG00000182578 chr5:150080301-150080301;C/T missense_variant True CSF1R@p.S405R 1 0.588235294 ENSG00000182578 chr5:150070288-150070288;T/G missense_variant True CSH1@p.T201I 1 0.053435115 ENSG00000213218 chr17:63895074-63895074;G/A missense_variant False CSF1R@p.Q911E 1 0.350877193 ENSG00000182578 chr5:150054354-150054354;G/C missense_variant True CSF1R@p.M726I 1 0.225806452 ENSG00000182578 chr5:150057547-150057547;C/T missense_variant True CSF1R@p.K33N 1 0.375 ENSG00000182578 chr5:150080975-150080975;C/A missense_variant True CSF1R@p.E554K 1 0.494047619 ENSG00000182578 chr5:150061816-150061816;C/T missense_variant True CSF1R@p.E443K 1 0.195652174 ENSG00000182578 chr5:150070056-150070056;C/T missense_variant True CSF1@p.V373A 1 0.364485981 ENSG00000184371 chr1:109923739-109923739;T/C missense_variant False CSF2RA@p.S125C 1 0.396428571 ENSG00000292357 chrX:1288789-1288789;C/G missense_variant False CSF2RA@p.Y111H 1 0.06557377 ENSG00000292357 chrX:1288630-1288630;T/C missense_variant False CSF2RB@p.P830L 1 0.573033708 ENSG00000100368 chr22:36938297-36938297;C/T missense_variant False CSF2RB@p.S568Afs*130 1 0.151515152 ENSG00000100368 chr22:36937504-36937504;C/- frameshift_variant False CSF2RB@p.S9Y 1 0.764705882 ENSG00000100368 chr22:36922233-36922233;C/A missense_variant False CSF3@p.T149I 1 0.460176991 ENSG00000108342 chr17:40016618-40016618;C/T missense_variant False CSF3R@p.E553K 1 0.261261261 ENSG00000119535 chr1:36468141-36468141;C/T missense_variant False CSF3R@p.E679K 1 0.454545455 ENSG00000119535 chr1:36467235-36467235;C/T missense_variant False CSF3R@p.Q197H 1 0.142857143 ENSG00000119535 chr1:36473517-36473517;C/G missense_variant False CSF3R@p.S469Qfs*5 1 0.371428571 ENSG00000119535 chr1:36469721-36469722;-/G frameshift_variant False CSF3R@p.V518I 1 0.21875 ENSG00000119535 chr1:36469180-36469180;C/T missense_variant False CSGALNACT1@p.Q525H 1 0.365217391 ENSG00000147408 chr8:19405804-19405804;C/G missense_variant False CSGALNACT2@p.E201K 1 0.284671533 ENSG00000169826 chr10:43155750-43155750;G/A missense_variant False CSGALNACT2@p.E91Q 1 0.160714286 ENSG00000169826 chr10:43155420-43155420;G/C missense_variant False CSGALNACT2@p.K113T 1 0.194444444 ENSG00000169826 chr10:43155487-43155487;A/C missense_variant False CSGALNACT2@p.P413S 1 0.230769231 ENSG00000169826 chr10:43167081-43167081;C/T missense_variant False CSGALNACT2@p.Q69H 1 0.388888889 ENSG00000169826 chr10:43155356-43155356;G/C missense_variant False CRYBA4@p.E32Q 1 0.158730159 ENSG00000196431 chr22:26623288-26623288;G/C missense_variant False CRYBA4@p.A31V 1 0.368715084 ENSG00000196431 chr22:26623286-26623286;C/T missense_variant False CRYBA2@p.P128S 1 0.145985401 ENSG00000163499 chr2:218990916-218990916;G/A missense_variant False CRISP3@p.L194V 1 0.187214612 ENSG00000096006 chr6:49733229-49733229;G/C missense_variant False CRISPLD1@p.G350D 1 0.3375 ENSG00000121005 chr8:75017372-75017372;G/A missense_variant False CRISPLD1@p.A122V 1 0.094594595 ENSG00000121005 chr8:75012539-75012539;C/T missense_variant False CRISP3@p.W147L 1 0.246575342 ENSG00000096006 chr6:49733779-49733779;C/A missense_variant False CRISP3@p.P36L 1 0.157894737 ENSG00000096006 chr6:49737383-49737383;G/A missense_variant False CRISP3@p.N270S 1 0.129251701 ENSG00000096006 chr6:49728752-49728752;T/C missense_variant False CRISP3@p.M32I 1 0.375 ENSG00000096006 chr6:49737394-49737394;C/T missense_variant False CRISP1@p.Y81N 1 0.183486239 ENSG00000124812 chr6:49848254-49848254;A/T missense_variant False CRIM1@p.E894K 1 0.418181818 ENSG00000150938 chr2:36544432-36544432;G/A missense_variant False CRISP1@p.E91Q 1 0.149253731 ENSG00000124812 chr6:49848224-49848224;C/G missense_variant False CRISP1@p.D136H 1 0.084337349 ENSG00000124812 chr6:49846549-49846549;C/G missense_variant False CRIP2@p.I181M 1 0.175257732 ENSG00000182809 chr14:105479477-105479477;C/G missense_variant False CRIP2@p.G49W 1 0.294117647 ENSG00000182809 chr14:105478456-105478456;G/T missense_variant False CRIM1@p.V337I 1 0.265306122 ENSG00000150938 chr2:36476906-36476906;G/A missense_variant False CRIM1@p.Q962H 1 0.11627907 ENSG00000150938 chr2:36547123-36547123;G/C missense_variant False CRISPLD1@p.Q477H 1 0.135135135 ENSG00000121005 chr8:75029497-75029497;G/C missense_variant False CRISPLD1@p.R73Q 1 0.476190476 ENSG00000121005 chr8:74986205-74986205;G/A missense_variant False CRISPLD1@p.S176R 1 0.25 ENSG00000121005 chr8:75014004-75014004;T/A missense_variant False CRISPLD2@p.P26R 1 0.203125 ENSG00000103196 chr16:84838572-84838572;C/G missense_variant False CRISPLD2@p.S279C 1 0.277777778 ENSG00000103196 chr16:84867023-84867023;C/G missense_variant False CRK@p.D157N 1 0.3 ENSG00000167193 chr17:1436928-1436928;C/T missense_variant False CRK@p.D95H 1 0.107692308 ENSG00000167193 chr17:1437114-1437114;C/G missense_variant False CRK@p.E132Q 1 0.259615385 ENSG00000167193 chr17:1437003-1437003;C/G missense_variant False CRK@p.E148Q 1 0.045045045 ENSG00000167193 chr17:1436955-1436955;C/G missense_variant False CRKL@p.R21C 1 0.412698413 ENSG00000099942 chr22:20917995-20917995;C/T missense_variant False CRLF1@p.D283H 1 0.25 ENSG00000006016 chr19:18596900-18596900;C/G missense_variant False CRLF1@p.E186K 1 0.110576923 ENSG00000006016 chr19:18598573-18598573;C/T missense_variant False CRLF1@p.G247R 1 0.230769231 ENSG00000006016 chr19:18597008-18597008;C/T missense_variant False CRLF1@p.W327C 1 0.230769231 ENSG00000006016 chr19:18596665-18596665;C/G missense_variant False CRLF3@p.D151N 1 0.48245614 ENSG00000176390 chr17:30796312-30796312;C/T missense_variant False CRLF3@p.R289Q 1 0.221698113 ENSG00000176390 chr17:30792533-30792533;C/T missense_variant False CRLF3@p.W199S 1 0.50955414 ENSG00000176390 chr17:30796167-30796167;C/G missense_variant False CRIM1@p.E898K 1 0.117647059 ENSG00000150938 chr2:36544444-36544444;G/A missense_variant False CRIM1@p.E757K 1 0.142857143 ENSG00000150938 chr2:36522154-36522154;G/A missense_variant False CRMP1@p.A60V 1 0.447761194 ENSG00000072832 chr4:5861160-5861160;G/A missense_variant False CREBBP@p.R1964C 1 0.4 ENSG00000005339 chr16:3729157-3729157;G/A missense_variant True CREBBP@p.Y1503C 1 0.360824742 ENSG00000005339 chr16:3736702-3736702;T/C missense_variant True CREBBP@p.V694L 1 0.179245283 ENSG00000005339 chr16:3778044-3778044;C/G missense_variant True CREBBP@p.S1687F 1 0.391304348 ENSG00000005339 chr16:3731304-3731304;G/A missense_variant True CREBBP@p.S1680del 1 0.239316239 ENSG00000005339 chr16:3731323-3731325;AGG/- inframe_deletion True CREBBP@p.S1436N 1 0.772727273 ENSG00000005339 chr16:3738646-3738646;C/T missense_variant True CREBBP@p.R2194Cfs*104 1 0.322580645 ENSG00000005339 chr16:3728455-3728467;GCAGCTGCCTCCG/- frameshift_variant True CREBBP@p.R1664C 1 0.35 ENSG00000005339 chr16:3731374-3731374;G/A missense_variant True CRIM1@p.E711Q 1 0.117647059 ENSG00000150938 chr2:36517467-36517467;G/C missense_variant False CREBBP@p.R1446L 1 0.3125 ENSG00000005339 chr16:3738616-3738616;C/A missense_variant True CREBBP@p.R1446C 1 0.222222222 ENSG00000005339 chr16:3738617-3738617;G/A missense_variant True CREBBP@p.Q1002Kfs*20 1 0.307692308 ENSG00000005339 chr16:3769230-3769230;G/- frameshift_variant True CREBBP@p.N681Efs*45 1 0.226950355 ENSG00000005339 chr16:3778083-3778084;-/C frameshift_variant True CREBBP@p.M721I 1 0.261904762 ENSG00000005339 chr16:3774689-3774689;C/T missense_variant True CREBBP@p.L1434R 1 0.294117647 ENSG00000005339 chr16:3738652-3738652;A/C missense_variant True CREBL2@p.R34W 1 0.444444444 ENSG00000111269 chr12:12635861-12635861;C/T missense_variant False CREBRF@p.D599H 1 0.64893617 ENSG00000164463 chr5:173123193-173123193;G/C missense_variant False CREBRF@p.E356D 1 0.294117647 ENSG00000164463 chr5:173091247-173091247;A/T missense_variant False CREBRF@p.Q497H 1 0.3 ENSG00000164463 chr5:173110595-173110595;G/C missense_variant False CREBRF@p.R249W 1 0.26 ENSG00000164463 chr5:173090924-173090924;C/T missense_variant False CREBRF@p.S425L 1 0.234375 ENSG00000164463 chr5:173108675-173108675;C/T missense_variant False CREG1@p.P121S 1 0.15 ENSG00000143162 chr1:167548115-167548115;G/A missense_variant False CRELD1@p.E325K 1 0.15 ENSG00000163703 chr3:9943440-9943440;G/A missense_variant False CRELD1@p.E357K 1 0.112 ENSG00000163703 chr3:9944385-9944385;G/A missense_variant False CRELD1@p.E61Q 1 0.291666667 ENSG00000163703 chr3:9934841-9934841;G/C missense_variant False CRELD2@p.E325K 1 0.349206349 ENSG00000184164 chr22:49925521-49925521;G/A missense_variant False CREM@p.E113Q 1 0.416666667 ENSG00000095794 chr10:35178958-35178958;G/C missense_variant False CRHBP@p.S234L 1 0.19266055 ENSG00000145708 chr5:76963350-76963350;C/T missense_variant False CRHR2@p.I338M 1 0.4453125 ENSG00000106113 chr7:30655619-30655619;G/C missense_variant False CRIM1@p.C84S 1 0.123287671 ENSG00000150938 chr2:36356543-36356543;G/C missense_variant False CRIM1@p.D282Y 1 0.108333333 ENSG00000150938 chr2:36442710-36442710;G/T missense_variant False CRIM1@p.D779Y 1 0.230769231 ENSG00000150938 chr2:36522220-36522220;G/T missense_variant False CRMP1@p.A369V 1 0.323809524 ENSG00000072832 chr4:5836769-5836769;G/A missense_variant False CRMP1@p.G332C 1 0.320512821 ENSG00000072832 chr4:5836881-5836881;C/A missense_variant False CRYBA2@p.A6_A10del 1 0.388888889 ENSG00000163499 chr2:218993148-218993162;GCCGGGCCCGGCGCG/- inframe_deletion False CRTC2@p.D330H 1 0.183333333 ENSG00000160741 chr1:153952027-153952027;C/G missense_variant False CRTC2@p.V494L 1 0.11299435 ENSG00000160741 chr1:153949309-153949309;C/G missense_variant False CRTC2@p.R659H 1 0.258823529 ENSG00000160741 chr1:153948215-153948215;C/T missense_variant False CRTC2@p.Q513E 1 0.489361702 ENSG00000160741 chr1:153949252-153949252;G/C missense_variant False CRTC2@p.L573V 1 0.072463768 ENSG00000160741 chr1:153948602-153948602;G/C missense_variant False CRTC2@p.G48C 1 0.421052632 ENSG00000160741 chr1:153958356-153958356;C/A missense_variant False CRTC2@p.E41Q 1 0.727272727 ENSG00000160741 chr1:153958377-153958377;C/G missense_variant False CRTC1@p.S326L 1 0.251572327 ENSG00000105662 chr19:18765494-18765494;C/T missense_variant False CRTAC1@p.G78A 1 0.24137931 ENSG00000095713 chr10:97936358-97936358;C/G missense_variant False CRTC1@p.L235V 1 0.3875 ENSG00000105662 chr19:18760045-18760045;C/G missense_variant False CRTC1@p.E190D 1 0.226973684 ENSG00000105662 chr19:18753531-18753531;G/C missense_variant False CRTC1@p.A494V 1 0.203389831 ENSG00000105662 chr19:18774955-18774955;C/T missense_variant False CRTAM@p.Q80E 1 0.129032258 ENSG00000109943 chr11:122851737-122851737;C/G missense_variant False CRTAM@p.H353R 1 0.204225352 ENSG00000109943 chr11:122871275-122871275;A/G missense_variant False CRTAC1@p.R178C 1 0.626666667 ENSG00000095713 chr10:97923290-97923290;G/A missense_variant False CRTC3@p.E611K 1 0.28125 ENSG00000140577 chr15:90642111-90642111;G/A missense_variant False CRTC3@p.M507I 1 0.144927536 ENSG00000140577 chr15:90638788-90638788;G/A missense_variant False CRTC3@p.P350S 1 0.226130653 ENSG00000140577 chr15:90629314-90629314;C/T missense_variant False CRTC3@p.Q46E 1 0.333333333 ENSG00000140577 chr15:90540042-90540042;C/G missense_variant False CRTC3@p.R116Q 1 0.208333333 ENSG00000140577 chr15:90593751-90593751;G/A missense_variant False CRTC3@p.S289F 1 0.190391459 ENSG00000140577 chr15:90625892-90625892;C/T missense_variant False CRTC3@p.T412N 1 0.275 ENSG00000140577 chr15:90629501-90629501;C/A missense_variant False CRX@p.A260T 1 0.292479109 ENSG00000105392 chr19:47839845-47839845;G/A missense_variant False CRX@p.D130N 1 0.296 ENSG00000105392 chr19:47839455-47839455;G/A missense_variant False CRX@p.E173Q 1 0.339622642 ENSG00000105392 chr19:47839584-47839584;G/C missense_variant False CRY1@p.L148V 1 0.267326733 ENSG00000008405 chr12:107001917-107001917;G/C missense_variant False CRY2@p.D326H 1 0.287671233 ENSG00000121671 chr11:45869599-45869599;G/C missense_variant False CRY2@p.P338S 1 0.222222222 ENSG00000121671 chr11:45869635-45869635;C/T missense_variant False CRY2@p.R171H 1 0.324324324 ENSG00000121671 chr11:45860892-45860892;G/A missense_variant False CRY2@p.S538L 1 0.318181818 ENSG00000121671 chr11:45870905-45870905;C/T missense_variant False CRY2@p.W249C 1 0.260869565 ENSG00000121671 chr11:45867617-45867617;G/C missense_variant False CRYBA1@p.G166R 1 0.4 ENSG00000108255 chr17:29253778-29253778;G/A missense_variant False CRTAC1@p.L321V 1 0.416107383 ENSG00000095713 chr10:97904704-97904704;G/C missense_variant False CRPPA@p.V187A 1 0.342857143 ENSG00000214960 chr7:16376216-16376216;A/G missense_variant False CRMP1@p.L204F 1 0.226190476 ENSG00000072832 chr4:5849401-5849401;C/G missense_variant False CRNKL1@p.E545K 1 0.079136691 ENSG00000101343 chr20:20042339-20042339;C/T missense_variant False CRNKL1@p.R532H 1 0.398601399 ENSG00000101343 chr20:20042377-20042377;C/T missense_variant False CRNKL1@p.P814T 1 0.130952381 ENSG00000101343 chr20:20036302-20036302;G/T missense_variant False CRNKL1@p.M287I 1 0.119565217 ENSG00000101343 chr20:20048420-20048420;C/A missense_variant False CRNKL1@p.I644F 1 0.481132075 ENSG00000101343 chr20:20039707-20039707;T/A missense_variant False CRNKL1@p.G467S 1 0.317829457 ENSG00000101343 chr20:20043548-20043548;C/T missense_variant False CRNKL1@p.E763Kfs*12 1 0.229249012 ENSG00000101343 chr20:20037416-20037416;T/- frameshift_variant False CRNKL1@p.E459Q 1 0.042016807 ENSG00000101343 chr20:20043572-20043572;C/G missense_variant False CRPPA@p.Q386E 1 0.16 ENSG00000214960 chr7:16216161-16216161;G/C missense_variant False CRNKL1@p.D840H 1 0.155405405 ENSG00000101343 chr20:20036224-20036224;C/G missense_variant False CRNKL1@p.D222N 1 0.189189189 ENSG00000101343 chr20:20050493-20050493;C/T missense_variant False CRNKL1@p.D216Y 1 0.274193548 ENSG00000101343 chr20:20050511-20050511;C/A missense_variant False CRMP1@p.V302M 1 0.636363636 ENSG00000072832 chr4:5839586-5839586;C/T missense_variant False CRMP1@p.L97V 1 0.179245283 ENSG00000072832 chr4:5861050-5861050;G/C missense_variant False CRMP1@p.L97P 1 0.182692308 ENSG00000072832 chr4:5861049-5861049;A/G missense_variant False CRNN@p.G129W 1 0.040650407 ENSG00000143536 chr1:152410697-152410697;C/A missense_variant False CRNN@p.R484K 1 0.367346939 ENSG00000143536 chr1:152409631-152409631;C/T missense_variant False CROCC@p.D1907Y 1 0.545454545 ENSG00000058453 chr1:16970702-16970702;G/T missense_variant False CROCC@p.E1545Q 1 0.72 ENSG00000058453 chr1:16966056-16966056;G/C missense_variant False CROCC@p.E1809K 1 0.281690141 ENSG00000058453 chr1:16969908-16969908;G/A missense_variant False CROCC@p.E318K 1 0.575163399 ENSG00000058453 chr1:16931393-16931393;G/A missense_variant False CROCC@p.E53K 1 0.220858896 ENSG00000058453 chr1:16922759-16922759;G/A missense_variant False CROCC@p.K1558N 1 0.2 ENSG00000058453 chr1:16966097-16966097;G/C missense_variant False CROT@p.D588H 1 0.086419753 ENSG00000005469 chr7:87398567-87398567;G/C missense_variant False CROT@p.E53K 1 0.16 ENSG00000005469 chr7:87359247-87359247;G/A missense_variant False CROT@p.H449Y 1 0.361445783 ENSG00000005469 chr7:87391632-87391632;C/T missense_variant False CROT@p.K226R 1 0.25 ENSG00000005469 chr7:87375652-87375652;A/G missense_variant False CROT@p.Q158E 1 0.095238095 ENSG00000005469 chr7:87361777-87361777;C/G missense_variant False CROT@p.R352T 1 0.102564103 ENSG00000005469 chr7:87381986-87381986;G/C missense_variant False CROT@p.S403C 1 0.328947368 ENSG00000005469 chr7:87382450-87382450;C/G missense_variant False CRP@p.H15Y 1 0.282608696 ENSG00000132693 chr1:159714443-159714443;G/A missense_variant False CRP@p.S122L 1 0.2 ENSG00000132693 chr1:159713835-159713835;G/A missense_variant False CXCR3@p.R288C 1 0.514285714 ENSG00000186810 chrX:71616610-71616610;G/A missense_variant False CXCR4@p.K239R 1 0.237288136 ENSG00000121966 chr2:136115212-136115212;T/C missense_variant False DENND2A@p.S315F 1 0.714285714 ENSG00000146966 chr7:140601454-140601454;G/A missense_variant False DCSTAMP@p.K469Q 1 0.243243243 ENSG00000164935 chr8:104356190-104356190;A/C missense_variant False DCT@p.I126M 1 0.317901235 ENSG00000080166 chr13:94468963-94468963;A/C missense_variant False DCT@p.H396Y 1 0.15 ENSG00000080166 chr13:94443631-94443631;G/A missense_variant False DCT@p.G103C 1 0.321100917 ENSG00000080166 chr13:94469034-94469034;C/A missense_variant False DCT@p.C109W 1 0.242424242 ENSG00000080166 chr13:94469014-94469014;G/C missense_variant False DCT@p.A357E 1 0.068493151 ENSG00000080166 chr13:94460200-94460200;G/T missense_variant False DCSTAMP@p.R79Q 1 0.197674419 ENSG00000164935 chr8:104348788-104348788;G/A missense_variant False DCSTAMP@p.I10M 1 0.155555556 ENSG00000164935 chr8:104348582-104348582;C/G missense_variant False DCT@p.P270A 1 0.226415094 ENSG00000080166 chr13:94465688-94465688;G/C missense_variant False DCSTAMP@p.G124D 1 0.115942029 ENSG00000164935 chr8:104348923-104348923;G/A missense_variant False DCSTAMP@p.E256D 1 0.336734694 ENSG00000164935 chr8:104349320-104349320;A/C missense_variant False DCST2@p.S742C 1 0.118421053 ENSG00000163354 chr1:155018641-155018641;G/C missense_variant False DCST2@p.S534F 1 0.187878788 ENSG00000163354 chr1:155026312-155026312;G/A missense_variant False DCST2@p.R632C 1 0.27027027 ENSG00000163354 chr1:155023434-155023434;G/A missense_variant False DCST2@p.G649V 1 0.378378378 ENSG00000163354 chr1:155023382-155023382;C/A missense_variant False DCT@p.L493V 1 0.215384615 ENSG00000080166 chr13:94439981-94439981;G/C missense_variant False DCT@p.V256M 1 0.342465753 ENSG00000080166 chr13:94465730-94465730;C/T missense_variant False DDIAS@p.E899K 1 0.333333333 ENSG00000165490 chr11:82934033-82934033;G/A missense_variant False DCTN2@p.D201N 1 0.294117647 ENSG00000175203 chr12:57534021-57534021;C/T missense_variant False DCTN4@p.L329V 1 0.571428571 ENSG00000132912 chr5:150718362-150718362;G/C missense_variant False DCTN4@p.F296L 1 0.269230769 ENSG00000132912 chr5:150722927-150722927;G/C missense_variant False DCTN3@p.R128H 1 0.376237624 ENSG00000137100 chr9:34614738-34614738;C/T missense_variant False DCTN2@p.S211F 1 0.178082192 ENSG00000175203 chr12:57533990-57533990;G/A missense_variant False DCTN2@p.G74A 1 0.267857143 ENSG00000175203 chr12:57535527-57535527;C/G missense_variant False DCTN2@p.G254E 1 0.285714286 ENSG00000175203 chr12:57532997-57532997;C/T missense_variant False DCTN2@p.A174V 1 0.426666667 ENSG00000175203 chr12:57534295-57534295;G/A missense_variant False DCTD@p.N73T 1 0.325 ENSG00000129187 chr4:182914949-182914949;T/G missense_variant False DCTN1@p.R614C 1 0.151515152 ENSG00000204843 chr2:74368742-74368742;G/A missense_variant False DCTN1@p.L27M 1 0.149606299 ENSG00000204843 chr2:74378200-74378200;G/T missense_variant False DCTN1@p.K262N 1 0.129310345 ENSG00000204843 chr2:74371036-74371036;C/G missense_variant False DCTN1@p.E740Q 1 0.479166667 ENSG00000204843 chr2:74367387-74367387;C/G missense_variant False DCTN1@p.E543D 1 0.4375 ENSG00000204843 chr2:74369170-74369170;C/G missense_variant False DCTN1@p.E451K 1 0.123595506 ENSG00000204843 chr2:74370006-74370006;C/T missense_variant False DCST2@p.G517D 1 0.182608696 ENSG00000163354 chr1:155026363-155026363;C/T missense_variant False DCST2@p.E408D 1 0.364705882 ENSG00000163354 chr1:155029351-155029351;C/A missense_variant False DCST1@p.T702A 1 0.631578947 ENSG00000163357 chr1:155050851-155050851;A/G missense_variant False DCN@p.K2R 1 0.118421053 ENSG00000011465 chr12:91178548-91178548;T/C missense_variant False DCP1B@p.A105S 1 0.31147541 ENSG00000151065 chr12:1993270-1993270;C/A missense_variant False DCP1A@p.R58Q 1 0.326923077 ENSG00000272886 chr3:53344905-53344905;C/T missense_variant False DCP1A@p.E167K 1 0.416666667 ENSG00000272886 chr3:53312252-53312252;C/T missense_variant False DCP1A@p.D28H 1 0.236363636 ENSG00000272886 chr3:53347436-53347436;C/G missense_variant False DCN@p.S258C 1 0.111111111 ENSG00000011465 chr12:91151766-91151766;G/C missense_variant False DCN@p.L252F 1 0.363636364 ENSG00000011465 chr12:91151783-91151783;C/G missense_variant False DCN@p.G51R 1 0.241935484 ENSG00000011465 chr12:91178402-91178402;C/G missense_variant False DCST1@p.S235L 1 0.25 ENSG00000163357 chr1:155041569-155041569;C/T missense_variant False DCN@p.F46L 1 0.299363057 ENSG00000011465 chr12:91178415-91178415;G/C missense_variant False DCLRE1C@p.T130S 1 0.134751773 ENSG00000152457 chr10:14935538-14935538;G/C missense_variant False DCLRE1C@p.R249C 1 0.21978022 ENSG00000152457 chr10:14932889-14932889;G/A missense_variant False DCLRE1C@p.H228D 1 0.099502488 ENSG00000152457 chr10:14932952-14932952;G/C missense_variant False DCLRE1C@p.D20H 1 0.189393939 ENSG00000152457 chr10:14953953-14953953;C/G missense_variant False DCLRE1C@p.A208E 1 0.878787879 ENSG00000152457 chr10:14934435-14934435;G/T missense_variant False DCP1B@p.F43L 1 0.178571429 ENSG00000151065 chr12:2004303-2004303;G/T missense_variant False DCP1B@p.G141E 1 0.568627451 ENSG00000151065 chr12:1965658-1965658;C/T missense_variant False DCP1B@p.P478S 1 0.321428571 ENSG00000151065 chr12:1952508-1952508;G/A missense_variant False DCP2@p.D287Y 1 0.58490566 ENSG00000172795 chr5:113003994-113003994;G/T missense_variant False DCP2@p.D410N 1 0.130434783 ENSG00000172795 chr5:113013449-113013449;G/A missense_variant False DCP2@p.E81K 1 0.513043478 ENSG00000172795 chr5:112992156-112992156;G/A missense_variant False DCP2@p.H304Y 1 0.495049505 ENSG00000172795 chr5:113004045-113004045;C/T missense_variant False DCP2@p.K359E 1 0.5 ENSG00000172795 chr5:113010783-113010783;A/G missense_variant False DCP2@p.Q38H 1 0.260162602 ENSG00000172795 chr5:112985895-112985895;G/T missense_variant False DCP2@p.Q79E 1 0.207207207 ENSG00000172795 chr5:112992150-112992150;C/G missense_variant False DCPS@p.D181N 1 0.351351351 ENSG00000110063 chr11:126338304-126338304;G/A missense_variant False DCPS@p.D324N 1 0.278688525 ENSG00000110063 chr11:126345569-126345569;G/A missense_variant False DCPS@p.V81I 1 0.684210526 ENSG00000110063 chr11:126306609-126306609;G/A missense_variant False DCST1@p.E115K 1 0.202898551 ENSG00000163357 chr1:155039483-155039483;G/A missense_variant False DCST1@p.L429V 1 0.160377358 ENSG00000163357 chr1:155046137-155046137;C/G missense_variant False DCST1@p.M271I 1 0.219512195 ENSG00000163357 chr1:155041778-155041778;G/A missense_variant False DCST1@p.R325C 1 0.255319149 ENSG00000163357 chr1:155042815-155042815;C/T missense_variant False DCTN4@p.P175Lfs*40 1 0.415584416 ENSG00000132912 chr5:150733381-150733381;G/- frameshift_variant False DCTN4@p.P315S 1 0.913043478 ENSG00000132912 chr5:150719736-150719736;G/A missense_variant False DCTN4@p.V415M 1 0.225806452 ENSG00000132912 chr5:150711289-150711289;C/T missense_variant False DDHD1@p.S648F 1 0.153846154 ENSG00000100523 chr14:53046853-53046853;G/A missense_variant False DDHD2@p.R158K 1 0.214285714 ENSG00000085788 chr8:38237599-38237599;G/A missense_variant False DDHD2@p.I496M 1 0.328638498 ENSG00000085788 chr8:38252158-38252158;C/G missense_variant False DDHD2@p.H565Y 1 0.239316239 ENSG00000085788 chr8:38252797-38252797;C/T missense_variant False DDHD2@p.F527C 1 0.163636364 ENSG00000085788 chr8:38252250-38252250;T/G missense_variant False DDHD2@p.E68K 1 0.19 ENSG00000085788 chr8:38233196-38233196;G/A missense_variant False DDHD2@p.E613K 1 0.192982456 ENSG00000085788 chr8:38253073-38253073;G/A missense_variant False DDHD1@p.R323W 1 0.352941176 ENSG00000100523 chr14:53063151-53063151;G/A missense_variant False DDC@p.A231V 1 0.320261438 ENSG00000132437 chr7:50528159-50528159;G/A missense_variant False DDHD1@p.I293R 1 0.227848101 ENSG00000100523 chr14:53072631-53072631;A/C missense_variant False DDHD1@p.F320L 1 0.137254902 ENSG00000100523 chr14:53063158-53063158;G/C missense_variant False DDHD1@p.D673N 1 0.272727273 ENSG00000100523 chr14:53046779-53046779;C/T missense_variant False DDHD1@p.D667N 1 0.666666667 ENSG00000100523 chr14:53046797-53046797;C/T missense_variant False DDC@p.S452F 1 0.485714286 ENSG00000132437 chr7:50463319-50463319;G/A missense_variant False DDC@p.S220C 1 0.257731959 ENSG00000132437 chr7:50528192-50528192;G/C missense_variant False DDHD2@p.R444K 1 0.25 ENSG00000085788 chr8:38249790-38249790;G/A missense_variant False DDI1@p.D377H 1 0.263157895 ENSG00000170967 chr11:104037951-104037951;G/C missense_variant False DDI1@p.E225K 1 0.433628319 ENSG00000170967 chr11:104037495-104037495;G/A missense_variant False DDI1@p.E44D 1 0.988235294 ENSG00000170967 chr11:104036954-104036954;G/T missense_variant False DDI1@p.Q324K 1 0.350364964 ENSG00000170967 chr11:104037792-104037792;C/A missense_variant False DDI1@p.R297T 1 0.547619048 ENSG00000170967 chr11:104037712-104037712;G/C missense_variant False DDI1@p.S261L 1 0.244186047 ENSG00000170967 chr11:104037604-104037604;C/T missense_variant False DDI1@p.S319C 1 0.28 ENSG00000170967 chr11:104037778-104037778;C/G missense_variant False DDI2@p.I125M 1 0.066666667 ENSG00000197312 chr1:15630431-15630431;A/G missense_variant False DDI2@p.L353V 1 0.105263158 ENSG00000197312 chr1:15651769-15651769;C/G missense_variant False DDI2@p.P197A 1 0.089783282 ENSG00000197312 chr1:15633522-15633522;C/G missense_variant False DDI2@p.P354A 1 0.16 ENSG00000197312 chr1:15651772-15651772;C/G missense_variant False DDI2@p.Q388E 1 0.466666667 ENSG00000197312 chr1:15651874-15651874;C/G missense_variant False DDIAS@p.E281K 1 0.448979592 ENSG00000165490 chr11:82932179-82932179;G/A missense_variant False DDIAS@p.E331K 1 0.071428571 ENSG00000165490 chr11:82932329-82932329;G/A missense_variant False DDIAS@p.E399Q 1 0.241935484 ENSG00000165490 chr11:82932533-82932533;G/C missense_variant False DDIAS@p.E420K 1 0.102409639 ENSG00000165490 chr11:82932596-82932596;G/A missense_variant False DDC@p.I378M 1 0.163157895 ENSG00000132437 chr7:50470079-50470079;G/C missense_variant False DDB2@p.R276T 1 0.340909091 ENSG00000134574 chr11:47234881-47234881;G/C missense_variant False DCTN5@p.F73L 1 0.24375 ENSG00000166847 chr16:23658608-23658608;C/G missense_variant False DCUN1D4@p.D265H 1 0.266666667 ENSG00000109184 chr4:51913362-51913362;G/C missense_variant False DCXR@p.E105K 1 0.243902439 ENSG00000169738 chr17:82036756-82036756;C/T missense_variant False DCX@p.E118K 1 0.192307692 ENSG00000077279 chrX:111410047-111410047;C/T missense_variant False DCX@p.D263N 1 0.424242424 ENSG00000077279 chrX:111333072-111333072;C/T missense_variant False DCUN1D5@p.N199S 1 0.444444444 ENSG00000137692 chr11:103064337-103064337;T/C missense_variant False DCUN1D5@p.G20A 1 0.101123596 ENSG00000137692 chr11:103091814-103091814;C/G missense_variant False DCUN1D4@p.S71F 1 0.128571429 ENSG00000109184 chr4:51874346-51874346;C/T missense_variant False DCUN1D3@p.Y183C 1 0.145038168 ENSG00000188215 chr16:20860253-20860253;T/C missense_variant False DDB2@p.L53P 1 0.244019139 ENSG00000134574 chr11:47216366-47216366;T/C missense_variant False DCUN1D2@p.L123V 1 0.156862745 ENSG00000150401 chr13:113480597-113480597;G/C missense_variant False DCUN1D2@p.D77N 1 0.316831683 ENSG00000150401 chr13:113480735-113480735;C/T missense_variant False DCUN1D2@p.D38H 1 0.402597403 ENSG00000150401 chr13:113483948-113483948;C/G missense_variant False DCUN1D1@p.Q76E 1 0.175438596 ENSG00000043093 chr3:182964044-182964044;G/C missense_variant False DCTPP1@p.R45Q 1 0.307692308 ENSG00000179958 chr16:30429135-30429135;C/T missense_variant False DCTPP1@p.D98H 1 0.303030303 ENSG00000179958 chr16:30424454-30424454;C/G missense_variant False DCXR@p.E65Q 1 0.333333333 ENSG00000169738 chr17:82036971-82036971;C/G missense_variant False DDAH1@p.D217H 1 0.264150943 ENSG00000153904 chr1:85324832-85324832;C/G missense_variant False DDAH1@p.D254Y 1 0.12 ENSG00000153904 chr1:85321550-85321550;C/A missense_variant False DDAH1@p.E122Q 1 0.254545455 ENSG00000153904 chr1:85358787-85358787;C/G missense_variant False DDAH1@p.M119I 1 0.129032258 ENSG00000153904 chr1:85358794-85358794;C/A missense_variant False DDAH1@p.Q195H 1 0.350993377 ENSG00000153904 chr1:85350427-85350427;C/G missense_variant False DDAH1@p.V80A 1 0.533333333 ENSG00000153904 chr1:85464807-85464807;A/G missense_variant False DDAH2@p.L223F 1 0.37628866 ENSG00000213722 chr6:31727617-31727617;G/A missense_variant False DDB1@p.D1115N 1 0.318181818 ENSG00000167986 chr11:61300216-61300216;C/T missense_variant False DDB1@p.F612L 1 0.326315789 ENSG00000167986 chr11:61313887-61313887;G/C missense_variant False DDB1@p.I469M 1 0.321078431 ENSG00000167986 chr11:61316288-61316288;G/C missense_variant False DDB1@p.L997F 1 0.4 ENSG00000167986 chr11:61302705-61302705;G/A missense_variant False DDB1@p.R158L 1 0.476190476 ENSG00000167986 chr11:61329439-61329439;C/A missense_variant False DDB1@p.V452M 1 0.436241611 ENSG00000167986 chr11:61316341-61316341;C/T missense_variant False DDB2@p.A259P 1 0.35483871 ENSG00000134574 chr11:47234829-47234829;G/C missense_variant False DDB2@p.D198Rfs*9 1 0.298076923 ENSG00000134574 chr11:47232947-47232948;-/A frameshift_variant False DDB2@p.E311Q 1 0.205882353 ENSG00000134574 chr11:47235320-47235320;G/C missense_variant False DCLRE1B@p.T470A 1 0.064748201 ENSG00000118655 chr1:113912000-113912000;A/G missense_variant False DCLRE1B@p.R368K 1 0.42962963 ENSG00000118655 chr1:113911695-113911695;G/A missense_variant False DCLRE1B@p.R332K 1 0.238095238 ENSG00000118655 chr1:113911587-113911587;G/A missense_variant False DCC@p.E403K 1 0.110497238 ENSG00000187323 chr18:53066112-53066112;G/A missense_variant False DCC@p.H172Q 1 0.08 ENSG00000187323 chr18:52906147-52906147;C/G missense_variant False DCC@p.E87K 1 0.273809524 ENSG00000187323 chr18:52752221-52752221;G/A missense_variant False DCC@p.E784K 1 0.260869565 ENSG00000187323 chr18:53339898-53339898;G/A missense_variant False DCC@p.E532K 1 0.221789883 ENSG00000187323 chr18:53205236-53205236;G/A missense_variant False DCC@p.E507K 1 0.466666667 ENSG00000187323 chr18:53179062-53179062;G/A missense_variant False DCC@p.E405Q 1 0.196261682 ENSG00000187323 chr18:53066118-53066118;G/C missense_variant False DCC@p.E351Q 1 0.32278481 ENSG00000187323 chr18:53063370-53063370;G/C missense_variant False DCBLD2@p.E80K 1 0.165048544 ENSG00000057019 chr3:98881735-98881735;C/T missense_variant False DCC@p.D866G 1 0.096153846 ENSG00000187323 chr18:53391796-53391796;A/G missense_variant False DCC@p.D825Y 1 0.115384615 ENSG00000187323 chr18:53391672-53391672;G/T missense_variant False DCC@p.D612N 1 0.069387755 ENSG00000187323 chr18:53207790-53207790;G/A missense_variant False DCC@p.D256G 1 0.256756757 ENSG00000187323 chr18:52923776-52923776;A/G missense_variant False DCBLD2@p.N419D 1 0.266666667 ENSG00000057019 chr3:98812440-98812440;T/C missense_variant False DCBLD2@p.G448E 1 0.102564103 ENSG00000057019 chr3:98812352-98812352;C/T missense_variant False DCC@p.K315E 1 0.25 ENSG00000187323 chr18:52925328-52925328;A/G missense_variant False DCC@p.L1148I 1 0.732673267 ENSG00000187323 chr18:53459281-53459281;C/A missense_variant False DCC@p.L477F 1 0.181818182 ENSG00000187323 chr18:53178974-53178974;G/T missense_variant False DCC@p.M1354I 1 0.237623762 ENSG00000187323 chr18:53499461-53499461;G/A missense_variant False DCC@p.P1179H 1 0.465116279 ENSG00000187323 chr18:53459375-53459375;C/A missense_variant False DCC@p.P1266L 1 0.072916667 ENSG00000187323 chr18:53486857-53486857;C/T missense_variant False DCC@p.R1130T 1 0.139534884 ENSG00000187323 chr18:53450659-53450659;G/C missense_variant False DCC@p.R1133W 1 0.481481481 ENSG00000187323 chr18:53459236-53459236;C/T missense_variant False DCC@p.R215Q 1 0.384615385 ENSG00000187323 chr18:52906275-52906275;G/A missense_variant False DCC@p.R446C 1 0.757575758 ENSG00000187323 chr18:53157430-53157430;C/T missense_variant False DCC@p.R661Q 1 0.256410256 ENSG00000187323 chr18:53305648-53305648;G/A missense_variant False DCC@p.V1248M 1 0.411428571 ENSG00000187323 chr18:53486802-53486802;G/A missense_variant False DCDC1@p.E1028Q 1 0.411764706 ENSG00000170959 chr11:30922554-30922554;C/G missense_variant False DCDC1@p.E1639Q 1 0.288461538 ENSG00000170959 chr11:30892976-30892976;C/G missense_variant False DCDC1@p.G303S 1 0.175257732 ENSG00000170959 chr11:31290700-31290700;C/T missense_variant False DCDC1@p.H794N 1 0.586206897 ENSG00000170959 chr11:31065072-31065072;G/T missense_variant False DCDC1@p.I1653M 1 0.22 ENSG00000170959 chr11:30892932-30892932;T/C missense_variant False DCBLD2@p.E80Q 1 0.068181818 ENSG00000057019 chr3:98881735-98881735;C/G missense_variant False DCBLD2@p.D513H 1 0.503816794 ENSG00000057019 chr3:98811233-98811233;C/G missense_variant False DCDC1@p.K1351N 1 0.416666667 ENSG00000170959 chr11:30906591-30906591;C/G missense_variant False DCAF6@p.D803H 1 0.057142857 ENSG00000143164 chr1:168066460-168066460;G/C missense_variant False DCAF6@p.T496I 1 0.195530726 ENSG00000143164 chr1:168038479-168038479;C/T missense_variant False DCAF6@p.S215L 1 0.24 ENSG00000143164 chr1:167991295-167991295;C/T missense_variant False DCAF6@p.R83K 1 0.49 ENSG00000143164 chr1:167966717-167966717;G/A missense_variant False DCAF6@p.L43R 1 0.627659574 ENSG00000143164 chr1:167951830-167951830;T/G missense_variant False DCAF6@p.G234S 1 0.444444444 ENSG00000143164 chr1:167993237-167993237;G/A missense_variant False DCAF6@p.E855K 1 0.378378378 ENSG00000143164 chr1:168075415-168075415;G/A missense_variant False DCAF6@p.D760H 1 0.585106383 ENSG00000143164 chr1:168065701-168065701;G/C missense_variant False DCBLD1@p.S373F 1 0.102362205 ENSG00000164465 chr6:117540684-117540684;C/T missense_variant False DCAF5@p.P774H 1 0.214285714 ENSG00000139990 chr14:69054365-69054365;G/T missense_variant False DCAF5@p.G73E 1 0.395833333 ENSG00000139990 chr14:69122357-69122357;C/T missense_variant False DCAF4L2@p.S205P 1 0.273684211 ENSG00000176566 chr8:87873359-87873359;A/G missense_variant False DCAF4L2@p.R38S 1 0.207792208 ENSG00000176566 chr8:87873858-87873858;T/A missense_variant False DCAF4L2@p.K295N 1 0.126315789 ENSG00000176566 chr8:87873087-87873087;C/G missense_variant False DCAF4L2@p.F392L 1 0.360655738 ENSG00000176566 chr8:87872796-87872796;G/T missense_variant False DCAF8@p.P23T 1 0.078947368 ENSG00000132716 chr1:160240353-160240353;G/T missense_variant False DCAF8@p.S142L 1 0.181818182 ENSG00000132716 chr1:160239995-160239995;G/A missense_variant False DCAF8L1@p.D388N 1 0.294117647 ENSG00000226372 chrX:27980173-27980173;C/T missense_variant False DCAF8L1@p.E77K 1 0.25 ENSG00000226372 chrX:27981106-27981106;C/T missense_variant False DCAF8L1@p.F550L 1 0.342857143 ENSG00000226372 chrX:27979685-27979685;G/T missense_variant False DCAF8L1@p.L521F 1 0.875 ENSG00000226372 chrX:27979772-27979772;T/A missense_variant False DCAF8L1@p.P121Q 1 0.972972973 ENSG00000226372 chrX:27980973-27980973;G/T missense_variant False DCAF8L1@p.P23T 1 0.258064516 ENSG00000226372 chrX:27981268-27981268;G/T missense_variant False DCAF8L1@p.S236I 1 0.169491525 ENSG00000226372 chrX:27980628-27980628;C/A missense_variant False DCAKD@p.G25S 1 0.25 ENSG00000172992 chr17:45034813-45034813;C/T missense_variant False DCAKD@p.S16L 1 0.14516129 ENSG00000172992 chr17:45034839-45034839;G/A missense_variant False DCAKD@p.T211K 1 0.222222222 ENSG00000172992 chr17:45024497-45024497;G/T missense_variant False DCANP1@p.L207F 1 0.107692308 ENSG00000251380 chr5:135446488-135446488;C/A missense_variant False DCANP1@p.R82Q 1 0.280701754 ENSG00000251380 chr5:135446864-135446864;C/T missense_variant False DCANP1@p.S12L 1 0.465116279 ENSG00000251380 chr5:135447074-135447074;G/A missense_variant False DCBLD1@p.A300P 1 0.551724138 ENSG00000164465 chr6:117538757-117538757;G/C missense_variant False DCBLD1@p.G411A 1 0.1625 ENSG00000164465 chr6:117540798-117540798;G/C missense_variant False DCDC1@p.I327V 1 0.147058824 ENSG00000170959 chr11:31265582-31265582;T/C missense_variant False DCDC1@p.K1701Q 1 0.31372549 ENSG00000170959 chr11:30881281-30881281;T/G missense_variant False DCLRE1B@p.L505V 1 0.175675676 ENSG00000118655 chr1:113912105-113912105;C/G missense_variant False DCLK2@p.L216V 1 0.323529412 ENSG00000170390 chr4:150102702-150102702;C/G missense_variant False DCLK2@p.V512M 1 0.568047337 ENSG00000170390 chr4:150232796-150232796;G/A missense_variant False DCLK2@p.S623F 1 0.384615385 ENSG00000170390 chr4:150247692-150247692;C/T missense_variant False DCLK2@p.S338C 1 0.14379085 ENSG00000170390 chr4:150203846-150203846;C/G missense_variant False DCLK2@p.S312F 1 0.326086957 ENSG00000170390 chr4:150198077-150198077;C/T missense_variant False DCLK2@p.S299Qfs*53 1 0.181818182 ENSG00000170390 chr4:150198035-150198035;C/- frameshift_variant False DCLK2@p.L695V 1 0.239130435 ENSG00000170390 chr4:150256029-150256029;C/G missense_variant False DCLK2@p.E377Q 1 0.27027027 ENSG00000170390 chr4:150220775-150220775;G/C missense_variant False DCLK1@p.R292H 1 0.286956522 ENSG00000133083 chr13:35871289-35871289;C/T missense_variant False DCLK2@p.E186K 1 0.149253731 ENSG00000170390 chr4:150102612-150102612;G/A missense_variant False DCLK2@p.D371Y 1 0.310344828 ENSG00000170390 chr4:150220757-150220757;G/T missense_variant False DCLK1@p.V27G 1 0.361111111 ENSG00000133083 chr13:36126058-36126058;A/C missense_variant False DCLK1@p.S424I 1 0.459459459 ENSG00000133083 chr13:35828266-35828266;C/A missense_variant False DCLK1@p.S334L 1 0.27480916 ENSG00000133083 chr13:35854533-35854533;G/A missense_variant False DCLK1@p.S290L 1 0.413265306 ENSG00000133083 chr13:35871295-35871295;G/A missense_variant False DCLK2@p.W165L 1 0.904761905 ENSG00000170390 chr4:150102550-150102550;G/T missense_variant False DCLK3@p.P318L 1 0.298429319 ENSG00000163673 chr3:36737707-36737707;G/A missense_variant False DCLK3@p.R227K 1 0.305555556 ENSG00000163673 chr3:36737980-36737980;C/T missense_variant False DCLK3@p.R88T 1 0.089285714 ENSG00000163673 chr3:36738397-36738397;C/G missense_variant False DCLK3@p.R97Gfs*82 1 0.305555556 ENSG00000163673 chr3:36738372-36738372;C/- frameshift_variant False DCLRE1A@p.E448K 1 0.432432432 ENSG00000198924 chr10:113849763-113849763;C/T missense_variant False DCLRE1A@p.E581Q 1 0.126903553 ENSG00000198924 chr10:113849364-113849364;C/G missense_variant False DCLRE1A@p.G950A 1 0.515463918 ENSG00000198924 chr10:113837175-113837175;C/G missense_variant False DCLRE1A@p.H251Y 1 0.488095238 ENSG00000198924 chr10:113850354-113850354;G/A missense_variant False DCLRE1A@p.L458F 1 0.315789474 ENSG00000198924 chr10:113849733-113849733;G/A missense_variant False DCLRE1A@p.S147F 1 0.214285714 ENSG00000198924 chr10:113852743-113852743;G/A missense_variant False DCLRE1A@p.S597W 1 0.285714286 ENSG00000198924 chr10:113849315-113849315;G/C missense_variant False DCLRE1A@p.S75F 1 0.314465409 ENSG00000198924 chr10:113852959-113852959;G/A missense_variant False DCLRE1A@p.Y719D 1 0.446808511 ENSG00000198924 chr10:113847306-113847306;A/C missense_variant False DCLRE1B@p.D522H 1 0.518796992 ENSG00000118655 chr1:113912156-113912156;G/C missense_variant False DCLRE1B@p.H485Y 1 0.218543046 ENSG00000118655 chr1:113912045-113912045;C/T missense_variant False DCLRE1B@p.L155V 1 0.185714286 ENSG00000118655 chr1:113908116-113908116;C/G missense_variant False DCLK1@p.R699Q 1 0.333333333 ENSG00000133083 chr13:35774662-35774662;C/T missense_variant False DCLK1@p.P446A 1 0.124031008 ENSG00000133083 chr13:35827706-35827706;G/C missense_variant False DCDC1@p.N207Y 1 0.507042254 ENSG00000170959 chr11:31305750-31305750;T/A missense_variant False DCDC2B@p.E204K 1 0.263565891 ENSG00000222046 chr1:32212572-32212572;G/A missense_variant False DCHS1@p.D680Y 1 0.483870968 ENSG00000166341 chr11:6633969-6633969;C/A missense_variant False DCHS1@p.D661Y 1 0.08988764 ENSG00000166341 chr11:6634123-6634123;C/A missense_variant False DCHS1@p.D552N 1 0.122641509 ENSG00000166341 chr11:6639960-6639960;C/T missense_variant False DCHS1@p.A309T 1 0.512 ENSG00000166341 chr11:6640689-6640689;C/T missense_variant False DCHS1@p.A2040T 1 0.365384615 ENSG00000166341 chr11:6626921-6626921;C/T missense_variant False DCDC2B@p.E204Q 1 0.093333333 ENSG00000222046 chr1:32212572-32212572;G/C missense_variant False DCDC2@p.E411D 1 0.138461538 ENSG00000146038 chr6:24178423-24178423;C/A missense_variant False DCLK1@p.L101F 1 0.556603774 ENSG00000133083 chr13:36125835-36125835;C/A missense_variant False DCDC2@p.D332V 1 0.061728395 ENSG00000146038 chr6:24205030-24205030;T/A missense_variant False DCDC1@p.W1211C 1 0.08 ENSG00000170959 chr11:30915531-30915531;C/G missense_variant False DCDC1@p.V1607L 1 0.279069767 ENSG00000170959 chr11:30894322-30894322;C/A missense_variant False DCDC1@p.S150C 1 0.227272727 ENSG00000170959 chr11:31306374-31306374;G/C missense_variant False DCDC1@p.Q170E 1 0.434782609 ENSG00000170959 chr11:31306315-31306315;G/C missense_variant False DCDC1@p.P140L 1 0.1171875 ENSG00000170959 chr11:31307654-31307654;G/A missense_variant False DCHS1@p.E1576K 1 0.272727273 ENSG00000166341 chr11:6630068-6630068;C/T missense_variant False DCHS1@p.E2287Q 1 0.126315789 ENSG00000166341 chr11:6625600-6625600;C/G missense_variant False DCHS1@p.E589K 1 0.135135135 ENSG00000166341 chr11:6639849-6639849;C/T missense_variant False DCHS1@p.E737K 1 0.303571429 ENSG00000166341 chr11:6633798-6633798;C/T missense_variant False DCHS1@p.F2639L 1 0.13559322 ENSG00000166341 chr11:6623759-6623759;G/C missense_variant False DCHS1@p.I1948M 1 0.253731343 ENSG00000166341 chr11:6627195-6627195;G/C missense_variant False DCHS1@p.L2724F 1 0.2 ENSG00000166341 chr11:6623506-6623506;G/A missense_variant False DCHS1@p.M1771I 1 0.405405405 ENSG00000166341 chr11:6628679-6628679;C/T missense_variant False DCHS1@p.P1560T 1 0.47826087 ENSG00000166341 chr11:6630116-6630116;G/T missense_variant False DCHS1@p.R2127H 1 0.333333333 ENSG00000166341 chr11:6626365-6626365;C/T missense_variant False DCHS1@p.S1531L 1 0.5 ENSG00000166341 chr11:6630202-6630202;G/A missense_variant False DCHS1@p.S3244F 1 0.352941176 ENSG00000166341 chr11:6621945-6621945;G/A missense_variant False DCHS1@p.T1164I 1 0.483870968 ENSG00000166341 chr11:6631800-6631800;G/A missense_variant False DCK@p.E197K 1 0.476821192 ENSG00000156136 chr4:71025855-71025855;G/A missense_variant False DCK@p.L257F 1 0.346938776 ENSG00000156136 chr4:71029366-71029366;G/C missense_variant False DCLK1@p.D511N 1 0.475 ENSG00000133083 chr13:35822752-35822752;C/T missense_variant False DCLK1@p.K138N 1 0.337349398 ENSG00000133083 chr13:36112178-36112178;C/G missense_variant False DDIAS@p.E566K 1 0.4 ENSG00000165490 chr11:82933034-82933034;G/A missense_variant False DDIAS@p.F146L 1 0.427083333 ENSG00000165490 chr11:82931776-82931776;C/A missense_variant False DCAF4L2@p.A196V 1 0.35483871 ENSG00000176566 chr8:87873385-87873385;G/A missense_variant False DDX54@p.G869R 1 0.163265306 ENSG00000123064 chr12:113158918-113158918;C/G missense_variant False DDX55@p.E575D 1 0.189655172 ENSG00000111364 chr12:123620062-123620062;G/T missense_variant False DDX55@p.E549Q 1 0.2 ENSG00000111364 chr12:123619982-123619982;G/C missense_variant False DDX54@p.R855C 1 0.270833333 ENSG00000123064 chr12:113158960-113158960;G/A missense_variant False DDX54@p.R765Q 1 0.174468085 ENSG00000123064 chr12:113161899-113161899;C/T missense_variant False DDX54@p.R685Q 1 0.671641791 ENSG00000123064 chr12:113163159-113163159;C/T missense_variant False DDX54@p.L392F 1 0.260869565 ENSG00000123064 chr12:113172458-113172458;G/A missense_variant False DDX54@p.G475D 1 0.230769231 ENSG00000123064 chr12:113166023-113166023;C/T missense_variant False DDX55@p.L262F 1 0.077586207 ENSG00000111364 chr12:123613212-123613212;C/T missense_variant False DDX54@p.E42K 1 1.0 ENSG00000123064 chr12:113185328-113185328;C/T missense_variant False DDX54@p.D789Y 1 0.288135593 ENSG00000123064 chr12:113161318-113161318;C/A missense_variant False DDX54@p.D339N 1 0.428571429 ENSG00000123064 chr12:113174693-113174693;C/T missense_variant False DDX54@p.D208N 1 0.327433628 ENSG00000123064 chr12:113177086-113177086;C/T missense_variant False DDX54@p.D132H 1 0.1 ENSG00000123064 chr12:113179313-113179313;C/G missense_variant False DDX53@p.I375T 1 0.166666667 ENSG00000184735 chrX:23001181-23001181;T/C missense_variant False DDX55@p.F382L 1 0.157894737 ENSG00000111364 chr12:123617854-123617854;C/A missense_variant False DDX58@p.D919N 1 0.186813187 None chr9:32457145-32457145;C/T missense_variant False DDIAS@p.N601T 1 0.127659574 ENSG00000165490 chr11:82933140-82933140;A/C missense_variant False DDX59@p.R281T 1 0.101449275 ENSG00000118197 chr1:200664049-200664049;C/G missense_variant False DDX5@p.N548S 1 0.491803279 ENSG00000108654 chr17:64500125-64500125;T/C missense_variant False DDX5@p.E259K 1 0.184615385 ENSG00000108654 chr17:64503223-64503223;C/T missense_variant False DDX5@p.D272N 1 0.074626866 ENSG00000108654 chr17:64503095-64503095;C/T missense_variant False DDX5@p.D255N 1 0.220338983 ENSG00000108654 chr17:64503235-64503235;C/T missense_variant False DDX5@p.C191G 1 0.28 ENSG00000108654 chr17:64503508-64503508;A/C missense_variant False DDX59@p.S384L 1 0.53125 ENSG00000118197 chr1:200650588-200650588;G/A missense_variant False DDX59@p.G534R 1 0.189655172 ENSG00000118197 chr1:200644514-200644514;C/T missense_variant False DDX58@p.E330Q 1 0.138888889 None chr9:32488169-32488169;C/G missense_variant False DDX59@p.G115E 1 0.123188406 ENSG00000118197 chr1:200666397-200666397;C/T missense_variant False DDX59@p.E497K 1 0.0375 ENSG00000118197 chr1:200648546-200648546;C/T missense_variant False DDX58@p.R244K 1 0.523076923 None chr9:32489412-32489412;C/T missense_variant False DDX58@p.Q451Lfs*24 1 0.11827957 None chr9:32487492-32487495;CTTG/- frameshift_variant False DDX58@p.M148I 1 0.232142857 None chr9:32492518-32492518;C/T missense_variant False DDX58@p.E483Q 1 0.403225806 None chr9:32485208-32485208;C/G missense_variant False DDX53@p.I349F 1 0.060606061 ENSG00000184735 chrX:23001102-23001102;A/T missense_variant False DDX52@p.R8C 1 0.144444444 ENSG00000278053 chr17:37643399-37643399;G/A missense_variant False DDX52@p.P56L 1 0.134020619 ENSG00000278053 chr17:37642229-37642229;G/A missense_variant False DDX46@p.R681G 1 0.25 ENSG00000145833 chr5:134807834-134807834;C/G missense_variant False DDX4@p.D170E 1 0.145833333 ENSG00000152670 chr5:55781079-55781079;C/A missense_variant False DDX47@p.M297I 1 0.163265306 ENSG00000213782 chr12:12824010-12824010;G/C missense_variant False DDX47@p.H380L 1 0.232704403 ENSG00000213782 chr12:12827278-12827278;A/T missense_variant False DDX46@p.W947C 1 0.405405405 ENSG00000145833 chr5:134818871-134818871;G/C missense_variant False DDX46@p.S869C 1 0.195121951 ENSG00000145833 chr5:134816599-134816599;C/G missense_variant False DDX46@p.S85C 1 0.128205128 ENSG00000145833 chr5:134766964-134766964;C/G missense_variant False DDX46@p.L683V 1 0.328767123 ENSG00000145833 chr5:134807840-134807840;C/G missense_variant False DDX52@p.K590N 1 0.146551724 ENSG00000278053 chr17:37614326-37614326;C/G missense_variant False DDX46@p.E847K 1 0.2 ENSG00000145833 chr5:134816532-134816532;G/A missense_variant False DDX46@p.E725K 1 0.163043478 ENSG00000145833 chr5:134811245-134811245;G/A missense_variant False DDX46@p.E143K 1 0.5 ENSG00000145833 chr5:134770979-134770979;G/A missense_variant False DDX43@p.S44G 1 0.736842105 ENSG00000080007 chr6:73395035-73395035;A/G missense_variant False DDX43@p.R580T 1 0.315789474 ENSG00000080007 chr6:73414680-73414680;G/C missense_variant False DDX43@p.G284A 1 0.253968254 ENSG00000080007 chr6:73406407-73406407;G/C missense_variant False DDX4@p.E459K 1 0.4375 ENSG00000152670 chr5:55792713-55792713;G/A missense_variant False DDX4@p.E575A 1 0.157303371 ENSG00000152670 chr5:55814909-55814909;A/C missense_variant False DDX4@p.H13Y 1 0.178571429 ENSG00000152670 chr5:55739000-55739000;C/T missense_variant False DDX4@p.K361E 1 0.11965812 ENSG00000152670 chr5:55787909-55787909;A/G missense_variant False DDX4@p.R123W 1 0.304347826 ENSG00000152670 chr5:55767913-55767913;C/T missense_variant False DDX4@p.R536G 1 0.361111111 ENSG00000152670 chr5:55798562-55798562;C/G missense_variant False DDX4@p.S566L 1 0.372093023 ENSG00000152670 chr5:55813754-55813754;C/T missense_variant False DDX50@p.E204Q 1 0.188679245 ENSG00000107625 chr10:68911217-68911217;G/C missense_variant False DDX50@p.L96V 1 0.208333333 ENSG00000107625 chr10:68906909-68906909;C/G missense_variant False DDX50@p.T220K 1 0.366666667 ENSG00000107625 chr10:68913181-68913181;C/A missense_variant False DDX50@p.W682R 1 0.5 ENSG00000107625 chr10:68946460-68946460;T/C missense_variant False DDX51@p.M546I 1 0.275510204 ENSG00000185163 chr12:132140458-132140458;C/T missense_variant False DDX51@p.S431L 1 0.24137931 ENSG00000185163 chr12:132140979-132140979;G/A missense_variant False DDX52@p.E204K 1 0.653846154 ENSG00000278053 chr17:37630167-37630167;C/T missense_variant False DDX52@p.E80K 1 0.266129032 ENSG00000278053 chr17:37642158-37642158;C/T missense_variant False DDX52@p.G327S 1 0.245283019 ENSG00000278053 chr17:37626052-37626052;C/T missense_variant False DDX52@p.G50Wfs*31 1 0.259615385 ENSG00000278053 chr17:37642248-37642249;-/A frameshift_variant False DDX5@p.R177W 1 0.063063063 ENSG00000108654 chr17:64503550-64503550;G/A missense_variant False DDX5@p.R240T 1 0.333333333 ENSG00000108654 chr17:64503279-64503279;C/G missense_variant False DDX5@p.R8Q 1 0.333333333 ENSG00000108654 chr17:64506097-64506097;C/T missense_variant False DEFB135@p.I33S 1 0.367647059 ENSG00000205883 chr8:11984454-11984454;T/G missense_variant False DELE1@p.P152A 1 0.204081633 ENSG00000081791 chr5:141929623-141929623;C/G missense_variant False DEK@p.R262T 1 0.102564103 ENSG00000124795 chr6:18237494-18237494;C/G missense_variant False DEK@p.R178T 1 0.057692308 ENSG00000124795 chr6:18255771-18255771;C/G missense_variant False DEK@p.E9K 1 0.349206349 ENSG00000124795 chr6:18263963-18263963;C/T missense_variant False DEK@p.D248H 1 0.233333333 ENSG00000124795 chr6:18249671-18249671;C/G missense_variant False DEGS1@p.P274S 1 0.206349206 ENSG00000143753 chr1:224190314-224190314;C/T missense_variant False DEFB129@p.R95T 1 0.397260274 ENSG00000125903 chr20:229503-229503;G/C missense_variant False DEFB112@p.E67K 1 0.465116279 ENSG00000180872 chr6:50043661-50043661;C/T missense_variant False DEFB129@p.E182K 1 0.166666667 ENSG00000125903 chr20:229763-229763;G/A missense_variant False DEFB129@p.D154N 1 0.326086957 ENSG00000125903 chr20:229679-229679;G/A missense_variant False DEFB128@p.R20K 1 0.086206897 ENSG00000185982 chr20:188109-188109;C/T missense_variant False DEFB121@p.L5I 1 0.244897959 ENSG00000204548 chr20:31406140-31406140;G/T missense_variant False DEFB116@p.D84N 1 0.446327684 ENSG00000215545 chr20:31303271-31303271;C/T missense_variant False DEFB115@p.E70Q 1 0.288888889 ENSG00000215547 chr20:31259573-31259573;G/C missense_variant False DELE1@p.P61S 1 0.131578947 ENSG00000081791 chr5:141925444-141925444;C/T missense_variant False DENND10@p.I298T 1 0.681318681 ENSG00000119979 chr10:119132605-119132605;T/C missense_variant False DENND1A@p.G711S 1 0.269230769 ENSG00000119522 chr9:123382331-123382331;C/T missense_variant False DENND1A@p.L475P 1 0.340909091 ENSG00000119522 chr9:123440424-123440424;A/G missense_variant False DENND1B@p.L519V 1 0.083333333 ENSG00000213047 chr1:197512914-197512914;G/C missense_variant False DENND1B@p.S171F 1 0.42 ENSG00000213047 chr1:197645739-197645739;G/A missense_variant False DENND1C@p.D630N 1 0.391304348 ENSG00000205744 chr19:6468022-6468022;C/T missense_variant False DENND1C@p.E562D 1 0.32 ENSG00000205744 chr19:6468339-6468339;C/G missense_variant False DENND1C@p.E758Q 1 0.555555556 ENSG00000205744 chr19:6467638-6467638;C/G missense_variant False DENND1C@p.G206R 1 0.163265306 ENSG00000205744 chr19:6476919-6476919;C/T missense_variant False DENND1C@p.P164T 1 0.516129032 ENSG00000205744 chr19:6477241-6477241;G/T missense_variant False DENND1C@p.R33L 1 0.6 ENSG00000205744 chr19:6479887-6479887;C/A missense_variant False DENND2A@p.K540N 1 0.516129032 ENSG00000146966 chr7:140567245-140567245;C/A missense_variant False DENND2A@p.L869V 1 0.552631579 ENSG00000146966 chr7:140523367-140523367;G/C missense_variant False DENND2A@p.R644K 1 0.895833333 ENSG00000146966 chr7:140558171-140558171;C/T missense_variant False DENND2A@p.R660S 1 0.403669725 ENSG00000146966 chr7:140555695-140555695;G/T missense_variant False DENND2A@p.S187F 1 0.228571429 ENSG00000146966 chr7:140601838-140601838;G/A missense_variant False DEFB114@p.D27N 1 0.2 ENSG00000177684 chr6:49960423-49960423;C/T missense_variant False DEF8@p.S83C 1 0.192982456 ENSG00000140995 chr16:89954317-89954317;C/G missense_variant False DDX60@p.A669T 1 0.157142857 ENSG00000137628 chr4:168276155-168276155;C/T missense_variant False DDX60L@p.Q1684L 1 0.486486486 ENSG00000181381 chr4:168358217-168358217;T/A missense_variant False DDX6@p.G454E 1 0.355555556 ENSG00000110367 chr11:118754803-118754803;C/T missense_variant False DDX60L@p.T767Lfs*37 1 0.264150943 ENSG00000181381 chr4:168421840-168421856;TTTTGCCTGAGGACGTT/- frameshift_variant False DDX60L@p.S972L 1 0.09375 ENSG00000181381 chr4:168415472-168415472;G/A missense_variant False DDX60L@p.S647L 1 0.2 ENSG00000181381 chr4:168423765-168423765;G/A missense_variant False DDX60L@p.S533L 1 0.181818182 ENSG00000181381 chr4:168430557-168430557;G/A missense_variant False DDX60L@p.R316P 1 0.476744186 ENSG00000181381 chr4:168453173-168453173;C/G missense_variant False DDX60L@p.M1517I 1 0.263157895 ENSG00000181381 chr4:168375459-168375459;C/T missense_variant False DEF8@p.R319C 1 0.516129032 ENSG00000140995 chr16:89961829-89961829;C/T missense_variant False DDX60L@p.I1590M 1 0.15 ENSG00000181381 chr4:168373672-168373672;G/C missense_variant False DDX60L@p.E1054D 1 0.3125 ENSG00000181381 chr4:168406001-168406001;T/G missense_variant False DDX60@p.M405I 1 0.138888889 ENSG00000137628 chr4:168287172-168287172;C/T missense_variant False DDX60@p.L248V 1 0.195121951 ENSG00000137628 chr4:168293927-168293927;G/C missense_variant False DDX60@p.K1177R 1 0.708333333 ENSG00000137628 chr4:168255738-168255738;T/C missense_variant False DDX60@p.D1692V 1 0.181818182 ENSG00000137628 chr4:168216997-168216997;T/A missense_variant False DDX6@p.K466N 1 0.170940171 ENSG00000110367 chr11:118754766-118754766;C/G missense_variant False DDX6@p.Q56E 1 0.181818182 ENSG00000110367 chr11:118786086-118786086;G/C missense_variant False DEAF1@p.A467V 1 0.166666667 ENSG00000177030 chr11:674639-674639;G/A missense_variant False DECR1@p.F43L 1 0.136363636 ENSG00000104325 chr8:90017183-90017183;C/G missense_variant False DEDD2@p.R285Q 1 0.490909091 ENSG00000160570 chr19:42199565-42199565;C/T missense_variant False DEDD@p.E202K 1 0.373626374 ENSG00000158796 chr1:161122500-161122500;C/T missense_variant False DEDD@p.E57Q 1 0.588235294 ENSG00000158796 chr1:161124294-161124294;C/G missense_variant False DEDD@p.R198W 1 0.195488722 ENSG00000158796 chr1:161122512-161122512;G/A missense_variant False DEDD@p.R7Q 1 0.609271523 ENSG00000158796 chr1:161124443-161124443;C/T missense_variant False DEDD@p.S267F 1 0.282828283 ENSG00000158796 chr1:161122304-161122304;G/A missense_variant False DEF6@p.A487T 1 0.444444444 ENSG00000023892 chr6:35319895-35319895;G/A missense_variant False DEF6@p.E21Q 1 0.176470588 ENSG00000023892 chr6:35297917-35297917;G/C missense_variant False DEF6@p.P561S 1 0.389078498 ENSG00000023892 chr6:35321195-35321195;C/T missense_variant False DEF6@p.Q116E 1 0.146788991 ENSG00000023892 chr6:35310567-35310567;C/G missense_variant False DEF8@p.E107Q 1 0.228571429 ENSG00000140995 chr16:89955180-89955180;G/C missense_variant False DEF8@p.E112Q 1 0.19047619 ENSG00000140995 chr16:89955195-89955195;G/C missense_variant False DEF8@p.E189K 1 0.076923077 ENSG00000140995 chr16:89959023-89959023;G/A missense_variant False DDX42@p.S744L 1 0.647058824 ENSG00000198231 chr17:63817812-63817812;C/T missense_variant False DDX42@p.S625F 1 0.351351351 ENSG00000198231 chr17:63813426-63813426;C/T missense_variant False DDX42@p.R269W 1 0.4 ENSG00000198231 chr17:63806613-63806613;C/T missense_variant False DDX17@p.D332H 1 0.330275229 ENSG00000100201 chr22:38494933-38494933;C/G missense_variant False DDX17@p.S672L 1 0.545454545 ENSG00000100201 chr22:38486110-38486110;G/A missense_variant False DDX17@p.S400T 1 0.119402985 ENSG00000100201 chr22:38494645-38494645;C/G missense_variant False DDX17@p.R684G 1 0.232758621 ENSG00000100201 chr22:38486075-38486075;G/C missense_variant False DDX17@p.G590E 1 0.238095238 ENSG00000100201 chr22:38486356-38486356;C/T missense_variant False DDX17@p.E583K 1 0.323529412 ENSG00000100201 chr22:38486378-38486378;C/T missense_variant False DDX17@p.E126K 1 0.066666667 ENSG00000100201 chr22:38501192-38501192;C/T missense_variant False DDX11@p.S753C 1 0.206896552 ENSG00000013573 chr12:31102298-31102298;C/G missense_variant False DDX11@p.E224K 1 0.277777778 ENSG00000013573 chr12:31087969-31087969;G/A missense_variant False DDX11@p.R284C 1 0.382978723 ENSG00000013573 chr12:31089460-31089460;C/T missense_variant False DDX11@p.M779I 1 0.509433962 ENSG00000013573 chr12:31102492-31102492;G/A missense_variant False DDX11@p.I41V 1 0.46 ENSG00000013573 chr12:31078514-31078514;A/G missense_variant False DDX11@p.E762Q 1 0.07027027 ENSG00000013573 chr12:31102439-31102439;G/C missense_variant False DDX11@p.E66Q 1 0.547619048 ENSG00000013573 chr12:31083864-31083864;G/C missense_variant False DDX11@p.E24K 1 0.192982456 ENSG00000013573 chr12:31078463-31078463;G/A missense_variant False DDX18@p.D336H 1 0.189189189 ENSG00000088205 chr2:117822201-117822201;G/C missense_variant False DDX18@p.E158K 1 0.263157895 ENSG00000088205 chr2:117819750-117819750;G/A missense_variant False DDX18@p.E550K 1 0.142857143 ENSG00000088205 chr2:117828961-117828961;G/A missense_variant False DDX18@p.K114N 1 0.37037037 ENSG00000088205 chr2:117817700-117817700;G/C missense_variant False DDX18@p.M275I 1 0.302631579 ENSG00000088205 chr2:117821935-117821935;G/C missense_variant False DDX18@p.R424Q 1 0.230769231 ENSG00000088205 chr2:117825004-117825004;G/A missense_variant False DDX18@p.R51T 1 0.109090909 ENSG00000088205 chr2:117817510-117817510;G/C missense_variant False DDX18@p.S178L 1 0.283018868 ENSG00000088205 chr2:117821179-117821179;C/T missense_variant False DDX19A@p.E182Q 1 0.063829787 ENSG00000168872 chr16:70365071-70365071;G/C missense_variant False DDX19A@p.E318K 1 0.155339806 ENSG00000168872 chr16:70366793-70366793;G/A missense_variant False DDX19A@p.Q255H 1 0.710382514 ENSG00000168872 chr16:70366245-70366245;G/C missense_variant False DDX19B@p.A58V 1 0.258064516 ENSG00000260537 chr16:70315981-70315981;C/T missense_variant False DDX19B@p.E183Q 1 0.63961039 ENSG00000260537 chr16:70325628-70325628;G/C missense_variant False DDX19B@p.K193Q 1 0.052631579 ENSG00000260537 chr16:70325658-70325658;A/C missense_variant False DDX19B@p.Q261E 1 0.340659341 ENSG00000260537 chr16:70329465-70329465;C/G missense_variant False DDX1@p.D180H 1 0.087719298 ENSG00000079785 chr2:15603876-15603876;G/C missense_variant False DDX1@p.E217D 1 0.459677419 ENSG00000079785 chr2:15605975-15605975;A/C missense_variant False DDX11@p.E224Q 1 0.20754717 ENSG00000013573 chr12:31087969-31087969;G/C missense_variant False DDX10@p.T610* 1 0.225806452 ENSG00000178105 chr11:108723319-108723320;-/CTAA frameshift_variant False DDX1@p.N480D 1 0.279069767 ENSG00000079785 chr2:15621107-15621107;A/G missense_variant False DDIT4L@p.K120T 1 0.111111111 ENSG00000145358 chr4:100187900-100187900;T/G missense_variant False DDR1@p.D468N 1 0.050847458 ENSG00000204580 chr6:30894560-30894560;G/A missense_variant False DDR1@p.A533T 1 0.245098039 ENSG00000204580 chr6:30895487-30895487;G/A missense_variant False DDOST@p.E318D 1 0.095238095 ENSG00000244038 chr1:20653666-20653666;C/G missense_variant False DDN@p.W405C 1 0.173333333 ENSG00000181418 chr12:48997661-48997661;C/G missense_variant False DDN@p.I455V 1 0.111111111 ENSG00000181418 chr12:48997513-48997513;T/C missense_variant False DDN@p.H570R 1 0.095238095 ENSG00000181418 chr12:48997167-48997167;T/C missense_variant False DDIT4L@p.E50K 1 0.371900826 ENSG00000145358 chr4:100188111-100188111;C/T missense_variant False DDX10@p.R331Q 1 0.445544554 ENSG00000178105 chr11:108691892-108691892;G/A missense_variant False DDIT4@p.S32L 1 0.217391304 ENSG00000168209 chr10:72274311-72274311;C/T missense_variant False DDIT4@p.S224L 1 0.3125 ENSG00000168209 chr10:72275160-72275160;C/T missense_variant False DDIT3@p.P80L 1 0.161904762 ENSG00000285133 chr12:57517080-57517080;G/A missense_variant False DDIAS@p.T469S 1 0.4375 ENSG00000165490 chr11:82932743-82932743;A/T missense_variant False DDIAS@p.S618P 1 0.112903226 ENSG00000165490 chr11:82933190-82933190;T/C missense_variant False DDIAS@p.R3K 1 0.164179104 ENSG00000165490 chr11:82914746-82914746;G/A missense_variant False DDR1@p.E618K 1 0.176923077 ENSG00000204580 chr6:30896848-30896848;G/A missense_variant False DDR1@p.E672Q 1 0.224719101 ENSG00000204580 chr6:30897395-30897395;G/C missense_variant False DDR2@p.P252L 1 0.173076923 ENSG00000162733 chr1:162759879-162759879;C/T missense_variant False DDR2@p.Q851K 1 0.103448276 ENSG00000162733 chr1:162780229-162780229;C/A missense_variant False DDR2@p.R31C 1 0.274509804 ENSG00000162733 chr1:162753103-162753103;C/T missense_variant False DDR2@p.R489L 1 0.111111111 ENSG00000162733 chr1:162770474-162770474;G/T missense_variant False DDR2@p.S173C 1 0.197802198 ENSG00000162733 chr1:162755256-162755256;C/G missense_variant False DDR2@p.S215C 1 0.206278027 ENSG00000162733 chr1:162755742-162755742;C/G missense_variant False DDR2@p.T233I 1 0.295454545 ENSG00000162733 chr1:162759822-162759822;C/T missense_variant False DDR2@p.Y217C 1 0.571428571 ENSG00000162733 chr1:162755748-162755748;A/G missense_variant False DDRGK1@p.R286Q 1 0.192307692 ENSG00000198171 chr20:3190741-3190741;C/T missense_variant False DDTL@p.R111T 1 0.145833333 ENSG00000099977 chr22:23971333-23971333;G/C missense_variant False DDX10@p.E394K 1 0.25 ENSG00000178105 chr11:108693557-108693557;G/A missense_variant False DDX10@p.E585D 1 0.208333333 ENSG00000178105 chr11:108723252-108723252;A/C missense_variant False DDX10@p.E591Q 1 0.529411765 ENSG00000178105 chr11:108723268-108723268;G/C missense_variant False DDX10@p.E594D 1 0.484848485 ENSG00000178105 chr11:108723279-108723279;G/T missense_variant False DDX10@p.P436L 1 0.14893617 ENSG00000178105 chr11:108706822-108706822;C/T missense_variant False DDX1@p.G121W 1 0.25 ENSG00000079785 chr2:15602601-15602601;G/T missense_variant False DDX20@p.D198N 1 0.313131313 ENSG00000064703 chr1:111760500-111760500;G/A missense_variant False DDX42@p.K895N 1 0.383928571 ENSG00000198231 chr17:63818266-63818266;G/C missense_variant False DDX39A@p.S327L 1 0.365591398 ENSG00000123136 chr19:14409442-14409442;G/A missense_variant False DDX3X@p.A598S 1 0.774193548 ENSG00000215301 chrX:41347337-41347337;G/T missense_variant False DDX39B@p.L231F 1 0.181208054 ENSG00000198563 chr6:31535409-31535409;C/G missense_variant False DDX39B@p.K270T 1 0.296296296 ENSG00000198563 chr6:31532838-31532838;T/G missense_variant False DDX39B@p.E394K 1 0.193548387 ENSG00000198563 chr6:31530869-31530869;C/T missense_variant False DDX39B@p.E28K 1 0.117647059 ENSG00000198563 chr6:31540451-31540451;C/T missense_variant False DDX39A@p.S391F 1 0.453488372 ENSG00000123136 chr19:14409132-14409132;G/A missense_variant False DDX31@p.S422L 1 0.357142857 ENSG00000125485 chr9:132648206-132648206;G/A missense_variant False DDX25@p.R160T 1 0.156716418 ENSG00000109832 chr11:125908475-125908475;G/C missense_variant False DDX31@p.S380C 1 0.2625 ENSG00000125485 chr9:132648469-132648469;T/A missense_variant False DDX31@p.P465T 1 0.361702128 ENSG00000125485 chr9:132646948-132646948;G/T missense_variant False DDX31@p.E427K 1 0.119047619 ENSG00000125485 chr9:132648192-132648192;C/T missense_variant False DDX28@p.F128Lfs*143 1 0.25 ENSG00000182810 chr16:68022819-68022819;A/- frameshift_variant False DDX27@p.T94M 1 0.485714286 ENSG00000124228 chr20:49221546-49221546;C/T missense_variant False DDX27@p.S746F 1 0.427350427 ENSG00000124228 chr20:49242621-49242621;C/T missense_variant False DDX3X@p.D328H 1 0.433121019 ENSG00000215301 chrX:41344359-41344359;G/C missense_variant False DDX3X@p.G648E 1 0.222222222 ENSG00000215301 chrX:41347676-41347676;G/A missense_variant False DDX3X@p.G79Efs*3 1 0.118421053 ENSG00000215301 chrX:41341570-41341571;GG/- frameshift_variant False DDX3X@p.M253I 1 0.488372093 ENSG00000215301 chrX:41343819-41343819;G/A missense_variant False DDX3X@p.P518_S519delinsR 1 0.108433735 ENSG00000215301 chrX:41346563-41346565;CAA/- inframe_deletion False DDX3X@p.R125P 1 0.181818182 ENSG00000215301 chrX:41342587-41342587;G/C missense_variant False DDX3X@p.R362K 1 0.113207547 ENSG00000215301 chrX:41345242-41345242;G/A missense_variant False DDX3X@p.R631K 1 0.313432836 ENSG00000215301 chrX:41347437-41347437;G/A missense_variant False DDX3X@p.S23F 1 0.166666667 ENSG00000215301 chrX:41337430-41337430;C/T missense_variant False DDX3X@p.S613Qfs*17 1 0.563636364 ENSG00000215301 chrX:41347378-41347379;-/T frameshift_variant False DDX42@p.E122Q 1 0.101910828 ENSG00000198231 chr17:63792554-63792554;G/C missense_variant False DDX42@p.E375Q 1 0.333333333 ENSG00000198231 chr17:63808919-63808919;G/C missense_variant False DDX42@p.E80K 1 0.313131313 ENSG00000198231 chr17:63792428-63792428;G/A missense_variant False DDX42@p.E823D 1 0.189873418 ENSG00000198231 chr17:63818050-63818050;G/C missense_variant False DDX42@p.E94K 1 0.39516129 ENSG00000198231 chr17:63792470-63792470;G/A missense_variant False DDX42@p.F307L 1 0.125 ENSG00000198231 chr17:63807798-63807798;C/A missense_variant False DDX42@p.H205D 1 0.093862816 ENSG00000198231 chr17:63800609-63800609;C/G missense_variant False DDX27@p.K738N 1 0.149700599 ENSG00000124228 chr20:49242598-49242598;G/C missense_variant False DDX24@p.R463Q 1 0.170212766 ENSG00000089737 chr14:94060922-94060922;C/T missense_variant False DDX20@p.M546I 1 0.161290323 ENSG00000064703 chr1:111766062-111766062;G/A missense_variant False DDX21@p.E477K 1 0.482758621 ENSG00000165732 chr10:68971933-68971933;G/A missense_variant False DDX23@p.H803Y 1 0.047619048 ENSG00000174243 chr12:48830525-48830525;G/A missense_variant False DDX21@p.R318L 1 0.073170732 ENSG00000165732 chr10:68967066-68967066;G/T missense_variant False DDX21@p.R24Q 1 0.3 ENSG00000165732 chr10:68956296-68956296;G/A missense_variant False DDX21@p.Q438E 1 0.358208955 ENSG00000165732 chr10:68970276-68970276;C/G missense_variant False DDX21@p.G677E 1 0.390909091 ENSG00000165732 chr10:68978969-68978969;G/A missense_variant False DDX21@p.E519Q 1 0.591549296 ENSG00000165732 chr10:68973551-68973551;G/C missense_variant False DDX20@p.Y776H 1 0.394366197 ENSG00000064703 chr1:111766750-111766750;T/C missense_variant False DDX24@p.L245V 1 0.213333333 ENSG00000089737 chr14:94062607-94062607;G/C missense_variant False DDX20@p.S86W 1 0.4 ENSG00000064703 chr1:111756181-111756181;C/G missense_variant False DDX20@p.S792F 1 0.436170213 ENSG00000064703 chr1:111766799-111766799;C/T missense_variant False DDX20@p.S505L 1 0.3125 ENSG00000064703 chr1:111765938-111765938;C/T missense_variant False DDX20@p.S148F 1 0.246575342 ENSG00000064703 chr1:111759446-111759446;C/T missense_variant False DDX20@p.R259T 1 0.242105263 ENSG00000064703 chr1:111760801-111760801;G/C missense_variant False DDX20@p.Q484E 1 0.112359551 ENSG00000064703 chr1:111765874-111765874;C/G missense_variant False DDX23@p.I658M 1 0.842105263 ENSG00000174243 chr12:48832168-48832168;G/C missense_variant False DDX23@p.K345N 1 0.038869258 ENSG00000174243 chr12:48836770-48836770;C/G missense_variant False DDX23@p.K760N 1 0.363636364 ENSG00000174243 chr12:48830652-48830652;C/G missense_variant False DDX23@p.M557V 1 0.180722892 ENSG00000174243 chr12:48833411-48833411;T/C missense_variant False DDX23@p.Q482E 1 0.239263804 ENSG00000174243 chr12:48834436-48834436;G/C missense_variant False DDX23@p.Q673H 1 0.387096774 ENSG00000174243 chr12:48832123-48832123;C/G missense_variant False DDX23@p.R263Q 1 0.541666667 ENSG00000174243 chr12:48837359-48837359;C/T missense_variant False DDX23@p.R374H 1 0.255172414 ENSG00000174243 chr12:48836684-48836684;C/T missense_variant False DDX23@p.R391L 1 0.415929204 ENSG00000174243 chr12:48836633-48836633;C/A missense_variant False DDX23@p.S165C 1 0.189427313 ENSG00000174243 chr12:48838067-48838067;G/C missense_variant False DDX24@p.D35N 1 0.202380952 ENSG00000089737 chr14:94079640-94079640;C/T missense_variant False DDX24@p.D362N 1 0.327272727 ENSG00000089737 chr14:94062256-94062256;C/T missense_variant False DDX24@p.E292K 1 0.208333333 ENSG00000089737 chr14:94062466-94062466;C/T missense_variant False DDX24@p.E294K 1 0.163265306 ENSG00000089737 chr14:94062460-94062460;C/T missense_variant False DDX24@p.E364Q 1 0.272189349 ENSG00000089737 chr14:94062250-94062250;C/G missense_variant False DDX24@p.E478K 1 0.220588235 ENSG00000089737 chr14:94060579-94060579;C/T missense_variant False DDX24@p.E631Q 1 0.508333333 ENSG00000089737 chr14:94060120-94060120;C/G missense_variant False DCAF4L2@p.A40T 1 0.302325581 ENSG00000176566 chr8:87873854-87873854;C/T missense_variant False DCAF4L1@p.I101M 1 0.088607595 ENSG00000182308 chr4:41982095-41982095;C/G missense_variant False CXCR4@p.K310E 1 0.150943396 ENSG00000121966 chr2:136115000-136115000;T/C missense_variant False CYP2C19@p.L195V 1 0.128342246 ENSG00000165841 chr10:94780600-94780600;C/G missense_variant False CYP2C8@p.I485M 1 0.260869565 ENSG00000138115 chr10:95037146-95037146;G/C missense_variant False CYP2C8@p.E300D 1 0.355140187 ENSG00000138115 chr10:95045871-95045871;C/A missense_variant False CYP2C19@p.S180F 1 0.22826087 ENSG00000165841 chr10:94780556-94780556;C/T missense_variant False CYP2C19@p.R433W 1 0.122807018 ENSG00000165841 chr10:94852738-94852738;C/T missense_variant False CYP2C19@p.P174L 1 0.111864407 ENSG00000165841 chr10:94780538-94780538;C/T missense_variant False CYP2C19@p.N403K 1 0.087378641 ENSG00000165841 chr10:94849976-94849976;C/A missense_variant False CYP2C19@p.E155D 1 0.138461538 ENSG00000165841 chr10:94775523-94775523;G/C missense_variant False CYP2C9@p.D188H 1 0.345238095 ENSG00000138109 chr10:94947859-94947859;G/C missense_variant False CYP2C18@p.R150H 1 0.38317757 ENSG00000108242 chr10:94688242-94688242;G/A missense_variant False CYP2C18@p.L195F 1 0.078947368 ENSG00000108242 chr10:94695018-94695018;C/T missense_variant False CYP2C18@p.K200N 1 0.279069767 ENSG00000108242 chr10:94695035-94695035;A/T missense_variant False CYP2C18@p.I327T 1 0.136904762 ENSG00000108242 chr10:94724364-94724364;T/C missense_variant False CYP2C18@p.E122D 1 0.452054795 ENSG00000108242 chr10:94688159-94688159;G/C missense_variant False CYP2C18@p.D256V 1 0.290322581 ENSG00000108242 chr10:94706908-94706908;A/T missense_variant False CYP2C8@p.R333K 1 0.467889908 ENSG00000138115 chr10:95043041-95043041;C/T missense_variant False CYP2C9@p.T130M 1 0.442307692 ENSG00000138109 chr10:94942249-94942249;C/T missense_variant False CYP4F3@p.I225M 1 0.216828479 ENSG00000186529 chr19:15649940-15649940;C/G missense_variant False CYP2F1@p.G71E 1 0.198473282 ENSG00000197446 chr19:41116495-41116495;G/A missense_variant False CYP2R1@p.N373S 1 0.42 ENSG00000186104 chr11:14879326-14879326;T/C missense_variant False CYP2R1@p.M487I 1 0.511363636 ENSG00000186104 chr11:14878167-14878167;C/G missense_variant False CYP2J2@p.V59M 1 0.469135802 ENSG00000134716 chr1:59926572-59926572;C/T missense_variant False CYP2J2@p.P115A 1 0.101449275 ENSG00000134716 chr1:59915968-59915968;G/C missense_variant False CYP2F1@p.V16I 1 0.116883117 ENSG00000197446 chr19:41116234-41116234;G/A missense_variant False CYP2F1@p.I202M 1 0.2 ENSG00000197446 chr19:41121579-41121579;C/G missense_variant False CYP2F1@p.E439K 1 0.421052632 ENSG00000197446 chr19:41127921-41127921;G/A missense_variant False CYP2D6@p.E89K 1 0.518518519 ENSG00000100197 chr22:42129825-42129825;C/T missense_variant False CYP2F1@p.D26H 1 0.190839695 ENSG00000197446 chr19:41116264-41116264;G/C missense_variant False CYP2E1@p.G439V 1 0.149253731 ENSG00000130649 chr10:133538798-133538798;G/T missense_variant False CYP2E1@p.F427L 1 0.5 ENSG00000130649 chr10:133537876-133537876;C/G missense_variant False CYP2E1@p.E346Q 1 0.25 ENSG00000130649 chr10:133537131-133537131;G/C missense_variant False CYP2E1@p.E244V 1 0.238461538 ENSG00000130649 chr10:133532774-133532774;A/T missense_variant False CYP2D6@p.M377I 1 0.25 ENSG00000100197 chr22:42127489-42127489;C/T missense_variant False CYP2B6@p.Q357H 1 0.380952381 ENSG00000197408 chr19:41012404-41012404;G/C missense_variant False CYP2B6@p.P410L 1 0.174825175 ENSG00000197408 chr19:41012750-41012750;C/T missense_variant False CYP2B6@p.F202L 1 0.38372093 ENSG00000197408 chr19:41007026-41007026;C/G missense_variant False CYP27B1@p.W17Sfs*308 1 0.248 ENSG00000111012 chr12:57766970-57766992;GGAGGCGCCCAACTCGGGCGCCC/- frameshift_variant False CYP2A13@p.R101Q 1 0.161290323 ENSG00000197838 chr19:41089050-41089050;G/A missense_variant False CYP2A13@p.L6R 1 0.269230769 ENSG00000197838 chr19:41088488-41088488;T/G missense_variant False CYP27C1@p.R250L 1 0.113207547 ENSG00000186684 chr2:127193838-127193838;C/A missense_variant False CYP27C1@p.L262V 1 0.5 ENSG00000186684 chr2:127193803-127193803;G/C missense_variant False CYP27C1@p.I341M 1 0.631578947 ENSG00000186684 chr2:127187367-127187367;G/C missense_variant False CYP27C1@p.E209Q 1 0.391891892 ENSG00000186684 chr2:127195429-127195429;C/G missense_variant False CYP27B1@p.R271Q 1 0.224489796 ENSG00000111012 chr12:57764905-57764905;C/T missense_variant False CYP2B6@p.F169L 1 0.62962963 ENSG00000197408 chr19:41006927-41006927;C/A missense_variant False CYP27B1@p.L370V 1 0.25 ENSG00000111012 chr12:57764406-57764406;G/C missense_variant False CYP27B1@p.L202V 1 0.3 ENSG00000111012 chr12:57765197-57765197;G/C missense_variant False CYP27B1@p.G248W 1 0.202702703 ENSG00000111012 chr12:57765059-57765059;C/A missense_variant False CYP27B1@p.E20K 1 0.338709677 ENSG00000111012 chr12:57766984-57766984;C/T missense_variant False CYP27A1@p.P125S 1 0.138157895 ENSG00000135929 chr2:218809694-218809694;C/T missense_variant False CYP27A1@p.P125L 1 0.12987013 ENSG00000135929 chr2:218809695-218809695;C/T missense_variant False CYP2A13@p.R400T 1 0.066666667 ENSG00000197838 chr19:41094996-41094996;G/C missense_variant False CYP2A6@p.D169N 1 0.163522013 ENSG00000255974 chr19:40848368-40848368;C/T missense_variant False CYP2A6@p.E221Q 1 0.441176471 ENSG00000255974 chr19:40847045-40847045;C/G missense_variant False CYP2A6@p.E285Q 1 0.063636364 ENSG00000255974 chr19:40846076-40846076;C/G missense_variant False CYP2A6@p.L20F 1 0.124031008 ENSG00000255974 chr19:40850367-40850367;C/G missense_variant False CYP2A6@p.R143Q 1 0.125 ENSG00000255974 chr19:40848679-40848679;C/T missense_variant False CYP2A6@p.S270C 1 0.112359551 ENSG00000255974 chr19:40846897-40846897;G/C missense_variant False CYP2A7@p.E221Q 1 0.216216216 ENSG00000198077 chr19:40878930-40878930;C/G missense_variant False CYP2A7@p.F343L 1 0.435483871 ENSG00000198077 chr19:40877324-40877324;A/G missense_variant False CYP2A7@p.G243R 1 0.3125 ENSG00000198077 chr19:40878864-40878864;C/G missense_variant False CYP2A7@p.K250N 1 0.217948718 ENSG00000198077 chr19:40878841-40878841;C/G missense_variant False CYP2A7@p.K28N 1 0.220588235 ENSG00000198077 chr19:40882127-40882127;C/G missense_variant False CYP2A7@p.R372C 1 0.310526316 ENSG00000198077 chr19:40877237-40877237;G/A missense_variant False CYP2A7@p.V306G 1 0.173913043 ENSG00000198077 chr19:40877908-40877908;A/C missense_variant False CYP2B6@p.A407S 1 0.520661157 ENSG00000197408 chr19:41012740-41012740;G/T missense_variant False CYP2B6@p.A425D 1 0.472924188 ENSG00000197408 chr19:41012795-41012795;C/A missense_variant False CYP2B6@p.D192H 1 0.216666667 ENSG00000197408 chr19:41006994-41006994;G/C missense_variant False CYP2R1@p.R67T 1 0.076923077 ENSG00000186104 chr11:14892006-14892006;C/G missense_variant False CYP2S1@p.D112H 1 0.276595745 ENSG00000167600 chr19:41194700-41194700;G/C missense_variant False CYP2S1@p.M294I 1 0.661290323 ENSG00000167600 chr19:41201278-41201278;G/A missense_variant False CYP4A22@p.S4C 1 0.27826087 ENSG00000162365 chr1:47137496-47137496;C/G missense_variant False CYP4B1@p.S427C 1 0.130136986 ENSG00000142973 chr1:46818141-46818141;C/G missense_variant False CYP4B1@p.M193I 1 0.144927536 ENSG00000142973 chr1:46813565-46813565;G/T missense_variant False CYP4B1@p.L490F 1 0.223076923 ENSG00000142973 chr1:46818746-46818746;C/T missense_variant False CYP4B1@p.F181L 1 0.168141593 ENSG00000142973 chr1:46813529-46813529;C/G missense_variant False CYP4B1@p.D217N 1 0.465408805 ENSG00000142973 chr1:46813940-46813940;G/A missense_variant False CYP4A22@p.V5F 1 0.361702128 ENSG00000162365 chr1:47137498-47137498;G/T missense_variant False CYP4A22@p.Q36E 1 0.169491525 ENSG00000162365 chr1:47137591-47137591;C/G missense_variant False CYP46A1@p.W50R 1 0.387387387 ENSG00000036530 chr14:99691109-99691109;T/C missense_variant False CYP4A22@p.M232I 1 0.31884058 ENSG00000162365 chr1:47143822-47143822;G/C missense_variant False CYP4A22@p.G390E 1 0.111111111 ENSG00000162365 chr1:47144917-47144917;G/A missense_variant False CYP4A11@p.R391T 1 0.12962963 ENSG00000187048 chr1:46933996-46933996;C/G missense_variant False CYP4A11@p.E479Q 1 0.070652174 ENSG00000187048 chr1:46930240-46930240;C/G missense_variant False CYP4A11@p.E392Q 1 0.441176471 ENSG00000187048 chr1:46933994-46933994;C/G missense_variant False CYP4A11@p.E314K 1 0.3 ENSG00000187048 chr1:46934324-46934324;C/T missense_variant False CYP4B1@p.S66Efs*31 1 0.215189873 ENSG00000142973 chr1:46810818-46810819;-/G frameshift_variant False CYP4F11@p.C276Y 1 0.386666667 ENSG00000171903 chr19:15923903-15923903;C/T missense_variant False CYP4F11@p.R149W 1 0.08 ENSG00000171903 chr19:15927292-15927292;G/A missense_variant False CYP4F12@p.A118V 1 0.27037037 ENSG00000186204 chr19:15680253-15680253;C/T missense_variant False CYP4F12@p.I398M 1 0.086206897 ENSG00000186204 chr19:15696014-15696014;C/G missense_variant False CYP4F12@p.L456V 1 0.385786802 ENSG00000186204 chr19:15696481-15696481;C/G missense_variant False CYP4F12@p.R276C 1 0.295698925 ENSG00000186204 chr19:15683671-15683671;C/T missense_variant False CYP4F12@p.R57Q 1 0.306306306 ENSG00000186204 chr19:15673699-15673699;G/A missense_variant False CYP4F22@p.D453Y 1 0.175438596 ENSG00000171954 chr19:15550695-15550695;G/T missense_variant False CYP4F22@p.I426M 1 0.458333333 ENSG00000171954 chr19:15549145-15549145;C/G missense_variant False CYP4F2@p.D265N 1 0.284518828 ENSG00000186115 chr19:15889548-15889548;C/T missense_variant False CYP4F2@p.E184Q 1 0.208333333 ENSG00000186115 chr19:15890409-15890409;C/G missense_variant False CYP4F2@p.P437S 1 0.306451613 ENSG00000186115 chr19:15879609-15879609;G/A missense_variant False CYP4F2@p.R490C 1 0.448275862 ENSG00000186115 chr19:15878866-15878866;G/A missense_variant False CYP4F2@p.V14L 1 0.180327869 ENSG00000186115 chr19:15897572-15897572;C/G missense_variant False CYP4F3@p.D252N 1 0.266055046 ENSG00000186529 chr19:15650019-15650019;G/A missense_variant False CYP4F3@p.D285N 1 0.352941176 ENSG00000186529 chr19:15650118-15650118;G/A missense_variant False CYP4A11@p.D14N 1 0.444444444 ENSG00000187048 chr1:46941394-46941394;C/T missense_variant False CYP46A1@p.R435H 1 0.290909091 ENSG00000036530 chr14:99726228-99726228;G/A missense_variant False CYP2S1@p.P403S 1 0.189655172 ENSG00000167600 chr19:41206000-41206000;C/T missense_variant False CYP3A43@p.M207I 1 0.24 ENSG00000021461 chr7:99849645-99849645;G/A missense_variant False CYP3A4@p.F74L 1 0.429906542 ENSG00000160868 chr7:99772686-99772686;A/C missense_variant False CYP3A4@p.E63D 1 0.352941176 ENSG00000160868 chr7:99778057-99778057;T/G missense_variant False CYP3A4@p.E417Q 1 0.21875 ENSG00000160868 chr7:99762045-99762045;C/G missense_variant False CYP3A4@p.E262K 1 0.31147541 ENSG00000160868 chr7:99767145-99767145;C/T missense_variant False CYP3A4@p.E122K 1 0.101123596 ENSG00000160868 chr7:99770190-99770190;C/T missense_variant False CYP3A43@p.P135A 1 0.367647059 ENSG00000021461 chr7:99847572-99847572;C/G missense_variant False CYP3A43@p.L249F 1 0.168831169 ENSG00000021461 chr7:99855667-99855667;A/T missense_variant False CYP46A1@p.G56D 1 0.369747899 ENSG00000036530 chr14:99691128-99691128;G/A missense_variant False CYP3A43@p.K378N 1 0.2 ENSG00000021461 chr7:99861720-99861720;G/C missense_variant False CYP3A43@p.E294K 1 0.120218579 ENSG00000021461 chr7:99859844-99859844;G/A missense_variant False CYP39A1@p.P6Q 1 0.248648649 ENSG00000146233 chr6:46652566-46652566;G/T missense_variant False CYP39A1@p.D294N 1 0.562111801 ENSG00000146233 chr6:46625469-46625469;C/T missense_variant False CYP39A1@p.D200H 1 0.555555556 ENSG00000146233 chr6:46637869-46637869;C/G missense_variant False CYP2W1@p.R251Q 1 0.428571429 ENSG00000073067 chr7:986730-986730;G/A missense_variant False CYP3A4@p.L506V 1 0.178571429 ENSG00000160868 chr7:99758222-99758222;G/C missense_variant False CYP3A4@p.Q515E 1 0.043103448 ENSG00000160868 chr7:99758195-99758195;G/C missense_variant False CYP3A4@p.R471K 1 0.396825397 ENSG00000160868 chr7:99760916-99760916;C/T missense_variant False CYP3A5@p.E63K 1 0.06185567 ENSG00000106258 chr7:99674564-99674564;C/T missense_variant False CYP3A5@p.I456M 1 0.301886792 ENSG00000106258 chr7:99650118-99650118;G/C missense_variant False CYP3A5@p.M444I 1 0.263473054 ENSG00000106258 chr7:99650154-99650154;C/T missense_variant False CYP3A5@p.P218A 1 0.467741935 ENSG00000106258 chr7:99665184-99665184;G/C missense_variant False CYP3A5@p.P389S 1 0.214285714 ENSG00000106258 chr7:99652641-99652641;G/A missense_variant False CYP3A5@p.Q273K 1 0.351351351 ENSG00000106258 chr7:99662864-99662864;G/T missense_variant False CYP3A5@p.V394M 1 0.736842105 ENSG00000106258 chr7:99652626-99652626;C/T missense_variant False CYP3A7@p.E165Q 1 0.130434783 ENSG00000160870 chr7:99717205-99717205;C/G missense_variant False CYP3A7@p.E374D 1 0.142857143 ENSG00000160870 chr7:99709166-99709166;C/G missense_variant False CYP3A7@p.F228L 1 0.253333333 ENSG00000160870 chr7:99714669-99714669;G/T missense_variant False CYP3A7@p.L449V 1 0.508547009 ENSG00000160870 chr7:99707883-99707883;G/C missense_variant False CYP3A7@p.R162Q 1 0.191616766 ENSG00000160870 chr7:99717213-99717213;C/T missense_variant False CYP46A1@p.E290Q 1 0.208333333 ENSG00000036530 chr14:99716160-99716160;G/C missense_variant False CYP46A1@p.G433D 1 0.572916667 ENSG00000036530 chr14:99726222-99726222;G/A missense_variant False CYP26C1@p.A250S 1 0.25 ENSG00000187553 chr10:93064423-93064423;G/T missense_variant False CYP26B1@p.S462G 1 1.0 ENSG00000003137 chr2:72132382-72132382;T/C missense_variant False CYP26B1@p.R397W 1 0.875 ENSG00000003137 chr2:72132577-72132577;G/A missense_variant False CYB5R3@p.L36F 1 0.52238806 ENSG00000100243 chr22:42636762-42636762;G/A missense_variant False CYBB@p.R157Q 1 0.575 ENSG00000165168 chrX:37793797-37793797;G/A missense_variant False CYBA@p.A75T 1 0.47826087 ENSG00000051523 chr16:88646819-88646819;C/T missense_variant False CYB5RL@p.I225M 1 0.4 ENSG00000256407 chr1:54179218-54179218;G/C missense_variant False CYB5RL@p.E12K 1 0.547826087 ENSG00000256407 chr1:54195583-54195583;C/T missense_variant False CYB5R3@p.S82L 1 0.274509804 ENSG00000100243 chr22:42630970-42630970;G/A missense_variant False CYB5R3@p.P44L 1 0.421052632 ENSG00000100243 chr22:42636737-42636737;G/A missense_variant False CYB5R3@p.D100N 1 0.243243243 ENSG00000100243 chr22:42630917-42630917;C/T missense_variant False CYB5B@p.S85F 1 0.230769231 ENSG00000103018 chr16:69447229-69447229;C/T missense_variant False CYB5R1@p.S92I 1 0.215384615 ENSG00000159348 chr1:202965957-202965957;C/A missense_variant False CYB5R1@p.E217K 1 0.3 ENSG00000159348 chr1:202963162-202963162;C/T missense_variant False CYB5R1@p.E127Q 1 0.150537634 ENSG00000159348 chr1:202965467-202965467;C/G missense_variant False CYB5D2@p.R36C 1 0.235294118 ENSG00000167740 chr17:4143861-4143861;C/T missense_variant False CYB5D2@p.D199N 1 0.228571429 ENSG00000167740 chr17:4156882-4156882;G/A missense_variant False CYB5D1@p.R18C 1 0.063829787 ENSG00000182224 chr17:7858186-7858186;C/T missense_variant False CYBC1@p.D109N 1 0.606060606 ENSG00000178927 chr17:82444565-82444565;C/T missense_variant False CYBC1@p.D177N 1 0.13253012 ENSG00000178927 chr17:82444039-82444039;C/T missense_variant False CYBC1@p.K73N 1 0.073170732 ENSG00000178927 chr17:82445943-82445943;C/G missense_variant False CYBRD1@p.P148L 1 0.359550562 ENSG00000071967 chr2:171553386-171553386;C/T missense_variant False CYC1@p.E147K 1 0.097222222 ENSG00000179091 chr8:144096236-144096236;G/A missense_variant False CYC1@p.G73R 1 0.071428571 ENSG00000179091 chr8:144095920-144095920;G/C missense_variant False CYC1@p.H98Y 1 0.181818182 ENSG00000179091 chr8:144095995-144095995;C/T missense_variant False CYC1@p.K268N 1 0.113636364 ENSG00000179091 chr8:144097065-144097065;G/C missense_variant False CYC1@p.K310R 1 0.422222222 ENSG00000179091 chr8:144097287-144097287;A/G missense_variant False CYC1@p.R308Q 1 0.41025641 ENSG00000179091 chr8:144097281-144097281;G/A missense_variant False CYC1@p.S54C 1 0.274193548 ENSG00000179091 chr8:144095864-144095864;C/G missense_variant False CYCS@p.T20N 1 0.171428571 ENSG00000172115 chr7:25124061-25124061;G/T missense_variant False CYFIP1@p.D724H 1 0.266666667 ENSG00000273749 chr15:22910618-22910618;C/G missense_variant False CYFIP1@p.F528L 1 0.41 ENSG00000273749 chr15:22917878-22917878;G/T missense_variant False CYFIP1@p.I1246M 1 0.108695652 ENSG00000273749 chr15:22870052-22870052;G/C missense_variant False CYFIP1@p.M253I 1 0.070422535 ENSG00000273749 chr15:22939228-22939228;C/G missense_variant False CYFIP1@p.Q876E 1 0.071428571 ENSG00000273749 chr15:22892940-22892940;G/C missense_variant False CYB5D1@p.L219V 1 0.284482759 ENSG00000182224 chr17:7859580-7859580;C/G missense_variant False CYB5A@p.N93K 1 0.309859155 ENSG00000166347 chr18:74260924-74260924;G/T missense_variant False CYFIP2@p.A405T 1 0.127659574 ENSG00000055163 chr5:157314446-157314446;G/A missense_variant False CXXC1@p.E96K 1 0.659574468 ENSG00000154832 chr18:50286195-50286195;C/T missense_variant False CXXC5@p.L114Pfs*7 1 0.111111111 ENSG00000171604 chr5:139680860-139680861;-/C frameshift_variant False CXXC4@p.G309R 1 0.473684211 ENSG00000168772 chr4:104490878-104490878;C/T missense_variant False CXXC1@p.S124L 1 0.367924528 ENSG00000154832 chr18:50286110-50286110;G/A missense_variant False CXXC1@p.R598C 1 0.291666667 ENSG00000154832 chr18:50282886-50282886;G/A missense_variant False CXXC1@p.R109H 1 0.315508021 ENSG00000154832 chr18:50286155-50286155;C/T missense_variant False CXXC1@p.G107Afs*82 1 0.404040404 ENSG00000154832 chr18:50286157-50286163;CCCTCCA/- frameshift_variant False CXXC1@p.E614K 1 0.341176471 ENSG00000154832 chr18:50282724-50282724;C/T missense_variant False CYB561D1@p.P209S 1 0.317073171 ENSG00000174151 chr1:109496194-109496194;C/T missense_variant False CXXC1@p.D393H 1 0.060773481 ENSG00000154832 chr18:50284406-50284406;C/G missense_variant False CXXC1@p.D281H 1 0.516666667 ENSG00000154832 chr18:50285073-50285073;C/G missense_variant False CXCR6@p.M196I 1 0.112149533 ENSG00000172215 chr3:45947069-45947069;G/A missense_variant False CXCR6@p.F86L 1 0.094736842 ENSG00000172215 chr3:45946739-45946739;C/G missense_variant False CXCR5@p.S368C 1 0.896551724 ENSG00000160683 chr11:118894647-118894647;C/G missense_variant False CXCR4@p.R183K 1 0.131313131 ENSG00000121966 chr2:136115380-136115380;C/T missense_variant False CXorf21@p.S290N 1 0.131313131 chrX:30559487-30559487;C/T missense_variant False CXorf38@p.D151H 1 0.114285714 chrX:40639029-40639029;C/G missense_variant False CXorf38@p.H91Y 1 1.0 chrX:40647087-40647087;G/A missense_variant False CXorf38@p.K16N 1 0.131578947 chrX:40647473-40647473;C/G missense_variant False CXorf38@p.L3dup 1 0.142857143 chrX:40647511-40647512;-/CAG inframe_insertion False CXorf56@p.E150K 1 0.389830508 chrX:119542528-119542528;C/T missense_variant False CXorf56@p.R55del 1 0.242857143 chrX:119560345-119560347;CCG/- inframe_deletion False CXorf58@p.H327Y 1 0.5 chrX:23939283-23939283;C/T missense_variant False CXorf58@p.S55C 1 0.177966102 chrX:23911804-23911804;C/G missense_variant False CXorf65@p.E117D 1 0.333333333 chrX:71104373-71104373;C/A missense_variant False CXorf65@p.P57S 1 0.111111111 chrX:71106081-71106081;G/A missense_variant False CXorf66@p.D285H 1 0.327160494 chrX:139956129-139956129;C/G missense_variant False CXorf66@p.E180K 1 0.30941704 chrX:139956444-139956444;C/T missense_variant False CXorf66@p.S260C 1 0.823529412 chrX:139956203-139956203;G/C missense_variant False CYB561A3@p.I25V 1 0.591836735 ENSG00000162144 chr11:61356641-61356641;T/C missense_variant False CYB561A3@p.V95F 1 0.164179104 ENSG00000162144 chr11:61353894-61353894;C/A missense_variant False CYB561D1@p.G170A 1 0.2 ENSG00000174151 chr1:109496078-109496078;G/C missense_variant False CYFIP1@p.S232C 1 0.240223464 ENSG00000273749 chr15:22939292-22939292;G/C missense_variant False CYFIP2@p.E1009K 1 0.371428571 ENSG00000055163 chr5:157361509-157361509;G/A missense_variant False CYP26B1@p.R119C 1 0.196428571 ENSG00000003137 chr2:72144063-72144063;G/A missense_variant False CYP1A2@p.G30D 1 0.157534247 ENSG00000140505 chr15:74749827-74749827;G/A missense_variant False CYP20A1@p.A282E 1 0.290322581 ENSG00000119004 chr2:203280108-203280108;C/A missense_variant False CYP1B1@p.S308L 1 0.411764706 ENSG00000138061 chr2:38074466-38074466;G/A missense_variant False CYP1B1@p.D367Y 1 0.61971831 ENSG00000138061 chr2:38071255-38071255;C/A missense_variant False CYP1A2@p.R296T 1 0.4 ENSG00000140505 chr15:74751244-74751244;G/C missense_variant False CYP1A2@p.R243G 1 0.390243902 ENSG00000140505 chr15:74750465-74750465;C/G missense_variant False CYP1A2@p.Q77H 1 0.261904762 ENSG00000140505 chr15:74749969-74749969;G/T missense_variant False CYP1A1@p.S363Y 1 0.282051282 ENSG00000140465 chr15:74721277-74721277;G/T missense_variant False CYP11B2@p.R490T 1 0.089622642 ENSG00000179142 chr8:142912023-142912023;C/G missense_variant False CYP1A1@p.D304H 1 0.138461538 ENSG00000140465 chr15:74721633-74721633;C/G missense_variant False CYP19A1@p.I106T 1 0.488636364 ENSG00000137869 chr15:51227913-51227913;A/G missense_variant False CYP19A1@p.E483K 1 0.197860963 ENSG00000137869 chr15:51210873-51210873;C/T missense_variant False CYP17A1@p.S94C 1 0.25 ENSG00000148795 chr10:102837081-102837081;G/C missense_variant False CYP17A1@p.L396V 1 0.5 ENSG00000148795 chr10:102831565-102831565;G/C missense_variant False CYP17A1@p.D387N 1 0.586206897 ENSG00000148795 chr10:102831592-102831592;C/T missense_variant False CYP20A1@p.D354N 1 0.614285714 ENSG00000119004 chr2:203289853-203289853;G/A missense_variant False CYP20A1@p.H167Y 1 0.173333333 ENSG00000119004 chr2:203266580-203266580;C/T missense_variant False CYP21A2@p.E321K 1 0.129032258 ENSG00000231852 chr6:32040427-32040427;G/A missense_variant False CYP21A2@p.L224I 1 0.347826087 ENSG00000231852 chr6:32039767-32039767;C/A missense_variant False CYP24A1@p.E315Q 1 0.372093023 ENSG00000019186 chr20:54162764-54162764;C/G missense_variant False CYP24A1@p.E443Q 1 0.074829932 ENSG00000019186 chr20:54157495-54157495;C/G missense_variant False CYP24A1@p.I286L 1 0.479166667 ENSG00000019186 chr20:54162851-54162851;T/G missense_variant False CYP24A1@p.M99I 1 0.133333333 ENSG00000019186 chr20:54173061-54173061;C/T missense_variant False CYP26A1@p.E147K 1 0.448275862 ENSG00000095596 chr10:93074803-93074803;G/A missense_variant False CYP26A1@p.E165Q 1 0.12244898 ENSG00000095596 chr10:93074857-93074857;G/C missense_variant False CYP26A1@p.E362Q 1 0.220183486 ENSG00000095596 chr10:93076628-93076628;G/C missense_variant False CYP26A1@p.G121E 1 0.064676617 ENSG00000095596 chr10:93074480-93074480;G/A missense_variant False CYP26A1@p.I100M 1 0.04973822 ENSG00000095596 chr10:93074418-93074418;C/G missense_variant False CYP26A1@p.R418Q 1 0.243243243 ENSG00000095596 chr10:93077063-93077063;G/A missense_variant False CYP26B1@p.E100K 1 0.364583333 ENSG00000003137 chr2:72144120-72144120;C/T missense_variant False CYP26B1@p.E155D 1 0.214285714 ENSG00000003137 chr2:72135384-72135384;C/G missense_variant False CYP26B1@p.H329D 1 0.322580645 ENSG00000003137 chr2:72133184-72133184;G/C missense_variant False CYP11B2@p.T326M 1 0.409090909 ENSG00000179142 chr8:142913429-142913429;G/A missense_variant False CYP11B2@p.R332Q 1 0.306603774 ENSG00000179142 chr8:142913411-142913411;C/T missense_variant False CYFIP2@p.F1030L 1 0.142857143 ENSG00000055163 chr5:157361574-157361574;C/G missense_variant False CYGB@p.R33W 1 0.227272727 ENSG00000161544 chr17:76537446-76537446;G/A missense_variant False CYLC1@p.T281A 1 0.666666667 ENSG00000183035 chrX:83873549-83873549;A/G missense_variant False CYLC1@p.S54L 1 0.769230769 ENSG00000183035 chrX:83871554-83871554;C/T missense_variant False CYLC1@p.P631H 1 0.153846154 ENSG00000183035 chrX:83874600-83874600;C/A missense_variant False CYLC1@p.L214I 1 0.307692308 ENSG00000183035 chrX:83873348-83873348;C/A missense_variant False CYLC1@p.K327R 1 0.47826087 ENSG00000183035 chrX:83873688-83873688;A/G missense_variant False CYHR1@p.H24Y 1 0.210526316 None chr8:144464832-144464832;G/A missense_variant False CYGB@p.E146K 1 0.127659574 ENSG00000161544 chr17:76531082-76531082;C/T missense_variant False CYP11B2@p.Q338H 1 0.195402299 ENSG00000179142 chr8:142913392-142913392;C/G missense_variant False CYGB@p.E11Q 1 0.142857143 ENSG00000161544 chr17:76537512-76537512;C/G missense_variant False CYGB@p.D100N 1 0.387755102 ENSG00000161544 chr17:76531537-76531537;C/T missense_variant False CYFIP2@p.R549C 1 0.352941176 ENSG00000055163 chr5:157320776-157320776;C/T missense_variant False CYFIP2@p.N176K 1 0.228571429 ENSG00000055163 chr5:157300855-157300855;C/A missense_variant False CYFIP2@p.K1226N 1 0.379310345 ENSG00000055163 chr5:157392841-157392841;G/C missense_variant False CYFIP2@p.F542L 1 0.666666667 ENSG00000055163 chr5:157320755-157320755;T/C missense_variant False CYLC2@p.D250N 1 0.138461538 ENSG00000155833 chr9:103005379-103005379;G/A missense_variant False CYLC2@p.D287N 1 0.487179487 ENSG00000155833 chr9:103005490-103005490;G/A missense_variant False CYLC2@p.E245K 1 0.185714286 ENSG00000155833 chr9:103005364-103005364;G/A missense_variant False CYLC2@p.Q53E 1 0.177777778 ENSG00000155833 chr9:103003240-103003240;C/G missense_variant False CYLC2@p.R71C 1 0.222222222 ENSG00000155833 chr9:103004725-103004725;C/T missense_variant False CYLD@p.D253N 1 0.382352941 ENSG00000083799 chr16:50751856-50751856;G/A missense_variant True CYLD@p.G347E 1 0.458333333 ENSG00000083799 chr16:50777843-50777843;G/A missense_variant True CYP11B1@p.E329Q 1 0.336448598 ENSG00000160882 chr8:142875848-142875848;C/G missense_variant False CYP11B1@p.F417S 1 0.049180328 ENSG00000160882 chr8:142875105-142875105;A/G missense_variant False CYP11B1@p.W247C 1 0.264705882 ENSG00000160882 chr8:142876740-142876740;C/G missense_variant False CYP11B2@p.A13E 1 0.218181818 ENSG00000179142 chr8:142917803-142917803;G/T missense_variant False CYP11B2@p.D317N 1 0.454545455 ENSG00000179142 chr8:142914269-142914269;C/T missense_variant False CYP11B2@p.E136Q 1 0.19047619 ENSG00000179142 chr8:142915235-142915235;C/G missense_variant False CYP11B2@p.H439Y 1 0.255319149 ENSG00000179142 chr8:142912613-142912613;G/A missense_variant False CYP11B2@p.I339M 1 0.115226337 ENSG00000179142 chr8:142913389-142913389;G/C missense_variant False CYP11B2@p.P216S 1 0.65 ENSG00000179142 chr8:142914858-142914858;G/A missense_variant False CYP11B2@p.Q272H 1 0.12195122 ENSG00000179142 chr8:142914402-142914402;C/G missense_variant False CYP4F3@p.I101M 1 0.410714286 ENSG00000186529 chr19:15645823-15645823;C/G missense_variant False CYP4F3@p.V118Kfs*23 1 0.197802198 ENSG00000186529 chr19:15647060-15647064;GTACC/- frameshift_variant False DCAF4@p.R439K 1 0.484848485 ENSG00000119599 chr14:72958633-72958633;G/A missense_variant False DAZL@p.V204A 1 0.5 ENSG00000092345 chr3:16594543-16594543;A/G missense_variant False DBF4@p.R101Q 1 0.205128205 ENSG00000006634 chr7:87885061-87885061;G/A missense_variant False DBF4@p.I412Yfs*11 1 0.090909091 ENSG00000006634 chr7:87907368-87907369;-/T frameshift_variant False DBF4@p.F411Vfs*12 1 0.136363636 ENSG00000006634 chr7:87907366-87907367;-/T frameshift_variant False DBF4@p.E406Q 1 0.132653061 ENSG00000006634 chr7:87907354-87907354;G/C missense_variant False DBF4@p.E289D 1 0.182481752 ENSG00000006634 chr7:87900821-87900821;G/C missense_variant False DBF4@p.D656H 1 0.211538462 ENSG00000006634 chr7:87908104-87908104;G/C missense_variant False DAZL@p.S251N 1 0.494444444 ENSG00000092345 chr3:16592132-16592132;C/T missense_variant False DBF4@p.S381C 1 0.194594595 ENSG00000006634 chr7:87907280-87907280;C/G missense_variant False DAZL@p.G105S 1 0.103448276 ENSG00000092345 chr3:16597033-16597033;C/T missense_variant False DAZL@p.A4T 1 0.179372197 ENSG00000092345 chr3:16598592-16598592;C/T missense_variant False DAZAP2@p.Q31E 1 0.150684932 ENSG00000183283 chr12:51240420-51240420;C/G missense_variant False DAZAP2@p.P66S 1 0.181034483 ENSG00000183283 chr12:51240934-51240934;C/T missense_variant False DAZAP1@p.S364* 1 0.234782609 ENSG00000071626 chr19:1434777-1434779;CTC/TT frameshift_variant False DAZAP1@p.E149K 1 0.31547619 ENSG00000071626 chr19:1422378-1422378;G/A missense_variant False DBF4@p.S321G 1 0.471698113 ENSG00000006634 chr7:87904328-87904328;A/G missense_variant False DBF4@p.V255I 1 0.516666667 ENSG00000006634 chr7:87900303-87900303;G/A missense_variant False CYP4F8@p.E448K 1 0.401785714 ENSG00000186526 chr19:15628788-15628788;G/A missense_variant False DBN1@p.A523T 1 0.169230769 ENSG00000113758 chr5:177458267-177458267;C/T missense_variant False DBNDD1@p.E87Q 1 0.176470588 ENSG00000003249 chr16:90008844-90008844;C/G missense_variant False DBNDD1@p.D76N 1 0.625 ENSG00000003249 chr16:90008877-90008877;C/T missense_variant False DBN1@p.P365A 1 0.222797927 ENSG00000113758 chr5:177459131-177459131;G/C missense_variant False DBN1@p.E59Q 1 0.473684211 ENSG00000113758 chr5:177468188-177468188;C/G missense_variant False DBN1@p.E584G 1 0.242647059 ENSG00000113758 chr5:177458083-177458083;T/C missense_variant False DBN1@p.D309Y 1 0.4 ENSG00000113758 chr5:177460462-177460462;C/A missense_variant False DBI@p.E11K 1 0.133333333 ENSG00000155368 chr2:119368209-119368209;G/A missense_variant False DBF4@p.Y233C 1 0.105263158 ENSG00000006634 chr7:87900238-87900238;A/G missense_variant False DBI@p.D57N 1 0.14 ENSG00000155368 chr2:119370781-119370781;G/A missense_variant False DBH@p.S45N 1 0.166666667 ENSG00000123454 chr9:133636505-133636505;G/A missense_variant False DBH@p.R329H 1 0.154929577 ENSG00000123454 chr9:133644282-133644282;G/A missense_variant False DBH@p.I234V 1 0.545454545 ENSG00000123454 chr9:133642420-133642420;A/G missense_variant False DBF4B@p.D413H 1 0.245614035 ENSG00000161692 chr17:44750642-44750642;G/C missense_variant False DBF4B@p.D334N 1 0.414634146 ENSG00000161692 chr17:44747451-44747451;G/A missense_variant False DAXX@p.S588F 1 0.08 ENSG00000204209 chr6:33319557-33319557;G/A missense_variant True DAXX@p.R633W 1 0.17114094 ENSG00000204209 chr6:33319423-33319423;G/A missense_variant True DAXX@p.P701L 1 0.369565217 ENSG00000204209 chr6:33319058-33319058;G/A missense_variant True DAPK1@p.V189L 1 0.722891566 ENSG00000196730 chr9:87639661-87639661;G/C missense_variant False DARS1@p.D57Y 1 0.269035533 ENSG00000115866 chr2:135979322-135979322;C/A missense_variant False DAPP1@p.D78Y 1 0.875 ENSG00000070190 chr4:99840296-99840296;G/T missense_variant False DAPK3@p.I61V 1 0.085714286 ENSG00000167657 chr19:3964873-3964873;T/C missense_variant False DAPK3@p.F4L 1 0.114285714 ENSG00000167657 chr19:3969724-3969724;G/C missense_variant False DAPK2@p.T88A 1 0.288888889 ENSG00000035664 chr15:63983585-63983585;T/C missense_variant False DAPK2@p.R96S 1 0.377192982 ENSG00000035664 chr15:63983561-63983561;G/T missense_variant False DAPK1@p.R1038H 1 0.35443038 ENSG00000196730 chr9:87706184-87706184;G/A missense_variant False DAXX@p.P667L 1 0.244186047 ENSG00000204209 chr6:33319160-33319160;G/A missense_variant True DAPK1@p.L431V 1 0.162790698 ENSG00000196730 chr9:87647365-87647365;C/G missense_variant False DAPK1@p.G697E 1 0.502890173 ENSG00000196730 chr9:87681492-87681492;G/A missense_variant False DAPK1@p.E656D 1 0.222543353 ENSG00000196730 chr9:87668641-87668641;G/C missense_variant False DAPK1@p.E114K 1 0.371794872 ENSG00000196730 chr9:87637998-87637998;G/A missense_variant False DAPK1@p.D536H 1 0.111111111 ENSG00000196730 chr9:87650098-87650098;G/C missense_variant False DAPK1@p.D525N 1 0.3 ENSG00000196730 chr9:87650065-87650065;G/A missense_variant False DARS1@p.E324K 1 0.076923077 ENSG00000115866 chr2:135916362-135916362;C/T missense_variant False DARS1@p.S200F 1 0.417910448 ENSG00000115866 chr2:135924464-135924464;G/A missense_variant False DARS2@p.D343H 1 0.07 ENSG00000117593 chr1:173840872-173840872;G/C missense_variant False DARS2@p.E298K 1 0.153225806 ENSG00000117593 chr1:173839418-173839418;G/A missense_variant False DARS2@p.E65Q 1 0.099009901 ENSG00000117593 chr1:173826752-173826752;G/C missense_variant False DARS2@p.K105N 1 0.052631579 ENSG00000117593 chr1:173830680-173830680;G/C missense_variant False DARS2@p.N616Pfs*3 1 0.397590361 ENSG00000117593 chr1:173857613-173857629;AATACCCCAGATTCTGT/- frameshift_variant False DARS2@p.Q73K 1 0.551020408 ENSG00000117593 chr1:173826776-173826776;C/A missense_variant False DARS2@p.R408I 1 0.146341463 ENSG00000117593 chr1:173850358-173850358;G/T missense_variant False DAW1@p.A122V 1 0.8 ENSG00000123977 chr2:227893842-227893842;C/T missense_variant False DAW1@p.D324H 1 0.178571429 ENSG00000123977 chr2:227907249-227907249;G/C missense_variant False DAW1@p.F395L 1 0.125 ENSG00000123977 chr2:227921533-227921533;C/A missense_variant False DAW1@p.L275V 1 0.333333333 ENSG00000123977 chr2:227906303-227906303;C/G missense_variant False DAW1@p.T60I 1 0.194444444 ENSG00000123977 chr2:227889921-227889921;C/T missense_variant False DAXX@p.D319E 1 0.086538462 ENSG00000204209 chr6:33320818-33320818;A/T missense_variant True DAXX@p.E62D 1 0.213636364 ENSG00000204209 chr6:33321740-33321740;C/G missense_variant True DAXX@p.P161R 1 0.265625 ENSG00000204209 chr6:33321293-33321293;G/C missense_variant True DBNDD2@p.R104Q 1 0.089041096 ENSG00000244274 chr20:45408484-45408484;G/A missense_variant False DBNDD2@p.R109H 1 0.322033898 ENSG00000244274 chr20:45408499-45408499;G/A missense_variant False DBNL@p.Q287H 1 0.2 ENSG00000136279 chr7:44059379-44059379;G/C missense_variant False DCAF12L2@p.T216N 1 0.147540984 ENSG00000198354 chrX:126165278-126165278;G/T missense_variant False DCAF13@p.Y224C 1 0.324137931 ENSG00000164934 chr8:103430658-103430658;A/G missense_variant False DCAF13@p.R350C 1 0.491935484 ENSG00000164934 chr8:103440233-103440233;C/T missense_variant False DCAF13@p.P310T 1 0.521367521 ENSG00000164934 chr8:103435768-103435768;C/A missense_variant False DCAF13@p.L237F 1 0.044117647 ENSG00000164934 chr8:103432667-103432667;A/T missense_variant False DCAF13@p.E16K 1 0.511627907 ENSG00000164934 chr8:103415492-103415492;G/A missense_variant False DCAF12L2@p.T47M 1 0.233333333 ENSG00000198354 chrX:126165785-126165785;G/A missense_variant False DCAF12L2@p.S293I 1 0.25974026 ENSG00000198354 chrX:126165047-126165047;C/A missense_variant False DCAF12L1@p.R213H 1 0.909090909 ENSG00000198889 chrX:126551971-126551971;C/T missense_variant False DCAF12L2@p.R82W 1 0.356164384 ENSG00000198354 chrX:126165681-126165681;T/A missense_variant False DCAF12L2@p.R354G 1 0.176470588 ENSG00000198354 chrX:126164865-126164865;G/C missense_variant False DCAF12L2@p.R263C 1 0.9 ENSG00000198354 chrX:126165138-126165138;G/A missense_variant False DCAF12L2@p.R246H 1 1.0 ENSG00000198354 chrX:126165188-126165188;C/T missense_variant False DCAF12L2@p.R213S 1 0.947368421 ENSG00000198354 chrX:126165288-126165288;G/T missense_variant False DCAF12L2@p.G167D 1 0.142857143 ENSG00000198354 chrX:126165425-126165425;C/T missense_variant False DCAF15@p.D131G 1 0.386792453 ENSG00000132017 chr19:13955937-13955937;A/G missense_variant False DCAF15@p.E285* 1 0.160714286 ENSG00000132017 chr19:13959105-13959106;-/C frameshift_variant False DCAF15@p.E367Q 1 0.263157895 ENSG00000132017 chr19:13959359-13959359;G/C missense_variant False DCAF16@p.E92D 1 0.072625698 ENSG00000163257 chr4:17803866-17803866;C/G missense_variant False DCAF16@p.S63F 1 0.178947368 ENSG00000163257 chr4:17803954-17803954;G/A missense_variant False DCAF17@p.D251H 1 0.06122449 ENSG00000115827 chr2:171458390-171458390;G/C missense_variant False DCAF17@p.E287Q 1 0.076923077 ENSG00000115827 chr2:171468908-171468908;G/C missense_variant False DCAF17@p.I144M 1 0.338461538 ENSG00000115827 chr2:171448791-171448791;A/G missense_variant False DCAF17@p.I426V 1 0.246575342 ENSG00000115827 chr2:171480047-171480047;A/G missense_variant False DCAF1@p.A1478V 1 0.169811321 ENSG00000145041 chr3:51403175-51403175;G/A missense_variant False DCAF1@p.D1381Y 1 0.1875 ENSG00000145041 chr3:51412450-51412450;C/A missense_variant False DCAF1@p.D367N 1 0.3125 ENSG00000145041 chr3:51440999-51440999;C/T missense_variant False DCAF1@p.I604L 1 0.365079365 ENSG00000145041 chr3:51427409-51427409;T/G missense_variant False DCAF1@p.M221I 1 0.430656934 ENSG00000145041 chr3:51441748-51441748;C/G missense_variant False DCAF1@p.R1283Q 1 0.291666667 ENSG00000145041 chr3:51414033-51414033;C/T missense_variant False DCAF1@p.R934Q 1 0.246153846 ENSG00000145041 chr3:51420169-51420169;C/T missense_variant False DCAF4@p.E74K 1 0.241071429 ENSG00000119599 chr14:72940246-72940246;G/A missense_variant False DCAF12L1@p.R90H 1 0.375 ENSG00000198889 chrX:126552340-126552340;C/T missense_variant False DCAF12L1@p.D308E 1 0.309090909 ENSG00000198889 chrX:126551685-126551685;A/T missense_variant False DBNL@p.S357C 1 0.44 ENSG00000136279 chr7:44060070-44060070;C/G missense_variant False DBT@p.R61H 1 0.096774194 ENSG00000137992 chr1:100235505-100235505;C/T missense_variant False DCAF10@p.R346I 1 0.376470588 ENSG00000122741 chr9:37854965-37854965;G/T missense_variant False DCAF10@p.D501N 1 0.222222222 ENSG00000122741 chr9:37861329-37861329;G/A missense_variant False DCAF10@p.C247R 1 0.408163265 ENSG00000122741 chr9:37842174-37842174;T/C missense_variant False DBX2@p.S288T 1 0.151079137 ENSG00000185610 chr12:45016443-45016443;C/G missense_variant False DBX1@p.Q270H 1 0.384615385 ENSG00000109851 chr11:20156436-20156436;C/G missense_variant False DBT@p.R77T 1 0.220338983 ENSG00000137992 chr1:100235457-100235457;C/G missense_variant False DBT@p.L32F 1 0.464285714 ENSG00000137992 chr1:100240840-100240840;C/A missense_variant False DCAF12L1@p.D229N 1 0.306451613 ENSG00000198889 chrX:126551924-126551924;C/T missense_variant False DBT@p.D451H 1 0.352941176 ENSG00000137992 chr1:100196353-100196353;C/G missense_variant False DBR1@p.S422F 1 0.333333333 ENSG00000138231 chr3:138162259-138162259;G/A missense_variant False DBR1@p.G97S 1 0.218978102 ENSG00000138231 chr3:138173535-138173535;C/T missense_variant False DBR1@p.D488H 1 0.165562914 ENSG00000138231 chr3:138162062-138162062;C/G missense_variant False DBP@p.S187F 1 0.247933884 ENSG00000105516 chr19:48633646-48633646;G/A missense_variant False DBP@p.E280D 1 0.424657534 ENSG00000105516 chr19:48630975-48630975;C/G missense_variant False DCAF10@p.T232S 1 0.666666667 ENSG00000122741 chr9:37842129-37842129;A/T missense_variant False DCAF11@p.E76Q 1 0.175675676 ENSG00000100897 chr14:24116987-24116987;G/C missense_variant False DCAF11@p.L42V 1 0.318584071 ENSG00000100897 chr14:24115718-24115718;C/G missense_variant False DCAF11@p.S17C 1 0.335820896 ENSG00000100897 chr14:24115644-24115644;C/G missense_variant False DCAF11@p.V268L 1 0.094650206 ENSG00000100897 chr14:24119167-24119167;G/C missense_variant False DCAF12@p.D21N 1 0.24 ENSG00000198876 chr9:34126371-34126371;C/T missense_variant False DCAF12@p.E147D 1 0.233009709 ENSG00000198876 chr9:34107458-34107458;C/G missense_variant False DCAF12@p.E298K 1 0.375 ENSG00000198876 chr9:34093418-34093418;C/T missense_variant False DCAF12@p.H100D 1 0.105263158 ENSG00000198876 chr9:34125058-34125058;G/C missense_variant False DCAF12@p.I146V 1 0.495049505 ENSG00000198876 chr9:34107463-34107463;T/C missense_variant False DCAF12@p.I167V 1 0.456692913 ENSG00000198876 chr9:34107400-34107400;T/C missense_variant False DCAF12@p.L46S 1 0.380952381 ENSG00000198876 chr9:34125219-34125219;A/G missense_variant False DCAF12@p.R223K 1 0.141304348 ENSG00000198876 chr9:34098451-34098451;C/T missense_variant False DCAF12@p.R53W 1 0.563909774 ENSG00000198876 chr9:34125199-34125199;G/A missense_variant False DCAF12@p.S442L 1 0.333333333 ENSG00000198876 chr9:34088387-34088387;G/A missense_variant False DCAF12@p.Y49F 1 0.519607843 ENSG00000198876 chr9:34125210-34125210;T/A missense_variant False DCAF12L1@p.C117R 1 0.866666667 ENSG00000198889 chrX:126552260-126552260;A/G missense_variant False DAPK1@p.D426H 1 0.282051282 ENSG00000196730 chr9:87647350-87647350;G/C missense_variant False DAPK1@p.A420V 1 0.085106383 ENSG00000196730 chr9:87647333-87647333;C/T missense_variant False DAPK1@p.A290T 1 0.181818182 ENSG00000196730 chr9:87642008-87642008;G/A missense_variant False CYTH1@p.D88N 1 0.280373832 ENSG00000108669 chr17:78702216-78702216;C/T missense_variant False CYTH2@p.P202S 1 0.09 ENSG00000105443 chr19:48474238-48474238;C/T missense_variant False CYTH2@p.E42K 1 0.165048544 ENSG00000105443 chr19:48470457-48470457;G/A missense_variant False CYTH2@p.E28K 1 0.537414966 ENSG00000105443 chr19:48470415-48470415;G/A missense_variant False CYTH1@p.G303E 1 0.265306122 ENSG00000108669 chr17:78681026-78681026;C/T missense_variant False CYTH1@p.E366Q 1 0.6 ENSG00000108669 chr17:78680212-78680212;C/G missense_variant False CYTH1@p.E308D 1 0.046875 ENSG00000108669 chr17:78681010-78681010;C/G missense_variant False CYSTM1@p.P7A 1 0.111111111 ENSG00000120306 chr5:140194484-140194484;C/G missense_variant False CYRIB@p.E178K 1 0.1875 ENSG00000153310 chr8:129852263-129852263;C/T missense_variant False CYSTM1@p.P28S 1 0.153846154 ENSG00000120306 chr5:140194547-140194547;C/T missense_variant False CYSLTR2@p.K327T 1 0.107692308 ENSG00000152207 chr13:48707797-48707797;A/C missense_variant False CYSLTR2@p.E232K 1 0.207317073 ENSG00000152207 chr13:48707511-48707511;G/A missense_variant False CYRIB@p.L300P 1 0.142857143 ENSG00000153310 chr8:129846816-129846816;A/G missense_variant False CYRIB@p.G2Hfs*4 1 0.17721519 ENSG00000153310 chr8:129879433-129879458;CATGTCAAAACTTTAAGAAGATTCCC/- frameshift_variant False CYRIB@p.E95K 1 0.278481013 ENSG00000153310 chr8:129862247-129862247;C/T missense_variant False CYTH2@p.R387T 1 0.377777778 ENSG00000105443 chr19:48479167-48479167;G/C missense_variant False CYTH3@p.E14Q 1 0.5 ENSG00000008256 chr7:6190526-6190526;C/G missense_variant False CYTH3@p.E233V 1 0.25 ENSG00000008256 chr7:6170843-6170843;T/A missense_variant False CYTH4@p.D32N 1 0.5 ENSG00000100055 chr22:37292695-37292695;G/A missense_variant False CYTH4@p.E361K 1 0.209302326 ENSG00000100055 chr22:37312143-37312143;G/A missense_variant False CYTH4@p.R205W 1 0.151515152 ENSG00000100055 chr22:37303319-37303319;C/T missense_variant False CYTIP@p.E243D 1 0.24 ENSG00000115165 chr2:157416028-157416028;C/G missense_variant False CYTL1@p.D90H 1 0.4375 ENSG00000170891 chr4:5016895-5016895;C/G missense_variant False CYTL1@p.T129M 1 0.282352941 ENSG00000170891 chr4:5015176-5015176;G/A missense_variant False CYYR1@p.T106A 1 0.065 ENSG00000166265 chr21:26480290-26480290;T/C missense_variant False CYYR1@p.V22I 1 0.245614035 ENSG00000166265 chr21:26572877-26572877;C/T missense_variant False D2HGDH@p.E352K 1 0.256410256 ENSG00000180902 chr2:241751302-241751302;G/A missense_variant False D2HGDH@p.G477A 1 0.260869565 ENSG00000180902 chr2:241767833-241767833;G/C missense_variant False D2HGDH@p.I389M 1 0.13740458 ENSG00000180902 chr2:241755875-241755875;C/G missense_variant False D2HGDH@p.S139N 1 0.125 ENSG00000180902 chr2:241742500-241742500;G/A missense_variant False DAAM1@p.D641G 1 0.486486486 ENSG00000100592 chr14:59331874-59331874;A/G missense_variant False DAAM1@p.D922N 1 0.417910448 ENSG00000100592 chr14:59363690-59363690;G/A missense_variant False CYRIB@p.E30D 1 0.138888889 ENSG00000153310 chr8:129871480-129871480;C/G missense_variant False CYRIA@p.L85V 1 0.369565217 ENSG00000197872 chr2:16564034-16564034;G/C missense_variant False DAAM1@p.E877K 1 0.260869565 ENSG00000100592 chr14:59359470-59359470;G/A missense_variant False CYP4Z1@p.H70N 1 0.41221374 ENSG00000186160 chr1:47068652-47068652;C/A missense_variant False CYP51A1@p.P357S 1 0.347826087 ENSG00000001630 chr7:92123137-92123137;G/A missense_variant False CYP51A1@p.L33V 1 0.166666667 ENSG00000001630 chr7:92134268-92134268;A/C missense_variant False CYP51A1@p.E96K 1 0.261904762 ENSG00000001630 chr7:92131779-92131779;C/T missense_variant False CYP51A1@p.A150T 1 0.260869565 ENSG00000001630 chr7:92128900-92128900;C/T missense_variant False CYP4Z1@p.R472L 1 0.339285714 ENSG00000186160 chr1:47117831-47117831;G/T missense_variant False CYP4Z1@p.L230V 1 0.154545455 ENSG00000186160 chr1:47084894-47084894;C/G missense_variant False CYP4X1@p.S436F 1 0.280701754 ENSG00000186377 chr1:47049456-47049456;C/T missense_variant False CYRIA@p.I167M 1 0.103448276 ENSG00000197872 chr2:16561468-16561468;G/C missense_variant False CYP4X1@p.L485V 1 0.3 ENSG00000186377 chr1:47050097-47050097;C/G missense_variant False CYP4X1@p.K280N 1 0.537037037 ENSG00000186377 chr1:47038724-47038724;G/C missense_variant False CYP4X1@p.E340K 1 0.243902439 ENSG00000186377 chr1:47039477-47039477;G/A missense_variant False CYP4V2@p.S347Y 1 0.461538462 ENSG00000145476 chr4:186205252-186205252;C/A missense_variant False CYP4V2@p.E407K 1 0.2 ENSG00000145476 chr4:186208993-186208993;G/A missense_variant False CYP4F8@p.F41L 1 0.114285714 ENSG00000186526 chr19:15615739-15615739;C/G missense_variant False CYP7A1@p.D213N 1 0.568627451 ENSG00000167910 chr8:58496875-58496875;C/T missense_variant False CYP7A1@p.D272Y 1 0.110344828 ENSG00000167910 chr8:58496698-58496698;C/A missense_variant False CYP7A1@p.D96Y 1 0.179104478 ENSG00000167910 chr8:58498264-58498264;C/A missense_variant False CYP7A1@p.E236D 1 0.483870968 ENSG00000167910 chr8:58496804-58496804;C/A missense_variant False CYP7A1@p.K99Nfs*27 1 0.171974522 ENSG00000167910 chr8:58498253-58498253;T/- frameshift_variant False CYP7A1@p.P404S 1 0.475 ENSG00000167910 chr8:58492358-58492358;G/A missense_variant False CYP7A1@p.S258R 1 0.060185185 ENSG00000167910 chr8:58496738-58496738;G/C missense_variant False CYP7A1@p.S268F 1 0.417322835 ENSG00000167910 chr8:58496709-58496709;G/A missense_variant False CYP7A1@p.S463C 1 0.088495575 ENSG00000167910 chr8:58491602-58491602;G/C missense_variant False CYP7B1@p.D133N 1 0.142857143 ENSG00000172817 chr8:64616144-64616144;C/T missense_variant False CYP7B1@p.E313K 1 0.230769231 ENSG00000172817 chr8:64615146-64615146;C/T missense_variant False CYP7B1@p.L60M 1 0.375 ENSG00000172817 chr8:64624484-64624484;G/T missense_variant False CYP7B1@p.P167H 1 0.118644068 ENSG00000172817 chr8:64616041-64616041;G/T missense_variant False CYP8B1@p.R114C 1 0.08490566 ENSG00000180432 chr3:42875477-42875477;G/A missense_variant False CYRIA@p.A150G 1 0.210526316 ENSG00000197872 chr2:16561520-16561520;G/C missense_variant False CYRIA@p.E130Q 1 0.380952381 ENSG00000197872 chr2:16562052-16562052;C/G missense_variant False CYRIA@p.F189L 1 0.553191489 ENSG00000197872 chr2:16561224-16561224;G/T missense_variant False DAAM1@p.E763Q 1 0.258064516 ENSG00000100592 chr14:59352622-59352622;G/C missense_variant False DAAM1@p.E971Q 1 0.172413793 ENSG00000100592 chr14:59367483-59367483;G/C missense_variant False DAP@p.E46Q 1 0.103896104 ENSG00000112977 chr5:10748191-10748191;C/G missense_variant False DAG1@p.E856K 1 0.201923077 ENSG00000173402 chr3:49533077-49533077;G/A missense_variant False DAGLB@p.A287V 1 0.540540541 ENSG00000164535 chr7:6430549-6430549;G/A missense_variant False DAGLA@p.R795H 1 0.19760479 ENSG00000134780 chr11:61743744-61743744;G/A missense_variant False DAGLA@p.Q95P 1 0.328571429 ENSG00000134780 chr11:61720867-61720867;A/C missense_variant False DAGLA@p.E664K 1 0.197530864 ENSG00000134780 chr11:61741168-61741168;G/A missense_variant False DAGLA@p.D844N 1 0.367892977 ENSG00000134780 chr11:61743890-61743890;G/A missense_variant False DAG1@p.W260R 1 0.104477612 ENSG00000173402 chr3:49531289-49531289;T/C missense_variant False DAG1@p.E838D 1 0.218390805 ENSG00000173402 chr3:49533025-49533025;G/C missense_variant False DACT1@p.E426K 1 0.433333333 ENSG00000165617 chr14:58645899-58645899;G/A missense_variant False DAG1@p.E219K 1 0.315789474 ENSG00000173402 chr3:49531166-49531166;G/A missense_variant False DACT3@p.F560L 1 0.488372093 ENSG00000197380 chr19:46648692-46648692;G/C missense_variant False DACT1@p.V578I 1 0.25 ENSG00000165617 chr14:58646355-58646355;G/A missense_variant False DACT1@p.S445F 1 0.191489362 ENSG00000165617 chr14:58645957-58645957;C/T missense_variant False DACT1@p.S176C 1 0.583333333 ENSG00000165617 chr14:58641640-58641640;C/G missense_variant False DACT1@p.P520A 1 0.11827957 ENSG00000165617 chr14:58646181-58646181;C/G missense_variant False DAGLB@p.D156Gfs*17 1 0.323232323 ENSG00000164535 chr7:6434966-6434973;AAGAGGGT/- frameshift_variant False DAGLB@p.G538A 1 0.38317757 ENSG00000164535 chr7:6410337-6410337;C/G missense_variant False DAGLB@p.Q552H 1 0.391304348 ENSG00000164535 chr7:6410294-6410294;C/A missense_variant False DAGLB@p.R312S 1 0.288732394 ENSG00000164535 chr7:6426108-6426108;T/G missense_variant False DAGLB@p.R44T 1 0.15 ENSG00000164535 chr7:6446069-6446069;C/G missense_variant False DAGLB@p.S95C 1 0.54368932 ENSG00000164535 chr7:6436497-6436497;G/C missense_variant False DALRD3@p.D165N 1 0.214285714 ENSG00000178149 chr3:49017838-49017838;C/T missense_variant False DALRD3@p.D243N 1 0.378378378 ENSG00000178149 chr3:49017505-49017505;C/T missense_variant False DALRD3@p.E253K 1 0.159090909 ENSG00000178149 chr3:49017475-49017475;C/T missense_variant False DALRD3@p.P457A 1 0.4 ENSG00000178149 chr3:49016047-49016047;G/C missense_variant False DAND5@p.P24H 1 0.122807018 ENSG00000179284 chr19:12969731-12969731;C/A missense_variant False DAOA@p.Q74H 1 0.127659574 ENSG00000182346 chr13:105472626-105472626;G/C missense_variant False DAP3@p.L125V 1 0.172222222 ENSG00000132676 chr1:155725484-155725484;C/G missense_variant False DAP3@p.P120A 1 0.134529148 ENSG00000132676 chr1:155725469-155725469;C/G missense_variant False DAP3@p.R213Kfs*17 1 0.131147541 ENSG00000132676 chr1:155729073-155729076;AGAG/- frameshift_variant False DAP3@p.R276I 1 0.144230769 ENSG00000132676 chr1:155729350-155729350;G/T missense_variant False DAP3@p.V226I 1 0.063583815 ENSG00000132676 chr1:155729114-155729114;G/A missense_variant False DACT1@p.E499D 1 0.132075472 ENSG00000165617 chr14:58646120-58646120;G/T missense_variant False DACT1@p.A707T 1 0.086956522 ENSG00000165617 chr14:58646742-58646742;G/A missense_variant False DAAM1@p.G1043V 1 0.6 ENSG00000100592 chr14:59368750-59368750;G/T missense_variant False DAAM2@p.R990C 1 0.323076923 ENSG00000146122 chr6:39901458-39901458;C/T missense_variant False DAB1@p.Q452H 1 0.166666667 ENSG00000173406 chr1:57015070-57015070;C/A missense_variant False DAB1@p.G415S 1 0.166666667 ENSG00000173406 chr1:57015183-57015183;C/T missense_variant False DAB1@p.E204Q 1 0.06097561 ENSG00000173406 chr1:57069413-57069413;C/G missense_variant False DAB1@p.D494Y 1 0.139534884 ENSG00000173406 chr1:57014946-57014946;C/A missense_variant False DAB1@p.C471S 1 0.132352941 ENSG00000173406 chr1:57015014-57015014;C/G missense_variant False DAAM2@p.S202T 1 0.373831776 ENSG00000146122 chr6:39867686-39867686;G/C missense_variant False DAAM2@p.L866V 1 0.30075188 ENSG00000146122 chr6:39897260-39897260;C/G missense_variant False DACH1@p.Q708K 1 0.402298851 ENSG00000276644 chr13:71475754-71475754;G/T missense_variant False DAAM2@p.E67K 1 0.25 ENSG00000146122 chr6:39860958-39860958;G/A missense_variant False DAAM2@p.E58K 1 0.36 ENSG00000146122 chr6:39860931-39860931;G/A missense_variant False DAAM2@p.E131A 1 0.285714286 ENSG00000146122 chr6:39865038-39865038;A/C missense_variant False DAAM2@p.E1060K 1 0.26 ENSG00000146122 chr6:39902008-39902008;G/A missense_variant False DAAM1@p.Q420R 1 0.9 ENSG00000100592 chr14:59326594-59326594;A/G missense_variant False DAAM1@p.K781N 1 0.181818182 ENSG00000100592 chr14:59353921-59353921;G/C missense_variant False DAB2@p.D130H 1 0.215909091 ENSG00000153071 chr5:39390518-39390518;C/G missense_variant False DAB2@p.E277Q 1 0.422222222 ENSG00000153071 chr5:39383130-39383130;C/G missense_variant False DAB2@p.I57V 1 0.376623377 ENSG00000153071 chr5:39393316-39393316;T/C missense_variant False DAB2@p.S313C 1 0.112903226 ENSG00000153071 chr5:39383021-39383021;G/C missense_variant False DAB2@p.S614C 1 0.141304348 ENSG00000153071 chr5:39376946-39376946;G/C missense_variant False DAB2@p.S745L 1 0.559006211 ENSG00000153071 chr5:39376010-39376010;G/A missense_variant False DAB2IP@p.E154Q 1 0.226415094 ENSG00000136848 chr9:121757110-121757110;G/C missense_variant False DAB2IP@p.E258K 1 0.564705882 ENSG00000136848 chr9:121760041-121760041;G/A missense_variant False DAB2IP@p.G323C 1 0.5 ENSG00000136848 chr9:121760236-121760236;G/T missense_variant False DAB2IP@p.R199Q 1 0.5 ENSG00000136848 chr9:121758977-121758977;G/A missense_variant False DAB2IP@p.R844C 1 0.565217391 ENSG00000136848 chr9:121773058-121773058;C/T missense_variant False DAB2IP@p.S377C 1 0.264150943 ENSG00000136848 chr9:121760399-121760399;C/G missense_variant False DACH1@p.A495V 1 0.473684211 ENSG00000276644 chr13:71559927-71559927;G/A missense_variant False DACH1@p.D634H 1 0.119266055 ENSG00000276644 chr13:71479295-71479295;C/G missense_variant False DACH1@p.K689N 1 0.105263158 ENSG00000276644 chr13:71475809-71475809;C/G missense_variant False DACH1@p.M342I 1 0.095022624 ENSG00000276644 chr13:71630656-71630656;C/T missense_variant False DACH1@p.N458I 1 0.127272727 ENSG00000276644 chr13:71572922-71572922;T/A missense_variant False CBX7@p.E197K 1 0.266666667 ENSG00000100307 chr22:39134410-39134410;C/T missense_variant False CBX6@p.T371S 1 0.511627907 ENSG00000183741 chr22:38866336-38866336;G/C missense_variant False CBX6@p.G68R 1 0.372093023 ENSG00000183741 chr22:38871524-38871524;C/G missense_variant False AMER1@p.E381K 1 0.157894737 ENSG00000184675 chrX:64192146-64192146;C/T missense_variant True AMER1@p.V293I 1 0.296296296 ENSG00000184675 chrX:64192410-64192410;C/T missense_variant True AMER1@p.Q457H 1 0.576923077 ENSG00000184675 chrX:64191916-64191916;C/G missense_variant True AMER1@p.P970L 1 0.363636364 ENSG00000184675 chrX:64190378-64190378;G/A missense_variant True AMER1@p.P754S 1 0.225806452 ENSG00000184675 chrX:64191027-64191027;G/A missense_variant True AMER1@p.L980F 1 0.375 ENSG00000184675 chrX:64190347-64190347;C/A missense_variant True AMER1@p.E386K 1 0.133333333 ENSG00000184675 chrX:64192131-64192131;C/T missense_variant True AMER1@p.E288K 1 0.167701863 ENSG00000184675 chrX:64192425-64192425;C/T missense_variant True AMER2@p.E391Q 1 0.164285714 ENSG00000165566 chr13:25170449-25170449;C/G missense_variant False AMER1@p.E198Q 1 0.320754717 ENSG00000184675 chrX:64192695-64192695;C/G missense_variant True AMER1@p.E198K 1 0.202247191 ENSG00000184675 chrX:64192695-64192695;C/T missense_variant True AMELX@p.I112T 1 0.633928571 ENSG00000125363 chrX:11298738-11298738;T/C missense_variant False AMDHD2@p.L318P 1 0.051020408 ENSG00000162066 chr16:2528542-2528542;T/C missense_variant False AMDHD2@p.E42D 1 0.203703704 ENSG00000162066 chr16:2520811-2520811;G/C missense_variant False AMDHD2@p.D269H 1 0.409090909 ENSG00000162066 chr16:2528323-2528323;G/C missense_variant False AMER2@p.E390K 1 0.233333333 ENSG00000165566 chr13:25170452-25170452;C/T missense_variant False AMER2@p.E430Q 1 0.27027027 ENSG00000165566 chr13:25170332-25170332;C/G missense_variant False AMTN@p.G12E 1 0.482758621 ENSG00000187689 chr4:70518812-70518812;G/A missense_variant False AMER3@p.G181W 1 0.14084507 ENSG00000178171 chr2:130762613-130762613;G/T missense_variant False AMER3@p.R308K 1 0.139534884 ENSG00000178171 chr2:130762995-130762995;G/A missense_variant False AMER3@p.Q566E 1 0.446808511 ENSG00000178171 chr2:130763768-130763768;C/G missense_variant False AMER3@p.L667V 1 0.307692308 ENSG00000178171 chr2:130764071-130764071;C/G missense_variant False AMER3@p.K149N 1 0.151515152 ENSG00000178171 chr2:130762519-130762519;G/C missense_variant False AMER3@p.G394E 1 0.205882353 ENSG00000178171 chr2:130763253-130763253;G/A missense_variant False AMER3@p.G286S 1 0.25 ENSG00000178171 chr2:130762928-130762928;G/A missense_variant False AMER3@p.D336H 1 0.365384615 ENSG00000178171 chr2:130763078-130763078;G/C missense_variant False AMER2@p.E515G 1 0.112903226 ENSG00000165566 chr13:25170076-25170076;T/C missense_variant False AMER3@p.D256N 1 0.532374101 ENSG00000178171 chr2:130762838-130762838;G/A missense_variant False AMER3@p.A800V 1 0.526315789 ENSG00000178171 chr2:130764471-130764471;C/T missense_variant False AMER3@p.A579D 1 0.214285714 ENSG00000178171 chr2:130763808-130763808;C/A missense_variant False AMER2@p.R192W 1 0.268292683 ENSG00000165566 chr13:25171046-25171046;G/A missense_variant False AMER2@p.P256Q 1 0.333333333 ENSG00000165566 chr13:25170853-25170853;G/T missense_variant False AMER2@p.I498M 1 0.111111111 ENSG00000165566 chr13:25170126-25170126;G/C missense_variant False AMDHD1@p.I368V 1 0.478873239 ENSG00000139344 chr12:95966417-95966417;A/G missense_variant False AMDHD1@p.E286K 1 0.153846154 ENSG00000139344 chr12:95962397-95962397;G/A missense_variant False AMBRA1@p.S898F 1 0.181818182 ENSG00000110497 chr11:46434977-46434977;G/A missense_variant False ALX1@p.S238L 1 0.197080292 ENSG00000180318 chr12:85301207-85301207;C/T missense_variant False ALYREF@p.A134D 1 0.097826087 ENSG00000183684 chr17:81889319-81889319;G/T missense_variant False ALX4@p.R126Q 1 0.25 ENSG00000052850 chr11:44309686-44309686;C/T missense_variant False ALX4@p.E298Q 1 0.285714286 ENSG00000052850 chr11:44267508-44267508;C/G missense_variant False ALX1@p.T287I 1 0.226190476 ENSG00000180318 chr12:85301354-85301354;C/T missense_variant False ALX1@p.T237N 1 0.452380952 ENSG00000180318 chr12:85301204-85301204;C/A missense_variant False ALX1@p.S238P 1 0.054878049 ENSG00000180318 chr12:85301206-85301206;T/C missense_variant False ALX1@p.L65F 1 0.625 ENSG00000180318 chr12:85280456-85280456;G/C missense_variant False AMBRA1@p.S760C 1 0.256637168 ENSG00000110497 chr11:46508251-46508251;G/C missense_variant False ALX1@p.E60Q 1 0.37254902 ENSG00000180318 chr12:85280439-85280439;G/C missense_variant False ALS2CL@p.E666K 1 0.225806452 ENSG00000178038 chr3:46676674-46676674;C/T missense_variant False ALS2CL@p.E648Q 1 0.104166667 ENSG00000178038 chr3:46676728-46676728;C/G missense_variant False ALS2@p.T1219I 1 0.118421053 ENSG00000003393 chr2:201723089-201723089;G/A missense_variant False ALS2@p.S1554L 1 0.173913043 ENSG00000003393 chr2:201705166-201705166;G/A missense_variant False ALS2@p.L48F 1 0.311111111 ENSG00000003393 chr2:201767262-201767262;G/A missense_variant False ALYREF@p.A166T 1 0.5 ENSG00000183684 chr17:81889224-81889224;C/T missense_variant False ALYREF@p.D126H 1 0.147058824 ENSG00000183684 chr17:81890703-81890703;C/G missense_variant False ALYREF@p.D157H 1 0.213483146 ENSG00000183684 chr17:81889251-81889251;C/G missense_variant False ALYREF@p.G214A 1 0.347826087 ENSG00000183684 chr17:81888380-81888380;C/G missense_variant False ALYREF@p.G220A 1 0.242424242 ENSG00000183684 chr17:81888362-81888362;C/G missense_variant False ALYREF@p.R196Q 1 0.214285714 ENSG00000183684 chr17:81888535-81888535;C/T missense_variant False ALYREF@p.S241L 1 0.4375 ENSG00000183684 chr17:81888299-81888299;G/A missense_variant False AMACR@p.I6M 1 0.277777778 ENSG00000242110 chr5:34008002-34008002;G/C missense_variant False AMACR@p.R326S 1 0.192 ENSG00000242110 chr5:33989266-33989266;G/T missense_variant False AMACR@p.S7L 1 0.41509434 ENSG00000242110 chr5:34008000-34008000;G/A missense_variant False AMBN@p.A351T 1 0.211538462 ENSG00000178522 chr4:70606437-70606437;G/A missense_variant False AMBRA1@p.E642K 1 0.212121212 ENSG00000110497 chr11:46542093-46542093;C/T missense_variant False AMBRA1@p.E685Q 1 0.170731707 ENSG00000110497 chr11:46541964-46541964;C/G missense_variant False AMBRA1@p.G522V 1 0.344086022 ENSG00000110497 chr11:46542452-46542452;C/A missense_variant False AMBRA1@p.R1006W 1 0.140350877 ENSG00000110497 chr11:46418013-46418013;G/A missense_variant False AMBRA1@p.R631* 1 0.138461538 ENSG00000110497 chr11:46542118-46542127;CTCCAGCCTG/- frameshift_variant False AMBRA1@p.S70C 1 0.755555556 ENSG00000110497 chr11:46547282-46547282;G/C missense_variant False AMER3@p.R414Q 1 0.342857143 ENSG00000178171 chr2:130763313-130763313;G/A missense_variant False AMER3@p.S116R 1 0.105263158 ENSG00000178171 chr2:130762420-130762420;C/A missense_variant False AMER3@p.S120F 1 0.078947368 ENSG00000178171 chr2:130762431-130762431;C/T missense_variant False AMOTL2@p.Q571H 1 0.121212121 ENSG00000114019 chr3:134360276-134360276;C/G missense_variant False AMPD1@p.E164K 1 0.4 ENSG00000116748 chr1:114684355-114684355;C/T missense_variant False AMPD1@p.D75H 1 0.110344828 ENSG00000116748 chr1:114688652-114688652;C/G missense_variant False AMPD1@p.A206T 1 0.363636364 ENSG00000116748 chr1:114684229-114684229;C/T missense_variant False AMOTL2@p.R652T 1 0.307692308 ENSG00000114019 chr3:134359432-134359432;C/G missense_variant False AMOTL2@p.R330P 1 0.141666667 ENSG00000114019 chr3:134367549-134367549;C/G missense_variant False AMOTL2@p.R326K 1 0.448275862 ENSG00000114019 chr3:134367561-134367561;C/T missense_variant False AMOTL2@p.L760V 1 0.276595745 ENSG00000114019 chr3:134358543-134358543;G/C missense_variant False AMOT@p.R502Q 1 0.310502283 ENSG00000126016 chrX:112811281-112811281;C/T missense_variant False AMOTL2@p.K379Gfs*175 1 0.296482412 ENSG00000114019 chr3:134366295-134366334;GGTTGAAGTCTTGCAGCCTCCTCATTTCACTGTCCATCTT/- frameshift_variant False AMOTL2@p.E501K 1 0.392857143 ENSG00000114019 chr3:134361586-134361586;C/T missense_variant False AMOTL2@p.E456K 1 0.270833333 ENSG00000114019 chr3:134361721-134361721;C/T missense_variant False AMOTL1@p.M320I 1 0.301282051 ENSG00000166025 chr11:94800150-94800150;G/A missense_variant False AMOTL1@p.I82L 1 0.157894737 ENSG00000166025 chr11:94799434-94799434;A/C missense_variant False AMOTL1@p.F315L 1 0.126262626 ENSG00000166025 chr11:94800135-94800135;C/A missense_variant False AMPD1@p.E513Q 1 0.238938053 ENSG00000116748 chr1:114675954-114675954;C/G missense_variant False AMPD1@p.F273L 1 0.283018868 ENSG00000116748 chr1:114680306-114680306;G/T missense_variant False AMPD1@p.G509V 1 0.409090909 ENSG00000116748 chr1:114675965-114675965;C/A missense_variant False AMPD1@p.M676I 1 0.105882353 ENSG00000116748 chr1:114673954-114673954;C/T missense_variant False AMPD1@p.S392C 1 0.112195122 ENSG00000116748 chr1:114678349-114678349;G/C missense_variant False AMPD2@p.F570C 1 0.502702703 ENSG00000116337 chr1:109629337-109629337;T/G missense_variant False AMPD2@p.P179Q 1 0.42962963 ENSG00000116337 chr1:109626730-109626730;C/A missense_variant False AMPD2@p.P680A 1 0.047619048 ENSG00000116337 chr1:109630287-109630287;C/G missense_variant False AMPD2@p.Q112H 1 0.13559322 ENSG00000116337 chr1:109625775-109625775;G/C missense_variant False AMPD3@p.A603T 1 0.318681319 ENSG00000133805 chr11:10501555-10501555;G/A missense_variant False AMPD3@p.E448K 1 0.181818182 ENSG00000133805 chr11:10495645-10495645;G/A missense_variant False AMPD3@p.M80V 1 0.27486911 ENSG00000133805 chr11:10478542-10478542;A/G missense_variant False AMPD3@p.P2S 1 0.407894737 ENSG00000133805 chr11:10461523-10461523;C/T missense_variant False AMPD3@p.T316I 1 0.206422018 ENSG00000133805 chr11:10493356-10493356;C/T missense_variant False AMPH@p.E344K 1 0.492753623 ENSG00000078053 chr7:38436376-38436376;C/T missense_variant False AMPH@p.P431S 1 0.211111111 ENSG00000078053 chr7:38417932-38417932;G/A missense_variant False AMPH@p.S167F 1 0.526315789 ENSG00000078053 chr7:38476866-38476866;G/A missense_variant False AMOTL1@p.E494K 1 0.25 ENSG00000166025 chr11:94830116-94830116;G/A missense_variant False AMOT@p.L660V 1 0.266666667 ENSG00000126016 chrX:112790731-112790731;G/C missense_variant False AMER3@p.S312T 1 0.152173913 ENSG00000178171 chr2:130763007-130763007;G/C missense_variant False AMIGO2@p.C422R 1 0.242424242 ENSG00000139211 chr12:47077739-47077739;A/G missense_variant False AMIGO3@p.F26L 1 0.245283019 ENSG00000176020 chr3:49719388-49719388;G/T missense_variant False AMIGO3@p.E136K 1 0.18487395 ENSG00000176020 chr3:49719060-49719060;C/T missense_variant False AMIGO3@p.D334N 1 0.298245614 ENSG00000176020 chr3:49718466-49718466;C/T missense_variant False AMIGO2@p.V231A 1 0.178571429 ENSG00000139211 chr12:47078311-47078311;A/G missense_variant False AMIGO2@p.G13E 1 0.381818182 ENSG00000139211 chr12:47078965-47078965;C/T missense_variant False AMIGO2@p.E394Q 1 0.155844156 ENSG00000139211 chr12:47077823-47077823;C/G missense_variant False AMIGO1@p.I212M 1 0.662921348 ENSG00000181754 chr1:109508277-109508277;G/C missense_variant False AMOT@p.E731K 1 0.666666667 ENSG00000126016 chrX:112782589-112782589;C/T missense_variant False AMHR2@p.C551Y 1 0.230769231 ENSG00000135409 chr12:53431403-53431403;G/A missense_variant False AMH@p.E41K 1 0.285714286 ENSG00000104899 chr19:2249453-2249453;G/A missense_variant False AMFR@p.L365V 1 0.46969697 ENSG00000159461 chr16:56389368-56389368;G/C missense_variant False AMFR@p.L316V 1 0.32 ENSG00000159461 chr16:56403013-56403013;G/C missense_variant False AMFR@p.E401K 1 0.126865672 ENSG00000159461 chr16:56389260-56389260;C/T missense_variant False AMER3@p.S609C 1 0.325757576 ENSG00000178171 chr2:130763898-130763898;C/G missense_variant False AMIGO3@p.F373L 1 0.095238095 ENSG00000176020 chr3:49718349-49718349;A/G missense_variant False AMIGO3@p.I39M 1 0.113300493 ENSG00000176020 chr3:49719349-49719349;G/C missense_variant False AMIGO3@p.L140M 1 0.596153846 ENSG00000176020 chr3:49719048-49719048;G/T missense_variant False AMIGO3@p.L227F 1 0.080808081 ENSG00000176020 chr3:49718787-49718787;G/A missense_variant False AMIGO3@p.W234C 1 0.739130435 ENSG00000176020 chr3:49718764-49718764;C/A missense_variant False AMMECR1@p.G248A 1 0.382352941 ENSG00000101935 chrX:110202493-110202493;C/G missense_variant False AMMECR1@p.S218F 1 0.538461538 ENSG00000101935 chrX:110216564-110216564;G/A missense_variant False AMMECR1L@p.G72A 1 0.25 ENSG00000144233 chr2:127874020-127874020;C/G missense_variant False AMMECR1L@p.N307S 1 0.4 ENSG00000144233 chr2:127865107-127865107;T/C missense_variant False AMN1@p.E105Q 1 0.212121212 ENSG00000151743 chr12:31701866-31701866;C/G missense_variant False AMN1@p.R85T 1 0.318181818 ENSG00000151743 chr12:31701925-31701925;C/G missense_variant False AMN1@p.S121C 1 0.196969697 ENSG00000151743 chr12:31697912-31697912;G/C missense_variant False AMN@p.E133K 1 0.263157895 ENSG00000166126 chr14:102928859-102928859;G/A missense_variant False AMN@p.S107F 1 0.2 ENSG00000166126 chr14:102928782-102928782;C/T missense_variant False AMN@p.S111C 1 0.138888889 ENSG00000166126 chr14:102928794-102928794;C/G missense_variant False AMN@p.S67L 1 0.165413534 ENSG00000166126 chr14:102923972-102923972;C/T missense_variant False AMOT@p.A429T 1 0.408333333 ENSG00000126016 chrX:112815465-112815465;C/T missense_variant False ALS2@p.G477E 1 0.083333333 ENSG00000003393 chr2:201757443-201757443;C/T missense_variant False ALS2@p.D1377N 1 0.274509804 ENSG00000003393 chr2:201710032-201710032;C/T missense_variant False ALPP@p.S177L 1 0.340425532 ENSG00000163283 chr2:232379809-232379809;C/T missense_variant False ALMS1@p.E2367Q 1 0.357142857 ENSG00000116127 chr2:73453626-73453626;G/C missense_variant False ALMS1@p.G1979W 1 0.4125 ENSG00000116127 chr2:73452462-73452462;G/T missense_variant False ALMS1@p.F1438L 1 0.364864865 ENSG00000116127 chr2:73450841-73450841;C/G missense_variant False ALMS1@p.E3389K 1 0.321428571 ENSG00000116127 chr2:73557306-73557306;G/A missense_variant False ALMS1@p.E3172Q 1 0.276595745 ENSG00000116127 chr2:73491473-73491473;G/C missense_variant False ALMS1@p.E2756Q 1 0.165217391 ENSG00000116127 chr2:73490225-73490225;G/C missense_variant False ALMS1@p.E2738K 1 0.258992806 ENSG00000116127 chr2:73490171-73490171;G/A missense_variant False ALMS1@p.E1763Q 1 0.387596899 ENSG00000116127 chr2:73451814-73451814;G/C missense_variant False ALLC@p.A4V 1 0.444444444 ENSG00000151360 chr2:3671168-3671168;C/T missense_variant False ALMS1@p.D4083Y 1 0.08988764 ENSG00000116127 chr2:73602317-73602317;G/T missense_variant False ALMS1@p.D2418N 1 0.305785124 ENSG00000116127 chr2:73453779-73453779;G/A missense_variant False ALMS1@p.D2066H 1 0.666666667 ENSG00000116127 chr2:73452723-73452723;G/C missense_variant False ALMS1@p.A1505T 1 0.707482993 ENSG00000116127 chr2:73451040-73451040;G/A missense_variant False ALMS1@p.A1262V 1 0.091743119 ENSG00000116127 chr2:73450312-73450312;C/T missense_variant False ALLC@p.S384L 1 0.37037037 ENSG00000151360 chr2:3702538-3702538;C/T missense_variant False ALMS1@p.H2097Y 1 0.132075472 ENSG00000116127 chr2:73452816-73452816;C/T missense_variant False ALMS1@p.H3518Y 1 0.233333333 ENSG00000116127 chr2:73572429-73572429;C/T missense_variant False ALMS1@p.H879Y 1 0.358974359 ENSG00000116127 chr2:73449162-73449162;C/T missense_variant False ALMS1@p.I324N 1 0.160714286 ENSG00000116127 chr2:73424636-73424636;T/A missense_variant False ALMS1@p.K2868N 1 0.260869565 ENSG00000116127 chr2:73490563-73490563;G/C missense_variant False ALMS1@p.L1116V 1 0.257575758 ENSG00000116127 chr2:73449873-73449873;C/G missense_variant False ALMS1@p.L1689V 1 0.351955307 ENSG00000116127 chr2:73451592-73451592;C/G missense_variant False ALMS1@p.L1736V 1 0.395121951 ENSG00000116127 chr2:73451733-73451733;C/G missense_variant False ALMS1@p.L2764V 1 0.247524752 ENSG00000116127 chr2:73490249-73490249;C/G missense_variant False ALMS1@p.M2942I 1 0.404907975 ENSG00000116127 chr2:73490785-73490785;G/C missense_variant False ALMS1@p.M3560I 1 0.117647059 ENSG00000116127 chr2:73572557-73572557;G/T missense_variant False ALMS1@p.P3053S 1 0.075342466 ENSG00000116127 chr2:73491116-73491116;C/T missense_variant False ALMS1@p.Q236Kfs*14 1 0.326315789 ENSG00000116127 chr2:73422915-73422915;C/- frameshift_variant False ALMS1@p.Q2932H 1 0.461538462 ENSG00000116127 chr2:73490755-73490755;G/C missense_variant False ALMS1@p.Q2989E 1 0.271428571 ENSG00000116127 chr2:73490924-73490924;C/G missense_variant False ALMS1@p.Q735E 1 0.441314554 ENSG00000116127 chr2:73448730-73448730;C/G missense_variant False ALMS1@p.R2927Q 1 0.169811321 ENSG00000116127 chr2:73490739-73490739;G/A missense_variant False ALLC@p.R376Q 1 0.325 ENSG00000151360 chr2:3702514-3702514;G/A missense_variant False ALKBH8@p.R95K 1 0.384615385 ENSG00000137760 chr11:107556849-107556849;C/T missense_variant False ALMS1@p.S1815F 1 0.437209302 ENSG00000116127 chr2:73451971-73451971;C/T missense_variant False ALG6@p.K346E 1 0.094827586 ENSG00000088035 chr1:63419418-63419418;A/G missense_variant False ALK@p.E343K 1 0.298387097 ENSG00000171094 chr2:29532042-29532042;C/T missense_variant True ALK@p.E1407K 1 0.282352941 ENSG00000171094 chr2:29193868-29193868;C/T missense_variant True ALK@p.D885N 1 0.454545455 ENSG00000171094 chr2:29229046-29229046;C/T missense_variant True ALG9@p.E557Q 1 0.164948454 ENSG00000086848 chr11:111809686-111809686;C/G missense_variant False ALG8@p.H381L 1 0.476190476 ENSG00000159063 chr11:78106843-78106843;T/A missense_variant False ALG6@p.W246C 1 0.515337423 ENSG00000088035 chr1:63411983-63411983;G/C missense_variant False ALG5@p.E318Q 1 0.129032258 ENSG00000120697 chr13:36949965-36949965;C/G missense_variant False ALKBH8@p.Q131E 1 0.533333333 ENSG00000137760 chr11:107553955-107553955;G/C missense_variant False ALG5@p.A14V 1 0.529411765 ENSG00000120697 chr13:36999260-36999260;G/A missense_variant False ALG2@p.S11L 1 0.396226415 ENSG00000119523 chr9:99221863-99221863;G/A missense_variant False ALG2@p.E3K 1 0.333333333 ENSG00000119523 chr9:99221888-99221888;C/T missense_variant False ALG2@p.E214K 1 0.262135922 ENSG00000119523 chr9:99218545-99218545;C/T missense_variant False ALG2@p.D197H 1 0.108108108 ENSG00000119523 chr9:99218596-99218596;C/G missense_variant False ALG1L@p.S4L 1 0.21875 None chr3:125933664-125933664;G/A missense_variant False ALK@p.M1138K 1 0.166666667 ENSG00000171094 chr2:29222554-29222554;A/T missense_variant True ALK@p.P316R 1 0.235772358 ENSG00000171094 chr2:29694855-29694855;G/C missense_variant True ALK@p.P499T 1 0.509090909 ENSG00000171094 chr2:29320802-29320802;G/T missense_variant True ALK@p.R259C 1 0.169230769 ENSG00000171094 chr2:29717590-29717590;G/A missense_variant True ALK@p.R401Q 1 0.404761905 ENSG00000171094 chr2:29383812-29383812;C/T missense_variant True ALK@p.R65H 1 0.363636364 ENSG00000171094 chr2:29920466-29920466;C/T missense_variant True ALKBH1@p.A307E 1 0.333333333 ENSG00000100601 chr14:77674062-77674062;G/T missense_variant False ALKBH1@p.E17K 1 0.3125 ENSG00000100601 chr14:77707956-77707956;C/T missense_variant False ALKBH1@p.R24W 1 0.301724138 ENSG00000100601 chr14:77707935-77707935;G/A missense_variant False ALKBH3@p.N179S 1 0.285714286 ENSG00000166199 chr11:43901592-43901592;A/G missense_variant False ALKBH5@p.E115K 1 0.631578947 ENSG00000091542 chr17:18184586-18184586;G/A missense_variant False ALKBH5@p.E166K 1 0.921568627 ENSG00000091542 chr17:18184739-18184739;G/A missense_variant False ALKBH5@p.I280V 1 0.255813953 ENSG00000091542 chr17:18195022-18195022;A/G missense_variant False ALKBH5@p.K231E 1 0.430769231 ENSG00000091542 chr17:18184934-18184934;A/G missense_variant False ALKBH5@p.L353V 1 0.215189873 ENSG00000091542 chr17:18208268-18208268;C/G missense_variant False ALKBH6@p.R81L 1 0.166666667 ENSG00000239382 chr19:36010988-36010988;C/A missense_variant False ALKBH8@p.Q111R 1 0.203389831 ENSG00000137760 chr11:107556801-107556801;T/C missense_variant False ALMS1@p.S1456L 1 0.307228916 ENSG00000116127 chr2:73450894-73450894;C/T missense_variant False ALMS1@p.S1999L 1 0.266666667 ENSG00000116127 chr2:73452523-73452523;C/T missense_variant False ALPP@p.R319C 1 0.101449275 ENSG00000163283 chr2:232380712-232380712;C/T missense_variant False ALPK2@p.F733Y 1 0.305785124 ENSG00000198796 chr18:58537989-58537989;A/T missense_variant False ALPK2@p.S1291C 1 0.144736842 ENSG00000198796 chr18:58536315-58536315;G/C missense_variant False ALPK2@p.R386W 1 0.120689655 ENSG00000198796 chr18:58579620-58579620;G/A missense_variant False ALPK2@p.Q2140H 1 0.360655738 ENSG00000198796 chr18:58481916-58481916;C/A missense_variant False ALPK2@p.P115A 1 0.163793103 ENSG00000198796 chr18:58580433-58580433;G/C missense_variant False ALPK2@p.L640V 1 0.207317073 ENSG00000198796 chr18:58578858-58578858;G/C missense_variant False ALPK2@p.L356Ffs*6 1 0.232876712 ENSG00000198796 chr18:58579708-58579709;-/A frameshift_variant False ALPK2@p.E949Q 1 0.341463415 ENSG00000198796 chr18:58537342-58537342;C/G missense_variant False ALPK2@p.D1277H 1 0.284313725 ENSG00000198796 chr18:58536358-58536358;C/G missense_variant False ALPK2@p.E721K 1 0.25388601 ENSG00000198796 chr18:58538026-58538026;C/T missense_variant False ALPK2@p.E2163Q 1 0.177777778 ENSG00000198796 chr18:58481849-58481849;C/G missense_variant False ALPK2@p.E1709Q 1 0.48245614 ENSG00000198796 chr18:58535062-58535062;C/G missense_variant False ALPK2@p.E142K 1 0.170731707 ENSG00000198796 chr18:58580352-58580352;C/T missense_variant False ALPK2@p.E1301Q 1 0.333333333 ENSG00000198796 chr18:58536286-58536286;C/G missense_variant False ALPK2@p.E105K 1 0.076923077 ENSG00000198796 chr18:58580463-58580463;C/T missense_variant False ALPK2@p.S1698L 1 0.543478261 ENSG00000198796 chr18:58535094-58535094;G/A missense_variant False ALPK2@p.S16C 1 0.24137931 ENSG00000198796 chr18:58611751-58611751;G/C missense_variant False ALPK2@p.Y269S 1 0.405172414 ENSG00000198796 chr18:58579970-58579970;T/G missense_variant False ALPK3@p.E1457Q 1 0.155844156 ENSG00000136383 chr15:84862874-84862874;G/C missense_variant False ALPK3@p.E174K 1 0.431818182 ENSG00000136383 chr15:84839799-84839799;G/A missense_variant False ALPK3@p.E457A 1 0.12 ENSG00000136383 chr15:84840649-84840649;A/C missense_variant False ALPK3@p.E713K 1 0.326086957 ENSG00000136383 chr15:84856875-84856875;G/A missense_variant False ALPK3@p.E933K 1 0.365079365 ENSG00000136383 chr15:84857535-84857535;G/A missense_variant False ALPK3@p.G1178R 1 0.266666667 ENSG00000136383 chr15:84858270-84858270;G/A missense_variant False ALPK3@p.K649E 1 0.147058824 ENSG00000136383 chr15:84856683-84856683;A/G missense_variant False ALPK3@p.R306I 1 0.348484848 ENSG00000136383 chr15:84840196-84840196;G/T missense_variant False ALPK3@p.S1305L 1 0.133333333 ENSG00000136383 chr15:84859339-84859339;C/T missense_variant False ALPL@p.E146K 1 0.192771084 ENSG00000162551 chr1:21563248-21563248;G/A missense_variant False ALPL@p.T411A 1 0.28358209 ENSG00000162551 chr1:21576563-21576563;A/G missense_variant False ALPL@p.V459L 1 0.169811321 ENSG00000162551 chr1:21577448-21577448;G/T missense_variant False ALPP@p.A485G 1 0.277777778 ENSG00000163283 chr2:232381641-232381641;C/G missense_variant False ALPP@p.E150K 1 0.65 ENSG00000163283 chr2:232379651-232379651;G/A missense_variant False ALPK2@p.D1309N 1 0.362745098 ENSG00000198796 chr18:58536262-58536262;C/T missense_variant False ALPK2@p.A1551G 1 0.098591549 ENSG00000198796 chr18:58535535-58535535;G/C missense_variant False ALMS1@p.S2650Ifs*13 1 0.208333333 ENSG00000116127 chr2:73489906-73489940;AAGTCATTCCCCATTTCAGAACTTTATACCTGATG/- frameshift_variant False ALOX12@p.L459V 1 0.150442478 ENSG00000108839 chr17:7005984-7005984;C/G missense_variant False ALOX15@p.S587C 1 0.137931034 ENSG00000161905 chr17:4631938-4631938;G/C missense_variant False ALOX15@p.P653L 1 0.365079365 ENSG00000161905 chr17:4631631-4631631;G/A missense_variant False ALOX15@p.I470M 1 0.661290323 ENSG00000161905 chr17:4633154-4633154;G/C missense_variant False ALOX15@p.D308H 1 0.061728395 ENSG00000161905 chr17:4637144-4637144;C/G missense_variant False ALOX12B@p.T583K 1 0.349514563 ENSG00000179477 chr17:8073664-8073664;G/T missense_variant False ALOX12B@p.R170C 1 0.379518072 ENSG00000179477 chr17:8080903-8080903;G/A missense_variant False ALOX12@p.H360Y 1 0.138297872 ENSG00000108839 chr17:7001728-7001728;C/T missense_variant False ALPK1@p.R1009L 1 0.785714286 ENSG00000073331 chr4:112432573-112432573;G/T missense_variant False ALMS1@p.S861C 1 0.4 ENSG00000116127 chr2:73449109-73449109;C/G missense_variant False ALMS1@p.S791L 1 0.297979798 ENSG00000116127 chr2:73448899-73448899;C/T missense_variant False ALMS1@p.S765L 1 0.397297297 ENSG00000116127 chr2:73448821-73448821;C/T missense_variant False ALMS1@p.S3325L 1 0.14893617 ENSG00000116127 chr2:73550333-73550333;C/T missense_variant False ALMS1@p.S325L 1 0.119047619 ENSG00000116127 chr2:73424639-73424639;C/T missense_variant False ALMS1@p.S3092W 1 0.26744186 ENSG00000116127 chr2:73491234-73491234;C/G missense_variant False ALOX15B@p.E588Q 1 0.681818182 ENSG00000179593 chr17:8047826-8047826;G/C missense_variant False ALOX15B@p.F288L 1 0.431506849 ENSG00000179593 chr17:8045252-8045252;C/A missense_variant False ALOX5@p.F46L 1 0.285714286 ENSG00000012779 chr10:45374417-45374417;C/G missense_variant False ALOX5@p.I407V 1 0.373626374 ENSG00000012779 chr10:45441377-45441377;A/G missense_variant False ALOX5@p.L245Cfs*44 1 0.231958763 ENSG00000012779 chr10:45425031-45425032;-/G frameshift_variant False ALOXE3@p.E142Q 1 0.353535354 ENSG00000179148 chr17:8115617-8115617;C/G missense_variant False ALOXE3@p.G94S 1 0.952380952 ENSG00000179148 chr17:8116848-8116848;C/T missense_variant False ALOXE3@p.K170T 1 0.414937759 ENSG00000179148 chr17:8114983-8114983;T/G missense_variant False ALOXE3@p.R135W 1 0.591549296 ENSG00000179148 chr17:8115638-8115638;G/A missense_variant False ALOXE3@p.S710F 1 0.175824176 ENSG00000179148 chr17:8096634-8096634;G/A missense_variant False ALPI@p.E85Q 1 0.882352941 ENSG00000163295 chr2:232456648-232456648;G/C missense_variant False ALPI@p.Q34E 1 0.163934426 ENSG00000163295 chr2:232456381-232456381;C/G missense_variant False ALPK1@p.A1010S 1 0.767857143 ENSG00000073331 chr4:112432575-112432575;G/T missense_variant False ALPK1@p.C1225Y 1 0.105590062 ENSG00000073331 chr4:112441052-112441052;G/A missense_variant False ALPK1@p.E270K 1 0.205298013 ENSG00000073331 chr4:112429161-112429161;G/A missense_variant False ALPK1@p.E330Q 1 0.194444444 ENSG00000073331 chr4:112430535-112430535;G/C missense_variant False ALPK1@p.E438K 1 0.11627907 ENSG00000073331 chr4:112430859-112430859;G/A missense_variant False AMTN@p.D181N 1 0.16 ENSG00000187689 chr4:70531222-70531222;G/A missense_variant False AMTN@p.V184M 1 0.36 ENSG00000187689 chr4:70531231-70531231;G/A missense_variant False ALG1L@p.N121Y 1 0.136363636 None chr3:125929555-125929555;T/A missense_variant False ANK3@p.N3385D 1 0.161616162 ENSG00000151150 chr10:60070728-60070728;T/C missense_variant False ANK3@p.S2116F 1 0.388059701 ENSG00000151150 chr10:60074534-60074534;G/A missense_variant False ANK3@p.R927K 1 0.183673469 ENSG00000151150 chr10:60134332-60134332;C/T missense_variant False ANK3@p.R2596C 1 0.45 ENSG00000151150 chr10:60073095-60073095;G/A missense_variant False ANK3@p.Q95H 1 0.454545455 ENSG00000151150 chr10:60279080-60279080;C/G missense_variant False ANK3@p.Q3384H 1 0.254545455 ENSG00000151150 chr10:60070729-60070729;C/G missense_variant False ANK3@p.P3531L 1 0.222222222 ENSG00000151150 chr10:60070289-60070289;G/A missense_variant False ANK3@p.M4329I 1 0.253333333 ENSG00000151150 chr10:60055736-60055736;C/T missense_variant False ANK3@p.V2758I 1 0.360294118 ENSG00000151150 chr10:60072609-60072609;C/T missense_variant False ANK3@p.L159V 1 0.301075269 ENSG00000151150 chr10:60270169-60270169;G/C missense_variant False ANK3@p.K4057N 1 0.354651163 ENSG00000151150 chr10:60068710-60068710;C/G missense_variant False ANK3@p.K3928R 1 0.466292135 ENSG00000151150 chr10:60069098-60069098;T/C missense_variant False ANK3@p.G595R 1 0.181818182 ENSG00000151150 chr10:60196532-60196532;C/G missense_variant False ANK3@p.G555A 1 0.379310345 ENSG00000151150 chr10:60198365-60198365;C/G missense_variant False ANK3@p.E4006Q 1 0.221518987 ENSG00000151150 chr10:60068865-60068865;C/G missense_variant False ANK3@p.T3091Lfs*24 1 0.162162162 ENSG00000151150 chr10:60071610-60071610;T/- frameshift_variant False ANK3@p.V990Wfs*8 1 0.1 ENSG00000151150 chr10:60109035-60109035;C/- frameshift_variant False AMY1A@p.R318Q 1 0.205298013 ENSG00000237763 chr1:103660434-103660434;G/A missense_variant False ANKAR@p.R1357Q 1 0.214067278 ENSG00000151687 chr2:189746392-189746392;G/A missense_variant False ANKEF1@p.G387R 1 0.114942529 ENSG00000132623 chr20:10049728-10049728;G/A missense_variant False ANKEF1@p.D487H 1 0.423076923 ENSG00000132623 chr20:10050028-10050028;G/C missense_variant False ANKDD1A@p.S413F 1 0.277777778 ENSG00000166839 chr15:64947480-64947480;C/T missense_variant False ANKDD1A@p.S399F 1 0.153846154 ENSG00000166839 chr15:64947438-64947438;C/T missense_variant False ANKDD1A@p.R24H 1 0.117647059 ENSG00000166839 chr15:64915833-64915833;G/A missense_variant False ANKAR@p.S1224L 1 0.433962264 ENSG00000151687 chr2:189738653-189738653;C/T missense_variant False ANKAR@p.L870F 1 0.09375 ENSG00000151687 chr2:189720760-189720760;C/T missense_variant False ANKAR@p.A1048T 1 0.653061224 ENSG00000151687 chr2:189728770-189728770;G/A missense_variant False ANKAR@p.I214M 1 0.246376812 ENSG00000151687 chr2:189689567-189689567;C/G missense_variant False ANKAR@p.I1064V 1 0.380952381 ENSG00000151687 chr2:189728818-189728818;A/G missense_variant False ANKAR@p.E891K 1 0.223880597 ENSG00000151687 chr2:189727891-189727891;G/A missense_variant False ANKAR@p.E633K 1 0.393617021 ENSG00000151687 chr2:189705211-189705211;G/A missense_variant False ANKAR@p.E462K 1 0.528571429 ENSG00000151687 chr2:189695057-189695057;G/A missense_variant False ANKAR@p.D1220V 1 0.125 ENSG00000151687 chr2:189738641-189738641;A/T missense_variant False ANK3@p.E3676Q 1 0.227272727 ENSG00000151150 chr10:60069855-60069855;C/G missense_variant False ANK3@p.E3591K 1 0.363636364 ENSG00000151150 chr10:60070110-60070110;C/T missense_variant False ANK3@p.E3470Q 1 0.078947368 ENSG00000151150 chr10:60070473-60070473;C/G missense_variant False ANK2@p.R288Q 1 0.09375 ENSG00000145362 chr4:113242181-113242181;G/A missense_variant False ANK2@p.V437A 1 0.225609756 ENSG00000145362 chr4:113258335-113258335;T/C missense_variant False ANK2@p.S3390C 1 0.172932331 ENSG00000145362 chr4:113358787-113358787;C/G missense_variant False ANK2@p.S2741T 1 0.217948718 ENSG00000145362 chr4:113356839-113356839;T/A missense_variant False ANK2@p.S1872L 1 0.24 ENSG00000145362 chr4:113354233-113354233;C/T missense_variant False ANK2@p.R895Q 1 0.192307692 ENSG00000145362 chr4:113311390-113311390;G/A missense_variant False ANK2@p.R585C 1 0.242424242 ENSG00000145362 chr4:113277906-113277906;C/T missense_variant False ANK2@p.R2416Q 1 0.254545455 ENSG00000145362 chr4:113355865-113355865;G/A missense_variant False ANK3@p.E3359K 1 0.263157895 ENSG00000151150 chr10:60070806-60070806;C/T missense_variant False ANK2@p.R2028W 1 0.493150685 ENSG00000145362 chr4:113354700-113354700;C/T missense_variant False ANK2@p.R1193C 1 0.430232558 ENSG00000145362 chr4:113336043-113336043;C/T missense_variant False ANK2@p.Q2815R 1 0.471428571 ENSG00000145362 chr4:113357062-113357062;A/G missense_variant False ANK2@p.P2214T 1 0.392592593 ENSG00000145362 chr4:113355258-113355258;C/A missense_variant False ANK2@p.P1434T 1 0.444444444 ENSG00000145362 chr4:113345951-113345951;C/A missense_variant False ANK2@p.L747P 1 0.061728395 ENSG00000145362 chr4:113288449-113288449;T/C missense_variant False ANK2@p.Y420C 1 0.098837209 ENSG00000145362 chr4:113258120-113258120;A/G missense_variant False ANK2@p.Y915C 1 0.269230769 ENSG00000145362 chr4:113317757-113317757;A/G missense_variant False ANK3@p.A341T 1 0.127272727 ENSG00000151150 chr10:60208209-60208209;C/T missense_variant False ANK3@p.A479D 1 0.296875 ENSG00000151150 chr10:60200184-60200184;G/T missense_variant False ANK3@p.D3150H 1 0.276190476 ENSG00000151150 chr10:60071433-60071433;C/G missense_variant False ANK3@p.D4273Y 1 0.326797386 ENSG00000151150 chr10:60055906-60055906;C/A missense_variant False ANK3@p.D849N 1 0.288888889 ENSG00000151150 chr10:60166830-60166830;C/T missense_variant False ANK3@p.E1038K 1 0.551020408 ENSG00000151150 chr10:60108891-60108891;C/T missense_variant False ANK3@p.E1925Q 1 0.435897436 ENSG00000151150 chr10:60075108-60075108;C/G missense_variant False ANK3@p.E2014D 1 0.526785714 ENSG00000151150 chr10:60074839-60074839;C/G missense_variant False ANK3@p.E2355K 1 0.240875912 ENSG00000151150 chr10:60073818-60073818;C/T missense_variant False ANK3@p.E2452Q 1 0.148148148 ENSG00000151150 chr10:60073527-60073527;C/G missense_variant False ANK3@p.E2590K 1 0.254545455 ENSG00000151150 chr10:60073113-60073113;C/T missense_variant False ANK3@p.E2605V 1 0.413533835 ENSG00000151150 chr10:60073067-60073067;T/A missense_variant False ANK3@p.E2632Q 1 0.372340426 ENSG00000151150 chr10:60072987-60072987;C/G missense_variant False ANK3@p.E2645Q 1 0.492063492 ENSG00000151150 chr10:60072948-60072948;C/G missense_variant False ANK3@p.E3013Q 1 0.180952381 ENSG00000151150 chr10:60071844-60071844;C/G missense_variant False ANKEF1@p.H380Y 1 0.11023622 ENSG00000132623 chr20:10049707-10049707;C/T missense_variant False ANKEF1@p.N649Cfs*10 1 0.204819277 ENSG00000132623 chr20:10053185-10053188;TAAC/- frameshift_variant False ANKEF1@p.V197A 1 0.19266055 ENSG00000132623 chr20:10044437-10044437;T/C missense_variant False ANKIB1@p.D897H 1 0.1875 ENSG00000001629 chr7:92398368-92398368;G/C missense_variant False ANKIB1@p.G442V 1 0.274096386 ENSG00000001629 chr7:92352570-92352570;G/T missense_variant False ANKIB1@p.E802Q 1 0.935483871 ENSG00000001629 chr7:92397731-92397731;G/C missense_variant False ANKIB1@p.E681Q 1 0.222222222 ENSG00000001629 chr7:92390105-92390105;G/C missense_variant False ANKIB1@p.E647K 1 0.053763441 ENSG00000001629 chr7:92390003-92390003;G/A missense_variant False ANKIB1@p.E320K 1 0.328125 ENSG00000001629 chr7:92343194-92343194;G/A missense_variant False ANKIB1@p.D979H 1 0.186206897 ENSG00000001629 chr7:92398614-92398614;G/C missense_variant False ANKIB1@p.D1070H 1 0.909090909 ENSG00000001629 chr7:92398887-92398887;G/C missense_variant False ANKHD1-EIF4EBP3@p.R1144Q 1 0.151162791 ENSG00000254996 chr5:140506857-140506857;G/A missense_variant False ANKHD1-EIF4EBP3@p.S2595C 1 0.1875 ENSG00000254996 chr5:140549010-140549010;C/G missense_variant False ANKHD1-EIF4EBP3@p.S2482C 1 0.333333333 ENSG00000254996 chr5:140538959-140538959;C/G missense_variant False ANKHD1-EIF4EBP3@p.S2345C 1 0.206666667 ENSG00000254996 chr5:140537395-140537395;C/G missense_variant False ANKHD1-EIF4EBP3@p.S2181L 1 0.294117647 ENSG00000254996 chr5:140529488-140529488;C/T missense_variant False ANKHD1-EIF4EBP3@p.R2362Q 1 0.615384615 ENSG00000254996 chr5:140537446-140537446;G/A missense_variant False ANKHD1-EIF4EBP3@p.R1741T 1 0.24 ENSG00000254996 chr5:140528007-140528007;G/C missense_variant False ANKIB1@p.L916V 1 0.41025641 ENSG00000001629 chr7:92398425-92398425;T/G missense_variant False ANKIB1@p.R429T 1 0.233333333 ENSG00000001629 chr7:92352531-92352531;G/C missense_variant False ANKIB1@p.S33F 1 0.357142857 ENSG00000001629 chr7:92295076-92295076;C/T missense_variant False ANKK1@p.A542S 1 0.263157895 ENSG00000170209 chr11:113399593-113399593;G/T missense_variant False ANKLE1@p.E285Q 1 0.127118644 ENSG00000160117 chr19:17283455-17283455;G/C missense_variant False ANKLE1@p.G258W 1 0.13253012 ENSG00000160117 chr19:17283374-17283374;G/T missense_variant False ANKLE1@p.P292A 1 0.4 ENSG00000160117 chr19:17283476-17283476;C/G missense_variant False ANKLE1@p.S369F 1 0.050420168 ENSG00000160117 chr19:17283708-17283708;C/T missense_variant False ANKLE2@p.A192V 1 0.289855072 ENSG00000176915 chr12:132754740-132754740;G/A missense_variant False ANKLE2@p.D731N 1 0.122807018 ENSG00000176915 chr12:132729971-132729971;C/T missense_variant False ANKLE2@p.E643K 1 0.227848101 ENSG00000176915 chr12:132730235-132730235;C/T missense_variant False ANKLE2@p.R215S 1 0.098901099 ENSG00000176915 chr12:132750845-132750845;C/G missense_variant False ANKLE2@p.R536C 1 0.474576271 ENSG00000176915 chr12:132735500-132735500;G/A missense_variant False ANKLE2@p.R698T 1 0.274193548 ENSG00000176915 chr12:132730069-132730069;C/G missense_variant False ANKLE2@p.R766K 1 0.491803279 ENSG00000176915 chr12:132729865-132729865;C/T missense_variant False ANKLE2@p.S487F 1 0.4375 ENSG00000176915 chr12:132737026-132737026;G/A missense_variant False ANKLE2@p.T263A 1 0.537634409 ENSG00000176915 chr12:132750703-132750703;T/C missense_variant False ANKHD1-EIF4EBP3@p.R1367C 1 0.15625 ENSG00000254996 chr5:140510176-140510176;C/T missense_variant False ANKHD1-EIF4EBP3@p.Q2171E 1 0.204724409 ENSG00000254996 chr5:140529457-140529457;C/G missense_variant False ANKFN1@p.E233Q 1 0.187134503 ENSG00000153930 chr17:56372732-56372732;G/C missense_variant False ANKFY1@p.S335L 1 0.130434783 ENSG00000185722 chr17:4197472-4197472;G/A missense_variant False ANKH@p.F261S 1 0.748917749 ENSG00000154122 chr5:14749212-14749212;A/G missense_variant False ANKH@p.E365K 1 0.577777778 ENSG00000154122 chr5:14716754-14716754;C/T missense_variant False ANKFY1@p.V592Afs*25 1 0.212765957 ENSG00000185722 chr17:4183834-4183835;CA/- frameshift_variant False ANKFY1@p.V428M 1 0.40625 ENSG00000185722 chr17:4195068-4195068;C/T missense_variant False ANKFY1@p.S899L 1 0.368421053 ENSG00000185722 chr17:4177205-4177205;G/A missense_variant False ANKFY1@p.S635R 1 0.148648649 ENSG00000185722 chr17:4183445-4183445;G/C missense_variant False ANKFY1@p.L639Hfs*11 1 0.326666667 ENSG00000185722 chr17:4183436-4183437;-/GC frameshift_variant False ANKHD1-EIF4EBP3@p.P741A 1 0.105263158 ENSG00000254996 chr5:140487036-140487036;C/G missense_variant False ANKFY1@p.A456V 1 0.117647059 ENSG00000185722 chr17:4194983-4194983;G/A missense_variant False ANKFN1@p.S206I 1 0.204379562 ENSG00000153930 chr17:56372652-56372652;G/T missense_variant False ANKFN1@p.R260C 1 0.098484848 ENSG00000153930 chr17:56372813-56372813;C/T missense_variant False ANKFN1@p.R259K 1 0.422360248 ENSG00000153930 chr17:56372811-56372811;G/A missense_variant False ANKFN1@p.P162R 1 0.235294118 ENSG00000153930 chr17:56353921-56353921;C/G missense_variant False ANKFN1@p.E581K 1 0.28 ENSG00000153930 chr17:56466530-56466530;G/A missense_variant False ANKH@p.L279F 1 0.145454545 ENSG00000154122 chr5:14745948-14745948;C/G missense_variant False ANKH@p.R235T 1 0.081967213 ENSG00000154122 chr5:14749290-14749290;C/G missense_variant False ANKH@p.Y213C 1 0.243902439 ENSG00000154122 chr5:14751118-14751118;T/C missense_variant False ANKHD1-EIF4EBP3@p.D1278N 1 0.294117647 ENSG00000254996 chr5:140509703-140509703;G/A missense_variant False ANKHD1-EIF4EBP3@p.D1594Y 1 0.125 ENSG00000254996 chr5:140526283-140526283;G/T missense_variant False ANKHD1-EIF4EBP3@p.D2240N 1 0.397163121 ENSG00000254996 chr5:140529664-140529664;G/A missense_variant False ANKHD1-EIF4EBP3@p.E1434Q 1 0.381818182 ENSG00000254996 chr5:140513462-140513462;G/C missense_variant False ANKHD1-EIF4EBP3@p.E1688Q 1 0.323529412 ENSG00000254996 chr5:140527049-140527049;G/C missense_variant False ANKHD1-EIF4EBP3@p.E470K 1 0.325581395 ENSG00000254996 chr5:140458790-140458790;G/A missense_variant False ANKHD1-EIF4EBP3@p.H1853N 1 0.322033898 ENSG00000254996 chr5:140528503-140528503;C/A missense_variant False ANKHD1-EIF4EBP3@p.L1296S 1 0.509090909 ENSG00000254996 chr5:140509758-140509758;T/C missense_variant False ANKHD1-EIF4EBP3@p.L949F 1 0.419847328 ENSG00000254996 chr5:140497119-140497119;C/T missense_variant False ANKHD1-EIF4EBP3@p.M486I 1 0.113402062 ENSG00000254996 chr5:140458840-140458840;G/A missense_variant False ANKHD1-EIF4EBP3@p.N2500S 1 0.255319149 ENSG00000254996 chr5:140539013-140539013;A/G missense_variant False ANKHD1-EIF4EBP3@p.P1286L 1 0.487804878 ENSG00000254996 chr5:140509728-140509728;C/T missense_variant False ANKHD1-EIF4EBP3@p.P1503S 1 0.245098039 ENSG00000254996 chr5:140526010-140526010;C/T missense_variant False ANKHD1-EIF4EBP3@p.P698S 1 0.294117647 ENSG00000254996 chr5:140485682-140485682;C/T missense_variant False ANK2@p.L1669M 1 0.098360656 ENSG00000145362 chr4:113353623-113353623;C/A missense_variant False ANK2@p.K610T 1 0.146666667 ENSG00000145362 chr4:113278506-113278506;A/C missense_variant False ANK2@p.K1786E 1 0.378676471 ENSG00000145362 chr4:113353974-113353974;A/G missense_variant False ANAPC2@p.E280K 1 0.8125 ENSG00000176248 chr9:137186259-137186259;C/T missense_variant False ANAPC4@p.E237Q 1 0.253012048 ENSG00000053900 chr4:25392341-25392341;G/C missense_variant False ANAPC4@p.E186Q 1 0.271186441 ENSG00000053900 chr4:25390176-25390176;G/C missense_variant False ANAPC2@p.S738C 1 0.375 ENSG00000176248 chr9:137175280-137175280;G/C missense_variant False ANAPC2@p.R653H 1 0.3 ENSG00000176248 chr9:137175770-137175770;C/T missense_variant False ANAPC2@p.Q628H 1 0.113636364 ENSG00000176248 chr9:137180187-137180187;C/G missense_variant False ANAPC2@p.E465Q 1 0.5625 ENSG00000176248 chr9:137181756-137181756;C/G missense_variant False ANAPC2@p.E254K 1 0.6 ENSG00000176248 chr9:137186337-137186337;C/T missense_variant False ANAPC1@p.Q846P 1 0.333333333 ENSG00000153107 chr2:111831374-111831374;T/G missense_variant False ANAPC2@p.E130K 1 0.652173913 ENSG00000176248 chr9:137187833-137187833;C/T missense_variant False ANAPC1@p.T1264Qfs*14 1 0.162790698 ENSG00000153107 chr2:111808990-111808990;C/- frameshift_variant False ANAPC1@p.S736L 1 0.184782609 ENSG00000153107 chr2:111834781-111834781;G/A missense_variant False ANAPC1@p.S341L 1 0.142857143 ENSG00000153107 chr2:111863705-111863705;G/A missense_variant False ANAPC1@p.S156I 1 0.448275862 ENSG00000153107 chr2:111873369-111873369;C/A missense_variant False ANAPC1@p.S1530L 1 0.204545455 ENSG00000153107 chr2:111792485-111792485;G/A missense_variant False ANAPC4@p.H114R 1 0.265822785 ENSG00000053900 chr4:25383366-25383366;A/G missense_variant False ANAPC4@p.M717Efs*28 1 0.1484375 ENSG00000053900 chr4:25417688-25417689;TA/- frameshift_variant False ANAPC4@p.Q282H 1 0.101449275 ENSG00000053900 chr4:25393861-25393861;G/C missense_variant False ANAPC4@p.R633T 1 0.243902439 ENSG00000053900 chr4:25415537-25415537;G/C missense_variant False ANAPC5@p.H526Y 1 0.36 ENSG00000089053 chr12:121319758-121319758;G/A missense_variant False ANAPC5@p.L300F 1 0.104895105 ENSG00000089053 chr12:121335583-121335583;C/G missense_variant False ANAPC5@p.L720F 1 0.4 ENSG00000089053 chr12:121308590-121308590;G/A missense_variant False ANAPC5@p.M520I 1 0.113207547 ENSG00000089053 chr12:121319774-121319774;C/G missense_variant False ANAPC5@p.P498L 1 0.137614679 ENSG00000089053 chr12:121320407-121320407;G/A missense_variant False ANAPC5@p.S355F 1 0.105882353 ENSG00000089053 chr12:121330641-121330641;G/A missense_variant False ANAPC5@p.S53N 1 0.578947368 ENSG00000089053 chr12:121352183-121352183;C/T missense_variant False ANAPC7@p.D85H 1 0.303030303 ENSG00000196510 chr12:110396403-110396403;C/G missense_variant False ANAPC7@p.E218Q 1 0.416666667 ENSG00000196510 chr12:110387863-110387863;C/G missense_variant False ANAPC7@p.E576G 1 0.058823529 ENSG00000196510 chr12:110374217-110374217;T/C missense_variant False ANAPC7@p.I162M 1 0.244186047 ENSG00000196510 chr12:110395125-110395125;G/C missense_variant False ANAPC7@p.L207V 1 0.116883117 ENSG00000196510 chr12:110388515-110388515;G/C missense_variant False ANAPC7@p.M299T 1 0.671755725 ENSG00000196510 chr12:110386350-110386350;A/G missense_variant False ANAPC1@p.R527W 1 0.326530612 ENSG00000153107 chr2:111850847-111850847;G/A missense_variant False ANAPC1@p.M934I 1 0.275 ENSG00000153107 chr2:111824976-111824976;C/T missense_variant False ANGEL1@p.R118W 1 0.095238095 ENSG00000013523 chr14:76809356-76809356;G/A missense_variant False AMY2B@p.D426N 1 0.394736842 ENSG00000240038 chr1:103577775-103577775;G/A missense_variant False AMZ1@p.P396L 1 0.555555556 ENSG00000174945 chr7:2712568-2712568;C/T missense_variant False AMZ1@p.H305N 1 0.345454545 ENSG00000174945 chr7:2709781-2709781;C/A missense_variant False AMZ1@p.E75K 1 0.306818182 ENSG00000174945 chr7:2700674-2700674;G/A missense_variant False AMY2B@p.E164D 1 0.442260442 ENSG00000240038 chr1:103573239-103573239;G/T missense_variant False AMY2B@p.D92N 1 0.326530612 ENSG00000240038 chr1:103572215-103572215;G/A missense_variant False AMY2B@p.D471H 1 0.11965812 ENSG00000240038 chr1:103579375-103579375;G/C missense_variant False AMY2B@p.D305E 1 0.342105263 ENSG00000240038 chr1:103575259-103575259;C/A missense_variant False ANAPC1@p.L271V 1 0.188888889 ENSG00000153107 chr2:111864826-111864826;G/C missense_variant False AMY2A@p.S27Y 1 0.115606936 ENSG00000243480 chr1:103617520-103617520;C/A missense_variant False AMY2A@p.P59S 1 0.166666667 ENSG00000243480 chr1:103617960-103617960;C/T missense_variant False AMY2A@p.I202S 1 0.408219178 ENSG00000243480 chr1:103619645-103619645;T/G missense_variant False AMY2A@p.G253D 1 0.201219512 ENSG00000243480 chr1:103620564-103620564;G/A missense_variant False AMY2A@p.F412V 1 0.136752137 ENSG00000243480 chr1:103624109-103624109;T/G missense_variant False AMY1A@p.W331C 1 0.188470067 ENSG00000237763 chr1:103660474-103660474;G/T missense_variant False AMZ1@p.R93G 1 0.333333333 ENSG00000174945 chr7:2700728-2700728;C/G missense_variant False AMZ2@p.D208N 1 0.264705882 ENSG00000196704 chr17:68254439-68254439;G/A missense_variant False AMZ2@p.D321N 1 0.112903226 ENSG00000196704 chr17:68256847-68256847;G/A missense_variant False AMZ2@p.D69N 1 0.12849162 ENSG00000196704 chr17:68250392-68250392;G/A missense_variant False AMZ2@p.E27Q 1 0.202898551 ENSG00000196704 chr17:68250266-68250266;G/C missense_variant False AMZ2@p.F119L 1 0.117647059 ENSG00000196704 chr17:68250867-68250867;C/G missense_variant False AMZ2@p.R283W 1 0.133333333 ENSG00000196704 chr17:68255796-68255796;C/T missense_variant False AMZ2@p.Y120H 1 0.28125 ENSG00000196704 chr17:68250868-68250868;T/C missense_variant False ANAPC15@p.M92I 1 0.373626374 ENSG00000110200 chr11:72110130-72110130;C/T missense_variant False ANAPC16@p.A77G 1 0.196078431 ENSG00000166295 chr10:72233013-72233013;C/G missense_variant False ANAPC1@p.D1059V 1 0.117647059 ENSG00000153107 chr2:111821269-111821269;T/A missense_variant False ANAPC1@p.D568G 1 0.447368421 ENSG00000153107 chr2:111847813-111847813;T/C missense_variant False ANAPC1@p.E146Q 1 0.090909091 ENSG00000153107 chr2:111873400-111873400;C/G missense_variant False ANAPC1@p.G1547S 1 0.235294118 ENSG00000153107 chr2:111792435-111792435;C/T missense_variant False ANAPC1@p.K798T 1 0.45 ENSG00000153107 chr2:111833303-111833303;T/G missense_variant False ANAPC1@p.L1657F 1 0.205882353 ENSG00000153107 chr2:111784349-111784349;G/A missense_variant False ANAPC1@p.L1662I 1 0.126760563 ENSG00000153107 chr2:111784334-111784334;G/T missense_variant False ANGEL1@p.L636F 1 0.090909091 ENSG00000013523 chr14:76789335-76789335;G/A missense_variant False ANGEL1@p.T26I 1 0.488888889 ENSG00000013523 chr14:76809631-76809631;G/A missense_variant False ANK2@p.H3599D 1 0.454545455 ENSG00000145362 chr4:113363376-113363376;C/G missense_variant False ANK1@p.R1148Q 1 0.208333333 ENSG00000029534 chr8:41693987-41693987;C/T missense_variant False ANK2@p.D1115H 1 0.131868132 ENSG00000145362 chr4:113333172-113333172;G/C missense_variant False ANK2@p.A2837P 1 0.312056738 ENSG00000145362 chr4:113357127-113357127;G/C missense_variant False ANK1@p.S925T 1 0.369565217 ENSG00000029534 chr8:41696550-41696550;A/T missense_variant False ANK1@p.S899L 1 0.178571429 ENSG00000029534 chr8:41696715-41696715;G/A missense_variant False ANK1@p.S22L 1 0.175126904 ENSG00000029534 chr8:41758100-41758100;G/A missense_variant False ANK1@p.S1411L 1 0.495867769 ENSG00000029534 chr8:41688182-41688182;G/A missense_variant False ANK1@p.R1021S 1 0.134328358 ENSG00000029534 chr8:41695229-41695229;C/A missense_variant False ANK1@p.D838N 1 0.396313364 ENSG00000029534 chr8:41699498-41699498;C/T missense_variant False ANK1@p.Q1772K 1 0.571428571 ENSG00000029534 chr8:41668347-41668347;G/T missense_variant False ANK1@p.L1228V 1 0.061764706 ENSG00000029534 chr8:41692824-41692824;G/C missense_variant False ANK1@p.I825M 1 0.230366492 ENSG00000029534 chr8:41699535-41699535;G/C missense_variant False ANK1@p.I480V 1 0.197530864 ENSG00000029534 chr8:41715816-41715816;T/C missense_variant False ANK1@p.G923D 1 0.147058824 ENSG00000029534 chr8:41696555-41696555;C/T missense_variant False ANK1@p.E1764K 1 0.591549296 ENSG00000029534 chr8:41668371-41668371;C/T missense_variant False ANK2@p.D2799N 1 0.340425532 ENSG00000145362 chr4:113357013-113357013;G/A missense_variant False ANK2@p.D2838H 1 0.109375 ENSG00000145362 chr4:113357130-113357130;G/C missense_variant False ANK2@p.E1022K 1 0.693548387 ENSG00000145362 chr4:113330409-113330409;G/A missense_variant False ANK2@p.E1553K 1 0.296296296 ENSG00000145362 chr4:113353275-113353275;G/A missense_variant False ANK2@p.E1602Q 1 0.826666667 ENSG00000145362 chr4:113353422-113353422;G/C missense_variant False ANK2@p.E1676K 1 0.461538462 ENSG00000145362 chr4:113353644-113353644;G/A missense_variant False ANK2@p.E184Q 1 0.197674419 ENSG00000145362 chr4:113237053-113237053;G/C missense_variant False ANK2@p.E1876K 1 0.242424242 ENSG00000145362 chr4:113354244-113354244;G/A missense_variant False ANK2@p.E2255Q 1 0.306122449 ENSG00000145362 chr4:113355381-113355381;G/C missense_variant False ANK2@p.E3149Q 1 0.527777778 ENSG00000145362 chr4:113358063-113358063;G/C missense_variant False ANK2@p.E3668Q 1 0.261538462 ENSG00000145362 chr4:113365152-113365152;G/C missense_variant False ANK2@p.E540D 1 0.23364486 ENSG00000145362 chr4:113274586-113274586;G/C missense_variant False ANK2@p.E941Q 1 0.205882353 ENSG00000145362 chr4:113318541-113318541;G/C missense_variant False ANK2@p.F2937L 1 0.456521739 ENSG00000145362 chr4:113357429-113357429;C/A missense_variant False ANK2@p.G299R 1 0.2 ENSG00000145362 chr4:113249767-113249767;G/A missense_variant False ANK2@p.H1045Y 1 0.056737589 ENSG00000145362 chr4:113331979-113331979;C/T missense_variant False ANK2@p.H216R 1 0.288793103 ENSG00000145362 chr4:113237150-113237150;A/G missense_variant False ANK1@p.E157K 1 0.6 ENSG00000029534 chr8:41725904-41725904;C/T missense_variant False ANK1@p.D470N 1 0.095238095 ENSG00000029534 chr8:41715846-41715846;C/T missense_variant False ANGEL2@p.D142H 1 0.153846154 ENSG00000174606 chr1:213008428-213008428;C/G missense_variant False ANGPT4@p.E199Q 1 0.333333333 ENSG00000101280 chr20:885318-885318;C/G missense_variant False ANGPTL2@p.E389Q 1 0.029411765 ENSG00000136859 chr9:127091787-127091787;C/G missense_variant False ANGPTL1@p.H222P 1 0.51 ENSG00000116194 chr1:178865112-178865112;T/G missense_variant False ANGPT4@p.R344Q 1 0.289473684 ENSG00000101280 chr20:879769-879769;C/T missense_variant False ANGPT4@p.N158I 1 0.157480315 ENSG00000101280 chr20:888432-888432;T/A missense_variant False ANGPT4@p.L8P 1 0.289855072 ENSG00000101280 chr20:916192-916192;A/G missense_variant False ANGPT4@p.F484L 1 0.086956522 ENSG00000101280 chr20:873020-873020;G/T missense_variant False ANGPT4@p.E199K 1 0.461538462 ENSG00000101280 chr20:885318-885318;C/T missense_variant False ANK1@p.A610V 1 0.298076923 ENSG00000029534 chr8:41708947-41708947;G/A missense_variant False ANGPT4@p.D434H 1 0.227272727 ENSG00000101280 chr20:874335-874335;C/G missense_variant False ANGPT2@p.T238* 1 0.236363636 ENSG00000091879 chr8:6521232-6521266;GTTGCTGCTTCTGAAGAACTGAATTATTCACCGTG/- frameshift_variant False ANGPT2@p.I309M 1 0.128712871 ENSG00000091879 chr8:6519867-6519867;G/C missense_variant False ANGPT1@p.R330H 1 0.094827586 ENSG00000154188 chr8:107293985-107293985;C/T missense_variant False ANGPT1@p.P351A 1 0.141414141 ENSG00000154188 chr8:107284836-107284836;G/C missense_variant False ANGPT1@p.E174K 1 0.378787879 ENSG00000154188 chr8:107336205-107336205;C/T missense_variant False ANGPTL2@p.Q434H 1 0.238095238 ENSG00000136859 chr9:127089119-127089119;C/G missense_variant False ANGPTL3@p.E143Q 1 0.133333333 ENSG00000132855 chr1:62597993-62597993;G/C missense_variant False ANGPTL3@p.R252T 1 0.225806452 ENSG00000132855 chr1:62601802-62601802;G/C missense_variant False ANGPTL3@p.S217C 1 0.136904762 ENSG00000132855 chr1:62601125-62601125;C/G missense_variant False ANGPTL3@p.S327C 1 0.208333333 ENSG00000132855 chr1:62604017-62604017;C/G missense_variant False ANGPTL4@p.D148N 1 0.409836066 ENSG00000167772 chr19:8366214-8366214;G/A missense_variant False ANGPTL4@p.D173E 1 0.357142857 ENSG00000167772 chr19:8366291-8366291;C/A missense_variant False ANGPTL4@p.D173N 1 0.392857143 ENSG00000167772 chr19:8366289-8366289;G/A missense_variant False ANGPTL4@p.E84K 1 0.444444444 ENSG00000167772 chr19:8364571-8364571;G/A missense_variant False ANGPTL4@p.S357C 1 0.112554113 ENSG00000167772 chr19:8373735-8373735;C/G missense_variant False ANGPTL5@p.E62G 1 0.333333333 ENSG00000187151 chr11:101907159-101907159;T/C missense_variant False ANGPTL5@p.I230V 1 0.355555556 ENSG00000187151 chr11:101895038-101895038;T/C missense_variant False ANGPTL6@p.E344Q 1 0.117647059 ENSG00000130812 chr19:10093541-10093541;C/G missense_variant False ANGPTL6@p.G190D 1 0.363636364 ENSG00000130812 chr19:10095995-10095995;C/T missense_variant False ANGPTL6@p.Y316C 1 0.152777778 ENSG00000130812 chr19:10093697-10093697;T/C missense_variant False ANGPTL8@p.S20L 1 0.386138614 ENSG00000130173 chr19:11239696-11239696;C/T missense_variant False ANK1@p.A378V 1 0.233333333 ENSG00000029534 chr8:41718179-41718179;G/A missense_variant False ALG1L@p.S47F 1 0.1625 None chr3:125932670-125932670;G/A missense_variant False ALG1L@p.L115V 1 0.333333333 None chr3:125930562-125930562;G/C missense_variant False ANKMY1@p.S174L 1 0.322580645 ENSG00000144504 chr2:240529202-240529202;G/A missense_variant False AK9@p.I1627M 1 0.375 ENSG00000155085 chr6:109499209-109499209;G/C missense_variant False AKAP10@p.K637N 1 0.869565217 ENSG00000108599 chr17:19909253-19909253;C/G missense_variant False AKAP10@p.H537Y 1 0.183673469 ENSG00000108599 chr17:19931837-19931837;G/A missense_variant False AKAP10@p.H235Y 1 0.198630137 ENSG00000108599 chr17:19958188-19958188;G/A missense_variant False AKAP10@p.D201E 1 0.26 ENSG00000108599 chr17:19958288-19958288;A/T missense_variant False AK9@p.R1139C 1 0.4 ENSG00000155085 chr6:109533406-109533406;G/A missense_variant False AK9@p.Q1075Afs*22 1 0.271428571 ENSG00000155085 chr6:109545870-109545871;-/T frameshift_variant False AK9@p.E20K 1 0.121212121 ENSG00000155085 chr6:109675688-109675688;C/T missense_variant False AKAP11@p.E1497K 1 0.505376344 ENSG00000023516 chr13:42303235-42303235;G/A missense_variant False AK9@p.D1045H 1 0.081632653 ENSG00000155085 chr6:109545959-109545959;C/G missense_variant False AK9@p.C108Y 1 0.173913043 ENSG00000155085 chr6:109671927-109671927;C/T missense_variant False AK9@p.A1890D 1 0.396449704 ENSG00000155085 chr6:109493436-109493436;G/T missense_variant False AK8@p.R438K 1 0.375 ENSG00000165695 chr9:132725815-132725815;C/T missense_variant False AK8@p.L81M 1 0.142857143 ENSG00000165695 chr9:132863757-132863757;G/T missense_variant False AK8@p.H189Y 1 0.378378378 ENSG00000165695 chr9:132827046-132827046;G/A missense_variant False AKAP10@p.L174Q 1 0.303370787 ENSG00000108599 chr17:19958370-19958370;A/T missense_variant False AKAP11@p.H1753Y 1 0.144736842 ENSG00000023516 chr13:42308593-42308593;C/T missense_variant False AKAP8@p.F464L 1 0.091836735 ENSG00000105127 chr19:15361733-15361733;G/C missense_variant False AKAP12@p.A1423E 1 0.46 ENSG00000131016 chr6:151352659-151352659;C/A missense_variant False AKAP12@p.Q1340E 1 0.072727273 ENSG00000131016 chr6:151352409-151352409;C/G missense_variant False AKAP12@p.P555S 1 0.5 ENSG00000131016 chr6:151350054-151350054;C/T missense_variant False AKAP12@p.L447V 1 0.431578947 ENSG00000131016 chr6:151349730-151349730;T/G missense_variant False AKAP12@p.G703E 1 0.100558659 ENSG00000131016 chr6:151350499-151350499;G/A missense_variant False AKAP12@p.E861Q 1 0.136986301 ENSG00000131016 chr6:151350972-151350972;G/C missense_variant False AKAP12@p.D119H 1 0.258064516 ENSG00000131016 chr6:151348746-151348746;G/C missense_variant False AKAP11@p.Y1447C 1 0.325757576 ENSG00000023516 chr13:42303086-42303086;A/G missense_variant False AKAP11@p.H1754Ifs*2 1 0.217228464 ENSG00000023516 chr13:42308596-42308596;C/- frameshift_variant False AKAP11@p.S666L 1 0.27027027 ENSG00000023516 chr13:42300743-42300743;C/T missense_variant False AKAP11@p.S1715L 1 0.178571429 ENSG00000023516 chr13:42308480-42308480;C/T missense_variant False AKAP11@p.S1619C 1 0.242424242 ENSG00000023516 chr13:42303602-42303602;C/G missense_variant False AKAP11@p.S1249L 1 0.472222222 ENSG00000023516 chr13:42302492-42302492;C/T missense_variant False AKAP11@p.R1664G 1 0.294117647 ENSG00000023516 chr13:42303736-42303736;C/G missense_variant False AKAP11@p.I638M 1 0.095238095 ENSG00000023516 chr13:42300660-42300660;A/G missense_variant False AK7@p.V140F 1 0.152173913 ENSG00000140057 chr14:96408861-96408861;G/T missense_variant False AK7@p.L37V 1 0.369565217 ENSG00000140057 chr14:96398078-96398078;C/G missense_variant False AK7@p.H395Y 1 0.414285714 ENSG00000140057 chr14:96456431-96456431;C/T missense_variant False AJAP1@p.A182T 1 0.4375 ENSG00000196581 chr1:4712414-4712414;G/A missense_variant False AJM1@p.S341F 1 0.217391304 ENSG00000232434 chr9:136845436-136845436;C/T missense_variant False AJM1@p.R709H 1 0.551724138 ENSG00000232434 chr9:136846540-136846540;G/A missense_variant False AJM1@p.P335L 1 0.2 ENSG00000232434 chr9:136845418-136845418;C/T missense_variant False AJM1@p.I739M 1 0.333333333 ENSG00000232434 chr9:136846631-136846631;C/G missense_variant False AJM1@p.G324Afs*62 1 0.120689655 ENSG00000232434 chr9:136845385-136845387;GCG/C frameshift_variant False AJAP1@p.R394W 1 0.192982456 ENSG00000196581 chr1:4774443-4774443;C/T missense_variant False AIRE@p.P148A 1 0.155172414 ENSG00000160224 chr21:44287112-44287112;C/G missense_variant False AK7@p.E637Q 1 0.325581395 ENSG00000140057 chr14:96483154-96483154;G/C missense_variant False AIPL1@p.S31F 1 0.333333333 ENSG00000129221 chr17:6435013-6435013;G/A missense_variant False AIP@p.F88L 1 0.166666667 ENSG00000110711 chr11:67487170-67487170;C/A missense_variant False AIP@p.D204N 1 0.324324324 ENSG00000110711 chr11:67490179-67490179;G/A missense_variant False AIMP2@p.L108F 1 0.180327869 ENSG00000106305 chr7:6015334-6015334;G/C missense_variant False AIMP2@p.G32C 1 0.104166667 ENSG00000106305 chr7:6009457-6009457;G/T missense_variant False AIMP2@p.C291W 1 0.184210526 ENSG00000106305 chr7:6023601-6023601;C/G missense_variant False AJM1@p.S737L 1 0.525 ENSG00000232434 chr9:136846624-136846624;C/T missense_variant False AJM1@p.T431S 1 0.928571429 ENSG00000232434 chr9:136845706-136845706;C/G missense_variant False AJUBA@p.D390N 1 0.23 ENSG00000129474 chr14:22976653-22976653;C/T missense_variant False AJUBA@p.E401Q 1 0.2 ENSG00000129474 chr14:22976494-22976494;C/G missense_variant False AJUBA@p.G43E 1 0.210526316 ENSG00000129474 chr14:22982139-22982139;C/T missense_variant False AJUBA@p.P424T 1 0.21192053 ENSG00000129474 chr14:22975074-22975074;G/T missense_variant False AK1@p.K55N 1 0.5 ENSG00000106992 chr9:127872732-127872732;C/A missense_variant False AK2@p.E157Q 1 0.289855072 ENSG00000004455 chr1:33013306-33013306;C/G missense_variant False AK2@p.M121I 1 0.452095808 ENSG00000004455 chr1:33014531-33014531;C/T missense_variant False AK4@p.E59Q 1 0.104651163 ENSG00000162433 chr1:65190739-65190739;G/C missense_variant False AK4@p.K213N 1 0.285714286 ENSG00000162433 chr1:65226144-65226144;G/T missense_variant False AK4@p.R188Q 1 0.409090909 ENSG00000162433 chr1:65226068-65226068;G/A missense_variant False AK5@p.D238N 1 0.427272727 ENSG00000154027 chr1:77340389-77340389;G/A missense_variant False AK5@p.D349N 1 0.13559322 ENSG00000154027 chr1:77417701-77417701;G/A missense_variant False AK6@p.D77N 1 0.268292683 ENSG00000085231 chr5:69355746-69355746;C/T missense_variant False AK7@p.E426Q 1 0.475 ENSG00000140057 chr14:96458131-96458131;G/C missense_variant False AK7@p.E637K 1 0.625 ENSG00000140057 chr14:96483154-96483154;G/A missense_variant False AKAP12@p.Q549E 1 0.515151515 ENSG00000131016 chr6:151350036-151350036;C/G missense_variant False AKAP12@p.V1558I 1 0.235714286 ENSG00000131016 chr6:151353063-151353063;G/A missense_variant False AKAP13@p.A801T 1 0.211180124 ENSG00000170776 chr15:85580469-85580469;G/A missense_variant False AKAP6@p.F1984L 1 0.421052632 ENSG00000151320 chr14:32823765-32823765;C/G missense_variant False AKAP6@p.R85Q 1 0.540540541 ENSG00000151320 chr14:32433747-32433747;G/A missense_variant False AKAP6@p.R2221K 1 0.176470588 ENSG00000151320 chr14:32824475-32824475;G/A missense_variant False AKAP6@p.R155_L159del 1 0.454545455 ENSG00000151320 chr14:32535688-32535702;GCTTCGAGTCTCAGT/- inframe_deletion False AKAP6@p.N590del 1 0.233333333 ENSG00000151320 chr14:32546419-32546421;ACA/- inframe_deletion False AKAP6@p.M1553V 1 0.292682927 ENSG00000151320 chr14:32822470-32822470;A/G missense_variant False AKAP6@p.L166V 1 0.392156863 ENSG00000151320 chr14:32535725-32535725;C/G missense_variant False AKAP6@p.E491K 1 0.174603175 ENSG00000151320 chr14:32546124-32546124;G/A missense_variant False AKAP3@p.S651C 1 0.153846154 ENSG00000111254 chr12:4626950-4626950;G/C missense_variant False AKAP6@p.E1929D 1 0.153846154 ENSG00000151320 chr14:32823600-32823600;G/C missense_variant False AKAP6@p.D280N 1 0.2 ENSG00000151320 chr14:32545491-32545491;G/A missense_variant False AKAP5@p.L411R 1 0.181818182 ENSG00000179841 chr14:64469626-64469626;T/G missense_variant False AKAP5@p.L230V 1 0.45045045 ENSG00000179841 chr14:64469082-64469082;C/G missense_variant False AKAP5@p.E184K 1 0.666666667 ENSG00000179841 chr14:64468944-64468944;G/A missense_variant False AKAP4@p.N257K 1 0.648648649 ENSG00000147081 chrX:50193942-50193942;G/T missense_variant False AKAP6@p.S1248F 1 0.104477612 ENSG00000151320 chr14:32821556-32821556;C/T missense_variant False AKAP6@p.S1605R 1 0.18 ENSG00000151320 chr14:32822628-32822628;C/A missense_variant False AKAP6@p.S1759C 1 0.333333333 ENSG00000151320 chr14:32823089-32823089;C/G missense_variant False AKAP6@p.S1833C 1 0.462686567 ENSG00000151320 chr14:32823310-32823310;A/T missense_variant False AKAP6@p.S1928L 1 0.179487179 ENSG00000151320 chr14:32823596-32823596;C/T missense_variant False AKAP6@p.S281C 1 0.1 ENSG00000151320 chr14:32545495-32545495;C/G missense_variant False AKAP6@p.S48T 1 0.289473684 ENSG00000151320 chr14:32433635-32433635;T/A missense_variant False AKAP6@p.S722C 1 0.253968254 ENSG00000151320 chr14:32546818-32546818;C/G missense_variant False AKAP6@p.T1450I 1 0.5 ENSG00000151320 chr14:32822162-32822162;C/T missense_variant False AKAP6@p.T388I 1 0.155172414 ENSG00000151320 chr14:32545816-32545816;C/T missense_variant False AKAP6@p.T400S 1 0.384615385 ENSG00000151320 chr14:32545852-32545852;C/G missense_variant False AKAP6@p.T572I 1 0.17721519 ENSG00000151320 chr14:32546368-32546368;C/T missense_variant False AKAP6@p.V1319A 1 0.08 ENSG00000151320 chr14:32821769-32821769;T/C missense_variant False AKAP6@p.Y1002C 1 0.432098765 ENSG00000151320 chr14:32732458-32732458;A/G missense_variant False AKAP6@p.Y136C 1 0.346153846 ENSG00000151320 chr14:32535636-32535636;A/G missense_variant False AKAP7@p.E295K 1 0.325581395 ENSG00000118507 chr6:131281562-131281562;G/A missense_variant False AKAP7@p.E344K 1 0.222222222 ENSG00000118507 chr6:131281709-131281709;G/A missense_variant False AKAP4@p.M578R 1 0.615384615 ENSG00000147081 chrX:50192980-50192980;A/C missense_variant False AKAP3@p.S294C 1 0.156862745 ENSG00000111254 chr12:4628021-4628021;G/C missense_variant False AKAP13@p.D1055G 1 0.145454545 ENSG00000170776 chr15:85581232-85581232;A/G missense_variant False AKAP13@p.P1545T 1 0.183333333 ENSG00000170776 chr15:85655675-85655675;C/A missense_variant False AKAP13@p.R210Q 1 0.151515152 ENSG00000170776 chr15:85543922-85543922;G/A missense_variant False AKAP13@p.R1593K 1 0.155339806 ENSG00000170776 chr15:85658569-85658569;G/A missense_variant False AKAP13@p.R1424K 1 0.168674699 ENSG00000170776 chr15:85645851-85645851;G/A missense_variant False AKAP13@p.R141G 1 0.243243243 ENSG00000170776 chr15:85533823-85533823;A/G missense_variant False AKAP13@p.Q101E 1 0.253012048 ENSG00000170776 chr15:85533703-85533703;C/G missense_variant False AKAP13@p.P703S 1 0.111111111 ENSG00000170776 chr15:85580175-85580175;C/T missense_variant False AKAP13@p.I1862F 1 0.612244898 ENSG00000170776 chr15:85710630-85710630;A/T missense_variant False AKAP3@p.R255K 1 0.148648649 ENSG00000111254 chr12:4628138-4628138;C/T missense_variant False AKAP13@p.H213Y 1 0.229508197 ENSG00000170776 chr15:85543930-85543930;C/T missense_variant False AKAP13@p.E361K 1 0.161764706 ENSG00000170776 chr15:85579149-85579149;G/A missense_variant False AKAP13@p.E2662Q 1 0.375 ENSG00000170776 chr15:85741421-85741421;G/C missense_variant False AKAP13@p.E2639K 1 0.307692308 ENSG00000170776 chr15:85741352-85741352;G/A missense_variant False AKAP13@p.D2499N 1 0.171875 ENSG00000170776 chr15:85735613-85735613;G/A missense_variant False AKAP13@p.D1948N 1 0.528301887 ENSG00000170776 chr15:85717396-85717396;G/A missense_variant False AKAP13@p.S1737F 1 0.158536585 ENSG00000170776 chr15:85684794-85684794;C/T missense_variant False AKAP13@p.S229C 1 0.052083333 ENSG00000170776 chr15:85575154-85575154;C/G missense_variant False AKAP13@p.S368F 1 0.175 ENSG00000170776 chr15:85579171-85579171;C/T missense_variant False AKAP13@p.S803C 1 0.133757962 ENSG00000170776 chr15:85580476-85580476;C/G missense_variant False AKAP14@p.D106N 1 0.196581197 ENSG00000186471 chrX:119914753-119914753;G/A missense_variant False AKAP17A@p.E504K 1 0.19047619 ENSG00000292343 chrX:1601016-1601016;G/A missense_variant False AKAP17A@p.G592E 1 0.125 ENSG00000292343 chrX:1601281-1601281;G/A missense_variant False AKAP17A@p.R68L 1 0.175675676 ENSG00000292343 chrX:1593665-1593665;G/T missense_variant False AKAP1@p.D127N 1 0.353658537 ENSG00000121057 chr17:57105843-57105843;G/A missense_variant False AKAP1@p.E265Q 1 0.258064516 ENSG00000121057 chr17:57106257-57106257;G/C missense_variant False AKAP1@p.I480M 1 0.298850575 ENSG00000121057 chr17:57106904-57106904;C/G missense_variant False AKAP1@p.L111F 1 0.375 ENSG00000121057 chr17:57105795-57105795;C/T missense_variant False AKAP1@p.L869V 1 0.336134454 ENSG00000121057 chr17:57119012-57119012;C/G missense_variant False AKAP1@p.R333I 1 0.368055556 ENSG00000121057 chr17:57106462-57106462;G/T missense_variant False AKAP3@p.D335N 1 0.553571429 ENSG00000111254 chr12:4627899-4627899;C/T missense_variant False AKAP3@p.E828K 1 0.405594406 ENSG00000111254 chr12:4615819-4615819;C/T missense_variant False AKAP3@p.R201K 1 0.298076923 ENSG00000111254 chr12:4628300-4628300;C/T missense_variant False AIMP2@p.C291F 1 0.189189189 ENSG00000106305 chr7:6023600-6023600;G/T missense_variant False AIMP1@p.E178Q 1 0.522727273 ENSG00000164022 chr4:106331812-106331812;G/C missense_variant False AIM2@p.S111Y 1 0.140740741 ENSG00000163568 chr1:159068632-159068632;G/T missense_variant False AHNAK2@p.L4784I 1 0.411214953 ENSG00000185567 chr14:104941101-104941101;G/T missense_variant False AHNAK2@p.Q1595L 1 0.080586081 ENSG00000185567 chr14:104950667-104950667;T/A missense_variant False AHNAK2@p.P703R 1 0.265682657 ENSG00000185567 chr14:104953343-104953343;G/C missense_variant False AHNAK2@p.P5448S 1 0.25 ENSG00000185567 chr14:104939109-104939109;G/A missense_variant False AHNAK2@p.P3767L 1 0.438679245 ENSG00000185567 chr14:104944151-104944151;G/A missense_variant False AHNAK2@p.P2722S 1 0.062893082 ENSG00000185567 chr14:104947287-104947287;G/A missense_variant False AHNAK2@p.P1006L 1 0.330254042 ENSG00000185567 chr14:104952434-104952434;G/A missense_variant False AHNAK2@p.L4231F 1 0.346666667 ENSG00000185567 chr14:104942760-104942760;G/A missense_variant False AHNAK2@p.I3523M 1 0.156682028 ENSG00000185567 chr14:104944882-104944882;A/C missense_variant False AHNAK2@p.L2221H 1 0.448598131 ENSG00000185567 chr14:104948789-104948789;A/T missense_variant False AHNAK2@p.K839N 1 0.31643002 ENSG00000185567 chr14:104952934-104952934;C/G missense_variant False AHNAK2@p.K5035N 1 0.44 ENSG00000185567 chr14:104940346-104940346;C/G missense_variant False AHNAK2@p.K4208T 1 0.054054054 ENSG00000185567 chr14:104942828-104942828;T/G missense_variant False AHNAK2@p.K3809N 1 0.312693498 ENSG00000185567 chr14:104944024-104944024;C/G missense_variant False AHNAK2@p.K3337N 1 0.141242938 ENSG00000185567 chr14:104945440-104945440;C/G missense_variant False AHNAK2@p.Q3609H 1 0.297979798 ENSG00000185567 chr14:104944624-104944624;C/G missense_variant False AHNAK2@p.R2787T 1 0.347457627 ENSG00000185567 chr14:104947091-104947091;C/G missense_variant False AHNAK2@p.R385P 1 0.267759563 ENSG00000185567 chr14:104954297-104954297;C/G missense_variant False AHNAK2@p.R3865H 1 0.283898305 ENSG00000185567 chr14:104943857-104943857;C/T missense_variant False AHNAK2@p.R4771Q 1 0.488888889 ENSG00000185567 chr14:104941139-104941139;C/T missense_variant False AHNAK2@p.S2674C 1 0.488888889 ENSG00000185567 chr14:104947430-104947430;G/C missense_variant False AHNAK2@p.S4425F 1 0.093023256 ENSG00000185567 chr14:104942177-104942177;G/A missense_variant False AHNAK2@p.S5265F 1 0.137931034 ENSG00000185567 chr14:104939657-104939657;G/A missense_variant False AHNAK2@p.S963R 1 0.417910448 ENSG00000185567 chr14:104952562-104952562;G/T missense_variant False AHNAK@p.D1019H 1 0.205357143 ENSG00000124942 chr11:62531362-62531362;C/G missense_variant False AHNAK@p.D1109N 1 0.268115942 ENSG00000124942 chr11:62531092-62531092;C/T missense_variant False AHNAK@p.D1628N 1 0.127659574 ENSG00000124942 chr11:62529535-62529535;C/T missense_variant False AHNAK@p.D2680H 1 0.252252252 ENSG00000124942 chr11:62526379-62526379;C/G missense_variant False AHNAK@p.D3377H 1 0.081967213 ENSG00000124942 chr11:62524288-62524288;C/G missense_variant False AHNAK@p.D3462H 1 0.163398693 ENSG00000124942 chr11:62524033-62524033;C/G missense_variant False AHNAK@p.D4104N 1 0.09 ENSG00000124942 chr11:62522107-62522107;C/T missense_variant False AHNAK@p.D4365H 1 0.284153005 ENSG00000124942 chr11:62521324-62521324;C/G missense_variant False AHNAK2@p.K2754N 1 0.35483871 ENSG00000185567 chr14:104947189-104947189;C/A missense_variant False AHNAK2@p.G4374E 1 0.569832402 ENSG00000185567 chr14:104942330-104942330;C/T missense_variant False AHNAK@p.D5052H 1 0.333938294 ENSG00000124942 chr11:62519263-62519263;C/G missense_variant False AHCYL2@p.Y572C 1 0.131782946 ENSG00000158467 chr7:129426449-129426449;A/G missense_variant False AHDC1@p.P640L 1 0.411214953 ENSG00000126705 chr1:27550197-27550197;G/A missense_variant False AHDC1@p.P540H 1 0.111111111 ENSG00000126705 chr1:27550497-27550497;G/T missense_variant False AHDC1@p.P1454S 1 0.263157895 ENSG00000126705 chr1:27547756-27547756;G/A missense_variant False AHDC1@p.G670D 1 0.064516129 ENSG00000126705 chr1:27550107-27550107;C/T missense_variant False AHDC1@p.G161S 1 0.330434783 ENSG00000126705 chr1:27551635-27551635;C/T missense_variant False AHDC1@p.D388H 1 0.214285714 ENSG00000126705 chr1:27550954-27550954;C/G missense_variant False AHCYL2@p.S285L 1 0.428571429 ENSG00000158467 chr7:129400320-129400320;C/T missense_variant False AHNAK2@p.F3638L 1 0.219409283 ENSG00000185567 chr14:104944537-104944537;G/C missense_variant False AHCYL2@p.E494K 1 0.217948718 ENSG00000158467 chr7:129422858-129422858;G/A missense_variant False AHCYL2@p.E286Q 1 0.289156627 ENSG00000158467 chr7:129400322-129400322;G/C missense_variant False AHCYL1@p.M388I 1 0.380952381 ENSG00000168710 chr1:110018413-110018413;G/A missense_variant False AHCY@p.E411D 1 0.180327869 ENSG00000101444 chr20:34281100-34281100;C/G missense_variant False AHCTF1@p.V905Sfs*5 1 0.415384615 ENSG00000153207 chr1:246885545-246885546;-/T frameshift_variant False AHCTF1@p.T1723I 1 0.215053763 ENSG00000153207 chr1:246850943-246850943;G/A missense_variant False AHI1@p.D1051H 1 0.2 ENSG00000135541 chr6:135358146-135358146;C/G missense_variant False AHI1@p.D382H 1 0.260869565 ENSG00000135541 chr6:135457501-135457501;C/G missense_variant False AHI1@p.E555Q 1 0.336633663 ENSG00000135541 chr6:135447124-135447124;C/G missense_variant False AHI1@p.G935V 1 0.487179487 ENSG00000135541 chr6:135411505-135411505;C/A missense_variant False AHI1@p.K91R 1 0.106007067 ENSG00000135541 chr6:135466291-135466291;T/C missense_variant False AHNAK2@p.A2600V 1 0.157718121 ENSG00000185567 chr14:104947652-104947652;G/A missense_variant False AHNAK2@p.A3610S 1 0.301507538 ENSG00000185567 chr14:104944623-104944623;C/A missense_variant False AHNAK2@p.A3943G 1 0.365313653 ENSG00000185567 chr14:104943623-104943623;G/C missense_variant False AHNAK2@p.D364N 1 0.111111111 ENSG00000185567 chr14:104954361-104954361;C/T missense_variant False AHNAK2@p.D4111N 1 0.052256532 ENSG00000185567 chr14:104943120-104943120;C/T missense_variant False AHNAK2@p.D5379Y 1 0.3 ENSG00000185567 chr14:104939316-104939316;C/A missense_variant False AHNAK2@p.E3366K 1 0.20233463 ENSG00000185567 chr14:104945355-104945355;C/T missense_variant False AHNAK2@p.E3383K 1 0.299093656 ENSG00000185567 chr14:104945304-104945304;C/T missense_variant False AHNAK2@p.E4269K 1 0.171945701 ENSG00000185567 chr14:104942646-104942646;C/T missense_variant False AHNAK2@p.E5784K 1 0.236842105 ENSG00000185567 chr14:104938101-104938101;C/T missense_variant False AHNAK2@p.F1823L 1 0.108280255 ENSG00000185567 chr14:104949982-104949982;G/C missense_variant False AHNAK2@p.F2653L 1 0.416851441 ENSG00000185567 chr14:104947494-104947494;A/G missense_variant False AHNAK@p.D4855Y 1 0.201680672 ENSG00000124942 chr11:62519854-62519854;C/A missense_variant False AHNAK@p.D5362N 1 0.390243902 ENSG00000124942 chr11:62518333-62518333;C/T missense_variant False AIM2@p.K204N 1 0.103092784 ENSG00000163568 chr1:159066114-159066114;C/G missense_variant False AHR@p.P271A 1 0.113207547 ENSG00000106546 chr7:17334017-17334017;C/G missense_variant False AHRR@p.N154H 1 0.555555556 ENSG00000063438 chr5:422747-422747;A/C missense_variant False AHRR@p.K29N 1 0.13559322 ENSG00000063438 chr5:353754-353754;G/C missense_variant False AHRR@p.F80S 1 0.255813953 ENSG00000063438 chr5:353906-353906;T/C missense_variant False AHR@p.Q822H 1 0.227272727 ENSG00000106546 chr7:17342983-17342983;G/C missense_variant False AHR@p.Q273K 1 0.177966102 ENSG00000106546 chr7:17334023-17334023;C/A missense_variant False AHR@p.P27Q 1 0.125 ENSG00000106546 chr7:17309950-17309950;C/A missense_variant False AHR@p.P214L 1 0.333333333 ENSG00000106546 chr7:17330822-17330822;C/T missense_variant False AHNAK@p.S5604C 1 0.294416244 ENSG00000124942 chr11:62517606-62517606;G/C missense_variant False AHR@p.G248A 1 0.365384615 ENSG00000106546 chr7:17333949-17333949;G/C missense_variant False AHR@p.F566S 1 0.052083333 ENSG00000106546 chr7:17339522-17339522;T/C missense_variant False AHR@p.E690K 1 0.363636364 ENSG00000106546 chr7:17339893-17339893;G/A missense_variant False AHR@p.E393K 1 0.29375 ENSG00000106546 chr7:17339002-17339002;G/A missense_variant False AHR@p.E169Q 1 0.101851852 ENSG00000106546 chr7:17330006-17330006;G/C missense_variant False AHR@p.C664F 1 0.497076023 ENSG00000106546 chr7:17339816-17339816;G/T missense_variant False AHSA1@p.E281K 1 0.235955056 ENSG00000100591 chr14:77468505-77468505;G/A missense_variant False AHSA1@p.E82K 1 0.195652174 ENSG00000100591 chr14:77459779-77459779;G/A missense_variant False AHSA1@p.R145G 1 0.346153846 ENSG00000100591 chr14:77462720-77462720;A/G missense_variant False AHSG@p.A188T 1 0.471264368 ENSG00000145192 chr3:186617339-186617339;G/A missense_variant False AHSG@p.D148G 1 0.369565217 ENSG00000145192 chr3:186617220-186617220;A/G missense_variant False AHSG@p.F250L 1 0.268656716 ENSG00000145192 chr3:186619931-186619931;C/G missense_variant False AHSG@p.P35S 1 0.104477612 ENSG00000145192 chr3:186613244-186613244;C/T missense_variant False AHSG@p.S74F 1 0.416666667 ENSG00000145192 chr3:186615692-186615692;C/T missense_variant False AIDA@p.S82C 1 0.292682927 ENSG00000186063 chr1:222693833-222693833;G/C missense_variant False AIF1L@p.M57I 1 0.052631579 ENSG00000126878 chr9:131114587-131114587;G/A missense_variant False AIFM1@p.R153W 1 0.341463415 ENSG00000156709 chrX:130147769-130147769;G/A missense_variant False AIFM1@p.S182L 1 0.822580645 ENSG00000156709 chrX:130147553-130147553;G/A missense_variant False AIFM2@p.H104Y 1 0.66 ENSG00000042286 chr10:70121196-70121196;G/A missense_variant False AIFM2@p.L241V 1 0.142857143 ENSG00000042286 chr10:70116670-70116670;G/C missense_variant False AIFM2@p.S362C 1 0.278688525 ENSG00000042286 chr10:70114215-70114215;G/C missense_variant False AIFM3@p.E28K 1 0.416666667 ENSG00000183773 chr22:20973357-20973357;G/A missense_variant False AIG1@p.H131Y 1 0.35042735 ENSG00000146416 chr6:143165175-143165175;C/T missense_variant False AHNAK@p.V1877M 1 0.1 ENSG00000124942 chr11:62528788-62528788;C/T missense_variant False AHNAK@p.S5448L 1 0.335403727 ENSG00000124942 chr11:62518074-62518074;G/A missense_variant False AHNAK@p.E1315K 1 0.036734694 ENSG00000124942 chr11:62530474-62530474;C/T missense_variant False AHNAK@p.F4793L 1 0.19434629 ENSG00000124942 chr11:62520038-62520038;G/C missense_variant False AHNAK@p.I2615M 1 0.136986301 ENSG00000124942 chr11:62526572-62526572;G/C missense_variant False AHNAK@p.I2025M 1 0.165450122 ENSG00000124942 chr11:62528342-62528342;G/C missense_variant False AHNAK@p.G5804W 1 0.285714286 ENSG00000124942 chr11:62517007-62517007;C/A missense_variant False AHNAK@p.G3979V 1 0.301204819 ENSG00000124942 chr11:62522481-62522481;C/A missense_variant False AHNAK@p.G2491A 1 0.374384236 ENSG00000124942 chr11:62526945-62526945;C/G missense_variant False AHNAK@p.G1478A 1 0.189781022 ENSG00000124942 chr11:62529984-62529984;C/G missense_variant False AHNAK@p.E926K 1 0.274590164 ENSG00000124942 chr11:62531641-62531641;C/T missense_variant False AHNAK@p.S4594C 1 0.392307692 ENSG00000124942 chr11:62520636-62520636;G/C missense_variant False AHNAK@p.E5002K 1 0.198113208 ENSG00000124942 chr11:62519413-62519413;C/T missense_variant False AHNAK@p.E2868Q 1 0.159509202 ENSG00000124942 chr11:62525815-62525815;C/G missense_variant False AHNAK@p.E2571Q 1 0.072886297 ENSG00000124942 chr11:62526706-62526706;C/G missense_variant False AHNAK@p.E2526K 1 0.255605381 ENSG00000124942 chr11:62526841-62526841;C/T missense_variant False AHNAK@p.E2338Q 1 0.229357798 ENSG00000124942 chr11:62527405-62527405;C/G missense_variant False AHNAK@p.E2097K 1 0.031914894 ENSG00000124942 chr11:62528128-62528128;C/T missense_variant False AHNAK@p.I2622M 1 0.336842105 ENSG00000124942 chr11:62526551-62526551;A/C missense_variant False AHNAK@p.I349M 1 0.13253012 ENSG00000124942 chr11:62533370-62533370;G/C missense_variant False AHNAK@p.I4293M 1 0.4296875 ENSG00000124942 chr11:62521538-62521538;G/C missense_variant False AHNAK@p.I5136M 1 0.346153846 ENSG00000124942 chr11:62519009-62519009;G/C missense_variant False AHNAK@p.K2824N 1 0.213017751 ENSG00000124942 chr11:62525945-62525945;C/G missense_variant False AHNAK@p.K3282N 1 0.058823529 ENSG00000124942 chr11:62524571-62524571;C/G missense_variant False AHNAK@p.K3573Q 1 0.194312796 ENSG00000124942 chr11:62523700-62523700;T/G missense_variant False AHNAK@p.L2864V 1 0.183520599 ENSG00000124942 chr11:62525827-62525827;G/C missense_variant False AHNAK@p.L4704V 1 0.518151815 ENSG00000124942 chr11:62520307-62520307;G/C missense_variant False AHNAK@p.L5304V 1 0.337748344 ENSG00000124942 chr11:62518507-62518507;G/C missense_variant False AHNAK@p.M2487I 1 0.307692308 ENSG00000124942 chr11:62526956-62526956;C/T missense_variant False AHNAK@p.N812I 1 0.285714286 ENSG00000124942 chr11:62531982-62531982;T/A missense_variant False AHNAK@p.P3103H 1 0.291066282 ENSG00000124942 chr11:62525109-62525109;G/T missense_variant False AHNAK@p.P3859T 1 0.2 ENSG00000124942 chr11:62522842-62522842;G/T missense_variant False AHNAK@p.Q5636P 1 0.238095238 ENSG00000124942 chr11:62517510-62517510;T/G missense_variant False AHNAK@p.R155K 1 0.141666667 ENSG00000124942 chr11:62533953-62533953;C/T missense_variant False AHNAK@p.S379L 1 0.1 ENSG00000124942 chr11:62533281-62533281;G/A missense_variant False AKAP7@p.I248F 1 0.280701754 ENSG00000118507 chr6:131219700-131219700;A/T missense_variant False AKAP8@p.G593R 1 0.302816901 ENSG00000105127 chr19:15355217-15355217;C/T missense_variant False ALG1@p.Y103H 1 0.235294118 ENSG00000033011 chr16:5073173-5073173;T/C missense_variant False ALAS2@p.S386C 1 0.755555556 ENSG00000158578 chrX:55015589-55015589;G/C missense_variant False ALB@p.R545K 1 0.333333333 ENSG00000163631 chr4:73418293-73418293;G/A missense_variant False ALB@p.R372S 1 0.111842105 ENSG00000163631 chr4:73415092-73415092;A/T missense_variant False ALB@p.E268V 1 0.336734694 ENSG00000163631 chr4:73412085-73412085;A/T missense_variant False ALB@p.D80Y 1 0.156862745 ENSG00000163631 chr4:73406729-73406729;G/T missense_variant False ALB@p.D279N 1 0.4 ENSG00000163631 chr4:73412117-73412117;G/A missense_variant False ALB@p.D145N 1 0.333333333 ENSG00000163631 chr4:73408756-73408756;G/A missense_variant False ALAS2@p.Q50E 1 0.162162162 ENSG00000158578 chrX:55025853-55025853;G/C missense_variant False ALCAM@p.D193H 1 0.121212121 ENSG00000170017 chr3:105534692-105534692;G/C missense_variant False ALAS1@p.Y253D 1 0.42 ENSG00000023330 chr3:52204872-52204872;T/G missense_variant False ALAS1@p.V14G 1 0.178217822 ENSG00000023330 chr3:52199282-52199282;T/G missense_variant False ALAS1@p.S605F 1 0.2 ENSG00000023330 chr3:52214071-52214071;C/T missense_variant False ALAS1@p.R550K 1 0.736462094 ENSG00000023330 chr3:52212307-52212307;G/A missense_variant False ALAS1@p.Q20H 1 0.423076923 ENSG00000023330 chr3:52199301-52199301;G/C missense_variant False ALAS1@p.L477V 1 0.677419355 ENSG00000023330 chr3:52211381-52211381;C/G missense_variant False ALB@p.V442M 1 0.684210526 ENSG00000163631 chr4:73417565-73417565;G/A missense_variant False ALCAM@p.E123K 1 0.234042553 ENSG00000170017 chr3:105524481-105524481;G/A missense_variant False AKAP8@p.L451F 1 0.118181818 ENSG00000105127 chr19:15361772-15361772;C/G missense_variant False ALDH1A1@p.E399Q 1 0.366666667 ENSG00000165092 chr9:72911963-72911963;C/G missense_variant False ALDH1A2@p.G152C 1 0.5 ENSG00000128918 chr15:58010688-58010688;C/A missense_variant False ALDH1A2@p.F313L 1 0.186046512 ENSG00000128918 chr15:57964032-57964032;G/C missense_variant False ALDH1A1@p.W375S 1 0.203883495 ENSG00000165092 chr9:72912034-72912034;C/G missense_variant False ALDH1A1@p.M109I 1 0.5625 ENSG00000165092 chr9:72929007-72929007;C/G missense_variant False ALDH1A1@p.K273T 1 0.345794393 ENSG00000165092 chr9:72918752-72918752;T/G missense_variant False ALDH1A1@p.E485K 1 0.386554622 ENSG00000165092 chr9:72901261-72901261;C/T missense_variant False ALDH18A1@p.S42F 1 0.215686275 ENSG00000059573 chr10:95643170-95643170;G/A missense_variant False ALCAM@p.E488K 1 0.583333333 ENSG00000170017 chr3:105550214-105550214;G/A missense_variant False ALDH18A1@p.G730D 1 0.297297297 ENSG00000059573 chr10:95610214-95610214;C/T missense_variant False ALDH18A1@p.A445V 1 0.35483871 ENSG00000059573 chr10:95621164-95621164;G/A missense_variant False ALDH16A1@p.R542Q 1 0.340425532 ENSG00000161618 chr19:49465794-49465794;G/A missense_variant False ALDH16A1@p.L681R 1 0.356382979 ENSG00000161618 chr19:49468484-49468484;T/G missense_variant False ALDH16A1@p.G343V 1 0.211538462 ENSG00000161618 chr19:49462685-49462685;G/T missense_variant False ALDH16A1@p.A95G 1 0.347826087 ENSG00000161618 chr19:49459050-49459050;C/G missense_variant False ALAS1@p.L185F 1 0.081481481 ENSG00000023330 chr3:52203988-52203988;C/T missense_variant False ALAS1@p.K176_Q177del 1 0.142857143 ENSG00000023330 chr3:52203957-52203962;GCAAAA/- inframe_deletion False ALAS1@p.F471L 1 0.266666667 ENSG00000023330 chr3:52211365-52211365;C/A missense_variant False AL592490.1@p.A892V 1 0.842105263 None chr13:61411424-61411424;G/A missense_variant False AL592490.1@p.L833F 1 0.366666667 None chr13:61411602-61411602;G/A missense_variant False AL592490.1@p.L627H 1 0.211267606 None chr13:61412219-61412219;A/T missense_variant False AL592490.1@p.I687V 1 0.368932039 None chr13:61412040-61412040;T/C missense_variant False AL592490.1@p.H394Y 1 0.086206897 None chr13:61412919-61412919;G/A missense_variant False AL592490.1@p.E220Q 1 0.074074074 None chr13:61413441-61413441;C/G missense_variant False AL592490.1@p.D613H 1 0.393939394 None chr13:61412262-61412262;C/G missense_variant False AL592490.1@p.A506S 1 0.451977401 None chr13:61412583-61412583;C/A missense_variant False ALAS1@p.E143Rfs*14 1 0.261904762 ENSG00000023330 chr3:52202729-52202729;G/- frameshift_variant False AL441992.2@p.R363dup 1 0.098360656 None chr9:128835823-128835824;-/CCG inframe_insertion False AL163636.1@p.V13M 1 0.31884058 None chr14:20693601-20693601;G/A missense_variant False AL136295.1@p.S421L 1 0.291666667 None chr14:24192980-24192980;G/A missense_variant False AL136295.1@p.S196C 1 0.042253521 None chr14:24210371-24210371;G/C missense_variant False AL136295.1@p.D399G 1 0.245614035 None chr14:24193046-24193046;T/C missense_variant False AL136295.1@p.A475T 1 0.198113208 None chr14:24192819-24192819;C/T missense_variant False AL592490.1@p.R227G 1 0.27173913 None chr13:61413420-61413420;G/C missense_variant False AL592490.1@p.T356I 1 0.34375 None chr13:61413032-61413032;G/A missense_variant False AL592490.1@p.V363I 1 0.279279279 None chr13:61413012-61413012;C/T missense_variant False AL592490.1@p.V648Cfs*3 1 0.173913043 None chr13:61412157-61412158;-/A frameshift_variant False AL645922.1@p.A342G 1 0.113043478 None chr6:31943444-31943444;C/G missense_variant False AL645922.1@p.D891N 1 0.19047619 None chr6:31948958-31948958;G/A missense_variant False AL645922.1@p.D949H 1 0.285714286 None chr6:31949488-31949488;G/C missense_variant False AL645922.1@p.E750Q 1 0.437837838 None chr6:31947825-31947825;G/C missense_variant False AL645922.1@p.R1181G 1 0.348837209 None chr6:31951419-31951419;C/G missense_variant False AL645922.1@p.S125L 1 0.433121019 None chr6:31933727-31933727;C/T missense_variant False AL662899.2@p.D51E 1 0.23655914 None chr6:31667948-31667948;C/G missense_variant False AL662899.2@p.I83M 1 0.60106383 None chr6:31668612-31668612;C/G missense_variant False AL662899.2@p.M52I 1 0.15 None chr6:31667951-31667951;G/T missense_variant False AL713999.2@p.H120Y 1 0.291666667 None chr1:155172741-155172741;G/A missense_variant False ALAD@p.E103Q 1 0.5 ENSG00000148218 chr9:113390888-113390888;C/G missense_variant False ALAD@p.E263Q 1 0.136363636 ENSG00000148218 chr9:113389452-113389452;C/G missense_variant False ALAD@p.L273V 1 0.48 ENSG00000148218 chr9:113389091-113389091;G/C missense_variant False ALDH1A2@p.L23R 1 0.4375 ENSG00000128918 chr15:58065583-58065583;A/C missense_variant False ALDH1A3@p.V397F 1 0.512195122 ENSG00000184254 chr15:100905643-100905643;G/T missense_variant False ALDH1A3@p.V428M 1 0.673469388 ENSG00000184254 chr15:100907169-100907169;G/A missense_variant False ALDOC@p.I186M 1 0.387755102 ENSG00000109107 chr17:28574560-28574560;A/C missense_variant False ALG10B@p.A154S 1 0.393103448 ENSG00000175548 chr12:38320251-38320251;G/T missense_variant False ALG10@p.W338C 1 0.280373832 ENSG00000139133 chr12:34026507-34026507;G/C missense_variant False ALG10@p.Q3H 1 0.161616162 ENSG00000139133 chr12:34022608-34022608;G/C missense_variant False ALG10@p.H41Q 1 0.410138249 ENSG00000139133 chr12:34022722-34022722;C/G missense_variant False ALG10@p.F453L 1 0.471544715 ENSG00000139133 chr12:34026852-34026852;C/A missense_variant False ALDOC@p.R69C 1 0.290322581 ENSG00000109107 chr17:28575242-28575242;G/A missense_variant False ALDOB@p.R173C 1 0.436619718 ENSG00000136872 chr9:101427505-101427505;G/A missense_variant False ALDH9A1@p.P247S 1 0.158490566 ENSG00000143149 chr1:165680537-165680537;G/A missense_variant False ALDOB@p.P231R 1 0.40625 ENSG00000136872 chr9:101425560-101425560;G/C missense_variant False ALDOB@p.D141Y 1 0.063492063 ENSG00000136872 chr9:101427601-101427601;C/A missense_variant False ALDOA@p.R203H 1 0.237288136 ENSG00000149925 chr16:30068884-30068884;G/A missense_variant False ALDOA@p.E187K 1 0.12244898 ENSG00000149925 chr16:30068835-30068835;G/A missense_variant False ALDOA@p.E107K 1 0.169491525 ENSG00000149925 chr16:30067494-30067494;G/A missense_variant False ALDOA@p.D248N 1 0.125 ENSG00000149925 chr16:30069345-30069345;G/A missense_variant False ALG10B@p.K173E 1 0.491620112 ENSG00000175548 chr12:38320308-38320308;A/G missense_variant False ALG10B@p.P289S 1 0.205882353 ENSG00000175548 chr12:38320656-38320656;C/T missense_variant False ALG10B@p.Q3E 1 0.146226415 ENSG00000175548 chr12:38316900-38316900;C/G missense_variant False ALG10B@p.S387L 1 0.443298969 ENSG00000175548 chr12:38320951-38320951;C/T missense_variant False ALG11@p.C274R 1 0.340659341 ENSG00000253710 chr13:52024550-52024550;T/C missense_variant False ALG11@p.E114K 1 0.153846154 ENSG00000253710 chr13:52024070-52024070;G/A missense_variant False ALG11@p.F228L 1 0.065217391 ENSG00000253710 chr13:52024412-52024412;T/C missense_variant False ALG11@p.Q213E 1 0.317460317 ENSG00000253710 chr13:52024367-52024367;C/G missense_variant False ALG11@p.S258F 1 0.368421053 ENSG00000253710 chr13:52024503-52024503;C/T missense_variant False ALG12@p.D394N 1 0.166666667 ENSG00000182858 chr22:49904237-49904237;C/T missense_variant False ALG12@p.S86L 1 0.163265306 ENSG00000182858 chr22:49913423-49913423;G/A missense_variant False ALG13@p.M706I 1 0.108108108 ENSG00000101901 chrX:111727641-111727641;G/A missense_variant False ALG13@p.P1017S 1 0.571428571 ENSG00000101901 chrX:111757663-111757663;C/T missense_variant False ALG13@p.P196L 1 0.115942029 ENSG00000101901 chrX:111708230-111708230;C/T missense_variant False ALG13@p.Y997C 1 0.5 ENSG00000101901 chrX:111757604-111757604;A/G missense_variant False ALG14@p.R104Q 1 0.16 ENSG00000172339 chr1:95027238-95027238;C/T missense_variant False ALG1@p.K106I 1 0.183673469 ENSG00000033011 chr16:5073183-5073183;A/T missense_variant False ALDOA@p.D164N 1 0.19047619 ENSG00000149925 chr16:30068649-30068649;G/A missense_variant False ALDH9A1@p.F468L 1 0.378787879 ENSG00000143149 chr1:165665076-165665076;G/T missense_variant False ALDH1B1@p.E353Q 1 0.280898876 ENSG00000137124 chr9:38396805-38396805;G/C missense_variant False ALDH1L2@p.G286R 1 0.272727273 ENSG00000136010 chr12:105062953-105062953;C/G missense_variant False ALDH3A1@p.E6K 1 0.319444444 ENSG00000108602 chr17:19745114-19745114;C/T missense_variant False ALDH3A1@p.E380D 1 0.222222222 ENSG00000108602 chr17:19739072-19739072;C/G missense_variant False ALDH3A1@p.E333Q 1 0.131578947 ENSG00000108602 chr17:19739627-19739627;C/G missense_variant False ALDH2@p.D164A 1 0.333333333 ENSG00000111275 chr12:111789873-111789873;A/C missense_variant False ALDH1L2@p.R862T 1 0.145945946 ENSG00000136010 chr12:105026676-105026676;C/G missense_variant False ALDH1L2@p.I259K 1 0.363636364 ENSG00000136010 chr12:105065277-105065277;A/T missense_variant False ALDH1L2@p.E784K 1 0.31372549 ENSG00000136010 chr12:105031829-105031829;C/T missense_variant False ALDH9A1@p.E114K 1 0.16091954 ENSG00000143149 chr1:165683098-165683098;C/T missense_variant False ALDH1L2@p.E280K 1 0.6 ENSG00000136010 chr12:105062971-105062971;C/T missense_variant False ALDH1L1@p.R781W 1 0.266666667 ENSG00000144908 chr3:126109950-126109950;G/A missense_variant False ALDH1L1@p.L607F 1 0.184210526 ENSG00000144908 chr3:126124431-126124431;C/G missense_variant False ALDH1L1@p.E185D 1 0.40625 ENSG00000144908 chr3:126155477-126155477;C/G missense_variant False ALDH1B1@p.R78Q 1 0.185714286 ENSG00000137124 chr9:38395981-38395981;G/A missense_variant False ALDH1B1@p.Q192E 1 0.4 ENSG00000137124 chr9:38396322-38396322;C/G missense_variant False ALDH3A1@p.S102L 1 0.580645161 ENSG00000108602 chr17:19743321-19743321;G/A missense_variant False ALDH3A1@p.S17L 1 0.525 ENSG00000108602 chr17:19745080-19745080;G/A missense_variant False ALDH3A2@p.V189F 1 0.229508197 ENSG00000072210 chr17:19656459-19656459;G/T missense_variant False ALDH3B1@p.D313N 1 0.486486486 ENSG00000006534 chr11:68021859-68021859;G/A missense_variant False ALDH3B1@p.E178Q 1 0.22147651 ENSG00000006534 chr11:68019766-68019766;G/C missense_variant False ALDH3B1@p.E353K 1 0.512396694 ENSG00000006534 chr11:68022702-68022702;G/A missense_variant False ALDH3B2@p.E269K 1 0.198412698 ENSG00000132746 chr11:67664464-67664464;C/T missense_variant False ALDH3B2@p.T8K 1 0.108108108 ENSG00000132746 chr11:67666913-67666913;G/T missense_variant False ALDH4A1@p.E465Q 1 0.240506329 ENSG00000159423 chr1:18875449-18875449;C/G missense_variant False ALDH4A1@p.I506M 1 0.306818182 ENSG00000159423 chr1:18874524-18874524;G/C missense_variant False ALDH4A1@p.R250W 1 0.228070175 ENSG00000159423 chr1:18881818-18881818;G/A missense_variant False ALDH7A1@p.D152H 1 0.9 ENSG00000164904 chr5:126582914-126582914;C/G missense_variant False ALDH7A1@p.E441K 1 0.179487179 ENSG00000164904 chr5:126550290-126550290;C/T missense_variant False ALDH8A1@p.A244S 1 0.655172414 ENSG00000118514 chr6:134932895-134932895;C/A missense_variant False ALDH8A1@p.I450M 1 0.704545455 ENSG00000118514 chr6:134918529-134918529;G/C missense_variant False ALDH8A1@p.L346V 1 0.691358025 ENSG00000118514 chr6:134918843-134918843;G/C missense_variant False ALDH8A1@p.S425F 1 0.682926829 ENSG00000118514 chr6:134918605-134918605;G/A missense_variant False AL121899.2@p.Y82C 1 0.275590551 None chr20:2310184-2310184;A/G missense_variant False AL121899.2@p.T488M 1 0.493333333 None chr20:2332074-2332074;C/T missense_variant False AL121899.2@p.D608V 1 0.109756098 None chr20:2335239-2335239;A/T missense_variant False AKAP9@p.R2141K 1 0.352941176 ENSG00000127914 chr7:92066542-92066542;G/A missense_variant False AKAP9@p.S1792Y 1 0.25974026 ENSG00000127914 chr7:92045124-92045124;C/A missense_variant False AKAP9@p.S1278R 1 0.489361702 ENSG00000127914 chr7:92017099-92017099;C/G missense_variant False AKAP9@p.S1200C 1 0.3125 ENSG00000127914 chr7:92014315-92014315;C/G missense_variant False AKAP9@p.R3822K 1 0.133333333 ENSG00000127914 chr7:92105740-92105740;G/A missense_variant False AKAP9@p.R3502T 1 0.151515152 ENSG00000127914 chr7:92097620-92097620;G/C missense_variant False AKAP9@p.R3500T 1 0.313253012 ENSG00000127914 chr7:92097614-92097614;G/C missense_variant False AKAP9@p.R1562T 1 0.113207547 ENSG00000127914 chr7:92038765-92038765;G/C missense_variant False AKAP9@p.M2034I 1 0.4 ENSG00000127914 chr7:92065259-92065259;G/C missense_variant False AKAP9@p.Q3871H 1 0.591836735 ENSG00000127914 chr7:92107417-92107417;G/C missense_variant False AKAP9@p.Q3156E 1 0.148148148 ENSG00000127914 chr7:92093132-92093132;C/G missense_variant False AKAP9@p.Q2411E 1 0.106382979 ENSG00000127914 chr7:92079292-92079292;C/G missense_variant False AKAP9@p.Q2252K 1 0.428571429 ENSG00000127914 chr7:92076924-92076924;C/A missense_variant False AKAP9@p.Q1192E 1 0.195121951 ENSG00000127914 chr7:92014290-92014290;C/G missense_variant False AKAP9@p.P1381S 1 0.37037037 ENSG00000127914 chr7:92023002-92023002;C/T missense_variant False AKAP9@p.S2264C 1 0.365853659 ENSG00000127914 chr7:92076961-92076961;C/G missense_variant False AKAP9@p.S2956R 1 0.087378641 ENSG00000127914 chr7:92084904-92084904;T/G missense_variant False AKAP9@p.S60L 1 0.383333333 ENSG00000127914 chr7:91973841-91973841;C/T missense_variant False AKAP9@p.T2849P 1 0.227272727 ENSG00000127914 chr7:92083482-92083482;A/C missense_variant False AKIRIN1@p.E155Q 1 0.278481013 ENSG00000174574 chr1:39001073-39001073;G/C missense_variant False AKNA@p.A1049Pfs*123 1 0.170731707 ENSG00000106948 chr9:114350936-114350936;G/- frameshift_variant False AKNA@p.A1361T 1 0.310344828 ENSG00000106948 chr9:114337293-114337293;C/T missense_variant False AKNA@p.D97N 1 0.076923077 ENSG00000106948 chr9:114377518-114377518;C/T missense_variant False AKNA@p.E1410K 1 0.371428571 ENSG00000106948 chr9:114337146-114337146;C/T missense_variant False AKNA@p.E555K 1 0.25 ENSG00000106948 chr9:114367608-114367608;C/T missense_variant False AKNA@p.E737Q 1 0.173913043 ENSG00000106948 chr9:114359978-114359978;C/G missense_variant False AKNA@p.E942Q 1 0.3125 ENSG00000106948 chr9:114356885-114356885;C/G missense_variant False AKNA@p.E96Q 1 0.25862069 ENSG00000106948 chr9:114377521-114377521;C/G missense_variant False AKNA@p.G627S 1 0.529411765 ENSG00000106948 chr9:114362443-114362443;C/T missense_variant False AKNA@p.S935L 1 0.177083333 ENSG00000106948 chr9:114356905-114356905;G/A missense_variant False AKNA@p.T1136A 1 0.278481013 ENSG00000106948 chr9:114346777-114346777;T/C missense_variant False AKNAD1@p.D656H 1 0.299319728 ENSG00000162641 chr1:108823659-108823659;C/G missense_variant False AKAP9@p.M3336I 1 0.344262295 ENSG00000127914 chr7:92096895-92096895;G/A missense_variant False AKAP9@p.M1451I 1 0.291666667 ENSG00000127914 chr7:92038433-92038433;G/C missense_variant False AKNAD1@p.E618Q 1 0.346774194 ENSG00000162641 chr1:108827289-108827289;C/G missense_variant False AKAP9@p.D657H 1 0.15625 ENSG00000127914 chr7:92001886-92001886;G/C missense_variant False AKAP9@p.E2075Q 1 0.2 ENSG00000127914 chr7:92065380-92065380;G/C missense_variant False AKAP9@p.E1993Q 1 0.066176471 ENSG00000127914 chr7:92062390-92062390;G/C missense_variant False AKAP9@p.E1972Q 1 0.220833333 ENSG00000127914 chr7:92062327-92062327;G/C missense_variant False AKAP9@p.E1953K 1 0.222222222 ENSG00000127914 chr7:92061419-92061419;G/A missense_variant False AKAP9@p.E1948Q 1 0.105263158 ENSG00000127914 chr7:92061404-92061404;G/C missense_variant False AKAP9@p.E1930K 1 0.469135802 ENSG00000127914 chr7:92061350-92061350;G/A missense_variant False AKAP9@p.D570H 1 0.214285714 ENSG00000127914 chr7:92001625-92001625;G/C missense_variant False AKAP9@p.L3472Tfs*10 1 0.375 ENSG00000127914 chr7:92097298-92097299;-/A frameshift_variant False AKAP9@p.D3035N 1 0.255813953 ENSG00000127914 chr7:92086234-92086234;G/A missense_variant False AKAP8L@p.S392F 1 0.555555556 ENSG00000011243 chr19:15397838-15397838;G/A missense_variant False AKAP8L@p.R380Q 1 0.196721311 ENSG00000011243 chr19:15399320-15399320;C/T missense_variant False AKAP8L@p.M505V 1 0.176100629 ENSG00000011243 chr19:15397173-15397173;T/C missense_variant False AKAP8L@p.A566P 1 0.5 ENSG00000011243 chr19:15380367-15380367;C/G missense_variant False AKAP8L@p.A207V 1 0.202898551 ENSG00000011243 chr19:15401346-15401346;G/A missense_variant False AKAP9@p.E2242K 1 0.228070175 ENSG00000127914 chr7:92076894-92076894;G/A missense_variant False AKAP9@p.E2620K 1 0.558823529 ENSG00000127914 chr7:92079919-92079919;G/A missense_variant False AKAP9@p.E3389K 1 0.28 ENSG00000127914 chr7:92097052-92097052;G/A missense_variant False AKAP9@p.E3389Q 1 0.152542373 ENSG00000127914 chr7:92097052-92097052;G/C missense_variant False AKAP9@p.E3610K 1 0.229508197 ENSG00000127914 chr7:92099729-92099729;G/A missense_variant False AKAP9@p.E514K 1 0.198113208 ENSG00000127914 chr7:92001457-92001457;G/A missense_variant False AKAP9@p.E734K 1 0.315789474 ENSG00000127914 chr7:92002117-92002117;G/A missense_variant False AKAP9@p.E774K 1 0.147727273 ENSG00000127914 chr7:92002237-92002237;G/A missense_variant False AKAP9@p.E940Tfs*6 1 0.206896552 ENSG00000127914 chr7:92002734-92002735;AG/- frameshift_variant False AKAP9@p.F3571L 1 0.4 ENSG00000127914 chr7:92098142-92098142;C/A missense_variant False AKAP9@p.H1936Y 1 0.266666667 ENSG00000127914 chr7:92061368-92061368;C/T missense_variant False AKAP9@p.H2915P 1 0.431578947 ENSG00000127914 chr7:92084665-92084665;A/C missense_variant False AKAP9@p.H3040D 1 0.175257732 ENSG00000127914 chr7:92086249-92086249;C/G missense_variant False AKAP9@p.I3671M 1 0.114503817 ENSG00000127914 chr7:92100900-92100900;C/G missense_variant False AKAP9@p.L214S 1 0.384615385 ENSG00000127914 chr7:91994685-91994685;T/C missense_variant False AKAP9@p.L2810R 1 0.410526316 ENSG00000127914 chr7:92083366-92083366;T/G missense_variant False AKAP9@p.L301S 1 0.228571429 ENSG00000127914 chr7:91995772-91995772;T/C missense_variant False AKNAD1@p.E101Q 1 0.229166667 ENSG00000162641 chr1:108852364-108852364;C/G missense_variant False AKNAD1@p.E745D 1 0.128712871 ENSG00000162641 chr1:108820559-108820559;C/A missense_variant False AL121899.2@p.D599N 1 0.14159292 None chr20:2335211-2335211;G/A missense_variant False AKT1S1@p.E145K 1 0.396946565 ENSG00000204673 chr19:49871836-49871836;C/T missense_variant False AKT3@p.D395N 1 0.134831461 ENSG00000117020 chr1:243545578-243545578;C/T missense_variant False AKT3@p.D280H 1 0.235294118 ENSG00000117020 chr1:243563830-243563830;C/G missense_variant False AKT2@p.K181N 1 0.071428571 ENSG00000105221 chr19:40241968-40241968;C/A missense_variant False AKT2@p.G460D 1 0.418181818 ENSG00000105221 chr19:40233939-40233939;C/T missense_variant False AKT2@p.E323K 1 0.230769231 ENSG00000105221 chr19:40236098-40236098;C/T missense_variant False AKT2@p.D399N 1 0.17 ENSG00000105221 chr19:40235331-40235331;C/T missense_variant False AKT1@p.G334W 1 0.186440678 ENSG00000142208 chr14:104773050-104773050;C/A missense_variant True AKR1E2@p.Q259H 1 0.185185185 ENSG00000165568 chr10:4842444-4842444;G/T missense_variant False AKT1@p.E132K 1 0.392156863 ENSG00000142208 chr14:104775693-104775693;C/T missense_variant True AKT1@p.E116K 1 0.533980583 ENSG00000142208 chr14:104775741-104775741;C/T missense_variant True AKR7L@p.E292Q 1 0.146067416 ENSG00000211454 chr1:19267419-19267419;C/G missense_variant False AKR7A3@p.F223Lfs*20 1 0.470588235 ENSG00000162482 chr1:19284723-19284724;AG/- frameshift_variant False AKR7A2@p.E258K 1 0.295918367 ENSG00000053371 chr1:19307018-19307018;C/T missense_variant False AKR7A2@p.E210K 1 0.507462687 ENSG00000053371 chr1:19307374-19307374;C/T missense_variant False AKT3@p.E97K 1 0.391304348 ENSG00000117020 chr1:243646033-243646033;C/T missense_variant False AKT3@p.Q43E 1 0.115384615 ENSG00000117020 chr1:243695636-243695636;G/C missense_variant False AKT3@p.S34L 1 0.4 ENSG00000117020 chr1:243695662-243695662;G/A missense_variant False AKTIP@p.R223H 1 0.411764706 ENSG00000166971 chr16:53494180-53494180;C/T missense_variant False AL031681.2@p.T1043I 1 0.701492537 None chr20:43540983-43540983;C/T missense_variant False AL031777.2@p.A114P 1 0.255319149 None chr6:26198904-26198904;C/G missense_variant False AL031777.2@p.E122K 1 0.106870229 None chr6:26198880-26198880;C/T missense_variant False AL031777.2@p.E122Q 1 0.133928571 None chr6:26198880-26198880;C/G missense_variant False AL031777.2@p.E92Q 1 0.240310078 None chr6:26198970-26198970;C/G missense_variant False AL031777.2@p.R82Q 1 0.124031008 None chr6:26198999-26198999;C/T missense_variant False AL035460.1@p.P19S 1 0.049450549 None chr20:2815239-2815239;C/T missense_variant False AL035461.3@p.D877H 1 0.307692308 None chr20:6015421-6015421;G/C missense_variant False AL121758.1@p.A81D 1 0.166666667 None chr20:648899-648899;G/T missense_variant False AL121845.3@p.L220V 1 0.428571429 None chr20:63738265-63738265;C/G missense_variant False AL121899.2@p.A169T 1 0.192307692 None chr20:2311037-2311037;G/A missense_variant False AL121899.2@p.A33T 1 0.19047619 None chr20:2309689-2309689;G/A missense_variant False AL121899.2@p.D225N 1 0.243589744 None chr20:2312973-2312973;G/A missense_variant False AKR1E2@p.R129G 1 0.217948718 ENSG00000165568 chr10:4835735-4835735;C/G missense_variant False AKR1E2@p.L181F 1 0.142857143 ENSG00000165568 chr10:4837542-4837542;G/C missense_variant False AKNAD1@p.E788K 1 0.333333333 ENSG00000162641 chr1:108817065-108817065;C/T missense_variant False AKR1B15@p.P260A 1 0.272727273 ENSG00000227471 chr7:134576383-134576383;C/G missense_variant False AKR1C1@p.R258H 1 0.184782609 ENSG00000187134 chr10:4972676-4972676;G/A missense_variant False AKR1C1@p.D78H 1 0.390070922 ENSG00000187134 chr10:4966061-4966061;G/C missense_variant False AKR1B1@p.E85K 1 0.225 ENSG00000085662 chr7:134450884-134450884;C/T missense_variant False AKR1B1@p.E85D 1 0.166666667 ENSG00000085662 chr7:134450882-134450882;C/G missense_variant False AKR1B15@p.R246K 1 0.1 ENSG00000227471 chr7:134575921-134575921;G/A missense_variant False AKR1B15@p.R114I 1 0.413461538 ENSG00000227471 chr7:134569435-134569435;G/T missense_variant False AKR1B15@p.I265V 1 0.31147541 ENSG00000227471 chr7:134576398-134576398;A/G missense_variant False AKR1E2@p.H317Q 1 0.216216216 ENSG00000165568 chr10:4847518-4847518;C/A missense_variant False AKR1B15@p.E113D 1 0.233333333 ENSG00000227471 chr7:134569433-134569433;G/C missense_variant False AKR1A1@p.E142K 1 0.205882353 ENSG00000117448 chr1:45568049-45568049;G/A missense_variant False AKNAD1@p.V709F 1 0.154929577 ENSG00000162641 chr1:108823412-108823412;C/A missense_variant False AKNAD1@p.K274N 1 0.136363636 ENSG00000162641 chr1:108851843-108851843;C/G missense_variant False AKNAD1@p.I625M 1 0.134020619 ENSG00000162641 chr1:108827266-108827266;G/C missense_variant False AKNAD1@p.G40S 1 0.126126126 ENSG00000162641 chr1:108852547-108852547;C/T missense_variant False AKR1C2@p.D143N 1 0.235294118 ENSG00000151632 chr10:4999220-4999220;C/T missense_variant False AKR1C2@p.S3L 1 0.515151515 ENSG00000151632 chr10:5003828-5003828;G/A missense_variant False AKR1C3@p.F80L 1 0.3828125 ENSG00000196139 chr10:5096565-5096565;C/G missense_variant False AKR1C3@p.I163V 1 0.12987013 ENSG00000196139 chr10:5099366-5099366;A/G missense_variant False AKR1C3@p.S83L 1 0.103448276 ENSG00000196139 chr10:5096573-5096573;C/T missense_variant False AKR1C4@p.I163F 1 0.071428571 ENSG00000198610 chr10:5206314-5206314;A/T missense_variant False AKR1C4@p.P17A 1 0.309734513 ENSG00000198610 chr10:5196916-5196916;C/G missense_variant False AKR1C4@p.R301K 1 0.204545455 ENSG00000198610 chr10:5216766-5216766;G/A missense_variant False AKR1C4@p.V234L 1 0.482758621 ENSG00000198610 chr10:5213013-5213013;G/C missense_variant False AKR1C8P@p.D30H 1 0.476190476 None chr10:5185017-5185017;C/G missense_variant False AKR1D1@p.C157R 1 0.089552239 ENSG00000122787 chr7:138105319-138105319;T/C missense_variant False AKR1D1@p.D112Y 1 0.346666667 ENSG00000122787 chr7:138091840-138091840;G/T missense_variant False AKR1D1@p.D298G 1 0.386363636 ENSG00000122787 chr7:138113727-138113727;A/G missense_variant False AKR1D1@p.G128R 1 0.247787611 ENSG00000122787 chr7:138097869-138097869;G/A missense_variant False AKR1D1@p.G75E 1 0.214285714 ENSG00000122787 chr7:138088731-138088731;G/A missense_variant False AKR1D1@p.L277V 1 0.083969466 ENSG00000122787 chr7:138107554-138107554;C/G missense_variant False AKR1E2@p.G185R 1 0.352941176 ENSG00000165568 chr10:4837552-4837552;G/A missense_variant False ANKMY1@p.E146_Q148del 1 0.333333333 ENSG00000144504 chr2:240529277-240529285;TCCTGTCCC/- inframe_deletion False ANKMY2@p.A54V 1 0.393939394 ENSG00000106524 chr7:16627150-16627150;G/A missense_variant False AHCTF1@p.Q427H 1 0.279411765 ENSG00000153207 chr1:246900411-246900411;C/G missense_variant False AQR@p.E930K 1 0.236842105 ENSG00000021776 chr15:34886555-34886555;C/T missense_variant False AQR@p.R1342T 1 0.46875 ENSG00000021776 chr15:34862871-34862871;C/G missense_variant False AQR@p.Q1136E 1 0.431578947 ENSG00000021776 chr15:34874696-34874696;G/C missense_variant False AQR@p.P391S 1 0.285714286 ENSG00000021776 chr15:34920382-34920382;G/A missense_variant False AQR@p.L421F 1 0.268292683 ENSG00000021776 chr15:34918337-34918337;C/A missense_variant False AQR@p.L377R 1 0.275 ENSG00000021776 chr15:34920423-34920423;A/C missense_variant False AQR@p.I840M 1 0.176870748 ENSG00000021776 chr15:34893714-34893714;G/C missense_variant False AQR@p.E873K 1 0.386363636 ENSG00000021776 chr15:34890279-34890279;C/T missense_variant False AR@p.E682V 1 0.105263158 ENSG00000169083 chrX:67711561-67711561;A/T missense_variant True AQR@p.E780K 1 0.198275862 ENSG00000021776 chr15:34897611-34897611;C/T missense_variant False AQR@p.E552K 1 0.291428571 ENSG00000021776 chr15:34910144-34910144;C/T missense_variant False AQR@p.D872H 1 0.320197044 ENSG00000021776 chr15:34890282-34890282;C/G missense_variant False AQP9@p.M170I 1 0.170731707 ENSG00000103569 chr15:58179142-58179142;G/C missense_variant False AQP9@p.I196M 1 0.260869565 ENSG00000103569 chr15:58179220-58179220;C/G missense_variant False AQP9@p.G116E 1 0.169902913 ENSG00000103569 chr15:58173176-58173176;G/A missense_variant False AQR@p.R474C 1 0.385964912 ENSG00000021776 chr15:34915102-34915102;G/A missense_variant False AR@p.M788I 1 0.267857143 ENSG00000169083 chrX:67721878-67721878;G/C missense_variant True ARG1@p.E38D 1 0.451612903 ENSG00000118520 chr6:131576719-131576719;G/T missense_variant False ARAP2@p.A367T 1 0.538461538 ENSG00000047365 chr4:36212430-36212430;C/T missense_variant False ARAP2@p.S890C 1 0.166666667 ENSG00000047365 chr4:36158813-36158813;G/C missense_variant False ARAP2@p.S580L 1 0.2 ENSG00000047365 chr4:36177945-36177945;G/A missense_variant False ARAP2@p.Q1251H 1 0.238938053 ENSG00000047365 chr4:36121320-36121320;C/G missense_variant False ARAP2@p.I11V 1 0.192307692 ENSG00000047365 chr4:36229456-36229456;T/C missense_variant False ARAP2@p.E959Q 1 0.330143541 ENSG00000047365 chr4:36150922-36150922;C/G missense_variant False ARAP2@p.D1016Y 1 0.520833333 ENSG00000047365 chr4:36147701-36147701;C/A missense_variant False ARAP1@p.V263L 1 0.626984127 ENSG00000186635 chr11:72712529-72712529;C/A missense_variant False AR@p.S293A 1 0.473684211 ENSG00000169083 chrX:67546023-67546023;T/G missense_variant True ARAP1@p.R90C 1 0.222222222 ENSG00000186635 chr11:72726861-72726861;G/A missense_variant False ARAP1@p.P742L 1 0.274368231 ENSG00000186635 chr11:72701726-72701726;G/A missense_variant False ARAP1@p.I563M 1 0.192307692 ENSG00000186635 chr11:72707209-72707209;G/C missense_variant False ARAP1@p.F452L 1 0.712643678 ENSG00000186635 chr11:72710445-72710445;G/C missense_variant False ARAF@p.V218I 1 0.2 ENSG00000078061 chrX:47566733-47566733;G/A missense_variant False ARAF@p.E13K 1 0.5 ENSG00000078061 chrX:47563004-47563004;G/A missense_variant False AQP8@p.T82M 1 0.637254902 ENSG00000103375 chr16:25217430-25217430;C/T missense_variant False AQP7@p.V152L 1 0.203389831 ENSG00000165269 chr9:33386148-33386148;C/G missense_variant False AQP7@p.P313_S318del 1 0.123076923 ENSG00000165269 chr9:33385080-33385097;AGAGACGGGGGTGAGGGG/- inframe_deletion False AQP10@p.S110F 1 0.228723404 ENSG00000143595 chr1:154323078-154323078;C/T missense_variant False AQP2@p.C75F 1 0.2 ENSG00000167580 chr12:49951054-49951054;G/T missense_variant False AQP1@p.S123L 1 0.4 ENSG00000240583 chr7:30912277-30912277;C/T missense_variant False AQP1@p.D185Y 1 0.06010929 ENSG00000240583 chr7:30922567-30922567;G/T missense_variant False AQP11@p.S222L 1 0.405797101 ENSG00000178301 chr11:77603601-77603601;C/T missense_variant False AQP11@p.H147Y 1 0.364705882 ENSG00000178301 chr11:77590431-77590431;C/T missense_variant False AQP11@p.D162N 1 0.307017544 ENSG00000178301 chr11:77590476-77590476;G/A missense_variant False AQP10@p.R181W 1 0.201923077 ENSG00000143595 chr1:154323640-154323640;C/T missense_variant False AQP7@p.M337V 1 0.085574572 ENSG00000165269 chr9:33385025-33385025;T/C missense_variant False APTX@p.R247Q 1 0.460869565 ENSG00000137074 chr9:32984661-32984661;C/T missense_variant False APTX@p.P271S 1 0.402985075 ENSG00000137074 chr9:32974521-32974521;G/A missense_variant False APRT@p.R87Q 1 0.295454545 ENSG00000198931 chr16:88810484-88810484;C/T missense_variant False APPL2@p.S488Y 1 0.476190476 ENSG00000136044 chr12:105188444-105188444;G/T missense_variant False APPL2@p.S256F 1 0.583333333 ENSG00000136044 chr12:105199469-105199469;G/A missense_variant False APPL2@p.Q392H 1 0.25 ENSG00000136044 chr12:105195326-105195326;C/G missense_variant False AQP2@p.D245N 1 0.136363636 ENSG00000167580 chr12:49955525-49955525;G/A missense_variant False AQP2@p.F17L 1 0.181818182 ENSG00000167580 chr12:49950881-49950881;C/G missense_variant False AQP2@p.G64R 1 0.454545455 ENSG00000167580 chr12:49951020-49951020;G/A missense_variant False AQP3@p.V47A 1 0.275862069 ENSG00000165272 chr9:33443861-33443861;A/G missense_variant False AQP4@p.D305H 1 0.127753304 ENSG00000171885 chr18:26856270-26856270;C/G missense_variant False AQP4@p.D314Y 1 0.440191388 ENSG00000171885 chr18:26856243-26856243;C/A missense_variant False AQP4@p.G129E 1 0.24 ENSG00000171885 chr18:26862243-26862243;C/T missense_variant False AQP4@p.K274R 1 0.038674033 ENSG00000171885 chr18:26856362-26856362;T/C missense_variant False AQP4@p.P254L 1 0.248322148 ENSG00000171885 chr18:26856422-26856422;G/A missense_variant False AQP5@p.P227L 1 0.41509434 ENSG00000161798 chr12:49965059-49965059;C/T missense_variant False AQP5@p.S37L 1 0.282051282 ENSG00000161798 chr12:49962127-49962127;C/T missense_variant False AQP5@p.V14M 1 0.317460317 ENSG00000161798 chr12:49962057-49962057;G/A missense_variant False AQP6@p.A88D 1 0.363636364 ENSG00000086159 chr12:49973436-49973436;C/A missense_variant False AQP6@p.F62L 1 0.222222222 ENSG00000086159 chr12:49973359-49973359;C/G missense_variant False AQP6@p.G251S 1 0.192307692 ENSG00000086159 chr12:49975573-49975573;G/A missense_variant False AQP6@p.T141Nfs*174 1 0.390070922 ENSG00000086159 chr12:49974340-49974341;-/A frameshift_variant False AQP7@p.L60V 1 0.171428571 ENSG00000165269 chr9:33387059-33387059;G/C missense_variant False ARAP2@p.V606M 1 0.313253012 ENSG00000047365 chr4:36177868-36177868;C/T missense_variant False ARAP3@p.R701W 1 0.316666667 ENSG00000120318 chr5:141670518-141670518;G/A missense_variant False ARAP3@p.R985C 1 0.191176471 ENSG00000120318 chr5:141662103-141662103;G/A missense_variant False ARFGEF1@p.V1377M 1 0.2 ENSG00000066777 chr8:67224982-67224982;C/T missense_variant False ARFGEF2@p.E1396K 1 0.354166667 ENSG00000124198 chr20:49016286-49016286;G/A missense_variant False ARFGEF2@p.E1357Q 1 0.402985075 ENSG00000124198 chr20:49013850-49013850;G/C missense_variant False ARFGEF2@p.D743Y 1 0.185185185 ENSG00000124198 chr20:48985564-48985564;G/T missense_variant False ARFGEF2@p.D1592H 1 0.133333333 ENSG00000124198 chr20:49025331-49025331;G/C missense_variant False ARFGEF2@p.D1100Y 1 0.167785235 ENSG00000124198 chr20:48998371-48998371;G/T missense_variant False ARFGEF1@p.V826A 1 0.456140351 ENSG00000066777 chr8:67257781-67257781;A/G missense_variant False ARFGEF1@p.S1070Lfs*25 1 0.222222222 ENSG00000066777 chr8:67238423-67238423;G/- frameshift_variant False ARFGEF1@p.E362K 1 0.65060241 ENSG00000066777 chr8:67277401-67277401;C/T missense_variant False ARFGEF1@p.R1691I 1 0.074626866 ENSG00000066777 chr8:67203139-67203139;C/A missense_variant False ARFGEF1@p.R1074Q 1 0.333333333 ENSG00000066777 chr8:67238411-67238411;C/T missense_variant False ARFGEF1@p.Q933E 1 0.134615385 ENSG00000066777 chr8:67251352-67251352;G/C missense_variant False ARFGEF1@p.Q917H 1 0.117647059 ENSG00000066777 chr8:67251398-67251398;C/G missense_variant False ARFGEF1@p.Q1666E 1 0.044776119 ENSG00000066777 chr8:67203215-67203215;G/C missense_variant False ARFGEF1@p.I134M 1 0.347826087 ENSG00000066777 chr8:67299266-67299266;T/C missense_variant False ARFGEF2@p.E1655Q 1 0.2 ENSG00000124198 chr20:49028568-49028568;G/C missense_variant False ARFGEF2@p.E594K 1 0.272727273 ENSG00000124198 chr20:48976021-48976021;G/A missense_variant False ARFGEF2@p.E64Q 1 0.254491018 ENSG00000124198 chr20:48941901-48941901;G/C missense_variant False ARFGEF2@p.E813K 1 0.040816327 ENSG00000124198 chr20:48988566-48988566;G/A missense_variant False ARFGEF2@p.Q1543H 1 0.085714286 ENSG00000124198 chr20:49023055-49023055;G/T missense_variant False ARFGEF2@p.R611K 1 0.125 ENSG00000124198 chr20:48976073-48976073;G/A missense_variant False ARFGEF2@p.S569C 1 0.135135135 ENSG00000124198 chr20:48974806-48974806;C/G missense_variant False ARFGEF2@p.T882I 1 0.204545455 ENSG00000124198 chr20:48989396-48989396;C/T missense_variant False ARFGEF2@p.W1489C 1 0.102564103 ENSG00000124198 chr20:49017508-49017508;G/T missense_variant False ARFGEF3@p.D581N 1 0.057471264 ENSG00000112379 chr6:138263224-138263224;G/A missense_variant False ARFGEF3@p.E1019Q 1 0.210526316 ENSG00000112379 chr6:138291740-138291740;G/C missense_variant False ARFGEF3@p.E1634Q 1 0.272727273 ENSG00000112379 chr6:138324053-138324053;G/C missense_variant False ARFGEF3@p.L660V 1 0.55 ENSG00000112379 chr6:138263461-138263461;C/G missense_variant False ARFGEF3@p.S291L 1 0.068493151 ENSG00000112379 chr6:138255537-138255537;C/T missense_variant False ARFIP1@p.R87Q 1 0.2 ENSG00000164144 chr4:152870810-152870810;G/A missense_variant False ARFIP2@p.I281M 1 0.419354839 ENSG00000132254 chr11:6477745-6477745;G/C missense_variant False ARFRP1@p.E178K 1 0.234567901 ENSG00000101246 chr20:63700517-63700517;C/T missense_variant False ARFGEF1@p.H1283R 1 0.495495495 ENSG00000066777 chr8:67227205-67227205;T/C missense_variant False ARFGEF1@p.E24K 1 0.151515152 ENSG00000066777 chr8:67343218-67343218;C/T missense_variant False ARAP3@p.S106Wfs*38 1 0.11827957 ENSG00000120318 chr5:141680170-141680171;CT/- frameshift_variant False ARCN1@p.E280Q 1 0.692307692 ENSG00000095139 chr11:118590360-118590360;G/C missense_variant False AREL1@p.G764A 1 0.697841727 ENSG00000119682 chr14:74663977-74663977;C/G missense_variant False AREL1@p.F495V 1 0.474576271 ENSG00000119682 chr14:74671423-74671423;A/C missense_variant False AREL1@p.E685K 1 0.1875 ENSG00000119682 chr14:74667369-74667369;C/T missense_variant False AREG@p.E86K 1 0.35359116 ENSG00000109321 chr4:74446728-74446728;G/A missense_variant False AREG@p.D82N 1 0.153061224 ENSG00000109321 chr4:74446716-74446716;G/A missense_variant False ARCN1@p.S259Y 1 0.108108108 ENSG00000095139 chr11:118584602-118584602;C/A missense_variant False ARCN1@p.E140K 1 0.225806452 ENSG00000095139 chr11:118583329-118583329;G/A missense_variant False ARFGEF1@p.D1740H 1 0.348484848 ENSG00000066777 chr8:67201516-67201516;C/G missense_variant False ARCN1@p.D114H 1 0.303030303 ENSG00000095139 chr11:118583251-118583251;G/C missense_variant False ARCN1@p.A15T 1 0.107142857 ENSG00000095139 chr11:118581285-118581285;G/A missense_variant False ARC@p.V388M 1 0.5 ENSG00000198576 chr8:142613110-142613110;C/T missense_variant False ARC@p.E320D 1 0.104166667 ENSG00000198576 chr8:142613312-142613312;C/A missense_variant False ARAP3@p.S1365F 1 0.152380952 ENSG00000120318 chr5:141655637-141655637;G/A missense_variant False ARAP3@p.S1365C 1 0.117647059 ENSG00000120318 chr5:141655637-141655637;G/C missense_variant False AREL1@p.H216Y 1 0.184931507 ENSG00000119682 chr14:74676588-74676588;G/A missense_variant False AREL1@p.H454R 1 0.273584906 ENSG00000119682 chr14:74672892-74672892;T/C missense_variant False AREL1@p.P359S 1 0.079646018 ENSG00000119682 chr14:74675704-74675704;G/A missense_variant False AREL1@p.S339C 1 0.274774775 ENSG00000119682 chr14:74675763-74675763;G/C missense_variant False ARF4@p.T140I 1 0.634615385 ENSG00000168374 chr3:57575585-57575585;G/A missense_variant False ARF5@p.K109M 1 0.192982456 ENSG00000004059 chr7:127590133-127590133;A/T missense_variant False ARF6@p.K26N 1 0.2 ENSG00000165527 chr14:49893814-49893814;G/C missense_variant False ARFGAP1@p.E165Q 1 0.050632911 ENSG00000101199 chr20:63278166-63278166;G/C missense_variant False ARFGAP1@p.E196Q 1 0.733333333 ENSG00000101199 chr20:63278954-63278954;G/C missense_variant False ARFGAP1@p.Q31E 1 0.349514563 ENSG00000101199 chr20:63276121-63276121;C/G missense_variant False ARFGAP1@p.R341H 1 0.227272727 ENSG00000101199 chr20:63287674-63287674;G/A missense_variant False ARFGAP2@p.G495S 1 0.084033613 ENSG00000149182 chr11:47166330-47166330;C/T missense_variant False ARFGAP2@p.P21A 1 0.163636364 ENSG00000149182 chr11:47176793-47176793;G/C missense_variant False ARFGAP3@p.K419N 1 0.269230769 ENSG00000242247 chr22:42808830-42808830;C/A missense_variant False ARFGAP3@p.P480S 1 0.107843137 ENSG00000242247 chr22:42799134-42799134;G/A missense_variant False ARFGAP3@p.S211C 1 0.208333333 ENSG00000242247 chr22:42823696-42823696;G/C missense_variant False ARFGAP3@p.S266C 1 0.617647059 ENSG00000242247 chr22:42822285-42822285;G/C missense_variant False APPL2@p.K573N 1 0.476923077 ENSG00000136044 chr12:105176969-105176969;C/G missense_variant False APPL2@p.G206E 1 0.220588235 ENSG00000136044 chr12:105207065-105207065;C/T missense_variant False APPL1@p.V398I 1 0.375 ENSG00000157500 chr3:57256996-57256996;G/A missense_variant False APOA4@p.L175V 1 0.480620155 ENSG00000110244 chr11:116821535-116821535;G/C missense_variant False APOB@p.A990T 1 0.392857143 ENSG00000084674 chr2:21019754-21019754;C/T missense_variant False APOA5@p.H356N 1 0.488888889 ENSG00000110243 chr11:116790163-116790163;G/T missense_variant False APOA5@p.H353Y 1 0.375 ENSG00000110243 chr11:116790172-116790172;G/A missense_variant False APOA5@p.E208Q 1 0.37037037 ENSG00000110243 chr11:116790607-116790607;C/G missense_variant False APOA5@p.E101Rfs*3 1 0.390625 ENSG00000110243 chr11:116790928-116790928;C/- frameshift_variant False APOA4@p.T144I 1 0.228571429 ENSG00000110244 chr11:116821627-116821627;G/A missense_variant False APOA2@p.R22W 1 0.084848485 ENSG00000158874 chr1:161223039-161223039;G/A missense_variant False APLP2@p.E416K 1 0.227272727 ENSG00000084234 chr11:130127790-130127790;G/A missense_variant False APOA2@p.E60K 1 0.143589744 ENSG00000158874 chr1:161222925-161222925;C/T missense_variant False APOA1@p.V35L 1 0.168539326 ENSG00000118137 chr11:116837098-116837098;C/G missense_variant False APOA1@p.A18V 1 0.172413793 ENSG00000118137 chr11:116837148-116837148;G/A missense_variant False APMAP@p.L365_F373del 1 0.12195122 ENSG00000101474 chr20:24963944-24963970;GGAAGGCACCGCTGTCGCTGAGTTCTA/- inframe_deletion False APMAP@p.E390K 1 0.083333333 ENSG00000101474 chr20:24963896-24963896;C/T missense_variant False APLP2@p.R569P 1 0.612903226 ENSG00000084234 chr11:130135584-130135584;G/C missense_variant False APOB@p.D2203H 1 0.292682927 ENSG00000084674 chr2:21010261-21010261;C/G missense_variant False APOB@p.D2993H 1 0.322580645 ENSG00000084674 chr2:21007891-21007891;C/G missense_variant False APOB@p.D3319N 1 0.101449275 ENSG00000084674 chr2:21006913-21006913;C/T missense_variant False APOB@p.D3340H 1 0.168067227 ENSG00000084674 chr2:21006850-21006850;C/G missense_variant False APOB@p.D3907N 1 0.251428571 ENSG00000084674 chr2:21005149-21005149;C/T missense_variant False APOB@p.E1085K 1 0.294117647 ENSG00000084674 chr2:21016518-21016518;C/T missense_variant False APOB@p.E1175Q 1 0.0875 ENSG00000084674 chr2:21015246-21015246;C/G missense_variant False APOB@p.E2079K 1 0.216981132 ENSG00000084674 chr2:21010633-21010633;C/T missense_variant False APOB@p.E2798Q 1 0.06122449 ENSG00000084674 chr2:21008476-21008476;C/G missense_variant False APOB@p.E3888Q 1 0.080645161 ENSG00000084674 chr2:21005206-21005206;C/G missense_variant False APOB@p.E698Q 1 0.176470588 ENSG00000084674 chr2:21026940-21026940;C/G missense_variant False APOB@p.E747Q 1 0.253521127 ENSG00000084674 chr2:21026793-21026793;C/G missense_variant False APOB@p.G3105A 1 0.230769231 ENSG00000084674 chr2:21007554-21007554;C/G missense_variant False APOB@p.G3475A 1 0.340909091 ENSG00000084674 chr2:21006444-21006444;C/G missense_variant False APOB@p.I1630M 1 0.451612903 ENSG00000084674 chr2:21011978-21011978;G/C missense_variant False APOB@p.I2325F 1 0.165137615 ENSG00000084674 chr2:21009895-21009895;T/A missense_variant False APOB@p.I3492F 1 0.176470588 ENSG00000084674 chr2:21006394-21006394;T/A missense_variant False APLP2@p.L187V 1 0.270642202 ENSG00000084234 chr11:130121656-130121656;C/G missense_variant False APLP2@p.E222K 1 0.265957447 ENSG00000084234 chr11:130121761-130121761;G/A missense_variant False APOB@p.K2148N 1 0.056603774 ENSG00000084674 chr2:21010424-21010424;C/A missense_variant False APEX2@p.A318T 1 0.342105263 ENSG00000169188 chrX:55006830-55006830;G/A missense_variant False API5@p.L395F 1 0.142857143 ENSG00000166181 chr11:43330020-43330020;C/T missense_variant False API5@p.L193V 1 0.093023256 ENSG00000166181 chr11:43323463-43323463;C/G missense_variant False API5@p.H351Y 1 0.222222222 ENSG00000166181 chr11:43328817-43328817;C/T missense_variant False APH1B@p.Y158C 1 0.31292517 ENSG00000138613 chr15:63287541-63287541;A/G missense_variant False APH1A@p.V59M 1 0.357142857 ENSG00000117362 chr1:150268066-150268066;C/T missense_variant False APH1A@p.I230M 1 0.11627907 ENSG00000117362 chr1:150266576-150266576;G/C missense_variant False APEX1@p.S164L 1 0.40625 ENSG00000100823 chr14:20457042-20457042;C/T missense_variant False APLP2@p.D656Y 1 0.28125 ENSG00000084234 chr11:130141504-130141504;G/T missense_variant False APEH@p.S618F 1 0.127906977 ENSG00000164062 chr3:49682706-49682706;C/T missense_variant False APEH@p.E473Q 1 0.491803279 ENSG00000164062 chr3:49681218-49681218;G/C missense_variant False APEH@p.D189N 1 0.120689655 ENSG00000164062 chr3:49676178-49676178;G/A missense_variant False APCS@p.K26Rfs*14 1 0.137254902 ENSG00000132703 chr1:159588109-159588109;G/- frameshift_variant False APCS@p.E210Q 1 0.131578947 ENSG00000132703 chr1:159588664-159588664;G/C missense_variant False APCS@p.D37H 1 0.082352941 ENSG00000132703 chr1:159588145-159588145;G/C missense_variant False API5@p.S437N 1 0.34375 ENSG00000166181 chr11:43335309-43335309;G/A missense_variant False APIP@p.E165K 1 0.589473684 ENSG00000149089 chr11:34883473-34883473;C/T missense_variant False APIP@p.G240A 1 0.452830189 ENSG00000149089 chr11:34882727-34882727;C/G missense_variant False APIP@p.R67Q 1 0.130434783 ENSG00000149089 chr11:34890511-34890511;C/T missense_variant False APLF@p.E299Q 1 0.4 ENSG00000169621 chr2:68537962-68537962;G/C missense_variant False APLF@p.E346Q 1 0.115384615 ENSG00000169621 chr2:68538103-68538103;G/C missense_variant False APLF@p.E473K 1 0.762711864 ENSG00000169621 chr2:68577903-68577903;G/A missense_variant False APLF@p.Q231E 1 0.13559322 ENSG00000169621 chr2:68526129-68526129;C/G missense_variant False APLN@p.R68C 1 0.428571429 ENSG00000171388 chrX:129648658-129648658;G/A missense_variant False APLP1@p.A534E 1 0.188235294 ENSG00000105290 chr19:35878605-35878605;C/A missense_variant False APLP1@p.E407K 1 0.517241379 ENSG00000105290 chr19:35874744-35874744;G/A missense_variant False APLP1@p.G367S 1 0.068181818 ENSG00000105290 chr19:35874546-35874546;G/A missense_variant False APLP1@p.I613M 1 0.28125 ENSG00000105290 chr19:35879199-35879199;C/G missense_variant False APLP1@p.R203H 1 0.432432432 ENSG00000105290 chr19:35871682-35871682;G/A missense_variant False APLP1@p.R236K 1 0.18 ENSG00000105290 chr19:35871893-35871893;G/A missense_variant False APLP1@p.R605S 1 0.178807947 ENSG00000105290 chr19:35879173-35879173;C/A missense_variant False APLP2@p.D466N 1 0.630136986 ENSG00000084234 chr11:130129147-130129147;G/A missense_variant False APOB@p.K1099N 1 0.447368421 ENSG00000084674 chr2:21016474-21016474;C/G missense_variant False APOB@p.K3682N 1 0.137931034 ENSG00000084674 chr2:21005822-21005822;C/G missense_variant False APPL1@p.P74S 1 0.09375 ENSG00000157500 chr3:57238051-57238051;C/T missense_variant False APOL2@p.M268L 1 0.3625 ENSG00000128335 chr22:36227616-36227616;T/G missense_variant False APOL5@p.S170L 1 0.081081081 ENSG00000128313 chr22:35726577-35726577;C/T missense_variant False APOL5@p.R367P 1 0.144927536 ENSG00000128313 chr22:35727168-35727168;G/C missense_variant False APOL3@p.L281V 1 0.258426966 ENSG00000128284 chr22:36141568-36141568;G/C missense_variant False APOL2@p.S127F 1 0.1875 ENSG00000128335 chr22:36228038-36228038;G/A missense_variant False APOL2@p.R259T 1 0.090163934 ENSG00000128335 chr22:36227642-36227642;C/G missense_variant False APOL2@p.Q79R 1 0.248322148 ENSG00000128335 chr22:36228182-36228182;T/C missense_variant False APOL2@p.L82F 1 0.224299065 ENSG00000128335 chr22:36228172-36228172;C/G missense_variant False APOC4@p.D106H 1 0.217391304 ENSG00000267467 chr19:44945237-44945237;G/C missense_variant False APOL1@p.S300L 1 0.109589041 ENSG00000100342 chr22:36265735-36265735;C/T missense_variant False APOL1@p.M124I 1 0.234042553 ENSG00000100342 chr22:36265208-36265208;G/A missense_variant False APOL1@p.L220F 1 0.127388535 ENSG00000100342 chr22:36265496-36265496;G/C missense_variant False APOH@p.G242C 1 0.043010753 ENSG00000091583 chr17:66216848-66216848;C/A missense_variant False APOF@p.K209N 1 0.138888889 ENSG00000175336 chr12:56361579-56361579;C/G missense_variant False APOE@p.M86I 1 0.2 ENSG00000130203 chr19:44908554-44908554;G/A missense_variant False APOL5@p.S379L 1 0.304347826 ENSG00000128313 chr22:35728732-35728732;C/T missense_variant False APOL6@p.L174V 1 0.1625 ENSG00000221963 chr22:35659084-35659084;C/G missense_variant False APOLD1@p.I211M 1 0.071428571 ENSG00000178878 chr12:12787445-12787445;C/G missense_variant False APOLD1@p.K229T 1 0.416 ENSG00000178878 chr12:12787498-12787498;A/C missense_variant False APOLD1@p.R188S 1 0.125 ENSG00000178878 chr12:12787376-12787376;G/T missense_variant False APOO@p.C78Y 1 0.057591623 ENSG00000184831 chrX:23878919-23878919;C/T missense_variant False APP@p.E183Q 1 0.092307692 ENSG00000142192 chr21:26051115-26051115;C/G missense_variant False APP@p.E192Q 1 0.5 ENSG00000142192 chr21:26051088-26051088;C/G missense_variant False APP@p.E556K 1 0.315789474 ENSG00000142192 chr21:25954611-25954611;C/T missense_variant False APP@p.F319L 1 0.421052632 ENSG00000142192 chr21:26000091-26000091;G/T missense_variant False APP@p.M541I 1 0.2 ENSG00000142192 chr21:25954654-25954654;C/T missense_variant False APPBP2@p.E11K 1 0.275862069 ENSG00000062725 chr17:60525901-60525901;C/T missense_variant False APPBP2@p.E261Q 1 0.097560976 ENSG00000062725 chr17:60462043-60462043;C/G missense_variant False APPL1@p.C341Y 1 0.152380952 ENSG00000157500 chr3:57249518-57249518;G/A missense_variant False APPL1@p.D348N 1 0.120689655 ENSG00000157500 chr3:57249538-57249538;G/A missense_variant False APPL1@p.F210L 1 0.19047619 ENSG00000157500 chr3:57247403-57247403;C/G missense_variant False APPL1@p.M247T 1 0.217391304 ENSG00000157500 chr3:57248228-57248228;T/C missense_variant False APOE@p.H317Y 1 0.338709677 ENSG00000130203 chr19:44909245-44909245;C/T missense_variant False APOC3@p.K41N 1 0.368421053 ENSG00000110245 chr11:116830840-116830840;G/C missense_variant False APOB@p.L177Vfs*30 1 0.357615894 ENSG00000084674 chr2:21037967-21037968;-/A frameshift_variant False APOB@p.T248S 1 0.285714286 ENSG00000084674 chr2:21035660-21035660;T/A missense_variant False APOBEC3C@p.S93Y 1 0.19047619 ENSG00000244509 chr22:39017869-39017869;C/A missense_variant False APOBEC3C@p.L116I 1 0.305555556 ENSG00000244509 chr22:39017937-39017937;C/A missense_variant False APOBEC3B@p.S109C 1 0.118421053 ENSG00000179750 chr22:38985963-38985963;C/G missense_variant False APOBEC2@p.L147V 1 0.476190476 ENSG00000124701 chr6:41061635-41061635;C/G missense_variant False APOBEC2@p.E93K 1 0.19047619 ENSG00000124701 chr6:41061473-41061473;G/A missense_variant False APOBEC1@p.L32I 1 0.287234043 ENSG00000111701 chr12:7652786-7652786;G/T missense_variant False APOB@p.S3495C 1 0.137931034 ENSG00000084674 chr2:21006384-21006384;G/C missense_variant False APOC1@p.E77D 1 0.083333333 ENSG00000130208 chr19:44919209-44919209;G/C missense_variant False APOB@p.R4496T 1 0.226415094 ENSG00000084674 chr2:21001935-21001935;C/G missense_variant False APOB@p.R233C 1 0.419354839 ENSG00000084674 chr2:21035705-21035705;G/A missense_variant False APOB@p.Q4372E 1 0.076923077 ENSG00000084674 chr2:21002308-21002308;G/C missense_variant False APOB@p.N3180S 1 0.45 ENSG00000084674 chr2:21007329-21007329;T/C missense_variant False APOB@p.L4081H 1 0.100490196 ENSG00000084674 chr2:21003180-21003180;A/T missense_variant False APOB@p.L3576I 1 0.849315068 ENSG00000084674 chr2:21006142-21006142;G/T missense_variant False APOBEC3D@p.E76K 1 0.263157895 ENSG00000243811 chr22:39025085-39025085;G/A missense_variant False APOBEC3F@p.K83N 1 0.4 ENSG00000128394 chr22:39045018-39045018;G/C missense_variant False APOBEC3G@p.F298L 1 0.12037037 ENSG00000239713 chr22:39086437-39086437;C/A missense_variant False APOBEC3H@p.D100N 1 0.375 ENSG00000100298 chr22:39101384-39101384;G/A missense_variant False APOBEC3H@p.H54R 1 0.16 ENSG00000100298 chr22:39101247-39101247;A/G missense_variant False APOBEC3H@p.S87F 1 0.13559322 ENSG00000100298 chr22:39101346-39101346;C/T missense_variant False APOBEC4@p.D27N 1 0.3 ENSG00000173627 chr1:183648703-183648703;C/T missense_variant False APOBEC4@p.E100Q 1 0.078651685 ENSG00000173627 chr1:183648484-183648484;C/G missense_variant False APOBEC4@p.E259Q 1 0.102803738 ENSG00000173627 chr1:183648007-183648007;C/G missense_variant False APOBEC4@p.E359K 1 0.120603015 ENSG00000173627 chr1:183647707-183647707;C/T missense_variant False APOBEC4@p.K366N 1 0.154471545 ENSG00000173627 chr1:183647684-183647684;C/G missense_variant False APOBEC4@p.R171H 1 0.205479452 ENSG00000173627 chr1:183648270-183648270;C/T missense_variant False APOBEC4@p.R218T 1 0.378947368 ENSG00000173627 chr1:183648129-183648129;C/G missense_variant False APOBR@p.E788K 1 0.411764706 ENSG00000184730 chr16:28497430-28497430;G/A missense_variant False APOBR@p.E927Q 1 0.388888889 ENSG00000184730 chr16:28497847-28497847;G/C missense_variant False APOBR@p.K459N 1 0.107142857 ENSG00000184730 chr16:28496445-28496445;G/C missense_variant False APOBR@p.R813K 1 0.257142857 ENSG00000184730 chr16:28497506-28497506;G/A missense_variant False ARFRP1@p.L4V 1 0.428571429 ENSG00000101246 chr20:63707082-63707082;G/C missense_variant False ARG1@p.F15L 1 0.35 ENSG00000118520 chr6:131573327-131573327;C/G missense_variant False APCDD1L@p.P236H 1 0.1484375 ENSG00000198768 chr20:58467140-58467140;G/T missense_variant False ARHGAP44@p.E100D 1 0.292682927 ENSG00000006740 chr17:12915924-12915924;G/C missense_variant False ARHGAP45@p.E881K 1 0.733333333 ENSG00000180448 chr19:1082963-1082963;G/A missense_variant False ARHGAP45@p.E820K 1 0.5 ENSG00000180448 chr19:1081902-1081902;G/A missense_variant False ARHGAP45@p.E279K 1 0.377777778 ENSG00000180448 chr19:1074148-1074148;G/A missense_variant False ARHGAP44@p.S769Afs*16 1 0.152542373 ENSG00000006740 chr17:12984894-12984894;A/- frameshift_variant False ARHGAP44@p.Q136E 1 0.291666667 ENSG00000006740 chr17:12919773-12919773;C/G missense_variant False ARHGAP44@p.P626L 1 0.7 ENSG00000006740 chr17:12980171-12980171;C/T missense_variant False ARHGAP39@p.W722C 1 0.276595745 ENSG00000147799 chr8:144545604-144545604;C/G missense_variant False ARHGAP45@p.F221L 1 0.409090909 ENSG00000180448 chr19:1073686-1073686;C/A missense_variant False ARHGAP39@p.S532N 1 0.375 ENSG00000147799 chr8:144547491-144547491;C/T missense_variant False ARHGAP39@p.S302Y 1 0.372881356 ENSG00000147799 chr8:144548181-144548181;G/T missense_variant False ARHGAP39@p.R900T 1 0.12605042 ENSG00000147799 chr8:144533222-144533222;C/G missense_variant False ARHGAP39@p.R803H 1 0.088 ENSG00000147799 chr8:144545362-144545362;C/T missense_variant False ARHGAP39@p.E221K 1 0.392405063 ENSG00000147799 chr8:144548425-144548425;C/T missense_variant False ARHGAP36@p.S490G 1 0.692307692 ENSG00000147256 chrX:131086647-131086647;A/G missense_variant False ARHGAP45@p.F1100L 1 0.450704225 ENSG00000180448 chr19:1085895-1085895;C/G missense_variant False ARHGAP45@p.G181C 1 0.244186047 ENSG00000180448 chr19:1073268-1073268;G/T missense_variant False ARG2@p.E306K 1 0.736111111 ENSG00000081181 chr14:67650771-67650771;G/A missense_variant False ARHGAP5@p.H91Y 1 0.071428571 ENSG00000100852 chr14:32090940-32090940;C/T missense_variant False ARHGAP6@p.A225V 1 0.474576271 ENSG00000047648 chrX:11254622-11254622;G/A missense_variant False ARHGAP5@p.R118H 1 0.208333333 ENSG00000100852 chr14:32091022-32091022;G/A missense_variant False ARHGAP5@p.Q960E 1 0.545454545 ENSG00000100852 chr14:32093547-32093547;C/G missense_variant False ARHGAP5@p.L405Afs*3 1 0.352459016 ENSG00000100852 chr14:32091882-32091885;CTGA/- frameshift_variant False ARHGAP5@p.L353V 1 0.087378641 ENSG00000100852 chr14:32091726-32091726;C/G missense_variant False ARHGAP5@p.K425N 1 0.395833333 ENSG00000100852 chr14:32091944-32091944;G/C missense_variant False ARHGAP5@p.E48G 1 0.353846154 ENSG00000100852 chr14:32090812-32090812;A/G missense_variant False ARHGAP45@p.S825L 1 0.411764706 ENSG00000180448 chr19:1081918-1081918;C/T missense_variant False ARHGAP5@p.E1453K 1 0.702702703 ENSG00000100852 chr14:32154796-32154796;G/A missense_variant False ARHGAP5@p.D537N 1 0.517241379 ENSG00000100852 chr14:32092278-32092278;G/A missense_variant False ARHGAP5@p.A784T 1 0.384615385 ENSG00000100852 chr14:32093019-32093019;G/A missense_variant False ARHGAP4@p.R492H 1 0.1625 ENSG00000089820 chrX:153912767-153912767;C/T missense_variant False ARHGAP4@p.P99R 1 0.1875 ENSG00000089820 chrX:153921504-153921504;G/C missense_variant False ARHGAP4@p.K381N 1 0.277777778 ENSG00000089820 chrX:153913592-153913592;C/G missense_variant False ARHGAP36@p.R483L 1 0.616438356 ENSG00000147256 chrX:131086627-131086627;G/T missense_variant False ARHGAP36@p.K390I 1 0.053030303 ENSG00000147256 chrX:131085977-131085977;A/T missense_variant False ARHGAP35@p.V754Ffs*2 1 0.184210526 ENSG00000160007 chr19:46920933-46920933;A/- frameshift_variant False ARHGAP33@p.P730L 1 0.336363636 ENSG00000004777 chr19:35787237-35787237;C/T missense_variant False ARHGAP35@p.D624Efs*4 1 0.4 ENSG00000160007 chr19:46920547-46920547;C/- frameshift_variant False ARHGAP35@p.D1349N 1 0.333333333 ENSG00000160007 chr19:46999312-46999312;G/A missense_variant False ARHGAP33@p.S982F 1 0.25 ENSG00000004777 chr19:35787993-35787993;C/T missense_variant False ARHGAP33@p.S1118F 1 0.461538462 ENSG00000004777 chr19:35788401-35788401;C/T missense_variant False ARHGAP33@p.S1026C 1 0.506666667 ENSG00000004777 chr19:35788125-35788125;C/G missense_variant False ARHGAP33@p.S1022C 1 0.225806452 ENSG00000004777 chr19:35788113-35788113;C/G missense_variant False ARHGAP33@p.P1040T 1 0.192982456 ENSG00000004777 chr19:35788166-35788166;C/A missense_variant False ARHGAP35@p.S22C 1 0.163793103 ENSG00000160007 chr19:46918740-46918740;C/G missense_variant False ARHGAP33@p.L912V 1 0.466666667 ENSG00000004777 chr19:35787782-35787782;C/G missense_variant False ARHGAP33@p.L177H 1 0.097560976 ENSG00000004777 chr19:35780239-35780239;T/A missense_variant False ARHGAP33@p.G885E 1 0.547619048 ENSG00000004777 chr19:35787702-35787702;G/A missense_variant False ARHGAP33@p.E477K 1 0.209302326 ENSG00000004777 chr19:35784179-35784179;G/A missense_variant False ARHGAP33@p.E340K 1 0.423076923 ENSG00000004777 chr19:35781185-35781185;G/A missense_variant False ARHGAP32@p.S201Y 1 0.227272727 ENSG00000134909 chr11:129066756-129066756;G/T missense_variant False ARHGAP35@p.E1291Q 1 0.58974359 ENSG00000160007 chr19:46988033-46988033;G/C missense_variant False ARHGAP35@p.E462Q 1 0.327586207 ENSG00000160007 chr19:46920059-46920059;G/C missense_variant False ARHGAP35@p.E491Q 1 0.357142857 ENSG00000160007 chr19:46920146-46920146;G/C missense_variant False ARHGAP35@p.G169D 1 0.441176471 ENSG00000160007 chr19:46919181-46919181;G/A missense_variant False ARHGAP35@p.G827R 1 0.428571429 ENSG00000160007 chr19:46921154-46921154;G/A missense_variant False ARHGAP35@p.H549D 1 0.412935323 ENSG00000160007 chr19:46920320-46920320;C/G missense_variant False ARHGAP35@p.I1237M 1 0.375 ENSG00000160007 chr19:46937293-46937293;C/G missense_variant False ARHGAP35@p.I325M 1 0.363636364 ENSG00000160007 chr19:46919650-46919650;C/G missense_variant False ARHGAP35@p.K625R 1 0.138888889 ENSG00000160007 chr19:46920549-46920549;A/G missense_variant False ARHGAP35@p.K6Cfs*40 1 0.094117647 ENSG00000160007 chr19:46918685-46918692;GCAAGAAA/- frameshift_variant False ARHGAP35@p.P647L 1 0.113636364 ENSG00000160007 chr19:46920615-46920615;C/T missense_variant False ARHGAP35@p.Q177E 1 0.24137931 ENSG00000160007 chr19:46919204-46919204;C/G missense_variant False ARHGAP35@p.R1120W 1 0.117647059 ENSG00000160007 chr19:46922033-46922033;C/T missense_variant False ARHGAP35@p.R580W 1 0.539473684 ENSG00000160007 chr19:46920413-46920413;C/T missense_variant False ARHGAP35@p.R597T 1 0.392473118 ENSG00000160007 chr19:46920465-46920465;G/C missense_variant False ARHGAP35@p.R847T 1 0.433121019 ENSG00000160007 chr19:46921215-46921215;G/C missense_variant False ARHGAP35@p.S1377F 1 0.266666667 ENSG00000160007 chr19:46999397-46999397;C/T missense_variant False ARHGAP6@p.D464Y 1 0.221556886 ENSG00000047648 chrX:11179392-11179392;C/A missense_variant False ARHGAP6@p.G911A 1 0.730769231 ENSG00000047648 chrX:11139056-11139056;C/G missense_variant False ARHGAP6@p.N404S 1 0.559808612 ENSG00000047648 chrX:11186298-11186298;T/C missense_variant False ARHGEF12@p.T418A 1 0.057142857 ENSG00000196914 chr11:120442152-120442152;A/G missense_variant False ARHGEF15@p.S748F 1 0.272727273 ENSG00000198844 chr17:8319368-8319368;C/T missense_variant False ARHGEF15@p.S655L 1 0.105113636 ENSG00000198844 chr17:8318841-8318841;C/T missense_variant False ARHGEF15@p.R392G 1 0.347826087 ENSG00000198844 chr17:8315191-8315191;C/G missense_variant False ARHGEF15@p.R392C 1 0.35 ENSG00000198844 chr17:8315191-8315191;C/T missense_variant False ARHGEF15@p.I752M 1 0.395833333 ENSG00000198844 chr17:8319381-8319381;C/G missense_variant False ARHGEF12@p.V92F 1 0.25 ENSG00000196914 chr11:120420827-120420827;G/T missense_variant False ARHGEF12@p.S175C 1 0.106060606 ENSG00000196914 chr11:120428186-120428186;C/G missense_variant False ARHGEF12@p.E458K 1 0.469387755 ENSG00000196914 chr11:120446429-120446429;G/A missense_variant False ARHGEF12@p.R1032T 1 0.295454545 ENSG00000196914 chr11:120474621-120474621;G/C missense_variant False ARHGEF12@p.Q902E 1 0.333333333 ENSG00000196914 chr11:120465327-120465327;C/G missense_variant False ARHGEF12@p.P576A 1 0.477272727 ENSG00000196914 chr11:120448337-120448337;C/G missense_variant False ARHGEF12@p.K315Q 1 0.319148936 ENSG00000196914 chr11:120437326-120437326;A/C missense_variant False ARHGEF12@p.I115M 1 0.176470588 ENSG00000196914 chr11:120421849-120421849;C/G missense_variant False ARHGEF12@p.G1318R 1 0.142857143 ENSG00000196914 chr11:120480145-120480145;G/A missense_variant False ARHGEF16@p.E309K 1 0.056179775 ENSG00000130762 chr1:3469496-3469496;G/A missense_variant False ARHGEF16@p.E560Q 1 0.092592593 ENSG00000130762 chr1:3478476-3478476;G/C missense_variant False ARHGEF16@p.G506A 1 0.350649351 ENSG00000130762 chr1:3477918-3477918;G/C missense_variant False ARHGEF16@p.L293F 1 0.371428571 ENSG00000130762 chr1:3469448-3469448;C/T missense_variant False ARHGEF16@p.S418F 1 0.129411765 ENSG00000130762 chr1:3473470-3473470;C/T missense_variant False ARHGEF17@p.D1204N 1 0.221428571 ENSG00000110237 chr11:73355900-73355900;G/A missense_variant False ARHGEF17@p.D278E 1 0.210526316 ENSG00000110237 chr11:73309472-73309472;C/G missense_variant False ARHGEF17@p.D610N 1 0.174603175 ENSG00000110237 chr11:73310466-73310466;G/A missense_variant False ARHGEF17@p.D736N 1 0.194805195 ENSG00000110237 chr11:73310844-73310844;G/A missense_variant False ARHGEF17@p.F1985L 1 0.307692308 ENSG00000110237 chr11:73365907-73365907;C/A missense_variant False ARHGEF17@p.G835R 1 0.111111111 ENSG00000110237 chr11:73311141-73311141;G/A missense_variant False ARHGEF17@p.L1308V 1 0.117647059 ENSG00000110237 chr11:73357055-73357055;C/G missense_variant False ARHGEF17@p.L1599F 1 0.142857143 ENSG00000110237 chr11:73362533-73362533;C/T missense_variant False ARHGEF17@p.R2051Q 1 0.14159292 ENSG00000110237 chr11:73367740-73367740;G/A missense_variant False ARHGEF17@p.S1257T 1 0.357142857 ENSG00000110237 chr11:73356281-73356281;G/C missense_variant False ARHGEF18@p.D394H 1 0.197530864 ENSG00000104880 chr19:7453517-7453517;G/C missense_variant False ARHGEF18@p.D531N 1 0.142857143 ENSG00000104880 chr19:7458647-7458647;G/A missense_variant False ARHGEF12@p.G107E 1 0.202614379 ENSG00000196914 chr11:120421824-120421824;G/A missense_variant False ARHGEF12@p.D712H 1 0.292929293 ENSG00000196914 chr11:120457195-120457195;G/C missense_variant False ARHGAP6@p.S344L 1 0.333333333 ENSG00000047648 chrX:11188774-11188774;G/A missense_variant False ARHGAP9@p.G575D 1 0.356725146 ENSG00000123329 chr12:57474688-57474688;C/T missense_variant False ARHGEF10@p.G998E 1 0.152173913 ENSG00000104728 chr8:1928647-1928647;G/A missense_variant False ARHGEF10@p.E83K 1 0.111111111 ENSG00000104728 chr8:1858097-1858097;G/A missense_variant False ARHGDIA@p.R120Q 1 0.460674157 ENSG00000141522 chr17:81869229-81869229;C/T missense_variant False ARHGDIA@p.E154K 1 0.3125 ENSG00000141522 chr17:81869031-81869031;C/T missense_variant False ARHGAP9@p.Y82F 1 0.283783784 ENSG00000123329 chr12:57479162-57479162;T/A missense_variant False ARHGAP9@p.P286L 1 0.328125 ENSG00000123329 chr12:57477169-57477169;G/A missense_variant False ARHGAP9@p.G337E 1 0.322580645 ENSG00000123329 chr12:57476605-57476605;C/T missense_variant False ARHGEF12@p.D1055N 1 0.278688525 ENSG00000196914 chr11:120475393-120475393;G/A missense_variant False ARHGAP9@p.F359V 1 0.456521739 ENSG00000123329 chr12:57476405-57476405;A/C missense_variant False ARHGAP9@p.D618N 1 0.297297297 ENSG00000123329 chr12:57474165-57474165;C/T missense_variant False ARHGAP9@p.D602N 1 0.292682927 ENSG00000123329 chr12:57474459-57474459;C/T missense_variant False ARHGAP9@p.D217H 1 0.293333333 ENSG00000123329 chr12:57477566-57477566;C/G missense_variant False ARHGAP9@p.A32V 1 0.5 ENSG00000123329 chr12:57479312-57479312;G/A missense_variant False ARHGAP6@p.T972M 1 0.875 ENSG00000047648 chrX:11138873-11138873;G/A missense_variant False ARHGEF10@p.H930R 1 0.086956522 ENSG00000104728 chr8:1928443-1928443;A/G missense_variant False ARHGEF10@p.L1297V 1 0.086206897 ENSG00000104728 chr8:1957042-1957042;C/G missense_variant False ARHGEF10L@p.A216T 1 0.191860465 ENSG00000074964 chr1:17613094-17613094;G/A missense_variant False ARHGEF10L@p.I574M 1 0.141176471 ENSG00000074964 chr1:17632458-17632458;C/G missense_variant False ARHGEF10L@p.R1094W 1 0.206349206 ENSG00000074964 chr1:17695253-17695253;C/T missense_variant False ARHGEF10L@p.R951W 1 0.466666667 ENSG00000074964 chr1:17656699-17656699;C/T missense_variant False ARHGEF10L@p.S805I 1 0.438485804 ENSG00000074964 chr1:17654655-17654655;G/T missense_variant False ARHGEF11@p.D297H 1 0.129032258 ENSG00000132694 chr1:156963549-156963549;C/G missense_variant False ARHGEF11@p.E1339Q 1 0.382716049 ENSG00000132694 chr1:156938475-156938475;C/G missense_variant False ARHGEF11@p.E1470K 1 0.093333333 ENSG00000132694 chr1:156936918-156936918;C/T missense_variant False ARHGEF11@p.G1330V 1 0.048780488 ENSG00000132694 chr1:156938501-156938501;C/A missense_variant False ARHGEF11@p.K531N 1 0.426666667 ENSG00000132694 chr1:156955758-156955758;C/A missense_variant False ARHGEF11@p.L169V 1 0.269230769 ENSG00000132694 chr1:156978209-156978209;G/C missense_variant False ARHGEF11@p.L615P 1 0.547169811 ENSG00000132694 chr1:156948460-156948460;A/G missense_variant False ARHGEF11@p.P1097Qfs*16 1 0.146341463 ENSG00000132694 chr1:156941906-156941906;G/- frameshift_variant False ARHGEF11@p.S1015F 1 0.105263158 ENSG00000132694 chr1:156944006-156944006;G/A missense_variant False ARHGEF11@p.T1108Hfs*5 1 0.098591549 ENSG00000132694 chr1:156941874-156941874;T/- frameshift_variant False ARHGAP32@p.S2002C 1 0.279411765 ENSG00000134909 chr11:128969167-128969167;T/A missense_variant False ARHGAP32@p.R190Q 1 0.408163265 ENSG00000134909 chr11:129066789-129066789;C/T missense_variant False ARHGAP32@p.P324S 1 0.230769231 ENSG00000134909 chr11:129040961-129040961;G/A missense_variant False ARHGAP20@p.E251D 1 0.177777778 ENSG00000137727 chr11:110609006-110609006;T/G missense_variant False ARHGAP20@p.P293R 1 0.348837209 ENSG00000137727 chr11:110606647-110606647;G/C missense_variant False ARHGAP20@p.M151I 1 0.28125 ENSG00000137727 chr11:110624212-110624212;C/A missense_variant False ARHGAP20@p.I1064K 1 0.371212121 ENSG00000137727 chr11:110579755-110579755;A/T missense_variant False ARHGAP20@p.G862Efs*42 1 0.32967033 ENSG00000137727 chr11:110580361-110580361;C/- frameshift_variant False ARHGAP20@p.E881Q 1 0.141463415 ENSG00000137727 chr11:110580305-110580305;C/G missense_variant False ARHGAP20@p.E251Q 1 0.136612022 ENSG00000137727 chr11:110609008-110609008;C/G missense_variant False ARHGAP20@p.E239Q 1 0.289855072 ENSG00000137727 chr11:110609044-110609044;C/G missense_variant False ARHGAP19@p.E189K 1 0.248979592 ENSG00000213390 chr10:97263468-97263468;C/T missense_variant False ARHGAP20@p.E1062D 1 0.300970874 ENSG00000137727 chr11:110579760-110579760;C/G missense_variant False ARHGAP20@p.D1181N 1 0.151898734 ENSG00000137727 chr11:110579405-110579405;C/T missense_variant False ARHGAP19@p.S468C 1 0.269230769 ENSG00000213390 chr10:97229218-97229218;G/C missense_variant False ARHGAP19@p.S31C 1 0.051020408 ENSG00000213390 chr10:97266090-97266090;G/C missense_variant False ARHGAP19@p.Q435K 1 0.594594595 ENSG00000213390 chr10:97229856-97229856;G/T missense_variant False ARHGAP19@p.H381Y 1 0.240506329 ENSG00000213390 chr10:97244012-97244012;G/A missense_variant False ARHGAP20@p.S1029C 1 0.164556962 ENSG00000137727 chr11:110579860-110579860;G/C missense_variant False ARHGAP20@p.S1153Y 1 0.158878505 ENSG00000137727 chr11:110579488-110579488;G/T missense_variant False ARHGAP20@p.S19Ffs*36 1 0.288888889 ENSG00000137727 chr11:110712176-110712176;G/AA frameshift_variant False ARHGAP20@p.S20C 1 0.466666667 ENSG00000137727 chr11:110712173-110712173;G/C missense_variant False ARHGAP21@p.D1767H 1 0.172727273 ENSG00000107863 chr10:24584990-24584990;C/G missense_variant False ARHGAP21@p.E1436K 1 0.353658537 ENSG00000107863 chr10:24585983-24585983;C/T missense_variant False ARHGAP21@p.E1570K 1 0.45 ENSG00000107863 chr10:24585581-24585581;C/T missense_variant False ARHGAP21@p.E986Q 1 0.252525253 ENSG00000107863 chr10:24600822-24600822;C/G missense_variant False ARHGAP21@p.N192K 1 0.352941176 ENSG00000107863 chr10:24621319-24621319;A/C missense_variant False ARHGAP21@p.R1751K 1 0.221590909 ENSG00000107863 chr10:24585037-24585037;C/T missense_variant False ARHGAP21@p.R1859C 1 0.19 ENSG00000107863 chr10:24584714-24584714;G/A missense_variant False ARHGAP21@p.R977T 1 0.722727273 ENSG00000107863 chr10:24600848-24600848;C/G missense_variant False ARHGAP21@p.S581L 1 0.107142857 ENSG00000107863 chr10:24620153-24620153;G/A missense_variant False ARHGAP21@p.S74P 1 0.5 ENSG00000107863 chr10:24670241-24670241;A/G missense_variant False ARHGAP22@p.E268G 1 0.22826087 ENSG00000128805 chr10:48454151-48454151;T/C missense_variant False ARHGAP22@p.Q56K 1 0.379310345 ENSG00000128805 chr10:48583021-48583021;G/T missense_variant False ARHGAP22@p.S659F 1 0.236363636 ENSG00000128805 chr10:48446512-48446512;G/A missense_variant False ARHGAP19@p.E461Q 1 0.230769231 ENSG00000213390 chr10:97229778-97229778;C/G missense_variant False ARHGAP19@p.D70N 1 0.43877551 ENSG00000213390 chr10:97265974-97265974;C/T missense_variant False ARHGAP24@p.M542I 1 0.208333333 ENSG00000138639 chr4:85995280-85995280;G/A missense_variant False ARHGAP11B@p.E150K 1 0.218390805 ENSG00000285077 chr15:30634320-30634320;G/A missense_variant False ARHGAP12@p.P12S 1 0.632183908 ENSG00000165322 chr10:31908822-31908822;G/A missense_variant False ARHGAP12@p.K60E 1 0.647058824 ENSG00000165322 chr10:31908678-31908678;T/C missense_variant False ARHGAP12@p.E189D 1 0.330097087 ENSG00000165322 chr10:31908289-31908289;C/A missense_variant False ARHGAP12@p.D369H 1 0.219512195 ENSG00000165322 chr10:31852582-31852582;C/G missense_variant False ARHGAP11B@p.L133F 1 0.195121951 ENSG00000285077 chr15:30634269-30634269;C/T missense_variant False ARHGAP11B@p.E77Q 1 0.62745098 ENSG00000285077 chr15:30633518-30633518;G/C missense_variant False ARHGAP11A@p.S527L 1 0.206349206 ENSG00000198826 chr15:32636353-32636353;C/T missense_variant False ARHGAP18@p.S133R 1 0.390625 ENSG00000146376 chr6:129638549-129638549;T/G missense_variant False ARHGAP11A@p.Q224K 1 0.426356589 ENSG00000198826 chr15:32625198-32625198;C/A missense_variant False ARHGAP11A@p.K793I 1 0.217391304 ENSG00000198826 chr15:32637151-32637151;A/T missense_variant False ARHGAP11A@p.K152N 1 0.424528302 ENSG00000198826 chr15:32624331-32624331;G/T missense_variant False ARHGAP11A@p.K1019E 1 0.375 ENSG00000198826 chr15:32637828-32637828;A/G missense_variant False ARHGAP11A@p.E504K 1 0.533333333 ENSG00000198826 chr15:32636283-32636283;G/A missense_variant False ARGLU1@p.S10F 1 0.380952381 ENSG00000134884 chr13:106567891-106567891;G/A missense_variant False ARHGAP12@p.R770I 1 0.262376238 ENSG00000165322 chr10:31808706-31808706;C/A missense_variant False ARHGAP12@p.Y801C 1 0.264150943 ENSG00000165322 chr10:31807797-31807797;T/C missense_variant False ARHGAP15@p.D48N 1 0.405063291 ENSG00000075884 chr2:143155632-143155632;G/A missense_variant False ARHGAP15@p.E203Q 1 0.222222222 ENSG00000075884 chr2:143436946-143436946;G/C missense_variant False ARHGAP15@p.E54K 1 0.23655914 ENSG00000075884 chr2:143155650-143155650;G/A missense_variant False ARHGAP15@p.F367L 1 0.490566038 ENSG00000075884 chr2:143624228-143624228;T/C missense_variant False ARHGAP15@p.S233Y 1 0.512195122 ENSG00000075884 chr2:143437037-143437037;C/A missense_variant False ARHGAP17@p.E413K 1 0.349206349 ENSG00000140750 chr16:24947486-24947486;C/T missense_variant False ARHGAP17@p.Q241E 1 0.3 ENSG00000140750 chr16:24959674-24959674;G/C missense_variant False ARHGAP17@p.R224T 1 0.085106383 ENSG00000140750 chr16:24959724-24959724;C/G missense_variant False ARHGAP17@p.R849C 1 0.39 ENSG00000140750 chr16:24920231-24920231;G/A missense_variant False ARHGAP17@p.Y327C 1 0.365853659 ENSG00000140750 chr16:24952355-24952355;T/C missense_variant False ARHGAP18@p.E418K 1 0.106060606 ENSG00000146376 chr6:129607923-129607923;C/T missense_variant False ARHGAP18@p.I53M 1 0.195488722 ENSG00000146376 chr6:129641973-129641973;G/C missense_variant False ARHGAP18@p.K659Q 1 0.508474576 ENSG00000146376 chr6:129578530-129578530;T/G missense_variant False ARHGAP18@p.L586V 1 0.681818182 ENSG00000146376 chr6:129584070-129584070;G/C missense_variant False ARHGAP18@p.Q96E 1 0.132352941 ENSG00000146376 chr6:129641846-129641846;G/C missense_variant False ARHGAP24@p.F51L 1 0.302631579 ENSG00000138639 chr4:85570694-85570694;C/G missense_variant False ARHGAP24@p.R414G 1 0.157575758 ENSG00000138639 chr4:85994894-85994894;A/G missense_variant False ARHGAP32@p.P292S 1 0.071428571 ENSG00000134909 chr11:129062327-129062327;G/A missense_variant False ARHGAP31@p.E183Q 1 0.12755102 ENSG00000031081 chr3:119383091-119383091;G/C missense_variant False ARHGAP31@p.N458K 1 0.307692308 ENSG00000031081 chr3:119402126-119402126;C/A missense_variant False ARHGAP31@p.K162N 1 0.141414141 ENSG00000031081 chr3:119382346-119382346;G/C missense_variant False ARHGAP31@p.I215M 1 0.441558442 ENSG00000031081 chr3:119383189-119383189;C/G missense_variant False ARHGAP31@p.I1057S 1 0.058823529 ENSG00000031081 chr3:119415099-119415099;T/G missense_variant False ARHGAP31@p.E668Q 1 0.320512821 ENSG00000031081 chr3:119413931-119413931;G/C missense_variant False ARHGAP31@p.E545Q 1 0.301587302 ENSG00000031081 chr3:119402385-119402385;G/C missense_variant False ARHGAP31@p.D646N 1 0.518867925 ENSG00000031081 chr3:119413865-119413865;G/A missense_variant False ARHGAP30@p.R397W 1 0.161616162 ENSG00000186517 chr1:161051545-161051545;G/A missense_variant False ARHGAP31@p.D1153H 1 0.170731707 ENSG00000031081 chr3:119415386-119415386;G/C missense_variant False ARHGAP31@p.C95W 1 0.292035398 ENSG00000031081 chr3:119368453-119368453;C/G missense_variant False ARHGAP31@p.A555E 1 0.319148936 ENSG00000031081 chr3:119409514-119409514;C/A missense_variant False ARHGAP30@p.S61P 1 0.323529412 ENSG00000186517 chr1:161059633-161059633;A/G missense_variant False ARHGAP30@p.S593F 1 0.0546875 ENSG00000186517 chr1:161049243-161049243;G/A missense_variant False ARHGAP30@p.S426C 1 0.066066066 ENSG00000186517 chr1:161051457-161051457;G/C missense_variant False ARHGAP31@p.P552A 1 0.139534884 ENSG00000031081 chr3:119409504-119409504;C/G missense_variant False ARHGAP31@p.P804Q 1 0.276595745 ENSG00000031081 chr3:119414340-119414340;C/A missense_variant False ARHGAP31@p.S1135C 1 0.52238806 ENSG00000031081 chr3:119415333-119415333;C/G missense_variant False ARHGAP31@p.S1148C 1 0.367088608 ENSG00000031081 chr3:119415372-119415372;C/G missense_variant False ARHGAP32@p.D1734N 1 0.793650794 ENSG00000134909 chr11:128969971-128969971;C/T missense_variant False ARHGAP32@p.E1184K 1 0.58 ENSG00000134909 chr11:128972914-128972914;C/T missense_variant False ARHGAP32@p.E1808K 1 0.644230769 ENSG00000134909 chr11:128969749-128969749;C/T missense_variant False ARHGAP32@p.E1969Q 1 0.18705036 ENSG00000134909 chr11:128969266-128969266;C/G missense_variant False ARHGAP32@p.E367Q 1 0.216981132 ENSG00000134909 chr11:128998373-128998373;C/G missense_variant False ARHGAP32@p.E421K 1 0.207792208 ENSG00000134909 chr11:128986664-128986664;C/T missense_variant False ARHGAP32@p.G2011V 1 0.252873563 ENSG00000134909 chr11:128969139-128969139;C/A missense_variant False ARHGAP32@p.G625E 1 0.117647059 ENSG00000134909 chr11:128980613-128980613;C/T missense_variant False ARHGAP32@p.I559N 1 0.079470199 ENSG00000134909 chr11:128981478-128981478;A/T missense_variant False ARHGAP32@p.L185V 1 0.125 ENSG00000134909 chr11:129066805-129066805;G/C missense_variant False ARHGAP32@p.L710F 1 0.45 ENSG00000134909 chr11:128976587-128976587;G/A missense_variant False ARHGAP32@p.M905I 1 0.072289157 ENSG00000134909 chr11:128974440-128974440;C/G missense_variant False ARHGAP32@p.N329S 1 0.217391304 ENSG00000134909 chr11:129040945-129040945;T/C missense_variant False ARHGAP30@p.S384C 1 0.152694611 ENSG00000186517 chr1:161051583-161051583;G/C missense_variant False ARHGAP30@p.Q662R 1 0.153409091 ENSG00000186517 chr1:161049036-161049036;T/C missense_variant False ARHGAP24@p.R499Q 1 0.495495495 ENSG00000138639 chr4:85995150-85995150;G/A missense_variant False ARHGAP26@p.S662L 1 0.19047619 ENSG00000145819 chr5:143147378-143147378;C/T missense_variant False ARHGAP27@p.Y746Ifs*26 1 0.298850575 ENSG00000159314 chr17:45396223-45396223;G/- frameshift_variant False ARHGAP27@p.Q414E 1 0.220588235 ENSG00000159314 chr17:45404932-45404932;G/C missense_variant False ARHGAP27@p.E643Q 1 0.347826087 ENSG00000159314 chr17:45396940-45396940;C/G missense_variant False ARHGAP27@p.E621Q 1 0.189873418 ENSG00000159314 chr17:45397006-45397006;C/G missense_variant False ARHGAP27@p.D460N 1 0.108108108 ENSG00000159314 chr17:45404480-45404480;C/T missense_variant False ARHGAP26@p.T21A 1 0.450980392 ENSG00000145819 chr5:142770822-142770822;A/G missense_variant False ARHGAP26@p.S434F 1 0.16744186 ENSG00000145819 chr5:143054454-143054454;C/T missense_variant False ARHGAP30@p.P104A 1 0.266666667 ENSG00000186517 chr1:161056423-161056423;G/C missense_variant False ARHGAP26@p.R585G 1 0.740740741 ENSG00000145819 chr5:143134021-143134021;C/G missense_variant False ARHGAP26@p.I547M 1 0.356521739 ENSG00000145819 chr5:143121090-143121090;C/G missense_variant False ARHGAP25@p.S23L 1 0.477443609 ENSG00000163219 chr2:68775227-68775227;C/T missense_variant False ARHGAP25@p.N459S 1 0.076923077 ENSG00000163219 chr2:68822515-68822515;A/G missense_variant False ARHGAP25@p.M346I 1 0.371794872 ENSG00000163219 chr2:68819157-68819157;G/C missense_variant False ARHGAP25@p.D405H 1 0.152542373 ENSG00000163219 chr2:68822352-68822352;G/C missense_variant False ARHGAP28@p.E682Q 1 0.25862069 ENSG00000088756 chr18:6908973-6908973;G/C missense_variant False ARHGAP28@p.I535S 1 0.465346535 ENSG00000088756 chr18:6889955-6889955;T/G missense_variant False ARHGAP28@p.I566N 1 0.328947368 ENSG00000088756 chr18:6890048-6890048;T/A missense_variant False ARHGAP28@p.S651C 1 0.153846154 ENSG00000088756 chr18:6896548-6896548;C/G missense_variant False ARHGAP29@p.D479H 1 0.262295082 ENSG00000137962 chr1:94189930-94189930;C/G missense_variant False ARHGAP29@p.D786Y 1 0.328358209 ENSG00000137962 chr1:94179849-94179849;C/A missense_variant False ARHGAP29@p.E1254K 1 0.1 ENSG00000137962 chr1:94173895-94173895;C/T missense_variant False ARHGAP29@p.E369Q 1 0.257575758 ENSG00000137962 chr1:94202582-94202582;C/G missense_variant False ARHGAP29@p.E586Q 1 0.450980392 ENSG00000137962 chr1:94186523-94186523;C/G missense_variant False ARHGAP29@p.N231* 1 0.388888889 ENSG00000137962 chr1:94205067-94205068;-/A frameshift_variant False ARHGAP29@p.Q1087E 1 0.212560386 ENSG00000137962 chr1:94174396-94174396;G/C missense_variant False ARHGAP29@p.Q19E 1 0.119266055 ENSG00000137962 chr1:94231557-94231557;G/C missense_variant False ARHGAP29@p.S1213L 1 0.284313725 ENSG00000137962 chr1:94174017-94174017;G/A missense_variant False ARHGAP29@p.S472L 1 0.141025641 ENSG00000137962 chr1:94189950-94189950;G/A missense_variant False ARHGAP30@p.G738R 1 0.139784946 ENSG00000186517 chr1:161048809-161048809;C/T missense_variant False ARHGAP30@p.H25R 1 0.119047619 ENSG00000186517 chr1:161069551-161069551;T/C missense_variant False ARHGAP30@p.L995V 1 0.304761905 ENSG00000186517 chr1:161048038-161048038;G/C missense_variant False APCS@p.D164N 1 0.245283019 ENSG00000132703 chr1:159588526-159588526;G/A missense_variant False APCDD1@p.R125W 1 0.191176471 ENSG00000154856 chr18:10471660-10471660;C/T missense_variant False ANKMY2@p.S419C 1 0.316666667 ENSG00000106524 chr7:16600831-16600831;G/C missense_variant False ANKRD52@p.P1022S 1 0.5 ENSG00000139645 chr12:56243309-56243309;G/A missense_variant False ANKRD55@p.C234R 1 0.335078534 ENSG00000164512 chr5:56127019-56127019;A/G missense_variant False ANKRD54@p.D263N 1 0.108108108 ENSG00000100124 chr22:37832678-37832678;C/T missense_variant False ANKRD54@p.D141N 1 0.289473684 ENSG00000100124 chr22:37838554-37838554;C/T missense_variant False ANKRD53@p.N255S 1 0.25 ENSG00000144031 chr2:70982082-70982082;A/G missense_variant False ANKRD52@p.R19Q 1 0.317073171 ENSG00000139645 chr12:56257883-56257883;C/T missense_variant False ANKRD52@p.Q327H 1 0.228571429 ENSG00000139645 chr12:56253726-56253726;C/G missense_variant False ANKRD52@p.L611V 1 0.273684211 ENSG00000139645 chr12:56248170-56248170;G/C missense_variant False ANKRD55@p.E604K 1 0.312977099 ENSG00000164512 chr5:56100218-56100218;C/T missense_variant False ANKRD52@p.E923K 1 0.105263158 ENSG00000139645 chr12:56244391-56244391;C/T missense_variant False ANKRD52@p.E900D 1 0.184210526 ENSG00000139645 chr12:56244674-56244674;C/G missense_variant False ANKRD52@p.E331K 1 0.183673469 ENSG00000139645 chr12:56253397-56253397;C/T missense_variant False ANKRD52@p.D415N 1 0.206896552 ENSG00000139645 chr12:56252838-56252838;C/T missense_variant False ANKRD52@p.A864P 1 0.196721311 ENSG00000139645 chr12:56244784-56244784;C/G missense_variant False ANKRD50@p.S1018F 1 0.204545455 ENSG00000151458 chr4:124670224-124670224;G/A missense_variant False ANKRD55@p.D386N 1 0.152542373 ENSG00000164512 chr5:56111592-56111592;C/T missense_variant False ANKRD55@p.G185A 1 0.407017544 ENSG00000164512 chr5:56143859-56143859;C/G missense_variant False ANO5@p.M900I 1 0.357142857 ENSG00000171714 chr11:22279723-22279723;G/C missense_variant False ANKRD6@p.E673* 1 0.4375 ENSG00000135299 chr6:89630829-89630830;-/T frameshift_variant False ANKS1A@p.E390K 1 0.081632653 ENSG00000064999 chr6:34985237-34985237;G/A missense_variant False ANKS1A@p.E1080D 1 0.347826087 ENSG00000064999 chr6:35085873-35085873;G/C missense_variant False ANKRD7@p.Y50H 1 0.130434783 ENSG00000106013 chr7:118224978-118224978;T/C missense_variant False ANKRD7@p.R15H 1 0.051470588 ENSG00000106013 chr7:118224874-118224874;G/A missense_variant False ANKRD7@p.L211I 1 0.165354331 ENSG00000106013 chr7:118236845-118236845;C/A missense_variant False ANKRD6@p.P628L 1 0.291666667 ENSG00000135299 chr6:89630703-89630703;C/T missense_variant False ANKRD6@p.E387Q 1 0.291666667 ENSG00000135299 chr6:89623998-89623998;G/C missense_variant False ANKRD55@p.L437V 1 0.178571429 ENSG00000164512 chr5:56111439-56111439;G/C missense_variant False ANKRD6@p.A603V 1 0.214285714 ENSG00000135299 chr6:89630628-89630628;C/T missense_variant False ANKRD55@p.S318F 1 0.2 ENSG00000164512 chr5:56116627-56116627;G/A missense_variant False ANKRD55@p.R564Q 1 0.342857143 ENSG00000164512 chr5:56102526-56102526;C/T missense_variant False ANKRD55@p.R367S 1 0.308550186 ENSG00000164512 chr5:56111647-56111647;C/A missense_variant False ANKRD55@p.R367M 1 0.30075188 ENSG00000164512 chr5:56111648-56111648;C/A missense_variant False ANKRD55@p.P329Lfs*119 1 0.173728814 ENSG00000164512 chr5:56111762-56111762;G/- frameshift_variant False ANKRD50@p.R250Q 1 0.222222222 ENSG00000151458 chr4:124672528-124672528;C/T missense_variant False ANKRD50@p.Q1370H 1 0.289473684 ENSG00000151458 chr4:124669167-124669167;C/G missense_variant False ANKRD50@p.L358F 1 0.32967033 ENSG00000151458 chr4:124672205-124672205;G/A missense_variant False ANKRD40@p.E341K 1 0.198113208 ENSG00000154945 chr17:50696083-50696083;C/T missense_variant False ANKRD42@p.P273A 1 0.247058824 ENSG00000137494 chr11:83227860-83227860;C/G missense_variant False ANKRD42@p.L104F 1 0.228070175 ENSG00000137494 chr11:83210363-83210363;C/T missense_variant False ANKRD42@p.H178Y 1 0.214285714 ENSG00000137494 chr11:83224884-83224884;C/T missense_variant False ANKRD40@p.N257K 1 0.272727273 ENSG00000154945 chr17:50699406-50699406;A/T missense_variant False ANKRD40@p.M229I 1 0.467213115 ENSG00000154945 chr17:50699490-50699490;C/T missense_variant False ANKRD40@p.M143I 1 0.265306122 ENSG00000154945 chr17:50699748-50699748;C/T missense_variant False ANKRD40@p.E16K 1 0.372294372 ENSG00000154945 chr17:50707609-50707609;C/T missense_variant False ANKRD50@p.K1357N 1 0.265625 ENSG00000151458 chr4:124669206-124669206;C/G missense_variant False ANKRD39@p.E139K 1 0.542553191 ENSG00000213337 chr2:96848438-96848438;C/T missense_variant False ANKRD37@p.S22L 1 0.5 ENSG00000186352 chr4:185397187-185397187;C/T missense_variant False ANKRD36B@p.N886Y 1 0.059701493 ENSG00000196912 chr2:97513329-97513329;T/A missense_variant False ANKRD36B@p.D269E 1 0.379746835 ENSG00000196912 chr2:97560723-97560723;G/C missense_variant False ANKRD36@p.N59S 1 0.532258065 ENSG00000135976 chr2:97113915-97113915;A/G missense_variant False ANKRD36@p.L116F 1 0.313043478 ENSG00000135976 chr2:97118377-97118377;C/T missense_variant False ANKRD42@p.R119Q 1 0.47107438 ENSG00000137494 chr11:83210409-83210409;G/A missense_variant False ANKRD44@p.D764N 1 0.068965517 ENSG00000065413 chr2:197005751-197005751;C/T missense_variant False ANKRD44@p.L93F 1 0.252873563 ENSG00000065413 chr2:197126020-197126020;C/G missense_variant False ANKRD44@p.M877I 1 0.231884058 ENSG00000065413 chr2:196998941-196998941;C/T missense_variant False ANKRD44@p.S308R 1 0.042056075 ENSG00000065413 chr2:197110827-197110827;A/T missense_variant False ANKRD45@p.E2V 1 0.314285714 ENSG00000285777 chr1:173659414-173659414;T/A missense_variant False ANKRD45@p.M86I 1 0.060606061 ENSG00000285777 chr1:173659161-173659161;C/T missense_variant False ANKRD46@p.D123H 1 0.244897959 ENSG00000186106 chr8:100527948-100527948;C/G missense_variant False ANKRD46@p.S10C 1 0.07826087 ENSG00000186106 chr8:100529805-100529805;G/C missense_variant False ANKRD49@p.D73Y 1 0.411347518 ENSG00000168876 chr11:94496910-94496910;G/T missense_variant False ANKRD49@p.E61G 1 0.165289256 ENSG00000168876 chr11:94496875-94496875;A/G missense_variant False ANKRD50@p.D1070N 1 0.41025641 ENSG00000151458 chr4:124670069-124670069;C/T missense_variant False ANKRD50@p.D1207H 1 0.1 ENSG00000151458 chr4:124669658-124669658;C/G missense_variant False ANKRD50@p.E1033Q 1 0.393442623 ENSG00000151458 chr4:124670180-124670180;C/G missense_variant False ANKRD50@p.E1415Q 1 0.26 ENSG00000151458 chr4:124669034-124669034;C/G missense_variant False ANKRD50@p.E963K 1 0.467741935 ENSG00000151458 chr4:124670390-124670390;C/T missense_variant False ANKRD50@p.F385I 1 0.412280702 ENSG00000151458 chr4:124672124-124672124;A/T missense_variant False ANKS1A@p.E418K 1 0.284671533 ENSG00000064999 chr6:34989266-34989266;G/A missense_variant False ANKS1A@p.E420K 1 0.254098361 ENSG00000064999 chr6:34989272-34989272;G/A missense_variant False ANKS1A@p.E616K 1 0.267045455 ENSG00000064999 chr6:35017895-35017895;G/A missense_variant False ANO1@p.E720K 1 0.357142857 ENSG00000131620 chr11:70167348-70167348;G/A missense_variant False ANO2@p.S231W 1 0.404255319 ENSG00000047617 chr12:5832536-5832536;G/C missense_variant False ANO2@p.N291K 1 0.444444444 ENSG00000047617 chr12:5827779-5827779;G/C missense_variant False ANO2@p.I67M 1 0.428571429 ENSG00000047617 chr12:5921361-5921361;G/C missense_variant False ANO2@p.E472K 1 0.176470588 ENSG00000047617 chr12:5739328-5739328;C/T missense_variant False ANO1@p.S74L 1 0.793103448 ENSG00000131620 chr11:70087864-70087864;C/T missense_variant False ANO1@p.Q698R 1 0.352941176 ENSG00000131620 chr11:70167283-70167283;A/G missense_variant False ANO1@p.E603Q 1 0.208955224 ENSG00000131620 chr11:70161648-70161648;G/C missense_variant False ANLN@p.S356F 1 0.265625 ENSG00000011426 chr7:36407927-36407927;C/T missense_variant False ANO1@p.E186K 1 0.294117647 ENSG00000131620 chr11:70104014-70104014;G/A missense_variant False ANO1@p.E186D 1 0.266666667 ENSG00000131620 chr11:70104016-70104016;G/C missense_variant False ANO1@p.A885T 1 0.222222222 ENSG00000131620 chr11:70185654-70185654;G/A missense_variant False ANO1@p.A400T 1 0.2 ENSG00000131620 chr11:70132019-70132019;G/A missense_variant False ANO10@p.V244A 1 0.090909091 ENSG00000160746 chr3:43577123-43577123;A/G missense_variant False ANO10@p.P585S 1 0.064935065 ENSG00000160746 chr3:43549764-43549764;G/A missense_variant False ANO2@p.S717C 1 0.203252033 ENSG00000047617 chr12:5599570-5599570;G/C missense_variant False ANO3@p.E84K 1 0.261904762 ENSG00000134343 chr11:26443773-26443773;G/A missense_variant False ANO3@p.R328H 1 0.466019417 ENSG00000134343 chr11:26537412-26537412;G/A missense_variant False ANO3@p.S36F 1 0.17791411 ENSG00000134343 chr11:26441978-26441978;C/T missense_variant False ANO3@p.Y655H 1 0.47826087 ENSG00000134343 chr11:26634293-26634293;T/C missense_variant False ANO4@p.A426P 1 0.290909091 ENSG00000151572 chr12:101048365-101048365;G/C missense_variant False ANO4@p.D423N 1 0.204545455 ENSG00000151572 chr12:101048356-101048356;G/A missense_variant False ANO4@p.E443G 1 0.397727273 ENSG00000151572 chr12:101079208-101079208;A/G missense_variant False ANO4@p.E467K 1 0.330188679 ENSG00000151572 chr12:101083681-101083681;G/A missense_variant False ANO4@p.E66K 1 0.259615385 ENSG00000151572 chr12:100939350-100939350;G/A missense_variant False ANO4@p.H311Y 1 0.377777778 ENSG00000151572 chr12:101039988-101039988;C/T missense_variant False ANO4@p.M704I 1 0.12195122 ENSG00000151572 chr12:101099683-101099683;G/T missense_variant False ANO4@p.N824T 1 0.373529412 ENSG00000151572 chr12:101116699-101116699;A/C missense_variant False ANO4@p.P693Hfs*12 1 0.148148148 ENSG00000151572 chr12:101099647-101099647;C/- frameshift_variant False ANO4@p.R838P 1 0.254237288 ENSG00000151572 chr12:101116741-101116741;G/C missense_variant False ANO4@p.R862C 1 0.355932203 ENSG00000151572 chr12:101120533-101120533;C/T missense_variant False ANO5@p.E431K 1 0.0625 ENSG00000171714 chr11:22255481-22255481;G/A missense_variant False ANO10@p.H289D 1 0.075 ENSG00000160746 chr3:43576989-43576989;G/C missense_variant False ANLN@p.Q470E 1 0.052631579 ENSG00000011426 chr7:36415770-36415770;C/G missense_variant False ANKS1A@p.E672K 1 0.171428571 ENSG00000064999 chr6:35054102-35054102;G/A missense_variant False ANKS1B@p.G139R 1 0.229166667 ENSG00000185046 chr12:99806658-99806658;C/T missense_variant False ANKS3@p.E630D 1 0.2 ENSG00000168096 chr16:4697337-4697337;C/G missense_variant False ANKS1B@p.T130I 1 0.314285714 ENSG00000185046 chr12:99806684-99806684;G/A missense_variant False ANKS1B@p.S778W 1 0.24 ENSG00000185046 chr12:99246288-99246288;G/C missense_variant False ANKS1B@p.S24Y 1 0.217391304 ENSG00000185046 chr12:99984167-99984167;G/T missense_variant False ANKS1B@p.R203H 1 0.5 ENSG00000185046 chr12:99806465-99806465;C/T missense_variant False ANKS1B@p.G34E 1 0.218181818 ENSG00000185046 chr12:99984137-99984137;C/T missense_variant False ANKS1A@p.S480_S482del 1 0.244897959 ENSG00000064999 chr6:35017484-35017492;AGCAGCAGC/- inframe_deletion False ANLN@p.Q357E 1 0.41509434 ENSG00000011426 chr7:36407929-36407929;C/G missense_variant False ANKS1A@p.R194Q 1 0.353535354 ENSG00000064999 chr6:34981835-34981835;G/A missense_variant False ANKS1A@p.M438I 1 0.618556701 ENSG00000064999 chr6:34994313-34994313;G/C missense_variant False ANKS1A@p.K464N 1 0.460674157 ENSG00000064999 chr6:34994391-34994391;G/C missense_variant False ANKS1A@p.H1033R 1 0.396226415 ENSG00000064999 chr6:35084224-35084224;A/G missense_variant False ANKS1A@p.G769R 1 0.145454545 ENSG00000064999 chr6:35079537-35079537;G/A missense_variant False ANKS1A@p.E680Q 1 0.131868132 ENSG00000064999 chr6:35054126-35054126;G/C missense_variant False ANKS4B@p.G390C 1 0.056910569 ENSG00000175311 chr16:21250734-21250734;G/T missense_variant False ANKS4B@p.L250F 1 0.493506494 ENSG00000175311 chr16:21250314-21250314;C/T missense_variant False ANKS4B@p.L374V 1 0.432835821 ENSG00000175311 chr16:21250686-21250686;C/G missense_variant False ANKS4B@p.T3S 1 0.177257525 ENSG00000175311 chr16:21233744-21233744;A/T missense_variant False ANKS6@p.R461P 1 0.413043478 ENSG00000165138 chr9:98778411-98778411;C/G missense_variant False ANKZF1@p.D6N 1 0.161290323 ENSG00000163516 chr2:219230273-219230273;G/A missense_variant False ANKZF1@p.F151C 1 0.111111111 ENSG00000163516 chr2:219232577-219232577;T/G missense_variant False ANKZF1@p.L166V 1 0.842105263 ENSG00000163516 chr2:219232621-219232621;C/G missense_variant False ANKZF1@p.L652F 1 0.313609467 ENSG00000163516 chr2:219235858-219235858;C/T missense_variant False ANKZF1@p.R276P 1 0.45045045 ENSG00000163516 chr2:219233722-219233722;G/C missense_variant False ANKZF1@p.S403L 1 0.136986301 ENSG00000163516 chr2:219234829-219234829;C/T missense_variant False ANLN@p.A233S 1 0.191011236 ENSG00000011426 chr7:36406390-36406390;G/T missense_variant False ANLN@p.E315K 1 0.226804124 ENSG00000011426 chr7:36407803-36407803;G/A missense_variant False ANLN@p.E76K 1 0.234042553 ENSG00000011426 chr7:36399132-36399132;G/A missense_variant False ANLN@p.H921D 1 0.177777778 ENSG00000011426 chr7:36426027-36426027;C/G missense_variant False ANLN@p.P87L 1 0.202898551 ENSG00000011426 chr7:36399166-36399166;C/T missense_variant False ANLN@p.Q1041L 1 0.158730159 ENSG00000011426 chr7:36449708-36449708;A/T missense_variant False ANKRD36@p.F21L 1 0.357954545 ENSG00000135976 chr2:97113802-97113802;C/G missense_variant False ANKRD35@p.R924Q 1 0.88372093 ENSG00000198483 chr1:145871998-145871998;C/T missense_variant False ANKRD35@p.R901C 1 0.195652174 ENSG00000198483 chr1:145872068-145872068;G/A missense_variant False ANKRD13C@p.D266A 1 0.436363636 ENSG00000118454 chr1:70300888-70300888;T/G missense_variant False ANKRD17@p.D1239H 1 0.107142857 ENSG00000132466 chr4:73121015-73121015;C/G missense_variant False ANKRD17@p.A993E 1 0.447368421 ENSG00000132466 chr4:73139638-73139638;G/T missense_variant False ANKRD16@p.E235K 1 0.181818182 ENSG00000134461 chr10:5883152-5883152;C/T missense_variant False ANKRD16@p.E122Q 1 0.109589041 ENSG00000134461 chr10:5888018-5888018;C/G missense_variant False ANKRD13C@p.R126K 1 0.517241379 ENSG00000118454 chr1:70354032-70354032;C/T missense_variant False ANKRD13C@p.D521N 1 0.326923077 ENSG00000118454 chr1:70262782-70262782;C/T missense_variant False ANKRD13B@p.L292I 1 0.16 ENSG00000198720 chr17:29610736-29610736;C/A missense_variant False ANKRD12@p.S1056L 1 0.153061224 ENSG00000101745 chr18:9256434-9256434;C/T missense_variant False ANKRD13A@p.I116Ffs*11 1 0.123076923 ENSG00000076513 chr12:110013236-110013236;A/- frameshift_variant False ANKRD13A@p.E165Q 1 0.142857143 ENSG00000076513 chr12:110018437-110018437;G/C missense_variant False ANKRD13A@p.D158N 1 0.225 ENSG00000076513 chr12:110018416-110018416;G/A missense_variant False ANKRD12@p.S1573L 1 0.392857143 ENSG00000101745 chr18:9257985-9257985;C/T missense_variant False ANKRD12@p.S1383L 1 0.195121951 ENSG00000101745 chr18:9257415-9257415;C/T missense_variant False ANKRD12@p.S1352* 1 0.138297872 ENSG00000101745 chr18:9257320-9257322;CTC/TT frameshift_variant False ANKRD17@p.D348H 1 0.130597015 ENSG00000132466 chr4:73154072-73154072;C/G missense_variant False ANKRD17@p.D611N 1 0.158536585 ENSG00000132466 chr4:73146802-73146802;C/T missense_variant False ANKRD17@p.D794N 1 0.421052632 ENSG00000132466 chr4:73140236-73140236;C/T missense_variant False ANKRD17@p.D91H 1 0.309090909 ENSG00000132466 chr4:73258398-73258398;C/G missense_variant False ANKRD17@p.E355Kfs*18 1 0.11682243 ENSG00000132466 chr4:73154021-73154051;CATTATGGTCCTCAATACTAGCACCGGATTC/- frameshift_variant False ANKRD17@p.E402Q 1 0.116883117 ENSG00000132466 chr4:73153910-73153910;C/G missense_variant False ANKRD17@p.H368Y 1 0.341935484 ENSG00000132466 chr4:73154012-73154012;G/A missense_variant False ANKRD17@p.L1965F 1 0.195054945 ENSG00000132466 chr4:73091733-73091733;T/G missense_variant False ANKRD17@p.P1918S 1 0.347826087 ENSG00000132466 chr4:73091876-73091876;G/A missense_variant False ANKRD17@p.R202W 1 0.362318841 ENSG00000132466 chr4:73161292-73161292;G/A missense_variant False ANKRD17@p.T1768A 1 0.525477707 ENSG00000132466 chr4:73094104-73094104;T/C missense_variant False ANKRD1@p.K286N 1 0.404494382 ENSG00000148677 chr10:90912968-90912968;C/A missense_variant False ANKRD20A1@p.E627Q 1 0.222222222 ENSG00000260691 chr9:67900874-67900874;G/C missense_variant False ANKRD20A1@p.E656K 1 0.37755102 ENSG00000260691 chr9:67900961-67900961;G/A missense_variant False ANKRD20A1@p.G325E 1 0.11969112 ENSG00000260691 chr9:67884565-67884565;G/A missense_variant False ANKRD20A2P@p.E755K 1 0.533333333 ENSG00000291287 chr9:40265256-40265256;G/A missense_variant False ANKRD20A4P@p.E740Q 1 0.229508197 ENSG00000172014 chr9:64411504-64411504;G/C missense_variant False ANKRD12@p.S1311R 1 0.207317073 ENSG00000101745 chr18:9257200-9257200;C/G missense_variant False ANKRD12@p.R516K 1 0.32967033 ENSG00000101745 chr18:9254814-9254814;G/A missense_variant False ANKRD20A4P@p.S409F 1 0.303370787 ENSG00000172014 chr9:64407918-64407918;C/T missense_variant False ANKRD11@p.E1474D 1 0.1 ENSG00000167522 chr16:89282120-89282120;C/G missense_variant False ANKRD11@p.K608N 1 0.509433962 ENSG00000167522 chr16:89284718-89284718;C/G missense_variant False ANKRD11@p.K1632N 1 0.075342466 ENSG00000167522 chr16:89281646-89281646;C/G missense_variant False ANKRD11@p.K1460Rfs*71 1 0.218181818 ENSG00000167522 chr16:89282165-89282168;CTTC/TTT frameshift_variant False ANKRD11@p.I2422V 1 0.4 ENSG00000167522 chr16:89279278-89279278;T/C missense_variant False ANKRD11@p.F852L 1 0.438596491 ENSG00000167522 chr16:89283986-89283986;G/C missense_variant False ANKRD11@p.E943Q 1 0.58677686 ENSG00000167522 chr16:89283715-89283715;C/G missense_variant False ANKRD11@p.E1157Q 1 0.306122449 ENSG00000167522 chr16:89283073-89283073;C/G missense_variant False ANKRD12@p.R1737T 1 0.7 ENSG00000101745 chr18:9258477-9258477;G/C missense_variant False ANKRD11@p.E1008Q 1 0.333333333 ENSG00000167522 chr16:89283520-89283520;C/G missense_variant False ANKRD11@p.D811H 1 0.382352941 ENSG00000167522 chr16:89284111-89284111;C/G missense_variant False ANKRD11@p.D1527N 1 0.212121212 ENSG00000167522 chr16:89281963-89281963;C/T missense_variant False ANKRD11@p.D1053H 1 0.62745098 ENSG00000167522 chr16:89283385-89283385;C/G missense_variant False ANKRD10@p.E343Q 1 0.085470085 ENSG00000088448 chr13:110879873-110879873;C/G missense_variant False ANKRA2@p.L146V 1 0.3 ENSG00000164331 chr5:73561142-73561142;G/C missense_variant False ANKRD11@p.N378D 1 0.351648352 ENSG00000167522 chr16:89285410-89285410;T/C missense_variant False ANKRD11@p.R1165S 1 0.233333333 ENSG00000167522 chr16:89283047-89283047;C/A missense_variant False ANKRD11@p.R1435T 1 0.388429752 ENSG00000167522 chr16:89282238-89282238;C/G missense_variant False ANKRD11@p.R1631W 1 0.32388664 ENSG00000167522 chr16:89281651-89281651;G/A missense_variant False ANKRD11@p.R465K 1 0.21875 ENSG00000167522 chr16:89285148-89285148;C/T missense_variant False ANKRD11@p.S1100Lfs*218 1 0.196969697 ENSG00000167522 chr16:89283243-89283245;GAG/AA frameshift_variant False ANKRD11@p.S1260L 1 0.216216216 ENSG00000167522 chr16:89282763-89282763;G/A missense_variant False ANKRD11@p.S1265F 1 0.492307692 ENSG00000167522 chr16:89282748-89282748;G/A missense_variant False ANKRD11@p.Y2564C 1 0.428571429 ENSG00000167522 chr16:89274836-89274836;T/C missense_variant False ANKRD12@p.D1536Y 1 0.340909091 ENSG00000101745 chr18:9257873-9257873;G/T missense_variant False ANKRD12@p.D430H 1 0.274193548 ENSG00000101745 chr18:9254555-9254555;G/C missense_variant False ANKRD12@p.D865H 1 0.192307692 ENSG00000101745 chr18:9255860-9255860;G/C missense_variant False ANKRD12@p.E2042K 1 0.380952381 ENSG00000101745 chr18:9281061-9281061;G/A missense_variant False ANKRD12@p.K1068N 1 0.141304348 ENSG00000101745 chr18:9256471-9256471;G/C missense_variant False ANKRD12@p.L558V 1 0.107692308 ENSG00000101745 chr18:9254939-9254939;C/G missense_variant False ANKRD12@p.P1482T 1 0.220779221 ENSG00000101745 chr18:9257711-9257711;C/A missense_variant False ANKRD12@p.Q1570E 1 0.05952381 ENSG00000101745 chr18:9257975-9257975;C/G missense_variant False ANKRD20A4P@p.L219V 1 0.129032258 ENSG00000172014 chr9:64378729-64378729;C/G missense_variant False ANKRD23@p.A73D 1 0.191489362 ENSG00000163126 chr2:96842142-96842142;G/T missense_variant False ANKRD35@p.P264A 1 0.315789474 ENSG00000198483 chr1:145873979-145873979;G/C missense_variant False ANKRD30A@p.D830H 1 0.6 ENSG00000148513 chr10:37189533-37189533;G/C missense_variant False ANKRD30A@p.M948I 1 0.197530864 ENSG00000148513 chr10:37201300-37201300;G/T missense_variant False ANKRD30A@p.M628K 1 0.070175439 ENSG00000148513 chr10:37158569-37158569;T/A missense_variant False ANKRD30A@p.M396V 1 0.202185792 ENSG00000148513 chr10:37142083-37142083;A/G missense_variant False ANKRD30A@p.G348E 1 0.27 ENSG00000148513 chr10:37141940-37141940;G/A missense_variant False ANKRD30A@p.F91Rfs*7 1 0.434782609 ENSG00000148513 chr10:37129942-37129949;TTTCTGGT/- frameshift_variant False ANKRD30A@p.E1084Q 1 0.205128205 ENSG00000148513 chr10:37217861-37217861;G/C missense_variant False ANKRD30A@p.D592H 1 0.238461538 ENSG00000148513 chr10:37153638-37153638;G/C missense_variant False ANKRD28@p.N663T 1 0.25 ENSG00000206560 chr3:15686093-15686093;T/G missense_variant False ANKRD2@p.R181C 1 0.233333333 ENSG00000165887 chr10:97580858-97580858;C/T missense_variant False ANKRD2@p.R127Q 1 0.12345679 ENSG00000165887 chr10:97578349-97578349;G/A missense_variant False ANKRD2@p.G345E 1 0.583333333 ENSG00000165887 chr10:97583676-97583676;G/A missense_variant False ANKRD2@p.E352Q 1 0.555555556 ENSG00000165887 chr10:97583696-97583696;G/C missense_variant False ANKRD29@p.V66I 1 0.258064516 ENSG00000154065 chr18:23646224-23646224;C/T missense_variant False ANKRD29@p.L278R 1 0.127659574 ENSG00000154065 chr18:23601299-23601299;A/C missense_variant False ANKRD30A@p.N1245I 1 0.111111111 ENSG00000148513 chr10:37219446-37219446;A/T missense_variant False ANKRD30A@p.N542Y 1 0.140625 ENSG00000148513 chr10:37149828-37149828;A/T missense_variant False ANKRD30A@p.P175S 1 0.142857143 ENSG00000148513 chr10:37132252-37132252;C/T missense_variant False ANKRD30A@p.S1254F 1 0.574257426 ENSG00000148513 chr10:37219473-37219473;C/T missense_variant False ANKRD30A@p.S640C 1 0.160220994 ENSG00000148513 chr10:37162667-37162667;C/G missense_variant False ANKRD30A@p.S684C 1 0.161290323 ENSG00000148513 chr10:37165142-37165142;C/G missense_variant False ANKRD33@p.S173C 1 0.081632653 ENSG00000167612 chr12:51890839-51890839;C/G missense_variant False ANKRD34A@p.L160V 1 0.108108108 ENSG00000272031 chr1:145961282-145961282;G/C missense_variant False ANKRD34A@p.P171S 1 0.263565891 ENSG00000272031 chr1:145961249-145961249;G/A missense_variant False ANKRD34A@p.S149L 1 0.174603175 ENSG00000272031 chr1:145961314-145961314;G/A missense_variant False ANKRD34B@p.D320N 1 0.129032258 ENSG00000189127 chr5:80559062-80559062;C/T missense_variant False ANKRD34B@p.D320Y 1 0.085714286 ENSG00000189127 chr5:80559062-80559062;C/A missense_variant False ANKRD34B@p.D345Y 1 0.415384615 ENSG00000189127 chr5:80558987-80558987;C/A missense_variant False ANKRD34B@p.D462Y 1 0.15720524 ENSG00000189127 chr5:80558636-80558636;C/A missense_variant False ANKRD34B@p.L138F 1 0.074074074 ENSG00000189127 chr5:80559608-80559608;G/A missense_variant False ANKRD35@p.L258F 1 0.148648649 ENSG00000198483 chr1:145874166-145874166;G/A missense_variant False ANKRD35@p.P156H 1 0.237410072 ENSG00000198483 chr1:145876233-145876233;G/T missense_variant False ANKRD28@p.V702I 1 0.166666667 ENSG00000206560 chr3:15685421-15685421;C/T missense_variant False ANKRD28@p.N580D 1 0.580645161 ENSG00000206560 chr3:15690154-15690154;T/C missense_variant False ANKRD23@p.E52Q 1 0.068181818 ENSG00000163126 chr2:96842385-96842385;C/G missense_variant False ANKRD26@p.D1169N 1 0.219512195 ENSG00000107890 chr10:27034945-27034945;C/T missense_variant False ANKRD26@p.K49N 1 0.294117647 ENSG00000107890 chr10:27100180-27100180;C/G missense_variant False ANKRD26@p.K1705N 1 0.127906977 ENSG00000107890 chr10:27005608-27005608;C/G missense_variant False ANKRD26@p.E547K 1 0.4375 ENSG00000107890 chr10:27048976-27048976;C/T missense_variant False ANKRD26@p.E1512Q 1 0.295454545 ENSG00000107890 chr10:27014684-27014684;C/G missense_variant False ANKRD26@p.E1205Q 1 0.284210526 ENSG00000107890 chr10:27034837-27034837;C/G missense_variant False ANKRD26@p.E1024K 1 0.262711864 ENSG00000107890 chr10:27035380-27035380;C/T missense_variant False ANKRD26@p.A294V 1 0.078125 ENSG00000107890 chr10:27077534-27077534;G/A missense_variant False ANKRD28@p.N266K 1 0.301587302 ENSG00000206560 chr3:15721023-15721023;A/T missense_variant False ANKRD26@p.A1280G 1 0.282051282 ENSG00000107890 chr10:27029325-27029325;G/C missense_variant False ANKRD24@p.R198G 1 0.153061224 ENSG00000089847 chr19:4207555-4207555;C/G missense_variant False ANKRD24@p.Q210E 1 0.2 ENSG00000089847 chr19:4207591-4207591;C/G missense_variant False ANKRD24@p.G158S 1 0.404255319 ENSG00000089847 chr19:4207247-4207247;G/A missense_variant False ANKRD23@p.V107L 1 0.176470588 ENSG00000163126 chr2:96840894-96840894;C/G missense_variant False ANKRD23@p.R284Q 1 0.363636364 ENSG00000163126 chr2:96839616-96839616;C/T missense_variant False ANKRD26@p.M1437I 1 0.235294118 ENSG00000107890 chr10:27017697-27017697;C/T missense_variant False ANKRD26@p.R43P 1 0.384057971 ENSG00000107890 chr10:27100199-27100199;C/G missense_variant False ANKRD26@p.R977Q 1 0.166666667 ENSG00000107890 chr10:27035520-27035520;C/T missense_variant False ANKRD26@p.S690L 1 0.47826087 ENSG00000107890 chr10:27043518-27043518;G/A missense_variant False ANKRD27@p.D929G 1 0.659574468 ENSG00000105186 chr19:32600032-32600032;T/C missense_variant False ANKRD27@p.E1044Q 1 0.427272727 ENSG00000105186 chr19:32598168-32598168;C/G missense_variant False ANKRD27@p.E97Q 1 0.366197183 ENSG00000105186 chr19:32646540-32646540;C/G missense_variant False ANKRD27@p.H218Y 1 0.38547486 ENSG00000105186 chr19:32643340-32643340;G/A missense_variant False ANKRD27@p.H993Y 1 0.431818182 ENSG00000105186 chr19:32598321-32598321;G/A missense_variant False ANKRD27@p.K805N 1 0.505617978 ENSG00000105186 chr19:32605913-32605913;C/G missense_variant False ANKRD27@p.L569V 1 0.447204969 ENSG00000105186 chr19:32622544-32622544;G/C missense_variant False ANKRD27@p.P722L 1 0.236220472 ENSG00000105186 chr19:32615668-32615668;G/A missense_variant False ANKRD27@p.S658L 1 0.084745763 ENSG00000105186 chr19:32619294-32619294;G/A missense_variant False ANKRD28@p.D402N 1 0.903225806 ENSG00000206560 chr3:15711254-15711254;C/T missense_variant False ANKRD28@p.E270K 1 0.091503268 ENSG00000206560 chr3:15721013-15721013;C/T missense_variant False ANKRD28@p.E805K 1 0.233009709 ENSG00000206560 chr3:15679359-15679359;C/T missense_variant False ANKRD28@p.L243V 1 0.109243697 ENSG00000206560 chr3:15721094-15721094;G/C missense_variant False ANO5@p.F191L 1 0.157894737 ENSG00000171714 chr11:22227511-22227511;C/A missense_variant False ANO5@p.R641H 1 0.536585366 ENSG00000171714 chr11:22270335-22270335;G/A missense_variant False APCDD1@p.H236D 1 0.225165563 ENSG00000154856 chr18:10471993-10471993;C/G missense_variant False AP3B2@p.K90R 1 0.363636364 ENSG00000103723 chr15:82688827-82688827;T/C missense_variant False AP3D1@p.E904K 1 0.307692308 ENSG00000065000 chr19:2111720-2111720;C/T missense_variant False AP3D1@p.D443Y 1 0.191176471 ENSG00000065000 chr19:2121016-2121016;C/A missense_variant False AP3B2@p.S850C 1 0.368421053 ENSG00000103723 chr15:82663143-82663143;G/C missense_variant False AP3B2@p.S253N 1 0.166666667 ENSG00000103723 chr15:82680850-82680850;C/T missense_variant False AP3B2@p.R654C 1 0.245614035 ENSG00000103723 chr15:82665468-82665468;G/A missense_variant False AP3B2@p.Q179H 1 0.466666667 ENSG00000103723 chr15:82681163-82681163;C/A missense_variant False AP3B2@p.I909M 1 0.888888889 ENSG00000103723 chr15:82662761-82662761;G/C missense_variant False AP3D1@p.F681L 1 0.128205128 ENSG00000065000 chr19:2116237-2116237;G/C missense_variant False AP3B2@p.F888L 1 0.482758621 ENSG00000103723 chr15:82662824-82662824;G/T missense_variant False AP3B2@p.E682K 1 0.444444444 ENSG00000103723 chr15:82664871-82664871;C/T missense_variant False AP3B1@p.S276C 1 0.117647059 ENSG00000132842 chr5:78181622-78181622;G/C missense_variant False AP3B1@p.S1066C 1 0.245614035 ENSG00000132842 chr5:78002990-78002990;G/C missense_variant False AP3B1@p.S1007C 1 0.303571429 ENSG00000132842 chr5:78015521-78015521;G/C missense_variant False AP3B1@p.R795Efs*25 1 0.303030303 ENSG00000132842 chr5:78110222-78110222;G/- frameshift_variant False AP3D1@p.F1094S 1 0.0875 ENSG00000065000 chr19:2109091-2109091;A/G missense_variant False AP3D1@p.M1146I 1 0.47761194 ENSG00000065000 chr19:2102197-2102197;C/T missense_variant False ANO5@p.R807T 1 0.268292683 ENSG00000171714 chr11:22276099-22276099;G/C missense_variant False AP3S2@p.S59F 1 0.095238095 ENSG00000157823 chr15:89888618-89888618;G/A missense_variant False AP4E1@p.E164K 1 0.333333333 ENSG00000081014 chr15:50925167-50925167;G/A missense_variant False AP4B1@p.Y225C 1 0.457627119 ENSG00000134262 chr1:113900344-113900344;T/C missense_variant False AP4B1@p.P548L 1 0.417910448 ENSG00000134262 chr1:113895906-113895906;G/A missense_variant False AP4B1@p.G5D 1 0.532544379 ENSG00000134262 chr1:113904704-113904704;C/T missense_variant False AP4B1@p.G152E 1 0.254385965 ENSG00000134262 chr1:113901769-113901769;C/T missense_variant False AP4B1@p.A581S 1 0.204545455 ENSG00000134262 chr1:113895808-113895808;C/A missense_variant False AP3S2@p.E81K 1 0.15 ENSG00000157823 chr15:89888553-89888553;C/T missense_variant False AP3D1@p.S1022F 1 0.328571429 ENSG00000065000 chr19:2110149-2110149;G/A missense_variant False AP3S2@p.E142Q 1 0.2 ENSG00000157823 chr15:89837644-89837644;C/G missense_variant False AP3S1@p.S163L 1 0.288659794 ENSG00000177879 chr5:115913396-115913396;C/T missense_variant False AP3M2@p.R258L 1 0.063559322 ENSG00000070718 chr8:42165530-42165530;G/T missense_variant False AP3M1@p.R169P 1 0.112781955 ENSG00000185009 chr10:74134104-74134104;C/G missense_variant False AP3M1@p.L113V 1 0.321428571 ENSG00000185009 chr10:74136740-74136740;A/C missense_variant False AP3M1@p.G302R 1 0.225490196 ENSG00000185009 chr10:74126255-74126255;C/G missense_variant False AP3B1@p.R1085W 1 0.438356164 ENSG00000132842 chr5:78002934-78002934;G/A missense_variant False AP3B1@p.P515L 1 0.384615385 ENSG00000132842 chr5:78141249-78141249;G/A missense_variant False AP3B1@p.K96N 1 0.238095238 ENSG00000132842 chr5:78228231-78228231;C/A missense_variant False AP1S2@p.D53H 1 0.148148148 ENSG00000182287 chrX:15852368-15852368;C/G missense_variant False AP2A2@p.N470H 1 0.15625 ENSG00000183020 chr11:992641-992641;A/C missense_variant False AP2A2@p.K305N 1 0.621621622 ENSG00000183020 chr11:985535-985535;G/C missense_variant False AP2A2@p.E798K 1 0.272727273 ENSG00000183020 chr11:1008107-1008107;G/A missense_variant False AP2A1@p.R464H 1 0.227272727 ENSG00000196961 chr19:49800086-49800086;G/A missense_variant False AP2A1@p.R399Q 1 0.379928315 ENSG00000196961 chr19:49799690-49799690;G/A missense_variant False AP2A1@p.L778V 1 0.166666667 ENSG00000196961 chr19:49803298-49803298;C/G missense_variant False AP1M2@p.S72L 1 0.358208955 ENSG00000129354 chr19:10583658-10583658;G/A missense_variant False AP3B1@p.I654T 1 0.406779661 ENSG00000132842 chr5:78128037-78128037;A/G missense_variant False AP1M2@p.F220L 1 0.115044248 ENSG00000129354 chr19:10581279-10581279;G/T missense_variant False AP1G2@p.S5L 1 0.522727273 ENSG00000213983 chr14:23567301-23567301;G/A missense_variant False AP1G2@p.L88M 1 0.329545455 ENSG00000213983 chr14:23566629-23566629;G/T missense_variant False AP1G2@p.I223V 1 0.2 ENSG00000213983 chr14:23565680-23565680;T/C missense_variant False AP1G2@p.E96K 1 0.725868726 ENSG00000213983 chr14:23566605-23566605;C/T missense_variant False AP1G2@p.E13K 1 0.208333333 ENSG00000213983 chr14:23567278-23567278;C/T missense_variant False AP2A2@p.V308M 1 0.1 ENSG00000183020 chr11:985542-985542;G/A missense_variant False AP2B1@p.D224H 1 0.387096774 ENSG00000006125 chr17:35624541-35624541;G/C missense_variant False AP2B1@p.D273N 1 0.136363636 ENSG00000006125 chr17:35626721-35626721;G/A missense_variant False AP2B1@p.E297K 1 0.138408304 ENSG00000006125 chr17:35626793-35626793;G/A missense_variant False AP2B1@p.E464K 1 0.231884058 ENSG00000006125 chr17:35639713-35639713;G/A missense_variant False AP2B1@p.H575Y 1 0.31372549 ENSG00000006125 chr17:35650716-35650716;C/T missense_variant False AP2B1@p.L507F 1 0.161764706 ENSG00000006125 chr17:35641960-35641960;G/C missense_variant False AP2B1@p.R904L 1 0.095890411 ENSG00000006125 chr17:35717321-35717321;G/T missense_variant False AP2B1@p.R904P 1 0.118421053 ENSG00000006125 chr17:35717321-35717321;G/C missense_variant False AP2B1@p.S514Y 1 0.388888889 ENSG00000006125 chr17:35650534-35650534;C/A missense_variant False AP2B1@p.W714S 1 0.099502488 ENSG00000006125 chr17:35674180-35674180;G/C missense_variant False AP2M1@p.E147K 1 0.485559567 ENSG00000161203 chr3:184180858-184180858;G/A missense_variant False AP2M1@p.S397C 1 0.111111111 ENSG00000161203 chr3:184183498-184183498;C/G missense_variant False AP3B1@p.E942Q 1 0.225 ENSG00000132842 chr5:78034431-78034431;C/G missense_variant False AP3B1@p.F34L 1 0.827586207 ENSG00000132842 chr5:78294478-78294478;G/C missense_variant False AP3B1@p.G729A 1 0.098360656 ENSG00000132842 chr5:78113815-78113815;C/G missense_variant False AP3B1@p.H624Y 1 0.115384615 ENSG00000132842 chr5:78128128-78128128;G/A missense_variant False AP4E1@p.E827K 1 0.130434783 ENSG00000081014 chr15:50997458-50997458;G/A missense_variant False AP4E1@p.E983K 1 0.214285714 ENSG00000081014 chr15:50999114-50999114;G/A missense_variant False AP4E1@p.F818L 1 0.263157895 ENSG00000081014 chr15:50997433-50997433;T/A missense_variant False APBB3@p.G64A 1 0.253731343 ENSG00000113108 chr5:140563774-140563774;C/G missense_variant False APC@p.A766V 1 0.546875 ENSG00000134982 chr5:112837891-112837891;C/T missense_variant True APC@p.A1700V 1 0.346153846 ENSG00000134982 chr5:112840693-112840693;C/T missense_variant True APC2@p.V534L 1 0.252873563 ENSG00000115266 chr19:1461115-1461115;G/T missense_variant False APC2@p.S952L 1 0.666666667 ENSG00000115266 chr19:1466156-1466156;C/T missense_variant False APC2@p.R1249H 1 0.375 ENSG00000115266 chr19:1467047-1467047;G/A missense_variant False APC2@p.E1062Q 1 0.47826087 ENSG00000115266 chr19:1466485-1466485;G/C missense_variant False APBB3@p.D40N 1 0.291666667 ENSG00000113108 chr5:140563847-140563847;C/T missense_variant False APBB1@p.S647L 1 0.454545455 ENSG00000166313 chr11:6395811-6395811;G/A missense_variant False APBB2@p.R298K 1 0.134615385 ENSG00000163697 chr4:40945013-40945013;C/T missense_variant False APBB1IP@p.R201P 1 0.242424242 ENSG00000077420 chr10:26511817-26511817;G/C missense_variant False APBB1IP@p.N269K 1 0.204081633 ENSG00000077420 chr10:26513654-26513654;C/A missense_variant False APBB1IP@p.N115K 1 0.561797753 ENSG00000077420 chr10:26501003-26501003;T/A missense_variant False APBB1IP@p.E282Q 1 0.678571429 ENSG00000077420 chr10:26533469-26533469;G/C missense_variant False APBB1IP@p.E18D 1 0.244680851 ENSG00000077420 chr10:26492380-26492380;G/C missense_variant False APC@p.D1083H 1 0.688888889 ENSG00000134982 chr5:112838841-112838841;G/C missense_variant True APC@p.D2079H 1 0.220779221 ENSG00000134982 chr5:112841829-112841829;G/C missense_variant True APC@p.D2490N 1 0.123893805 ENSG00000134982 chr5:112843062-112843062;G/A missense_variant True APC@p.E1295K 1 0.304347826 ENSG00000134982 chr5:112839477-112839477;G/A missense_variant True APC@p.E1573Q 1 0.34375 ENSG00000134982 chr5:112840311-112840311;G/C missense_variant True APC@p.E1985K 1 0.203389831 ENSG00000134982 chr5:112841547-112841547;G/A missense_variant True APC@p.E2184Q 1 0.232142857 ENSG00000134982 chr5:112842144-112842144;G/C missense_variant True APC@p.E2516Q 1 0.365079365 ENSG00000134982 chr5:112843140-112843140;G/C missense_variant True APC@p.G108A 1 0.403726708 ENSG00000134982 chr5:112767291-112767291;G/C missense_variant True APC@p.Q1406H 1 0.288135593 ENSG00000134982 chr5:112839812-112839812;G/C missense_variant True APC@p.Q2117Yfs*15 1 0.215686275 ENSG00000134982 chr5:112841942-112841963;TCAAGCTGCTGCTGCTGCATGT/- frameshift_variant True APC@p.R168T 1 0.322580645 ENSG00000134982 chr5:112775709-112775709;G/C missense_variant True APC@p.R976K 1 0.409090909 ENSG00000134982 chr5:112838521-112838521;G/A missense_variant True APC@p.S811L 1 0.716666667 ENSG00000134982 chr5:112838026-112838026;C/T missense_variant True APC@p.T2823R 1 0.471910112 ENSG00000134982 chr5:112844062-112844062;C/G missense_variant True APCDD1@p.E393K 1 0.27480916 ENSG00000154856 chr18:10487670-10487670;G/A missense_variant False APCDD1@p.G394V 1 0.2 ENSG00000154856 chr18:10487674-10487674;G/T missense_variant False APBB1IP@p.E125Q 1 0.2625 ENSG00000077420 chr10:26501031-26501031;G/C missense_variant False APBB1@p.S266L 1 0.335820896 ENSG00000166313 chr11:6403747-6403747;G/A missense_variant False AP4E1@p.S456L 1 0.293333333 ENSG00000081014 chr15:50949876-50949876;C/T missense_variant False AP5M1@p.E12K 1 0.077777778 ENSG00000053770 chr14:57269348-57269348;G/A missense_variant False AP5Z1@p.E409K 1 0.215827338 ENSG00000242802 chr7:4786342-4786342;G/A missense_variant False AP5Z1@p.E256K 1 0.387096774 ENSG00000242802 chr7:4784347-4784347;G/A missense_variant False AP5M1@p.S210C 1 0.176923077 ENSG00000053770 chr14:57274798-57274798;C/G missense_variant False AP5M1@p.L275V 1 0.071038251 ENSG00000053770 chr14:57280297-57280297;C/G missense_variant False AP5M1@p.E215K 1 0.103896104 ENSG00000053770 chr14:57274812-57274812;G/A missense_variant False AP5M1@p.E133Q 1 0.063291139 ENSG00000053770 chr14:57274566-57274566;G/C missense_variant False AP5B1@p.S838L 1 0.538461538 ENSG00000254470 chr11:65777980-65777980;G/A missense_variant False APBB1@p.R85H 1 0.177142857 ENSG00000166313 chr11:6411094-6411094;C/T missense_variant False AP5B1@p.G550E 1 0.514285714 ENSG00000254470 chr11:65778844-65778844;C/T missense_variant False AP5B1@p.E795K 1 0.255555556 ENSG00000254470 chr11:65778110-65778110;C/T missense_variant False AP5B1@p.E708K 1 0.24 ENSG00000254470 chr11:65778371-65778371;C/T missense_variant False AP5B1@p.E443K 1 0.233333333 ENSG00000254470 chr11:65779166-65779166;C/T missense_variant False AP5B1@p.E384K 1 0.162162162 ENSG00000254470 chr11:65779343-65779343;C/T missense_variant False AP4M1@p.S10F 1 0.168316832 ENSG00000221838 chr7:100101743-100101743;C/T missense_variant False APAF1@p.D360N 1 0.1 ENSG00000120868 chr12:98665675-98665675;G/A missense_variant False APAF1@p.L473V 1 0.40625 ENSG00000120868 chr12:98667567-98667567;C/G missense_variant False APAF1@p.M301I 1 0.170731707 ENSG00000120868 chr12:98662754-98662754;G/T missense_variant False APAF1@p.N992Tfs*56 1 0.376811594 ENSG00000120868 chr12:98715441-98715441;A/- frameshift_variant False APAF1@p.P1167L 1 0.161849711 ENSG00000120868 chr12:98727216-98727216;C/T missense_variant False APBA1@p.E245K 1 0.396226415 ENSG00000107282 chr9:69516478-69516478;C/T missense_variant False APBA1@p.L419V 1 0.223529412 ENSG00000107282 chr9:69476089-69476089;G/C missense_variant False APBA2@p.A400T 1 0.28 ENSG00000034053 chr15:29093203-29093203;G/A missense_variant False APBA2@p.E112Q 1 0.219512195 ENSG00000034053 chr15:29054218-29054218;G/C missense_variant False APBA2@p.G678A 1 0.147540984 ENSG00000034053 chr15:29108385-29108385;G/C missense_variant False APBA2@p.H25N 1 0.09375 ENSG00000034053 chr15:29053957-29053957;C/A missense_variant False APBA2@p.L740F 1 0.041474654 ENSG00000034053 chr15:29117101-29117101;C/T missense_variant False APBA2@p.P535S 1 0.342105263 ENSG00000034053 chr15:29105457-29105457;C/T missense_variant False APBA2@p.R455H 1 0.36 ENSG00000034053 chr15:29101624-29101624;G/A missense_variant False APBA2@p.R473C 1 0.304347826 ENSG00000034053 chr15:29101677-29101677;C/T missense_variant False APBA3@p.L25V 1 0.172413793 ENSG00000011132 chr19:3760192-3760192;G/C missense_variant False APBB1@p.L50V 1 0.12987013 ENSG00000166313 chr11:6411200-6411200;G/C missense_variant False AP1G2@p.D644Y 1 0.1 ENSG00000213983 chr14:23561359-23561359;C/A missense_variant False AP1G2@p.A100D 1 0.219230769 ENSG00000213983 chr14:23566592-23566592;G/T missense_variant False AP1G1@p.V216L 1 0.282608696 ENSG00000166747 chr16:71765581-71765581;C/G missense_variant False ANPEP@p.D225H 1 0.4375 ENSG00000166825 chr15:89805405-89805405;C/G missense_variant False ANXA10@p.T188M 1 0.101694915 ENSG00000109511 chr4:168177918-168177918;C/T missense_variant False ANTXR2@p.D398N 1 0.333333333 ENSG00000163297 chr4:79978162-79978162;C/T missense_variant False ANPEP@p.S220F 1 0.594594595 ENSG00000166825 chr15:89805419-89805419;G/A missense_variant False ANPEP@p.P51L 1 0.3 ENSG00000166825 chr15:89806432-89806432;G/A missense_variant False ANPEP@p.I871V 1 0.132352941 ENSG00000166825 chr15:89791011-89791011;T/C missense_variant False ANPEP@p.E154Q 1 0.2 ENSG00000166825 chr15:89806124-89806124;C/G missense_variant False ANP32E@p.S219L 1 0.448598131 ENSG00000143401 chr1:150226633-150226633;G/A missense_variant False ANP32A@p.L95S 1 0.393258427 ENSG00000140350 chr15:68787456-68787456;A/G missense_variant False ANP32E@p.R257Q 1 0.104477612 ENSG00000143401 chr1:150220728-150220728;C/T missense_variant False ANP32E@p.E35Q 1 0.142857143 ENSG00000143401 chr1:150231878-150231878;C/G missense_variant False ANP32D@p.E21Q 1 0.213740458 ENSG00000139223 chr12:48472725-48472725;G/C missense_variant False ANP32B@p.N30I 1 0.4 ENSG00000136938 chr9:97994665-97994665;A/T missense_variant False ANP32B@p.E211K 1 0.157894737 ENSG00000136938 chr9:98011384-98011384;G/A missense_variant False ANP32A@p.S77L 1 0.3203125 ENSG00000140350 chr15:68787510-68787510;G/A missense_variant False ANXA11@p.G38R 1 0.378378378 ENSG00000122359 chr10:80170859-80170859;C/T missense_variant False ANXA11@p.G76E 1 0.260869565 ENSG00000122359 chr10:80169303-80169303;C/T missense_variant False ANXA11@p.R404W 1 0.232876712 ENSG00000122359 chr10:80159166-80159166;G/A missense_variant False ANXA13@p.D219H 1 0.244755245 ENSG00000104537 chr8:123688934-123688934;C/G missense_variant False ANXA13@p.E221Q 1 0.177339901 ENSG00000104537 chr8:123688928-123688928;C/G missense_variant False ANXA13@p.G61V 1 0.211538462 ENSG00000104537 chr8:123702646-123702646;C/A missense_variant False ANXA13@p.I151Sfs*20 1 0.126582278 ENSG00000104537 chr8:123695522-123695522;T/- frameshift_variant False ANXA1@p.A313T 1 0.455128205 ENSG00000135046 chr9:73169107-73169107;G/A missense_variant False ANXA1@p.P32A 1 0.18 ENSG00000135046 chr9:73158722-73158722;C/G missense_variant False ANXA1@p.P44S 1 0.231884058 ENSG00000135046 chr9:73158758-73158758;C/T missense_variant False ANXA2@p.I46M 1 0.411764706 ENSG00000182718 chr15:60382352-60382352;G/C missense_variant False ANXA2@p.R304S 1 0.1875 ENSG00000182718 chr15:60349123-60349123;C/A missense_variant False ANXA2R@p.L38I 1 0.16 ENSG00000177721 chr5:43039935-43039935;G/T missense_variant False ANXA3@p.A24G 1 0.208333333 ENSG00000138772 chr4:78573235-78573235;C/G missense_variant False ANXA3@p.T192M 1 0.181818182 ENSG00000138772 chr4:78595828-78595828;C/T missense_variant False ANXA4@p.R152Q 1 0.12987013 ENSG00000196975 chr2:69810651-69810651;G/A missense_variant False ANXA5@p.D20N 1 0.117647059 ENSG00000164111 chr4:121686324-121686324;C/T missense_variant False ANP32A@p.S56L 1 0.183098592 ENSG00000140350 chr15:68787807-68787807;G/A missense_variant False ANP32A@p.I50M 1 0.301369863 ENSG00000140350 chr15:68787824-68787824;G/C missense_variant False ANXA5@p.S243C 1 0.138461538 ENSG00000164111 chr4:121670006-121670006;G/C missense_variant False ANO6@p.S238F 1 0.367088608 ENSG00000177119 chr12:45348597-45348597;C/T missense_variant False ANO8@p.E63D 1 0.260869565 ENSG00000074855 chr19:17333718-17333718;C/G missense_variant False ANO8@p.E412K 1 0.271186441 ENSG00000074855 chr19:17330164-17330164;C/T missense_variant False ANO8@p.E1063K 1 0.326666667 ENSG00000074855 chr19:17324861-17324861;C/T missense_variant False ANO8@p.A432G 1 0.204678363 ENSG00000074855 chr19:17329993-17329993;G/C missense_variant False ANO8@p.A411D 1 0.238938053 ENSG00000074855 chr19:17330166-17330166;G/T missense_variant False ANO7@p.K254N 1 0.333333333 ENSG00000146205 chr2:241201343-241201343;G/C missense_variant False ANO6@p.M886I 1 0.290909091 ENSG00000177119 chr12:45429236-45429236;G/C missense_variant False ANP32A@p.D73N 1 0.197530864 ENSG00000140350 chr15:68787523-68787523;C/T missense_variant False ANO6@p.L403P 1 0.369369369 ENSG00000177119 chr12:45388203-45388203;T/C missense_variant False ANO6@p.E49Q 1 0.125 ENSG00000177119 chr12:45302088-45302088;G/C missense_variant False ANO6@p.E423K 1 0.3125 ENSG00000177119 chr12:45388262-45388262;G/A missense_variant False ANO6@p.D328N 1 0.583333333 ENSG00000177119 chr12:45357408-45357408;G/A missense_variant False ANO5@p.Y585D 1 0.144444444 ENSG00000171714 chr11:22262251-22262251;T/G missense_variant False ANO5@p.V90I 1 0.428571429 ENSG00000171714 chr11:22221184-22221184;G/A missense_variant False ANO8@p.E933K 1 0.36 ENSG00000074855 chr19:17325251-17325251;C/T missense_variant False ANO8@p.G1070D 1 0.133333333 ENSG00000074855 chr19:17324839-17324839;C/T missense_variant False ANO8@p.G137R 1 0.352941176 ENSG00000074855 chr19:17333181-17333181;C/T missense_variant False ANO8@p.P983A 1 0.2 ENSG00000074855 chr19:17325101-17325101;G/C missense_variant False ANO8@p.R327C 1 0.382113821 ENSG00000074855 chr19:17330842-17330842;G/A missense_variant False ANO8@p.R927Q 1 0.5625 ENSG00000074855 chr19:17325268-17325268;C/T missense_variant False ANO9@p.I716M 1 0.310344828 ENSG00000185101 chr11:418572-418572;G/C missense_variant False ANO9@p.L506V 1 0.296296296 ENSG00000185101 chr11:420835-420835;G/C missense_variant False ANO9@p.R119K 1 0.263157895 ENSG00000185101 chr11:432049-432049;C/T missense_variant False ANO9@p.R172Q 1 0.269230769 ENSG00000185101 chr11:431718-431718;C/T missense_variant False ANO9@p.R762W 1 0.340909091 ENSG00000185101 chr11:418436-418436;G/A missense_variant False ANOS1@p.E476K 1 0.161849711 ENSG00000011201 chrX:8539687-8539687;C/T missense_variant False ANOS1@p.H664Y 1 0.25 ENSG00000011201 chrX:8533048-8533048;G/A missense_variant False ANOS1@p.M335T 1 0.789473684 ENSG00000011201 chrX:8570557-8570557;A/G missense_variant False ANOS1@p.S659L 1 0.230769231 ENSG00000011201 chrX:8534327-8534327;G/A missense_variant False ANOS1@p.V160* 1 0.436619718 ENSG00000011201 chrX:8597097-8597097;C/- frameshift_variant False ANP32A@p.D169N 1 0.325581395 ENSG00000140350 chr15:68784418-68784418;C/T missense_variant False ANXA5@p.L312V 1 0.414285714 ENSG00000164111 chr4:121668497-121668497;G/C missense_variant False ANXA6@p.A2S 1 0.2 ENSG00000197043 chr5:151147898-151147898;C/A missense_variant False AP1G1@p.S534C 1 0.184210526 ENSG00000166747 chr16:71748275-71748275;G/C missense_variant False AOX1@p.D1035H 1 0.140625 ENSG00000138356 chr2:200656869-200656869;G/C missense_variant False AP000721.1@p.S28W 1 0.341463415 None chr11:63974763-63974763;C/G missense_variant False AP000471.1@p.R51Q 1 0.336956522 None chr21:46326439-46326439;G/A missense_variant False AP000311.1@p.R14Q 1 0.14516129 None chr21:33914496-33914496;C/T missense_variant False AOX1@p.R833C 1 0.875 ENSG00000138356 chr2:200638231-200638231;C/T missense_variant False AOX1@p.E967K 1 0.138613861 ENSG00000138356 chr2:200651025-200651025;G/A missense_variant False AOX1@p.E1132K 1 0.095238095 ENSG00000138356 chr2:200661597-200661597;G/A missense_variant False AOPEP@p.S437F 1 0.35106383 ENSG00000148120 chr9:94800948-94800948;C/T missense_variant False AOC3@p.N709H 1 0.125 ENSG00000131471 chr17:42856383-42856383;A/C missense_variant False AOPEP@p.R438W 1 0.277777778 ENSG00000148120 chr9:94800950-94800950;C/T missense_variant False AOPEP@p.N57S 1 0.341463415 ENSG00000148120 chr9:94759953-94759953;A/G missense_variant False AOPEP@p.L28M 1 0.294736842 ENSG00000148120 chr9:94759865-94759865;C/A missense_variant False AOPEP@p.E816K 1 0.090909091 ENSG00000148120 chr9:95082701-95082701;G/A missense_variant False AOPEP@p.E787K 1 0.387096774 ENSG00000148120 chr9:95082614-95082614;G/A missense_variant False AOPEP@p.E701Q 1 0.114285714 ENSG00000148120 chr9:95005602-95005602;G/C missense_variant False AP001781.2@p.Q204E 1 0.716049383 None chr11:111876563-111876563;G/C missense_variant False AP001781.2@p.Q215K 1 0.27027027 None chr11:111876530-111876530;G/T missense_variant False AP002512.3@p.E276Q 1 0.275862069 None chr11:56462891-56462891;C/G missense_variant False AP002512.3@p.T349M 1 0.475 None chr11:56462671-56462671;G/A missense_variant False AP002748.5@p.E374Q 1 0.458333333 None chr11:66523781-66523781;G/C missense_variant False AP002748.5@p.E590D 1 0.379487179 None chr11:66531706-66531706;G/C missense_variant False AP002748.5@p.I309M 1 0.416666667 None chr11:66521362-66521362;C/G missense_variant False AP002748.5@p.K537R 1 0.213333333 None chr11:66530919-66530919;A/G missense_variant False AP002748.5@p.S598L 1 0.333333333 None chr11:66531729-66531729;C/T missense_variant False AP1B1@p.D475N 1 0.545454545 ENSG00000100280 chr22:29349232-29349232;C/T missense_variant False AP1B1@p.K5T 1 0.229166667 ENSG00000100280 chr22:29367230-29367230;T/G missense_variant False AP1B1@p.N307S 1 0.092436975 ENSG00000100280 chr22:29354668-29354668;T/C missense_variant False AP1B1@p.Y405Cfs*21 1 0.114035088 ENSG00000100280 chr22:29350091-29350092;AT/- frameshift_variant False AP1B1@p.Y524N 1 0.157142857 ENSG00000100280 chr22:29341727-29341727;A/T missense_variant False AP1G1@p.L294F 1 0.177777778 ENSG00000166747 chr16:71764386-71764386;C/G missense_variant False AP1G1@p.L657F 1 0.282608696 ENSG00000166747 chr16:71745174-71745174;G/A missense_variant False AP1G1@p.P609A 1 0.11965812 ENSG00000166747 chr16:71745520-71745520;G/C missense_variant False AOPEP@p.E157Q 1 0.310679612 ENSG00000148120 chr9:94760252-94760252;G/C missense_variant False AOC3@p.L12V 1 0.164893617 ENSG00000131471 chr17:42851377-42851377;C/G missense_variant False ANXA6@p.A2V 1 0.2 ENSG00000197043 chr5:151147897-151147897;G/A missense_variant False ANXA8@p.A318T 1 0.15 ENSG00000276850 chr10:47468879-47468879;C/T missense_variant False ANXA9@p.R309Sfs*2 1 0.2 ENSG00000143412 chr1:150994649-150994650;AG/- frameshift_variant False ANXA9@p.G6E 1 0.153846154 ENSG00000143412 chr1:150983122-150983122;G/A missense_variant False ANXA9@p.E311Q 1 0.221122112 ENSG00000143412 chr1:150994655-150994655;G/C missense_variant False ANXA9@p.E228K 1 0.333333333 ENSG00000143412 chr1:150987941-150987941;G/A missense_variant False ANXA8@p.K100E 1 0.089775561 ENSG00000276850 chr10:47477104-47477104;T/C missense_variant False ANXA8@p.E101Q 1 0.25984252 ENSG00000276850 chr10:47477101-47477101;C/G missense_variant False ANXA7@p.Q335H 1 0.37012987 ENSG00000138279 chr10:73380181-73380181;C/G missense_variant False AOC3@p.A13S 1 0.176744186 ENSG00000131471 chr17:42851380-42851380;G/T missense_variant False ANXA7@p.G80E 1 0.388888889 ENSG00000138279 chr10:73398201-73398201;C/T missense_variant False ANXA7@p.G64E 1 0.428571429 ENSG00000138279 chr10:73398249-73398249;C/T missense_variant False ANXA6@p.L211V 1 0.4375 ENSG00000197043 chr5:151133103-151133103;G/C missense_variant False ANXA6@p.E643K 1 0.304347826 ENSG00000197043 chr5:151103605-151103605;C/T missense_variant False ANXA6@p.E227K 1 0.275 ENSG00000197043 chr5:151132533-151132533;C/T missense_variant False ANXA6@p.D149Tfs*23 1 0.403225806 ENSG00000197043 chr5:151136300-151136300;C/- frameshift_variant False ANXA9@p.S94C 1 0.108374384 ENSG00000143412 chr1:150984294-150984294;C/G missense_variant False AOAH@p.A26V 1 0.337349398 ENSG00000136250 chr7:36724072-36724072;G/A missense_variant False AOAH@p.D240H 1 0.121212121 ENSG00000136250 chr7:36618330-36618330;C/G missense_variant False AOAH@p.E245Q 1 0.174418605 ENSG00000136250 chr7:36618315-36618315;C/G missense_variant False AOAH@p.E52K 1 0.28 ENSG00000136250 chr7:36686768-36686768;C/T missense_variant False AOAH@p.G232S 1 0.274509804 ENSG00000136250 chr7:36620789-36620789;C/T missense_variant False AOAH@p.L196P 1 0.127659574 ENSG00000136250 chr7:36621776-36621776;A/G missense_variant False AOAH@p.N497K 1 0.118421053 ENSG00000136250 chr7:36530449-36530449;A/T missense_variant False AOAH@p.S153A 1 0.318181818 ENSG00000136250 chr7:36632100-36632100;A/C missense_variant False AOC1@p.D602N 1 0.692307692 ENSG00000002726 chr7:150858996-150858996;G/A missense_variant False AOC1@p.G498S 1 0.390977444 ENSG00000002726 chr7:150857962-150857962;G/A missense_variant False AOC1@p.L554V 1 0.161290323 ENSG00000002726 chr7:150858852-150858852;C/G missense_variant False AOC1@p.M475I 1 0.341666667 ENSG00000002726 chr7:150857895-150857895;G/A missense_variant False AOC1@p.R728G 1 0.11627907 ENSG00000002726 chr7:150861135-150861135;C/G missense_variant False AOC2@p.P35A 1 0.103448276 ENSG00000131480 chr17:42844729-42844729;C/G missense_variant False AOC2@p.P420S 1 0.22 ENSG00000131480 chr17:42845884-42845884;C/T missense_variant False AOC2@p.R210W 1 0.147540984 ENSG00000131480 chr17:42845254-42845254;C/T missense_variant False AHCTF1@p.R2135W 1 0.540229885 ENSG00000153207 chr1:246849708-246849708;G/A missense_variant False AHCTF1@p.M901I 1 0.333333333 ENSG00000153207 chr1:246885555-246885555;C/T missense_variant False CBX5@p.S95L 1 0.33220339 ENSG00000094916 chr12:54252081-54252081;G/A missense_variant False ACADSB@p.G115A 1 0.411214953 ENSG00000196177 chr10:123040506-123040506;G/C missense_variant False ACAN@p.E143K 1 0.193277311 ENSG00000157766 chr15:88839019-88839019;G/A missense_variant False ACAN@p.D223G 1 0.151162791 ENSG00000157766 chr15:88841778-88841778;A/G missense_variant False ACAN@p.D2123H 1 0.175 ENSG00000157766 chr15:88858952-88858952;G/C missense_variant False ACAN@p.A767T 1 0.111111111 ENSG00000157766 chr15:88854884-88854884;G/A missense_variant False ACADVL@p.D313H 1 0.421052632 ENSG00000072778 chr17:7222725-7222725;G/C missense_variant False ACADSB@p.M63I 1 0.094339623 ENSG00000196177 chr10:123034502-123034502;G/T missense_variant False ACADS@p.K227T 1 0.133333333 ENSG00000122971 chr12:120738335-120738335;A/C missense_variant False ACAN@p.E2219K 1 0.377777778 ENSG00000157766 chr15:88859240-88859240;G/A missense_variant False ACADS@p.G164E 1 0.131147541 ENSG00000122971 chr12:120737855-120737855;G/A missense_variant False ACADS@p.E396K 1 0.428571429 ENSG00000122971 chr12:120739395-120739395;G/A missense_variant False ACADS@p.E354G 1 0.345794393 ENSG00000122971 chr12:120739171-120739171;A/G missense_variant False ACADM@p.R206H 1 0.148760331 ENSG00000117054 chr1:75745823-75745823;G/A missense_variant False ACADL@p.S231T 1 0.285714286 ENSG00000115361 chr2:210205708-210205708;C/G missense_variant False ACAD9@p.L98S 1 0.267857143 ENSG00000177646 chr3:128893603-128893603;T/C missense_variant False ACAN@p.E2170Q 1 0.448275862 ENSG00000157766 chr15:88859093-88859093;G/C missense_variant False ACAN@p.E2423K 1 0.061946903 ENSG00000157766 chr15:88872050-88872050;G/A missense_variant False ACIN1@p.S701L 1 0.12195122 ENSG00000100813 chr14:23078899-23078899;G/A missense_variant False ACAN@p.P2189L 1 0.157894737 ENSG00000157766 chr15:88859151-88859151;C/T missense_variant False ACAP1@p.E425K 1 0.261363636 ENSG00000072818 chr17:7347172-7347172;G/A missense_variant False ACAP1@p.C315Y 1 0.421568627 ENSG00000072818 chr17:7346428-7346428;G/A missense_variant False ACAN@p.V330M 1 0.305084746 ENSG00000157766 chr15:88843585-88843585;G/A missense_variant False ACAN@p.R925K 1 0.3125 ENSG00000157766 chr15:88855359-88855359;G/A missense_variant False ACAN@p.Q285H 1 0.611111111 ENSG00000157766 chr15:88843452-88843452;G/T missense_variant False ACAN@p.P50S 1 0.163934426 ENSG00000157766 chr15:88838740-88838740;C/T missense_variant False ACAN@p.L586F 1 0.466666667 ENSG00000157766 chr15:88849461-88849461;C/T missense_variant False ACAN@p.E2516Q 1 0.156862745 ENSG00000157766 chr15:88873940-88873940;G/C missense_variant False ACAN@p.H2137Y 1 0.115384615 ENSG00000157766 chr15:88858994-88858994;C/T missense_variant False ACAN@p.G1474E 1 0.130841121 ENSG00000157766 chr15:88857006-88857006;G/A missense_variant False ACAN@p.G1425A 1 0.240625 ENSG00000157766 chr15:88856859-88856859;G/C missense_variant False ACAN@p.E936K 1 0.511111111 ENSG00000157766 chr15:88855391-88855391;G/A missense_variant False ACAN@p.E687Q 1 0.272727273 ENSG00000157766 chr15:88851826-88851826;G/C missense_variant False ACAN@p.E272K 1 0.52173913 ENSG00000157766 chr15:88843411-88843411;G/A missense_variant False ACAD9@p.E81K 1 0.352941176 ENSG00000177646 chr3:128884743-128884743;G/A missense_variant False ACAD9@p.E596K 1 0.431372549 ENSG00000177646 chr3:128912527-128912527;G/A missense_variant False ACAD9@p.E248Q 1 0.242424242 ENSG00000177646 chr3:128899395-128899395;G/C missense_variant False ACACB@p.E1566K 1 0.2 ENSG00000076555 chr12:109239863-109239863;G/A missense_variant False ACACB@p.Q937K 1 0.259541985 ENSG00000076555 chr12:109201597-109201597;C/A missense_variant False ACACB@p.L721F 1 0.285714286 ENSG00000076555 chr12:109191631-109191631;G/C missense_variant False ACACB@p.F704L 1 0.161971831 ENSG00000076555 chr12:109188130-109188130;C/G missense_variant False ACACB@p.E990K 1 0.728476821 ENSG00000076555 chr12:109206764-109206764;G/A missense_variant False ACACB@p.E445K 1 0.489361702 ENSG00000076555 chr12:109176159-109176159;G/A missense_variant False ACACB@p.E249K 1 0.107142857 ENSG00000076555 chr12:109166952-109166952;G/A missense_variant False ACACB@p.D2269G 1 0.206703911 ENSG00000076555 chr12:109264250-109264250;A/G missense_variant False ACAD9@p.E114K 1 0.101694915 ENSG00000177646 chr3:128893650-128893650;G/A missense_variant False ACACB@p.A1848V 1 0.092783505 ENSG00000076555 chr12:109246420-109246420;C/T missense_variant False ACACB@p.A1833T 1 0.683333333 ENSG00000076555 chr12:109246374-109246374;G/A missense_variant False ACACA@p.S592C 1 0.141025641 ENSG00000278540 chr17:37257754-37257754;G/C missense_variant False ACACA@p.S1654C 1 0.074074074 ENSG00000278540 chr17:37179378-37179378;G/C missense_variant False ACACA@p.S115G 1 0.41025641 ENSG00000278540 chr17:37284966-37284966;T/C missense_variant False ACACA@p.R604K 1 0.271428571 ENSG00000278540 chr17:37257718-37257718;C/T missense_variant False ACACB@p.S51C 1 0.149425287 ENSG00000076555 chr12:109139557-109139557;C/G missense_variant False ACACB@p.V558M 1 0.344262295 ENSG00000076555 chr12:109179941-109179941;G/A missense_variant False ACACB@p.W2328C 1 0.130769231 ENSG00000076555 chr12:109265151-109265151;G/C missense_variant False ACAD10@p.A774S 1 0.142857143 ENSG00000111271 chr12:111747112-111747112;G/T missense_variant False ACAD10@p.D213N 1 0.308823529 ENSG00000111271 chr12:111709631-111709631;G/A missense_variant False ACAD10@p.E111Q 1 0.142857143 ENSG00000111271 chr12:111702305-111702305;G/C missense_variant False ACAD10@p.R223T 1 0.356164384 ENSG00000111271 chr12:111709662-111709662;G/C missense_variant False ACAD10@p.S1002F 1 0.141025641 ENSG00000111271 chr12:111755711-111755711;C/T missense_variant False ACAD10@p.S648L 1 0.238095238 ENSG00000111271 chr12:111744871-111744871;C/T missense_variant False ACAD10@p.S929L 1 0.292682927 ENSG00000111271 chr12:111749314-111749314;C/T missense_variant False ACAD11@p.K683N 1 0.237288136 ENSG00000240303 chr3:132561170-132561170;C/A missense_variant False ACAD11@p.L328I 1 0.034482759 ENSG00000240303 chr3:132628428-132628428;G/T missense_variant False ACAD11@p.Q469R 1 0.166666667 ENSG00000240303 chr3:132618642-132618642;T/C missense_variant False ACAD11@p.R326T 1 0.069230769 ENSG00000240303 chr3:132628433-132628433;C/G missense_variant False ACAD8@p.E343K 1 0.340909091 ENSG00000151498 chr11:134261825-134261825;G/A missense_variant False ACAD8@p.G40A 1 0.234042553 ENSG00000151498 chr11:134256557-134256557;G/C missense_variant False ACAD8@p.R330Q 1 0.111111111 ENSG00000151498 chr11:134261787-134261787;G/A missense_variant False ACAP1@p.E429Q 1 0.094594595 ENSG00000072818 chr17:7347184-7347184;G/C missense_variant False ACAP1@p.L98V 1 0.155555556 ENSG00000072818 chr17:7342422-7342422;C/G missense_variant False ACAP2@p.D323H 1 0.22705314 ENSG00000114331 chr3:195307266-195307266;C/G missense_variant False ACE@p.S1044N 1 0.16 ENSG00000159640 chr17:63493654-63493654;G/A missense_variant False ACER3@p.E87K 1 0.416666667 ENSG00000078124 chr11:76959023-76959023;G/A missense_variant False ACER2@p.S271L 1 0.145728643 ENSG00000177076 chr9:19450620-19450620;C/T missense_variant False ACER1@p.R241C 1 0.2 ENSG00000167769 chr19:6306788-6306788;G/A missense_variant False ACER1@p.E11K 1 0.411764706 ENSG00000167769 chr19:6333521-6333521;C/T missense_variant False ACE@p.V936M 1 0.103174603 ENSG00000159640 chr17:63491275-63491275;G/A missense_variant False ACE@p.V936L 1 0.101694915 ENSG00000159640 chr17:63491275-63491275;G/T missense_variant False ACE@p.R796T 1 0.384615385 ENSG00000159640 chr17:63488729-63488729;G/C missense_variant False ACD@p.E374K 1 0.245901639 ENSG00000102977 chr16:67658330-67658330;C/T missense_variant False ACE@p.P484H 1 0.388888889 ENSG00000159640 chr17:63483137-63483137;C/A missense_variant False ACE@p.I809M 1 0.175 ENSG00000159640 chr17:63488769-63488769;C/G missense_variant False ACE@p.E788K 1 0.100502513 ENSG00000159640 chr17:63488704-63488704;G/A missense_variant False ACE2@p.Q325P 1 0.587378641 ENSG00000130234 chrX:15581317-15581317;T/G missense_variant False ACD@p.S354C 1 0.185185185 ENSG00000102977 chr16:67658581-67658581;G/C missense_variant False ACD@p.P359T 1 0.173333333 ENSG00000102977 chr16:67658567-67658567;G/T missense_variant False ACER3@p.M151I 1 0.290322581 ENSG00000078124 chr11:76998777-76998777;G/C missense_variant False ACHE@p.A504T 1 0.16 ENSG00000087085 chr7:100892377-100892377;C/T missense_variant False ACHE@p.D105Y 1 0.211382114 ENSG00000087085 chr7:100893920-100893920;C/A missense_variant False ACHE@p.G261S 1 0.205882353 ENSG00000087085 chr7:100893452-100893452;C/T missense_variant False ACHE@p.P477S 1 0.351351351 ENSG00000087085 chr7:100892458-100892458;G/A missense_variant False ACHE@p.P80S 1 0.164835165 ENSG00000087085 chr7:100893995-100893995;G/A missense_variant False ACIN1@p.D912E 1 0.054187192 ENSG00000100813 chr14:23064138-23064138;G/T missense_variant False ACIN1@p.E155K 1 0.242424242 ENSG00000100813 chr14:23090549-23090549;C/T missense_variant False ACIN1@p.E270K 1 0.145985401 ENSG00000100813 chr14:23080701-23080701;C/T missense_variant False ACIN1@p.E544K 1 0.218978102 ENSG00000100813 chr14:23079879-23079879;C/T missense_variant False ACIN1@p.E636Q 1 0.434210526 ENSG00000100813 chr14:23079603-23079603;C/G missense_variant False ACIN1@p.E726Q 1 0.45 ENSG00000100813 chr14:23078825-23078825;C/G missense_variant False ACIN1@p.E899Q 1 0.394736842 ENSG00000100813 chr14:23064179-23064179;C/G missense_variant False ACIN1@p.I438T 1 0.144067797 ENSG00000100813 chr14:23080196-23080196;A/G missense_variant False ACIN1@p.R1306K 1 0.219178082 ENSG00000100813 chr14:23059257-23059257;C/T missense_variant False ACIN1@p.S1196G 1 0.633165829 ENSG00000100813 chr14:23061310-23061310;T/C missense_variant False ACIN1@p.S578C 1 0.163522013 ENSG00000100813 chr14:23079776-23079776;G/C missense_variant False ACD@p.G480E 1 0.232758621 ENSG00000102977 chr16:67658011-67658011;C/T missense_variant False ACD@p.E317Q 1 0.384615385 ENSG00000102977 chr16:67658771-67658771;C/G missense_variant False ACAP2@p.E135Q 1 0.7 ENSG00000114331 chr3:195342596-195342596;C/G missense_variant False ACAT1@p.G129E 1 0.04950495 ENSG00000075239 chr11:108135193-108135193;G/A missense_variant False ACBD3@p.R484Q 1 0.043010753 ENSG00000182827 chr1:226146746-226146746;C/T missense_variant False ACBD3@p.R238W 1 0.425531915 ENSG00000182827 chr1:226161547-226161547;G/A missense_variant False ACBD3@p.D454N 1 0.097222222 ENSG00000182827 chr1:226152350-226152350;C/T missense_variant False ACAT2@p.V286A 1 0.515625 ENSG00000120437 chr6:159777401-159777401;T/C missense_variant False ACAT1@p.S382F 1 0.259259259 ENSG00000075239 chr11:108146341-108146341;C/T missense_variant False ACAT1@p.P118A 1 0.256880734 ENSG00000075239 chr11:108135159-108135159;C/G missense_variant False ACAT1@p.E345Rfs*10 1 0.184834123 ENSG00000075239 chr11:108146222-108146223;-/A frameshift_variant False ACD@p.A250T 1 0.947368421 ENSG00000102977 chr16:67659232-67659232;C/T missense_variant False ACAP3@p.R540Q 1 0.194444444 ENSG00000131584 chr1:1295822-1295822;C/T missense_variant False ACAP3@p.R532C 1 0.507042254 ENSG00000131584 chr1:1295847-1295847;G/A missense_variant False ACAP3@p.C373S 1 0.642857143 ENSG00000131584 chr1:1297832-1297832;C/G missense_variant False ACAP3@p.A599T 1 0.153846154 ENSG00000131584 chr1:1295465-1295465;C/T missense_variant False ACAP3@p.A357T 1 0.418604651 ENSG00000131584 chr1:1297881-1297881;C/T missense_variant False ACAP2@p.K537N 1 0.298245614 ENSG00000114331 chr3:195295769-195295769;C/G missense_variant False ACBD3@p.S414L 1 0.068181818 ENSG00000182827 chr1:226152469-226152469;G/A missense_variant False ACBD3@p.S438F 1 0.370786517 ENSG00000182827 chr1:226152397-226152397;G/A missense_variant False ACBD4@p.G194R 1 0.114754098 ENSG00000181513 chr17:45137929-45137929;G/A missense_variant False ACBD5@p.D383H 1 0.40625 ENSG00000107897 chr10:27210898-27210898;C/G missense_variant False ACBD5@p.E207K 1 0.078651685 ENSG00000107897 chr10:27219756-27219756;C/T missense_variant False ACBD5@p.E402K 1 0.306930693 ENSG00000107897 chr10:27210841-27210841;C/T missense_variant False ACBD5@p.E80K 1 0.277108434 ENSG00000107897 chr10:27235150-27235150;C/T missense_variant False ACBD6@p.E224Q 1 0.12244898 ENSG00000230124 chr1:180314716-180314716;C/G missense_variant False ACBD7@p.D70H 1 0.047244094 ENSG00000176244 chr10:15078589-15078589;C/G missense_variant False ACBD7@p.K85N 1 0.452380952 ENSG00000176244 chr10:15078542-15078542;T/A missense_variant False ACBD7@p.T68M 1 0.231884058 ENSG00000176244 chr10:15078594-15078594;G/A missense_variant False ACCS@p.R457L 1 0.243902439 ENSG00000110455 chr11:44083539-44083539;G/T missense_variant False ACCS@p.S243C 1 0.357142857 ENSG00000110455 chr11:44077918-44077918;C/G missense_variant False ACCSL@p.E187K 1 0.164556962 ENSG00000205126 chr11:44050116-44050116;G/A missense_variant False ACCSL@p.E346A 1 0.117647059 ENSG00000205126 chr11:44053494-44053494;A/C missense_variant False ACCSL@p.M194I 1 0.285024155 ENSG00000205126 chr11:44050569-44050569;G/A missense_variant False ACCSL@p.R478H 1 0.12605042 ENSG00000205126 chr11:44058422-44058422;G/A missense_variant False ACACA@p.R1958T 1 0.1125 ENSG00000278540 chr17:37129436-37129436;C/G missense_variant False ACACA@p.R1738G 1 0.130434783 ENSG00000278540 chr17:37161918-37161918;T/C missense_variant False ACACA@p.R148C 1 0.095744681 ENSG00000278540 chr17:37284867-37284867;G/A missense_variant False AC005324.2@p.K289N 1 0.296875 None chr17:15632657-15632657;C/G missense_variant False AC006059.2@p.S636L 1 0.204819277 None chr3:42713197-42713197;G/A missense_variant False AC006059.2@p.Q218H 1 0.233333333 None chr3:42751954-42751954;C/G missense_variant False AC006059.2@p.G86E 1 0.141732283 None chr3:42758158-42758158;C/T missense_variant False AC006059.2@p.E366K 1 0.162561576 None chr3:42739771-42739771;C/T missense_variant False AC005833.1@p.R524K 1 0.135802469 None chr12:4772464-4772464;G/A missense_variant False AC005833.1@p.D408H 1 0.323076923 None chr12:4763325-4763325;G/C missense_variant False AC005324.2@p.E210K 1 0.079365079 None chr17:15636257-15636257;C/T missense_variant False AC004593.2@p.L343P 1 0.2 None chr7:29499930-29499930;T/C missense_variant False AC005324.2@p.D378N 1 0.365671642 None chr17:15629178-15629178;C/T missense_variant False AC004922.1@p.S170F 1 0.644628099 None chr7:99353917-99353917;C/T missense_variant False AC004922.1@p.E379K 1 0.362445415 None chr7:99386759-99386759;G/A missense_variant False AC004922.1@p.E128K 1 0.2 None chr7:99344505-99344505;G/A missense_variant False AC004832.3@p.L207F 1 0.207317073 None chr22:30426752-30426752;C/T missense_variant False AC004832.3@p.E202K 1 0.372413793 None chr22:30426737-30426737;G/A missense_variant False AC006059.2@p.T659S 1 0.372093023 None chr3:42709765-42709765;G/C missense_variant False AC008397.2@p.D453V 1 0.224 None chr19:18216868-18216868;T/A missense_variant False AC008397.2@p.G7S 1 0.75 None chr19:18233173-18233173;C/T missense_variant False AC008397.2@p.Q98E 1 0.448275862 None chr19:18222274-18222274;G/C missense_variant False AC008397.2@p.R640Q 1 0.166666667 None chr19:18211149-18211149;C/T missense_variant False AC008397.2@p.T406M 1 0.47260274 None chr19:18218347-18218347;G/A missense_variant False AC008676.3@p.L66V 1 0.201612903 None chr5:157343341-157343341;G/C missense_variant False AC008878.1@p.S40L 1 0.108108108 None chr19:7519263-7519263;C/T missense_variant False AC011448.1@p.R211C 1 0.25 None chr19:19535619-19535619;C/T missense_variant False AC011462.1@p.E18K 1 0.515923567 None chr19:41378361-41378361;G/A missense_variant False AC011462.1@p.E20K 1 0.506849315 None chr19:41378367-41378367;G/A missense_variant False AC011462.1@p.E470K 1 0.212560386 None chr19:41424576-41424576;G/A missense_variant False AC011462.1@p.Y154C 1 0.304597701 None chr19:41410993-41410993;A/G missense_variant False AC013489.1@p.C144F 1 0.151515152 None chr15:88531275-88531275;C/A missense_variant False AC013489.1@p.R11Q 1 0.445945946 None chr15:88531674-88531674;C/T missense_variant False AC018630.4@p.D80N 1 0.242424242 None chr12:10847269-10847269;C/T missense_variant False AC020907.6@p.V17L 1 0.104477612 None chr19:35121086-35121086;G/C missense_variant False AC004832.3@p.E199K 1 0.25 None chr22:30426728-30426728;G/A missense_variant False AC004593.2@p.K193N 1 0.258064516 None chr7:29400606-29400606;G/C missense_variant False AC023055.1@p.N454D 1 0.357142857 None chr12:55790578-55790578;T/C missense_variant False ABLIM1@p.E343V 1 0.260416667 ENSG00000099204 chr10:114487971-114487971;T/A missense_variant False ABR@p.D326N 1 0.266666667 ENSG00000159842 chr17:1070009-1070009;C/T missense_variant False ABO@p.R179H 1 0.142857143 ENSG00000175164 chr9:133256192-133256192;C/T missense_variant False ABLIM2@p.E159K 1 0.304347826 ENSG00000163995 chr4:8080782-8080782;C/T missense_variant False ABLIM2@p.D405N 1 0.189189189 ENSG00000163995 chr4:8020259-8020259;C/T missense_variant False ABLIM1@p.M771I 1 0.411764706 ENSG00000099204 chr10:114436284-114436284;C/G missense_variant False ABLIM1@p.E93Q 1 0.125 ENSG00000099204 chr10:114601929-114601929;C/G missense_variant False ABLIM1@p.E25K 1 0.431372549 ENSG00000099204 chr10:114658128-114658128;C/T missense_variant False AC004593.2@p.A315S 1 0.230769231 None chr7:29496015-29496015;G/T missense_variant False ABLIM1@p.E17Q 1 0.086956522 ENSG00000099204 chr10:114658152-114658152;C/G missense_variant False ABL2@p.Y388Cfs*13 1 0.127659574 ENSG00000143322 chr1:179118625-179118647;AGAAGAAATCTGAGTGGCCATGT/- frameshift_variant False ABL2@p.V136Efs*3 1 0.14 ENSG00000143322 chr1:179126641-179126657;CTGGTTGTAACCAAGGA/- frameshift_variant False ABL2@p.S690L 1 0.157232704 ENSG00000143322 chr1:179109198-179109198;G/A missense_variant False ABL2@p.S159N 1 0.171428571 ENSG00000143322 chr1:179126588-179126588;C/T missense_variant False ABL2@p.R1070G 1 0.2 ENSG00000143322 chr1:179108059-179108059;T/C missense_variant False ABR@p.E452Q 1 0.088235294 ENSG00000159842 chr17:1057997-1057997;C/G missense_variant False ABR@p.M117I 1 0.171641791 ENSG00000159842 chr17:1091845-1091845;C/T missense_variant False ABR@p.R319W 1 0.083333333 ENSG00000159842 chr17:1070030-1070030;G/A missense_variant False ABR@p.S512C 1 0.25 ENSG00000159842 chr17:1056061-1056061;G/C missense_variant False ABRA@p.G198V 1 0.16 ENSG00000174429 chr8:106769598-106769598;C/A missense_variant False ABRA@p.G282E 1 0.433333333 ENSG00000174429 chr8:106761338-106761338;C/T missense_variant False ABRA@p.M310I 1 0.406976744 ENSG00000174429 chr8:106761253-106761253;C/T missense_variant False ABRA@p.R31P 1 0.107843137 ENSG00000174429 chr8:106770099-106770099;C/G missense_variant False ABRAXAS2@p.E317K 1 0.303571429 ENSG00000165660 chr10:124834672-124834672;G/A missense_variant False ABRAXAS2@p.E35Q 1 0.393442623 ENSG00000165660 chr10:124806861-124806861;G/C missense_variant False ABRAXAS2@p.S394L 1 0.202531646 ENSG00000165660 chr10:124834904-124834904;C/T missense_variant False ABT1@p.G255R 1 0.394366197 ENSG00000146109 chr6:26598589-26598589;G/A missense_variant False ABT1@p.R135C 1 0.414634146 ENSG00000146109 chr6:26598075-26598075;C/T missense_variant False ABTB1@p.L257I 1 0.276190476 ENSG00000114626 chr3:127677471-127677471;C/A missense_variant False ABTB2@p.S867C 1 0.553571429 ENSG00000166016 chr11:34159912-34159912;G/C missense_variant False ABTB2@p.T335I 1 0.546511628 ENSG00000166016 chr11:34204570-34204570;G/A missense_variant False AC004076.1@p.S99F 1 0.288888889 None chr19:57455704-57455704;G/A missense_variant False AC023055.1@p.E382K 1 0.125 None chr12:55800608-55800608;C/T missense_variant False AC023055.1@p.R422Q 1 0.387096774 None chr12:55794858-55794858;C/T missense_variant False ACACA@p.R1405L 1 0.380952381 ENSG00000278540 chr17:37192292-37192292;C/A missense_variant False AC244197.3@p.R155S 1 0.170212766 None chrX:149487007-149487007;C/A missense_variant False ACAA1@p.A98Gfs*12 1 0.358208955 ENSG00000060971 chr3:38133982-38133983;-/C frameshift_variant False AC253536.7@p.G123D 1 0.057971014 None chr22:23971582-23971582;C/T missense_variant False AC245033.1@p.E528K 1 0.233853007 None chr15:82538906-82538906;C/T missense_variant False AC245033.1@p.D548H 1 0.304347826 None chr15:82538338-82538338;C/G missense_variant False AC245033.1@p.A488G 1 0.229946524 None chr15:82540020-82540020;G/C missense_variant False AC244197.3@p.S280F 1 0.61 None chrX:149482927-149482927;G/A missense_variant False AC244197.3@p.L96S 1 0.182608696 None chrX:149490400-149490400;A/G missense_variant False AC131160.1@p.L240V 1 0.038167939 None chr3:183842337-183842337;G/C missense_variant False AC242842.3@p.S9Vfs*3 1 0.102040816 None chr1:149475954-149475955;-/G frameshift_variant False AC242842.3@p.D404N 1 0.166666667 None chr1:149488182-149488182;G/A missense_variant False AC139530.2@p.L76V 1 0.166666667 None chr17:81704395-81704395;C/G missense_variant False AC139530.2@p.E46Q 1 0.315789474 None chr17:81704305-81704305;G/C missense_variant False AC136428.1@p.Y114C 1 0.251082251 None chr16:33844792-33844792;T/C missense_variant False AC134980.2@p.C223F 1 0.153846154 None chr15:22095189-22095189;G/T missense_variant False ACAA1@p.D232N 1 0.243902439 ENSG00000060971 chr3:38126633-38126633;C/T missense_variant False ACAA1@p.D315Y 1 0.076086957 ENSG00000060971 chr3:38126216-38126216;C/A missense_variant False ACAA2@p.G139E 1 0.302325581 ENSG00000167315 chr18:49795778-49795778;C/T missense_variant False ACACA@p.D1587N 1 0.490909091 ENSG00000278540 chr17:37188294-37188294;C/T missense_variant False ACACA@p.D1618N 1 0.047169811 ENSG00000278540 chr17:37181281-37181281;C/T missense_variant False ACACA@p.D232N 1 0.13559322 ENSG00000278540 chr17:37277922-37277922;C/T missense_variant False ACACA@p.E1053Q 1 0.240506329 ENSG00000278540 chr17:37235064-37235064;C/G missense_variant False ACACA@p.E2200Q 1 0.254237288 ENSG00000278540 chr17:37097952-37097952;C/G missense_variant False ACACA@p.I1862V 1 0.28 ENSG00000278540 chr17:37149959-37149959;T/C missense_variant False ACACA@p.I2182M 1 0.34939759 ENSG00000278540 chr17:37111550-37111550;G/C missense_variant False ACACA@p.I2329M 1 0.04 ENSG00000278540 chr17:37088979-37088979;G/C missense_variant False ACACA@p.I432V 1 0.074074074 ENSG00000278540 chr17:37263720-37263720;T/C missense_variant False ACACA@p.L1414V 1 0.32 ENSG00000278540 chr17:37192266-37192266;G/C missense_variant False ACACA@p.L295F 1 0.445783133 ENSG00000278540 chr17:37275969-37275969;G/A missense_variant False ACACA@p.L395V 1 0.525423729 ENSG00000278540 chr17:37263831-37263831;G/C missense_variant False ACACA@p.P538S 1 0.115384615 ENSG00000278540 chr17:37258262-37258262;G/A missense_variant False ACACA@p.Q22E 1 0.1875 ENSG00000278540 chr17:37339825-37339825;G/C missense_variant False AC131160.1@p.P81S 1 0.320610687 None chr3:183867945-183867945;G/A missense_variant False AC131160.1@p.K328T 1 0.5 None chr3:183833537-183833537;T/G missense_variant False AC023055.1@p.S443C 1 0.157024793 None chr12:55794376-55794376;G/C missense_variant False AC090517.4@p.E615D 1 0.203703704 None chr15:56666505-56666505;C/A missense_variant False AC092143.1@p.V516I 1 0.223443223 None chr16:89934956-89934956;G/A missense_variant False AC092143.1@p.P693L 1 0.690140845 None chr16:89935488-89935488;C/T missense_variant False AC092143.1@p.M647I 1 0.255952381 None chr16:89935351-89935351;G/A missense_variant False AC092143.1@p.E768K 1 0.127777778 None chr16:89935712-89935712;G/A missense_variant False AC092143.1@p.E369K 1 0.2 None chr16:89932577-89932577;G/A missense_variant False AC090517.4@p.S215L 1 0.092592593 None chr15:56689138-56689138;G/A missense_variant False AC068580.4@p.P304A 1 0.24137931 None chr11:1754056-1754056;G/C missense_variant False AC131160.1@p.F300C 1 0.218181818 None chr3:183833755-183833755;A/C missense_variant False AC068580.4@p.I191T 1 0.291666667 None chr11:1757456-1757456;A/G missense_variant False AC068580.4@p.G50D 1 0.25 None chr11:1761388-1761388;C/T missense_variant False AC068580.4@p.F231L 1 0.358974359 None chr11:1757335-1757335;G/C missense_variant False AC025165.3@p.Q82E 1 0.282608696 None chr12:57783277-57783277;C/G missense_variant False AC024598.1@p.Q414E 1 0.193548387 None chr10:62666148-62666148;C/G missense_variant False AC023055.1@p.V403M 1 0.109375 None chr12:55796060-55796060;C/T missense_variant False AC092718.8@p.S114C 1 0.25 None chr16:81084546-81084546;G/C missense_variant False AC093525.2@p.G345A 1 0.137931034 None chr16:2519286-2519286;G/C missense_variant False AC093525.2@p.H371Y 1 0.230769231 None chr16:2519363-2519363;C/T missense_variant False AC098582.1@p.I648V 1 0.140625 None chr4:88676364-88676364;A/G missense_variant False AC098582.1@p.P492S 1 0.073529412 None chr4:88667922-88667922;C/T missense_variant False AC098582.1@p.S715F 1 0.172839506 None chr4:88678106-88678106;C/T missense_variant False AC100868.1@p.D430H 1 0.146341463 None chr8:132036398-132036398;C/G missense_variant False AC100868.1@p.E325Q 1 0.254237288 None chr8:132041116-132041116;C/G missense_variant False AC100868.1@p.R502I 1 0.129287599 None chr8:132032043-132032043;C/A missense_variant False AC104389.6@p.V156L 1 0.105263158 None chr11:5248400-5248400;C/G missense_variant False AC104452.1@p.S432F 1 0.479166667 None chr3:49417694-49417694;G/A missense_variant False AC109583.1@p.E118K 1 0.2 None chr3:46715653-46715653;C/T missense_variant False AC109583.1@p.E338K 1 0.208955224 None chr3:46712392-46712392;C/T missense_variant False AC126283.2@p.D443E 1 0.186666667 None chr4:109746322-109746322;A/C missense_variant False AC126283.2@p.R187Q 1 0.824817518 None chr4:109761615-109761615;C/T missense_variant False AC131160.1@p.A317S 1 0.142857143 None chr3:183833571-183833571;C/A missense_variant False AC131160.1@p.E148K 1 0.254385965 None chr3:183866645-183866645;C/T missense_variant False ACIN1@p.S647L 1 0.076923077 ENSG00000100813 chr14:23079569-23079569;G/A missense_variant False ACIN1@p.S714L 1 0.24 ENSG00000100813 chr14:23078860-23078860;G/A missense_variant False ABL2@p.L1069V 1 0.307692308 ENSG00000143322 chr1:179108062-179108062;G/C missense_variant False ACTG1@p.M190I 1 0.298969072 ENSG00000184009 chr17:81511420-81511420;C/T missense_variant False ACTL6A@p.D17H 1 0.179104478 ENSG00000136518 chr3:179569847-179569847;G/C missense_variant False ACTL10@p.D90N 1 0.441176471 ENSG00000288649 chr20:33667765-33667765;G/A missense_variant False ACTG2@p.A136T 1 0.466666667 ENSG00000163017 chr2:73909094-73909094;G/A missense_variant False ACTG1@p.S348L 1 0.198473282 ENSG00000184009 chr17:81510775-81510775;G/A missense_variant False ACTG1@p.R210L 1 0.122715405 ENSG00000184009 chr17:81511361-81511361;C/A missense_variant False ACTG1@p.R196Q 1 0.426470588 ENSG00000184009 chr17:81511403-81511403;C/T missense_variant False ACTG1@p.K315E 1 0.364485981 ENSG00000184009 chr17:81510968-81510968;T/C missense_variant False ACTL6A@p.E241D 1 0.322222222 ENSG00000136518 chr3:179576868-179576868;G/C missense_variant False ACTG1@p.G156A 1 0.090909091 ENSG00000184009 chr17:81511523-81511523;C/G missense_variant False ACTG1@p.F352S 1 0.162162162 ENSG00000184009 chr17:81510763-81510763;A/G missense_variant False ACTG1@p.F262L 1 0.185840708 ENSG00000184009 chr17:81511204-81511204;G/T missense_variant False ACTG1@p.E57K 1 0.654320988 ENSG00000184009 chr17:81512097-81512097;C/T missense_variant False ACTG1@p.E253V 1 0.051282051 ENSG00000184009 chr17:81511232-81511232;T/A missense_variant False ACTG1@p.D11N 1 0.46835443 ENSG00000184009 chr17:81512324-81512324;C/T missense_variant False ACTL6A@p.E124Q 1 0.358208955 ENSG00000136518 chr3:179573461-179573461;G/C missense_variant False ACTL6A@p.H286Y 1 0.14953271 ENSG00000136518 chr3:179580919-179580919;C/T missense_variant False ACKR1@p.E9Q 1 0.05625 ENSG00000213088 chr1:159205464-159205464;G/C missense_variant False ACTL6B@p.M219V 1 0.294117647 ENSG00000077080 chr7:100648570-100648570;T/C missense_variant False ACTL7B@p.R135H 1 0.644444444 ENSG00000148156 chr9:108855527-108855527;C/T missense_variant False ACTL7B@p.G286V 1 0.134831461 ENSG00000148156 chr9:108855074-108855074;C/A missense_variant False ACTL7B@p.D55Efs*47 1 0.128205128 ENSG00000148156 chr9:108855766-108855767;-/T frameshift_variant False ACTL7B@p.A13S 1 0.068376068 ENSG00000148156 chr9:108855894-108855894;C/A missense_variant False ACTL7A@p.P162L 1 0.607142857 ENSG00000187003 chr9:108862807-108862807;C/T missense_variant False ACTL7A@p.A27V 1 0.43697479 ENSG00000187003 chr9:108862402-108862402;C/T missense_variant False ACTL6B@p.K236N 1 0.4 ENSG00000077080 chr7:100647495-100647495;C/G missense_variant False ACTL6A@p.K379T 1 0.459016393 ENSG00000136518 chr3:179586559-179586559;A/C missense_variant False ACTL6B@p.I99Nfs*13 1 0.243902439 ENSG00000077080 chr7:100655092-100655093;-/T frameshift_variant False ACTL6B@p.E59Q 1 0.273584906 ENSG00000077080 chr7:100655514-100655514;C/G missense_variant False ACTL6B@p.D336N 1 0.111111111 ENSG00000077080 chr7:100646762-100646762;C/T missense_variant False ACTL6A@p.S165C 1 0.277777778 ENSG00000136518 chr3:179576234-179576234;C/G missense_variant False ACTL6A@p.P373S 1 0.098039216 ENSG00000136518 chr3:179583443-179583443;C/T missense_variant False ACTL6A@p.L197V 1 0.209090909 ENSG00000136518 chr3:179576637-179576637;C/G missense_variant False ACTC1@p.V211A 1 0.565217391 ENSG00000159251 chr15:34792266-34792266;A/G missense_variant False ACTC1@p.D313H 1 0.344262295 ENSG00000159251 chr15:34791167-34791167;C/G missense_variant False ACTBL2@p.E365K 1 0.913580247 ENSG00000169067 chr5:57481615-57481615;C/T missense_variant False ACSS3@p.L160F 1 0.097560976 ENSG00000111058 chr12:81134839-81134839;G/C missense_variant False ACTA2@p.D246H 1 0.178571429 ENSG00000107796 chr10:88939579-88939579;C/G missense_variant False ACTA1@p.S236Y 1 0.25 ENSG00000143632 chr1:229432095-229432095;G/T missense_variant False ACTA1@p.R258C 1 0.2 ENSG00000143632 chr1:229432030-229432030;G/A missense_variant False ACTA1@p.I214M 1 0.566666667 ENSG00000143632 chr1:229432160-229432160;G/C missense_variant False ACSS3@p.P287S 1 0.109756098 ENSG00000111058 chr12:81143185-81143185;C/T missense_variant False ACSS3@p.L330V 1 0.309090909 ENSG00000111058 chr12:81151910-81151910;C/G missense_variant False ACSS3@p.G47R 1 0.192307692 ENSG00000111058 chr12:81078259-81078259;G/C missense_variant False ACTB@p.V209L 1 0.094339623 ENSG00000075624 chr7:5528458-5528458;C/G missense_variant False ACSS3@p.E613Q 1 0.776470588 ENSG00000111058 chr12:81253512-81253512;G/C missense_variant False ACSS3@p.D169G 1 0.490909091 ENSG00000111058 chr12:81134865-81134865;A/G missense_variant False ACSS3@p.C113Y 1 0.58 ENSG00000111058 chr12:81109586-81109586;G/A missense_variant False ACSS3@p.A396T 1 0.21875 ENSG00000111058 chr12:81174875-81174875;G/A missense_variant False ACSS2@p.V454I 1 0.37037037 ENSG00000131069 chr20:34921412-34921412;G/A missense_variant False ACSS2@p.E507K 1 0.114845938 ENSG00000131069 chr20:34921837-34921837;G/A missense_variant False ACTA2@p.E336K 1 0.76744186 ENSG00000107796 chr10:88935351-88935351;C/T missense_variant False ACTA2@p.L180V 1 0.15942029 ENSG00000107796 chr10:88941307-88941307;G/C missense_variant False ACTA2@p.L322V 1 0.213114754 ENSG00000107796 chr10:88938087-88938087;G/C missense_variant False ACTA2@p.P114S 1 0.222222222 ENSG00000107796 chr10:88943826-88943826;G/A missense_variant False ACTA2@p.S157F 1 0.083333333 ENSG00000107796 chr10:88941375-88941375;G/A missense_variant False ACTA2@p.T279N 1 0.115044248 ENSG00000107796 chr10:88938215-88938215;G/T missense_variant False ACTB@p.E195K 1 0.264150943 ENSG00000075624 chr7:5528500-5528500;C/T missense_variant False ACTB@p.E226D 1 0.105263158 ENSG00000075624 chr7:5528405-5528405;C/G missense_variant False ACTB@p.E93Q 1 0.045454545 ENSG00000075624 chr7:5529247-5529247;C/G missense_variant False ACTB@p.F21L 1 0.219512195 ENSG00000075624 chr7:5529595-5529595;G/T missense_variant False ACTB@p.K315del 1 0.248322148 ENSG00000075624 chr7:5528043-5528045;CTT/- inframe_deletion False ACTB@p.L110Pfs*16 1 0.325581395 ENSG00000075624 chr7:5529195-5529196;-/G frameshift_variant False ACTB@p.R147S 1 0.248447205 ENSG00000075624 chr7:5528644-5528644;G/T missense_variant False ACTB@p.R196C 1 0.397590361 ENSG00000075624 chr7:5528497-5528497;G/A missense_variant False ACTB@p.S281C 1 0.121527778 ENSG00000075624 chr7:5528146-5528146;G/C missense_variant False ACTB@p.S348L 1 0.142857143 ENSG00000075624 chr7:5527833-5527833;G/A missense_variant False ACTB@p.S348W 1 0.191919192 ENSG00000075624 chr7:5527833-5527833;G/C missense_variant False ACTL7B@p.V79M 1 0.589285714 ENSG00000148156 chr9:108855696-108855696;C/T missense_variant False ACTL8@p.A109V 1 0.470588235 ENSG00000117148 chr1:17823334-17823334;C/T missense_variant False ACTL8@p.L218P 1 0.29787234 ENSG00000117148 chr1:17826071-17826071;T/C missense_variant False ACTR3@p.D64Y 1 0.710526316 ENSG00000115091 chr2:113916973-113916973;G/T missense_variant False ACTR5@p.I347L 1 0.298245614 ENSG00000101442 chr20:38755902-38755902;A/T missense_variant False ACTR5@p.E314K 1 0.382978723 ENSG00000101442 chr20:38755121-38755121;G/A missense_variant False ACTR3B@p.Y21H 1 0.091324201 ENSG00000133627 chr7:152783203-152783203;T/C missense_variant False ACTR3B@p.G23S 1 0.107526882 ENSG00000133627 chr7:152783209-152783209;G/A missense_variant False ACTR3B@p.D338N 1 0.338461538 ENSG00000133627 chr7:152852186-152852186;G/A missense_variant False ACTR3@p.I363V 1 0.093333333 ENSG00000115091 chr2:113955632-113955632;A/G missense_variant False ACTR2@p.Y192S 1 0.25 ENSG00000138071 chr2:65253854-65253854;A/C missense_variant False ACTR10@p.S414F 1 0.329113924 ENSG00000131966 chr14:58234538-58234538;C/T missense_variant False ACTR2@p.V47M 1 0.675213675 ENSG00000138071 chr2:65239942-65239942;G/A missense_variant False ACTR1B@p.E210K 1 0.205128205 ENSG00000115073 chr2:97658456-97658456;C/T missense_variant False ACTR1B@p.E126K 1 0.425120773 ENSG00000115073 chr2:97658943-97658943;C/T missense_variant False ACTR1A@p.S140C 1 0.144329897 ENSG00000138107 chr10:102485630-102485630;G/C missense_variant False ACTR1A@p.R255Q 1 0.19047619 ENSG00000138107 chr10:102482162-102482162;C/T missense_variant False ACTR1A@p.R199H 1 0.381578947 ENSG00000138107 chr10:102484221-102484221;C/T missense_variant False ACTR6@p.E254K 1 0.119402985 ENSG00000075089 chr12:100218424-100218424;G/A missense_variant False ACTR8@p.E452Q 1 0.188888889 ENSG00000113812 chr3:53871445-53871445;C/G missense_variant False ACTR8@p.E618Q 1 0.163636364 ENSG00000113812 chr3:53868742-53868742;C/G missense_variant False ACTR8@p.H352D 1 0.283018868 ENSG00000113812 chr3:53874222-53874222;G/C missense_variant False ACTR8@p.Q366H 1 0.25 ENSG00000113812 chr3:53873095-53873095;C/G missense_variant False ACTR8@p.R324Q 1 0.507692308 ENSG00000113812 chr3:53874305-53874305;C/T missense_variant False ACTR8@p.S123Y 1 0.432773109 ENSG00000113812 chr3:53878394-53878394;G/T missense_variant False ACTR8@p.S358F 1 0.44 ENSG00000113812 chr3:53873120-53873120;G/A missense_variant False ACTRT1@p.M85I 1 0.745 ENSG00000123165 chrX:128051952-128051952;C/A missense_variant False ACTRT2@p.E261D 1 0.342857143 ENSG00000169717 chr1:3022469-3022469;G/T missense_variant False ACTRT2@p.K218Q 1 0.421686747 ENSG00000169717 chr1:3022338-3022338;A/C missense_variant False ACTRT2@p.L351V 1 0.155080214 ENSG00000169717 chr1:3022737-3022737;C/G missense_variant False ACTRT2@p.S48L 1 0.295454545 ENSG00000169717 chr1:3021829-3021829;C/T missense_variant False ACTRT3@p.A357T 1 0.057971014 ENSG00000184378 chr3:169767482-169767482;C/T missense_variant False ACTRT3@p.L199F 1 0.072992701 ENSG00000184378 chr3:169767954-169767954;C/G missense_variant False ACTRT3@p.R25Q 1 0.46875 ENSG00000184378 chr3:169769447-169769447;C/T missense_variant False ACVR1@p.E45K 1 0.130434783 ENSG00000115170 chr2:157780535-157780535;C/T missense_variant False ACTR1A@p.E277K 1 0.267515924 ENSG00000138107 chr10:102482097-102482097;C/T missense_variant False ACTR10@p.R107C 1 0.32967033 ENSG00000131966 chr14:58209084-58209084;C/T missense_variant False ACTL8@p.S126L 1 0.19047619 ENSG00000117148 chr1:17825795-17825795;C/T missense_variant False ACTN1@p.M796L 1 0.256410256 ENSG00000072110 chr14:68877216-68877216;T/A missense_variant False ACTN2@p.I21M 1 0.322580645 ENSG00000077522 chr1:236686736-236686736;C/G missense_variant False ACTN2@p.H712N 1 0.296774194 ENSG00000077522 chr1:236755178-236755178;C/A missense_variant False ACTN2@p.H518Y 1 0.875 ENSG00000077522 chr1:236749160-236749160;C/T missense_variant False ACTN2@p.E260K 1 0.634146341 ENSG00000077522 chr1:236735715-236735715;G/A missense_variant False ACTN1@p.V301L 1 0.104761905 ENSG00000072110 chr14:68892238-68892238;C/G missense_variant False ACTN1@p.S250C 1 0.241758242 ENSG00000072110 chr14:68902490-68902490;G/C missense_variant False ACTN1@p.E57K 1 0.155172414 ENSG00000072110 chr14:68925609-68925609;C/T missense_variant False ACTR10@p.L390F 1 0.532374101 ENSG00000131966 chr14:58234465-58234465;C/T missense_variant False ACTN1@p.E113K 1 0.212765957 ENSG00000072110 chr14:68921009-68921009;C/T missense_variant False ACTL9@p.Q210R 1 0.137254902 ENSG00000181786 chr19:8698073-8698073;T/C missense_variant False ACTL9@p.L310Afs*120 1 0.253012048 ENSG00000181786 chr19:8697774-8697775;-/C frameshift_variant False ACTL9@p.G240S 1 0.242424242 ENSG00000181786 chr19:8697984-8697984;C/T missense_variant False ACTL9@p.F97S 1 0.3125 ENSG00000181786 chr19:8698412-8698412;A/G missense_variant False ACTL8@p.S126W 1 0.375 ENSG00000117148 chr1:17825795-17825795;C/G missense_variant False ACTN2@p.L74M 1 0.227272727 ENSG00000077522 chr1:236717951-236717951;C/A missense_variant False ACTN3@p.D437H 1 0.142857143 ENSG00000248746 chr11:66559268-66559268;G/C missense_variant False ACTN3@p.E836Q 1 0.066666667 ENSG00000248746 chr11:66562913-66562913;G/C missense_variant False ACTN3@p.L355V 1 0.047619048 ENSG00000248746 chr11:66557864-66557864;C/G missense_variant False ACTN3@p.M253I 1 0.1875 ENSG00000248746 chr11:66556185-66556185;G/A missense_variant False ACTN3@p.M99T 1 0.448275862 ENSG00000248746 chr11:66551561-66551561;T/C missense_variant False ACTN3@p.R100C 1 0.363636364 ENSG00000248746 chr11:66551563-66551563;C/T missense_variant False ACTN3@p.R331W 1 0.378378378 ENSG00000248746 chr11:66557792-66557792;C/T missense_variant False ACTN4@p.D236N 1 0.162601626 ENSG00000130402 chr19:38709449-38709449;G/A missense_variant False ACTN4@p.D571Y 1 0.192982456 ENSG00000130402 chr19:38724175-38724175;G/T missense_variant False ACTN4@p.E865Q 1 0.377777778 ENSG00000130402 chr19:38729289-38729289;G/C missense_variant False ACTN4@p.G894D 1 0.189655172 ENSG00000130402 chr19:38729377-38729377;G/A missense_variant False ACTN4@p.H781Y 1 0.243589744 ENSG00000130402 chr19:38727949-38727949;C/T missense_variant False ACTN4@p.R469C 1 0.333333333 ENSG00000130402 chr19:38721651-38721651;C/T missense_variant False ACTN4@p.S621Y 1 0.4 ENSG00000130402 chr19:38724326-38724326;C/A missense_variant False ACTN4@p.S851F 1 0.110091743 ENSG00000130402 chr19:38729129-38729129;C/T missense_variant False ACTN4@p.S902C 1 0.255319149 ENSG00000130402 chr19:38729401-38729401;C/G missense_variant False ACSS1@p.S494F 1 0.21875 ENSG00000154930 chr20:25013634-25013634;G/A missense_variant False ACSS1@p.F522L 1 0.103448276 ENSG00000154930 chr20:25013551-25013551;A/G missense_variant False ACSS1@p.E68K 1 0.222222222 ENSG00000154930 chr20:25057901-25057901;C/T missense_variant False ACOT8@p.S79F 1 0.56122449 ENSG00000101473 chr20:45855185-45855185;G/A missense_variant False ACOX2@p.F85L 1 0.136363636 ENSG00000168306 chr3:58534428-58534428;G/T missense_variant False ACOX2@p.E530K 1 0.241071429 ENSG00000168306 chr3:58522540-58522540;C/T missense_variant False ACOX1@p.L51F 1 0.438356164 ENSG00000161533 chr17:75978650-75978650;C/G missense_variant False ACOX1@p.E481K 1 0.121212121 ENSG00000161533 chr17:75949755-75949755;C/T missense_variant False ACOX1@p.E421Lfs*8 1 0.32967033 ENSG00000161533 chr17:75950811-75950812;-/AA frameshift_variant False ACOT9@p.D119V 1 0.587155963 ENSG00000123130 chrX:23730544-23730544;T/A missense_variant False ACOT8@p.E155Q 1 0.137078652 ENSG00000101473 chr20:45848475-45848475;C/G missense_variant False ACOT2@p.M262V 1 0.183908046 ENSG00000119673 chr14:73573528-73573528;A/G missense_variant False ACOT7@p.R183W 1 0.391304348 ENSG00000097021 chr1:6327407-6327407;G/A missense_variant False ACOT7@p.P50R 1 0.364312268 ENSG00000097021 chr1:6385518-6385518;G/C missense_variant False ACOT7@p.H281Y 1 0.290322581 ENSG00000097021 chr1:6294882-6294882;G/A missense_variant False ACOT6@p.Q122E 1 0.378378378 ENSG00000205669 chr14:73619579-73619579;C/G missense_variant False ACOT4@p.Q401R 1 0.104761905 ENSG00000177465 chr14:73595590-73595590;A/G missense_variant False ACOT4@p.I362M 1 0.346153846 ENSG00000177465 chr14:73595474-73595474;C/G missense_variant False ACOX2@p.K244N 1 0.358974359 ENSG00000168306 chr3:58531338-58531338;C/G missense_variant False ACOX2@p.K346Nfs*31 1 0.137931034 ENSG00000168306 chr3:58528911-58528911;T/- frameshift_variant False ACOX2@p.L129M 1 0.151260504 ENSG00000168306 chr3:58534084-58534084;G/T missense_variant False ACOX2@p.R101H 1 0.1328125 ENSG00000168306 chr3:58534381-58534381;C/T missense_variant False ACOX2@p.R318C 1 0.266666667 ENSG00000168306 chr3:58530506-58530506;G/A missense_variant False ACOX2@p.T175N 1 0.063492063 ENSG00000168306 chr3:58533504-58533504;G/T missense_variant False ACOX3@p.A118S 1 0.175 ENSG00000087008 chr4:8415792-8415792;C/A missense_variant False ACOX3@p.D636N 1 0.333333333 ENSG00000087008 chr4:8370985-8370985;C/T missense_variant False ACOX3@p.E341K 1 0.246376812 ENSG00000087008 chr4:8396972-8396972;C/T missense_variant False ACOX3@p.F86L 1 0.276595745 ENSG00000087008 chr4:8415886-8415886;G/C missense_variant False ACOX3@p.I185T 1 0.617021277 ENSG00000087008 chr4:8410345-8410345;A/G missense_variant False ACOX3@p.P358S 1 0.079787234 ENSG00000087008 chr4:8394727-8394727;G/A missense_variant False ACOXL@p.E317K 1 0.101449275 ENSG00000153093 chr2:110933532-110933532;G/A missense_variant False ACOXL@p.N229S 1 0.246031746 ENSG00000153093 chr2:110805328-110805328;A/G missense_variant False ACP1@p.S8Y 1 0.053278689 ENSG00000143727 chr2:264987-264987;C/A missense_variant False ACP2@p.C310W 1 0.183673469 ENSG00000134575 chr11:47243050-47243050;G/C missense_variant False ACP3@p.D151Y 1 0.206896552 ENSG00000014257 chr3:132332339-132332339;G/T missense_variant False ACOT2@p.R29G 1 0.524193548 ENSG00000119673 chr14:73569325-73569325;C/G missense_variant False ACOT2@p.E263Q 1 0.366863905 ENSG00000119673 chr14:73573531-73573531;G/C missense_variant False ACP3@p.G305R 1 0.526315789 ENSG00000014257 chr3:132352768-132352768;G/A missense_variant False ACLY@p.R33G 1 0.446280992 ENSG00000131473 chr17:41913777-41913777;G/C missense_variant False ACO1@p.K886N 1 0.315068493 ENSG00000122729 chr9:32450099-32450099;G/C missense_variant False ACO1@p.G534E 1 0.183908046 ENSG00000122729 chr9:32430449-32430449;G/A missense_variant False ACO1@p.E705Q 1 0.375 ENSG00000122729 chr9:32436263-32436263;G/C missense_variant False ACO1@p.D96H 1 0.461538462 ENSG00000122729 chr9:32408533-32408533;G/C missense_variant False ACO1@p.D418N 1 0.183486239 ENSG00000122729 chr9:32425901-32425901;G/A missense_variant False ACLY@p.S1016L 1 0.3 ENSG00000131473 chr17:41869478-41869478;G/A missense_variant False ACLY@p.I375S 1 0.53 ENSG00000131473 chr17:41901755-41901755;A/C missense_variant False ACOT1@p.E126K 1 0.384615385 ENSG00000184227 chr14:73537797-73537797;G/A missense_variant False ACLY@p.I1022M 1 0.047337278 ENSG00000131473 chr17:41869111-41869111;G/C missense_variant False ACLY@p.H332L 1 0.347222222 ENSG00000131473 chr17:41905530-41905530;T/A missense_variant False ACLY@p.E8K 1 0.251655629 ENSG00000131473 chr17:41913852-41913852;C/T missense_variant False ACKR4@p.S8L 1 0.321428571 ENSG00000129048 chr3:132600420-132600420;C/T missense_variant False ACKR4@p.A57T 1 0.46 ENSG00000129048 chr3:132600566-132600566;G/A missense_variant False ACKR1@p.R313C 1 0.064189189 ENSG00000213088 chr1:159206376-159206376;C/T missense_variant False ACO2@p.E363K 1 0.375 ENSG00000100412 chr22:41520225-41520225;G/A missense_variant False ACO2@p.E369K 1 0.5 ENSG00000100412 chr22:41520243-41520243;G/A missense_variant False ACO2@p.L15V 1 0.224299065 ENSG00000100412 chr22:41499732-41499732;C/G missense_variant False ACO2@p.R312G 1 0.25 ENSG00000100412 chr22:41517625-41517625;C/G missense_variant False ACO2@p.S396T 1 0.185185185 ENSG00000100412 chr22:41522877-41522877;T/A missense_variant False ACOT11@p.A29V 1 0.395061728 ENSG00000162390 chr1:54584707-54584707;C/T missense_variant False ACOT11@p.D499N 1 0.146341463 ENSG00000162390 chr1:54607258-54607258;G/A missense_variant False ACOT11@p.E310K 1 0.311688312 ENSG00000162390 chr1:54601312-54601312;G/A missense_variant False ACOT11@p.E467K 1 0.214285714 ENSG00000162390 chr1:54607162-54607162;G/A missense_variant False ACOT11@p.E82D 1 0.104166667 ENSG00000162390 chr1:54585839-54585839;G/C missense_variant False ACOT11@p.V302M 1 0.139534884 ENSG00000162390 chr1:54601288-54601288;G/A missense_variant False ACOT12@p.E44V 1 0.115384615 ENSG00000172497 chr5:81385823-81385823;T/A missense_variant False ACOT12@p.E62Q 1 0.32 ENSG00000172497 chr5:81385770-81385770;C/G missense_variant False ACOT12@p.H437Y 1 0.142857143 ENSG00000172497 chr5:81332559-81332559;G/A missense_variant False ACOT12@p.Q256E 1 0.264705882 ENSG00000172497 chr5:81345892-81345892;G/C missense_variant False ACOT12@p.R405H 1 0.156862745 ENSG00000172497 chr5:81335816-81335816;C/T missense_variant False ACOT13@p.E22D 1 0.311111111 ENSG00000112304 chr6:24667329-24667329;G/C missense_variant False ACP3@p.E229K 1 0.174757282 ENSG00000014257 chr3:132344963-132344963;G/A missense_variant False ACP3@p.Q276H 1 0.126436782 ENSG00000014257 chr3:132349966-132349966;G/C missense_variant False ACSS1@p.E286K 1 0.461538462 ENSG00000154930 chr20:25023044-25023044;C/T missense_variant False ACSL5@p.R222T 1 0.181818182 ENSG00000197142 chr10:112409639-112409639;G/C missense_variant False ACSM2A@p.L64F 1 0.513513514 ENSG00000183747 chr16:20465529-20465529;C/T missense_variant False ACSM2A@p.E407K 1 0.298701299 ENSG00000183747 chr16:20478615-20478615;G/A missense_variant False ACSM2A@p.E118Q 1 0.163043478 ENSG00000183747 chr16:20465691-20465691;G/C missense_variant False ACSM2A@p.A215T 1 0.209302326 ENSG00000183747 chr16:20471119-20471119;G/A missense_variant False ACSL6@p.A435V 1 0.851851852 ENSG00000164398 chr5:131971605-131971605;G/A missense_variant False ACSL5@p.T449I 1 0.162790698 ENSG00000197142 chr10:112421624-112421624;C/T missense_variant False ACSL5@p.E229K 1 0.185430464 ENSG00000197142 chr10:112409659-112409659;G/A missense_variant False ACSF3@p.Y355C 1 0.198019802 ENSG00000176715 chr16:89114425-89114425;A/G missense_variant False ACSL5@p.D591H 1 0.485714286 ENSG00000197142 chr10:112426291-112426291;G/C missense_variant False ACSL4@p.G317D 1 0.247863248 ENSG00000068366 chrX:109678091-109678091;C/T missense_variant False ACSL4@p.E535Q 1 0.094202899 ENSG00000068366 chrX:109663313-109663313;C/G missense_variant False ACSL3@p.L529V 1 0.304347826 ENSG00000123983 chr2:222930665-222930665;C/G missense_variant False ACSL3@p.A599T 1 0.355555556 ENSG00000123983 chr2:222933228-222933228;G/A missense_variant False ACSL1@p.V480A 1 0.379310345 ENSG00000151726 chr4:184763249-184763249;A/G missense_variant False ACSM2A@p.S48G 1 0.295454545 ENSG00000183747 chr16:20460256-20460256;A/G missense_variant False ACSM2B@p.A242S 1 0.253333333 ENSG00000066813 chr16:20553793-20553793;C/A missense_variant False ACSM2B@p.K241N 1 0.263157895 ENSG00000066813 chr16:20553794-20553794;C/A missense_variant False ACSM2B@p.R560Q 1 0.435146444 ENSG00000066813 chr16:20537313-20537313;C/T missense_variant False ACSM2B@p.S476W 1 0.383838384 ENSG00000066813 chr16:20542996-20542996;G/C missense_variant False ACSM2B@p.S571F 1 0.258064516 ENSG00000066813 chr16:20537280-20537280;G/A missense_variant False ACSM3@p.E505Q 1 0.143302181 ENSG00000005187 chr16:20792294-20792294;G/C missense_variant False ACSM3@p.F50L 1 0.112903226 ENSG00000005187 chr16:20770184-20770184;C/A missense_variant False ACSM3@p.S450L 1 0.348484848 ENSG00000005187 chr16:20792024-20792024;C/T missense_variant False ACSM4@p.G346R 1 0.343283582 ENSG00000215009 chr12:7322452-7322452;G/A missense_variant False ACSM4@p.I567M 1 0.857142857 ENSG00000215009 chr12:7328331-7328331;C/G missense_variant False ACSM4@p.S500L 1 0.268292683 ENSG00000215009 chr12:7324561-7324561;C/T missense_variant False ACSM5@p.A490S 1 0.12 ENSG00000183549 chr16:20437299-20437299;G/T missense_variant False ACSM5@p.E241Q 1 0.25 ENSG00000183549 chr16:20421355-20421355;G/C missense_variant False ACSM5@p.Q148E 1 0.131578947 ENSG00000183549 chr16:20419254-20419254;C/G missense_variant False ACSM5@p.R65W 1 0.333333333 ENSG00000183549 chr16:20411677-20411677;C/T missense_variant False ACSM5@p.S391F 1 0.266666667 ENSG00000183549 chr16:20431039-20431039;C/T missense_variant False ACSL1@p.E505K 1 0.28125 ENSG00000151726 chr4:184763175-184763175;C/T missense_variant False ACSF3@p.S79F 1 0.243697479 ENSG00000176715 chr16:89100917-89100917;C/T missense_variant False ACP3@p.S174L 1 0.825 ENSG00000014257 chr3:132337520-132337520;C/T missense_variant False ACP5@p.S118F 1 0.245810056 ENSG00000102575 chr19:11576752-11576752;G/A missense_variant False ACSBG1@p.R29Q 1 0.379310345 ENSG00000103740 chr15:78234416-78234416;C/T missense_variant False ACSBG1@p.F718C 1 0.170212766 ENSG00000103740 chr15:78171466-78171466;A/C missense_variant False ACRV1@p.S115L 1 0.054726368 ENSG00000134940 chr11:125678006-125678006;G/A missense_variant False ACRBP@p.P265T 1 0.46031746 ENSG00000111644 chr12:6644288-6644288;G/T missense_variant False ACRBP@p.E463Q 1 0.168674699 ENSG00000111644 chr12:6640098-6640098;C/G missense_variant False ACR@p.S153L 1 0.242718447 ENSG00000100312 chr22:50739870-50739870;C/T missense_variant False ACP5@p.R85T 1 0.210526316 ENSG00000102575 chr19:11577064-11577064;C/G missense_variant False ACSF3@p.S473L 1 0.294117647 ENSG00000176715 chr16:89145318-89145318;C/T missense_variant False ACP5@p.R196M 1 0.307692308 ENSG00000102575 chr19:11576391-11576391;C/A missense_variant False ACP5@p.E91Q 1 0.520661157 ENSG00000102575 chr19:11576834-11576834;C/G missense_variant False ACP5@p.E301D 1 0.142857143 ENSG00000102575 chr19:11575085-11575085;C/G missense_variant False ACP5@p.E173Q 1 0.464285714 ENSG00000102575 chr19:11576461-11576461;C/G missense_variant False ACP5@p.D20N 1 0.222222222 ENSG00000102575 chr19:11577260-11577260;C/T missense_variant False ACP4@p.D327H 1 0.289473684 ENSG00000142513 chr19:50794574-50794574;G/C missense_variant False ACSBG1@p.Y336C 1 0.526315789 ENSG00000103740 chr15:78182033-78182033;T/C missense_variant False ACSBG2@p.A277S 1 0.411764706 ENSG00000130377 chr19:6177319-6177319;G/T missense_variant False ACSBG2@p.E311K 1 0.166666667 ENSG00000130377 chr19:6182775-6182775;G/A missense_variant False ACSBG2@p.F317L 1 0.276595745 ENSG00000130377 chr19:6182795-6182795;C/A missense_variant False ACSBG2@p.G10A 1 0.489361702 ENSG00000130377 chr19:6141572-6141572;G/C missense_variant False ACSBG2@p.I283M 1 0.181818182 ENSG00000130377 chr19:6177339-6177339;C/G missense_variant False ACSBG2@p.Q183K 1 0.264705882 ENSG00000130377 chr19:6161254-6161254;C/A missense_variant False ACSF2@p.E481K 1 0.339285714 ENSG00000167107 chr17:50472545-50472545;G/A missense_variant False ACSF2@p.I520M 1 0.097560976 ENSG00000167107 chr17:50473749-50473749;C/G missense_variant False ACSF2@p.L323V 1 0.432432432 ENSG00000167107 chr17:50463473-50463473;C/G missense_variant False ACSF2@p.Q180H 1 0.385714286 ENSG00000167107 chr17:50462216-50462216;A/C missense_variant False ACSF2@p.R435I 1 0.448979592 ENSG00000167107 chr17:50471116-50471116;G/T missense_variant False ACSF2@p.R84K 1 0.15625 ENSG00000167107 chr17:50460799-50460799;G/A missense_variant False ACSF3@p.E397K 1 0.108033241 ENSG00000176715 chr16:89120863-89120863;G/A missense_variant False ACSF3@p.F47L 1 0.155844156 ENSG00000176715 chr16:89100822-89100822;C/G missense_variant False ACSF3@p.I477M 1 0.184210526 ENSG00000176715 chr16:89145331-89145331;C/G missense_variant False ACSF3@p.S144F 1 0.596153846 ENSG00000176715 chr16:89101112-89101112;C/T missense_variant False ABL2@p.L934F 1 0.522727273 ENSG00000143322 chr1:179108467-179108467;G/A missense_variant False ABL2@p.D528N 1 0.5 ENSG00000143322 chr1:179112378-179112378;C/T missense_variant False ACVR1@p.G88V 1 0.639705882 ENSG00000115170 chr2:157780405-157780405;C/A missense_variant False ABCA3@p.P1050A 1 0.044117647 ENSG00000167972 chr16:2286824-2286824;G/C missense_variant False ABCA4@p.E1666K 1 0.22556391 ENSG00000198691 chr1:94021262-94021262;C/T missense_variant False ABCA4@p.E1650K 1 0.169230769 ENSG00000198691 chr1:94021310-94021310;C/T missense_variant False ABCA4@p.D2257Y 1 0.166666667 ENSG00000198691 chr1:93996156-93996156;C/A missense_variant False ABCA4@p.D175N 1 0.100961538 ENSG00000198691 chr1:94103062-94103062;C/T missense_variant False ABCA3@p.Y57C 1 0.229166667 ENSG00000167972 chr16:2326159-2326159;T/C missense_variant False ABCA3@p.V549F 1 0.662650602 ENSG00000167972 chr16:2299499-2299499;C/A missense_variant False ABCA3@p.H141Y 1 0.333333333 ENSG00000167972 chr16:2324430-2324430;G/A missense_variant False ABCA4@p.G194A 1 0.263157895 ENSG00000198691 chr1:94098981-94098981;C/G missense_variant False ABCA3@p.E471Q 1 0.384615385 ENSG00000167972 chr16:2304025-2304025;C/G missense_variant False ABCA3@p.D1465H 1 0.358974359 ENSG00000167972 chr16:2279097-2279097;C/G missense_variant False ABCA2@p.R1477H 1 0.307692308 ENSG00000107331 chr9:137013939-137013939;C/T missense_variant False ABCA2@p.R1132T 1 0.4 ENSG00000107331 chr9:137015974-137015974;C/G missense_variant False ABCA2@p.M737I 1 0.675675676 ENSG00000107331 chr9:137017877-137017877;C/G missense_variant False ABCA2@p.K1788E 1 0.3 ENSG00000107331 chr9:137012292-137012292;T/C missense_variant False ABCA4@p.F135L 1 0.352112676 ENSG00000198691 chr1:94108614-94108614;G/T missense_variant False ABCA4@p.L2260V 1 0.240740741 ENSG00000198691 chr1:93996147-93996147;G/C missense_variant False ABCB5@p.E568D 1 0.382978723 ENSG00000004846 chr7:20658673-20658673;G/T missense_variant False ABCA5@p.L656I 1 0.473684211 ENSG00000154265 chr17:69287688-69287688;G/T missense_variant False ABCA6@p.E1588Q 1 0.458333333 ENSG00000154262 chr17:69079065-69079065;C/G missense_variant False ABCA6@p.D151H 1 0.107142857 ENSG00000154262 chr17:69136101-69136101;C/G missense_variant False ABCA6@p.A1392T 1 0.388888889 ENSG00000154262 chr17:69085038-69085038;C/T missense_variant False ABCA5@p.S687L 1 0.12 ENSG00000154265 chr17:69286293-69286293;G/A missense_variant False ABCA5@p.M844I 1 0.391304348 ENSG00000154265 chr17:69277703-69277703;C/T missense_variant False ABCA5@p.L826V 1 0.375 ENSG00000154265 chr17:69277759-69277759;G/C missense_variant False ABCA5@p.I607M 1 0.269230769 ENSG00000154265 chr17:69289258-69289258;G/C missense_variant False ABCA4@p.L750M 1 0.380952381 ENSG00000198691 chr1:94056735-94056735;G/T missense_variant False ABCA5@p.G491V 1 0.26 ENSG00000154265 chr17:69294678-69294678;C/A missense_variant False ABCA5@p.G1403A 1 0.036764706 ENSG00000154265 chr17:69254351-69254351;C/G missense_variant False ABCA5@p.A1123V 1 0.275 ENSG00000154265 chr17:69261696-69261696;G/A missense_variant False ABCA4@p.S34C 1 0.385826772 ENSG00000198691 chr1:94113032-94113032;G/C missense_variant False ABCA4@p.R2263Q 1 0.384615385 ENSG00000198691 chr1:93996137-93996137;C/T missense_variant False ABCA4@p.Q185E 1 0.128787879 ENSG00000198691 chr1:94103032-94103032;G/C missense_variant False ABCA2@p.G38E 1 0.285714286 ENSG00000107331 chr9:137028760-137028760;C/T missense_variant False ABCA2@p.F1323L 1 0.533333333 ENSG00000107331 chr9:137014916-137014916;G/T missense_variant False ABCA2@p.E2400Q 1 0.461538462 ENSG00000107331 chr9:137008583-137008583;C/G missense_variant False ABCA13@p.P4300S 1 0.239583333 ENSG00000179869 chr7:48467038-48467038;C/T missense_variant False ABCA13@p.S3229L 1 0.142857143 ENSG00000179869 chr7:48314236-48314236;C/T missense_variant False ABCA13@p.S232F 1 0.197278912 ENSG00000179869 chr7:48229887-48229887;C/T missense_variant False ABCA13@p.Q423R 1 0.179487179 ENSG00000179869 chr7:48244581-48244581;A/G missense_variant False ABCA13@p.Q1539K 1 0.641025641 ENSG00000179869 chr7:48274281-48274281;C/A missense_variant False ABCA13@p.P862S 1 0.534883721 ENSG00000179869 chr7:48272250-48272250;C/T missense_variant False ABCA13@p.P4883L 1 0.424528302 ENSG00000179869 chr7:48594717-48594717;C/T missense_variant False ABCA13@p.L4668R 1 0.102040816 ENSG00000179869 chr7:48520246-48520246;T/G missense_variant False ABCA2@p.D1718N 1 0.220338983 ENSG00000107331 chr9:137012731-137012731;C/T missense_variant False ABCA13@p.L3427V 1 0.130434783 ENSG00000179869 chr7:48350717-48350717;C/G missense_variant False ABCA13@p.L2466V 1 0.428571429 ENSG00000179869 chr7:48278590-48278590;C/G missense_variant False ABCA13@p.L1448V 1 0.152777778 ENSG00000179869 chr7:48274008-48274008;C/G missense_variant False ABCA13@p.K2530N 1 0.270114943 ENSG00000179869 chr7:48278784-48278784;G/C missense_variant False ABCA13@p.I4483Kfs*22 1 0.193548387 ENSG00000179869 chr7:48507973-48507980;TTGGAGCC/- frameshift_variant False ABCA13@p.I178M 1 0.18134715 ENSG00000179869 chr7:48227327-48227327;C/G missense_variant False ABCA13@p.S3485L 1 0.197183099 ENSG00000179869 chr7:48352253-48352253;C/T missense_variant False ABCA13@p.S4564L 1 0.421383648 ENSG00000179869 chr7:48516775-48516775;C/T missense_variant False ABCA13@p.T989I 1 0.476190476 ENSG00000179869 chr7:48272632-48272632;C/T missense_variant False ABCA1@p.D2157H 1 0.307692308 ENSG00000165029 chr9:104785572-104785572;C/G missense_variant False ABCA1@p.F1956L 1 0.155 ENSG00000165029 chr9:104790981-104790981;G/C missense_variant False ABCA1@p.L2110V 1 0.083333333 ENSG00000165029 chr9:104786371-104786371;G/C missense_variant False ABCA1@p.L322F 1 0.139534884 ENSG00000165029 chr9:104840369-104840369;G/A missense_variant False ABCA1@p.L694F 1 0.391891892 ENSG00000165029 chr9:104828951-104828951;G/A missense_variant False ABCA1@p.M640I 1 0.195121951 ENSG00000165029 chr9:104829111-104829111;C/A missense_variant False ABCA1@p.P1547A 1 0.181818182 ENSG00000165029 chr9:104802113-104802113;G/C missense_variant False ABCA1@p.R1925W 1 0.1875 ENSG00000165029 chr9:104791983-104791983;G/A missense_variant False ABCA1@p.R557Q 1 0.451612903 ENSG00000165029 chr9:104831667-104831667;C/T missense_variant False ABCA1@p.S2182C 1 0.341176471 ENSG00000165029 chr9:104785496-104785496;G/C missense_variant False ABCA1@p.S824L 1 0.666666667 ENSG00000165029 chr9:104825754-104825754;G/A missense_variant False ABCA1@p.T1401I 1 0.22 ENSG00000165029 chr9:104809538-104809538;G/A missense_variant False ABCA2@p.D1108H 1 0.076923077 ENSG00000107331 chr9:137016047-137016047;C/G missense_variant False ABCA2@p.D1185Y 1 0.636363636 ENSG00000107331 chr9:137015726-137015726;C/A missense_variant False ABCA6@p.E1592Q 1 0.176470588 ENSG00000154262 chr17:69079053-69079053;C/G missense_variant False ABCA6@p.E426G 1 0.177777778 ENSG00000154262 chr17:69123398-69123398;T/C missense_variant False ABCA6@p.E466Q 1 0.071428571 ENSG00000154262 chr17:69123279-69123279;C/G missense_variant False ABCB11@p.S1247P 1 0.060869565 ENSG00000073734 chr2:168924683-168924683;A/G missense_variant False ABCB1@p.K681E 1 0.074074074 ENSG00000085563 chr7:87544846-87544846;T/C missense_variant False ABCB1@p.H153Y 1 0.169811321 ENSG00000085563 chr7:87566858-87566858;G/A missense_variant False ABCB1@p.E891K 1 0.157894737 ENSG00000085563 chr7:87531308-87531308;C/T missense_variant False ABCB1@p.D805Y 1 0.1875 ENSG00000085563 chr7:87536526-87536526;C/A missense_variant False ABCB1@p.D805N 1 0.115384615 ENSG00000085563 chr7:87536526-87536526;C/T missense_variant False ABCB1@p.D370H 1 0.258064516 ENSG00000085563 chr7:87550730-87550730;C/G missense_variant False ABCB11@p.R948H 1 0.165137615 ENSG00000073734 chr2:168935397-168935397;C/T missense_variant False ABCA9@p.W24R 1 0.104477612 ENSG00000154258 chr17:69051057-69051057;A/T missense_variant False ABCB11@p.E737K 1 0.25 ENSG00000073734 chr2:168958098-168958098;C/T missense_variant False ABCB11@p.E504K 1 0.333333333 ENSG00000073734 chr2:168971975-168971975;C/T missense_variant False ABCB10@p.R683K 1 0.186046512 ENSG00000135776 chr1:229518348-229518348;C/T missense_variant False ABCB10@p.R471K 1 0.321428571 ENSG00000135776 chr1:229531659-229531659;C/T missense_variant False ABCB10@p.M426I 1 0.248062016 ENSG00000135776 chr1:229539517-229539517;C/T missense_variant False ABCB10@p.E586Q 1 0.035971223 ENSG00000135776 chr1:229526086-229526086;C/G missense_variant False ABCB1@p.Q441R 1 0.4 ENSG00000085563 chr7:87550199-87550199;T/C missense_variant False ABCB1@p.Q914H 1 0.368852459 ENSG00000085563 chr7:87520820-87520820;C/A missense_variant False ABCB1@p.R1085Q 1 0.261904762 ENSG00000085563 chr7:87515259-87515259;C/T missense_variant False ABCB1@p.R1279C 1 0.109756098 ENSG00000085563 chr7:87504251-87504251;G/A missense_variant False ABCB1@p.R148T 1 0.357142857 ENSG00000085563 chr7:87566872-87566872;C/G missense_variant False ABCB1@p.R404Q 1 0.509090909 ENSG00000085563 chr7:87550481-87550481;C/T missense_variant False ABCB4@p.D449N 1 0.242021277 ENSG00000005471 chr7:87443330-87443330;C/T missense_variant False ABCB4@p.E22Q 1 0.12345679 ENSG00000005471 chr7:87475402-87475402;C/G missense_variant False ABCB4@p.G622V 1 0.130434783 ENSG00000005471 chr7:87431432-87431432;C/A missense_variant False ABCB4@p.L1212V 1 0.138047138 ENSG00000005471 chr7:87403155-87403155;G/C missense_variant False ABCB4@p.R361T 1 0.275 ENSG00000005471 chr7:87444899-87444899;C/G missense_variant False ABCB4@p.R549C 1 0.43877551 ENSG00000005471 chr7:87439753-87439753;G/A missense_variant False ABCB4@p.R785K 1 0.222222222 ENSG00000005471 chr7:87420038-87420038;C/T missense_variant False ABCB4@p.S69L 1 0.090909091 ENSG00000005471 chr7:87462838-87462838;G/A missense_variant False ABCB5@p.A803G 1 0.395833333 ENSG00000004846 chr7:20704794-20704794;C/G missense_variant False ABCB5@p.A820T 1 0.097560976 ENSG00000004846 chr7:20723052-20723052;G/A missense_variant False ABCB5@p.D488N 1 0.134615385 ENSG00000004846 chr7:20651549-20651549;G/A missense_variant False ABCB10@p.E370Q 1 0.404494382 ENSG00000135776 chr1:229540701-229540701;C/G missense_variant False ABCA9@p.S1496L 1 0.190140845 ENSG00000154258 chr17:68984068-68984068;G/A missense_variant False ABCA6@p.I128M 1 0.666666667 ENSG00000154262 chr17:69136168-69136168;G/C missense_variant False ABCA7@p.G502S 1 0.303921569 ENSG00000064687 chr19:1046288-1046288;G/A missense_variant False ABCA8@p.G833R 1 0.097560976 ENSG00000141338 chr17:68902860-68902860;C/T missense_variant False ABCA8@p.G345E 1 0.621621622 ENSG00000141338 chr17:68929140-68929140;C/T missense_variant False ABCA8@p.D726H 1 0.351351351 ENSG00000141338 chr17:68906146-68906146;C/G missense_variant False ABCA7@p.R1564Q 1 0.516129032 ENSG00000064687 chr19:1057011-1057011;G/A missense_variant False ABCA7@p.P379L 1 0.138888889 ENSG00000064687 chr19:1044665-1044665;C/T missense_variant False ABCA7@p.L1355Cfs*18 1 0.25 ENSG00000064687 chr19:1055208-1055208;C/- frameshift_variant False ABCA7@p.E222K 1 0.188235294 ENSG00000064687 chr19:1043125-1043125;G/A missense_variant False ABCA9@p.P536A 1 0.241666667 ENSG00000154258 chr17:69028544-69028544;G/C missense_variant False ABCA7@p.E1670Q 1 0.084745763 ENSG00000064687 chr19:1058042-1058042;G/C missense_variant False ABCA6@p.S807L 1 0.241935484 ENSG00000154262 chr17:69106181-69106181;G/A missense_variant False ABCA6@p.R481T 1 0.337837838 ENSG00000154262 chr17:69117951-69117951;C/G missense_variant False ABCA6@p.N688T 1 0.250883392 ENSG00000154262 chr17:69112252-69112252;T/G missense_variant False ABCA6@p.M1217I 1 0.12 ENSG00000154262 chr17:69088214-69088214;C/A missense_variant False ABCA6@p.L657P 1 0.821917808 ENSG00000154262 chr17:69113293-69113293;A/G missense_variant False ABCA8@p.H51Y 1 0.075 ENSG00000141338 chr17:68940908-68940908;G/A missense_variant False ABCA8@p.I46V 1 0.25 ENSG00000141338 chr17:68940923-68940923;T/C missense_variant False ABCA8@p.K148N 1 0.339622642 ENSG00000141338 chr17:68936973-68936973;C/A missense_variant False ABCA8@p.K18N 1 0.483333333 ENSG00000141338 chr17:68941981-68941981;C/A missense_variant False ABCA8@p.K645N 1 0.168316832 ENSG00000141338 chr17:68917444-68917444;T/A missense_variant False ABCA8@p.L830V 1 0.174825175 ENSG00000141338 chr17:68902869-68902869;G/C missense_variant False ABCA8@p.M550T 1 0.190909091 ENSG00000141338 chr17:68919440-68919440;A/G missense_variant False ABCA8@p.R4I 1 0.453125 ENSG00000141338 chr17:68942024-68942024;C/A missense_variant False ABCA8@p.R612T 1 0.172043011 ENSG00000141338 chr17:68918139-68918139;C/G missense_variant False ABCA8@p.S203P 1 0.065693431 ENSG00000141338 chr17:68932478-68932478;A/G missense_variant False ABCA8@p.S290C 1 0.452380952 ENSG00000141338 chr17:68929631-68929631;G/C missense_variant False ABCA9@p.D69N 1 0.138888889 ENSG00000154258 chr17:69049382-69049382;C/T missense_variant False ABCA9@p.E169K 1 0.162162162 ENSG00000154258 chr17:69044565-69044565;C/T missense_variant False ABCA9@p.F228L 1 0.462962963 ENSG00000154258 chr17:69043605-69043605;G/T missense_variant False ABCA9@p.G1132R 1 0.171717172 ENSG00000154258 chr17:69007800-69007800;C/G missense_variant False ABCA9@p.L1444V 1 0.166666667 ENSG00000154258 chr17:68984934-68984934;G/C missense_variant False ABCA9@p.M1520I 1 0.215686275 ENSG00000154258 chr17:68983789-68983789;C/T missense_variant False ABCA13@p.H1599Y 1 0.039408867 ENSG00000179869 chr7:48274461-48274461;C/T missense_variant False ABCA13@p.H1145R 1 0.285714286 ENSG00000179869 chr7:48273100-48273100;A/G missense_variant False ABCA13@p.F877L 1 0.156862745 ENSG00000179869 chr7:48272297-48272297;C/A missense_variant False AADACL4@p.A266T 1 0.2 ENSG00000204518 chr1:12666307-12666307;G/A missense_variant False AADAT@p.E66Q 1 0.304347826 ENSG00000109576 chr4:170088436-170088436;C/G missense_variant False AADACL4@p.W22G 1 0.087248322 ENSG00000204518 chr1:12644610-12644610;T/G missense_variant False AADACL4@p.V79M 1 0.145299145 ENSG00000204518 chr1:12651189-12651189;G/A missense_variant False AADACL4@p.S402C 1 0.052631579 ENSG00000204518 chr1:12666715-12666715;A/T missense_variant False AADACL4@p.S379C 1 0.068965517 ENSG00000204518 chr1:12666647-12666647;C/G missense_variant False AADACL4@p.P391L 1 0.177304965 ENSG00000204518 chr1:12666683-12666683;C/T missense_variant False AADACL3@p.V401G 1 0.22 ENSG00000188984 chr1:12725974-12725974;T/G missense_variant False AADACL2@p.D244N 1 0.201257862 ENSG00000197953 chr3:151757118-151757118;G/A missense_variant False AADACL3@p.M394L 1 0.150684932 ENSG00000188984 chr1:12725952-12725952;A/T missense_variant False AADACL3@p.L212M 1 0.20952381 ENSG00000188984 chr1:12725406-12725406;C/A missense_variant False AADACL3@p.A271T 1 0.544827586 ENSG00000188984 chr1:12725583-12725583;G/A missense_variant False AADACL2@p.L401V 1 0.492537313 ENSG00000197953 chr3:151757589-151757589;T/G missense_variant False AADACL2@p.I185V 1 0.405228758 ENSG00000197953 chr3:151745630-151745630;A/G missense_variant False AADACL2@p.I172Ffs*23 1 0.194895592 ENSG00000197953 chr3:151745586-151745586;A/- frameshift_variant False AADAT@p.M68I 1 0.489361702 ENSG00000109576 chr4:170088428-170088428;C/T missense_variant False AADAT@p.S105T 1 0.192982456 ENSG00000109576 chr4:170087171-170087171;C/G missense_variant False AAGAB@p.G19E 1 0.4 ENSG00000103591 chr15:67254576-67254576;C/T missense_variant False AAGAB@p.I58V 1 0.333333333 ENSG00000103591 chr15:67236722-67236722;T/C missense_variant False AAGAB@p.N59H 1 0.45 ENSG00000103591 chr15:67236719-67236719;T/G missense_variant False AAGAB@p.R303T 1 0.192307692 ENSG00000103591 chr15:67202861-67202861;C/G missense_variant False AAGAB@p.S310L 1 0.23880597 ENSG00000103591 chr15:67202840-67202840;G/A missense_variant False AAK1@p.E942Q 1 0.136363636 ENSG00000115977 chr2:69475931-69475931;C/G missense_variant False AAK1@p.N713K 1 0.5 ENSG00000115977 chr2:69507446-69507446;G/C missense_variant False AAMP@p.D395H 1 0.169154229 ENSG00000127837 chr2:218265066-218265066;C/G missense_variant False AAMP@p.E26Q 1 0.07751938 ENSG00000127837 chr2:218270011-218270011;C/G missense_variant False AAMP@p.R391C 1 0.150793651 ENSG00000127837 chr2:218265078-218265078;G/A missense_variant False AANAT@p.E87K 1 0.22459893 ENSG00000129673 chr17:76469268-76469268;G/A missense_variant False AANAT@p.R53H 1 0.133333333 ENSG00000129673 chr17:76468904-76468904;G/A missense_variant False AAR2@p.E237Q 1 0.233333333 ENSG00000131043 chr20:36240577-36240577;G/C missense_variant False AAR2@p.R360Q 1 0.206185567 ENSG00000131043 chr20:36255669-36255669;G/A missense_variant False AAR2@p.S209L 1 0.244318182 ENSG00000131043 chr20:36240494-36240494;C/T missense_variant False AADACL2@p.D346N 1 0.643678161 ENSG00000197953 chr3:151757424-151757424;G/A missense_variant False AADAC@p.F278L 1 0.078431373 ENSG00000114771 chr3:151827806-151827806;C/G missense_variant False AARD@p.D149E 1 0.120689655 ENSG00000205002 chr8:116942680-116942680;T/G missense_variant False A2M@p.G1084R 1 0.105263158 ENSG00000175899 chr12:9077727-9077727;C/T missense_variant False A2M@p.R1122H 1 0.333333333 ENSG00000175899 chr12:9076923-9076923;C/T missense_variant False A2M@p.L77V 1 0.280898876 ENSG00000175899 chr12:9113401-9113401;G/C missense_variant False A2M@p.L621P 1 0.179775281 ENSG00000175899 chr12:9095690-9095690;A/G missense_variant False A2M@p.L19P 1 0.113043478 ENSG00000175899 chr12:9115794-9115794;A/G missense_variant False A2M@p.L1217V 1 0.428571429 ENSG00000175899 chr12:9074667-9074667;G/C missense_variant False A2M@p.I409M 1 0.538461538 ENSG00000175899 chr12:9104278-9104278;G/C missense_variant False A2M@p.E184D 1 0.416666667 ENSG00000175899 chr12:9109988-9109988;C/A missense_variant False AACS@p.S655W 1 0.248447205 ENSG00000081760 chr12:125142174-125142174;C/G missense_variant False A2M@p.E113Q 1 0.166666667 ENSG00000175899 chr12:9112470-9112470;C/G missense_variant False A2M@p.E1137Q 1 0.08974359 ENSG00000175899 chr12:9076879-9076879;C/G missense_variant False A1CF@p.G415E 1 0.333333333 ENSG00000148584 chr10:50813960-50813960;C/T missense_variant False A1CF@p.G28A 1 0.238095238 ENSG00000148584 chr10:50859858-50859858;C/G missense_variant False A1CF@p.E120K 1 0.271186441 ENSG00000148584 chr10:50841869-50841869;C/T missense_variant False A1BG@p.G85* 1 0.1625 ENSG00000121410 chr19:58353014-58353015;CC/- frameshift_variant False A2ML1@p.E202K 1 0.25 ENSG00000166535 chr12:8835627-8835627;G/A missense_variant False A2ML1@p.E222K 1 0.234042553 ENSG00000166535 chr12:8836275-8836275;G/A missense_variant False A2ML1@p.L1124F 1 0.258741259 ENSG00000166535 chr12:8861165-8861165;C/T missense_variant False A2ML1@p.L522R 1 0.33557047 ENSG00000166535 chr12:8846104-8846104;T/G missense_variant False A2ML1@p.P1341Q 1 0.058441558 ENSG00000166535 chr12:8868318-8868318;C/A missense_variant False A2ML1@p.P1377A 1 0.075581395 ENSG00000166535 chr12:8868604-8868604;C/G missense_variant False A2ML1@p.P176S 1 0.266666667 ENSG00000166535 chr12:8835549-8835549;C/T missense_variant False A2ML1@p.R807H 1 0.190045249 ENSG00000166535 chr12:8851969-8851969;G/A missense_variant False A2ML1@p.S718L 1 0.211111111 ENSG00000166535 chr12:8850193-8850193;C/T missense_variant False A2ML1@p.W763S 1 0.166666667 ENSG00000166535 chr12:8851837-8851837;G/C missense_variant False A4GALT@p.R271Hfs*6 1 0.444444444 ENSG00000128274 chr22:42693126-42693142;CGCCGCGGCAGGCGCGG/- frameshift_variant False A4GNT@p.N192Y 1 0.091743119 ENSG00000118017 chr3:138124713-138124713;T/A missense_variant False A4GNT@p.T332S 1 0.287234043 ENSG00000118017 chr3:138124293-138124293;T/A missense_variant False AAAS@p.D339H 1 0.174074074 ENSG00000094914 chr12:53308797-53308797;C/G missense_variant False AAAS@p.E383Q 1 0.190909091 ENSG00000094914 chr12:53308469-53308469;C/G missense_variant False AAAS@p.K56N 1 0.192771084 ENSG00000094914 chr12:53320648-53320648;C/G missense_variant False AACS@p.I375M 1 0.509433962 ENSG00000081760 chr12:125124708-125124708;C/G missense_variant False AAR2@p.S284L 1 0.138461538 ENSG00000131043 chr20:36244790-36244790;C/T missense_variant False AARS1@p.A758V 1 0.568181818 ENSG00000090861 chr16:70255741-70255741;G/A missense_variant False ABCA13@p.F3990V 1 0.555555556 ENSG00000179869 chr7:48403777-48403777;T/G missense_variant False ABCA12@p.C781R 1 0.555555556 ENSG00000144452 chr2:215010462-215010462;A/G missense_variant False ABCA12@p.G1685R 1 0.414634146 ENSG00000144452 chr2:214978391-214978391;C/T missense_variant False ABCA12@p.F2300L 1 0.225490196 ENSG00000144452 chr2:214949102-214949102;G/C missense_variant False ABCA12@p.E951K 1 0.819277108 ENSG00000144452 chr2:215001570-215001570;C/T missense_variant False ABCA12@p.E938V 1 0.360544218 ENSG00000144452 chr2:215001608-215001608;T/A missense_variant False ABCA12@p.E567Q 1 0.090909091 ENSG00000144452 chr2:215018091-215018091;C/G missense_variant False ABCA12@p.D2167H 1 0.12244898 ENSG00000144452 chr2:214954002-214954002;C/G missense_variant False ABCA12@p.A1548T 1 0.196721311 ENSG00000144452 chr2:214980581-214980581;C/T missense_variant False AATK@p.F639L 1 0.276595745 ENSG00000181409 chr17:81122019-81122019;G/C missense_variant False ABCA10@p.R1433T 1 0.338983051 ENSG00000154263 chr17:69152142-69152142;C/G missense_variant False ABCA10@p.I636M 1 0.242424242 ENSG00000154263 chr17:69191279-69191279;G/C missense_variant False ABCA10@p.E1166V 1 0.22741433 ENSG00000154263 chr17:69155884-69155884;T/A missense_variant False ABCA10@p.D1527N 1 0.212121212 ENSG00000154263 chr17:69148880-69148880;C/T missense_variant False ABCA10@p.D1171H 1 0.196721311 ENSG00000154263 chr17:69155870-69155870;C/G missense_variant False ABCA10@p.A494D 1 0.083333333 ENSG00000154263 chr17:69193854-69193854;G/T missense_variant False ABCA12@p.I1734M 1 0.183673469 ENSG00000144452 chr2:214975964-214975964;G/C missense_variant False ABCA12@p.I1985M 1 0.204545455 ENSG00000144452 chr2:214958439-214958439;G/C missense_variant False ABCA12@p.L1290F 1 0.307692308 ENSG00000144452 chr2:214987755-214987755;G/A missense_variant False ABCA12@p.L410I 1 0.806451613 ENSG00000144452 chr2:215025732-215025732;G/T missense_variant False ABCA12@p.P686S 1 0.105960265 ENSG00000144452 chr2:215012036-215012036;G/A missense_variant False ABCA12@p.Q432E 1 0.517241379 ENSG00000144452 chr2:215019790-215019790;G/C missense_variant False ABCA12@p.Q522Afs*23 1 0.317647059 ENSG00000144452 chr2:215019429-215019430;-/C frameshift_variant False ABCA12@p.Q554H 1 0.571428571 ENSG00000144452 chr2:215018128-215018128;C/A missense_variant False ABCA12@p.S1324F 1 0.391304348 ENSG00000144452 chr2:214987652-214987652;G/A missense_variant False ABCA12@p.S213C 1 0.267857143 ENSG00000144452 chr2:215049681-215049681;G/C missense_variant False ABCA12@p.V1203E 1 0.115789474 ENSG00000144452 chr2:214990718-214990718;A/T missense_variant False ABCA12@p.Y2030C 1 0.285714286 ENSG00000144452 chr2:214958305-214958305;T/C missense_variant False ABCA13@p.C4054R 1 0.353383459 ENSG00000179869 chr7:48410609-48410609;T/C missense_variant False ABCA13@p.D1168Ifs*15 1 0.252631579 ENSG00000179869 chr7:48273165-48273189;TTTGACATGAATGTTTTCACATCTC/- frameshift_variant False ABCA13@p.E1881Q 1 0.389473684 ENSG00000179869 chr7:48275307-48275307;G/C missense_variant False ABCA13@p.E1941Q 1 0.352112676 ENSG00000179869 chr7:48275487-48275487;G/C missense_variant False ABCA13@p.E255Pfs*12 1 0.274193548 ENSG00000179869 chr7:48229950-48229951;-/CA frameshift_variant False AATK@p.S613L 1 0.529411765 ENSG00000181409 chr17:81122098-81122098;G/A missense_variant False AATK@p.E852K 1 0.555555556 ENSG00000181409 chr17:81121382-81121382;C/T missense_variant False AARS1@p.L414F 1 0.371428571 ENSG00000090861 chr16:70265645-70265645;G/A missense_variant False AASDH@p.A252V 1 0.239130435 ENSG00000157426 chr4:56371557-56371557;G/A missense_variant False AASDH@p.R408T 1 0.194029851 ENSG00000157426 chr4:56354199-56354199;C/G missense_variant False AASDH@p.N336S 1 0.189655172 ENSG00000157426 chr4:56355278-56355278;T/C missense_variant False AASDH@p.L543F 1 0.450980392 ENSG00000157426 chr4:56351405-56351405;C/A missense_variant False AASDH@p.I301M 1 0.079136691 ENSG00000157426 chr4:56355382-56355382;G/C missense_variant False AASDH@p.H792N 1 0.217687075 ENSG00000157426 chr4:56349377-56349377;G/T missense_variant False AASDH@p.D709E 1 0.329113924 ENSG00000157426 chr4:56349624-56349624;G/C missense_variant False AARS2@p.G570Afs*21 1 0.186046512 ENSG00000124608 chr6:44304688-44304688;C/- frameshift_variant False AATK@p.E1364K 1 0.222222222 ENSG00000181409 chr17:81118437-81118437;C/T missense_variant False AARS2@p.E532K 1 0.222222222 ENSG00000124608 chr6:44304803-44304803;C/T missense_variant False AARS2@p.E185K 1 0.273809524 ENSG00000124608 chr6:44311418-44311418;C/T missense_variant False AARS2@p.D337Y 1 0.4 ENSG00000124608 chr6:44307280-44307280;C/A missense_variant False AARS2@p.D120H 1 0.328571429 ENSG00000124608 chr6:44312149-44312149;C/G missense_variant False AARS1@p.M602I 1 0.52 ENSG00000090861 chr16:70259166-70259166;C/G missense_variant False AARS1@p.L5V 1 0.127659574 ENSG00000090861 chr16:70282751-70282751;G/C missense_variant False AASDH@p.S801C 1 0.066666667 ENSG00000157426 chr4:56349349-56349349;G/C missense_variant False AASDH@p.V1020F 1 0.246575342 ENSG00000157426 chr4:56338641-56338641;C/A missense_variant False AASDHPPT@p.G113E 1 0.23880597 ENSG00000149313 chr11:106079621-106079621;G/A missense_variant False AASS@p.D430E 1 0.15 ENSG00000008311 chr7:122101669-122101669;G/C missense_variant False AASS@p.E506Q 1 0.295454545 ENSG00000008311 chr7:122098757-122098757;C/G missense_variant False AASS@p.E710K 1 0.2125 ENSG00000008311 chr7:122086068-122086068;C/T missense_variant False AASS@p.G656V 1 0.272727273 ENSG00000008311 chr7:122091752-122091752;C/A missense_variant False AASS@p.K23N 1 0.604166667 ENSG00000008311 chr7:122133658-122133658;T/A missense_variant False AASS@p.R39K 1 0.203389831 ENSG00000008311 chr7:122133611-122133611;C/T missense_variant False AASS@p.R466Q 1 0.21875 ENSG00000008311 chr7:122101380-122101380;C/T missense_variant False AASS@p.R501T 1 0.319148936 ENSG00000008311 chr7:122098771-122098771;C/G missense_variant False AASS@p.S848C 1 0.409937888 ENSG00000008311 chr7:122077957-122077957;G/C missense_variant False AATF@p.E119K 1 0.203125 ENSG00000275700 chr17:36952957-36952957;G/A missense_variant False AATF@p.E219K 1 0.097222222 ENSG00000275700 chr17:36953257-36953257;G/A missense_variant False AATK@p.A837V 1 0.611111111 ENSG00000181409 chr17:81121426-81121426;G/A missense_variant False AATK@p.D914N 1 0.375 ENSG00000181409 chr17:81121196-81121196;C/T missense_variant False AATK@p.E1200K 1 0.097560976 ENSG00000181409 chr17:81120338-81120338;C/T missense_variant False ABCB5@p.E1109D 1 0.161971831 ENSG00000004846 chr7:20745336-20745336;G/C missense_variant False ABCB5@p.E882D 1 0.418367347 ENSG00000004846 chr7:20727060-20727060;G/C missense_variant False ABL1@p.R874K 1 0.3 ENSG00000097007 chr9:130884911-130884911;G/A missense_variant True ABCG2@p.T151N 1 0.19379845 ENSG00000118777 chr4:88131140-88131140;G/T missense_variant False ABCG4@p.R77H 1 0.361111111 ENSG00000172350 chr11:119150195-119150195;G/A missense_variant False ABCG4@p.R600Q 1 0.25 ENSG00000172350 chr11:119160964-119160964;G/A missense_variant False ABCG4@p.Q329H 1 0.196721311 ENSG00000172350 chr11:119156933-119156933;G/C missense_variant False ABCG4@p.Q278E 1 0.291891892 ENSG00000172350 chr11:119156585-119156585;C/G missense_variant False ABCG4@p.F378L 1 0.331147541 ENSG00000172350 chr11:119158299-119158299;C/G missense_variant False ABCG2@p.Y287H 1 0.303571429 ENSG00000118777 chr4:88115041-88115041;A/G missense_variant False ABCG2@p.S65L 1 0.379310345 ENSG00000118777 chr4:88139802-88139802;G/A missense_variant False ABCG5@p.L371F 1 0.356321839 ENSG00000138075 chr2:43824226-43824226;G/A missense_variant False ABCG2@p.S566L 1 0.891891892 ENSG00000118777 chr4:88095560-88095560;G/A missense_variant False ABCG2@p.S519L 1 0.131147541 ENSG00000118777 chr4:88097544-88097544;G/A missense_variant False ABCG2@p.S340F 1 0.214285714 ENSG00000118777 chr4:88113478-88113478;G/A missense_variant False ABCG2@p.L216F 1 0.441176471 ENSG00000118777 chr4:88121676-88121676;T/G missense_variant False ABCG2@p.C603Y 1 0.125 ENSG00000118777 chr4:88094589-88094589;C/T missense_variant False ABCG2@p.A30S 1 0.384615385 ENSG00000118777 chr4:88139908-88139908;C/A missense_variant False ABCG4@p.S202F 1 0.407035176 ENSG00000172350 chr11:119154834-119154834;C/T missense_variant False ABCG5@p.P598S 1 0.222222222 ENSG00000138075 chr2:43813280-43813280;G/A missense_variant False ABCB5@p.G874E 1 0.378378378 ENSG00000004846 chr7:20723215-20723215;G/A missense_variant False ABHD11@p.R12C 1 0.184210526 ENSG00000106077 chr7:73738764-73738764;G/A missense_variant False ABHD13@p.H38R 1 0.153846154 ENSG00000139826 chr13:108229331-108229331;A/G missense_variant False ABHD13@p.E326A 1 0.065789474 ENSG00000139826 chr13:108230195-108230195;A/C missense_variant False ABHD12B@p.I142V 1 0.076923077 ENSG00000131969 chr14:50880540-50880540;A/G missense_variant False ABHD12@p.H226P 1 0.097560976 ENSG00000100997 chr20:25309518-25309518;T/G missense_variant False ABHD11@p.T260K 1 0.387254902 ENSG00000106077 chr7:73736965-73736965;G/T missense_variant False ABHD11@p.R2Q 1 0.666666667 ENSG00000106077 chr7:73738793-73738793;C/T missense_variant False ABHD11@p.E204K 1 0.081395349 ENSG00000106077 chr7:73737244-73737244;C/T missense_variant False ABCG5@p.P632A 1 0.666666667 ENSG00000138075 chr2:43813178-43813178;G/C missense_variant False ABHD10@p.S86Y 1 0.436363636 ENSG00000144827 chr3:111981898-111981898;C/A missense_variant False ABHD10@p.Q188E 1 0.573033708 ENSG00000144827 chr3:111987037-111987037;C/G missense_variant False ABHD10@p.E226K 1 0.189189189 ENSG00000144827 chr3:111991476-111991476;G/A missense_variant False ABHD10@p.D62H 1 0.424242424 ENSG00000144827 chr3:111981825-111981825;G/C missense_variant False ABCG8@p.S241C 1 0.351515152 ENSG00000143921 chr2:43852626-43852626;C/G missense_variant False ABCG5@p.Q459H 1 0.339622642 ENSG00000138075 chr2:43822883-43822883;C/G missense_variant False ABCG1@p.V289I 1 0.424354244 ENSG00000160179 chr21:42285886-42285886;G/A missense_variant False ABCG1@p.S38F 1 0.448717949 ENSG00000160179 chr21:42225741-42225741;C/T missense_variant False ABCG1@p.L280P 1 0.100478469 ENSG00000160179 chr21:42284664-42284664;T/C missense_variant False ABCD2@p.R393Q 1 0.271929825 ENSG00000173208 chr12:39607657-39607657;C/T missense_variant False ABCD3@p.Q369E 1 0.131868132 ENSG00000117528 chr1:94487931-94487931;C/G missense_variant False ABCD3@p.P509A 1 0.488095238 ENSG00000117528 chr1:94498843-94498843;C/G missense_variant False ABCD3@p.I218M 1 0.142857143 ENSG00000117528 chr1:94478285-94478285;C/G missense_variant False ABCD3@p.D179H 1 0.43902439 ENSG00000117528 chr1:94475645-94475645;G/C missense_variant False ABCD2@p.S353N 1 0.215384615 ENSG00000173208 chr12:39617050-39617050;C/T missense_variant False ABCD2@p.R435S 1 0.212121212 ENSG00000173208 chr12:39604862-39604862;T/A missense_variant False ABCD2@p.R117K 1 0.270588235 ENSG00000173208 chr12:39619266-39619266;C/T missense_variant False ABCG1@p.F108L 1 0.088888889 ENSG00000160179 chr21:42271107-42271107;C/G missense_variant False ABCD2@p.H476Y 1 0.430555556 ENSG00000173208 chr12:39603986-39603986;G/A missense_variant False ABCD2@p.E698K 1 0.680851064 ENSG00000173208 chr12:39554043-39554043;C/T missense_variant False ABCD2@p.A204V 1 0.443396226 ENSG00000173208 chr12:39619005-39619005;G/A missense_variant False ABCD1@p.S244L 1 0.1875 ENSG00000101986 chrX:153725997-153725997;C/T missense_variant False ABCD1@p.P127S 1 1.0 ENSG00000101986 chrX:153725645-153725645;C/T missense_variant False ABCD1@p.P127L 1 1.0 ENSG00000101986 chrX:153725646-153725646;C/T missense_variant False ABCD3@p.R124T 1 0.180327869 ENSG00000117528 chr1:94473801-94473801;G/C missense_variant False ABCD3@p.R96P 1 0.12195122 ENSG00000117528 chr1:94467959-94467959;G/C missense_variant False ABCD4@p.D548H 1 0.09375 ENSG00000119688 chr14:74286811-74286811;C/G missense_variant False ABCE1@p.A180E 1 0.348214286 ENSG00000164163 chr4:145110236-145110236;C/A missense_variant False ABCE1@p.D569N 1 0.176470588 ENSG00000164163 chr4:145125054-145125054;G/A missense_variant False ABCE1@p.E380K 1 0.333333333 ENSG00000164163 chr4:145120147-145120147;G/A missense_variant False ABCE1@p.I416S 1 0.490384615 ENSG00000164163 chr4:145121375-145121375;T/G missense_variant False ABCE1@p.Q44H 1 0.146341463 ENSG00000164163 chr4:145105633-145105633;G/C missense_variant False ABCE1@p.R190Q 1 0.861344538 ENSG00000164163 chr4:145110400-145110400;G/A missense_variant False ABCF1@p.E410K 1 0.225806452 ENSG00000204574 chr6:30584317-30584317;G/A missense_variant False ABCF1@p.E413Q 1 0.233009709 ENSG00000204574 chr6:30584326-30584326;G/C missense_variant False ABCF1@p.F693Lfs*83 1 0.277372263 ENSG00000204574 chr6:30589817-30589820;CTTC/TTT frameshift_variant False ABCF1@p.P2L 1 0.375 ENSG00000204574 chr6:30571492-30571492;C/T missense_variant False ABCF2@p.D155N 1 0.3 ENSG00000285292 chr7:151224019-151224019;C/T missense_variant False ABCF3@p.D247N 1 0.202702703 ENSG00000161204 chr3:184188310-184188310;G/A missense_variant False ABCF3@p.E181Q 1 0.216 ENSG00000161204 chr3:184187955-184187955;G/C missense_variant False ABCF3@p.L219S 1 0.191256831 ENSG00000161204 chr3:184188227-184188227;T/C missense_variant False ABHD13@p.H38Y 1 0.142857143 ENSG00000139826 chr13:108229330-108229330;C/T missense_variant False ABHD13@p.K288N 1 0.209302326 ENSG00000139826 chr13:108230082-108230082;G/C missense_variant False ABHD14A-ACY1@p.E293Q 1 0.314285714 ENSG00000114786 chr3:51985894-51985894;G/C missense_variant False ABI2@p.D400H 1 0.13559322 ENSG00000138443 chr2:203416913-203416913;G/C missense_variant False ABI3@p.P233A 1 0.541666667 ENSG00000108798 chr17:49220221-49220221;C/G missense_variant False ABI2@p.R255Q 1 0.442307692 ENSG00000138443 chr2:203395694-203395694;G/A missense_variant False ABI2@p.R107K 1 0.25 ENSG00000138443 chr2:203380242-203380242;G/A missense_variant False ABI2@p.Q226H 1 0.25 ENSG00000138443 chr2:203394799-203394799;G/C missense_variant False ABI2@p.I481M 1 0.216494845 ENSG00000138443 chr2:203427253-203427253;C/G missense_variant False ABI2@p.E260K 1 0.234375 ENSG00000138443 chr2:203395708-203395708;G/A missense_variant False ABI1@p.Y32C 1 0.279569892 ENSG00000136754 chr10:26860769-26860769;T/C missense_variant False ABHD6@p.E198K 1 0.12 ENSG00000163686 chr3:58274726-58274726;G/A missense_variant False ABI1@p.T41A 1 0.275362319 ENSG00000136754 chr10:26823302-26823302;T/C missense_variant False ABI1@p.S305L 1 0.241935484 ENSG00000136754 chr10:26759226-26759226;G/A missense_variant False ABI1@p.S282Y 1 0.311688312 ENSG00000136754 chr10:26763936-26763936;G/T missense_variant False ABI1@p.E49K 1 0.382352941 ENSG00000136754 chr10:26823278-26823278;C/T missense_variant False ABHD8@p.S423L 1 0.307692308 ENSG00000127220 chr19:17292713-17292713;G/A missense_variant False ABHD8@p.M341I 1 0.09478673 ENSG00000127220 chr19:17294414-17294414;C/A missense_variant False ABI3@p.P293T 1 0.1875 ENSG00000108798 chr17:49222165-49222165;C/A missense_variant False ABI3BP@p.E420Q 1 0.322580645 ENSG00000154175 chr3:100850681-100850681;C/G missense_variant False ABI3BP@p.E944Q 1 0.475609756 ENSG00000154175 chr3:100752925-100752925;C/G missense_variant False ABI3BP@p.F47L 1 0.365384615 ENSG00000154175 chr3:100926420-100926420;G/C missense_variant False ABI3BP@p.K877N 1 0.384615385 ENSG00000154175 chr3:100765906-100765906;C/A missense_variant False ABI3BP@p.P147S 1 0.195652174 ENSG00000154175 chr3:100898784-100898784;G/A missense_variant False ABI3BP@p.P30S 1 0.291666667 ENSG00000154175 chr3:100926473-100926473;G/A missense_variant False ABI3BP@p.P495L 1 0.437209302 ENSG00000154175 chr3:100847619-100847619;G/A missense_variant False ABI3BP@p.V842M 1 0.120967742 ENSG00000154175 chr3:100770806-100770806;C/T missense_variant False ABITRAM@p.V145I 1 0.675675676 ENSG00000119328 chr9:108939573-108939573;G/A missense_variant False ABL1@p.D36N 1 0.214814815 ENSG00000097007 chr9:130854090-130854090;G/A missense_variant True ABL1@p.E675K 1 0.444444444 ENSG00000097007 chr9:130884313-130884313;G/A missense_variant True ABL1@p.H201Y 1 0.301369863 ENSG00000097007 chr9:130862814-130862814;C/T missense_variant True ABL1@p.H246Y 1 0.515463918 ENSG00000097007 chr9:130862949-130862949;C/T missense_variant True ABL1@p.K262Cfs*4 1 0.216666667 ENSG00000097007 chr9:130862997-130863002;AAGAAA/TG frameshift_variant True ABL1@p.P628R 1 0.292134831 ENSG00000097007 chr9:130884173-130884173;C/G missense_variant True ABL1@p.R1013W 1 0.086206897 ENSG00000097007 chr9:130885327-130885327;C/T missense_variant True ABHD8@p.E232Q 1 0.190082645 ENSG00000127220 chr19:17300923-17300923;C/G missense_variant False ABHD6@p.E109K 1 0.315789474 ENSG00000163686 chr3:58269369-58269369;G/A missense_variant False ABHD14A-ACY1@p.F476V 1 0.621621622 ENSG00000114786 chr3:51987559-51987559;T/G missense_variant False ABHD16A@p.E23K 1 0.418181818 ENSG00000204427 chr6:31703215-31703215;C/T missense_variant False ABHD16A@p.R51C 1 0.25 ENSG00000204427 chr6:31702112-31702112;G/A missense_variant False ABHD16A@p.R172Q 1 0.325 ENSG00000204427 chr6:31693138-31693138;C/T missense_variant False ABHD16A@p.R136W 1 0.145833333 ENSG00000204427 chr6:31696971-31696971;G/A missense_variant False ABHD16A@p.P438A 1 0.269662921 ENSG00000204427 chr6:31688099-31688099;G/C missense_variant False ABHD16A@p.G179Vfs*38 1 0.253012048 ENSG00000204427 chr6:31693117-31693117;C/- frameshift_variant False ABHD16A@p.G101R 1 0.146341463 ENSG00000204427 chr6:31700984-31700984;C/G missense_variant False ABHD16A@p.D494N 1 0.514705882 ENSG00000204427 chr6:31687708-31687708;C/T missense_variant False ABHD3@p.V393A 1 0.083333333 ENSG00000158201 chr18:21651643-21651643;A/G missense_variant False ABHD15@p.S293I 1 0.263888889 ENSG00000168792 chr17:29566089-29566089;C/A missense_variant False ABHD15@p.G239A 1 0.178571429 ENSG00000168792 chr17:29566251-29566251;C/G missense_variant False ABHD15@p.D359N 1 0.10989011 ENSG00000168792 chr17:29562893-29562893;C/T missense_variant False ABHD15@p.A259T 1 0.379310345 ENSG00000168792 chr17:29566192-29566192;C/T missense_variant False ABHD14B@p.N146S 1 0.057471264 ENSG00000114779 chr3:51969959-51969959;T/C missense_variant False ABHD14A-ACY1@p.Y248C 1 0.382352941 ENSG00000114786 chr3:51985374-51985374;A/G missense_variant False ABHD16A@p.S22C 1 0.125 ENSG00000204427 chr6:31703217-31703217;G/C missense_variant False ABHD16A@p.S298F 1 0.292307692 ENSG00000204427 chr6:31690553-31690553;G/A missense_variant False ABHD16B@p.V248A 1 0.285714286 ENSG00000183260 chr20:63862283-63862283;T/C missense_variant False ABHD17B@p.K75Q 1 0.428571429 ENSG00000107362 chr9:71874858-71874858;T/G missense_variant False ABHD17C@p.E277K 1 0.421052632 ENSG00000136379 chr15:80754209-80754209;G/A missense_variant False ABHD17C@p.S157F 1 0.2 ENSG00000136379 chr15:80695899-80695899;C/T missense_variant False ABHD18@p.H326Q 1 0.081081081 ENSG00000164074 chr4:128028753-128028753;C/G missense_variant False ABHD18@p.L142M 1 0.421052632 ENSG00000164074 chr4:128009173-128009173;T/A missense_variant False ABHD18@p.N313Y 1 0.779661017 ENSG00000164074 chr4:128028712-128028712;A/T missense_variant False ABHD1@p.C174F 1 0.193877551 ENSG00000143994 chr2:27129530-27129530;G/T missense_variant False ABHD1@p.L29F 1 0.492307692 ENSG00000143994 chr2:27124035-27124035;G/C missense_variant False ABHD1@p.R318W 1 0.050724638 ENSG00000143994 chr2:27130362-27130362;C/T missense_variant False ABHD2@p.D105H 1 0.724137931 ENSG00000140526 chr15:89151795-89151795;G/C missense_variant False ABHD2@p.L317V 1 0.105263158 ENSG00000140526 chr15:89191102-89191102;C/G missense_variant False ABHD3@p.G405V 1 0.566371681 ENSG00000158201 chr18:21651607-21651607;C/A missense_variant False ABHD3@p.L225V 1 0.289473684 ENSG00000158201 chr18:21659339-21659339;G/C missense_variant False ABHD3@p.R90Q 1 0.278688525 ENSG00000158201 chr18:21703641-21703641;C/T missense_variant False ABCD1@p.E155K 1 0.785714286 ENSG00000101986 chrX:153725729-153725729;G/A missense_variant False ABCC9@p.Y1209C 1 0.234782609 ENSG00000069431 chr12:21829001-21829001;T/C missense_variant False ABCC9@p.W435R 1 0.428571429 ENSG00000069431 chr12:21910174-21910174;A/G missense_variant False ABCC11@p.P50A 1 0.125 ENSG00000121270 chr16:48230525-48230525;G/C missense_variant False ABCC12@p.D917E 1 0.544642857 ENSG00000140798 chr16:48104291-48104291;G/T missense_variant False ABCC12@p.D1322N 1 0.227467811 ENSG00000140798 chr16:48083938-48083938;C/T missense_variant False ABCC11@p.T893M 1 0.173913043 ENSG00000121270 chr16:48192548-48192548;G/A missense_variant False ABCC11@p.R841P 1 0.283018868 ENSG00000121270 chr16:48192704-48192704;C/G missense_variant False ABCC11@p.R1294C 1 0.315068493 ENSG00000121270 chr16:48170116-48170116;G/A missense_variant False ABCC11@p.R1096Q 1 0.434782609 ENSG00000121270 chr16:48178658-48178658;C/T missense_variant False ABCC11@p.L385V 1 0.492307692 ENSG00000121270 chr16:48214976-48214976;G/C missense_variant False ABCC10@p.R443C 1 0.489795918 ENSG00000124574 chr6:43433307-43433307;C/T missense_variant False ABCC11@p.I253K 1 0.4125 ENSG00000121270 chr16:48222617-48222617;A/T missense_variant False ABCC11@p.G966A 1 0.114285714 ENSG00000121270 chr16:48187237-48187237;C/G missense_variant False ABCC11@p.G628E 1 0.090909091 ENSG00000121270 chr16:48200475-48200475;C/T missense_variant False ABCC11@p.F263L 1 0.495238095 ENSG00000121270 chr16:48216276-48216276;G/C missense_variant False ABCC11@p.E1100A 1 0.228571429 ENSG00000121270 chr16:48178646-48178646;T/G missense_variant False ABCC11@p.A950T 1 0.266666667 ENSG00000121270 chr16:48187286-48187286;C/T missense_variant False ABCC12@p.E4K 1 0.136363636 ENSG00000140798 chr16:48146415-48146415;C/T missense_variant False ABCC12@p.F1084L 1 0.485714286 ENSG00000140798 chr16:48091153-48091153;G/C missense_variant False ABCC12@p.I131L 1 0.409090909 ENSG00000140798 chr16:48141238-48141238;T/G missense_variant False ABCC12@p.S1059L 1 0.088607595 ENSG00000140798 chr16:48096765-48096765;G/A missense_variant False ABCC12@p.T190M 1 0.554140127 ENSG00000140798 chr16:48140775-48140775;G/A missense_variant False ABCC12@p.V65M 1 0.355140187 ENSG00000140798 chr16:48143992-48143992;C/T missense_variant False ABCC1@p.D1454N 1 0.234042553 ENSG00000103222 chr16:16138431-16138431;G/A missense_variant False ABCC1@p.F365L 1 0.214285714 ENSG00000103222 chr16:16045890-16045890;C/G missense_variant False ABCC1@p.I115M 1 0.2 ENSG00000103222 chr16:16009895-16009895;C/G missense_variant False ABCC1@p.M1386V 1 0.333333333 ENSG00000103222 chr16:16136508-16136508;A/G missense_variant False ABCC1@p.P794L 1 0.222222222 ENSG00000103222 chr16:16086912-16086912;C/T missense_variant False ABCC1@p.P794S 1 0.091954023 ENSG00000103222 chr16:16086911-16086911;C/T missense_variant False ABCC1@p.S1136F 1 0.294117647 ENSG00000103222 chr16:16121991-16121991;C/T missense_variant False ABCC1@p.S1268L 1 0.114285714 ENSG00000103222 chr16:16125895-16125895;C/T missense_variant False ABCC1@p.S279F 1 0.164383562 ENSG00000103222 chr16:16044476-16044476;C/T missense_variant False ABCC1@p.S847C 1 0.272727273 ENSG00000103222 chr16:16090484-16090484;C/G missense_variant False ABCC2@p.A1413S 1 0.411016949 ENSG00000023839 chr10:99847051-99847051;G/T missense_variant False ABCC11@p.A513V 1 0.263157895 ENSG00000121270 chr16:48211018-48211018;G/A missense_variant False ABCC10@p.R1090Q 1 0.106060606 ENSG00000124574 chr6:43445837-43445837;G/A missense_variant False ABCC2@p.E1411Q 1 0.191082803 ENSG00000023839 chr10:99847045-99847045;G/C missense_variant False ABCB5@p.Q1254L 1 0.533333333 ENSG00000004846 chr7:20755611-20755611;A/T missense_variant False ABCB6@p.R663W 1 0.325 ENSG00000115657 chr2:219211090-219211090;G/A missense_variant False ABCB6@p.K732R 1 0.238095238 ENSG00000115657 chr2:219210772-219210772;T/C missense_variant False ABCB6@p.D566H 1 0.346153846 ENSG00000115657 chr2:219213462-219213462;C/G missense_variant False ABCB5@p.T886A 1 0.55 ENSG00000004846 chr7:20727070-20727070;A/G missense_variant False ABCB5@p.S193L 1 0.126436782 ENSG00000004846 chr7:20643532-20643532;C/T missense_variant False ABCB5@p.R587Q 1 0.464788732 ENSG00000004846 chr7:20681557-20681557;G/A missense_variant False ABCB5@p.Q1098E 1 0.253333333 ENSG00000004846 chr7:20745301-20745301;C/G missense_variant False ABCC10@p.P578R 1 0.317647059 ENSG00000124574 chr6:43435875-43435875;C/G missense_variant False ABCB5@p.N1219K 1 0.258064516 ENSG00000004846 chr7:20755507-20755507;C/A missense_variant False ABCB5@p.M298I 1 0.528571429 ENSG00000004846 chr7:20646051-20646051;G/T missense_variant False ABCB5@p.I887V 1 0.296875 ENSG00000004846 chr7:20727073-20727073;A/G missense_variant False ABCB5@p.I478M 1 0.510204082 ENSG00000004846 chr7:20651521-20651521;C/G missense_variant False ABCB5@p.I452T 1 0.276595745 ENSG00000004846 chr7:20651442-20651442;T/C missense_variant False ABCB5@p.I1166T 1 0.454545455 ENSG00000004846 chr7:20753427-20753427;T/C missense_variant False ABCB6@p.T740I 1 0.256756757 ENSG00000115657 chr2:219210748-219210748;G/A missense_variant False ABCB7@p.E730V 1 0.174603175 ENSG00000131269 chrX:75053440-75053440;T/A missense_variant False ABCB7@p.S386I 1 0.048192771 ENSG00000131269 chrX:75071559-75071559;C/A missense_variant False ABCB7@p.S507G 1 0.295454545 ENSG00000131269 chrX:75069301-75069301;T/C missense_variant False ABCB8@p.C462F 1 0.413043478 ENSG00000197150 chr7:151040580-151040580;G/T missense_variant False ABCB8@p.E447Q 1 0.441860465 ENSG00000197150 chr7:151040534-151040534;G/C missense_variant False ABCB8@p.F28L 1 0.55 ENSG00000197150 chr7:151028599-151028599;C/A missense_variant False ABCB8@p.G129A 1 0.428571429 ENSG00000197150 chr7:151033844-151033844;G/C missense_variant False ABCB8@p.G691V 1 0.208695652 ENSG00000197150 chr7:151045213-151045213;G/T missense_variant False ABCB8@p.K698N 1 0.267857143 ENSG00000197150 chr7:151045235-151045235;G/C missense_variant False ABCB8@p.S429F 1 0.101265823 ENSG00000197150 chr7:151040285-151040285;C/T missense_variant False ABCB9@p.E279K 1 0.257142857 ENSG00000150967 chr12:122949800-122949800;C/T missense_variant False ABCC10@p.A1351D 1 0.311827957 ENSG00000124574 chr6:43448973-43448973;C/A missense_variant False ABCC10@p.E240K 1 0.078947368 ENSG00000124574 chr6:43432698-43432698;G/A missense_variant False ABCC10@p.E700Q 1 0.228915663 ENSG00000124574 chr6:43438766-43438766;G/C missense_variant False ABCC10@p.H127D 1 0.173076923 ENSG00000124574 chr6:43432359-43432359;C/G missense_variant False ABCC10@p.I444M 1 0.153846154 ENSG00000124574 chr6:43433312-43433312;C/G missense_variant False ABCC2@p.C1105Y 1 0.478947368 ENSG00000023839 chr10:99834435-99834435;G/A missense_variant False ABCC2@p.E458Q 1 0.19047619 ENSG00000023839 chr10:99804181-99804181;G/C missense_variant False ABCC9@p.V202A 1 0.266666667 ENSG00000069431 chr12:21915879-21915879;A/G missense_variant False ABCC6@p.E1320K 1 0.363636364 ENSG00000091262 chr16:16154956-16154956;C/T missense_variant False ABCC8@p.E268K 1 0.3 ENSG00000006071 chr11:17461603-17461603;C/T missense_variant False ABCC8@p.A948Pfs*94 1 0.181818182 ENSG00000006071 chr11:17407432-17407432;C/- frameshift_variant False ABCC6@p.S706F 1 0.164179104 ENSG00000091262 chr16:16182542-16182542;G/A missense_variant False ABCC6@p.R807Q 1 0.219178082 ENSG00000091262 chr16:16177622-16177622;C/T missense_variant False ABCC6@p.M1006T 1 0.56 ENSG00000091262 chr16:16165912-16165912;A/G missense_variant False ABCC6@p.E1437K 1 0.833333333 ENSG00000091262 chr16:16150672-16150672;C/T missense_variant False ABCC6@p.E1266K 1 0.225806452 ENSG00000091262 chr16:16157749-16157749;C/T missense_variant False ABCC5@p.M1116I 1 0.395348837 ENSG00000114770 chr3:183947390-183947390;C/T missense_variant False ABCC5@p.S67F 1 0.1375 ENSG00000114770 chr3:183989313-183989313;G/A missense_variant False ABCC5@p.S456C 1 0.169491525 ENSG00000114770 chr3:183977554-183977554;G/C missense_variant False ABCC5@p.S1416C 1 0.067669173 ENSG00000114770 chr3:183921367-183921367;G/C missense_variant False ABCC5@p.R576S 1 0.456140351 ENSG00000114770 chr3:183971596-183971596;C/A missense_variant False ABCC5@p.R390W 1 0.253333333 ENSG00000114770 chr3:183978631-183978631;G/A missense_variant False ABCC5@p.R286T 1 0.109375 ENSG00000114770 chr3:183982593-183982593;C/G missense_variant False ABCC8@p.E803K 1 0.362068966 ENSG00000006071 chr11:17413462-17413462;C/T missense_variant False ABCC8@p.G1554V 1 0.263157895 ENSG00000006071 chr11:17393076-17393076;C/A missense_variant False ABCC8@p.S773L 1 0.411764706 ENSG00000006071 chr11:17414584-17414584;G/A missense_variant False ABCC8@p.T531S 1 0.1625 ENSG00000006071 chr11:17442759-17442759;T/A missense_variant False ABCC8@p.V222M 1 0.509090909 ENSG00000006071 chr11:17461741-17461741;C/T missense_variant False ABCC9@p.A247S 1 0.548913043 ENSG00000069431 chr12:21915745-21915745;C/A missense_variant False ABCC9@p.D692H 1 0.148148148 ENSG00000069431 chr12:21875672-21875672;C/G missense_variant False ABCC9@p.E1200Dfs*2 1 0.365217391 ENSG00000069431 chr12:21829027-21829027;T/- frameshift_variant False ABCC9@p.E853Q 1 0.067226891 ENSG00000069431 chr12:21852454-21852454;C/G missense_variant False ABCC9@p.I1471F 1 0.257575758 ENSG00000069431 chr12:21807384-21807384;T/A missense_variant False ABCC9@p.K55E 1 0.45 ENSG00000069431 chr12:21933903-21933903;T/C missense_variant False ABCC9@p.L387V 1 0.132450331 ENSG00000069431 chr12:21910831-21910831;G/C missense_variant False ABCC9@p.M1546I 1 0.212765957 ENSG00000069431 chr12:21805186-21805186;C/T missense_variant False ABCC9@p.Q723K 1 0.197530864 ENSG00000069431 chr12:21872656-21872656;G/T missense_variant False ABCC9@p.Q723R 1 0.203703704 ENSG00000069431 chr12:21872655-21872655;T/C missense_variant False ABCC9@p.T233A 1 0.074074074 ENSG00000069431 chr12:21915787-21915787;T/C missense_variant False ABCC9@p.T332A 1 0.387755102 ENSG00000069431 chr12:21912889-21912889;T/C missense_variant False ABCC5@p.Q1369E 1 0.395348837 ENSG00000114770 chr3:183925662-183925662;G/C missense_variant False ABCC5@p.L1392V 1 0.486111111 ENSG00000114770 chr3:183925593-183925593;G/C missense_variant False ABCC2@p.K1288N 1 0.094339623 ENSG00000023839 chr10:99844342-99844342;G/T missense_variant False ABCC3@p.G833D 1 0.18452381 ENSG00000108846 chr17:50673557-50673557;G/A missense_variant False ABCC3@p.R1338S 1 0.701492537 ENSG00000108846 chr17:50684006-50684006;C/A missense_variant False ABCC3@p.R1307T 1 0.274193548 ENSG00000108846 chr17:50683722-50683722;G/C missense_variant False ABCC3@p.M1382I 1 0.104347826 ENSG00000108846 chr17:50684741-50684741;G/A missense_variant False ABCC3@p.L1426V 1 0.120689655 ENSG00000108846 chr17:50684871-50684871;C/G missense_variant False ABCC3@p.I339V 1 0.353658537 ENSG00000108846 chr17:50663697-50663697;A/G missense_variant False ABCC3@p.I1104M 1 0.186746988 ENSG00000108846 chr17:50676522-50676522;C/G missense_variant False ABCC3@p.E1081Q 1 0.096551724 ENSG00000108846 chr17:50676451-50676451;G/C missense_variant False ABCC5@p.K357N 1 0.369230769 ENSG00000114770 chr3:183981803-183981803;C/A missense_variant False ABCC3@p.D203N 1 0.181818182 ENSG00000108846 chr17:50658202-50658202;G/A missense_variant False ABCC2@p.V114I 1 0.151515152 ENSG00000023839 chr10:99793557-99793557;G/A missense_variant False ABCC2@p.R1174C 1 0.094594595 ENSG00000023839 chr10:99836196-99836196;C/T missense_variant False ABCC2@p.L931F 1 0.258064516 ENSG00000023839 chr10:99830761-99830761;G/T missense_variant False ABCC2@p.K578T 1 0.14893617 ENSG00000023839 chr10:99808147-99808147;A/C missense_variant False ABCC2@p.K493N 1 0.169230769 ENSG00000023839 chr10:99805396-99805396;G/C missense_variant False ABCC3@p.S404F 1 0.448 ENSG00000108846 chr17:50663984-50663984;C/T missense_variant False ABCC3@p.V1322M 1 0.383561644 ENSG00000108846 chr17:50683958-50683958;G/A missense_variant False ABCC3@p.V555Cfs*24 1 0.185185185 ENSG00000108846 chr17:50667890-50667890;G/- frameshift_variant False ABCC4@p.E378Q 1 0.322033898 ENSG00000125257 chr13:95206561-95206561;C/G missense_variant False ABCC4@p.E424K 1 0.337662338 ENSG00000125257 chr13:95188536-95188536;C/T missense_variant False ABCC4@p.E920K 1 0.315217391 ENSG00000125257 chr13:95075480-95075480;C/T missense_variant False ABCC4@p.I1197M 1 0.482758621 ENSG00000125257 chr13:95044304-95044304;T/C missense_variant False ABCC4@p.I33S 1 0.127906977 ENSG00000125257 chr13:95247730-95247730;A/C missense_variant False ABCC4@p.L1198F 1 0.357142857 ENSG00000125257 chr13:95044301-95044301;C/G missense_variant False ABCC4@p.P1094A 1 0.261904762 ENSG00000125257 chr13:95062790-95062790;G/C missense_variant False ABCC4@p.V569D 1 0.5 ENSG00000125257 chr13:95177728-95177728;A/T missense_variant False ABCC4@p.V776I 1 0.185185185 ENSG00000125257 chr13:95161318-95161318;C/T missense_variant False ABCC4@p.W64R 1 0.104651163 ENSG00000125257 chr13:95247091-95247091;A/G missense_variant False ABCC5@p.A543V 1 0.317919075 ENSG00000114770 chr3:183971696-183971696;G/A missense_variant False ABCC5@p.E1355K 1 0.213114754 ENSG00000114770 chr3:183925704-183925704;C/T missense_variant False ABCC5@p.E212Q 1 0.152866242 ENSG00000114770 chr3:183982965-183982965;C/G missense_variant False ABCC5@p.H477Y 1 0.296296296 ENSG00000114770 chr3:183971895-183971895;G/A missense_variant False ACVR1@p.F149C 1 0.479166667 ENSG00000115170 chr2:157778228-157778228;A/C missense_variant False ACVR1@p.L295I 1 0.5 ENSG00000115170 chr2:157766104-157766104;G/T missense_variant False AHCTF1@p.L688V 1 0.473684211 ENSG00000153207 chr1:246891049-246891049;A/C missense_variant False ADGRV1@p.T5716S 1 0.155172414 ENSG00000164199 chr5:90848764-90848764;C/G missense_variant False ADH1B@p.E240K 1 0.148397976 ENSG00000196616 chr4:99313931-99313931;C/T missense_variant False ADH1A@p.P107L 1 0.120833333 ENSG00000187758 chr4:99284743-99284743;G/A missense_variant False ADH1A@p.G317R 1 0.377622378 ENSG00000187758 chr4:99280159-99280159;C/T missense_variant False ADH1A@p.G317E 1 0.378091873 ENSG00000187758 chr4:99280158-99280158;C/T missense_variant False ADH1A@p.E327D 1 0.044117647 ENSG00000187758 chr4:99279548-99279548;T/A missense_variant False ADH1A@p.D361H 1 0.352941176 ENSG00000187758 chr4:99279448-99279448;C/G missense_variant False ADGRV1@p.T2209K 1 0.571428571 ENSG00000164199 chr5:90689996-90689996;C/A missense_variant False ADH1B@p.Q245E 1 0.443925234 ENSG00000196616 chr4:99313916-99313916;G/C missense_variant False ADGRV1@p.S5710Cfs*7 1 0.12 ENSG00000164199 chr5:90848741-90848769;ATTCAGTCACTTTGCTGAAGTGACTGAGA/- frameshift_variant False ADGRV1@p.S2471N 1 0.318181818 ENSG00000164199 chr5:90694168-90694168;G/A missense_variant False ADGRV1@p.S1347C 1 0.461538462 ENSG00000164199 chr5:90653614-90653614;C/G missense_variant False ADGRV1@p.S11F 1 0.333333333 ENSG00000164199 chr5:90614844-90614844;C/T missense_variant False ADGRV1@p.R5247K 1 0.970588235 ENSG00000164199 chr5:90811000-90811000;G/A missense_variant False ADGRV1@p.R4268Q 1 0.40625 ENSG00000164199 chr5:90778563-90778563;G/A missense_variant False ADH1B@p.I73T 1 0.220338983 ENSG00000196616 chr4:99318087-99318087;A/G missense_variant False ADH1C@p.L62del 1 0.538461538 ENSG00000248144 chr4:99347078-99347080;GAA/- inframe_deletion False AEBP1@p.G832R 1 0.803278689 ENSG00000106624 chr7:44112834-44112834;G/A missense_variant False ADHFE1@p.D132Y 1 0.368421053 ENSG00000285791 chr8:66445258-66445258;G/T missense_variant False ADIPOR1@p.P101S 1 0.114754098 ENSG00000159346 chr1:202946568-202946568;G/A missense_variant False ADIPOR1@p.E60K 1 0.181818182 ENSG00000159346 chr1:202948384-202948384;C/T missense_variant False ADIPOR1@p.E36Q 1 0.102040816 ENSG00000159346 chr1:202950965-202950965;C/G missense_variant False ADIPOR1@p.C183R 1 0.393258427 ENSG00000159346 chr1:202945053-202945053;A/G missense_variant False ADIPOQ@p.V110A 1 0.380165289 ENSG00000181092 chr3:186854298-186854298;T/C missense_variant False ADIPOQ@p.P95L 1 0.120689655 ENSG00000181092 chr3:186854253-186854253;C/T missense_variant False ADH7@p.E48K 1 0.389830508 ENSG00000196344 chr4:99429546-99429546;C/T missense_variant False ADH1C@p.S178L 1 0.378881988 ENSG00000248144 chr4:99344896-99344896;G/A missense_variant False ADH6@p.Q245E 1 0.176638177 ENSG00000172955 chr4:99208763-99208763;G/C missense_variant False ADH6@p.P64L 1 0.425531915 ENSG00000172955 chr4:99213677-99213677;G/A missense_variant False ADH6@p.P31T 1 0.408602151 ENSG00000172955 chr4:99216190-99216190;G/T missense_variant False ADH6@p.M363I 1 0.541666667 ENSG00000172955 chr4:99204939-99204939;C/T missense_variant False ADH6@p.G202A 1 0.172804533 ENSG00000172955 chr4:99208891-99208891;C/G missense_variant False ADH4@p.E312K 1 0.153846154 ENSG00000198099 chr4:99127254-99127254;C/T missense_variant False ADGRV1@p.R3680C 1 0.262135922 ENSG00000164199 chr5:90750614-90750614;C/T missense_variant False ADGRV1@p.R1600K 1 0.407407407 ENSG00000164199 chr5:90672592-90672592;G/A missense_variant False ADGRV1@p.R1251I 1 0.34375 ENSG00000164199 chr5:90653326-90653326;G/T missense_variant False ADGRV1@p.D667Y 1 0.414965986 ENSG00000164199 chr5:90635273-90635273;G/T missense_variant False ADGRV1@p.E3900Q 1 0.523809524 ENSG00000164199 chr5:90756571-90756571;G/C missense_variant False ADGRV1@p.E3748Q 1 0.175 ENSG00000164199 chr5:90753694-90753694;G/C missense_variant False ADGRV1@p.E3082K 1 0.517241379 ENSG00000164199 chr5:90716526-90716526;G/A missense_variant False ADGRV1@p.E1597K 1 0.236842105 ENSG00000164199 chr5:90672582-90672582;G/A missense_variant False ADGRV1@p.E1171K 1 0.277777778 ENSG00000164199 chr5:90652440-90652440;G/A missense_variant False ADGRV1@p.E1049D 1 0.360655738 ENSG00000164199 chr5:90647622-90647622;G/T missense_variant False ADGRV1@p.D601H 1 0.441176471 ENSG00000164199 chr5:90629501-90629501;G/C missense_variant False ADGRV1@p.R1048K 1 0.289655172 ENSG00000164199 chr5:90647618-90647618;G/A missense_variant False ADGRV1@p.D5633N 1 0.13559322 ENSG00000164199 chr5:90840863-90840863;G/A missense_variant False ADGRV1@p.D5523Y 1 0.559748428 ENSG00000164199 chr5:90829142-90829142;G/T missense_variant False ADGRV1@p.D5492N 1 0.465116279 ENSG00000164199 chr5:90829049-90829049;G/A missense_variant False ADGRV1@p.D5206N 1 0.1 ENSG00000164199 chr5:90810876-90810876;G/A missense_variant False ADGRV1@p.D3749N 1 0.318181818 ENSG00000164199 chr5:90753697-90753697;G/A missense_variant False ADGRV1@p.D348N 1 0.246376812 ENSG00000164199 chr5:90627580-90627580;G/A missense_variant False ADGRV1@p.E401Q 1 0.159090909 ENSG00000164199 chr5:90627739-90627739;G/C missense_variant False ADGRV1@p.E416K 1 0.269230769 ENSG00000164199 chr5:90628569-90628569;G/A missense_variant False ADGRV1@p.E4325Q 1 0.318681319 ENSG00000164199 chr5:90778988-90778988;G/C missense_variant False ADGRV1@p.E4815K 1 0.636363636 ENSG00000164199 chr5:90791272-90791272;G/A missense_variant False ADGRV1@p.E4931Q 1 0.94 ENSG00000164199 chr5:90805413-90805413;G/C missense_variant False ADGRV1@p.E5461K 1 0.363636364 ENSG00000164199 chr5:90828956-90828956;G/A missense_variant False ADGRV1@p.F1157L 1 0.178343949 ENSG00000164199 chr5:90652398-90652398;T/C missense_variant False ADGRV1@p.G2278V 1 0.25 ENSG00000164199 chr5:90690923-90690923;G/T missense_variant False ADGRV1@p.G5032E 1 0.296296296 ENSG00000164199 chr5:90810355-90810355;G/A missense_variant False ADGRV1@p.H3971Y 1 0.302631579 ENSG00000164199 chr5:90757132-90757132;C/T missense_variant False ADGRV1@p.I6043N 1 0.484848485 ENSG00000164199 chr5:90985498-90985498;T/A missense_variant False ADGRV1@p.K527N 1 0.409090909 ENSG00000164199 chr5:90629281-90629281;G/T missense_variant False ADGRV1@p.L4745M 1 0.287356322 ENSG00000164199 chr5:90791062-90791062;C/A missense_variant False ADGRV1@p.M4329I 1 0.125 ENSG00000164199 chr5:90779002-90779002;G/A missense_variant False ADGRV1@p.M5653I 1 0.333333333 ENSG00000164199 chr5:90840925-90840925;G/A missense_variant False ADGRV1@p.N4786Y 1 0.454545455 ENSG00000164199 chr5:90791185-90791185;A/T missense_variant False ADGRV1@p.P2313S 1 0.144736842 ENSG00000164199 chr5:90691027-90691027;C/T missense_variant False ADIPOR1@p.Y353F 1 0.225806452 ENSG00000159346 chr1:202941643-202941643;T/A missense_variant False ADIPOR1@p.Y353N 1 0.229508197 ENSG00000159346 chr1:202941644-202941644;A/T missense_variant False ADIPOR2@p.S198L 1 0.119565217 ENSG00000006831 chr12:1780580-1780580;C/T missense_variant False ADRA2C@p.D195N 1 0.296296296 ENSG00000184160 chr4:3767189-3767189;G/A missense_variant False ADRB2@p.K372N 1 0.428571429 ENSG00000169252 chr5:148827947-148827947;A/C missense_variant False ADRB2@p.E249Q 1 0.21875 ENSG00000169252 chr5:148827576-148827576;G/C missense_variant False ADRB2@p.E237Q 1 0.056074766 ENSG00000169252 chr5:148827540-148827540;G/C missense_variant False ADRB1@p.F164L 1 0.434285714 ENSG00000043591 chr10:114044624-114044624;C/A missense_variant False ADRA2C@p.S346W 1 0.666666667 ENSG00000184160 chr4:3767643-3767643;C/G missense_variant False ADRA2C@p.E410K 1 0.5 ENSG00000184160 chr4:3767834-3767834;G/A missense_variant False ADRA2B@p.S420L 1 0.166666667 ENSG00000274286 chr2:96114891-96114891;G/A missense_variant False ADRA1B@p.E244Q 1 0.745098039 ENSG00000170214 chr5:159917635-159917635;G/C missense_variant False ADRA2A@p.S105L 1 0.147058824 ENSG00000150594 chr10:111078310-111078310;C/T missense_variant False ADRA2A@p.F131L 1 0.37037037 ENSG00000150594 chr10:111078389-111078389;C/G missense_variant False ADRA2A@p.E109K 1 0.407407407 ENSG00000150594 chr10:111078321-111078321;G/A missense_variant False ADRA1D@p.R336C 1 0.263157895 ENSG00000171873 chr20:4247952-4247952;G/A missense_variant False ADRA1D@p.G524R 1 0.333333333 ENSG00000171873 chr20:4221672-4221672;C/T missense_variant False ADRA1D@p.E552K 1 0.163265306 ENSG00000171873 chr20:4221588-4221588;C/T missense_variant False ADRB2@p.S396R 1 0.5 ENSG00000169252 chr5:148828019-148828019;C/A missense_variant False ADRM1@p.E318D 1 0.193548387 ENSG00000130706 chr20:62308118-62308118;G/C missense_variant False ADRM1@p.E81Q 1 0.290322581 ENSG00000130706 chr20:62304488-62304488;G/C missense_variant False ADRM1@p.P242Q 1 0.166666667 ENSG00000130706 chr20:62307697-62307697;C/A missense_variant False ADRM1@p.W61R 1 0.210526316 ENSG00000130706 chr20:62303749-62303749;T/C missense_variant False ADSL@p.D11H 1 0.3 ENSG00000239900 chr22:40346589-40346589;G/C missense_variant False ADSL@p.D223E 1 0.061818182 ENSG00000239900 chr22:40359274-40359274;C/G missense_variant False ADSL@p.G240E 1 0.32 ENSG00000239900 chr22:40360419-40360419;G/A missense_variant False ADSS1@p.E156K 1 0.17721519 ENSG00000185100 chr14:104739806-104739806;G/A missense_variant False ADSS1@p.E328K 1 0.516339869 ENSG00000185100 chr14:104743100-104743100;G/A missense_variant False ADSS1@p.G438A 1 0.203703704 ENSG00000185100 chr14:104746377-104746377;G/C missense_variant False ADSS1@p.I228M 1 0.913043478 ENSG00000185100 chr14:104741134-104741134;C/G missense_variant False ADSS2@p.E193Q 1 0.227272727 ENSG00000035687 chr1:244423957-244423957;C/G missense_variant False ADSS2@p.E214K 1 0.177777778 ENSG00000035687 chr1:244422858-244422858;C/T missense_variant False ADSS2@p.E41K 1 0.277777778 ENSG00000035687 chr1:244451697-244451697;C/T missense_variant False ADSS2@p.Q288E 1 0.243902439 ENSG00000035687 chr1:244418843-244418843;G/C missense_variant False ADTRP@p.Q26Gfs*24 1 0.444444444 ENSG00000111863 chr6:11778683-11778684;TG/- frameshift_variant False ADRA1D@p.E538D 1 0.278481013 ENSG00000171873 chr20:4221628-4221628;C/G missense_variant False ADRA1A@p.V311I 1 0.231707317 ENSG00000120907 chr8:26770619-26770619;C/T missense_variant False ADK@p.D46N 1 0.245614035 ENSG00000156110 chr10:74200834-74200834;G/A missense_variant False ADNP@p.E54K 1 0.104294479 ENSG00000101126 chr20:50902058-50902058;C/T missense_variant False ADORA1@p.A20V 1 0.170731707 ENSG00000163485 chr1:203128900-203128900;C/T missense_variant False ADNP@p.V822L 1 0.130841121 ENSG00000101126 chr20:50892250-50892250;C/A missense_variant False ADNP@p.T443P 1 0.050793651 ENSG00000101126 chr20:50893387-50893387;T/G missense_variant False ADNP@p.R767S 1 0.272727273 ENSG00000101126 chr20:50892413-50892413;C/A missense_variant False ADNP@p.E973Q 1 0.058201058 ENSG00000101126 chr20:50891797-50891797;C/G missense_variant False ADNP@p.E937K 1 0.215568862 ENSG00000101126 chr20:50891905-50891905;C/T missense_variant False ADNP2@p.R937C 1 0.307692308 ENSG00000101544 chr18:80138222-80138222;C/T missense_variant False ADRA1A@p.S188L 1 0.434782609 ENSG00000120907 chr8:26864407-26864407;G/A missense_variant False ADNP2@p.R1049H 1 0.184210526 ENSG00000101544 chr18:80138559-80138559;G/A missense_variant False ADNP2@p.K146* 1 0.229508197 ENSG00000101544 chr18:80135849-80135863;AAATCATCTAGGAGC/T frameshift_variant False ADNP2@p.I782M 1 0.142857143 ENSG00000101544 chr18:80137759-80137759;C/G missense_variant False ADM@p.R91Q 1 0.469387755 ENSG00000148926 chr11:10306355-10306355;G/A missense_variant False ADM@p.G113E 1 0.2 ENSG00000148926 chr11:10306421-10306421;G/A missense_variant False ADK@p.R249T 1 0.15 ENSG00000156110 chr10:74589301-74589301;G/C missense_variant False ADORA1@p.D305N 1 0.293103448 ENSG00000163485 chr1:203165832-203165832;G/A missense_variant False ADORA1@p.D325H 1 0.120689655 ENSG00000163485 chr1:203165892-203165892;G/C missense_variant False ADORA1@p.R296C 1 0.09375 ENSG00000163485 chr1:203165805-203165805;C/T missense_variant False ADORA2B@p.F59L 1 0.285714286 ENSG00000170425 chr17:15945425-15945425;C/A missense_variant False ADORA3@p.I27T 1 0.297297297 ENSG00000282608 chr1:111503275-111503275;A/G missense_variant False ADORA3@p.K119R 1 0.446808511 ENSG00000282608 chr1:111500551-111500551;T/C missense_variant False ADORA3@p.S306P 1 0.216216216 ENSG00000282608 chr1:111499991-111499991;A/G missense_variant False ADPGK@p.E117K 1 0.236842105 ENSG00000159322 chr15:72774982-72774982;C/T missense_variant False ADPGK@p.E130Q 1 0.28125 ENSG00000159322 chr15:72774943-72774943;C/G missense_variant False ADPRH@p.A296D 1 0.422535211 ENSG00000144843 chr3:119587691-119587691;C/A missense_variant False ADPRM@p.E297K 1 0.140625 ENSG00000170222 chr17:10711004-10711004;G/A missense_variant False ADPRM@p.E57K 1 0.132075472 ENSG00000170222 chr17:10705095-10705095;G/A missense_variant False ADPRM@p.G109E 1 0.070707071 ENSG00000170222 chr17:10705252-10705252;G/A missense_variant False ADPRM@p.M184I 1 0.545454545 ENSG00000170222 chr17:10705478-10705478;G/T missense_variant False ADPRS@p.E97K 1 0.269230769 ENSG00000116863 chr1:36091321-36091321;G/A missense_variant False ADRA1A@p.C328Y 1 0.675862069 ENSG00000120907 chr8:26770567-26770567;C/T missense_variant False ADRA1A@p.F385L 1 0.461864407 ENSG00000120907 chr8:26770395-26770395;G/T missense_variant False ADGRV1@p.D2192N 1 0.096774194 ENSG00000164199 chr5:90689944-90689944;G/A missense_variant False ADGRL4@p.T448Yfs*7 1 0.173469388 ENSG00000162618 chr1:78920302-78920303;-/A frameshift_variant False ADGRL4@p.S668Y 1 0.27027027 ENSG00000162618 chr1:78891531-78891531;G/T missense_variant False ADGRG1@p.S567C 1 0.175 ENSG00000205336 chr16:57661714-57661714;C/G missense_variant False ADGRG2@p.P274R 1 0.421052632 ENSG00000173698 chrX:19013964-19013964;G/C missense_variant False ADGRG2@p.N498S 1 0.452380952 ENSG00000173698 chrX:19008053-19008053;T/C missense_variant False ADGRG2@p.H952Q 1 0.212765957 ENSG00000173698 chrX:18994909-18994909;G/C missense_variant False ADGRG2@p.H502Y 1 0.307692308 ENSG00000173698 chrX:19008042-19008042;G/A missense_variant False ADGRG2@p.H31Y 1 0.791411043 ENSG00000173698 chrX:19068744-19068744;G/A missense_variant False ADGRG1@p.W238R 1 0.117241379 ENSG00000205336 chr16:57654077-57654077;T/C missense_variant False ADGRG1@p.Q147E 1 0.19047619 ENSG00000205336 chr16:57651574-57651574;C/G missense_variant False ADGRF5@p.R1312I 1 0.4 ENSG00000069122 chr6:46856000-46856000;C/A missense_variant False ADGRG1@p.P433L 1 0.142857143 ENSG00000205336 chr16:57659406-57659406;C/T missense_variant False ADGRG1@p.N148Hfs*137 1 0.115384615 ENSG00000205336 chr16:57651575-57651576;AG/- frameshift_variant False ADGRG1@p.L101F 1 0.215909091 ENSG00000205336 chr16:57651438-57651438;A/T missense_variant False ADGRG1@p.D83Y 1 0.913043478 ENSG00000205336 chr16:57651382-57651382;G/T missense_variant False ADGRF5@p.T258I 1 0.064102564 ENSG00000069122 chr6:46881496-46881496;G/A missense_variant False ADGRF5@p.S320L 1 0.254385965 ENSG00000069122 chr6:46879895-46879895;G/A missense_variant False ADGRG2@p.R999S 1 0.271428571 ENSG00000173698 chrX:18990923-18990923;G/T missense_variant False ADGRG2@p.S940C 1 0.590909091 ENSG00000173698 chrX:18994946-18994946;G/C missense_variant False ADGRG2@p.V726L 1 0.442622951 ENSG00000173698 chrX:19002900-19002900;C/A missense_variant False ADGRG2@p.W779C 1 0.225 ENSG00000173698 chrX:18999273-18999273;C/G missense_variant False ADGRG3@p.D129H 1 0.144329897 ENSG00000182885 chr16:57678209-57678209;G/C missense_variant False ADGRG3@p.F345L 1 0.183673469 ENSG00000182885 chr16:57684085-57684085;C/A missense_variant False ADGRG3@p.F509L 1 0.42 ENSG00000182885 chr16:57685913-57685913;C/G missense_variant False ADGRG3@p.R270S 1 0.258503401 ENSG00000182885 chr16:57680544-57680544;C/A missense_variant False ADGRG3@p.S483W 1 0.298507463 ENSG00000182885 chr16:57685834-57685834;C/G missense_variant False ADGRG4@p.A1636T 1 0.778409091 ENSG00000156920 chrX:136348612-136348612;G/A missense_variant False ADGRG4@p.D1134N 1 0.238095238 ENSG00000156920 chrX:136347106-136347106;G/A missense_variant False ADGRG4@p.D2419Y 1 0.181818182 ENSG00000156920 chrX:136361565-136361565;G/T missense_variant False ADGRG4@p.D2470G 1 0.3 ENSG00000156920 chrX:136371340-136371340;A/G missense_variant False ADGRG4@p.E1276Q 1 0.340909091 ENSG00000156920 chrX:136347532-136347532;G/C missense_variant False ADGRG4@p.E2505Q 1 0.09375 ENSG00000156920 chrX:136371444-136371444;G/C missense_variant False ADGRG4@p.E653D 1 0.145454545 ENSG00000156920 chrX:136345665-136345665;G/C missense_variant False ADGRG4@p.E688Q 1 0.645833333 ENSG00000156920 chrX:136345768-136345768;G/C missense_variant False ADGRF5@p.R175K 1 0.384615385 ENSG00000069122 chr6:46883647-46883647;C/T missense_variant False ADGRF5@p.P672T 1 0.326923077 ENSG00000069122 chr6:46863073-46863073;G/T missense_variant False ADGRG4@p.G180D 1 0.076388889 ENSG00000156920 chrX:136323246-136323246;G/A missense_variant False ADGRE3@p.R412L 1 0.266666667 ENSG00000131355 chr19:14641432-14641432;C/A missense_variant False ADGRF1@p.D731H 1 0.222222222 ENSG00000153292 chr6:47009244-47009244;C/G missense_variant False ADGRE5@p.R682T 1 0.4375 ENSG00000123146 chr19:14406554-14406554;G/C missense_variant False ADGRE5@p.P349S 1 0.115384615 ENSG00000123146 chr19:14401533-14401533;C/T missense_variant False ADGRE5@p.E689Q 1 0.151639344 ENSG00000123146 chr19:14406716-14406716;G/C missense_variant False ADGRE5@p.E119K 1 0.232142857 ENSG00000123146 chr19:14396350-14396350;G/A missense_variant False ADGRE3@p.W612S 1 0.357142857 ENSG00000131355 chr19:14625577-14625577;C/G missense_variant False ADGRE3@p.L530F 1 0.078947368 ENSG00000131355 chr19:14632974-14632974;C/G missense_variant False ADGRF5@p.M572I 1 0.512820513 ENSG00000069122 chr6:46867043-46867043;C/T missense_variant False ADGRE2@p.S576L 1 0.153846154 ENSG00000127507 chr19:14752390-14752390;G/A missense_variant False ADGRE2@p.S275N 1 0.246575342 ENSG00000127507 chr19:14765528-14765528;C/T missense_variant False ADGRE2@p.R247I 1 0.110091743 ENSG00000127507 chr19:14765699-14765699;C/A missense_variant False ADGRE2@p.I301V 1 0.2 ENSG00000127507 chr19:14765325-14765325;T/C missense_variant False ADGRE2@p.G488S 1 0.389534884 ENSG00000127507 chr19:14755082-14755082;C/T missense_variant False ADGRE2@p.G316E 1 0.210526316 ENSG00000127507 chr19:14764570-14764570;C/T missense_variant False ADGRF1@p.I581M 1 0.183098592 ENSG00000153292 chr6:47009692-47009692;G/C missense_variant False ADGRF1@p.L604P 1 0.125 ENSG00000153292 chr6:47009624-47009624;A/G missense_variant False ADGRF1@p.Q448E 1 0.416666667 ENSG00000153292 chr6:47010093-47010093;G/C missense_variant False ADGRF1@p.S877L 1 0.294117647 ENSG00000153292 chr6:47001530-47001530;G/A missense_variant False ADGRF2@p.D115Y 1 0.392156863 None chr6:47679006-47679006;G/T missense_variant False ADGRF2@p.Q474L 1 0.514285714 None chr6:47681980-47681980;A/T missense_variant False ADGRF3@p.E140K 1 0.615384615 ENSG00000173567 chr2:26316996-26316996;C/T missense_variant False ADGRF4@p.K137N 1 0.163265306 ENSG00000153294 chr6:47712467-47712467;G/C missense_variant False ADGRF4@p.K27N 1 0.426829268 ENSG00000153294 chr6:47707326-47707326;G/T missense_variant False ADGRF4@p.N233S 1 0.287128713 ENSG00000153294 chr6:47713943-47713943;A/G missense_variant False ADGRF4@p.R545S 1 0.176470588 ENSG00000153294 chr6:47714880-47714880;A/C missense_variant False ADGRF4@p.Y543C 1 0.634453782 ENSG00000153294 chr6:47714873-47714873;A/G missense_variant False ADGRF5@p.C1162F 1 0.228070175 ENSG00000069122 chr6:46858418-46858418;C/A missense_variant False ADGRF5@p.D840E 1 0.519230769 ENSG00000069122 chr6:46859383-46859383;A/C missense_variant False ADGRF5@p.E501D 1 0.414634146 ENSG00000069122 chr6:46869001-46869001;C/G missense_variant False ADGRF5@p.L137V 1 0.042553191 ENSG00000069122 chr6:46884191-46884191;G/C missense_variant False ADGRF5@p.L193F 1 0.134615385 ENSG00000069122 chr6:46883594-46883594;G/A missense_variant False ADGRG4@p.F2958Lfs*6 1 0.185430464 ENSG00000156920 chrX:136405906-136405906;T/- frameshift_variant False ADGRG4@p.K399N 1 0.857142857 ENSG00000156920 chrX:136344903-136344903;G/C missense_variant False ADGRL4@p.R598C 1 0.266666667 ENSG00000162618 chr1:78893147-78893147;G/A missense_variant False ADGRL2@p.Q165E 1 0.13592233 ENSG00000117114 chr1:81943064-81943064;C/G missense_variant False ADGRL3@p.G790R 1 0.3125 ENSG00000150471 chr4:61935994-61935994;G/A missense_variant False ADGRL3@p.F1179L 1 0.583333333 ENSG00000150471 chr4:62031556-62031556;C/G missense_variant False ADGRL3@p.F1019L 1 0.210526316 ENSG00000150471 chr4:61983424-61983424;C/A missense_variant False ADGRL3@p.A555T 1 0.419354839 ENSG00000150471 chr4:61892838-61892838;G/A missense_variant False ADGRL2@p.V379M 1 0.204918033 ENSG00000117114 chr1:81943706-81943706;G/A missense_variant False ADGRL2@p.S1130C 1 0.146067416 ENSG00000117114 chr1:81984701-81984701;C/G missense_variant False ADGRL2@p.P516R 1 0.225490196 ENSG00000117114 chr1:81951072-81951072;C/G missense_variant False ADGRL2@p.F172L 1 0.198019802 ENSG00000117114 chr1:81943087-81943087;C/G missense_variant False ADGRL2@p.I971T 1 0.235294118 ENSG00000117114 chr1:81970504-81970504;T/C missense_variant False ADGRL2@p.I1006M 1 0.290322581 ENSG00000117114 chr1:81979877-81979877;T/G missense_variant False ADGRL2@p.H833R 1 0.12 ENSG00000117114 chr1:81968186-81968186;A/G missense_variant False ADGRL2@p.G552R 1 0.410958904 ENSG00000117114 chr1:81952014-81952014;G/C missense_variant False ADGRL2@p.G1446A 1 0.526315789 ENSG00000117114 chr1:81991102-81991102;G/C missense_variant False ADGRL2@p.G1106V 1 0.453333333 ENSG00000117114 chr1:81984629-81984629;G/T missense_variant False ADGRL3@p.I296L 1 0.382352941 ENSG00000150471 chr4:61733041-61733041;A/T missense_variant False ADGRL3@p.I875M 1 0.272727273 ENSG00000150471 chr4:61947119-61947119;C/G missense_variant False ADGRL3@p.I986M 1 0.068493151 ENSG00000150471 chr4:61979715-61979715;C/G missense_variant False ADGRL3@p.I999F 1 0.233870968 ENSG00000150471 chr4:61979752-61979752;A/T missense_variant False ADGRL3@p.L1150V 1 0.130841121 ENSG00000150471 chr4:62031467-62031467;C/G missense_variant False ADGRL3@p.L562H 1 0.538461538 ENSG00000150471 chr4:61892860-61892860;T/A missense_variant False ADGRL3@p.R1207Q 1 0.705263158 ENSG00000150471 chr4:62037759-62037759;G/A missense_variant False ADGRL3@p.S1218N 1 0.053030303 ENSG00000150471 chr4:62037792-62037792;G/A missense_variant False ADGRL3@p.S1226C 1 0.452380952 ENSG00000150471 chr4:62037816-62037816;C/G missense_variant False ADGRL3@p.S485F 1 0.076923077 ENSG00000150471 chr4:61813863-61813863;C/T missense_variant False ADGRL3@p.S887L 1 0.235294118 ENSG00000150471 chr4:61948131-61948131;C/T missense_variant False ADGRL3@p.S892P 1 0.347826087 ENSG00000150471 chr4:61948145-61948145;T/C missense_variant False ADGRL4@p.D323N 1 0.123076923 ENSG00000162618 chr1:78927002-78927002;C/T missense_variant False ADGRL4@p.E145Q 1 0.419354839 ENSG00000162618 chr1:78938243-78938243;C/G missense_variant False ADGRL4@p.E567K 1 0.2 ENSG00000162618 chr1:78917684-78917684;C/T missense_variant False ADGRL4@p.G306S 1 0.13740458 ENSG00000162618 chr1:78927053-78927053;C/T missense_variant False ADGRL4@p.L466I 1 0.351648352 ENSG00000162618 chr1:78920248-78920248;G/T missense_variant False ADGRL2@p.F790L 1 0.131868132 ENSG00000117114 chr1:81968058-81968058;C/G missense_variant False ADGRL2@p.D88Vfs*6 1 0.238410596 ENSG00000117114 chr1:81907206-81907206;A/- frameshift_variant False ADGRG4@p.L509F 1 0.215053763 ENSG00000156920 chrX:136345231-136345231;C/T missense_variant False ADGRG5@p.C10R 1 0.304 ENSG00000159618 chr16:57562121-57562121;T/C missense_variant False ADGRG6@p.G1052D 1 0.292682927 ENSG00000112414 chr6:142419940-142419940;G/A missense_variant False ADGRG6@p.E1062K 1 0.258064516 ENSG00000112414 chr6:142419969-142419969;G/A missense_variant False ADGRG5@p.T423M 1 0.140350877 ENSG00000159618 chr16:57574874-57574874;C/T missense_variant False ADGRG5@p.S263L 1 0.408163265 ENSG00000159618 chr16:57567558-57567558;C/T missense_variant False ADGRG5@p.L94V 1 0.376344086 ENSG00000159618 chr16:57563230-57563230;C/G missense_variant False ADGRG5@p.H412Y 1 0.228571429 ENSG00000159618 chr16:57574840-57574840;C/T missense_variant False ADGRG4@p.V2494G 1 0.371428571 ENSG00000156920 chrX:136371412-136371412;T/G missense_variant False ADGRL2@p.D88Rfs*27 1 0.265822785 ENSG00000117114 chr1:81907203-81907204;-/T frameshift_variant False ADGRG4@p.S974L 1 0.391666667 ENSG00000156920 chrX:136346627-136346627;C/T missense_variant False ADGRG4@p.S547F 1 0.256756757 ENSG00000156920 chrX:136345346-136345346;C/T missense_variant False ADGRG4@p.S389L 1 0.438356164 ENSG00000156920 chrX:136344872-136344872;C/T missense_variant False ADGRG4@p.S1993C 1 0.313953488 ENSG00000156920 chrX:136349684-136349684;C/G missense_variant False ADGRG4@p.S1023C 1 0.23 ENSG00000156920 chrX:136346774-136346774;C/G missense_variant False ADGRG4@p.L731F 1 0.638297872 ENSG00000156920 chrX:136345899-136345899;G/C missense_variant False ADGRG6@p.K219N 1 0.255319149 ENSG00000112414 chr6:142370381-142370381;G/C missense_variant False ADGRG6@p.N206D 1 0.38 ENSG00000112414 chr6:142370340-142370340;A/G missense_variant False ADGRG6@p.N93S 1 0.375 ENSG00000112414 chr6:142367743-142367743;A/G missense_variant False ADGRG6@p.S879L 1 0.245901639 ENSG00000112414 chr6:142415063-142415063;C/T missense_variant False ADGRG7@p.E783K 1 0.173469388 ENSG00000144820 chr3:100694954-100694954;G/A missense_variant False ADGRG7@p.Q308E 1 0.615384615 ENSG00000144820 chr3:100643609-100643609;C/G missense_variant False ADGRG7@p.Q456E 1 0.402597403 ENSG00000144820 chr3:100649794-100649794;C/G missense_variant False ADGRG7@p.R194K 1 0.384615385 ENSG00000144820 chr3:100635810-100635810;G/A missense_variant False ADGRL1@p.C1117S 1 0.276923077 ENSG00000072071 chr19:14152873-14152873;A/T missense_variant False ADGRL1@p.E59Q 1 0.307692308 ENSG00000072071 chr19:14177640-14177640;C/G missense_variant False ADGRL1@p.E750K 1 0.257575758 ENSG00000072071 chr19:14158469-14158469;C/T missense_variant False ADGRL1@p.P365R 1 0.057803468 ENSG00000072071 chr19:14162722-14162722;G/C missense_variant False ADGRL1@p.Q294H 1 0.22 ENSG00000072071 chr19:14162934-14162934;C/G missense_variant False ADGRL1@p.S330C 1 0.260869565 ENSG00000072071 chr19:14162827-14162827;G/C missense_variant False ADGRL2@p.C861S 1 0.330578512 ENSG00000117114 chr1:81969248-81969248;G/C missense_variant False ADGRL2@p.D1349H 1 0.21875 ENSG00000117114 chr1:81990810-81990810;G/C missense_variant False ADGRL2@p.D88H 1 0.191176471 ENSG00000117114 chr1:81907205-81907205;G/C missense_variant False AEBP1@p.E799K 1 0.181818182 ENSG00000106624 chr7:44112735-44112735;G/A missense_variant False AEBP1@p.R1000Q 1 0.052631579 ENSG00000106624 chr7:44113783-44113783;G/A missense_variant False ADGRE1@p.S372F 1 0.171428571 ENSG00000174837 chr19:6908765-6908765;C/T missense_variant False AGL@p.E1527Q 1 0.178571429 ENSG00000162688 chr1:99921631-99921631;G/C missense_variant False AGL@p.P339T 1 0.409836066 ENSG00000162688 chr1:99874743-99874743;C/A missense_variant False AGL@p.L1526I 1 0.567567568 ENSG00000162688 chr1:99921628-99921628;C/A missense_variant False AGL@p.G464A 1 0.266666667 ENSG00000162688 chr1:99876565-99876565;G/C missense_variant False AGL@p.G1456V 1 0.084745763 ENSG00000162688 chr1:99916617-99916617;G/T missense_variant False AGL@p.G1426V 1 0.3125 ENSG00000162688 chr1:99916427-99916427;G/T missense_variant False AGL@p.F23L 1 0.217391304 ENSG00000162688 chr1:99851111-99851111;C/G missense_variant False AGL@p.C1048F 1 0.280701754 ENSG00000162688 chr1:99892491-99892491;G/T missense_variant False AGL@p.Q1031H 1 0.166666667 ENSG00000162688 chr1:99892441-99892441;G/C missense_variant False AGL@p.A1319P 1 0.285714286 ENSG00000162688 chr1:99913532-99913532;G/C missense_variant False AGGF1@p.T480I 1 0.137931034 ENSG00000164252 chr5:77052779-77052779;C/T missense_variant False AGGF1@p.R566Q 1 0.183098592 ENSG00000164252 chr5:77055577-77055577;G/A missense_variant False AGGF1@p.M316I 1 0.224852071 ENSG00000164252 chr5:77046424-77046424;G/A missense_variant False AGGF1@p.L178_T180delinsS 1 0.224489796 ENSG00000164252 chr5:77036572-77036577;TAGCAA/- inframe_deletion False AGGF1@p.I239V 1 0.294117647 ENSG00000164252 chr5:77039564-77039564;A/G missense_variant False AGL@p.Q1031E 1 0.140350877 ENSG00000162688 chr1:99892439-99892439;C/G missense_variant False AGL@p.R469Q 1 0.514705882 ENSG00000162688 chr1:99876580-99876580;G/A missense_variant False AEBP1@p.R831C 1 0.147058824 ENSG00000106624 chr7:44112831-44112831;C/T missense_variant False AGO1@p.M362I 1 0.125 ENSG00000092847 chr1:35901539-35901539;G/C missense_variant False AGO2@p.H600Y 1 0.402489627 ENSG00000123908 chr8:140544254-140544254;G/A missense_variant False AGO2@p.G96S 1 0.141304348 ENSG00000123908 chr8:140572862-140572862;C/T missense_variant False AGO2@p.E157K 1 0.221374046 ENSG00000123908 chr8:140562502-140562502;C/T missense_variant False AGO2@p.D125N 1 0.184331797 ENSG00000123908 chr8:140562598-140562598;C/T missense_variant False AGO2@p.A686Pfs*9 1 0.175 ENSG00000123908 chr8:140539433-140539433;C/- frameshift_variant False AGO1@p.Q586E 1 0.754010695 ENSG00000092847 chr1:35914197-35914197;C/G missense_variant False AGO1@p.K507N 1 0.181818182 ENSG00000092847 chr1:35907058-35907058;G/C missense_variant False AGL@p.S88Y 1 0.176923077 ENSG00000162688 chr1:99861683-99861683;C/A missense_variant False AGO1@p.I483L 1 0.428571429 ENSG00000092847 chr1:35906984-35906984;A/C missense_variant False AGO1@p.E671K 1 0.480769231 ENSG00000092847 chr1:35915525-35915525;G/A missense_variant False AGO1@p.E184Q 1 0.526315789 ENSG00000092847 chr1:35893711-35893711;G/C missense_variant False AGMO@p.S296F 1 0.256410256 ENSG00000187546 chr7:15387476-15387476;G/A missense_variant False AGMO@p.L61V 1 0.105263158 ENSG00000187546 chr7:15560217-15560217;G/C missense_variant False AGMAT@p.E69K 1 0.342857143 ENSG00000116771 chr1:15584763-15584763;C/T missense_variant False AGGF1@p.G599E 1 0.228070175 ENSG00000164252 chr5:77059695-77059695;G/A missense_variant False AGGF1@p.D521N 1 0.349514563 ENSG00000164252 chr5:77054058-77054058;G/A missense_variant False AGGF1@p.D365N 1 0.619631902 ENSG00000164252 chr5:77046569-77046569;G/A missense_variant False AGAP6@p.H177R 1 0.177631579 ENSG00000204149 chr10:50008724-50008724;A/G missense_variant False AGBL1@p.S444C 1 0.285714286 ENSG00000273540 chr15:86264502-86264502;C/G missense_variant False AGBL1@p.R158H 1 0.166666667 ENSG00000273540 chr15:86159011-86159011;G/A missense_variant False AGBL1@p.M1031I 1 0.625 ENSG00000273540 chr15:86674308-86674308;G/A missense_variant False AGBL1@p.H538Q 1 0.390625 ENSG00000273540 chr15:86264785-86264785;C/A missense_variant False AGBL1@p.E490K 1 0.455223881 ENSG00000273540 chr15:86264639-86264639;G/A missense_variant False AGBL1@p.A129V 1 0.363636364 ENSG00000273540 chr15:86154553-86154553;C/T missense_variant False AGAP6@p.E100Q 1 0.205882353 ENSG00000204149 chr10:49994400-49994400;G/C missense_variant False AGFG2@p.P164L 1 0.061538462 ENSG00000106351 chr7:100553406-100553406;C/T missense_variant False AGAP6@p.D515N 1 0.247272727 ENSG00000204149 chr10:50009737-50009737;G/A missense_variant False AGAP6@p.D298V 1 0.369127517 ENSG00000204149 chr10:50009087-50009087;A/T missense_variant False AGAP6@p.C122F 1 0.035271687 ENSG00000204149 chr10:50002033-50002033;G/T missense_variant False AGAP4@p.W277C 1 0.063492063 ENSG00000188234 chr10:45827076-45827076;C/G missense_variant False AGAP4@p.S94F 1 0.166666667 ENSG00000188234 chr10:45844337-45844337;G/A missense_variant False AGAP4@p.H455R 1 0.100671141 ENSG00000188234 chr10:45826543-45826543;T/C missense_variant False AGBL1@p.S481C 1 0.503937008 ENSG00000273540 chr15:86264613-86264613;C/G missense_variant False AGBL1@p.T155N 1 0.151515152 ENSG00000273540 chr15:86159002-86159002;C/A missense_variant False AGBL2@p.C185S 1 0.309278351 ENSG00000165923 chr11:47704575-47704575;C/G missense_variant False AGBL2@p.E235Q 1 0.212121212 ENSG00000165923 chr11:47692248-47692248;C/G missense_variant False AGBL2@p.L149I 1 0.38317757 ENSG00000165923 chr11:47704684-47704684;G/T missense_variant False AGBL2@p.V225I 1 0.225490196 ENSG00000165923 chr11:47699467-47699467;C/T missense_variant False AGBL5@p.D163N 1 0.179775281 ENSG00000084693 chr2:27053995-27053995;G/A missense_variant False AGBL5@p.D488N 1 0.097222222 ENSG00000084693 chr2:27056719-27056719;G/A missense_variant False AGBL5@p.D51N 1 0.3203125 ENSG00000084693 chr2:27053109-27053109;G/A missense_variant False AGBL5@p.D534N 1 0.125 ENSG00000084693 chr2:27057367-27057367;G/A missense_variant False AGBL5@p.E145K 1 0.157142857 ENSG00000084693 chr2:27053941-27053941;G/A missense_variant False AGBL5@p.E33K 1 0.254237288 ENSG00000084693 chr2:27053055-27053055;G/A missense_variant False AGBL5@p.R281H 1 0.226415094 ENSG00000084693 chr2:27055187-27055187;G/A missense_variant False AGBL5@p.R783Q 1 0.522727273 ENSG00000084693 chr2:27068737-27068737;G/A missense_variant False AGBL5@p.V874F 1 0.385542169 ENSG00000084693 chr2:27070222-27070222;G/T missense_variant False AGER@p.E94K 1 0.077586207 ENSG00000204305 chr6:32183630-32183630;C/T missense_variant False AGFG1@p.Q303Rfs*31 1 0.303797468 ENSG00000173744 chr2:227533639-227533639;C/- frameshift_variant False AGO2@p.M275I 1 0.213333333 ENSG00000123908 chr8:140558538-140558538;C/T missense_variant False AGO3@p.E466K 1 0.087804878 ENSG00000126070 chr1:36014038-36014038;G/A missense_variant False AGO3@p.E503Q 1 0.2 ENSG00000126070 chr1:36027214-36027214;G/C missense_variant False AGTPBP1@p.E1125K 1 0.267716535 ENSG00000135049 chr9:85575445-85575445;C/T missense_variant False AGTPBP1@p.R970C 1 0.104477612 ENSG00000135049 chr9:85586956-85586956;G/A missense_variant False AGTPBP1@p.Q24E 1 0.111111111 ENSG00000135049 chr9:85692776-85692776;G/C missense_variant False AGTPBP1@p.Q1110K 1 0.371428571 ENSG00000135049 chr9:85578934-85578934;G/T missense_variant False AGTPBP1@p.L80V 1 0.444444444 ENSG00000135049 chr9:85678386-85678386;G/C missense_variant False AGTPBP1@p.G1094A 1 0.055045872 ENSG00000135049 chr9:85578981-85578981;C/G missense_variant False AGTPBP1@p.E417K 1 0.711111111 ENSG00000135049 chr9:85642880-85642880;C/T missense_variant False AGTPBP1@p.D242H 1 0.425 ENSG00000135049 chr9:85657620-85657620;C/G missense_variant False AGRN@p.R1461W 1 0.390243902 ENSG00000188157 chr1:1049318-1049318;C/T missense_variant False AGTPBP1@p.A240S 1 0.166666667 ENSG00000135049 chr9:85657626-85657626;C/A missense_variant False AGT@p.S351P 1 0.265822785 ENSG00000135744 chr1:230706006-230706006;A/G missense_variant False AGT@p.G317D 1 0.348837209 ENSG00000135744 chr1:230706107-230706107;C/T missense_variant False AGT@p.E441K 1 0.298245614 ENSG00000135744 chr1:230703278-230703278;C/T missense_variant False AGT@p.E433K 1 0.128712871 ENSG00000135744 chr1:230703302-230703302;C/T missense_variant False AGRP@p.F116L 1 0.24137931 ENSG00000159723 chr16:67482687-67482687;G/C missense_variant False AGTPBP1@p.S1083Y 1 0.361445783 ENSG00000135049 chr9:85579014-85579014;G/T missense_variant False AGTR1@p.H327Q 1 0.059701493 ENSG00000144891 chr3:148742016-148742016;C/G missense_variant False AGTR1@p.R340H 1 0.451612903 ENSG00000144891 chr3:148742054-148742054;G/A missense_variant False AGTR2@p.D45Y 1 0.954545455 ENSG00000180772 chrX:116172413-116172413;G/T missense_variant False AGTR2@p.R154I 1 0.911764706 ENSG00000180772 chrX:116172741-116172741;G/T missense_variant False AGTR2@p.S174F 1 0.335664336 ENSG00000180772 chrX:116172801-116172801;C/T missense_variant False AGTR2@p.S331I 1 0.404040404 ENSG00000180772 chrX:116173272-116173272;G/T missense_variant False AGXT2@p.P145A 1 0.272727273 ENSG00000113492 chr5:35036995-35036995;G/C missense_variant False AGXT2@p.R502C 1 0.507936508 ENSG00000113492 chr5:34998760-34998760;G/A missense_variant False AGXT@p.F68I 1 0.226415094 ENSG00000172482 chr2:240869206-240869206;T/A missense_variant False AHCTF1@p.D568H 1 0.173076923 ENSG00000153207 chr1:246898234-246898234;C/G missense_variant False AHCTF1@p.E1204Q 1 0.102803738 ENSG00000153207 chr1:246863959-246863959;C/G missense_variant False AHCTF1@p.E1325K 1 0.340425532 ENSG00000153207 chr1:246861163-246861163;C/T missense_variant False AHCTF1@p.E455K 1 0.262295082 ENSG00000153207 chr1:246900239-246900239;C/T missense_variant False AHCTF1@p.E746Q 1 0.083018868 ENSG00000153207 chr1:246889979-246889979;C/G missense_variant False AHCTF1@p.G86D 1 0.210526316 ENSG00000153207 chr1:246916365-246916365;C/T missense_variant False AHCTF1@p.K1850N 1 0.153846154 ENSG00000153207 chr1:246850561-246850561;C/G missense_variant False AGRN@p.T586A 1 0.288135593 ENSG00000188157 chr1:1043690-1043690;A/G missense_variant False AGRN@p.R1225Q 1 0.393939394 ENSG00000188157 chr1:1047818-1047818;G/A missense_variant False AGO3@p.G274R 1 0.277777778 ENSG00000126070 chr1:36008716-36008716;G/A missense_variant False AGO4@p.D491G 1 0.532608696 ENSG00000134698 chr1:35834082-35834082;A/G missense_variant False AGPAT2@p.S260C 1 0.444444444 ENSG00000169692 chr9:136673810-136673810;G/C missense_variant False AGPAT1@p.M113I 1 0.076923077 ENSG00000204310 chr6:32170596-32170596;C/T missense_variant False AGPAT1@p.G153W 1 0.244897959 ENSG00000204310 chr6:32170478-32170478;C/A missense_variant False AGO4@p.R649Q 1 0.118421053 ENSG00000134698 chr1:35841386-35841386;G/A missense_variant False AGO4@p.E675Q 1 0.415584416 ENSG00000134698 chr1:35841463-35841463;G/C missense_variant False AGO4@p.E675K 1 0.337662338 ENSG00000134698 chr1:35841463-35841463;G/A missense_variant False AGO3@p.S124L 1 0.342857143 ENSG00000126070 chr1:35972082-35972082;C/T missense_variant False AGRN@p.K91E 1 0.322580645 ENSG00000188157 chr1:1022270-1022270;A/G missense_variant False AGO3@p.R439Q 1 0.127272727 ENSG00000126070 chr1:36013958-36013958;G/A missense_variant False AGO3@p.Q361E 1 0.305084746 ENSG00000126070 chr1:36009526-36009526;C/G missense_variant False AGO3@p.L843V 1 0.214285714 ENSG00000126070 chr1:36055689-36055689;C/G missense_variant False AGO3@p.I125M 1 0.655172414 ENSG00000126070 chr1:35972086-35972086;C/G missense_variant False AGO3@p.H817Y 1 0.263157895 ENSG00000126070 chr1:36055120-36055120;C/T missense_variant False AGO3@p.H767Y 1 0.351851852 ENSG00000126070 chr1:36054970-36054970;C/T missense_variant False AGPAT3@p.E72Q 1 0.225 ENSG00000160216 chr21:43967981-43967981;G/C missense_variant False AGPAT3@p.G333E 1 0.114503817 ENSG00000160216 chr21:43981143-43981143;G/A missense_variant False AGPAT3@p.L197P 1 0.402597403 ENSG00000160216 chr21:43970732-43970732;T/C missense_variant False AGPAT4@p.P206L 1 0.461538462 ENSG00000026652 chr6:161153393-161153393;G/A missense_variant False AGPAT4@p.R331S 1 0.239263804 ENSG00000026652 chr6:161139471-161139471;C/G missense_variant False AGPS@p.I381M 1 0.164179104 ENSG00000018510 chr2:177482096-177482096;C/G missense_variant False AGPS@p.S174L 1 0.061538462 ENSG00000018510 chr2:177436843-177436843;C/T missense_variant False AGPS@p.S632C 1 0.269230769 ENSG00000018510 chr2:177538113-177538113;C/G missense_variant False AGR2@p.S36F 1 0.186813187 ENSG00000106541 chr7:16801690-16801690;G/A missense_variant False AGR3@p.K107N 1 0.513513514 ENSG00000173467 chr7:16861430-16861430;C/A missense_variant False AGR3@p.R160K 1 0.178571429 ENSG00000173467 chr7:16859604-16859604;C/T missense_variant False AGRN@p.D170N 1 0.164383562 ENSG00000188157 chr1:1035321-1035321;G/A missense_variant False AGRN@p.D839N 1 0.130434783 ENSG00000188157 chr1:1045502-1045502;G/A missense_variant False AGRN@p.E1473K 1 0.270833333 ENSG00000188157 chr1:1049354-1049354;G/A missense_variant False AGRN@p.E728D 1 0.1875 ENSG00000188157 chr1:1044369-1044369;G/C missense_variant False AGRN@p.G1002Rfs*58 1 0.384615385 ENSG00000188157 chr1:1046480-1046481;-/C frameshift_variant False AGRN@p.G803S 1 0.194444444 ENSG00000188157 chr1:1045394-1045394;G/A missense_variant False AGAP3@p.T510A 1 0.428571429 ENSG00000133612 chr7:151138283-151138283;A/G missense_variant False AGAP3@p.S472F 1 0.258064516 ENSG00000133612 chr7:151138170-151138170;C/T missense_variant False AGAP3@p.P270_S273del 1 0.11 ENSG00000133612 chr7:151118574-151118585;ACTCGCCCAGCC/- inframe_deletion False AFF1@p.E687K 1 0.161290323 ENSG00000172493 chr4:87114913-87114913;G/A missense_variant False AFF1@p.R735G 1 0.325581395 ENSG00000172493 chr4:87115057-87115057;C/G missense_variant False AFF1@p.P758S 1 0.338888889 ENSG00000172493 chr4:87115126-87115126;C/T missense_variant False AFF1@p.P758Q 1 0.096153846 ENSG00000172493 chr4:87115127-87115127;C/A missense_variant False AFF1@p.L327F 1 0.287671233 ENSG00000172493 chr4:87047537-87047537;G/C missense_variant False AFF1@p.I1095V 1 0.391304348 ENSG00000172493 chr4:87132401-87132401;A/G missense_variant False AFF1@p.H76Y 1 0.204705882 ENSG00000172493 chr4:87046782-87046782;C/T missense_variant False AFF1@p.E543Q 1 0.341463415 ENSG00000172493 chr4:87114481-87114481;G/C missense_variant False AFDN@p.S1510N 1 0.339285714 ENSG00000130396 chr6:167951904-167951904;G/A missense_variant False AFF1@p.E472K 1 0.428571429 ENSG00000172493 chr4:87108217-87108217;G/A missense_variant False AFF1@p.E438K 1 0.078947368 ENSG00000172493 chr4:87105677-87105677;G/A missense_variant False AFF1@p.E1044Q 1 0.166666667 ENSG00000172493 chr4:87131842-87131842;G/C missense_variant False AFF1@p.D476A 1 0.358974359 ENSG00000172493 chr4:87108230-87108230;A/C missense_variant False AFDN@p.Y1132F 1 0.28 ENSG00000130396 chr6:167946764-167946764;A/T missense_variant False AFDN@p.T854Yfs*4 1 0.196428571 ENSG00000130396 chr6:167917101-167917102;-/T frameshift_variant False AFF1@p.V189A 1 0.252336449 ENSG00000172493 chr4:87047122-87047122;T/C missense_variant False AFF1@p.V395D 1 0.352941176 ENSG00000172493 chr4:87091806-87091806;T/A missense_variant False AFF2@p.A248P 1 0.346938776 ENSG00000155966 chrX:148662469-148662469;G/C missense_variant False AFF2@p.D219H 1 0.253521127 ENSG00000155966 chrX:148662382-148662382;G/C missense_variant False AFF2@p.E582K 1 0.194690265 ENSG00000155966 chrX:148955789-148955789;G/A missense_variant False AFF2@p.E59K 1 0.053191489 ENSG00000155966 chrX:148652126-148652126;G/A missense_variant False AFF2@p.G482R 1 0.829787234 ENSG00000155966 chrX:148953626-148953626;G/A missense_variant False AFF2@p.I1001T 1 0.252631579 ENSG00000155966 chrX:148966878-148966878;T/C missense_variant False AFF2@p.K1092Q 1 0.94 ENSG00000155966 chrX:148973477-148973477;A/C missense_variant False AFF2@p.N797K 1 0.375 ENSG00000155966 chrX:148956436-148956436;C/A missense_variant False AFF2@p.R1268T 1 0.134615385 ENSG00000155966 chrX:148987546-148987546;G/C missense_variant False AFF2@p.R599W 1 0.054347826 ENSG00000155966 chrX:148955840-148955840;C/T missense_variant False AFF2@p.S1288R 1 0.372222222 ENSG00000155966 chrX:148991260-148991260;C/A missense_variant False AFF2@p.T86S 1 0.743589744 ENSG00000155966 chrX:148661984-148661984;C/G missense_variant False AFF3@p.A351T 1 0.423076923 ENSG00000144218 chr2:99727117-99727117;C/T missense_variant False AFF3@p.A735T 1 0.096153846 ENSG00000144218 chr2:99593458-99593458;C/T missense_variant False AFF3@p.D705H 1 0.17032967 ENSG00000144218 chr2:99593548-99593548;C/G missense_variant False AFDN@p.S808L 1 0.137254902 ENSG00000130396 chr6:167915312-167915312;C/T missense_variant False AFDN@p.R559K 1 0.395833333 ENSG00000130396 chr6:167907196-167907196;G/A missense_variant False AFF3@p.E1006K 1 0.174757282 ENSG00000144218 chr2:99565590-99565590;C/T missense_variant False AF196969.1@p.G51V 1 0.227272727 None chrX:48523923-48523923;G/T missense_variant False AFAP1L1@p.E627Q 1 0.214285714 ENSG00000157510 chr5:149329734-149329734;G/C missense_variant False AFAP1L1@p.E196Q 1 0.138888889 ENSG00000157510 chr5:149307452-149307452;G/C missense_variant False AFAP1@p.T444R 1 0.159090909 ENSG00000196526 chr4:7793762-7793762;G/C missense_variant False AFAP1@p.I176L 1 0.229166667 ENSG00000196526 chr4:7843159-7843159;T/G missense_variant False AFAP1@p.H215Y 1 0.140186916 ENSG00000196526 chr4:7838607-7838607;G/A missense_variant False AF196969.1@p.H76Y 1 0.302325581 None chrX:48523997-48523997;C/T missense_variant False AEN@p.R165W 1 0.163934426 ENSG00000181026 chr15:88626702-88626702;C/T missense_variant False AFDN@p.R464T 1 0.523809524 ENSG00000130396 chr6:167898278-167898278;G/C missense_variant False AEN@p.M300I 1 0.428571429 ENSG00000181026 chr15:88630216-88630216;G/A missense_variant False AEN@p.D258H 1 0.275862069 ENSG00000181026 chr15:88630088-88630088;G/C missense_variant False AEN@p.A98V 1 0.264705882 ENSG00000181026 chr15:88626502-88626502;C/T missense_variant False AEBP2@p.S478L 1 0.075 ENSG00000139154 chr12:19514736-19514736;C/T missense_variant False AEBP2@p.E214K 1 0.4 ENSG00000139154 chr12:19440339-19440339;G/A missense_variant False AEBP2@p.D280Hfs*22 1 0.153846154 ENSG00000139154 chr12:19462674-19462678;CAGAT/- frameshift_variant False AFAP1L1@p.K404N 1 0.086419753 ENSG00000157510 chr5:149316248-149316248;G/C missense_variant False AFAP1L1@p.L623F 1 0.333333333 ENSG00000157510 chr5:149329724-149329724;G/T missense_variant False AFAP1L2@p.E434K 1 0.252252252 ENSG00000169129 chr10:114302469-114302469;C/T missense_variant False AFAP1L2@p.E454K 1 0.205673759 ENSG00000169129 chr10:114302409-114302409;C/T missense_variant False AFAP1L2@p.E591Q 1 0.081081081 ENSG00000169129 chr10:114300462-114300462;C/G missense_variant False AFAP1L2@p.E721V 1 0.483870968 ENSG00000169129 chr10:114297365-114297365;T/A missense_variant False AFAP1L2@p.K324N 1 0.609756098 ENSG00000169129 chr10:114307905-114307905;C/G missense_variant False AFAP1L2@p.R621K 1 0.446601942 ENSG00000169129 chr10:114300289-114300289;C/T missense_variant False AFAP1L2@p.R694W 1 0.169491525 ENSG00000169129 chr10:114299293-114299293;G/A missense_variant False AFDN@p.A1025Efs*9 1 0.171428571 ENSG00000130396 chr6:167925087-167925087;C/- frameshift_variant False AFDN@p.E1578K 1 0.142857143 ENSG00000130396 chr6:167952107-167952107;G/A missense_variant False AFDN@p.E323K 1 0.257575758 ENSG00000130396 chr6:167889284-167889284;G/A missense_variant False AFDN@p.E954Q 1 0.297297297 ENSG00000130396 chr6:167918906-167918906;G/C missense_variant False AFDN@p.P932L 1 0.482758621 ENSG00000130396 chr6:167918841-167918841;C/T missense_variant False AFDN@p.Q69E 1 0.516 ENSG00000130396 chr6:167864650-167864650;C/G missense_variant False AFDN@p.R1080T 1 0.277227723 ENSG00000130396 chr6:167943961-167943961;G/C missense_variant False AFDN@p.R1171H 1 0.267857143 ENSG00000130396 chr6:167946881-167946881;G/A missense_variant False AFF3@p.D920Y 1 0.203125 ENSG00000144218 chr2:99582833-99582833;C/A missense_variant False AFF3@p.E1176D 1 0.046808511 ENSG00000144218 chr2:99554342-99554342;C/G missense_variant False AGAP3@p.G491E 1 0.428571429 ENSG00000133612 chr7:151138227-151138227;G/A missense_variant False AFP@p.K246N 1 0.384615385 ENSG00000081051 chr4:73445017-73445017;G/T missense_variant False AFTPH@p.F448S 1 0.225274725 ENSG00000119844 chr2:64552817-64552817;T/C missense_variant False AFTPH@p.E657K 1 0.066666667 ENSG00000119844 chr2:64567595-64567595;G/A missense_variant False AFTPH@p.D836N 1 0.384615385 ENSG00000119844 chr2:64581240-64581240;G/A missense_variant False AFTPH@p.D46H 1 0.434306569 ENSG00000119844 chr2:64551610-64551610;G/C missense_variant False AFTPH@p.D377H 1 0.271929825 ENSG00000119844 chr2:64552603-64552603;G/C missense_variant False AFP@p.P495L 1 0.255033557 ENSG00000081051 chr4:73452456-73452456;C/T missense_variant False AFP@p.G608V 1 0.32967033 ENSG00000081051 chr4:73455273-73455273;G/T missense_variant False AFM@p.E165Q 1 0.273684211 ENSG00000079557 chr4:73486977-73486977;G/C missense_variant False AFP@p.E165K 1 0.288888889 ENSG00000081051 chr4:73442306-73442306;G/A missense_variant False AFP@p.E119Q 1 0.149253731 ENSG00000081051 chr4:73440686-73440686;G/C missense_variant False AFP@p.D529N 1 0.177777778 ENSG00000081051 chr4:73452557-73452557;G/A missense_variant False AFMID@p.E24D 1 0.324324324 ENSG00000183077 chr17:78190978-78190978;G/C missense_variant False AFMID@p.D217Y 1 0.230769231 ENSG00000183077 chr17:78205607-78205607;G/T missense_variant False AFM@p.F12L 1 0.5 ENSG00000079557 chr4:73481811-73481811;C/A missense_variant False AFTPH@p.R736Q 1 0.270676692 ENSG00000119844 chr2:64569211-64569211;G/A missense_variant False AFTPH@p.S839F 1 0.333333333 ENSG00000119844 chr2:64581250-64581250;C/T missense_variant False AGA@p.D201N 1 0.357142857 ENSG00000038002 chr4:177437426-177437426;C/T missense_variant False AGA@p.E144K 1 0.542857143 ENSG00000038002 chr4:177438822-177438822;C/T missense_variant False AGA@p.K288T 1 0.757281553 ENSG00000038002 chr4:177433291-177433291;T/G missense_variant False AGA@p.M329V 1 0.454545455 ENSG00000038002 chr4:177431764-177431764;T/C missense_variant False AGA@p.S24C 1 0.228571429 ENSG00000038002 chr4:177442305-177442305;G/C missense_variant False AGAP1@p.D626H 1 0.653846154 ENSG00000157985 chr2:236040826-236040826;G/C missense_variant False AGAP1@p.E483Q 1 0.282051282 ENSG00000157985 chr2:235930887-235930887;G/C missense_variant False AGAP1@p.E690G 1 0.805970149 ENSG00000157985 chr2:236049236-236049236;A/G missense_variant False AGAP1@p.E759K 1 0.113636364 ENSG00000157985 chr2:236120352-236120352;G/A missense_variant False AGAP1@p.Q389H 1 0.117647059 ENSG00000157985 chr2:235908749-235908749;G/C missense_variant False AGAP2@p.R1016Q 1 0.368421053 ENSG00000135439 chr12:57727393-57727393;C/T missense_variant False AGAP2@p.V256F 1 0.222222222 ENSG00000135439 chr12:57737481-57737481;C/A missense_variant False AGAP2@p.W695C 1 0.214814815 ENSG00000135439 chr12:57731426-57731426;C/A missense_variant False AGAP3@p.E169K 1 0.801324503 ENSG00000133612 chr7:151117684-151117684;G/A missense_variant False AGAP3@p.E229D 1 0.515463918 ENSG00000133612 chr7:151118298-151118298;G/C missense_variant False AFM@p.E61K 1 0.268041237 ENSG00000079557 chr4:73484301-73484301;G/A missense_variant False AFG3L2@p.R711T 1 0.373134328 ENSG00000141385 chr18:12337384-12337384;C/G missense_variant False AFF3@p.E667Q 1 0.322580645 ENSG00000144218 chr2:99593662-99593662;C/G missense_variant False AFF4@p.D382H 1 0.185185185 ENSG00000072364 chr5:132899631-132899631;C/G missense_variant False AFF4@p.F1014L 1 0.165517241 ENSG00000072364 chr5:132886367-132886367;G/C missense_variant False AFF4@p.E972K 1 0.255172414 ENSG00000072364 chr5:132887865-132887865;C/T missense_variant False AFF4@p.E735Q 1 0.340659341 ENSG00000072364 chr5:132896427-132896427;C/G missense_variant False AFF4@p.E735K 1 0.4 ENSG00000072364 chr5:132896427-132896427;C/T missense_variant False AFF4@p.E435K 1 0.238410596 ENSG00000072364 chr5:132898316-132898316;C/T missense_variant False AFF4@p.D934G 1 0.617647059 ENSG00000072364 chr5:132887978-132887978;T/C missense_variant False AFF3@p.S463F 1 0.123595506 ENSG00000144218 chr2:99594273-99594273;G/A missense_variant False AFG3L2@p.R41Q 1 0.208333333 ENSG00000141385 chr18:12371684-12371684;C/T missense_variant False AFF3@p.S225Afs*11 1 0.31372549 ENSG00000144218 chr2:100006833-100006833;G/- frameshift_variant False AFF3@p.R653W 1 0.174311927 ENSG00000144218 chr2:99593704-99593704;G/A missense_variant False AFF3@p.M875I 1 0.396551724 ENSG00000144218 chr2:99582966-99582966;C/A missense_variant False AFF3@p.M1043I 1 0.186440678 ENSG00000144218 chr2:99560427-99560427;C/T missense_variant False AFF3@p.L789F 1 0.352941176 ENSG00000144218 chr2:99593294-99593294;C/G missense_variant False AFF3@p.G1115E 1 0.333333333 ENSG00000144218 chr2:99554526-99554526;C/T missense_variant False AFF4@p.G510D 1 0.262222222 ENSG00000072364 chr5:132897101-132897101;C/T missense_variant False AFF4@p.G57R 1 0.170212766 ENSG00000072364 chr5:132934896-132934896;C/G missense_variant False AFF4@p.H202Y 1 0.221052632 ENSG00000072364 chr5:132934461-132934461;G/A missense_variant False AFF4@p.I1135Nfs*3 1 0.266666667 ENSG00000072364 chr5:132881147-132881148;-/T frameshift_variant False AFF4@p.K926M 1 0.263157895 ENSG00000072364 chr5:132888116-132888116;T/A missense_variant False AFF4@p.P794A 1 0.140439932 ENSG00000072364 chr5:132893046-132893046;G/C missense_variant False AFF4@p.R775Q 1 0.412087912 ENSG00000072364 chr5:132893102-132893102;C/T missense_variant False AFF4@p.W220C 1 0.384615385 ENSG00000072364 chr5:132934405-132934405;C/A missense_variant False AFG1L@p.D434H 1 0.52173913 ENSG00000135537 chr6:108519793-108519793;G/C missense_variant False AFG1L@p.I83M 1 0.458015267 ENSG00000135537 chr6:108323934-108323934;C/G missense_variant False AFG1L@p.L36V 1 0.465116279 ENSG00000135537 chr6:108295185-108295185;C/G missense_variant False AFG1L@p.R429T 1 0.25 ENSG00000135537 chr6:108519779-108519779;G/C missense_variant False AFG3L2@p.D470Y 1 0.388888889 ENSG00000141385 chr18:12351324-12351324;C/A missense_variant False AFG3L2@p.E784K 1 0.476744186 ENSG00000141385 chr18:12329609-12329609;C/T missense_variant False AFG3L2@p.G287V 1 0.207317073 ENSG00000141385 chr18:12358836-12358836;C/A missense_variant False AFG3L2@p.P137S 1 0.426966292 ENSG00000141385 chr18:12367108-12367108;G/A missense_variant False AFG3L2@p.P598R 1 0.084337349 ENSG00000141385 chr18:12340388-12340388;G/C missense_variant False ADGRE2@p.E122K 1 0.52173913 ENSG00000127507 chr19:14767101-14767101;C/T missense_variant False ADGRE1@p.S146F 1 0.425531915 ENSG00000174837 chr19:6897470-6897470;C/T missense_variant False ACVR1@p.M34V 1 0.333333333 ENSG00000115170 chr2:157780568-157780568;T/C missense_variant False ADAMTS15@p.S346F 1 0.056074766 ENSG00000166106 chr11:130461568-130461568;C/T missense_variant False ADAMTS16@p.L344R 1 0.13592233 ENSG00000145536 chr5:5187792-5187792;T/G missense_variant False ADAMTS16@p.E826K 1 0.181318681 ENSG00000145536 chr5:5239878-5239878;G/A missense_variant False ADAMTS16@p.E778K 1 0.21641791 ENSG00000145536 chr5:5239734-5239734;G/A missense_variant False ADAMTS16@p.E706K 1 0.209677419 ENSG00000145536 chr5:5237061-5237061;G/A missense_variant False ADAMTS16@p.D269N 1 0.26122449 ENSG00000145536 chr5:5186093-5186093;G/A missense_variant False ADAMTS15@p.S810C 1 0.132183908 ENSG00000166106 chr11:130473397-130473397;C/G missense_variant False ADAMTS15@p.S19C 1 0.642857143 ENSG00000166106 chr11:130449029-130449029;C/G missense_variant False ADAMTS16@p.R661T 1 0.259259259 ENSG00000145536 chr5:5235145-5235145;G/C missense_variant False ADAMTS15@p.R873H 1 0.111111111 ENSG00000166106 chr11:130473586-130473586;G/A missense_variant False ADAMTS15@p.R399L 1 0.347826087 ENSG00000166106 chr11:130462192-130462192;G/T missense_variant False ADAMTS15@p.P21L 1 0.344827586 ENSG00000166106 chr11:130449035-130449035;C/T missense_variant False ADAMTS15@p.N511H 1 0.3125 ENSG00000166106 chr11:130462769-130462769;A/C missense_variant False ADAMTS15@p.I264T 1 0.210526316 ENSG00000166106 chr11:130449764-130449764;T/C missense_variant False ADAMTS15@p.G673A 1 0.090909091 ENSG00000166106 chr11:130471323-130471323;G/C missense_variant False ADAMTS16@p.N724K 1 0.129554656 ENSG00000145536 chr5:5239168-5239168;T/A missense_variant False ADAMTS16@p.S355C 1 0.089655172 ENSG00000145536 chr5:5189986-5189986;A/T missense_variant False ADAMTS7@p.R70Q 1 0.333333333 ENSG00000136378 chr15:78800439-78800439;C/T missense_variant False ADAMTS18@p.K1005N 1 0.148148148 ENSG00000140873 chr16:77293250-77293250;C/A missense_variant False ADAMTS18@p.Q91H 1 0.282786885 ENSG00000140873 chr16:77431517-77431517;C/G missense_variant False ADAMTS18@p.P1186A 1 0.266666667 ENSG00000140873 chr16:77284066-77284066;G/C missense_variant False ADAMTS18@p.P1116R 1 0.168141593 ENSG00000140873 chr16:77291321-77291321;G/C missense_variant False ADAMTS18@p.L568F 1 0.269230769 ENSG00000140873 chr16:77341710-77341710;C/G missense_variant False ADAMTS18@p.K381N 1 0.279069767 ENSG00000140873 chr16:77362178-77362178;C/G missense_variant False ADAMTS18@p.K378N 1 0.514285714 ENSG00000140873 chr16:77362187-77362187;C/A missense_variant False ADAMTS18@p.G1086R 1 0.419230769 ENSG00000140873 chr16:77291412-77291412;C/T missense_variant False ADAMTS16@p.S610R 1 0.154929577 ENSG00000145536 chr5:5232496-5232496;T/G missense_variant False ADAMTS18@p.F1176L 1 0.214285714 ENSG00000140873 chr16:77289286-77289286;G/C missense_variant False ADAMTS18@p.E692Q 1 0.152671756 ENSG00000140873 chr16:77322425-77322425;C/G missense_variant False ADAMTS18@p.D79H 1 0.29338843 ENSG00000140873 chr16:77431555-77431555;C/G missense_variant False ADAMTS17@p.S586G 1 0.178571429 ENSG00000140470 chr15:100116979-100116979;T/C missense_variant False ADAMTS17@p.D434H 1 0.2 ENSG00000140470 chr15:100155202-100155202;C/G missense_variant False ADAMTS17@p.A529T 1 0.592592593 ENSG00000140470 chr15:100132143-100132143;C/T missense_variant False ADAMTS15@p.F233L 1 0.4 ENSG00000166106 chr11:130449672-130449672;C/A missense_variant False ADAMTS14@p.S447R 1 0.366197183 ENSG00000138316 chr10:70734017-70734017;C/A missense_variant False ADAMTS14@p.R337H 1 0.149253731 ENSG00000138316 chr10:70730157-70730157;G/A missense_variant False ADAMTS12@p.L1129M 1 0.283018868 ENSG00000151388 chr5:33576641-33576641;A/T missense_variant False ADAMTS12@p.Q813H 1 0.243478261 ENSG00000151388 chr5:33614326-33614326;C/A missense_variant False ADAMTS12@p.P57T 1 0.048780488 ENSG00000151388 chr5:33881439-33881439;G/T missense_variant False ADAMTS12@p.P550L 1 0.232142857 ENSG00000151388 chr5:33641879-33641879;G/A missense_variant False ADAMTS12@p.P34L 1 0.251231527 ENSG00000151388 chr5:33891756-33891756;G/A missense_variant False ADAMTS12@p.N1015S 1 0.404255319 ENSG00000151388 chr5:33576982-33576982;T/C missense_variant False ADAMTS12@p.L384F 1 0.519230769 ENSG00000151388 chr5:33658224-33658224;G/A missense_variant False ADAMTS12@p.K121N 1 0.093023256 ENSG00000151388 chr5:33881245-33881245;C/G missense_variant False ADAMTS14@p.P1199A 1 0.352941176 ENSG00000138316 chr10:70760776-70760776;C/G missense_variant False ADAMTS12@p.I1048F 1 0.459183673 ENSG00000151388 chr5:33576884-33576884;T/A missense_variant False ADAMTS12@p.G86S 1 0.139013453 ENSG00000151388 chr5:33881352-33881352;C/T missense_variant False ADAMTS12@p.G841R 1 0.298245614 ENSG00000151388 chr5:33614244-33614244;C/T missense_variant False ADAMTS12@p.G172R 1 0.25203252 ENSG00000151388 chr5:33751524-33751524;C/T missense_variant False ADAMTS12@p.E315K 1 0.227722772 ENSG00000151388 chr5:33662013-33662013;C/T missense_variant False ADAMTS12@p.E1242K 1 0.098039216 ENSG00000151388 chr5:33576302-33576302;C/T missense_variant False ADAMTS12@p.R239Q 1 0.346774194 ENSG00000151388 chr5:33683974-33683974;C/T missense_variant False ADAMTS12@p.R604W 1 0.189473684 ENSG00000151388 chr5:33637655-33637655;G/A missense_variant False ADAMTS12@p.S1281C 1 0.084269663 ENSG00000151388 chr5:33576184-33576184;G/C missense_variant False ADAMTS12@p.S319C 1 0.31372549 ENSG00000151388 chr5:33662000-33662000;G/C missense_variant False ADAMTS12@p.S367L 1 0.4375 ENSG00000151388 chr5:33658274-33658274;G/A missense_variant False ADAMTS12@p.T1263M 1 0.337837838 ENSG00000151388 chr5:33576238-33576238;G/A missense_variant False ADAMTS12@p.V503L 1 0.241935484 ENSG00000151388 chr5:33643443-33643443;C/A missense_variant False ADAMTS13@p.E1231D 1 0.531914894 ENSG00000160323 chr9:133456193-133456193;G/C missense_variant False ADAMTS13@p.M609I 1 0.783783784 ENSG00000160323 chr9:133440384-133440384;G/A missense_variant False ADAMTS13@p.P1333S 1 0.118421053 ENSG00000160323 chr9:133458014-133458014;C/T missense_variant False ADAMTS13@p.R1000C 1 0.166666667 ENSG00000160323 chr9:133449919-133449919;C/T missense_variant False ADAMTS13@p.R629T 1 0.708333333 ENSG00000160323 chr9:133440443-133440443;G/C missense_variant False ADAMTS13@p.S1233C 1 0.296296296 ENSG00000160323 chr9:133456198-133456198;C/G missense_variant False ADAMTS13@p.T577N 1 0.23255814 ENSG00000160323 chr9:133439390-133439390;C/A missense_variant False ADAMTS14@p.G562R 1 0.44 ENSG00000138316 chr10:70738926-70738926;G/C missense_variant False ADAMTS14@p.M882R 1 0.28 ENSG00000138316 chr10:70752143-70752143;T/G missense_variant False ADAMTS14@p.P1127L 1 0.181818182 ENSG00000138316 chr10:70760561-70760561;C/T missense_variant False ADAMTS18@p.Q982E 1 0.368421053 ENSG00000140873 chr16:77294985-77294985;G/C missense_variant False ADAMTS18@p.R1170Q 1 0.227467811 ENSG00000140873 chr16:77289305-77289305;C/T missense_variant False ADAMTS18@p.R603Q 1 0.130769231 ENSG00000140873 chr16:77335807-77335807;C/T missense_variant False ADAMTS3@p.S391L 1 0.314814815 ENSG00000156140 chr4:72319894-72319894;G/A missense_variant False ADAMTS4@p.V653F 1 0.118110236 ENSG00000158859 chr1:161192195-161192195;C/A missense_variant False ADAMTS4@p.R795C 1 0.323529412 ENSG00000158859 chr1:161191269-161191269;G/A missense_variant False ADAMTS4@p.R343P 1 0.229166667 ENSG00000158859 chr1:161196233-161196233;C/G missense_variant False ADAMTS4@p.G189S 1 0.359375 ENSG00000158859 chr1:161198063-161198063;C/T missense_variant False ADAMTS4@p.E584Q 1 0.080645161 ENSG00000158859 chr1:161193374-161193374;C/G missense_variant False ADAMTS4@p.D491N 1 0.448275862 ENSG00000158859 chr1:161194012-161194012;C/T missense_variant False ADAMTS3@p.R775W 1 0.356643357 ENSG00000156140 chr4:72304018-72304018;G/A missense_variant False ADAMTS3@p.E275Q 1 0.142857143 ENSG00000156140 chr4:72339532-72339532;C/G missense_variant False ADAMTS3@p.Q189L 1 0.368686869 ENSG00000156140 chr4:72414910-72414910;T/A missense_variant False ADAMTS3@p.K202N 1 0.090909091 ENSG00000156140 chr4:72414870-72414870;C/G missense_variant False ADAMTS3@p.H751N 1 0.145833333 ENSG00000156140 chr4:72305996-72305996;G/T missense_variant False ADAMTS3@p.H402R 1 0.425531915 ENSG00000156140 chr4:72319861-72319861;T/C missense_variant False ADAMTS3@p.G781C 1 0.149425287 ENSG00000156140 chr4:72304000-72304000;C/A missense_variant False ADAMTS3@p.G323E 1 0.24 ENSG00000156140 chr4:72320848-72320848;C/T missense_variant False ADAMTS5@p.A921G 1 0.231884058 ENSG00000154736 chr21:26924084-26924084;G/C missense_variant False ADAMTS5@p.A921V 1 0.120879121 ENSG00000154736 chr21:26924084-26924084;G/A missense_variant False ADAMTS5@p.E631K 1 0.132075472 ENSG00000154736 chr21:26932162-26932162;C/T missense_variant False ADAMTS5@p.E651K 1 0.092783505 ENSG00000154736 chr21:26932102-26932102;C/T missense_variant False ADAMTS5@p.E689K 1 0.281045752 ENSG00000154736 chr21:26930046-26930046;C/T missense_variant False ADAMTS5@p.P839H 1 0.33974359 ENSG00000154736 chr21:26924330-26924330;G/T missense_variant False ADAMTS5@p.S916P 1 0.434782609 ENSG00000154736 chr21:26924100-26924100;A/G missense_variant False ADAMTS5@p.T120M 1 0.142857143 ENSG00000154736 chr21:26966033-26966033;G/A missense_variant False ADAMTS6@p.D704H 1 0.130434783 ENSG00000049192 chr5:65225005-65225005;C/G missense_variant False ADAMTS6@p.E934K 1 0.076923077 ENSG00000049192 chr5:65188126-65188126;C/T missense_variant False ADAMTS6@p.I271L 1 0.542857143 ENSG00000049192 chr5:65452739-65452739;T/G missense_variant False ADAMTS6@p.S205C 1 0.454545455 ENSG00000049192 chr5:65460187-65460187;G/C missense_variant False ADAMTS6@p.V1086A 1 0.344827586 ENSG00000049192 chr5:65151933-65151933;A/G missense_variant False ADAMTS6@p.Y642C 1 0.185185185 ENSG00000049192 chr5:65242112-65242112;T/C missense_variant False ADAMTS7@p.F106Lfs*33 1 0.625 ENSG00000136378 chr15:78800333-78800334;-/C frameshift_variant False ADAMTS7@p.F584L 1 0.108695652 ENSG00000136378 chr15:78774748-78774748;G/C missense_variant False ADAMTS7@p.Q871H 1 0.258064516 ENSG00000136378 chr15:78768165-78768165;C/A missense_variant False ADAMTS3@p.E470Q 1 0.119402985 ENSG00000156140 chr4:72318649-72318649;C/G missense_variant False ADAMTS3@p.E253K 1 0.461538462 ENSG00000156140 chr4:72339598-72339598;C/T missense_variant False ADAMTS18@p.R664H 1 0.345238095 ENSG00000140873 chr16:77325907-77325907;C/T missense_variant False ADAMTS1@p.E272K 1 0.393258427 ENSG00000154734 chr21:26842602-26842602;C/T missense_variant False ADAMTS20@p.H1054Y 1 0.605504587 ENSG00000173157 chr12:43431433-43431433;G/A missense_variant False ADAMTS20@p.G319V 1 0.185185185 ENSG00000173157 chr12:43492625-43492625;C/A missense_variant False ADAMTS20@p.G1095E 1 0.72 ENSG00000173157 chr12:43430449-43430449;C/T missense_variant False ADAMTS20@p.D224Y 1 0.442622951 ENSG00000173157 chr12:43502349-43502349;C/A missense_variant False ADAMTS20@p.C1192S 1 0.5 ENSG00000173157 chr12:43428714-43428714;C/G missense_variant False ADAMTS1@p.S287P 1 0.2 ENSG00000154734 chr21:26842557-26842557;A/G missense_variant False ADAMTS19@p.L779I 1 0.123809524 ENSG00000145808 chr5:129658647-129658647;C/A missense_variant False ADAMTS3@p.D791N 1 0.166666667 ENSG00000156140 chr4:72303970-72303970;C/T missense_variant False ADAMTS19@p.E1151K 1 0.549450549 ENSG00000145808 chr5:129735070-129735070;G/A missense_variant False ADAMTS19@p.D451Y 1 0.4375 ENSG00000145808 chr5:129551886-129551886;G/T missense_variant False ADAMTS19@p.C754S 1 0.170454545 ENSG00000145808 chr5:129654390-129654390;G/C missense_variant False ADAMTS18@p.W397L 1 0.063829787 ENSG00000140873 chr16:77362131-77362131;C/A missense_variant False ADAMTS18@p.V537L 1 0.384615385 ENSG00000140873 chr16:77353738-77353738;C/A missense_variant False ADAMTS18@p.S438L 1 0.147058824 ENSG00000140873 chr16:77359327-77359327;G/A missense_variant False ADAMTS20@p.H428R 1 0.15037594 ENSG00000173157 chr12:43466736-43466736;T/C missense_variant False ADAMTS20@p.Q1635E 1 0.324324324 ENSG00000173157 chr12:43377457-43377457;G/C missense_variant False ADAMTS20@p.R1000C 1 0.193548387 ENSG00000173157 chr12:43432402-43432402;G/A missense_variant False ADAMTS20@p.R1122H 1 0.368421053 ENSG00000173157 chr12:43430368-43430368;C/T missense_variant False ADAMTS20@p.R1501K 1 0.209302326 ENSG00000173157 chr12:43383928-43383928;C/T missense_variant False ADAMTS20@p.S1880L 1 0.375 ENSG00000173157 chr12:43356488-43356488;G/A missense_variant False ADAMTS20@p.S718C 1 0.372093023 ENSG00000173157 chr12:43446639-43446639;G/C missense_variant False ADAMTS20@p.S718F 1 0.409090909 ENSG00000173157 chr12:43446639-43446639;G/A missense_variant False ADAMTS20@p.V227L 1 0.467889908 ENSG00000173157 chr12:43502340-43502340;C/A missense_variant False ADAMTS2@p.N847K 1 0.12295082 ENSG00000087116 chr5:179128035-179128035;G/T missense_variant False ADAMTS2@p.P1186L 1 0.573170732 ENSG00000087116 chr5:179113946-179113946;G/A missense_variant False ADAMTS2@p.S1077P 1 0.277777778 ENSG00000087116 chr5:179114274-179114274;A/G missense_variant False ADAMTS2@p.S1147Y 1 0.074468085 ENSG00000087116 chr5:179114063-179114063;G/T missense_variant False ADAMTS2@p.S253L 1 0.375 ENSG00000087116 chr5:179207646-179207646;G/A missense_variant False ADAMTS2@p.T951N 1 0.146964856 ENSG00000087116 chr5:179125079-179125079;G/T missense_variant False ADAMTS3@p.A63V 1 0.239583333 ENSG00000156140 chr4:72548794-72548794;G/A missense_variant False ADAMTS3@p.C563S 1 0.318181818 ENSG00000156140 chr4:72313734-72313734;C/G missense_variant False ADAMTS12@p.E1193Q 1 0.109756098 ENSG00000151388 chr5:33576449-33576449;C/G missense_variant False ADAMTS12@p.D925N 1 0.272727273 ENSG00000151388 chr5:33588691-33588691;C/T missense_variant False ADAMTS10@p.R814L 1 0.25 ENSG00000142303 chr19:8586433-8586433;C/A missense_variant False ADAM12@p.G581R 1 0.202702703 ENSG00000148848 chr10:126049438-126049438;C/T missense_variant False ADAM15@p.G515R 1 0.396226415 ENSG00000143537 chr1:155057977-155057977;G/A missense_variant False ADAM15@p.E37Q 1 0.25 ENSG00000143537 chr1:155052700-155052700;G/C missense_variant False ADAM15@p.E154Q 1 0.344262295 ENSG00000143537 chr1:155054354-155054354;G/C missense_variant False ADAM12@p.R225Q 1 0.247706422 ENSG00000148848 chr10:126109779-126109779;C/T missense_variant False ADAM12@p.Q796H 1 0.27972028 ENSG00000148848 chr10:126036296-126036296;C/G missense_variant False ADAM12@p.P812H 1 0.597402597 ENSG00000148848 chr10:126036249-126036249;G/T missense_variant False ADAM11@p.R504Q 1 0.431372549 ENSG00000073670 chr17:44776152-44776152;G/A missense_variant False ADAM10@p.H101D 1 0.246376812 ENSG00000137845 chr15:58682220-58682220;G/C missense_variant False ADAM11@p.G628S 1 0.327683616 ENSG00000073670 chr17:44777582-44777582;G/A missense_variant False ADAM11@p.E497K 1 0.302083333 ENSG00000073670 chr17:44776130-44776130;G/A missense_variant False ADAM10@p.S585F 1 0.47706422 ENSG00000137845 chr15:58611049-58611049;G/A missense_variant False ADAM10@p.S423F 1 0.237113402 ENSG00000137845 chr15:58627792-58627792;G/A missense_variant False ADAM10@p.R213H 1 0.173076923 ENSG00000137845 chr15:58646152-58646152;C/T missense_variant False ADAM10@p.Q223E 1 0.135135135 ENSG00000137845 chr15:58646123-58646123;G/C missense_variant False ADAM15@p.R596Q 1 0.184782609 ENSG00000143537 chr1:155058311-155058311;G/A missense_variant False ADAM15@p.S740F 1 0.131147541 ENSG00000143537 chr1:155060774-155060774;C/T missense_variant False ADAM17@p.E528K 1 0.316326531 ENSG00000151694 chr2:9502239-9502239;C/T missense_variant False ADAM17@p.E562K 1 0.163793103 ENSG00000151694 chr2:9497213-9497213;C/T missense_variant False ADAM17@p.E778Q 1 0.377358491 ENSG00000151694 chr2:9490320-9490320;C/G missense_variant False ADAM17@p.H405Y 1 0.138686131 ENSG00000151694 chr2:9510110-9510110;G/A missense_variant False ADAM17@p.L420V 1 0.273584906 ENSG00000151694 chr2:9510065-9510065;G/C missense_variant False ADAM17@p.P558A 1 0.194174757 ENSG00000151694 chr2:9497225-9497225;G/C missense_variant False ADAM17@p.S40L 1 0.340425532 ENSG00000151694 chr2:9543264-9543264;G/A missense_variant False ADAM17@p.S73L 1 0.228571429 ENSG00000151694 chr2:9543165-9543165;G/A missense_variant False ADAM18@p.E193Q 1 0.085020243 ENSG00000168619 chr8:39629428-39629428;G/C missense_variant False ADAM18@p.H280Y 1 0.450980392 ENSG00000168619 chr8:39638475-39638475;C/T missense_variant False ADAM18@p.I316T 1 0.262975779 ENSG00000168619 chr8:39645375-39645375;T/C missense_variant False ADAM19@p.A815V 1 0.268292683 ENSG00000135074 chr5:157488371-157488371;G/A missense_variant False ADAM19@p.D154H 1 0.231707317 ENSG00000135074 chr5:157519979-157519979;C/G missense_variant False ADAM19@p.D219E 1 0.526041667 ENSG00000135074 chr5:157518832-157518832;A/T missense_variant False ADAM19@p.Q500H 1 0.347826087 ENSG00000135074 chr5:157496988-157496988;C/G missense_variant False ADAM10@p.Q198E 1 0.114285714 ENSG00000137845 chr15:58646198-58646198;G/C missense_variant False ADAM10@p.E573K 1 0.191011236 ENSG00000137845 chr15:58611086-58611086;C/T missense_variant False ADAM20@p.Q528E 1 0.269230769 ENSG00000134007 chr14:70523176-70523176;G/C missense_variant False ACVR2B@p.V336L 1 0.175438596 ENSG00000114739 chr3:38481397-38481397;G/C missense_variant False ACY3@p.P216S 1 0.5 ENSG00000132744 chr11:67644858-67644858;G/A missense_variant False ACY3@p.F77C 1 0.25 ENSG00000132744 chr11:67646814-67646814;A/C missense_variant False ACY3@p.A294T 1 0.258278146 ENSG00000132744 chr11:67642804-67642804;C/T missense_variant False ACVRL1@p.Y421C 1 0.496598639 ENSG00000139567 chr12:51919000-51919000;A/G missense_variant False ACVRL1@p.V126M 1 0.7 ENSG00000139567 chr12:51913621-51913621;G/A missense_variant False ACVRL1@p.E104Q 1 0.458333333 ENSG00000139567 chr12:51913347-51913347;G/C missense_variant False ACVR2B@p.S62F 1 0.175 ENSG00000114739 chr3:38477419-38477419;C/T missense_variant False ADAM10@p.E482K 1 0.073170732 ENSG00000137845 chr15:58621538-58621538;C/T missense_variant False ACVR2A@p.F32V 1 0.642857143 ENSG00000121989 chr2:147896339-147896339;T/G missense_variant False ACVR1C@p.P67A 1 0.215753425 ENSG00000123612 chr2:157587292-157587292;G/C missense_variant False ACVR1C@p.G408R 1 0.158333333 ENSG00000123612 chr2:157541093-157541093;C/G missense_variant False ACVR1B@p.L356V 1 0.180722892 ENSG00000135503 chr12:51985278-51985278;C/G missense_variant True ACVR1B@p.E388K 1 0.223880597 ENSG00000135503 chr12:51986843-51986843;G/A missense_variant True ACVR1@p.R380H 1 0.0625 ENSG00000115170 chr2:157761005-157761005;C/T missense_variant False ACY3@p.P55R 1 0.243243243 ENSG00000132744 chr11:67646880-67646880;G/C missense_variant False ACY3@p.P82T 1 0.545454545 ENSG00000132744 chr11:67645880-67645880;G/T missense_variant False ACY3@p.Q42H 1 0.2 ENSG00000132744 chr11:67646918-67646918;C/G missense_variant False ADA2@p.D226H 1 0.178571429 ENSG00000093072 chr22:17203640-17203640;C/G missense_variant False ADA2@p.N53I 1 0.121212121 ENSG00000093072 chr22:17209520-17209520;T/A missense_variant False ADA@p.E217K 1 0.144736842 ENSG00000196839 chr20:44623036-44623036;C/T missense_variant False ADA@p.K340N 1 0.254901961 ENSG00000196839 chr20:44620357-44620357;C/G missense_variant False ADA@p.V112L 1 0.202702703 ENSG00000196839 chr20:44626484-44626484;C/A missense_variant False ADAD1@p.E531K 1 0.29787234 ENSG00000164113 chr4:122421364-122421364;G/A missense_variant False ADAD1@p.I565T 1 0.494845361 ENSG00000164113 chr4:122429702-122429702;T/C missense_variant False ADAD1@p.S47T 1 0.233333333 ENSG00000164113 chr4:122380208-122380208;T/A missense_variant False ADAD2@p.L518_K520delinsQ 1 0.32173913 ENSG00000140955 chr16:84196673-84196678;TCTGCA/- inframe_deletion False ADAL@p.E81K 1 0.580645161 ENSG00000168803 chr15:43336672-43336672;G/A missense_variant False ADAL@p.K59N 1 0.358778626 ENSG00000168803 chr15:43335809-43335809;G/T missense_variant False ADAM10@p.D527N 1 0.294117647 ENSG00000137845 chr15:58611924-58611924;C/T missense_variant False ADAM10@p.D98N 1 0.175438596 ENSG00000137845 chr15:58682229-58682229;C/T missense_variant False ADAM10@p.E141K 1 0.461538462 ENSG00000137845 chr15:58679187-58679187;C/T missense_variant False ADAM20@p.K307E 1 0.211538462 ENSG00000134007 chr14:70523839-70523839;T/C missense_variant False ADAM21@p.F22I 1 0.141414141 ENSG00000139985 chr14:70457563-70457563;T/A missense_variant False ADAMTS10@p.Q786H 1 0.12987013 ENSG00000142303 chr19:8586603-8586603;C/G missense_variant False ADAM32@p.A621V 1 0.148471616 ENSG00000197140 chr8:39246126-39246126;C/T missense_variant False ADAM33@p.R168W 1 0.164772727 ENSG00000149451 chr20:3674602-3674602;G/A missense_variant False ADAM32@p.S724L 1 0.2 ENSG00000197140 chr8:39270884-39270884;C/T missense_variant False ADAM32@p.S417R 1 0.481481481 ENSG00000197140 chr8:39221627-39221627;C/A missense_variant False ADAM32@p.Q94E 1 0.220338983 ENSG00000197140 chr8:39149794-39149794;C/G missense_variant False ADAM32@p.P646T 1 0.727272727 ENSG00000197140 chr8:39254447-39254447;C/A missense_variant False ADAM32@p.E131K 1 0.096153846 ENSG00000197140 chr8:39151414-39151414;G/A missense_variant False ADAM30@p.S762Y 1 0.268907563 ENSG00000134249 chr1:119894052-119894052;G/T missense_variant False ADAM30@p.D243N 1 0.25 ENSG00000134249 chr1:119895610-119895610;C/T missense_variant False ADAM30@p.R245C 1 0.526315789 ENSG00000134249 chr1:119895604-119895604;G/A missense_variant False ADAM30@p.R134Q 1 0.548387097 ENSG00000134249 chr1:119895936-119895936;C/T missense_variant False ADAM30@p.L443F 1 0.240506329 ENSG00000134249 chr1:119895010-119895010;G/A missense_variant False ADAM30@p.L305I 1 0.26984127 ENSG00000134249 chr1:119895424-119895424;G/T missense_variant False ADAM30@p.G767E 1 0.208835341 ENSG00000134249 chr1:119894037-119894037;C/T missense_variant False ADAM30@p.E47Q 1 0.342105263 ENSG00000134249 chr1:119896198-119896198;C/G missense_variant False ADAM7@p.I63L 1 0.384615385 ENSG00000069206 chr8:24447216-24447216;A/T missense_variant False ADAM7@p.N398S 1 0.317073171 ENSG00000069206 chr8:24489260-24489260;A/G missense_variant False ADAM8@p.E335K 1 0.107843137 ENSG00000151651 chr10:133271909-133271909;C/T missense_variant False ADAM8@p.G819V 1 0.2 ENSG00000151651 chr10:133263175-133263175;C/A missense_variant False ADAM8@p.S499F 1 0.136363636 ENSG00000151651 chr10:133270949-133270949;G/A missense_variant False ADAM9@p.H157Y 1 0.214285714 ENSG00000168615 chr8:39017277-39017277;C/T missense_variant False ADAM9@p.I768V 1 0.038461538 ENSG00000168615 chr8:39101866-39101866;A/G missense_variant False ADAM9@p.K546R 1 0.470588235 ENSG00000168615 chr8:39071343-39071343;A/G missense_variant False ADAM9@p.Q647E 1 0.125 ENSG00000168615 chr8:39082698-39082698;C/G missense_variant False ADAM9@p.Q743E 1 0.069306931 ENSG00000168615 chr8:39091275-39091275;C/G missense_variant False ADAM9@p.S379F 1 0.47826087 ENSG00000168615 chr8:39041951-39041951;C/T missense_variant False ADAMDEC1@p.D288H 1 0.411764706 ENSG00000134028 chr8:24398973-24398973;G/C missense_variant False ADAMTS10@p.A832T 1 0.681818182 ENSG00000142303 chr19:8586380-8586380;C/T missense_variant False ADAMTS10@p.E242Q 1 0.418803419 ENSG00000142303 chr19:8601014-8601014;C/G missense_variant False ADAMTS10@p.E676K 1 0.538071066 ENSG00000142303 chr19:8589460-8589460;C/T missense_variant False ADAMTS10@p.F43L 1 0.454545455 ENSG00000142303 chr19:8605318-8605318;G/T missense_variant False ADAMTS10@p.I345T 1 0.298969072 ENSG00000142303 chr19:8596993-8596993;A/G missense_variant False ADAM30@p.D608Y 1 0.148648649 ENSG00000134249 chr1:119894515-119894515;C/A missense_variant False ADAM30@p.A190T 1 0.664285714 ENSG00000134249 chr1:119895769-119895769;C/T missense_variant False ADAM21@p.F67V 1 0.189189189 ENSG00000139985 chr14:70457698-70457698;T/G missense_variant False ADAM22@p.L33* 1 0.179775281 ENSG00000008277 chr7:87935038-87935050;TGATGGAGCTAGA/- frameshift_variant False ADAM23@p.D710H 1 0.614457831 ENSG00000114948 chr2:206594786-206594786;G/C missense_variant False ADAM23@p.D704V 1 0.216666667 ENSG00000114948 chr2:206594769-206594769;A/T missense_variant False ADAM23@p.A538D 1 0.106918239 ENSG00000114948 chr2:206571773-206571773;C/A missense_variant False ADAM22@p.R191T 1 0.0625 ENSG00000008277 chr7:88116779-88116779;G/C missense_variant False ADAM22@p.Q660H 1 0.093023256 ENSG00000008277 chr7:88163084-88163084;A/C missense_variant False ADAM22@p.N833Y 1 0.166666667 ENSG00000008277 chr7:88181593-88181593;A/T missense_variant False ADAM22@p.I739L 1 0.3 ENSG00000008277 chr7:88168160-88168160;A/T missense_variant False ADAM2@p.V259F 1 0.166666667 ENSG00000104755 chr8:39788119-39788119;C/A missense_variant False ADAM22@p.H67Y 1 0.153846154 ENSG00000008277 chr7:87935139-87935139;C/T missense_variant False ADAM22@p.E242Q 1 0.117647059 ENSG00000008277 chr7:88128647-88128647;G/C missense_variant False ADAM21@p.S84C 1 0.095238095 ENSG00000139985 chr14:70457750-70457750;C/G missense_variant False ADAM21@p.S602F 1 0.148648649 ENSG00000139985 chr14:70459304-70459304;C/T missense_variant False ADAM21@p.M245K 1 0.128440367 ENSG00000139985 chr14:70458233-70458233;T/A missense_variant False ADAM21@p.H292L 1 0.1 ENSG00000139985 chr14:70458374-70458374;A/T missense_variant False ADAM23@p.Q594E 1 0.171428571 ENSG00000114948 chr2:206587367-206587367;C/G missense_variant False ADAM28@p.R578W 1 0.163934426 ENSG00000042980 chr8:24341659-24341659;C/T missense_variant False ADAM29@p.F509Lfs*16 1 0.295081967 ENSG00000168594 chr4:174977048-174977048;T/- frameshift_variant False ADAM29@p.G121W 1 0.074074074 ENSG00000168594 chr4:174975886-174975886;G/T missense_variant False ADAM29@p.P49S 1 0.507692308 ENSG00000168594 chr4:174975670-174975670;C/T missense_variant False ADAM29@p.Q185E 1 0.465116279 ENSG00000168594 chr4:174976078-174976078;C/G missense_variant False ADAM29@p.Q21K 1 0.203539823 ENSG00000168594 chr4:174975586-174975586;C/A missense_variant False ADAM29@p.S115F 1 0.225 ENSG00000168594 chr4:174975869-174975869;C/T missense_variant False ADAM29@p.S160L 1 0.116883117 ENSG00000168594 chr4:174976004-174976004;C/T missense_variant False ADAM29@p.S547L 1 0.239726027 ENSG00000168594 chr4:174977165-174977165;C/T missense_variant False ADAM29@p.S802F 1 0.217213115 ENSG00000168594 chr4:174977930-174977930;C/T missense_variant False ADAM29@p.T818M 1 0.661016949 ENSG00000168594 chr4:174977978-174977978;C/T missense_variant False ADAM29@p.V397A 1 0.391304348 ENSG00000168594 chr4:174976715-174976715;T/C missense_variant False ADAM2@p.D724N 1 0.375 ENSG00000104755 chr8:39746476-39746476;C/T missense_variant False ADAM2@p.Q604E 1 0.280821918 ENSG00000104755 chr8:39749732-39749732;G/C missense_variant False ADAM2@p.S124T 1 0.088607595 ENSG00000104755 chr8:39821144-39821144;C/G missense_variant False ADAM2@p.S594F 1 0.727272727 ENSG00000104755 chr8:39755744-39755744;G/A missense_variant False ADAMTS7@p.R191T 1 0.209459459 ENSG00000136378 chr15:78797998-78797998;C/G missense_variant False ADAMTS8@p.E483K 1 0.71641791 ENSG00000134917 chr11:130414650-130414650;C/T missense_variant False ADGRE1@p.Q778H 1 0.178082192 ENSG00000174837 chr19:6935031-6935031;G/C missense_variant False ADCY8@p.D600Y 1 0.161290323 ENSG00000155897 chr8:130903885-130903885;C/A missense_variant False ADCY8@p.Q730E 1 0.555555556 ENSG00000155897 chr8:130867868-130867868;G/C missense_variant False ADCY8@p.P768R 1 0.254237288 ENSG00000155897 chr8:130849711-130849711;G/C missense_variant False ADCY8@p.I493S 1 0.337078652 ENSG00000155897 chr8:130937076-130937076;A/C missense_variant False ADCY8@p.H454Y 1 0.756756757 ENSG00000155897 chr8:130937194-130937194;G/A missense_variant False ADCY8@p.G335R 1 0.111111111 ENSG00000155897 chr8:130990500-130990500;C/G missense_variant False ADCY8@p.E935Q 1 0.288659794 ENSG00000155897 chr8:130814179-130814179;C/G missense_variant False ADCY8@p.D600H 1 0.122580645 ENSG00000155897 chr8:130903885-130903885;C/G missense_variant False ADCY8@p.R347H 1 0.694581281 ENSG00000155897 chr8:130990463-130990463;C/T missense_variant False ADCY8@p.A878T 1 0.110599078 ENSG00000155897 chr8:130836320-130836320;C/T missense_variant False ADCY8@p.A784S 1 0.215384615 ENSG00000155897 chr8:130849664-130849664;C/A missense_variant False ADCY7@p.M972I 1 0.688235294 ENSG00000121281 chr16:50314351-50314351;G/C missense_variant False ADCY7@p.D916N 1 0.540540541 ENSG00000121281 chr16:50313031-50313031;G/A missense_variant False ADCY6@p.T1036I 1 0.287128713 ENSG00000174233 chr12:48770915-48770915;G/A missense_variant False ADCY6@p.R733C 1 0.093023256 ENSG00000174233 chr12:48774488-48774488;G/A missense_variant False ADCY8@p.R150L 1 0.080645161 ENSG00000155897 chr8:131039885-131039885;C/A missense_variant False ADCY8@p.S662F 1 0.221590909 ENSG00000155897 chr8:130884688-130884688;G/A missense_variant False ADAMTS8@p.F798Y 1 0.759493671 ENSG00000134917 chr11:130405835-130405835;A/T missense_variant False ADCYAP1R1@p.D102N 1 0.19047619 ENSG00000078549 chr7:31081730-31081730;G/A missense_variant False ADD1@p.L202V 1 0.238095238 ENSG00000087274 chr4:2894594-2894594;C/G missense_variant False ADCYAP1R1@p.V329F 1 0.148148148 ENSG00000078549 chr7:31092674-31092674;G/T missense_variant False ADCYAP1R1@p.S50Pfs*57 1 0.285714286 ENSG00000078549 chr7:31064926-31064926;T/- frameshift_variant False ADCYAP1R1@p.R185C 1 0.113475177 ENSG00000078549 chr7:31085326-31085326;C/T missense_variant False ADCYAP1R1@p.P433S 1 0.118644068 ENSG00000078549 chr7:31106574-31106574;C/T missense_variant False ADCYAP1R1@p.M111I 1 0.25 ENSG00000078549 chr7:31084145-31084145;G/A missense_variant False ADCY9@p.P650T 1 0.13559322 ENSG00000162104 chr16:3993447-3993447;G/T missense_variant False ADCY8@p.S692L 1 0.387096774 ENSG00000155897 chr8:130884598-130884598;G/A missense_variant False ADCY9@p.L1216F 1 0.077380952 ENSG00000162104 chr16:3966189-3966189;C/G missense_variant False ADCY9@p.G1057A 1 0.829596413 ENSG00000162104 chr16:3966667-3966667;C/G missense_variant False ADCY9@p.E889K 1 0.265822785 ENSG00000162104 chr16:3979130-3979130;C/T missense_variant False ADCY9@p.E758K 1 0.663716814 ENSG00000162104 chr16:3989032-3989032;C/T missense_variant False ADCY9@p.E1140K 1 0.3 ENSG00000162104 chr16:3966419-3966419;C/T missense_variant False ADCY9@p.D740Y 1 0.551724138 ENSG00000162104 chr16:3989086-3989086;C/A missense_variant False ADCY6@p.R116Q 1 0.333333333 ENSG00000174233 chr12:48783088-48783088;C/T missense_variant False ADCY6@p.Q973E 1 0.133333333 ENSG00000174233 chr12:48771844-48771844;G/C missense_variant False ADCY6@p.Q149H 1 0.342105263 ENSG00000174233 chr12:48782988-48782988;C/G missense_variant False ADCY3@p.E60V 1 0.125 ENSG00000138031 chr2:24918809-24918809;T/A missense_variant False ADCY4@p.G377E 1 0.268656716 ENSG00000129467 chr14:24329947-24329947;C/T missense_variant False ADCY4@p.E242D 1 0.264 ENSG00000129467 chr14:24331300-24331300;C/G missense_variant False ADCY4@p.E1030K 1 0.318181818 ENSG00000129467 chr14:24318562-24318562;C/T missense_variant False ADCY3@p.S13L 1 0.16 ENSG00000138031 chr2:24918950-24918950;G/A missense_variant False ADCY3@p.Q427H 1 0.096774194 ENSG00000138031 chr2:24839947-24839947;C/G missense_variant False ADCY3@p.F868C 1 0.337349398 ENSG00000138031 chr2:24824511-24824511;A/C missense_variant False ADCY3@p.D1018N 1 0.236065574 ENSG00000138031 chr2:24821592-24821592;C/T missense_variant False ADCY6@p.N967S 1 0.387323944 ENSG00000174233 chr12:48771861-48771861;T/C missense_variant False ADCY2@p.V297I 1 0.360824742 ENSG00000078295 chr5:7695771-7695771;G/A missense_variant False ADCY2@p.V188F 1 0.4 ENSG00000078295 chr5:7520891-7520891;G/T missense_variant False ADCY2@p.S626F 1 0.168582375 ENSG00000078295 chr5:7743673-7743673;C/T missense_variant False ADCY2@p.S138L 1 0.378787879 ENSG00000078295 chr5:7520742-7520742;C/T missense_variant False ADCY2@p.S132F 1 0.108695652 ENSG00000078295 chr5:7414757-7414757;C/T missense_variant False ADCY2@p.R853S 1 0.20610687 ENSG00000078295 chr5:7789729-7789729;C/A missense_variant False ADCY4@p.K644Rfs*19 1 0.3 ENSG00000129467 chr14:24324179-24324179;G/- frameshift_variant False ADCY4@p.S390L 1 0.152777778 ENSG00000129467 chr14:24329908-24329908;G/A missense_variant False ADCY4@p.S731Y 1 0.258064516 ENSG00000129467 chr14:24323054-24323054;G/T missense_variant False ADCY5@p.D1015H 1 0.321428571 ENSG00000173175 chr3:123296104-123296104;C/G missense_variant False ADCY5@p.D617E 1 0.363636364 ENSG00000173175 chr3:123327714-123327714;G/C missense_variant False ADCY5@p.E401Q 1 0.128205128 ENSG00000173175 chr3:123352515-123352515;C/G missense_variant False ADCY5@p.F924C 1 0.5 ENSG00000173175 chr3:123300249-123300249;A/C missense_variant False ADCY5@p.G1126S 1 0.72972973 ENSG00000173175 chr3:123289906-123289906;C/T missense_variant False ADCY5@p.H260D 1 0.459459459 ENSG00000173175 chr3:123447768-123447768;G/C missense_variant False ADCY5@p.H880Y 1 0.289473684 ENSG00000173175 chr3:123303141-123303141;G/A missense_variant False ADCY5@p.I1148M 1 0.470588235 ENSG00000173175 chr3:123289838-123289838;G/C missense_variant False ADCY5@p.R1192Q 1 0.137254902 ENSG00000173175 chr3:123286767-123286767;C/T missense_variant False ADCY5@p.R430P 1 0.08707124 ENSG00000173175 chr3:123347899-123347899;C/G missense_variant False ADCY6@p.A172T 1 0.072580645 ENSG00000174233 chr12:48782921-48782921;C/T missense_variant False ADCY6@p.E105K 1 0.204724409 ENSG00000174233 chr12:48783122-48783122;C/T missense_variant False ADCY6@p.E21K 1 0.12244898 ENSG00000174233 chr12:48783374-48783374;C/T missense_variant False ADCY6@p.L952V 1 0.163265306 ENSG00000174233 chr12:48771907-48771907;G/C missense_variant False ADD1@p.M51I 1 0.147058824 ENSG00000087274 chr4:2876068-2876068;G/A missense_variant False ADD1@p.P687L 1 0.574468085 ENSG00000087274 chr4:2928369-2928369;C/T missense_variant False ADD1@p.R723C 1 0.618181818 ENSG00000087274 chr4:2928476-2928476;C/T missense_variant False ADGRB2@p.V692M 1 0.171428571 ENSG00000121753 chr1:31740019-31740019;C/T missense_variant False ADGRB3@p.E829K 1 0.25443787 ENSG00000135298 chr6:69233294-69233294;G/A missense_variant False ADGRB3@p.E1502Q 1 0.341463415 ENSG00000135298 chr6:69388826-69388826;G/C missense_variant False ADGRB3@p.E1491D 1 0.138888889 ENSG00000135298 chr6:69388795-69388795;G/T missense_variant False ADGRB3@p.D281N 1 0.255319149 ENSG00000135298 chr6:68930642-68930642;G/A missense_variant False ADGRB3@p.C229F 1 0.245614035 ENSG00000135298 chr6:68639361-68639361;G/T missense_variant False ADGRB3@p.A395V 1 0.470588235 ENSG00000135298 chr6:68943983-68943983;C/T missense_variant False ADGRB2@p.R1447C 1 0.265536723 ENSG00000121753 chr1:31730841-31730841;G/A missense_variant False ADGRA3@p.T172A 1 0.428571429 ENSG00000152990 chr4:22447471-22447471;T/C missense_variant False ADGRB2@p.G494S 1 0.155844156 ENSG00000121753 chr1:31741905-31741905;C/T missense_variant False ADGRB2@p.D271H 1 0.205607477 ENSG00000121753 chr1:31756026-31756026;C/G missense_variant False ADGRB2@p.A174S 1 0.157142857 ENSG00000121753 chr1:31756317-31756317;C/A missense_variant False ADGRB1@p.E730Q 1 0.548192771 ENSG00000181790 chr8:142484034-142484034;G/C missense_variant False ADGRB1@p.E722Q 1 0.161716172 ENSG00000181790 chr8:142484010-142484010;G/C missense_variant False ADGRB1@p.E579K 1 0.115384615 ENSG00000181790 chr8:142479701-142479701;G/A missense_variant False ADGRB3@p.I479T 1 0.1 ENSG00000135298 chr6:68956720-68956720;T/C missense_variant False ADGRB3@p.L1270F 1 0.090909091 ENSG00000135298 chr6:69361083-69361083;G/C missense_variant False ADGRB3@p.R363P 1 0.229166667 ENSG00000135298 chr6:68943887-68943887;G/C missense_variant False ADGRB3@p.R588Q 1 0.738636364 ENSG00000135298 chr6:68993796-68993796;G/A missense_variant False ADGRB3@p.R855C 1 0.796875 ENSG00000135298 chr6:69233372-69233372;C/T missense_variant False ADGRB3@p.R980K 1 0.24691358 ENSG00000135298 chr6:69324996-69324996;G/A missense_variant False ADGRB3@p.T186R 1 0.318181818 ENSG00000135298 chr6:68639232-68639232;C/G missense_variant False ADGRD1@p.A648T 1 0.17989418 ENSG00000111452 chr12:131108778-131108778;G/A missense_variant False ADGRD1@p.D870N 1 0.59375 ENSG00000111452 chr12:131139246-131139246;G/A missense_variant False ADGRD1@p.E103K 1 0.195121951 ENSG00000111452 chr12:130971577-130971577;G/A missense_variant False ADGRD1@p.E227K 1 0.266666667 ENSG00000111452 chr12:130987283-130987283;G/A missense_variant False ADGRD1@p.E653Q 1 0.0546875 ENSG00000111452 chr12:131108793-131108793;G/C missense_variant False ADGRD1@p.G127V 1 0.159663866 ENSG00000111452 chr12:130981953-130981953;G/T missense_variant False ADGRD1@p.H442P 1 0.316455696 ENSG00000111452 chr12:131006041-131006041;A/C missense_variant False ADGRD1@p.I802L 1 0.293333333 ENSG00000111452 chr12:131136982-131136982;A/C missense_variant False ADGRD1@p.S396F 1 0.25 ENSG00000111452 chr12:131004228-131004228;C/T missense_variant False ADGRE1@p.L692F 1 0.299065421 ENSG00000174837 chr19:6926455-6926455;G/C missense_variant False ADGRB1@p.D354E 1 0.368421053 ENSG00000181790 chr8:142477118-142477118;C/G missense_variant False ADGRA3@p.S1168L 1 0.144578313 ENSG00000152990 chr4:22388168-22388168;G/A missense_variant False ADD1@p.S225C 1 0.448979592 ENSG00000087274 chr4:2894664-2894664;C/G missense_variant False ADD2@p.T657M 1 0.104046243 ENSG00000075340 chr2:70663636-70663636;G/A missense_variant False ADD3@p.K617N 1 0.12173913 ENSG00000148700 chr10:110133348-110133348;G/C missense_variant False ADD3@p.E197Q 1 0.076923077 ENSG00000148700 chr10:110118608-110118608;G/C missense_variant False ADD3@p.D96N 1 0.379032258 ENSG00000148700 chr10:110112867-110112867;G/A missense_variant False ADD3@p.D209N 1 0.539473684 ENSG00000148700 chr10:110118644-110118644;G/A missense_variant False ADD3@p.A408T 1 0.558823529 ENSG00000148700 chr10:110124095-110124095;G/A missense_variant False ADD2@p.V523I 1 0.183098592 ENSG00000075340 chr2:70676822-70676822;C/T missense_variant False ADD2@p.R478C 1 0.485294118 ENSG00000075340 chr2:70677829-70677829;G/A missense_variant False ADGRA3@p.S1079Y 1 0.393442623 ENSG00000152990 chr4:22388435-22388435;G/T missense_variant False ADD2@p.R33C 1 0.142857143 ENSG00000075340 chr2:70706312-70706312;G/A missense_variant False ADD2@p.E660K 1 0.193717277 ENSG00000075340 chr2:70663628-70663628;C/T missense_variant False ADD2@p.E566Q 1 0.146341463 ENSG00000075340 chr2:70674723-70674723;C/G missense_variant False ADD2@p.E469K 1 0.597014925 ENSG00000075340 chr2:70677856-70677856;C/T missense_variant False ADD2@p.A513P 1 0.388888889 ENSG00000075340 chr2:70676852-70676852;C/G missense_variant False ADD1@p.V28A 1 0.376068376 ENSG00000087274 chr4:2875998-2875998;T/C missense_variant False ADD3@p.L255F 1 0.275862069 ENSG00000148700 chr10:110119256-110119256;C/T missense_variant False ADD3@p.Q362K 1 0.120879121 ENSG00000148700 chr10:110122233-110122233;C/A missense_variant False ADD3@p.Y262C 1 0.383333333 ENSG00000148700 chr10:110119278-110119278;A/G missense_variant False ADGRA1@p.E311K 1 0.322580645 ENSG00000197177 chr10:133128759-133128759;G/A missense_variant False ADGRA1@p.E80K 1 0.666666667 ENSG00000197177 chr10:133071975-133071975;G/A missense_variant False ADGRA1@p.H62Y 1 0.135135135 ENSG00000197177 chr10:133098692-133098692;C/T missense_variant False ADGRA1@p.L57Q 1 0.664285714 ENSG00000197177 chr10:133098678-133098678;T/A missense_variant False ADGRA2@p.E111D 1 0.102739726 ENSG00000020181 chr8:37814962-37814962;G/C missense_variant False ADGRA2@p.H445N 1 0.180327869 ENSG00000020181 chr8:37833724-37833724;C/A missense_variant False ADGRA2@p.L646F 1 0.589041096 ENSG00000020181 chr8:37835656-37835656;C/T missense_variant False ADGRA2@p.P582R 1 0.2 ENSG00000020181 chr8:37835310-37835310;C/G missense_variant False ADGRA2@p.P677S 1 0.303030303 ENSG00000020181 chr8:37835749-37835749;C/T missense_variant False ADGRA2@p.R964S 1 0.194871795 ENSG00000020181 chr8:37841230-37841230;G/T missense_variant False ADGRA3@p.H250Y 1 0.428571429 ENSG00000152990 chr4:22442822-22442822;G/A missense_variant False ADGRA3@p.L518F 1 0.260869565 ENSG00000152990 chr4:22424244-22424244;G/A missense_variant False ADGRA3@p.R1267W 1 0.546875 ENSG00000152990 chr4:22387872-22387872;T/A missense_variant False ADGRA3@p.R398C 1 0.19047619 ENSG00000152990 chr4:22436535-22436535;G/A missense_variant False ADCY2@p.R756W 1 0.176136364 ENSG00000078295 chr5:7772983-7772983;C/T missense_variant False ADCY2@p.R263T 1 0.076923077 ENSG00000078295 chr5:7690758-7690758;G/C missense_variant False ADCY2@p.P894L 1 0.128205128 ENSG00000078295 chr5:7802270-7802270;C/T missense_variant False ADAMTSL3@p.D1097H 1 0.303571429 ENSG00000156218 chr15:83982917-83982917;G/C missense_variant False ADAMTSL3@p.K1670N 1 0.450980392 ENSG00000156218 chr15:84037740-84037740;A/T missense_variant False ADAMTSL3@p.E303K 1 0.578431373 ENSG00000156218 chr15:83870906-83870906;G/A missense_variant False ADAMTSL3@p.E1274K 1 0.127906977 ENSG00000156218 chr15:83988794-83988794;G/A missense_variant False ADAMTSL3@p.E1022K 1 0.318181818 ENSG00000156218 chr15:83982692-83982692;G/A missense_variant False ADAMTSL3@p.E1010K 1 0.260416667 ENSG00000156218 chr15:83982656-83982656;G/A missense_variant False ADAMTSL3@p.D223N 1 0.213483146 ENSG00000156218 chr15:83838155-83838155;G/A missense_variant False ADAMTSL3@p.D1048N 1 0.247619048 ENSG00000156218 chr15:83982770-83982770;G/A missense_variant False ADAMTSL1@p.R965C 1 0.08490566 ENSG00000178031 chr9:18777122-18777122;C/T missense_variant False ADAMTSL3@p.A669V 1 0.301886792 ENSG00000156218 chr15:83923922-83923922;C/T missense_variant False ADAMTSL2@p.T57M 1 0.673076923 ENSG00000197859 chr9:133537484-133537484;C/T missense_variant False ADAMTSL2@p.S945C 1 0.181102362 ENSG00000197859 chr9:133574842-133574842;C/G missense_variant False ADAMTSL2@p.S81P 1 0.676767677 ENSG00000197859 chr9:133538356-133538356;T/C missense_variant False ADAMTSL2@p.H950Tfs*? 1 0.287878788 ENSG00000197859 chr9:133574850-133574850;C/- frameshift_variant False ADAMTSL1@p.T719M 1 0.6 ENSG00000178031 chr9:18753447-18753447;C/T missense_variant False ADAMTSL3@p.P420T 1 0.19047619 ENSG00000156218 chr15:83891375-83891375;C/A missense_variant False ADAMTSL3@p.R1336T 1 0.166666667 ENSG00000156218 chr15:84014575-84014575;G/C missense_variant False ADAMTSL3@p.R1525T 1 0.1 ENSG00000156218 chr15:84025354-84025354;G/C missense_variant False ADAMTSL3@p.R255Q 1 0.166666667 ENSG00000156218 chr15:83858802-83858802;G/A missense_variant False ADAMTSL3@p.R592H 1 0.561797753 ENSG00000156218 chr15:83913166-83913166;G/A missense_variant False ADAMTSL4@p.D816E 1 0.449275362 ENSG00000143382 chr1:150558538-150558538;T/A missense_variant False ADAMTSL4@p.E1067K 1 0.785714286 ENSG00000143382 chr1:150560170-150560170;G/A missense_variant False ADAMTSL4@p.E407Q 1 0.2 ENSG00000143382 chr1:150554452-150554452;G/C missense_variant False ADAMTSL4@p.G366A 1 0.209677419 ENSG00000143382 chr1:150554088-150554088;G/C missense_variant False ADAMTSL4@p.S304W 1 0.25 ENSG00000143382 chr1:150553902-150553902;C/G missense_variant False ADAMTSL4@p.V1044A 1 0.045454545 ENSG00000143382 chr1:150560102-150560102;T/C missense_variant False ADAMTSL4@p.W850C 1 0.176470588 ENSG00000143382 chr1:150558640-150558640;G/C missense_variant False ADAMTSL5@p.E177K 1 0.388888889 ENSG00000185761 chr19:1508070-1508070;C/T missense_variant False ADAMTSL5@p.H414R 1 0.333333333 ENSG00000185761 chr19:1506190-1506190;T/C missense_variant False ADAP1@p.F298L 1 0.224137931 ENSG00000105963 chr7:899235-899235;G/T missense_variant False ADAP1@p.K261N 1 0.4 ENSG00000105963 chr7:900114-900114;C/G missense_variant False ADAR@p.E428Q 1 0.292682927 ENSG00000160710 chr1:154601360-154601360;C/G missense_variant False ADAMTSL1@p.R975K 1 0.127272727 ENSG00000178031 chr9:18777153-18777153;G/A missense_variant False ADAMTSL1@p.R725H 1 0.159090909 ENSG00000178031 chr9:18753465-18753465;G/A missense_variant False ADAR@p.H586Y 1 0.203125 ENSG00000160710 chr1:154598431-154598431;G/A missense_variant False ADAMTS9@p.P871L 1 0.272727273 ENSG00000163638 chr3:64622272-64622272;G/A missense_variant False ADAMTS9@p.R304I 1 0.037441498 ENSG00000163638 chr3:64658560-64658560;C/A missense_variant False ADAMTS9@p.R1494Q 1 0.325 ENSG00000163638 chr3:64568411-64568411;C/T missense_variant False ADAMTS9@p.R1323C 1 0.245901639 ENSG00000163638 chr3:64601994-64601994;G/A missense_variant False ADAMTS9@p.R1085P 1 0.174418605 ENSG00000163638 chr3:64613445-64613445;C/G missense_variant False ADAMTS9@p.Q1410E 1 0.364444444 ENSG00000163638 chr3:64594386-64594386;G/C missense_variant False ADAMTS9@p.P986Q 1 0.415492958 ENSG00000163638 chr3:64616027-64616027;G/T missense_variant False ADAMTS9@p.E422Q 1 0.182857143 ENSG00000163638 chr3:64654405-64654405;C/G missense_variant False ADAMTSL1@p.R1698C 1 0.203703704 ENSG00000178031 chr9:18906822-18906822;C/T missense_variant False ADAMTS9@p.E1589K 1 0.279661017 ENSG00000163638 chr3:64550996-64550996;C/T missense_variant False ADAMTS9@p.E1094K 1 0.145833333 ENSG00000163638 chr3:64613419-64613419;C/T missense_variant False ADAMTS9@p.D196N 1 0.774193548 ENSG00000163638 chr3:64681294-64681294;C/T missense_variant False ADAMTS9@p.C724S 1 0.076086957 ENSG00000163638 chr3:64633477-64633477;A/T missense_variant False ADAMTS8@p.Y572C 1 0.490384615 ENSG00000134917 chr11:130411452-130411452;T/C missense_variant False ADAMTS8@p.Q590H 1 0.239316239 ENSG00000134917 chr11:130408921-130408921;C/G missense_variant False ADAMTS9@p.R704K 1 0.337209302 ENSG00000163638 chr3:64633536-64633536;C/T missense_variant False ADAMTS9@p.T431M 1 0.428571429 ENSG00000163638 chr3:64654377-64654377;G/A missense_variant False ADAMTS9@p.V1043F 1 0.396825397 ENSG00000163638 chr3:64615383-64615383;C/A missense_variant False ADAMTS9@p.V1912A 1 0.222222222 ENSG00000163638 chr3:64522244-64522244;A/G missense_variant False ADAMTS9@p.W1559L 1 0.202380952 ENSG00000163638 chr3:64561600-64561600;C/A missense_variant False ADAMTS9@p.W881C 1 0.352 ENSG00000163638 chr3:64622241-64622241;C/A missense_variant False ADAMTSL1@p.D305H 1 0.113636364 ENSG00000178031 chr9:18657717-18657717;G/C missense_variant False ADAMTSL1@p.D436H 1 0.283870968 ENSG00000178031 chr9:18680481-18680481;G/C missense_variant False ADAMTSL1@p.E1364K 1 0.125 ENSG00000178031 chr9:18826439-18826439;G/A missense_variant False ADAMTSL1@p.E629K 1 0.204819277 ENSG00000178031 chr9:18721544-18721544;G/A missense_variant False ADAMTSL1@p.L635F 1 0.048076923 ENSG00000178031 chr9:18721564-18721564;G/C missense_variant False ADAMTSL1@p.P1017S 1 0.6 ENSG00000178031 chr9:18777278-18777278;C/T missense_variant False ADAMTSL1@p.P1058L 1 0.263157895 ENSG00000178031 chr9:18777402-18777402;C/T missense_variant False ADAMTSL1@p.P951L 1 0.181818182 ENSG00000178031 chr9:18777081-18777081;C/T missense_variant False ADAMTSL1@p.Q104K 1 0.242718447 ENSG00000178031 chr9:18574102-18574102;C/A missense_variant False ADAMTSL1@p.Q721K 1 0.25 ENSG00000178031 chr9:18753452-18753452;C/A missense_variant False ADAMTSL1@p.R1168C 1 0.272727273 ENSG00000178031 chr9:18777731-18777731;C/T missense_variant False ADAR@p.G96D 1 0.767295597 ENSG00000160710 chr1:154602355-154602355;C/T missense_variant False ADAR@p.K613N 1 0.181818182 ENSG00000160710 chr1:154597923-154597923;C/G missense_variant False ADCY2@p.M40I 1 0.3125 ENSG00000078295 chr5:7396416-7396416;G/A missense_variant False ADCY10@p.L1055V 1 0.165137615 ENSG00000143199 chr1:167836455-167836455;G/C missense_variant False ADCY10@p.R109Q 1 0.153846154 ENSG00000143199 chr1:167901772-167901772;C/T missense_variant False ADCY10@p.P1015T 1 0.3 ENSG00000143199 chr1:167837283-167837283;G/T missense_variant False ADCY10@p.N223Qfs*3 1 0.333333333 ENSG00000143199 chr1:167896667-167896668;-/G frameshift_variant False ADCY10@p.M1236I 1 0.218487395 ENSG00000143199 chr1:167829309-167829309;C/T missense_variant False ADCY10@p.L1449I 1 0.177419355 ENSG00000143199 chr1:167818209-167818209;G/T missense_variant False ADCY10@p.L1224V 1 0.110429448 ENSG00000143199 chr1:167829347-167829347;G/C missense_variant False ADCY10@p.I1030L 1 0.428571429 ENSG00000143199 chr1:167836530-167836530;T/G missense_variant False ADCK5@p.Q350H 1 0.138461538 ENSG00000173137 chr8:144391976-144391976;G/C missense_variant False ADCY10@p.G969S 1 0.31147541 ENSG00000143199 chr1:167845665-167845665;C/T missense_variant False ADCY10@p.G91A 1 0.045833333 ENSG00000143199 chr1:167902036-167902036;C/G missense_variant False ADCY10@p.F656C 1 0.492 ENSG00000143199 chr1:167856369-167856369;A/C missense_variant False ADCY10@p.E739Q 1 0.073170732 ENSG00000143199 chr1:167854446-167854446;C/G missense_variant False ADCY10@p.E358K 1 0.460526316 ENSG00000143199 chr1:167880558-167880558;C/T missense_variant False ADCY10@p.E309Q 1 0.204460967 ENSG00000143199 chr1:167883532-167883532;C/G missense_variant False ADCY10@p.R1189Q 1 0.138461538 ENSG00000143199 chr1:167833014-167833014;C/T missense_variant False ADCY10@p.S825F 1 0.104166667 ENSG00000143199 chr1:167846227-167846227;G/A missense_variant False ADCY10@p.T556I 1 0.409090909 ENSG00000143199 chr1:167861013-167861013;G/A missense_variant False ADCY10@p.V1585I 1 0.722513089 ENSG00000143199 chr1:167809758-167809758;C/T missense_variant False ADCY1@p.A1080V 1 0.156626506 ENSG00000164742 chr7:45713874-45713874;C/T missense_variant False ADCY1@p.F291L 1 0.305970149 ENSG00000164742 chr7:45610462-45610462;C/G missense_variant False ADCY1@p.L735Wfs*7 1 0.340425532 ENSG00000164742 chr7:45686090-45686090;C/- frameshift_variant False ADCY1@p.M512T 1 0.214285714 ENSG00000164742 chr7:45662144-45662144;T/C missense_variant False ADCY1@p.R716C 1 0.295081967 ENSG00000164742 chr7:45686034-45686034;C/T missense_variant False ADCY2@p.A731V 1 0.11752988 ENSG00000078295 chr5:7766784-7766784;C/T missense_variant False ADCY2@p.E844G 1 0.448275862 ENSG00000078295 chr5:7789703-7789703;A/G missense_variant False ADCY2@p.E964K 1 0.194915254 ENSG00000078295 chr5:7816872-7816872;G/A missense_variant False ADCY2@p.G121V 1 0.507462687 ENSG00000078295 chr5:7414724-7414724;G/T missense_variant False ADCY2@p.H969Y 1 0.157894737 ENSG00000078295 chr5:7816887-7816887;C/T missense_variant False ADCY2@p.I970T 1 0.261363636 ENSG00000078295 chr5:7816891-7816891;T/C missense_variant False ADCY2@p.L12M 1 0.25 ENSG00000078295 chr5:7396330-7396330;C/A missense_variant False ADCY2@p.L435F 1 0.614379085 ENSG00000078295 chr5:7707742-7707742;G/C missense_variant False ADCK5@p.R86P 1 0.318181818 ENSG00000173137 chr8:144383221-144383221;G/C missense_variant False ADCK5@p.I490M 1 0.75862069 ENSG00000173137 chr8:144392647-144392647;C/G missense_variant False ADAR@p.L1223V 1 0.273333333 ENSG00000160710 chr1:154584820-154584820;G/C missense_variant False ADARB1@p.E700K 1 0.357142857 ENSG00000197381 chr21:45222069-45222069;G/A missense_variant False ADARB2@p.R328W 1 0.4 ENSG00000185736 chr10:1363123-1363123;G/A missense_variant False ADARB2@p.R304W 1 0.470588235 ENSG00000185736 chr10:1363195-1363195;G/A missense_variant False ADARB2@p.K324N 1 0.366666667 ENSG00000185736 chr10:1363133-1363133;C/G missense_variant False ADARB2@p.G314D 1 0.285714286 ENSG00000185736 chr10:1363164-1363164;C/T missense_variant False ADARB2@p.A198V 1 0.5 ENSG00000185736 chr10:1363512-1363512;G/A missense_variant False ADARB1@p.Q427E 1 0.12195122 ENSG00000197381 chr21:45183393-45183393;C/G missense_variant False ADAR@p.S898F 1 0.279503106 ENSG00000160710 chr1:154589438-154589438;G/A missense_variant False ADCK5@p.G151E 1 0.24137931 ENSG00000173137 chr8:144390965-144390965;G/A missense_variant False ADAR@p.R91K 1 0.183908046 ENSG00000160710 chr1:154602370-154602370;C/T missense_variant False ADAR@p.R817T 1 0.355769231 ENSG00000160710 chr1:154590230-154590230;C/G missense_variant False ADAR@p.R116S 1 0.1015625 ENSG00000160710 chr1:154602294-154602294;C/G missense_variant False ADAR@p.Q105H 1 0.353535354 ENSG00000160710 chr1:154602327-154602327;C/G missense_variant False ADAR@p.P547S 1 0.065217391 ENSG00000160710 chr1:154598548-154598548;G/A missense_variant False ADAR@p.L792F 1 0.136363636 ENSG00000160710 chr1:154590304-154590304;C/G missense_variant False ADARB2@p.V131A 1 0.4 ENSG00000185736 chr10:1363713-1363713;A/G missense_variant False ADAT1@p.A247D 1 0.255813953 ENSG00000065457 chr16:75612546-75612546;G/T missense_variant False ADAT1@p.D386H 1 0.294736842 ENSG00000065457 chr16:75608876-75608876;C/G missense_variant False ADAT1@p.E30K 1 0.289473684 ENSG00000065457 chr16:75620712-75620712;C/T missense_variant False ADAT1@p.G291R 1 0.18556701 ENSG00000065457 chr16:75612415-75612415;C/T missense_variant False ADAT1@p.H279Y 1 0.220338983 ENSG00000065457 chr16:75612451-75612451;G/A missense_variant False ADAT1@p.H29Y 1 0.065934066 ENSG00000065457 chr16:75620715-75620715;G/A missense_variant False ADAT1@p.K78N 1 0.240506329 ENSG00000065457 chr16:75620270-75620270;C/G missense_variant False ADAT1@p.Q350H 1 0.224719101 ENSG00000065457 chr16:75608982-75608982;C/G missense_variant False ADAT2@p.E161K 1 0.727272727 ENSG00000189007 chr6:143428663-143428663;C/T missense_variant False ADAT2@p.R70L 1 0.129032258 ENSG00000189007 chr6:143433974-143433974;C/A missense_variant False ADCK1@p.E109K 1 0.362068966 ENSG00000063761 chr14:77859181-77859181;G/A missense_variant False ADCK1@p.V314I 1 0.134615385 ENSG00000063761 chr14:77924538-77924538;G/A missense_variant False ADCK2@p.C72F 1 0.173913043 ENSG00000133597 chr7:140673545-140673545;G/T missense_variant False ADCK2@p.E348K 1 0.261904762 ENSG00000133597 chr7:140674719-140674719;G/A missense_variant False ADCK2@p.K423N 1 0.466666667 ENSG00000133597 chr7:140681101-140681101;G/C missense_variant False ADCK2@p.V523L 1 0.085714286 ENSG00000133597 chr7:140689606-140689606;G/C missense_variant False ARHGEF18@p.E733K 1 0.148148148 ENSG00000104880 chr19:7466936-7466936;G/A missense_variant False ARHGEF18@p.L445M 1 0.300884956 ENSG00000104880 chr19:7453670-7453670;C/A missense_variant False ARHGEF18@p.P156A 1 0.18579235 ENSG00000104880 chr19:7441738-7441738;C/G missense_variant False C11orf42@p.R71W 1 0.823529412 chr11:6209988-6209988;C/T missense_variant False C11orf53@p.G91R 1 0.696202532 chr11:111284183-111284183;G/A missense_variant False C11orf53@p.G118E 1 0.6 chr11:111284265-111284265;G/A missense_variant False C11orf53@p.E97Q 1 0.135338346 chr11:111284201-111284201;G/C missense_variant False C11orf49@p.F78L 1 0.35483871 chr11:47052470-47052470;T/C missense_variant False C11orf45@p.R52S 1 0.134615385 chr11:128903492-128903492;C/A missense_variant False C11orf42@p.S240_P242del 1 0.247619048 chr11:6210493-6210501;CATCAGCAC/- inframe_deletion False C11orf24@p.R230C 1 0.255813953 chr11:68262307-68262307;G/A missense_variant False C11orf54@p.L105V 1 0.145695364 chr11:93754020-93754020;C/G missense_variant False C11orf24@p.R203T 1 0.185714286 chr11:68262387-68262387;C/G missense_variant False C11orf24@p.M126I 1 0.133333333 chr11:68262617-68262617;C/G missense_variant False C11orf24@p.K431del 1 0.2 chr11:68261702-68261704;CTT/- inframe_deletion False C11orf24@p.E17K 1 0.261904762 chr11:68263719-68263719;C/T missense_variant False C11orf24@p.D83N 1 0.261363636 chr11:68262748-68262748;C/T missense_variant False C11orf24@p.A424V 1 0.451219512 chr11:68261724-68261724;G/A missense_variant False C11orf53@p.H217Y 1 0.333333333 chr11:111285836-111285836;C/T missense_variant False C11orf58@p.P130T 1 0.909090909 chr11:16754940-16754940;C/A missense_variant False C16orf71@p.E128V 1 0.395061728 chr16:4740259-4740259;A/T missense_variant False C11orf80@p.R490S 1 0.416666667 chr11:66828311-66828311;C/A missense_variant False C12orf40@p.Q505E 1 0.137931034 chr12:39720805-39720805;C/G missense_variant False C12orf40@p.L291I 1 0.193548387 chr12:39682795-39682795;C/A missense_variant False C12orf40@p.K121N 1 0.4 chr12:39646867-39646867;G/T missense_variant False C12orf40@p.D50H 1 0.259615385 chr12:39643863-39643863;G/C missense_variant False C12orf40@p.C62S 1 0.14 chr12:39643900-39643900;G/C missense_variant False C11orf94@p.D95N 1 0.137096774 chr11:45906583-45906583;C/T missense_variant False C11orf80@p.L271M 1 0.202898551 chr11:66804110-66804110;C/A missense_variant False C11orf58@p.S82C 1 0.87037037 chr11:16752821-16752821;C/G missense_variant False C11orf80@p.D525N 1 0.154929577 chr11:66838418-66838418;G/A missense_variant False C11orf71@p.R54W 1 0.294117647 chr11:114400172-114400172;G/A missense_variant False C11orf71@p.E64K 1 0.18 chr11:114400142-114400142;C/T missense_variant False C11orf65@p.T306M 1 0.224489796 chr11:108383046-108383046;G/A missense_variant False C11orf65@p.R168T 1 0.428571429 chr11:108405486-108405486;C/G missense_variant False C11orf65@p.L203V 1 0.100917431 chr11:108393332-108393332;G/C missense_variant False C11orf1@p.E119K 1 0.267605634 chr11:111883782-111883782;G/A missense_variant False C11orf16@p.P401T 1 0.555555556 chr11:8925466-8925466;G/T missense_variant False C11orf16@p.P369S 1 0.20754717 chr11:8925562-8925562;G/A missense_variant False C10orf62@p.E159K 1 0.289719626 chr10:97590372-97590372;G/A missense_variant False C10orf88@p.D395Y 1 0.2 chr10:122932582-122932582;C/A missense_variant False C10orf82@p.R125T 1 0.447154472 chr10:116664848-116664848;C/G missense_variant False C10orf71@p.Q689H 1 0.230769231 chr10:49324612-49324612;G/C missense_variant False C10orf71@p.E485K 1 0.153846154 chr10:49323998-49323998;G/A missense_variant False C10orf71@p.E392K 1 0.232876712 chr10:49323719-49323719;G/A missense_variant False C10orf67@p.E135Q 1 0.146341463 chr10:23322462-23322462;C/G missense_variant False C10orf53@p.E150Q 1 0.583333333 chr10:49708591-49708591;G/C missense_variant False C11orf16@p.P262T 1 0.422680412 chr11:8925883-8925883;G/T missense_variant False C10orf120@p.E80Q 1 0.076923077 chr10:122699351-122699351;C/G missense_variant False C10orf120@p.E232Q 1 0.347826087 chr10:122698047-122698047;C/G missense_variant False BZW2@p.R224T 1 0.243243243 ENSG00000136261 chr7:16694853-16694853;G/C missense_variant False BZW2@p.E23Q 1 0.12987013 ENSG00000136261 chr7:16674420-16674420;G/C missense_variant False BZW1@p.R254H 1 0.518518519 ENSG00000082153 chr2:200818335-200818335;G/A missense_variant False BZW1@p.R19K 1 0.269230769 ENSG00000082153 chr2:200813273-200813273;G/A missense_variant False C10orf88@p.E305K 1 0.385964912 chr10:122937895-122937895;C/T missense_variant False C10orf88@p.M166I 1 0.181818182 chr10:122948799-122948799;C/T missense_variant False C10orf88@p.R112M 1 0.291139241 chr10:122952862-122952862;C/A missense_variant False C10orf88@p.S242F 1 0.223021583 chr10:122938083-122938083;G/A missense_variant False C10orf90@p.E170K 1 0.375 chr10:126504692-126504692;C/T missense_variant False C10orf90@p.E170Q 1 0.310559006 chr10:126504692-126504692;C/G missense_variant False C10orf90@p.E317K 1 0.325581395 chr10:126504251-126504251;C/T missense_variant False C10orf90@p.G386R 1 0.721311475 chr10:126504044-126504044;C/T missense_variant False C10orf90@p.H83N 1 0.258333333 chr10:126504953-126504953;G/T missense_variant False C10orf90@p.H97Y 1 0.542168675 chr10:126504911-126504911;G/A missense_variant False C10orf90@p.P124dup 1 0.193877551 chr10:126504828-126504829;-/GGC inframe_insertion False C10orf90@p.Q279E 1 0.3359375 chr10:126504365-126504365;G/C missense_variant False C10orf90@p.Q695E 1 0.518518519 chr10:126425881-126425881;G/C missense_variant False C10orf90@p.R80C 1 0.146666667 chr10:126504962-126504962;G/A missense_variant False C10orf99@p.F17L 1 0.38372093 chr10:84173902-84173902;C/A missense_variant False C11orf16@p.E343K 1 0.467532468 chr11:8925640-8925640;C/T missense_variant False C11orf16@p.H238Y 1 0.10619469 chr11:8925955-8925955;G/A missense_variant False C12orf40@p.R539T 1 0.125 chr12:39720908-39720908;G/C missense_variant False C12orf42@p.A268V 1 0.369565217 chr12:103302388-103302388;G/A missense_variant False C12orf42@p.E139K 1 0.512820513 chr12:103306190-103306190;C/T missense_variant False C14orf39@p.V404A 1 0.301075269 chr14:60457064-60457064;A/G missense_variant False C15orf39@p.D504N 1 0.19047619 chr15:75207558-75207558;G/A missense_variant False C15orf39@p.D158H 1 0.381679389 chr15:75206520-75206520;G/C missense_variant False C15orf39@p.C41Y 1 0.102040816 chr15:75206170-75206170;G/A missense_variant False C14orf93@p.R376H 1 0.483695652 chr14:22987973-22987973;C/T missense_variant False C14orf93@p.F447L 1 0.158730159 chr14:22987491-22987491;G/C missense_variant False C14orf93@p.E531Q 1 0.142857143 chr14:22987241-22987241;C/G missense_variant False C14orf39@p.R386K 1 0.58974359 chr14:60458700-60458700;C/T missense_variant False C12orf71@p.F89L 1 0.117647059 chr12:27082217-27082217;G/T missense_variant False C14orf39@p.E60K 1 0.086956522 chr14:60483746-60483746;C/T missense_variant False C14orf39@p.E416K 1 0.220720721 chr14:60457029-60457029;C/T missense_variant False C14orf39@p.D194H 1 0.155963303 chr14:60469628-60469628;C/G missense_variant False C14orf39@p.A459T 1 0.23880597 chr14:60455129-60455129;C/T missense_variant False C14orf28@p.E203Q 1 0.222972973 chr14:44903289-44903289;G/C missense_variant False C12orf71@p.V235M 1 0.05625 chr12:27081281-27081281;C/T missense_variant False C15orf39@p.G188V 1 0.583333333 chr15:75206611-75206611;G/T missense_variant False C15orf39@p.G314A 1 0.425 chr15:75206989-75206989;G/C missense_variant False C15orf39@p.H457Y 1 0.1875 chr15:75207417-75207417;C/T missense_variant False C15orf39@p.P558L 1 0.352941176 chr15:75207721-75207721;C/T missense_variant False C15orf39@p.R290H 1 0.416666667 chr15:75206917-75206917;G/A missense_variant False C15orf39@p.R903H 1 0.537037037 chr15:75208756-75208756;G/A missense_variant False C15orf39@p.S169L 1 0.19047619 chr15:75206554-75206554;C/T missense_variant False C15orf39@p.S686F 1 0.419354839 chr15:75208105-75208105;C/T missense_variant False C15orf39@p.V647M 1 0.272727273 chr15:75207987-75207987;G/A missense_variant False C15orf40@p.K147E 1 0.232876712 chr15:83005620-83005620;T/C missense_variant False C15orf40@p.P94A 1 0.31884058 chr15:83008634-83008634;G/C missense_variant False C16orf46@p.E120K 1 0.21182266 chr16:81061991-81061991;C/T missense_variant False C16orf46@p.E60Q 1 0.106666667 chr16:81063778-81063778;C/G missense_variant False C16orf46@p.L355V 1 0.12745098 chr16:81061286-81061286;G/C missense_variant False C16orf46@p.R76S 1 0.09929078 chr16:81062121-81062121;C/A missense_variant False C16orf46@p.S232C 1 0.239669421 chr16:81061654-81061654;G/C missense_variant False C16orf70@p.P51T 1 0.552325581 chr16:67125962-67125962;C/A missense_variant False C12orf71@p.Q77E 1 0.148148148 chr12:27082255-27082255;G/C missense_variant False C12orf66@p.L266F 1 0.298136646 chr12:64194384-64194384;G/A missense_variant False C12orf43@p.E28Q 1 0.185714286 chr12:121016393-121016393;C/G missense_variant False C12orf4@p.E404Q 1 0.223880597 chr12:4505333-4505333;C/G missense_variant False C12orf50@p.H321Y 1 0.263636364 chr12:87986015-87986015;G/A missense_variant False C12orf50@p.H321D 1 0.127388535 chr12:87986015-87986015;G/C missense_variant False C12orf50@p.D200N 1 0.197802198 chr12:87989366-87989366;C/T missense_variant False C12orf4@p.M502I 1 0.459770115 chr12:4490582-4490582;C/T missense_variant False C12orf4@p.L74R 1 0.171428571 chr12:4534260-4534260;A/C missense_variant False C12orf4@p.K183N 1 0.093023256 chr12:4525541-4525541;T/A missense_variant False C12orf4@p.E117Q 1 0.042253521 chr12:4530026-4530026;C/G missense_variant False C12orf66@p.L240V 1 0.226415094 chr12:64194462-64194462;G/C missense_variant False C12orf45@p.I40K 1 0.388888889 chr12:104988170-104988170;T/A missense_variant False C12orf45@p.F75Nfs*13 1 0.189189189 chr12:104991730-104991731;-/CA frameshift_variant False C12orf45@p.E64Q 1 0.18 chr12:104988241-104988241;G/C missense_variant False C12orf45@p.D70H 1 0.181818182 chr12:104991717-104991717;G/C missense_variant False C12orf43@p.R39C 1 0.148648649 chr12:121016360-121016360;G/A missense_variant False C12orf43@p.G224R 1 0.267241379 chr12:121004272-121004272;C/G missense_variant False C12orf50@p.K325E 1 0.19047619 chr12:87986003-87986003;T/C missense_variant False C12orf50@p.L66V 1 0.283950617 chr12:87998128-87998128;G/C missense_variant False C12orf50@p.M305I 1 0.16 chr12:87986319-87986319;C/T missense_variant False C12orf54@p.D60H 1 0.245762712 chr12:48490821-48490821;G/C missense_variant False C12orf54@p.M29I 1 0.160493827 chr12:48486199-48486199;G/C missense_variant False C12orf54@p.R95T 1 0.265306122 chr12:48494839-48494839;G/C missense_variant False C12orf56@p.D404N 1 0.363636364 chr12:64285964-64285964;C/T missense_variant False C12orf56@p.L25M 1 0.370786517 chr12:64390493-64390493;G/T missense_variant False C12orf56@p.R104C 1 0.539473684 chr12:64352999-64352999;G/A missense_variant False C12orf60@p.E171K 1 0.234042553 chr12:14823446-14823446;G/A missense_variant False C12orf60@p.E198K 1 0.481481481 chr12:14823527-14823527;G/A missense_variant False C12orf60@p.M234V 1 0.40625 chr12:14823635-14823635;A/G missense_variant False C12orf65@p.R141S 1 0.62 chr12:123256953-123256953;G/C missense_variant False C12orf66@p.E231Q 1 0.428571429 chr12:64194489-64194489;C/G missense_variant False C12orf66@p.E323K 1 0.069306931 chr12:64194213-64194213;C/T missense_variant False C12orf66@p.E42Q 1 0.578947368 chr12:64222114-64222114;C/G missense_variant False C12orf66@p.L213V 1 0.188679245 chr12:64194543-64194543;G/C missense_variant False BZW1@p.A76T 1 0.222222222 ENSG00000082153 chr2:200815502-200815502;G/A missense_variant False BYSL@p.E70K 1 0.184615385 ENSG00000112578 chr6:41921770-41921770;G/A missense_variant False BVES@p.L319V 1 0.459459459 ENSG00000112276 chr6:105115689-105115689;G/C missense_variant False BTG1@p.I147V 1 0.608247423 ENSG00000133639 chr12:92144157-92144157;T/C missense_variant False BTG2@p.S98T 1 0.168316832 ENSG00000159388 chr1:203307254-203307254;G/C missense_variant False BTG2@p.S98Rfs*10 1 0.213114754 ENSG00000159388 chr1:203307253-203307254;AG/- frameshift_variant False BTG2@p.R69G 1 0.441176471 ENSG00000159388 chr1:203307166-203307166;C/G missense_variant False BTG2@p.L134F 1 0.2 ENSG00000159388 chr1:203307361-203307361;C/T missense_variant False BTG2@p.H93Q 1 0.20754717 ENSG00000159388 chr1:203307240-203307240;C/G missense_variant False BTG2@p.G86E 1 0.212121212 ENSG00000159388 chr1:203307218-203307218;G/A missense_variant False BTG1@p.F57L 1 0.373626374 ENSG00000133639 chr12:92144425-92144425;G/T missense_variant False BTBD9@p.S320F 1 0.243589744 ENSG00000183826 chr6:38580293-38580293;G/A missense_variant False BTG1@p.A9T 1 0.30952381 ENSG00000133639 chr12:92145511-92145511;C/T missense_variant False BTF3L4@p.V28A 1 0.181818182 ENSG00000134717 chr1:52064853-52064853;T/C missense_variant False BTF3@p.V115M 1 0.384615385 ENSG00000145741 chr5:73502943-73502943;G/A missense_variant False BTF3@p.R72T 1 0.169811321 ENSG00000145741 chr5:73502501-73502501;G/C missense_variant False BTC@p.E157K 1 0.318181818 ENSG00000174808 chr4:74748109-74748109;C/T missense_variant False BTBD9@p.Y479C 1 0.161290323 ENSG00000183826 chr6:38288290-38288290;T/C missense_variant False BTG2@p.T101I 1 0.111111111 ENSG00000159388 chr1:203307263-203307263;C/T missense_variant False BTG4@p.E40Q 1 0.736842105 ENSG00000137707 chr11:111498659-111498659;C/G missense_variant False BTG4@p.R157S 1 0.139784946 ENSG00000137707 chr11:111497252-111497252;G/T missense_variant False BTK@p.E193K 1 0.048192771 ENSG00000010671 chrX:101362184-101362184;C/T missense_variant False BTK@p.M587L 1 0.047945205 ENSG00000010671 chrX:101353343-101353343;T/A missense_variant False BTK@p.N161T 1 0.366666667 ENSG00000010671 chrX:101362599-101362599;T/G missense_variant False BTLA@p.E147K 1 0.168421053 ENSG00000186265 chr3:112471320-112471320;C/T missense_variant False BTLA@p.F234L 1 0.391304348 ENSG00000186265 chr3:112466276-112466276;G/T missense_variant False BTLA@p.R179T 1 0.246153846 ENSG00000186265 chr3:112471223-112471223;C/G missense_variant False BTN1A1@p.H313Y 1 0.330128205 ENSG00000124557 chr6:26508530-26508530;C/T missense_variant False BTN1A1@p.P194A 1 0.934579439 ENSG00000124557 chr6:26505077-26505077;C/G missense_variant False BTN1A1@p.R410Q 1 0.743902439 ENSG00000124557 chr6:26508822-26508822;G/A missense_variant False BTN1A1@p.S7C 1 0.412844037 ENSG00000124557 chr6:26501306-26501306;C/G missense_variant False BTN1A1@p.V116I 1 0.295454545 ENSG00000124557 chr6:26501856-26501856;G/A missense_variant False BTN2A1@p.E296K 1 0.454545455 ENSG00000112763 chr6:26465358-26465358;G/A missense_variant False BTN2A1@p.S152L 1 0.168831169 ENSG00000112763 chr6:26463268-26463268;C/T missense_variant False BTN2A1@p.S193F 1 0.134020619 ENSG00000112763 chr6:26463391-26463391;C/T missense_variant False BTBD9@p.V172A 1 0.257894737 ENSG00000183826 chr6:38593998-38593998;A/G missense_variant False BTBD8@p.T67I 1 0.156862745 ENSG00000189195 chr1:92088748-92088748;C/T missense_variant False BTN2A1@p.S54L 1 0.178571429 ENSG00000112763 chr6:26459559-26459559;C/T missense_variant False BTBD11@p.E770Q 1 0.31147541 None chr12:107618234-107618234;G/C missense_variant False BTBD1@p.A23V 1 0.444444444 ENSG00000064726 chr15:83067084-83067084;G/A missense_variant False BTBD16@p.T228A 1 0.318181818 ENSG00000138152 chr10:122299025-122299025;A/G missense_variant False BTBD11@p.S31F 1 0.133333333 None chr12:107319032-107319032;C/T missense_variant False BTBD11@p.S1043L 1 0.470588235 None chr12:107657531-107657531;C/T missense_variant False BTBD11@p.R614H 1 0.160714286 None chr12:107612811-107612811;G/A missense_variant False BTBD11@p.G742R 1 0.125 None chr12:107617429-107617429;G/C missense_variant False BTBD10@p.S404Y 1 0.298701299 ENSG00000148925 chr11:13389048-13389048;G/T missense_variant False BTBD8@p.Q250E 1 0.382352941 ENSG00000189195 chr1:92129772-92129772;C/G missense_variant False BTBD10@p.R64T 1 0.1 ENSG00000148925 chr11:13421749-13421749;C/G missense_variant False BTBD10@p.R352T 1 0.233082707 ENSG00000148925 chr11:13403230-13403230;C/G missense_variant False BTBD10@p.R27C 1 0.429906542 ENSG00000148925 chr11:13445046-13445046;G/A missense_variant False BTBD10@p.Q302H 1 0.270588235 ENSG00000148925 chr11:13405759-13405759;C/G missense_variant False BTBD10@p.M292I 1 0.168539326 ENSG00000148925 chr11:13405789-13405789;C/G missense_variant False BTBD10@p.E260Q 1 0.343137255 ENSG00000148925 chr11:13413560-13413560;C/G missense_variant False BTBD2@p.F111L 1 0.222222222 ENSG00000133243 chr19:2015371-2015371;G/T missense_variant False BTBD2@p.H426D 1 0.324786325 ENSG00000133243 chr19:1986970-1986970;G/C missense_variant False BTBD2@p.Q184H 1 0.123076923 ENSG00000133243 chr19:1993152-1993152;C/G missense_variant False BTBD2@p.R296L 1 0.3125 ENSG00000133243 chr19:1990105-1990105;C/A missense_variant False BTBD2@p.T493M 1 0.365384615 ENSG00000133243 chr19:1986588-1986588;G/A missense_variant False BTBD3@p.A303V 1 0.197183099 ENSG00000132640 chr20:11923005-11923005;C/T missense_variant False BTBD3@p.G512R 1 0.380952381 ENSG00000132640 chr20:11923631-11923631;G/A missense_variant False BTBD3@p.K61N 1 0.137055838 ENSG00000132640 chr20:11918458-11918458;G/C missense_variant False BTBD3@p.L273I 1 0.540816327 ENSG00000132640 chr20:11922914-11922914;C/A missense_variant False BTBD7@p.D445H 1 0.839285714 ENSG00000011114 chr14:93263823-93263823;C/G missense_variant False BTBD7@p.E369K 1 0.218390805 ENSG00000011114 chr14:93293915-93293915;C/T missense_variant False BTBD7@p.E589K 1 0.563829787 ENSG00000011114 chr14:93251640-93251640;C/T missense_variant False BTBD7@p.E858K 1 0.24137931 ENSG00000011114 chr14:93245836-93245836;C/T missense_variant False BTBD7@p.Q689E 1 0.486842105 ENSG00000011114 chr14:93248532-93248532;G/C missense_variant False BTBD7@p.S1074L 1 0.281690141 ENSG00000011114 chr14:93242451-93242451;G/A missense_variant False BTBD7@p.S398L 1 0.116883117 ENSG00000011114 chr14:93263963-93263963;G/A missense_variant False BTBD7@p.T611M 1 0.236363636 ENSG00000011114 chr14:93251573-93251573;G/A missense_variant False BTN2A1@p.S481F 1 0.157480315 ENSG00000112763 chr6:26468407-26468407;C/T missense_variant False BTN2A2@p.E156K 1 0.196078431 ENSG00000124508 chr6:26388036-26388036;G/A missense_variant False BVES@p.E121K 1 0.241758242 ENSG00000112276 chr6:105125569-105125569;C/T missense_variant False BUB1B@p.E705K 1 0.197368421 ENSG00000156970 chr15:40208740-40208740;G/A missense_variant False BUB3@p.R314L 1 0.196078431 ENSG00000154473 chr10:123162798-123162798;G/T missense_variant False BUB3@p.R158T 1 0.207792208 ENSG00000154473 chr10:123160462-123160462;G/C missense_variant False BUB1B@p.S220C 1 0.490909091 ENSG00000156970 chr15:40183791-40183791;C/G missense_variant False BUB1B@p.R786T 1 0.6 ENSG00000156970 chr15:40210182-40210182;G/C missense_variant False BUB1B@p.L55V 1 0.24137931 ENSG00000156970 chr15:40165180-40165180;C/G missense_variant False BUB1B@p.E871K 1 0.278846154 ENSG00000156970 chr15:40213407-40213407;G/A missense_variant False BUB1B@p.D576H 1 0.129411765 ENSG00000156970 chr15:40202686-40202686;G/C missense_variant False BUB1@p.M448V 1 0.265306122 ENSG00000169679 chr2:110658677-110658677;T/C missense_variant False BUB1B@p.A173V 1 0.096385542 ENSG00000156970 chr15:40176610-40176610;C/T missense_variant False BUB1@p.S602C 1 0.073929961 ENSG00000169679 chr2:110655810-110655810;G/C missense_variant False BUB1@p.Q476R 1 0.246376812 ENSG00000169679 chr2:110658499-110658499;T/C missense_variant False BUB1@p.Q418H 1 0.328244275 ENSG00000169679 chr2:110660000-110660000;C/G missense_variant False BUB1@p.Q345E 1 0.081967213 ENSG00000169679 chr2:110661766-110661766;G/C missense_variant False BUB1@p.Q302P 1 0.465116279 ENSG00000169679 chr2:110666315-110666315;T/G missense_variant False BUD13@p.A546S 1 0.352459016 ENSG00000137656 chr11:116757814-116757814;C/A missense_variant False BUD13@p.A602V 1 0.412698413 ENSG00000137656 chr11:116748537-116748537;G/A missense_variant False BUD13@p.D338H 1 0.066666667 ENSG00000137656 chr11:116762577-116762577;C/G missense_variant False BUD13@p.K36N 1 0.666666667 ENSG00000137656 chr11:116772857-116772857;T/A missense_variant False BUD13@p.M545I 1 0.33744856 ENSG00000137656 chr11:116757815-116757815;C/A missense_variant False BUD13@p.P200S 1 0.25 ENSG00000137656 chr11:116762991-116762991;G/A missense_variant False BUD13@p.R178K 1 0.12 ENSG00000137656 chr11:116763056-116763056;C/T missense_variant False BUD13@p.R178S 1 0.115537849 ENSG00000137656 chr11:116763055-116763055;C/A missense_variant False BUD13@p.S151C 1 0.242424242 ENSG00000137656 chr11:116763137-116763137;G/C missense_variant False BUD23@p.D190Y 1 0.304347826 ENSG00000071462 chr7:73693386-73693386;G/T missense_variant False BUD23@p.E254Q 1 0.302325581 ENSG00000071462 chr7:73697663-73697663;G/C missense_variant False BUD23@p.E45G 1 0.441964286 ENSG00000071462 chr7:73686683-73686683;A/G missense_variant False BUD23@p.G263S 1 0.303571429 ENSG00000071462 chr7:73697690-73697690;G/A missense_variant False BUD23@p.N167H 1 0.5 ENSG00000071462 chr7:73692635-73692635;A/C missense_variant False BUD23@p.R94Q 1 0.178571429 ENSG00000071462 chr7:73687014-73687014;G/A missense_variant False BUD31@p.F50L 1 0.28440367 ENSG00000106245 chr7:99416193-99416193;C/G missense_variant False BUD31@p.Q55H 1 0.150943396 ENSG00000106245 chr7:99416208-99416208;G/C missense_variant False BUB1@p.M953I 1 0.283333333 ENSG00000169679 chr2:110641130-110641130;C/T missense_variant False BUB1@p.H1043Q 1 0.086956522 ENSG00000169679 chr2:110638093-110638093;A/T missense_variant False BTN2A2@p.Y469H 1 0.112149533 ENSG00000124508 chr6:26392800-26392800;T/C missense_variant False BTN3A3@p.L554V 1 0.25 ENSG00000111801 chr6:26452316-26452316;C/G missense_variant False BTNL3@p.A50T 1 0.083333333 ENSG00000168903 chr5:180992911-180992911;G/A missense_variant False BTNL2@p.P116L 1 0.163179916 ENSG00000204290 chr6:32405019-32405019;G/A missense_variant False BTN3A3@p.W332C 1 0.080882353 ENSG00000111801 chr6:26450111-26450111;G/T missense_variant False BTN3A3@p.S32C 1 0.189873418 ENSG00000111801 chr6:26443966-26443966;C/G missense_variant False BTN3A3@p.S219F 1 0.381578947 ENSG00000111801 chr6:26445926-26445926;C/T missense_variant False BTN3A3@p.M290I 1 0.388888889 ENSG00000111801 chr6:26448402-26448402;G/A missense_variant False BTN3A3@p.F19L 1 0.068493151 ENSG00000111801 chr6:26443629-26443629;T/C missense_variant False BUB1@p.G195A 1 0.145833333 ENSG00000169679 chr2:110667833-110667833;C/G missense_variant False BTN3A3@p.F133L 1 0.264150943 ENSG00000111801 chr6:26444270-26444270;C/G missense_variant False BTN3A3@p.E468Q 1 0.042857143 ENSG00000111801 chr6:26452058-26452058;G/C missense_variant False BTN3A2@p.S148C 1 0.1875 ENSG00000186470 chr6:26370331-26370331;C/G missense_variant False BTN3A1@p.Q178K 1 0.169590643 ENSG00000026950 chr6:26407769-26407769;C/A missense_variant False BTN3A1@p.I222M 1 0.93728223 ENSG00000026950 chr6:26407903-26407903;C/G missense_variant False BTN3A1@p.D81H 1 0.338461538 ENSG00000026950 chr6:26406064-26406064;G/C missense_variant False BTNL8@p.E485K 1 0.136363636 ENSG00000113303 chr5:180950494-180950494;G/A missense_variant False BTNL8@p.I193S 1 0.46835443 ENSG00000113303 chr5:180911519-180911519;T/G missense_variant False BTNL8@p.L213R 1 0.177777778 ENSG00000113303 chr5:180911579-180911579;T/G missense_variant False BTNL8@p.L99V 1 0.058823529 ENSG00000113303 chr5:180908831-180908831;C/G missense_variant False BTNL8@p.R364S 1 0.11827957 ENSG00000113303 chr5:180950133-180950133;G/C missense_variant False BTNL8@p.R394H 1 0.307692308 ENSG00000113303 chr5:180950222-180950222;G/A missense_variant False BTNL9@p.A434V 1 0.470588235 ENSG00000165810 chr5:181059555-181059555;C/T missense_variant False BTNL9@p.D467N 1 0.517241379 ENSG00000165810 chr5:181059653-181059653;G/A missense_variant False BTNL9@p.F140L 1 0.481012658 ENSG00000165810 chr5:181048237-181048237;C/A missense_variant False BTNL9@p.H121Y 1 0.12195122 ENSG00000165810 chr5:181048178-181048178;C/T missense_variant False BTRC@p.C547Sfs*17 1 0.305343511 ENSG00000166167 chr10:101538351-101538352;CT/- frameshift_variant False BTRC@p.D575N 1 0.114942529 ENSG00000166167 chr10:101550765-101550765;G/A missense_variant False BTRC@p.R38Q 1 0.309090909 ENSG00000166167 chr10:101430409-101430409;G/A missense_variant False BUB1@p.D910Y 1 0.430555556 ENSG00000169679 chr2:110641362-110641362;C/A missense_variant False BUB1@p.E149K 1 0.273291925 ENSG00000169679 chr2:110670546-110670546;C/T missense_variant False BUB1@p.E568K 1 0.142857143 ENSG00000169679 chr2:110655913-110655913;C/T missense_variant False BUB1@p.E766Q 1 0.063492063 ENSG00000169679 chr2:110649285-110649285;C/G missense_variant False C16orf70@p.Q62E 1 0.101351351 chr16:67125995-67125995;C/G missense_variant False C16orf71@p.E409Q 1 0.5 chr16:4746970-4746970;G/C missense_variant False BTAF1@p.T954A 1 0.29787234 ENSG00000095564 chr10:91992124-91992124;A/G missense_variant False C21orf91@p.E38Q 1 0.16 chr21:17818207-17818207;C/G missense_variant False C2@p.D710N 1 0.223684211 ENSG00000166278 chr6:31945226-31945226;G/A missense_variant False C22orf42@p.P22L 1 0.222222222 chr22:32159151-32159151;G/A missense_variant False C22orf42@p.E34K 1 0.078947368 chr22:32159116-32159116;C/T missense_variant False C22orf31@p.P93L 1 0.287037037 chr22:29060569-29060569;G/A missense_variant False C22orf23@p.E138K 1 0.475609756 chr22:37945111-37945111;C/T missense_variant False C21orf91@p.F32L 1 0.170731707 chr21:17818223-17818223;G/C missense_variant False C21orf62@p.N176del 1 0.319148936 chr21:32793893-32793895;TGT/- inframe_deletion False C2CD2@p.E313K 1 0.135135135 ENSG00000157617 chr21:41912348-41912348;C/T missense_variant False C21orf62@p.L9V 1 0.150684932 chr21:32794397-32794397;G/C missense_variant False C21orf58@p.R5W 1 0.545454545 chr21:46322726-46322726;G/A missense_variant False C21orf58@p.K264T 1 0.409090909 chr21:46302507-46302507;T/G missense_variant False C21orf58@p.E54K 1 0.170212766 chr21:46318161-46318161;C/T missense_variant False C20orf85@p.Q39H 1 0.228346457 chr20:58153592-58153592;G/C missense_variant False C20orf27@p.K105N 1 0.136363636 chr20:3754506-3754506;C/A missense_variant False C2CD2@p.D528N 1 0.388888889 ENSG00000157617 chr21:41899341-41899341;C/T missense_variant False C2CD2@p.E453K 1 0.391304348 ENSG00000157617 chr21:41905799-41905799;C/T missense_variant False C16orf71@p.R121K 1 0.421568627 chr16:4740238-4740238;G/A missense_variant False C2CD2L@p.R284T 1 0.356725146 ENSG00000172375 chr11:119111315-119111315;G/C missense_variant False C2CD3@p.E1583Q 1 0.239130435 ENSG00000168014 chr11:74074457-74074457;C/G missense_variant False C2CD3@p.E1279K 1 0.307692308 ENSG00000168014 chr11:74085693-74085693;C/T missense_variant False C2CD3@p.E1162Q 1 0.183486239 ENSG00000168014 chr11:74092449-74092449;C/G missense_variant False C2CD3@p.E1026K 1 0.193333333 ENSG00000168014 chr11:74095312-74095312;C/T missense_variant False C2CD3@p.C1207S 1 0.142241379 ENSG00000168014 chr11:74090834-74090834;C/G missense_variant False C2CD2L@p.Y407C 1 0.538461538 ENSG00000172375 chr11:119112707-119112707;A/G missense_variant False C2CD2L@p.Q547E 1 0.46969697 ENSG00000172375 chr11:119114092-119114092;C/G missense_variant False C2CD2@p.K353N 1 0.142857143 ENSG00000157617 chr21:41907744-41907744;C/G missense_variant False C2CD2L@p.L235F 1 0.078175896 ENSG00000172375 chr11:119111073-119111073;C/T missense_variant False C2CD2L@p.D567N 1 0.213675214 ENSG00000172375 chr11:119114152-119114152;G/A missense_variant False C2CD2@p.T421A 1 0.327272727 ENSG00000157617 chr21:41907049-41907049;T/C missense_variant False C2CD2@p.R508W 1 0.289156627 ENSG00000157617 chr21:41901660-41901660;G/A missense_variant False C2CD2@p.M646I 1 0.222222222 ENSG00000157617 chr21:41889277-41889277;C/G missense_variant False C2CD2@p.K621Q 1 0.208333333 ENSG00000157617 chr21:41899062-41899062;T/G missense_variant False C20orf27@p.E65D 1 0.453488372 chr20:3755575-3755575;C/A missense_variant False C20orf194@p.Y344H 1 0.302325581 chr20:3332313-3332313;A/G missense_variant False C20orf194@p.T200Yfs*5 1 0.236363636 chr20:3374062-3374063;-/A frameshift_variant False C1orf52@p.D123H 1 0.342465753 chr1:85258632-85258632;C/G missense_variant False C1orf56@p.E84K 1 0.104347826 chr1:151048097-151048097;G/A missense_variant False C1orf54@p.Q32E 1 0.180124224 chr1:150274134-150274134;C/G missense_variant False C1orf54@p.E58Q 1 0.089285714 chr1:150275782-150275782;G/C missense_variant False C1orf54@p.D28E 1 0.089709763 chr1:150274124-150274124;T/A missense_variant False C1orf52@p.E30K 1 0.545454545 chr1:85259546-85259546;C/T missense_variant False C1orf52@p.E133K 1 0.422619048 chr1:85258602-85258602;C/T missense_variant False C1orf43@p.R43P 1 0.205128205 chr1:154219876-154219876;C/G missense_variant False C20orf194@p.S998Y 1 0.333333333 chr20:3259542-3259542;G/T missense_variant False C1orf43@p.R193Q 1 0.260416667 chr1:154207637-154207637;C/T missense_variant False C1orf43@p.G167E 1 0.212903226 chr1:154212465-154212465;C/T missense_variant False C1orf35@p.R135P 1 0.2 chr1:228102353-228102353;C/G missense_variant False C1orf35@p.G260V 1 0.410714286 chr1:228101144-228101144;C/A missense_variant False C1orf35@p.E262K 1 0.275449102 chr1:228101139-228101139;C/T missense_variant False C1orf21@p.I107M 1 0.375 chr1:184598455-184598455;T/G missense_variant False C1orf56@p.S135F 1 0.536231884 chr1:151048251-151048251;C/T missense_variant False C1orf74@p.E98G 1 0.101694915 chr1:209783342-209783342;T/C missense_variant False C1orf87@p.D206Y 1 0.230769231 chr1:60040048-60040048;C/A missense_variant False C1orf87@p.K243N 1 0.142857143 chr1:60039935-60039935;C/A missense_variant False C1orf87@p.Q519E 1 0.222996516 chr1:59990759-59990759;G/C missense_variant False C1orf94@p.D231N 1 0.285714286 chr1:34197595-34197595;G/A missense_variant False C1orf94@p.L379Q 1 0.224489796 chr1:34200898-34200898;T/A missense_variant False C1orf94@p.P301S 1 0.292307692 chr1:34197805-34197805;C/T missense_variant False C1orf94@p.Q310H 1 0.109090909 chr1:34197834-34197834;G/C missense_variant False C20orf194@p.E84Q 1 0.172043011 chr20:3381412-3381412;C/G missense_variant False C20orf194@p.I999M 1 0.081081081 chr20:3259538-3259538;G/C missense_variant False C20orf194@p.L770V 1 0.121693122 chr20:3290148-3290148;G/C missense_variant False C20orf194@p.L921V 1 0.251497006 chr20:3270452-3270452;G/C missense_variant False C20orf194@p.S275C 1 0.156716418 chr20:3343697-3343697;G/C missense_variant False C20orf194@p.S275F 1 0.219858156 chr20:3343697-3343697;G/A missense_variant False C20orf194@p.S511F 1 0.5 chr20:3316730-3316730;G/A missense_variant False C20orf194@p.S967L 1 0.23255814 chr20:3260002-3260002;G/A missense_variant False C2CD3@p.E520K 1 0.188679245 ENSG00000168014 chr11:74114556-74114556;C/T missense_variant False C2CD3@p.G687V 1 0.258741259 ENSG00000168014 chr11:74106396-74106396;C/A missense_variant False C2CD3@p.H350Y 1 0.371428571 ENSG00000168014 chr11:74133465-74133465;G/A missense_variant False C2orf68@p.D128N 1 0.28358209 chr2:85609064-85609064;C/T missense_variant False C2orf80@p.S118F 1 0.282051282 chr2:208180758-208180758;G/A missense_variant False C2orf78@p.S265C 1 0.264705882 chr2:73814173-73814173;C/G missense_variant False C2orf78@p.K608N 1 0.333333333 chr2:73816047-73816047;G/C missense_variant False C2orf78@p.E878K 1 0.472222222 chr2:73816855-73816855;G/A missense_variant False C2orf76@p.H68Y 1 0.3 chr2:119317486-119317486;G/A missense_variant False C2orf69@p.S224C 1 0.376068376 chr2:199925399-199925399;C/G missense_variant False C2orf49@p.S184L 1 0.344827586 chr2:105343132-105343132;C/T missense_variant False C2orf16@p.R1708K 1 0.194736842 chr2:27581695-27581695;G/A missense_variant False C2orf49@p.R8H 1 0.311111111 chr2:105337610-105337610;G/A missense_variant False C2orf42@p.K9E 1 0.225806452 chr2:70181961-70181961;T/C missense_variant False C2orf42@p.G428A 1 0.46969697 chr2:70165162-70165162;C/G missense_variant False C2orf16@p.T451R 1 0.389830508 chr2:27577924-27577924;C/G missense_variant False C2orf16@p.S668F 1 0.397905759 chr2:27578575-27578575;C/T missense_variant False C2orf16@p.S488F 1 0.540816327 chr2:27578035-27578035;C/T missense_variant False C2orf80@p.Y110C 1 0.375 chr2:208180782-208180782;T/C missense_variant False C2orf88@p.M4I 1 0.369863014 chr2:190199872-190199872;G/A missense_variant False C3@p.D1121Y 1 0.25974026 ENSG00000125730 chr19:6692953-6692953;C/A missense_variant False C3@p.D681H 1 0.056818182 ENSG00000125730 chr19:6707472-6707472;C/G missense_variant False C3@p.E1328K 1 0.133333333 ENSG00000125730 chr19:6684822-6684822;C/T missense_variant False C3@p.I138M 1 0.4 ENSG00000125730 chr19:6718266-6718266;G/C missense_variant False C3@p.K879N 1 0.16 ENSG00000125730 chr19:6697503-6697503;C/G missense_variant False C3@p.L1088V 1 0.122222222 ENSG00000125730 chr19:6693052-6693052;G/C missense_variant False C3@p.M1384I 1 0.177631579 ENSG00000125730 chr19:6684408-6684408;C/T missense_variant False C3@p.P963Q 1 0.614035088 ENSG00000125730 chr19:6696441-6696441;G/T missense_variant False C3@p.R1219H 1 0.483146067 ENSG00000125730 chr19:6686278-6686278;C/T missense_variant False C3@p.R1512H 1 0.322834646 ENSG00000125730 chr19:6679418-6679418;C/T missense_variant False C3@p.R1591K 1 0.340425532 ENSG00000125730 chr19:6678230-6678230;C/T missense_variant False C3@p.R508P 1 0.101010101 ENSG00000125730 chr19:6710802-6710802;C/G missense_variant False C3@p.S1454C 1 0.448717949 ENSG00000125730 chr19:6680253-6680253;G/C missense_variant False C3@p.V199I 1 0.242424242 ENSG00000125730 chr19:6714356-6714356;C/T missense_variant False C3AR1@p.L320S 1 0.571428571 ENSG00000171860 chr12:8059227-8059227;A/G missense_variant False C2orf16@p.S1061C 1 0.111111111 chr2:27579754-27579754;C/G missense_variant False C2orf16@p.R1639C 1 0.138964578 chr2:27581487-27581487;C/T missense_variant False C2CD3@p.I710M 1 0.355263158 ENSG00000168014 chr11:74103581-74103581;G/C missense_variant False C2CD5@p.G359R 1 0.2 ENSG00000111731 chr12:22506783-22506783;C/T missense_variant False C2orf16@p.C1400Y 1 0.212121212 chr2:27580771-27580771;G/A missense_variant False C2orf15@p.E30K 1 0.451612903 chr2:99150646-99150646;G/A missense_variant False C2CD6@p.Q320E 1 0.2 ENSG00000155754 chr2:201565748-201565748;G/C missense_variant False C2CD5@p.Y469F 1 0.483333333 ENSG00000111731 chr12:22484841-22484841;T/A missense_variant False C2CD5@p.S140L 1 0.333333333 ENSG00000111731 chr12:22525636-22525636;G/A missense_variant False C2CD5@p.R192K 1 0.481481481 ENSG00000111731 chr12:22524498-22524498;C/T missense_variant False C2CD5@p.D686N 1 0.1 ENSG00000111731 chr12:22472795-22472795;C/T missense_variant False C2orf16@p.R1564T 1 0.097560976 chr2:27581263-27581263;G/C missense_variant False C2CD4B@p.S325L 1 0.318181818 ENSG00000205502 chr15:62164011-62164011;G/A missense_variant False C2CD3@p.Y646D 1 0.4 ENSG00000168014 chr11:74109060-74109060;A/C missense_variant False C2CD3@p.W637C 1 0.272727273 ENSG00000168014 chr11:74109085-74109085;C/A missense_variant False C2CD3@p.V811M 1 0.161073826 ENSG00000168014 chr11:74103280-74103280;C/T missense_variant False C2CD3@p.T1022K 1 0.105882353 ENSG00000168014 chr11:74095323-74095323;G/T missense_variant False C2CD3@p.L1930F 1 0.16 ENSG00000168014 chr11:74037571-74037571;G/A missense_variant False C2orf16@p.D1408G 1 0.195945946 chr2:27580795-27580795;A/G missense_variant False C2orf16@p.E282K 1 0.317647059 chr2:27577416-27577416;G/A missense_variant False C2orf16@p.E439Q 1 0.215277778 chr2:27577887-27577887;G/C missense_variant False C2orf16@p.F290L 1 0.54 chr2:27577442-27577442;C/A missense_variant False C2orf16@p.H1735Y 1 0.151162791 chr2:27581775-27581775;C/T missense_variant False C2orf16@p.H1831Lfs*62 1 0.148148148 chr2:27582059-27582060;-/TC frameshift_variant False C2orf16@p.I1516M 1 0.125 chr2:27581120-27581120;C/G missense_variant False C2orf16@p.L17F 1 0.265306122 chr2:27576623-27576623;G/C missense_variant False C2orf16@p.L889V 1 0.257425743 chr2:27579237-27579237;C/G missense_variant False C2orf16@p.M1915I 1 0.178807947 chr2:27582317-27582317;G/A missense_variant False C2orf16@p.P1697T 1 0.180257511 chr2:27581661-27581661;C/A missense_variant False C2orf16@p.P1972S 1 0.101449275 chr2:27582486-27582486;C/T missense_variant False C2orf16@p.P400L 1 0.239130435 chr2:27577771-27577771;C/T missense_variant False C2orf16@p.P651R 1 0.203539823 chr2:27578524-27578524;C/G missense_variant False C2orf16@p.P69T 1 0.232142857 chr2:27576777-27576777;C/A missense_variant False C2orf16@p.Q710H 1 0.314285714 chr2:27578702-27578702;G/C missense_variant False C2orf16@p.R1126Q 1 0.322033898 chr2:27579949-27579949;G/A missense_variant False C1orf21@p.E41Q 1 0.462962963 chr1:184507614-184507614;G/C missense_variant False C1orf216@p.S66F 1 0.318181818 chr1:35716125-35716125;G/A missense_variant False C1orf198@p.R199Q 1 0.174757282 chr1:230843685-230843685;C/T missense_variant False C19orf73@p.S72F 1 0.542857143 chr19:49118808-49118808;G/A missense_variant False C1GALT1C1@p.L63I 1 0.395833333 ENSG00000171155 chrX:120626980-120626980;G/T missense_variant False C1GALT1C1@p.D162N 1 0.371794872 ENSG00000171155 chrX:120626683-120626683;C/T missense_variant False C1GALT1@p.R140T 1 0.268292683 ENSG00000106392 chr7:7238453-7238453;G/C missense_variant False C1GALT1@p.P298T 1 0.11299435 ENSG00000106392 chr7:7243527-7243527;C/A missense_variant False C1GALT1@p.P298H 1 0.114942529 ENSG00000106392 chr7:7243528-7243528;C/A missense_variant False C1D@p.S65T 1 0.325 ENSG00000197223 chr2:68046356-68046356;A/T missense_variant False C19orf73@p.R116T 1 0.592105263 chr19:49118676-49118676;C/G missense_variant False C19orf47@p.T93A 1 0.316666667 chr19:40336166-40336166;T/C missense_variant False C19orf57@p.S480F 1 0.088235294 chr19:13889417-13889417;G/A missense_variant False C19orf57@p.Q313H 1 0.432432432 chr19:13889917-13889917;C/G missense_variant False C19orf54@p.R319W 1 0.461538462 chr19:40742534-40742534;G/A missense_variant False C19orf54@p.L143F 1 0.485714286 chr19:40744649-40744649;G/A missense_variant False C19orf53@p.V65M 1 0.492537313 chr19:13778091-13778091;G/A missense_variant False C19orf53@p.M67I 1 0.33557047 chr19:13778099-13778099;G/A missense_variant False C1GALT1C1@p.M289I 1 0.52 ENSG00000171155 chrX:120626300-120626300;C/G missense_variant False C1GALT1C1L@p.L199V 1 0.085714286 ENSG00000223658 chr2:43675728-43675728;G/C missense_variant False C1GALT1C1L@p.R197K 1 0.188976378 ENSG00000223658 chr2:43675733-43675733;C/T missense_variant False C1QA@p.E218K 1 0.428571429 ENSG00000173372 chr1:22639321-22639321;G/A missense_variant False C1QA@p.G127A 1 0.333333333 ENSG00000173372 chr1:22639049-22639049;G/C missense_variant False C1QBP@p.Q212E 1 0.256281407 ENSG00000108561 chr17:5433358-5433358;G/C missense_variant False C1QL1@p.D258Y 1 0.235294118 ENSG00000131094 chr17:44960193-44960193;C/A missense_variant False C1QL3@p.E141K 1 0.178571429 ENSG00000165985 chr10:16520645-16520645;C/T missense_variant False C1QL4@p.D190H 1 0.315789474 ENSG00000186897 chr12:49333203-49333203;C/G missense_variant False C1QTNF12@p.E253Q 1 0.117647059 ENSG00000184163 chr1:1242888-1242888;C/G missense_variant False C1QTNF12@p.G65E 1 0.152 ENSG00000184163 chr1:1244481-1244481;C/T missense_variant False C1QTNF1@p.G129E 1 0.714285714 ENSG00000173918 chr17:79047628-79047628;G/A missense_variant False C1QTNF1@p.L97F 1 0.163265306 ENSG00000173918 chr17:79046690-79046690;G/C missense_variant False C1QTNF1@p.P137H 1 0.426229508 ENSG00000173918 chr17:79047652-79047652;C/A missense_variant False C1QTNF1@p.R228H 1 0.402439024 ENSG00000173918 chr17:79047925-79047925;G/A missense_variant False C1QTNF1@p.V189A 1 0.198347107 ENSG00000173918 chr17:79047808-79047808;T/C missense_variant False C1QTNF2@p.G175Afs*27 1 0.373271889 ENSG00000145861 chr5:160349637-160349637;C/- frameshift_variant False C19orf53@p.K17N 1 0.166666667 chr19:13774528-13774528;G/C missense_variant False C19orf44@p.T147P 1 0.208333333 chr19:16501231-16501231;A/C missense_variant False C1QTNF3@p.L241Pfs*4 1 0.109489051 ENSG00000082196 chr5:34020602-34020603;-/G frameshift_variant False C16orf86@p.R191W 1 0.45 chr16:67668217-67668217;C/T missense_variant False C16orf92@p.P72L 1 0.307692308 chr16:30023811-30023811;C/T missense_variant False C16orf90@p.D151H 1 0.4 chr16:3493964-3493964;C/G missense_variant False C16orf89@p.T147M 1 0.166666667 chr16:5060355-5060355;G/A missense_variant False C16orf89@p.R66Q 1 0.1 chr16:5065712-5065712;C/T missense_variant False C16orf87@p.S129C 1 0.414634146 chr16:46803031-46803031;G/C missense_variant False C16orf87@p.R145I 1 0.479166667 chr16:46802983-46802983;C/A missense_variant False C16orf86@p.K151E 1 0.365591398 chr16:67667996-67667996;A/G missense_variant False C19orf44@p.S118C 1 0.294871795 chr19:16501145-16501145;C/G missense_variant False C16orf86@p.E273K 1 0.230769231 chr16:67668463-67668463;G/A missense_variant False C16orf78@p.S29Y 1 0.537878788 chr16:49374025-49374025;C/A missense_variant False C16orf78@p.M238I 1 0.196969697 chr16:49399194-49399194;G/C missense_variant False C16orf78@p.M160I 1 0.711538462 chr16:49396508-49396508;G/A missense_variant False C16orf78@p.D235N 1 0.180451128 chr16:49399183-49399183;G/A missense_variant False C16orf72@p.G198D 1 0.810858144 chr16:9116677-9116677;G/A missense_variant False C17orf64@p.R128C 1 0.214285714 chr17:60426770-60426770;C/T missense_variant False C17orf75@p.M388I 1 0.097560976 chr17:32331790-32331790;C/T missense_variant False C17orf75@p.V202I 1 0.258741259 chr17:32335388-32335388;C/T missense_variant False C17orf80@p.R250K 1 0.144444444 chr17:73236231-73236231;G/A missense_variant False C17orf80@p.S231F 1 0.32 chr17:73236174-73236174;C/T missense_variant False C17orf80@p.S434L 1 0.381578947 chr17:73236783-73236783;C/T missense_variant False C18orf21@p.E8Q 1 0.2 chr18:35972750-35972750;G/C missense_variant False C18orf25@p.S355P 1 0.440677966 chr18:46262966-46262966;T/C missense_variant False C18orf32@p.D76N 1 0.289855072 chr18:49482350-49482350;C/T missense_variant False C18orf32@p.L27V 1 0.235294118 chr18:49483670-49483670;G/C missense_variant False C18orf32@p.R34H 1 0.583333333 chr18:49483648-49483648;C/T missense_variant False C18orf54@p.I191V 1 0.296296296 chr18:54361930-54361930;A/G missense_variant False C19orf12@p.M12V 1 0.426470588 chr19:29708413-29708413;T/C missense_variant False C19orf12@p.P60L 1 0.1875 chr19:29708268-29708268;G/A missense_variant False C19orf18@p.R132T 1 0.549295775 chr19:57961528-57961528;C/G missense_variant False C19orf44@p.L221F 1 0.186440678 chr19:16501455-16501455;G/T missense_variant False C19orf44@p.L326V 1 0.2875 chr19:16503281-16503281;T/G missense_variant False C1QTNF2@p.L4R 1 0.275862069 ENSG00000145861 chr5:160370627-160370627;A/C missense_variant False C1QTNF3@p.S168G 1 0.272727273 ENSG00000082196 chr5:34023988-34023988;T/C missense_variant False C1orf198@p.P56T 1 0.367088608 chr1:230868347-230868347;G/T missense_variant False C1orf127@p.P523L 1 0.205128205 chr1:10948567-10948567;G/A missense_variant False C1orf141@p.D294H 1 0.217391304 chr1:67093328-67093328;C/G missense_variant False C1orf141@p.D279Y 1 0.402298851 chr1:67093373-67093373;C/A missense_variant False C1orf131@p.S119Y 1 0.344262295 chr1:231238951-231238951;G/T missense_variant False C1orf131@p.I259V 1 0.274509804 chr1:231224386-231224386;T/C missense_variant False C1orf127@p.R634G 1 0.21 chr1:10948235-10948235;T/C missense_variant False C1orf127@p.R608H 1 0.442857143 chr1:10948312-10948312;C/T missense_variant False C1orf116@p.S560T 1 0.533333333 chr1:207022086-207022086;A/T missense_variant False C1orf116@p.E113Q 1 0.113636364 chr1:207023427-207023427;C/G missense_variant False C1orf116@p.S560Efs*3 1 0.181818182 chr1:207022074-207022087;GTCCTTGGTAGGAC/- frameshift_variant False C1orf116@p.S526F 1 0.411764706 chr1:207022187-207022187;G/A missense_variant False C1orf116@p.P457A 1 0.226415094 chr1:207022395-207022395;G/C missense_variant False C1orf116@p.M25I 1 0.095238095 chr1:207027524-207027524;C/A missense_variant False C1orf116@p.K308N 1 0.157894737 chr1:207022840-207022840;C/G missense_variant False C1orf116@p.E46K 1 0.424657534 chr1:207025034-207025034;C/T missense_variant False C1orf141@p.E248D 1 0.12195122 chr1:67093464-67093464;T/A missense_variant False C1orf141@p.E7Q 1 0.228070175 chr1:67127222-67127222;C/G missense_variant False C1orf141@p.H200Y 1 0.333333333 chr1:67095240-67095240;G/A missense_variant False C1orf141@p.Q304H 1 0.071428571 chr1:67093296-67093296;C/G missense_variant False C1orf141@p.S114L 1 0.473684211 chr1:67115357-67115357;G/A missense_variant False C1orf146@p.E64K 1 0.113207547 chr1:92244246-92244246;G/A missense_variant False C1orf146@p.R117G 1 0.402173913 chr1:92244798-92244798;C/G missense_variant False C1orf158@p.I95M 1 0.231075697 chr1:12759369-12759369;C/G missense_variant False C1orf158@p.P109S 1 0.087962963 chr1:12759409-12759409;C/T missense_variant False C1orf159@p.R136W 1 0.379310345 chr1:1087151-1087151;G/A missense_variant False C1orf159@p.R257Q 1 0.195876289 chr1:1084193-1084193;C/T missense_variant False C1orf162@p.E129Q 1 0.040816327 chr1:111478040-111478040;G/C missense_variant False C1orf174@p.E203Q 1 0.315068493 chr1:3890580-3890580;C/G missense_variant False C1orf189@p.G40S 1 0.034111311 chr1:154200545-154200545;C/T missense_variant False C1orf194@p.T103N 1 0.113636364 chr1:109107013-109107013;G/T missense_variant False C1orf198@p.E142K 1 0.169014085 chr1:230843857-230843857;C/T missense_variant False C1orf198@p.L22V 1 0.375 chr1:230868449-230868449;G/C missense_variant False C1orf116@p.E169K 1 0.419354839 chr1:207023259-207023259;C/T missense_variant False C1orf116@p.D66N 1 0.462897527 chr1:207024974-207024974;C/T missense_variant False C1QTNF4@p.G58R 1 0.477272727 ENSG00000172247 chr11:47590639-47590639;C/T missense_variant False C1QTNF7@p.V3L 1 0.048780488 ENSG00000163145 chr4:15435750-15435750;G/C missense_variant False C1QTNF9@p.S288C 1 0.266666667 ENSG00000240654 chr13:24321629-24321629;C/G missense_variant False C1QTNF9@p.M109I 1 0.5 ENSG00000240654 chr13:24321093-24321093;G/T missense_variant False C1QTNF9@p.G176E 1 0.230769231 ENSG00000240654 chr13:24321293-24321293;G/A missense_variant False C1QTNF9@p.F258L 1 0.430379747 ENSG00000240654 chr13:24321540-24321540;C/A missense_variant False C1QTNF9@p.E11K 1 0.10483871 ENSG00000240654 chr13:24316034-24316034;G/A missense_variant False C1QTNF9@p.D218Ifs*54 1 0.24 ENSG00000240654 chr13:24321417-24321417;A/- frameshift_variant False C1QTNF7@p.S232L 1 0.3875 ENSG00000163145 chr4:15442624-15442624;C/T missense_variant False C1orf115@p.V137M 1 0.187134503 chr1:220696711-220696711;G/A missense_variant False C1QTNF7@p.R82T 1 0.154761905 ENSG00000163145 chr4:15442174-15442174;G/C missense_variant False C1QTNF7@p.E109Q 1 0.118811881 ENSG00000163145 chr4:15442254-15442254;G/C missense_variant False C1QTNF7@p.D198H 1 0.21978022 ENSG00000163145 chr4:15442521-15442521;G/C missense_variant False C1QTNF5@p.S190L 1 0.697674419 ENSG00000223953 chr11:119339494-119339494;G/A missense_variant False C1QTNF5@p.S177C 1 0.327586207 ENSG00000223953 chr11:119339533-119339533;G/C missense_variant False C1QTNF5@p.D126N 1 0.722222222 ENSG00000223953 chr11:119339687-119339687;C/T missense_variant False C1QTNF9B@p.F258L 1 0.106951872 ENSG00000205863 chr13:23891517-23891517;G/T missense_variant False C1QTNF9B@p.G176E 1 0.284210526 ENSG00000205863 chr13:23891764-23891764;C/T missense_variant False C1RL@p.E179K 1 0.263157895 ENSG00000139178 chr12:7099982-7099982;C/T missense_variant False C1RL@p.E413K 1 0.313084112 ENSG00000139178 chr12:7096618-7096618;C/T missense_variant False C1S@p.G620E 1 0.388888889 ENSG00000182326 chr12:7070443-7070443;G/A missense_variant False C1S@p.G630A 1 0.068965517 ENSG00000182326 chr12:7070473-7070473;G/C missense_variant False C1S@p.P160Rfs*9 1 0.148760331 ENSG00000182326 chr12:7064349-7064349;C/- frameshift_variant False C1S@p.P551Q 1 0.103448276 ENSG00000182326 chr12:7070236-7070236;C/A missense_variant False C1S@p.R581C 1 0.361111111 ENSG00000182326 chr12:7070325-7070325;C/T missense_variant False C1S@p.R667W 1 0.048780488 ENSG00000182326 chr12:7070583-7070583;C/T missense_variant False C1S@p.R686H 1 0.390070922 ENSG00000182326 chr12:7070641-7070641;G/A missense_variant False C1orf105@p.E108Q 1 0.195652174 chr1:172462226-172462226;G/C missense_variant False C1orf109@p.L189V 1 0.206521739 chr1:37683328-37683328;G/C missense_variant False C1orf112@p.D671E 1 0.179487179 chr1:169847758-169847758;T/A missense_variant False C1orf112@p.L279F 1 0.171779141 chr1:169823459-169823459;C/T missense_variant False C1orf112@p.M157I 1 0.376344086 chr1:169804233-169804233;G/A missense_variant False C1orf112@p.S163C 1 0.285714286 chr1:169806013-169806013;C/G missense_variant False BTAF1@p.W477C 1 0.425531915 ENSG00000095564 chr10:91964103-91964103;G/C missense_variant False BTAF1@p.S1617L 1 0.147826087 ENSG00000095564 chr10:92018922-92018922;C/T missense_variant False C3AR1@p.S181L 1 0.282258065 ENSG00000171860 chr12:8059644-8059644;G/A missense_variant False BOD1L1@p.S1873N 1 0.225806452 ENSG00000038219 chr4:13601282-13601282;C/T missense_variant False BOLL@p.Y218N 1 0.225 ENSG00000152430 chr2:197756505-197756505;A/T missense_variant False BOLL@p.A224V 1 0.6 ENSG00000152430 chr2:197756486-197756486;G/A missense_variant False BOLA3@p.R35T 1 0.306818182 ENSG00000163170 chr2:74145254-74145254;C/G missense_variant False BOLA3@p.E68Q 1 0.344262295 ENSG00000163170 chr2:74142328-74142328;C/G missense_variant False BOLA3@p.E42Q 1 0.105263158 ENSG00000163170 chr2:74145234-74145234;C/G missense_variant False BOLA1@p.E47K 1 0.090909091 ENSG00000178096 chr1:149900198-149900198;G/A missense_variant False BOD1L1@p.R898Q 1 0.117647059 ENSG00000038219 chr4:13604207-13604207;C/T missense_variant False BOP1@p.E252K 1 0.28125 ENSG00000261236 chr8:144264526-144264526;C/T missense_variant False BOD1L1@p.M2305T 1 0.461538462 ENSG00000038219 chr4:13599986-13599986;A/G missense_variant False BOD1L1@p.L1843I 1 0.454545455 ENSG00000038219 chr4:13601373-13601373;A/T missense_variant False BOD1L1@p.L1256F 1 0.090909091 ENSG00000038219 chr4:13603132-13603132;C/G missense_variant False BOD1L1@p.K2415R 1 0.078313253 ENSG00000038219 chr4:13599656-13599656;T/C missense_variant False BOD1L1@p.K1157Lfs*10 1 0.12345679 ENSG00000038219 chr4:13603428-13603431;TTTT/- frameshift_variant False BOD1L1@p.E669K 1 0.146853147 ENSG00000038219 chr4:13604895-13604895;C/T missense_variant False BOP1@p.D78N 1 0.153846154 ENSG00000261236 chr8:144289172-144289172;C/T missense_variant False BOP1@p.E76K 1 0.459459459 ENSG00000261236 chr8:144289178-144289178;C/T missense_variant False BRAP@p.R9P 1 0.416666667 ENSG00000089234 chr12:111685767-111685767;C/G missense_variant False BORCS5@p.V89L 1 0.425531915 ENSG00000165714 chr12:12435690-12435690;G/T missense_variant False BPIFA2@p.F223L 1 0.289962825 ENSG00000131050 chr20:33179627-33179627;C/A missense_variant False BPIFA1@p.Q251H 1 0.370786517 ENSG00000198183 chr20:33242509-33242509;G/C missense_variant False BPIFA1@p.G249R 1 0.225806452 ENSG00000198183 chr20:33242501-33242501;G/C missense_variant False BPGM@p.N138del 1 0.333333333 ENSG00000172331 chr7:134661917-134661919;ACA/- inframe_deletion False BORCS6@p.R280C 1 0.870967742 ENSG00000196544 chr17:8189303-8189303;G/A missense_variant False BORCS6@p.P232A 1 0.75 ENSG00000196544 chr17:8189447-8189447;G/C missense_variant False BORCS5@p.L70F 1 0.202898551 ENSG00000165714 chr12:12435635-12435635;G/C missense_variant False BOP1@p.F726L 1 0.125 ENSG00000261236 chr8:144262227-144262227;G/C missense_variant False BORCS5@p.D98H 1 0.333333333 ENSG00000165714 chr12:12435717-12435717;G/C missense_variant False BORCS5@p.D52V 1 0.12962963 ENSG00000165714 chr12:12361302-12361302;A/T missense_variant False BORA@p.E490Q 1 0.244897959 ENSG00000136122 chr13:72746872-72746872;G/C missense_variant False BORA@p.D585N 1 0.103448276 ENSG00000136122 chr13:72753735-72753735;G/A missense_variant False BORA@p.D518H 1 0.222222222 ENSG00000136122 chr13:72746956-72746956;G/C missense_variant False BOP1@p.S53C 1 0.626984127 ENSG00000261236 chr8:144289246-144289246;G/C missense_variant False BOD1L1@p.E2600K 1 0.136842105 ENSG00000038219 chr4:13599102-13599102;C/T missense_variant False BOD1L1@p.E2313K 1 0.588235294 ENSG00000038219 chr4:13599963-13599963;C/T missense_variant False BOD1L1@p.E2249Q 1 0.75 ENSG00000038219 chr4:13600155-13600155;C/G missense_variant False BNIP5@p.Q433E 1 0.236051502 ENSG00000189325 chr6:36323467-36323467;G/C missense_variant False BNIPL@p.R225K 1 0.056140351 ENSG00000163141 chr1:151043389-151043389;G/A missense_variant False BNIPL@p.L305V 1 0.441558442 ENSG00000163141 chr1:151045858-151045858;C/G missense_variant False BNIPL@p.D324N 1 0.12195122 ENSG00000163141 chr1:151046098-151046098;G/A missense_variant False BNIPL@p.A330D 1 0.453488372 ENSG00000163141 chr1:151046117-151046117;C/A missense_variant False BNIP5@p.S92L 1 0.218579235 ENSG00000189325 chr6:36330416-36330416;G/A missense_variant False BNIP5@p.Q89H 1 0.220930233 ENSG00000189325 chr6:36330424-36330424;C/G missense_variant False BNIP5@p.P7R 1 0.144230769 ENSG00000189325 chr6:36330671-36330671;G/C missense_variant False BOD1L1@p.E1918Q 1 0.598214286 ENSG00000038219 chr4:13601148-13601148;C/G missense_variant False BNIP5@p.P472_S473delinsQG 1 0.155555556 ENSG00000189325 chr6:36323347-36323349;TGG/CTT missense_variant False BNIP5@p.H69Y 1 0.166666667 ENSG00000189325 chr6:36330486-36330486;G/A missense_variant False BNIP5@p.A587P 1 0.752475248 ENSG00000189325 chr6:36319520-36319520;C/G missense_variant False BNIP3L@p.M169I 1 0.138888889 ENSG00000104765 chr8:26408272-26408272;G/A missense_variant False BNIP3@p.R134C 1 0.239766082 ENSG00000176171 chr10:131973111-131973111;G/A missense_variant False BNIP1@p.R57T 1 0.357142857 ENSG00000113734 chr5:173146951-173146951;G/C missense_variant False BNIPL@p.R283G 1 0.19047619 ENSG00000163141 chr1:151043723-151043723;C/G missense_variant False BOC@p.E808K 1 0.396825397 ENSG00000144857 chr3:113281144-113281144;G/A missense_variant False BOC@p.F130L 1 0.344827586 ENSG00000144857 chr3:113268312-113268312;C/G missense_variant False BOC@p.K199M 1 0.161290323 ENSG00000144857 chr3:113270873-113270873;A/T missense_variant False BOC@p.L684V 1 0.329842932 ENSG00000144857 chr3:113279853-113279853;C/G missense_variant False BOC@p.L826V 1 0.170984456 ENSG00000144857 chr3:113283455-113283455;C/G missense_variant False BOC@p.P948A 1 0.142857143 ENSG00000144857 chr3:113284523-113284523;C/G missense_variant False BOC@p.R368C 1 0.193548387 ENSG00000144857 chr3:113273209-113273209;C/T missense_variant False BOC@p.S942L 1 0.530120482 ENSG00000144857 chr3:113284506-113284506;C/T missense_variant False BOC@p.T1002I 1 0.272727273 ENSG00000144857 chr3:113285413-113285413;C/T missense_variant False BOC@p.V624M 1 0.152542373 ENSG00000144857 chr3:113279305-113279305;G/A missense_variant False BOD1L1@p.D1018H 1 0.360784314 ENSG00000038219 chr4:13603848-13603848;C/G missense_variant False BOD1L1@p.D1783N 1 0.168316832 ENSG00000038219 chr4:13601553-13601553;C/T missense_variant False BOD1L1@p.D2935N 1 0.1 ENSG00000038219 chr4:13577484-13577484;C/T missense_variant False BOD1L1@p.D441Y 1 0.531914894 ENSG00000038219 chr4:13613515-13613515;C/A missense_variant False BOD1L1@p.E1334K 1 0.111111111 ENSG00000038219 chr4:13602900-13602900;C/T missense_variant False BOD1L1@p.E1892K 1 0.275641026 ENSG00000038219 chr4:13601226-13601226;C/T missense_variant False BPIFA3@p.E168Q 1 0.231578947 ENSG00000131059 chr20:33225213-33225213;G/C missense_variant False BPIFA3@p.E231Q 1 0.306451613 ENSG00000131059 chr20:33227543-33227543;G/C missense_variant False BPIFA3@p.L19F 1 0.074766355 ENSG00000131059 chr20:33217593-33217593;G/T missense_variant False BPTF@p.Q2566L 1 0.078651685 ENSG00000171634 chr17:67946027-67946027;A/T missense_variant False BPTF@p.S1611L 1 0.414285714 ENSG00000171634 chr17:67912338-67912338;C/T missense_variant False BPTF@p.S1374F 1 0.376470588 ENSG00000171634 chr17:67911627-67911627;C/T missense_variant False BPTF@p.S1229C 1 0.392857143 ENSG00000171634 chr17:67911192-67911192;C/G missense_variant False BPTF@p.S1229* 1 0.163265306 ENSG00000171634 chr17:67911187-67911188;TC/- frameshift_variant False BPTF@p.S1115L 1 0.23255814 ENSG00000171634 chr17:67909735-67909735;C/T missense_variant False BPTF@p.R1994Q 1 0.157142857 ENSG00000171634 chr17:67922885-67922885;G/A missense_variant False BPTF@p.Q1157K 1 0.115384615 ENSG00000171634 chr17:67910975-67910975;C/A missense_variant False BPTF@p.E2625K 1 0.203883495 ENSG00000171634 chr17:67946203-67946203;G/A missense_variant False BPTF@p.L1274F 1 0.108695652 ENSG00000171634 chr17:67911326-67911326;C/T missense_variant False BPTF@p.I934M 1 0.406015038 ENSG00000171634 chr17:67894046-67894046;C/G missense_variant False BPTF@p.I1208M 1 0.307692308 ENSG00000171634 chr17:67911130-67911130;C/G missense_variant False BPTF@p.H3037D 1 0.275 ENSG00000171634 chr17:67982256-67982256;C/G missense_variant False BPTF@p.H2610Y 1 0.224489796 ENSG00000171634 chr17:67946158-67946158;C/T missense_variant False BPTF@p.G2170E 1 0.14 ENSG00000171634 chr17:67929468-67929468;G/A missense_variant False BPTF@p.S1665L 1 0.253521127 ENSG00000171634 chr17:67912500-67912500;C/T missense_variant False BPTF@p.S702F 1 0.355769231 ENSG00000171634 chr17:67886179-67886179;C/T missense_variant False BPTF@p.T2540S 1 0.213235294 ENSG00000171634 chr17:67945948-67945948;A/T missense_variant False BPTF@p.T583A 1 0.125 ENSG00000171634 chr17:67874903-67874903;A/G missense_variant False BPTF@p.V411I 1 0.2 ENSG00000171634 chr17:67854557-67854557;G/A missense_variant False BRAF@p.D634Y 1 0.387096774 ENSG00000157764 chr7:140753355-140753355;C/A missense_variant True BRAF@p.E491G 1 0.071428571 ENSG00000157764 chr7:140781656-140781656;T/C missense_variant True BRAF@p.E735Q 1 0.329896907 ENSG00000157764 chr7:140739856-140739856;C/G missense_variant True BRAF@p.G509A 1 0.240740741 ENSG00000157764 chr7:140781602-140781602;C/G missense_variant True BRAF@p.Q262E 1 0.386363636 ENSG00000157764 chr7:140801488-140801488;G/C missense_variant True BRAF@p.R615K 1 0.106060606 ENSG00000157764 chr7:140754204-140754204;C/T missense_variant True BRAF@p.S129L 1 0.361111111 ENSG00000157764 chr7:140834727-140834727;G/A missense_variant True BRAF@p.S364L 1 0.098265896 ENSG00000157764 chr7:140794357-140794357;G/A missense_variant True BRAF@p.V640E 1 0.153846154 ENSG00000157764 chr7:140753336-140753336;A/T missense_variant True BRAP@p.A214V 1 0.157894737 ENSG00000089234 chr12:111672767-111672767;G/A missense_variant False BRAP@p.E136K 1 0.308823529 ENSG00000089234 chr12:111681674-111681674;C/T missense_variant False BRAP@p.E350K 1 0.237179487 ENSG00000089234 chr12:111659270-111659270;C/T missense_variant False BPTF@p.E746Q 1 0.272727273 ENSG00000171634 chr17:67886310-67886310;G/C missense_variant False BPTF@p.E1807Q 1 0.514285714 ENSG00000171634 chr17:67912925-67912925;G/C missense_variant False BPIFA3@p.R56Q 1 0.178571429 ENSG00000131059 chr20:33223850-33223850;G/A missense_variant False BPIFB4@p.H148Y 1 0.394736842 ENSG00000186191 chr20:33083639-33083639;C/T missense_variant False BPIFB6@p.G104E 1 0.0625 ENSG00000167104 chr20:33034771-33034771;G/A missense_variant False BPIFB6@p.F360L 1 0.094339623 ENSG00000167104 chr20:33040256-33040256;C/A missense_variant False BPIFB4@p.S366Y 1 0.5 ENSG00000186191 chr20:33090753-33090753;C/A missense_variant False BPIFB4@p.P511S 1 0.179487179 ENSG00000186191 chr20:33097749-33097749;C/T missense_variant False BPIFB4@p.L514V 1 0.212121212 ENSG00000186191 chr20:33097758-33097758;C/G missense_variant False BPIFB4@p.K493del 1 0.160839161 ENSG00000186191 chr20:33097693-33097695;AGA/- inframe_deletion False BPIFB3@p.S128C 1 0.272727273 ENSG00000186190 chr20:33059479-33059479;C/G missense_variant False BPTF@p.E1520Q 1 0.239583333 ENSG00000171634 chr17:67912064-67912064;G/C missense_variant False BPIFB3@p.P20A 1 0.115942029 ENSG00000186190 chr20:33055481-33055481;C/G missense_variant False BPIFB3@p.G447A 1 0.183486239 ENSG00000186190 chr20:33072732-33072732;G/C missense_variant False BPIFB3@p.E50K 1 0.357723577 ENSG00000186190 chr20:33056565-33056565;G/A missense_variant False BPIFB2@p.L297V 1 0.12145749 ENSG00000078898 chr20:33019095-33019095;C/G missense_variant False BPIFB1@p.D307H 1 0.137931034 ENSG00000125999 chr20:33301404-33301404;G/C missense_variant False BPIFA3@p.V77A 1 0.094594595 ENSG00000131059 chr20:33223913-33223913;T/C missense_variant False BPIFB6@p.G15S 1 0.105263158 ENSG00000167104 chr20:33031690-33031690;G/A missense_variant False BPIFB6@p.L256M 1 0.09375 ENSG00000167104 chr20:33037658-33037658;C/A missense_variant False BPIFB6@p.P306S 1 0.118881119 ENSG00000167104 chr20:33039362-33039362;C/T missense_variant False BPIFB6@p.S216I 1 0.142857143 ENSG00000167104 chr20:33036514-33036514;G/T missense_variant False BPIFB6@p.S378Y 1 0.541666667 ENSG00000167104 chr20:33040309-33040309;C/A missense_variant False BPIFB6@p.S390L 1 0.391752577 ENSG00000167104 chr20:33041996-33041996;C/T missense_variant False BPIFB6@p.S391L 1 0.463414634 ENSG00000167104 chr20:33041999-33041999;C/T missense_variant False BPIFC@p.A131T 1 0.617283951 ENSG00000184459 chr22:32445980-32445980;C/T missense_variant False BPIFC@p.E185K 1 0.154929577 ENSG00000184459 chr22:32445676-32445676;C/T missense_variant False BPIFC@p.I427S 1 0.060836502 ENSG00000184459 chr22:32417129-32417129;A/C missense_variant False BPNT1@p.L136V 1 0.078125 ENSG00000162813 chr1:220067370-220067370;G/C missense_variant False BPNT2@p.D57N 1 0.4 ENSG00000104331 chr8:56993417-56993417;C/T missense_variant False BPNT2@p.G304V 1 0.459459459 ENSG00000104331 chr8:56963962-56963962;C/A missense_variant False BPTF@p.D1618N 1 0.347368421 ENSG00000171634 chr17:67912358-67912358;G/A missense_variant False BPTF@p.D369N 1 0.178743961 ENSG00000171634 chr17:67854431-67854431;G/A missense_variant False BPTF@p.E1302K 1 0.724137931 ENSG00000171634 chr17:67911410-67911410;G/A missense_variant False BPTF@p.E1439Q 1 0.660377358 ENSG00000171634 chr17:67911821-67911821;G/C missense_variant False BNC2@p.W233R 1 0.104477612 ENSG00000173068 chr9:16437497-16437497;A/T missense_variant False BNC2@p.T85M 1 0.113744076 ENSG00000173068 chr9:16727873-16727873;G/A missense_variant False BNC2@p.S481C 1 0.413793103 ENSG00000173068 chr9:16436753-16436753;T/A missense_variant False BLZF1@p.K321N 1 0.133333333 ENSG00000117475 chr1:169382227-169382227;G/C missense_variant False BMI1@p.D105N 1 0.239130435 ENSG00000168283 chr10:22327789-22327789;G/A missense_variant False BMF@p.W161C 1 0.416666667 ENSG00000104081 chr15:40091859-40091859;C/G missense_variant False BMF@p.R135Q 1 0.223076923 ENSG00000104081 chr15:40104229-40104229;C/T missense_variant False BMERB1@p.E54Q 1 0.38 ENSG00000166780 chr16:15515358-15515358;G/C missense_variant False BMERB1@p.E137K 1 0.48 ENSG00000166780 chr16:15581321-15581321;G/A missense_variant False BLZF1@p.R381T 1 0.46969697 ENSG00000117475 chr1:169387121-169387121;G/C missense_variant False BLZF1@p.E58D 1 0.186440678 ENSG00000117475 chr1:169376685-169376685;G/C missense_variant False BLOC1S6@p.D35N 1 0.285714286 ENSG00000104164 chr15:45592155-45592155;G/A missense_variant False BLZF1@p.E383K 1 0.582089552 ENSG00000117475 chr1:169387126-169387126;G/A missense_variant False BLZF1@p.E137Q 1 0.344444444 ENSG00000117475 chr1:169376920-169376920;G/C missense_variant False BLVRA@p.S267F 1 0.347826087 ENSG00000106605 chr7:43807144-43807144;C/T missense_variant False BLVRA@p.E69K 1 0.067307692 ENSG00000106605 chr7:43791319-43791319;G/A missense_variant False BLVRA@p.E115K 1 0.866666667 ENSG00000106605 chr7:43792803-43792803;G/A missense_variant False BLVRA@p.D82G 1 0.64171123 ENSG00000106605 chr7:43791359-43791359;A/G missense_variant False BMI1@p.L164S 1 0.056338028 ENSG00000168283 chr10:22328619-22328619;T/C missense_variant False BMI1@p.S110C 1 0.193181818 ENSG00000168283 chr10:22327962-22327962;C/G missense_variant False BMP10@p.F43L 1 0.426470588 ENSG00000163217 chr2:68871230-68871230;G/T missense_variant False BMP10@p.M302I 1 0.525 ENSG00000163217 chr2:68866000-68866000;C/T missense_variant False BMP10@p.Y401H 1 0.181102362 ENSG00000163217 chr2:68865705-68865705;A/G missense_variant False BMP15@p.E380Q 1 0.516483516 ENSG00000130385 chrX:50916566-50916566;G/C missense_variant False BMP15@p.E382K 1 0.095238095 ENSG00000130385 chrX:50916572-50916572;G/A missense_variant False BMP15@p.F164L 1 0.263157895 ENSG00000130385 chrX:50915918-50915918;T/C missense_variant False BMP15@p.Q341H 1 0.071856287 ENSG00000130385 chrX:50916451-50916451;G/C missense_variant False BMP1@p.E945K 1 0.432432432 ENSG00000168487 chr8:22211600-22211600;G/A missense_variant False BMP1@p.K814E 1 0.336734694 ENSG00000168487 chr8:22207381-22207381;A/G missense_variant False BMP1@p.R117H 1 0.269230769 ENSG00000168487 chr8:22176230-22176230;G/A missense_variant False BMP1@p.R849Q 1 0.321428571 ENSG00000168487 chr8:22207487-22207487;G/A missense_variant False BMP2@p.P14S 1 0.227272727 ENSG00000125845 chr20:6770166-6770166;C/T missense_variant False BMP2K@p.A811Vfs*3 1 0.24137931 ENSG00000138756 chr4:78910975-78910979;AAAGC/- frameshift_variant False BMP2K@p.D1051Y 1 0.093681917 ENSG00000138756 chr4:78911698-78911698;G/T missense_variant False BMP2K@p.L264V 1 0.338235294 ENSG00000138756 chr4:78850963-78850963;C/G missense_variant False BLOC1S6@p.E151K 1 0.114285714 ENSG00000104164 chr15:45606446-45606446;G/A missense_variant False BLOC1S5@p.L91F 1 0.273684211 ENSG00000188428 chr6:8041193-8041193;G/A missense_variant False BMP2K@p.S1076F 1 0.318181818 ENSG00000138756 chr4:78911774-78911774;C/T missense_variant False BLM@p.R61K 1 0.344262295 ENSG00000197299 chr15:90749450-90749450;G/A missense_variant False BLMH@p.E347K 1 0.341176471 ENSG00000108578 chr17:30271378-30271378;C/T missense_variant False BLMH@p.D237N 1 0.227722772 ENSG00000108578 chr17:30274134-30274134;C/T missense_variant False BLM@p.S823C 1 0.52173913 ENSG00000197299 chr15:90769499-90769499;C/G missense_variant False BLM@p.S328C 1 0.26 ENSG00000197299 chr15:90754834-90754834;C/G missense_variant False BLM@p.R979T 1 0.071428571 ENSG00000197299 chr15:90790761-90790761;G/C missense_variant False BLM@p.R910T 1 0.1 ENSG00000197299 chr15:90784987-90784987;G/C missense_variant False BLM@p.Q1210H 1 0.247058824 ENSG00000197299 chr15:90804238-90804238;G/C missense_variant False BLOC1S5@p.G18D 1 0.294117647 ENSG00000188428 chr6:8064324-8064324;C/T missense_variant False BLM@p.K653M 1 0.461538462 ENSG00000197299 chr15:90763041-90763041;A/T missense_variant False BLM@p.G921V 1 0.19047619 ENSG00000197299 chr15:90785020-90785020;G/T missense_variant False BLM@p.E377Q 1 0.333333333 ENSG00000197299 chr15:90760188-90760188;G/C missense_variant False BLM@p.E1258K 1 0.08045977 ENSG00000197299 chr15:90809157-90809157;G/A missense_variant False BLM@p.E1157K 1 0.431578947 ENSG00000197299 chr15:90803631-90803631;G/A missense_variant False BLM@p.D110N 1 0.147058824 ENSG00000197299 chr15:90749596-90749596;G/A missense_variant False BLMH@p.M370I 1 0.194444444 ENSG00000108578 chr17:30271307-30271307;C/T missense_variant False BLMH@p.Q16H 1 0.058823529 ENSG00000108578 chr17:30291474-30291474;C/G missense_variant False BLMH@p.S397L 1 0.215384615 ENSG00000108578 chr17:30266911-30266911;G/A missense_variant False BLNK@p.D184H 1 0.276595745 ENSG00000095585 chr10:96216710-96216710;C/G missense_variant False BLNK@p.E102K 1 0.396825397 ENSG00000095585 chr10:96227467-96227467;C/T missense_variant False BLNK@p.E61Q 1 0.5 ENSG00000095585 chr10:96230817-96230817;C/G missense_variant False BLNK@p.E77K 1 0.204081633 ENSG00000095585 chr10:96227542-96227542;C/T missense_variant False BLNK@p.G317Efs*69 1 0.085106383 ENSG00000095585 chr10:96201043-96201043;C/- frameshift_variant False BLNK@p.L436F 1 0.522727273 ENSG00000095585 chr10:96192038-96192038;G/A missense_variant False BLNK@p.P10S 1 0.4375 ENSG00000095585 chr10:96271371-96271371;G/A missense_variant False BLNK@p.V85M 1 0.259259259 ENSG00000095585 chr10:96227518-96227518;C/T missense_variant False BLOC1S1@p.E130K 1 0.195121951 ENSG00000135441 chr12:55719535-55719535;G/A missense_variant False BLOC1S2@p.A3V 1 0.333333333 ENSG00000196072 chr10:100286652-100286652;G/A missense_variant False BLOC1S2@p.E27K 1 0.341463415 ENSG00000196072 chr10:100286190-100286190;C/T missense_variant False BLOC1S2@p.M44K 1 0.133333333 ENSG00000196072 chr10:100286138-100286138;A/T missense_variant False BLOC1S3@p.E15Q 1 0.25 ENSG00000189114 chr19:45179339-45179339;G/C missense_variant False BLOC1S4@p.S181W 1 0.428571429 ENSG00000186222 chr4:6716751-6716751;C/G missense_variant False BMP2K@p.P1100Q 1 0.423529412 ENSG00000138756 chr4:78911846-78911846;C/A missense_variant False BMP2K@p.S965T 1 0.157894737 ENSG00000138756 chr4:78911441-78911441;G/C missense_variant False BNC2@p.S288T 1 0.163934426 ENSG00000173068 chr9:16437331-16437331;C/G missense_variant False BMS1@p.G761E 1 0.129032258 ENSG00000165733 chr10:42802171-42802171;G/A missense_variant False BMT2@p.F394L 1 0.504504505 ENSG00000164603 chr7:112821780-112821780;G/T missense_variant False BMT2@p.E32K 1 0.179487179 ENSG00000164603 chr7:112939657-112939657;C/T missense_variant False BMT2@p.E182Q 1 0.05 ENSG00000164603 chr7:112832605-112832605;C/G missense_variant False BMS1@p.S599L 1 0.517045455 ENSG00000165733 chr10:42797040-42797040;C/T missense_variant False BMS1@p.L235V 1 0.13559322 ENSG00000165733 chr10:42791693-42791693;C/G missense_variant False BMS1@p.G761R 1 0.130434783 ENSG00000165733 chr10:42802170-42802170;G/A missense_variant False BMS1@p.F1082Y 1 0.142857143 ENSG00000165733 chr10:42823230-42823230;T/A missense_variant False BMPR2@p.S547F 1 0.375 ENSG00000204217 chr2:202555305-202555305;C/T missense_variant False BMS1@p.E704Q 1 0.085714286 ENSG00000165733 chr10:42798488-42798488;G/C missense_variant False BMS1@p.E595K 1 0.184210526 ENSG00000165733 chr10:42797027-42797027;G/A missense_variant False BMS1@p.E591K 1 0.226086957 ENSG00000165733 chr10:42797015-42797015;G/A missense_variant False BMS1@p.E113D 1 0.085106383 ENSG00000165733 chr10:42785644-42785644;G/C missense_variant False BMS1@p.D448Y 1 0.391666667 ENSG00000165733 chr10:42796586-42796586;G/T missense_variant False BMPR2@p.S765L 1 0.220183486 ENSG00000204217 chr2:202555959-202555959;C/T missense_variant False BMT2@p.R332S 1 0.142857143 ENSG00000164603 chr7:112821966-112821966;C/G missense_variant False BMX@p.E42K 1 0.065 ENSG00000102010 chrX:15508477-15508477;G/A missense_variant False BMX@p.K19N 1 0.85 ENSG00000102010 chrX:15508410-15508410;G/C missense_variant False BMX@p.R670W 1 0.315 ENSG00000102010 chrX:15556127-15556127;C/T missense_variant False BMX@p.S664F 1 0.424242424 ENSG00000102010 chrX:15556110-15556110;C/T missense_variant False BNC1@p.D286N 1 0.252873563 ENSG00000169594 chr15:83264395-83264395;C/T missense_variant False BNC1@p.E346Q 1 0.144444444 ENSG00000169594 chr15:83264215-83264215;C/G missense_variant False BNC1@p.E363K 1 0.2 ENSG00000169594 chr15:83264164-83264164;C/T missense_variant False BNC1@p.K313E 1 0.209677419 ENSG00000169594 chr15:83264314-83264314;T/C missense_variant False BNC1@p.R114Q 1 0.444444444 ENSG00000169594 chr15:83266930-83266930;C/T missense_variant False BNC1@p.R412G 1 0.314285714 ENSG00000169594 chr15:83264017-83264017;G/C missense_variant False BNC1@p.S292F 1 0.47826087 ENSG00000169594 chr15:83264376-83264376;G/A missense_variant False BNC2@p.D961N 1 0.22 ENSG00000173068 chr9:16419408-16419408;C/T missense_variant False BNC2@p.E89K 1 0.3125 ENSG00000173068 chr9:16727862-16727862;C/T missense_variant False BNC2@p.Q551H 1 0.54368932 ENSG00000173068 chr9:16436541-16436541;T/G missense_variant False BNC2@p.R1060T 1 0.939393939 ENSG00000173068 chr9:16419110-16419110;C/G missense_variant False BNC2@p.R185Q 1 0.2 ENSG00000173068 chr9:16552645-16552645;C/T missense_variant False BMPR2@p.S568Y 1 0.2 ENSG00000204217 chr2:202555368-202555368;C/A missense_variant False BMPR2@p.R272L 1 0.404411765 ENSG00000204217 chr2:202519015-202519015;G/T missense_variant False BMP3@p.Q162E 1 0.042857143 ENSG00000152785 chr4:81045905-81045905;C/G missense_variant False BMP5@p.S69L 1 0.321212121 ENSG00000112175 chr6:55874660-55874660;G/A missense_variant False BMP7@p.Q380H 1 0.219512195 ENSG00000101144 chr20:57173206-57173206;C/G missense_variant False BMP7@p.N317K 1 0.162162162 ENSG00000101144 chr20:57183729-57183729;G/T missense_variant False BMP6@p.S487L 1 0.517857143 ENSG00000153162 chr6:7880261-7880261;C/T missense_variant False BMP6@p.N386I 1 0.215189873 ENSG00000153162 chr6:7862451-7862451;A/T missense_variant False BMP6@p.L187V 1 0.333333333 ENSG00000153162 chr6:7727514-7727514;C/G missense_variant False BMP6@p.E471K 1 0.387878788 ENSG00000153162 chr6:7880212-7880212;G/A missense_variant False BMP5@p.R113G 1 0.193548387 ENSG00000112175 chr6:55874529-55874529;T/C missense_variant False BMPR2@p.E590K 1 0.369230769 ENSG00000204217 chr2:202555433-202555433;G/A missense_variant False BMP5@p.H413N 1 0.324324324 ENSG00000112175 chr6:55755661-55755661;G/T missense_variant False BMP5@p.H332Y 1 0.127272727 ENSG00000112175 chr6:55774082-55774082;G/A missense_variant False BMP5@p.E212K 1 0.363636364 ENSG00000112175 chr6:55819704-55819704;C/T missense_variant False BMP4@p.M9I 1 0.391304348 ENSG00000125378 chr14:53952196-53952196;C/A missense_variant False BMP3@p.S250F 1 0.120567376 ENSG00000152785 chr4:81046170-81046170;C/T missense_variant False BMP3@p.S250C 1 0.083333333 ENSG00000152785 chr4:81046170-81046170;C/G missense_variant False BMP7@p.T189M 1 0.097402597 ENSG00000101144 chr20:57228274-57228274;G/A missense_variant False BMP8A@p.D103Y 1 0.136363636 ENSG00000183682 chr1:39492298-39492298;G/T missense_variant False BMP8A@p.R242L 1 0.133333333 ENSG00000183682 chr1:39521427-39521427;G/T missense_variant False BMP8B@p.C330G 1 0.184210526 ENSG00000116985 chr1:39763163-39763163;A/C missense_variant False BMP8B@p.P322S 1 0.35 ENSG00000116985 chr1:39763187-39763187;G/A missense_variant False BMPER@p.D476H 1 0.126984127 ENSG00000164619 chr7:34085773-34085773;G/C missense_variant False BMPER@p.I643M 1 0.397260274 ENSG00000164619 chr7:34153144-34153144;C/G missense_variant False BMPER@p.K185T 1 0.41025641 ENSG00000164619 chr7:33974762-33974762;A/C missense_variant False BMPER@p.L252V 1 0.181818182 ENSG00000164619 chr7:34051938-34051938;C/G missense_variant False BMPER@p.Y110C 1 0.119402985 ENSG00000164619 chr7:33966488-33966488;A/G missense_variant False BMPR1A@p.P140Lfs*4 1 0.136363636 ENSG00000107779 chr10:86899875-86899875;C/- frameshift_variant False BMPR1A@p.S98L 1 0.230769231 ENSG00000107779 chr10:86892189-86892189;C/T missense_variant False BMPR1B@p.G211E 1 0.348837209 ENSG00000138696 chr4:95129908-95129908;G/A missense_variant False BMPR1B@p.H88R 1 0.067961165 ENSG00000138696 chr4:95115701-95115701;A/G missense_variant False BMPR1B@p.S131F 1 0.296610169 ENSG00000138696 chr4:95123852-95123852;C/T missense_variant False BMPR2@p.E415Q 1 0.56 ENSG00000204217 chr2:202532699-202532699;G/C missense_variant False BMPR2@p.E498Q 1 0.651982379 ENSG00000204217 chr2:202552794-202552794;G/C missense_variant False BRAP@p.E392K 1 0.185185185 ENSG00000089234 chr12:111658783-111658783;C/T missense_variant False BRAP@p.Y356C 1 0.290909091 ENSG00000089234 chr12:111659251-111659251;T/C missense_variant False BTAF1@p.R1739W 1 0.447916667 ENSG00000095564 chr10:92026731-92026731;C/T missense_variant False BRPF1@p.E259G 1 0.641509434 ENSG00000156983 chr3:9739175-9739175;A/G missense_variant False BRPF3@p.D1163N 1 0.327586207 ENSG00000096070 chr6:36230478-36230478;G/A missense_variant False BRPF3@p.C259Y 1 0.240963855 ENSG00000096070 chr6:36201098-36201098;G/A missense_variant False BRPF1@p.K906N 1 0.344537815 ENSG00000156983 chr3:9744324-9744324;G/T missense_variant False BRPF1@p.G924R 1 0.416666667 ENSG00000156983 chr3:9744376-9744376;G/C missense_variant False BRPF1@p.G433D 1 0.117647059 ENSG00000156983 chr3:9739697-9739697;G/A missense_variant False BRPF1@p.E259Q 1 0.324324324 ENSG00000156983 chr3:9739174-9739174;G/C missense_variant False BRPF1@p.E1041K 1 0.112107623 ENSG00000156983 chr3:9745643-9745643;G/A missense_variant False BRPF3@p.E1128K 1 0.285714286 ENSG00000096070 chr6:36229004-36229004;G/A missense_variant False BRPF1@p.D344N 1 0.039370079 ENSG00000156983 chr3:9739429-9739429;G/A missense_variant False BROX@p.Y234C 1 0.452830189 ENSG00000162819 chr1:222728773-222728773;A/G missense_variant False BROX@p.S235C 1 0.166666667 ENSG00000162819 chr1:222728776-222728776;C/G missense_variant False BROX@p.R42Q 1 0.354166667 ENSG00000162819 chr1:222718948-222718948;G/A missense_variant False BROX@p.I271M 1 0.416666667 ENSG00000162819 chr1:222729676-222729676;C/G missense_variant False BROX@p.D382N 1 0.136690647 ENSG00000162819 chr1:222731511-222731511;G/A missense_variant False BRPF3@p.E1025K 1 0.147727273 ENSG00000096070 chr6:36218000-36218000;G/A missense_variant False BRPF3@p.E185Q 1 0.279069767 ENSG00000096070 chr6:36200875-36200875;G/C missense_variant False BRAT1@p.E181K 1 0.514925373 ENSG00000106009 chr7:2543852-2543852;C/T missense_variant False BRSK1@p.A576T 1 0.480769231 ENSG00000160469 chr19:55305329-55305329;G/A missense_variant False BRSK2@p.L425R 1 0.24137931 ENSG00000174672 chr11:1449823-1449823;T/G missense_variant False BRSK2@p.E529Q 1 0.5 ENSG00000174672 chr11:1454525-1454525;G/C missense_variant False BRSK2@p.E402K 1 0.388888889 ENSG00000174672 chr11:1445885-1445885;G/A missense_variant False BRSK1@p.R389C 1 0.434210526 ENSG00000160469 chr19:55303705-55303705;C/T missense_variant False BRSK1@p.K242N 1 0.785714286 ENSG00000160469 chr19:55301559-55301559;G/C missense_variant False BRSK1@p.D366N 1 0.186046512 ENSG00000160469 chr19:55303378-55303378;G/A missense_variant False BRSK1@p.A197V 1 0.202531646 ENSG00000160469 chr19:55294228-55294228;C/T missense_variant False BRPF3@p.L230F 1 0.06122449 ENSG00000096070 chr6:36201010-36201010;C/T missense_variant False BRS3@p.Y301D 1 0.083333333 ENSG00000102239 chrX:136492076-136492076;T/G missense_variant False BRS3@p.S130P 1 0.111111111 ENSG00000102239 chrX:136488502-136488502;T/C missense_variant False BRS3@p.R192G 1 0.413043478 ENSG00000102239 chrX:136490272-136490272;C/G missense_variant False BRPF3@p.S19F 1 0.071428571 ENSG00000096070 chr6:36200378-36200378;C/T missense_variant False BRPF3@p.R906K 1 0.207792208 ENSG00000096070 chr6:36214114-36214114;G/A missense_variant False BRPF3@p.R502Q 1 0.403899721 ENSG00000096070 chr6:36204714-36204714;G/A missense_variant False BRMS1@p.R89Q 1 0.28 ENSG00000174744 chr11:66341298-66341298;C/T missense_variant False BRMS1@p.R115H 1 0.292682927 ENSG00000174744 chr11:66341220-66341220;C/T missense_variant False BRMS1@p.G36S 1 0.15 ENSG00000174744 chr11:66342129-66342129;C/T missense_variant False BRINP3@p.R681L 1 0.135678392 ENSG00000162670 chr1:190098277-190098277;C/A missense_variant False BRIP1@p.D1051N 1 0.267045455 ENSG00000136492 chr17:61683895-61683895;C/T missense_variant False BRINP3@p.Y542H 1 0.079545455 ENSG00000162670 chr1:190098695-190098695;A/G missense_variant False BRINP3@p.S49C 1 0.344827586 ENSG00000162670 chr1:190454745-190454745;G/C missense_variant False BRINP3@p.S470R 1 0.098039216 ENSG00000162670 chr1:190098909-190098909;G/T missense_variant False BRINP3@p.S267T 1 0.24742268 ENSG00000162670 chr1:190226244-190226244;A/T missense_variant False BRINP3@p.S138Y 1 0.172727273 ENSG00000162670 chr1:190281574-190281574;G/T missense_variant False BRINP3@p.R632S 1 0.071216617 ENSG00000162670 chr1:190098425-190098425;G/T missense_variant False BRMS1@p.E91Q 1 0.120879121 ENSG00000174744 chr11:66341293-66341293;C/G missense_variant False BRINP3@p.R530C 1 0.151515152 ENSG00000162670 chr1:190098731-190098731;G/A missense_variant False BRINP3@p.P575H 1 0.105263158 ENSG00000162670 chr1:190098595-190098595;G/T missense_variant False BRINP3@p.C410F 1 0.52 ENSG00000162670 chr1:190099090-190099090;C/A missense_variant False BRINP3@p.A33T 1 0.19047619 ENSG00000162670 chr1:190454794-190454794;C/T missense_variant False BRINP3@p.A182T 1 0.401709402 ENSG00000162670 chr1:190264939-190264939;C/T missense_variant False BRINP2@p.R67H 1 0.417582418 ENSG00000198797 chr1:177230076-177230076;G/A missense_variant False BRIP1@p.D1112H 1 0.323529412 ENSG00000136492 chr17:61683712-61683712;C/G missense_variant False BRIP1@p.D363N 1 0.103448276 ENSG00000136492 chr17:61801306-61801306;C/T missense_variant False BRIP1@p.E1126Kfs*24 1 0.260869565 ENSG00000136492 chr17:61683670-61683670;C/- frameshift_variant False BRIP1@p.E1172K 1 0.885714286 ENSG00000136492 chr17:61683532-61683532;C/T missense_variant False BRIP1@p.E626K 1 0.264957265 ENSG00000136492 chr17:61780320-61780320;C/T missense_variant False BRIP1@p.E910Q 1 0.475961538 ENSG00000136492 chr17:61686013-61686013;C/G missense_variant False BRIP1@p.I633M 1 0.280701754 ENSG00000136492 chr17:61780297-61780297;G/C missense_variant False BRIP1@p.I640M 1 0.122641509 ENSG00000136492 chr17:61780276-61780276;G/C missense_variant False BRIP1@p.K159E 1 0.133928571 ENSG00000136492 chr17:61849161-61849161;T/C missense_variant False BRIP1@p.L842V 1 0.276923077 ENSG00000136492 chr17:61693481-61693481;G/C missense_variant False BRIP1@p.Q561H 1 0.189189189 ENSG00000136492 chr17:61780951-61780951;C/G missense_variant False BRIP1@p.R1157T 1 0.191780822 ENSG00000136492 chr17:61683576-61683576;C/G missense_variant False BRIP1@p.R1174T 1 0.073469388 ENSG00000136492 chr17:61683525-61683525;C/G missense_variant False BRIP1@p.S139C 1 0.163793103 ENSG00000136492 chr17:61849220-61849220;G/C missense_variant False BRIX1@p.R218W 1 0.5 ENSG00000113460 chr5:34923223-34923223;C/T missense_variant False BRIX1@p.S133L 1 0.360655738 ENSG00000113460 chr5:34922550-34922550;C/T missense_variant False BRMS1@p.E54K 1 0.174157303 ENSG00000174744 chr11:66341603-66341603;C/T missense_variant False BRWD1@p.D698H 1 0.166666667 ENSG00000185658 chr21:39255808-39255808;C/G missense_variant False BRWD1@p.E1144K 1 0.358974359 ENSG00000185658 chr21:39218613-39218613;C/T missense_variant False BRWD1@p.E2294K 1 0.543478261 ENSG00000185658 chr21:39187109-39187109;C/T missense_variant False BSN@p.Q3859E 1 0.416666667 ENSG00000164061 chr3:49663853-49663853;C/G missense_variant False BSN@p.S3725F 1 0.361702128 ENSG00000164061 chr3:49663332-49663332;C/T missense_variant False BSN@p.R3229G 1 0.073170732 ENSG00000164061 chr3:49661530-49661530;C/G missense_variant False BSN@p.R2835H 1 0.650406504 ENSG00000164061 chr3:49658060-49658060;G/A missense_variant False BSN@p.R1813T 1 0.65 ENSG00000164061 chr3:49654994-49654994;G/C missense_variant False BSN@p.R110Q 1 0.35 ENSG00000164061 chr3:49625079-49625079;G/A missense_variant False BSN@p.Q694H 1 0.636363636 ENSG00000164061 chr3:49651638-49651638;G/C missense_variant False BSN@p.Q1756H 1 0.094339623 ENSG00000164061 chr3:49654824-49654824;G/C missense_variant False BSN@p.E264Q 1 0.285714286 ENSG00000164061 chr3:49642424-49642424;G/C missense_variant False BSN@p.Q160E 1 0.472222222 ENSG00000164061 chr3:49625228-49625228;C/G missense_variant False BSN@p.P1388T 1 0.333333333 ENSG00000164061 chr3:49653718-49653718;C/A missense_variant False BSN@p.H3717N 1 0.121621622 ENSG00000164061 chr3:49663307-49663307;C/A missense_variant False BSN@p.F203L 1 0.425 ENSG00000164061 chr3:49625359-49625359;C/G missense_variant False BSN@p.E3376K 1 0.421568627 ENSG00000164061 chr3:49661971-49661971;G/A missense_variant False BSN@p.E2964K 1 0.176470588 ENSG00000164061 chr3:49660735-49660735;G/A missense_variant False BSN@p.S691F 1 0.200980392 ENSG00000164061 chr3:49651628-49651628;C/T missense_variant False BSN@p.S722F 1 0.663636364 ENSG00000164061 chr3:49651721-49651721;C/T missense_variant False BSND@p.M26I 1 0.477272727 ENSG00000162399 chr1:54999264-54999264;G/A missense_variant False BSPRY@p.D395H 1 0.564102564 ENSG00000119411 chr9:113370116-113370116;G/C missense_variant False BST1@p.I202M 1 0.323529412 ENSG00000109743 chr4:15715356-15715356;C/G missense_variant False BST1@p.L141F 1 0.47008547 ENSG00000109743 chr4:15707618-15707618;G/C missense_variant False BST1@p.R103K 1 0.563829787 ENSG00000109743 chr4:15705634-15705634;G/A missense_variant False BSX@p.E217K 1 0.277777778 ENSG00000188909 chr11:122977702-122977702;C/T missense_variant False BSX@p.K127N 1 0.489051095 ENSG00000188909 chr11:122979339-122979339;C/A missense_variant False BSX@p.L135V 1 0.275862069 ENSG00000188909 chr11:122979317-122979317;G/C missense_variant False BTAF1@p.D1474Y 1 0.315217391 ENSG00000095564 chr10:92013775-92013775;G/T missense_variant False BTAF1@p.E75Q 1 0.36 ENSG00000095564 chr10:91940036-91940036;G/C missense_variant False BTAF1@p.L496F 1 0.508474576 ENSG00000095564 chr10:91964158-91964158;C/T missense_variant False BTAF1@p.M1142I 1 0.419354839 ENSG00000095564 chr10:91996485-91996485;G/C missense_variant False BTAF1@p.P1227A 1 0.12745098 ENSG00000095564 chr10:92008141-92008141;C/G missense_variant False BTAF1@p.Q826E 1 0.3 ENSG00000095564 chr10:91989202-91989202;C/G missense_variant False BTAF1@p.Q906K 1 0.178571429 ENSG00000095564 chr10:91989442-91989442;C/A missense_variant False BSN@p.E2943K 1 0.263157895 ENSG00000164061 chr3:49660672-49660672;G/A missense_variant False BSN@p.E2443K 1 0.5 ENSG00000164061 chr3:49656883-49656883;G/A missense_variant False BRWD1@p.I1382M 1 0.295774648 ENSG00000185658 chr21:39210046-39210046;G/C missense_variant False BRWD1@p.S1798C 1 0.204301075 ENSG00000185658 chr21:39199023-39199023;G/C missense_variant False BRWD3@p.D1734H 1 0.1 ENSG00000165288 chrX:80676818-80676818;C/G missense_variant False BRWD3@p.A715S 1 0.29245283 ENSG00000165288 chrX:80717661-80717661;C/A missense_variant False BRWD1@p.V2237D 1 0.269035533 ENSG00000185658 chr21:39187279-39187279;A/T missense_variant False BRWD1@p.V100I 1 0.258741259 ENSG00000185658 chr21:39298483-39298483;C/T missense_variant False BRWD1@p.T1934M 1 0.647727273 ENSG00000185658 chr21:39197268-39197268;G/A missense_variant False BRWD1@p.S2293F 1 0.276699029 ENSG00000185658 chr21:39187111-39187111;G/A missense_variant False BRWD1@p.S110C 1 0.245033113 ENSG00000185658 chr21:39298452-39298452;G/C missense_variant False BSN@p.E1101Q 1 0.25 ENSG00000164061 chr3:49652857-49652857;G/C missense_variant False BRWD1@p.Q727H 1 0.37804878 ENSG00000185658 chr21:39255719-39255719;C/G missense_variant False BRWD1@p.P584H 1 0.470588235 ENSG00000185658 chr21:39264594-39264594;G/T missense_variant False BRWD1@p.P314L 1 0.141509434 ENSG00000185658 chr21:39278805-39278805;G/A missense_variant False BRWD1@p.L1179I 1 0.205882353 ENSG00000185658 chr21:39218508-39218508;G/T missense_variant False BRWD1@p.I771M 1 0.373134328 ENSG00000185658 chr21:39250832-39250832;T/C missense_variant False BRWD1@p.I413M 1 0.508474576 ENSG00000185658 chr21:39274379-39274379;G/C missense_variant False BRWD3@p.D834N 1 0.222222222 ENSG00000165288 chrX:80707479-80707479;C/T missense_variant False BRWD3@p.E1566Q 1 0.416666667 ENSG00000165288 chrX:80677322-80677322;C/G missense_variant False BRWD3@p.E1772D 1 0.158730159 ENSG00000165288 chrX:80676702-80676702;C/G missense_variant False BRWD3@p.K1409Sfs*7 1 0.1375 ENSG00000165288 chrX:80684017-80684017;T/- frameshift_variant False BSCL2@p.F52L 1 0.238095238 ENSG00000168000 chr11:62705357-62705357;G/C missense_variant False BSCL2@p.M101I 1 0.383333333 ENSG00000168000 chr11:62694703-62694703;C/T missense_variant False BSCL2@p.S318L 1 0.440677966 ENSG00000168000 chr11:62690795-62690795;G/A missense_variant False BSDC1@p.A53V 1 0.421052632 ENSG00000160058 chr1:32386810-32386810;G/A missense_variant False BSDC1@p.E355Q 1 0.323076923 ENSG00000160058 chr1:32376355-32376355;C/G missense_variant False BSDC1@p.M74I 1 0.201388889 ENSG00000160058 chr1:32383965-32383965;C/T missense_variant False BSG@p.H218Y 1 0.314285714 ENSG00000172270 chr19:580458-580458;C/T missense_variant False BSG@p.K257N 1 0.35483871 ENSG00000172270 chr19:580761-580761;G/C missense_variant False BSN@p.A1245T 1 0.382608696 ENSG00000164061 chr3:49653289-49653289;G/A missense_variant False BSN@p.A1401D 1 0.090909091 ENSG00000164061 chr3:49653758-49653758;C/A missense_variant False BSN@p.D2966H 1 0.52173913 ENSG00000164061 chr3:49660741-49660741;G/C missense_variant False BSN@p.D3137N 1 0.28125 ENSG00000164061 chr3:49661254-49661254;G/A missense_variant False BSN@p.E1049Q 1 0.230769231 ENSG00000164061 chr3:49652701-49652701;G/C missense_variant False BRINP2@p.L576I 1 0.2 ENSG00000198797 chr1:177280902-177280902;C/A missense_variant False BRINP2@p.E494Q 1 0.212765957 ENSG00000198797 chr1:177280656-177280656;G/C missense_variant False BRINP2@p.E336K 1 0.493670886 ENSG00000198797 chr1:177276428-177276428;G/A missense_variant False BRCA2@p.Q2943E 1 0.272727273 ENSG00000139618 chr13:32379389-32379389;C/G missense_variant True BRCA2@p.S1720Ffs*7 1 0.402777778 ENSG00000139618 chr13:32339511-32339512;-/T frameshift_variant True BRCA2@p.R858T 1 0.086419753 ENSG00000139618 chr13:32336928-32336928;G/C missense_variant True BRCA2@p.R2273K 1 0.245454545 ENSG00000139618 chr13:32341173-32341173;G/A missense_variant True BRCA2@p.R1570T 1 0.161016949 ENSG00000139618 chr13:32339064-32339064;G/C missense_variant True BRCA2@p.Q649H 1 0.324324324 ENSG00000139618 chr13:32336302-32336302;G/C missense_variant True BRCA2@p.Q609H 1 0.173913043 ENSG00000139618 chr13:32333305-32333305;A/C missense_variant True BRCA2@p.Q2354E 1 0.254901961 ENSG00000139618 chr13:32354913-32354913;C/G missense_variant True BRCA2@p.E3405Q 1 0.559322034 ENSG00000139618 chr13:32398726-32398726;G/C missense_variant True BRCA2@p.Q1089E 1 0.241758242 ENSG00000139618 chr13:32337620-32337620;C/G missense_variant True BRCA2@p.M192T 1 0.544444444 ENSG00000139618 chr13:32326557-32326557;T/C missense_variant True BRCA2@p.L2753F 1 0.25 ENSG00000139618 chr13:32363459-32363459;C/T missense_variant True BRCA2@p.L1908V 1 0.382352941 ENSG00000139618 chr13:32340077-32340077;C/G missense_variant True BRCA2@p.I1136M 1 0.238095238 ENSG00000139618 chr13:32337763-32337763;A/G missense_variant True BRCA2@p.G2755A 1 0.541666667 ENSG00000139618 chr13:32363466-32363466;G/C missense_variant True BRCA2@p.S3014L 1 0.157894737 ENSG00000139618 chr13:32379837-32379837;C/T missense_variant True BRCA2@p.S708Y 1 0.22 ENSG00000139618 chr13:32336478-32336478;C/A missense_variant True BRCA2@p.T868I 1 0.093220339 ENSG00000139618 chr13:32336958-32336958;C/T missense_variant True BRCC3@p.E205K 1 0.68 ENSG00000185515 chrX:155099379-155099379;G/A missense_variant False BRD1@p.A442S 1 0.468085106 ENSG00000100425 chr22:49822994-49822994;C/A missense_variant False BRD1@p.C385Y 1 0.365482234 ENSG00000100425 chr22:49823164-49823164;C/T missense_variant False BRD1@p.P454S 1 0.333333333 ENSG00000100425 chr22:49822958-49822958;G/A missense_variant False BRD1@p.Q35E 1 0.31884058 ENSG00000100425 chr22:49824215-49824215;G/C missense_variant False BRD1@p.R475_W480del 1 0.228571429 ENSG00000100425 chr22:49804287-49804304;GCCAGTAGCTGTGGGCTC/- inframe_deletion False BRD1@p.R487G 1 0.417721519 ENSG00000100425 chr22:49804269-49804269;T/C missense_variant False BRD1@p.R954L 1 0.534883721 ENSG00000100425 chr22:49775723-49775723;C/A missense_variant False BRD2@p.E232Q 1 0.411111111 ENSG00000204256 chr6:32976333-32976333;G/C missense_variant False BRD2@p.E404D 1 0.298387097 ENSG00000204256 chr6:32977453-32977453;G/C missense_variant False BRD2@p.E506D 1 0.068181818 ENSG00000204256 chr6:32977945-32977945;G/C missense_variant False BRD2@p.E673Q 1 0.884615385 ENSG00000204256 chr6:32980003-32980003;G/C missense_variant False BRD2@p.E700Q 1 0.12 ENSG00000204256 chr6:32980084-32980084;G/C missense_variant False BRD2@p.E759D 1 0.315789474 ENSG00000204256 chr6:32980589-32980589;G/C missense_variant False BRCA2@p.E897K 1 0.214285714 ENSG00000139618 chr13:32337044-32337044;G/A missense_variant True BRCA2@p.E3043A 1 0.545454545 ENSG00000139618 chr13:32380017-32380017;A/C missense_variant True BRD2@p.L90V 1 0.217391304 ENSG00000204256 chr6:32974700-32974700;C/G missense_variant False BRCA1@p.E303K 1 0.511904762 ENSG00000012048 chr17:43094624-43094624;C/T missense_variant True BRCA1@p.Q957E 1 0.125748503 ENSG00000012048 chr17:43092662-43092662;G/C missense_variant True BRCA1@p.N913S 1 0.456140351 ENSG00000012048 chr17:43092793-43092793;T/C missense_variant True BRCA1@p.M1689I 1 1.0 ENSG00000012048 chr17:43067615-43067615;C/T missense_variant True BRCA1@p.L1764I 1 0.156862745 ENSG00000012048 chr17:43051105-43051105;G/T missense_variant True BRCA1@p.E84K 1 0.204545455 ENSG00000012048 chr17:43104919-43104919;C/T missense_variant True BRCA1@p.E572K 1 0.95959596 ENSG00000012048 chr17:43093817-43093817;C/T missense_variant True BRCA1@p.E1581K 1 0.927083333 ENSG00000012048 chr17:43071173-43071173;C/T missense_variant True BRCA2@p.E2343Q 1 0.325581395 ENSG00000139618 chr13:32354880-32354880;G/C missense_variant True BRCA1@p.E1210Q 1 0.611111111 ENSG00000012048 chr17:43091903-43091903;C/G missense_variant True BRCA1@p.C903S 1 0.105263158 ENSG00000012048 chr17:43092823-43092823;C/G missense_variant True BRAT1@p.S208F 1 0.224299065 ENSG00000106009 chr7:2543770-2543770;G/A missense_variant False BRAT1@p.E770K 1 0.123076923 ENSG00000106009 chr7:2538227-2538227;C/T missense_variant False BRAT1@p.E738K 1 0.188679245 ENSG00000106009 chr7:2538323-2538323;C/T missense_variant False BRAT1@p.E656Q 1 0.166666667 ENSG00000106009 chr7:2538569-2538569;C/G missense_variant False BRCA1@p.R446T 1 0.398305085 ENSG00000012048 chr17:43094194-43094194;C/G missense_variant True BRCA1@p.T557K 1 0.180327869 ENSG00000012048 chr17:43093861-43093861;G/T missense_variant True BRCA1@p.W353C 1 0.440944882 ENSG00000012048 chr17:43094472-43094472;C/G missense_variant True BRCA2@p.D1386Y 1 0.235294118 ENSG00000139618 chr13:32338511-32338511;G/T missense_variant True BRCA2@p.D1911N 1 0.214285714 ENSG00000139618 chr13:32340086-32340086;G/A missense_variant True BRCA2@p.D3260H 1 0.051162791 ENSG00000139618 chr13:32398291-32398291;G/C missense_variant True BRCA2@p.D381G 1 0.13125 ENSG00000139618 chr13:32332620-32332620;A/G missense_variant True BRCA2@p.D427G 1 0.375886525 ENSG00000139618 chr13:32332758-32332758;A/G missense_variant True BRCA2@p.D526N 1 0.126760563 ENSG00000139618 chr13:32333054-32333054;G/A missense_variant True BRCA2@p.E1046K 1 0.126760563 ENSG00000139618 chr13:32337491-32337491;G/A missense_variant True BRCA2@p.E1126K 1 0.319148936 ENSG00000139618 chr13:32337731-32337731;G/A missense_variant True BRCA2@p.E1126Q 1 0.326086957 ENSG00000139618 chr13:32337731-32337731;G/C missense_variant True BRCA2@p.E1518Q 1 0.488372093 ENSG00000139618 chr13:32338907-32338907;G/C missense_variant True BRCA2@p.E1726K 1 0.25 ENSG00000139618 chr13:32339531-32339531;G/A missense_variant True BRCA2@p.E1895K 1 0.15625 ENSG00000139618 chr13:32340038-32340038;G/A missense_variant True BRCA2@p.E2081Q 1 0.428571429 ENSG00000139618 chr13:32340596-32340596;G/C missense_variant True BRCA2@p.E2258K 1 0.08490566 ENSG00000139618 chr13:32341127-32341127;G/A missense_variant True BRD2@p.K551N 1 0.5 ENSG00000204256 chr6:32978200-32978200;A/C missense_variant False BRD2@p.N424K 1 0.127586207 ENSG00000204256 chr6:32977513-32977513;C/G missense_variant False BRINP2@p.E287K 1 0.256410256 ENSG00000198797 chr1:177276281-177276281;G/A missense_variant False BRDT@p.P178T 1 0.13 ENSG00000137948 chr1:91976352-91976352;C/A missense_variant False BRF1@p.V469M 1 0.289215686 ENSG00000185024 chr14:105219205-105219205;C/T missense_variant False BRF1@p.S424L 1 0.222222222 ENSG00000185024 chr14:105221692-105221692;G/A missense_variant False BRF1@p.M475I 1 0.193832599 ENSG00000185024 chr14:105219185-105219185;C/T missense_variant False BRF1@p.E640K 1 0.737864078 ENSG00000185024 chr14:105211200-105211200;C/T missense_variant False BRF1@p.E202K 1 0.283333333 ENSG00000185024 chr14:105241355-105241355;C/T missense_variant False BRF1@p.D453H 1 0.114285714 ENSG00000185024 chr14:105220089-105220089;C/G missense_variant False BRDT@p.L607R 1 0.188679245 ENSG00000137948 chr1:91981337-91981337;T/G missense_variant False BRD9@p.R545W 1 0.45751634 ENSG00000028310 chr5:865474-865474;G/A missense_variant False BRDT@p.I522R 1 0.5 ENSG00000137948 chr1:91980993-91980993;T/G missense_variant False BRDT@p.H734Y 1 0.177570093 ENSG00000137948 chr1:91994167-91994167;C/T missense_variant False BRDT@p.G886E 1 0.623931624 ENSG00000137948 chr1:92005181-92005181;G/A missense_variant False BRDT@p.E504K 1 0.103092784 ENSG00000137948 chr1:91980938-91980938;G/A missense_variant False BRDT@p.E502D 1 0.125 ENSG00000137948 chr1:91980934-91980934;A/T missense_variant False BRDT@p.E137Q 1 0.382978723 ENSG00000137948 chr1:91968224-91968224;G/C missense_variant False BRF1@p.Y161N 1 0.166666667 ENSG00000185024 chr14:105252570-105252570;A/T missense_variant False BRF2@p.P261S 1 0.812154696 ENSG00000104221 chr8:37844969-37844969;G/A missense_variant False BRF2@p.R400_D401insLSS 1 0.148148148 ENSG00000104221 chr8:37844549-37844550;-/AGATGAAAG inframe_insertion False BRI3BP@p.D246N 1 0.631578947 ENSG00000184992 chr12:125025410-125025410;G/A missense_variant False BRI3BP@p.R206Q 1 0.16 ENSG00000184992 chr12:125025291-125025291;G/A missense_variant False BRI3BP@p.S140F 1 0.47311828 ENSG00000184992 chr12:125025093-125025093;C/T missense_variant False BRI3BP@p.T198A 1 0.291666667 ENSG00000184992 chr12:125025266-125025266;A/G missense_variant False BRINP1@p.A163T 1 0.532467532 ENSG00000078725 chr9:119242139-119242139;C/T missense_variant False BRINP1@p.D480N 1 0.108695652 ENSG00000078725 chr9:119167932-119167932;C/T missense_variant False BRINP1@p.D701N 1 0.362318841 ENSG00000078725 chr9:119167269-119167269;C/T missense_variant False BRINP1@p.I548Kfs*16 1 0.333333333 ENSG00000078725 chr9:119167714-119167727;GCGCATCTGGCAGA/- frameshift_variant False BRINP1@p.K124N 1 0.138888889 ENSG00000078725 chr9:119248997-119248997;C/A missense_variant False BRINP1@p.L217F 1 0.107142857 ENSG00000078725 chr9:119238691-119238691;G/A missense_variant False BRINP1@p.V673G 1 0.128571429 ENSG00000078725 chr9:119167352-119167352;A/C missense_variant False BRINP1@p.W387C 1 0.2 ENSG00000078725 chr9:119168209-119168209;C/A missense_variant False BRINP2@p.A716V 1 0.215909091 ENSG00000198797 chr1:177281323-177281323;C/T missense_variant False BRINP2@p.D670N 1 0.293577982 ENSG00000198797 chr1:177281184-177281184;G/A missense_variant False BRDT@p.D680Y 1 0.545454545 ENSG00000137948 chr1:91991219-91991219;G/T missense_variant False BRD9@p.D347H 1 0.344444444 ENSG00000028310 chr5:881110-881110;C/G missense_variant False BRD2@p.N748S 1 0.215686275 ENSG00000204256 chr6:32980438-32980438;A/G missense_variant False BRD4@p.E1183K 1 0.559139785 ENSG00000141867 chr19:15239421-15239421;C/T missense_variant False BRD4@p.K346N 1 0.413333333 ENSG00000141867 chr19:15264578-15264578;C/G missense_variant False BRD4@p.F817C 1 0.133333333 ENSG00000141867 chr19:15244362-15244362;A/C missense_variant False BRD4@p.E914K 1 0.277777778 ENSG00000141867 chr19:15243329-15243329;C/T missense_variant False BRD4@p.E523K 1 0.21875 ENSG00000141867 chr19:15256248-15256248;C/T missense_variant False BRD4@p.E1266K 1 0.6 ENSG00000141867 chr19:15238967-15238967;C/T missense_variant False BRD4@p.E1238K 1 0.5 ENSG00000141867 chr19:15239129-15239129;C/T missense_variant False BRD4@p.E1113K 1 0.185185185 ENSG00000141867 chr19:15239767-15239767;C/T missense_variant False BRD8@p.S951C 1 0.611650485 ENSG00000112983 chr5:138152486-138152486;G/C missense_variant False BRD2@p.Y135C 1 0.462686567 ENSG00000204256 chr6:32975454-32975454;A/G missense_variant False BRD2@p.V189G 1 0.409090909 ENSG00000204256 chr6:32976125-32976125;T/G missense_variant False BRD2@p.S466F 1 0.157303371 ENSG00000204256 chr6:32977824-32977824;C/T missense_variant False BRD2@p.P58Lfs*28 1 0.169491525 ENSG00000204256 chr6:32974602-32974602;C/- frameshift_variant False BRD2@p.P299S 1 0.360169492 ENSG00000204256 chr6:32976631-32976631;C/T missense_variant False BRD2@p.P268T 1 0.424242424 ENSG00000204256 chr6:32976441-32976441;C/A missense_variant False BRD4@p.P759L 1 0.421052632 ENSG00000141867 chr19:15244536-15244536;G/A missense_variant False BRD4@p.Q123E 1 0.178082192 ENSG00000141867 chr19:15268961-15268961;G/C missense_variant False BRD4@p.R886Q 1 0.428571429 ENSG00000141867 chr19:15243412-15243412;C/T missense_variant False BRD4@p.S203L 1 0.435 ENSG00000141867 chr19:15265595-15265595;G/A missense_variant False BRD7@p.D425N 1 0.195121951 ENSG00000166164 chr16:50325806-50325806;C/T missense_variant False BRD7@p.E478Q 1 0.103773585 ENSG00000166164 chr16:50323598-50323598;C/G missense_variant False BRD7@p.P456A 1 0.105263158 ENSG00000166164 chr16:50323664-50323664;G/C missense_variant False BRD7@p.R551T 1 0.109756098 ENSG00000166164 chr16:50320352-50320352;C/G missense_variant False BRD7@p.S169C 1 0.228571429 ENSG00000166164 chr16:50350108-50350108;G/C missense_variant False BRD8@p.D868N 1 0.277227723 ENSG00000112983 chr5:138152736-138152736;C/T missense_variant False BRD8@p.E648K 1 0.369230769 ENSG00000112983 chr5:138163275-138163275;C/T missense_variant False BRD8@p.E87Q 1 0.189873418 ENSG00000112983 chr5:138171138-138171138;C/G missense_variant False BRD8@p.I618S 1 0.211055276 ENSG00000112983 chr5:138164106-138164106;A/C missense_variant False BRD8@p.R137T 1 0.714285714 ENSG00000112983 chr5:138170862-138170862;C/G missense_variant False BRD8@p.R831Q 1 0.419047619 ENSG00000112983 chr5:138160109-138160109;C/T missense_variant False BRD8@p.S374L 1 0.285714286 ENSG00000112983 chr5:138165985-138165985;G/A missense_variant False BRD8@p.S533I 1 0.597014925 ENSG00000112983 chr5:138164847-138164847;C/A missense_variant False C3AR1@p.S100C 1 0.407407407 ENSG00000171860 chr12:8059887-8059887;G/C missense_variant False C3AR1@p.S271N 1 0.433333333 ENSG00000171860 chr12:8059374-8059374;C/T missense_variant False ARHGEF18@p.Q109E 1 0.235294118 ENSG00000104880 chr19:7440427-7440427;C/G missense_variant False CAPRIN1@p.E315Q 1 0.306666667 ENSG00000135387 chr11:34083018-34083018;G/C missense_variant False CAPRIN2@p.G482E 1 0.049429658 ENSG00000110888 chr12:30728985-30728985;C/T missense_variant False CAPRIN2@p.E119K 1 0.427184466 ENSG00000110888 chr12:30753409-30753409;C/T missense_variant False CAPRIN1@p.S413C 1 0.357142857 ENSG00000135387 chr11:34089401-34089401;C/G missense_variant False CAPRIN1@p.M522V 1 0.243243243 ENSG00000135387 chr11:34091915-34091915;A/G missense_variant False CAPRIN1@p.M522I 1 0.5 ENSG00000135387 chr11:34091917-34091917;G/A missense_variant False CAPRIN1@p.L233V 1 0.242424242 ENSG00000135387 chr11:34079636-34079636;C/G missense_variant False CAPRIN1@p.E151K 1 0.5 ENSG00000135387 chr11:34076320-34076320;G/A missense_variant False CAPRIN2@p.K19N 1 0.617647059 ENSG00000110888 chr12:30753707-30753707;C/G missense_variant False CAPNS2@p.F223L 1 0.262672811 ENSG00000256812 chr16:55567425-55567425;C/G missense_variant False CAPN9@p.R226T 1 0.210784314 ENSG00000135773 chr1:230767681-230767681;G/C missense_variant False CAPN9@p.M688I 1 0.252747253 ENSG00000135773 chr1:230801587-230801587;G/T missense_variant False CAPN9@p.F600L 1 0.079787234 ENSG00000135773 chr1:230792858-230792858;C/G missense_variant False CAPN9@p.E430K 1 0.419642857 ENSG00000135773 chr1:230780515-230780515;G/A missense_variant False CAPN9@p.E218Q 1 0.20754717 ENSG00000135773 chr1:230767656-230767656;G/C missense_variant False CAPRIN2@p.G910C 1 0.498480243 ENSG00000110888 chr12:30710408-30710408;C/A missense_variant False CAPRIN2@p.K443I 1 0.044247788 ENSG00000110888 chr12:30729102-30729102;T/A missense_variant False CARMIL3@p.D889N 1 0.153846154 ENSG00000186648 chr14:24062805-24062805;G/A missense_variant False CAPSL@p.K16N 1 0.28 ENSG00000152611 chr5:35921073-35921073;C/G missense_variant False CAPZA2@p.G85Efs*17 1 0.456521739 ENSG00000198898 chr7:116904210-116904210;G/- frameshift_variant False CAPZA1@p.Q248E 1 0.126984127 ENSG00000116489 chr1:112670013-112670013;C/G missense_variant False CAPZA1@p.E176K 1 0.195121951 ENSG00000116489 chr1:112659720-112659720;G/A missense_variant False CAPZA1@p.D149N 1 0.090909091 ENSG00000116489 chr1:112659040-112659040;G/A missense_variant False CAPSL@p.M117L 1 0.069164265 ENSG00000152611 chr5:35910042-35910042;T/A missense_variant False CAPSL@p.K62E 1 0.141509434 ENSG00000152611 chr5:35910497-35910497;T/C missense_variant False CAPSL@p.E114Q 1 0.276699029 ENSG00000152611 chr5:35910051-35910051;C/G missense_variant False CAPRIN2@p.M710I 1 0.230769231 ENSG00000110888 chr12:30720829-30720829;C/A missense_variant False CAPSL@p.D24N 1 0.494505495 ENSG00000152611 chr5:35921051-35921051;C/T missense_variant False CAPS@p.G25S 1 0.275862069 ENSG00000105519 chr19:5914479-5914479;G/A missense_variant False CAPS2@p.S303L 1 0.245098039 ENSG00000180881 chr12:75299840-75299840;G/A missense_variant False CAPS2@p.H478N 1 0.081081081 ENSG00000180881 chr12:75289641-75289641;G/T missense_variant False CAPRIN2@p.S53L 1 0.490566038 ENSG00000110888 chr12:30753606-30753606;G/A missense_variant False CAPRIN2@p.Q626E 1 0.393258427 ENSG00000110888 chr12:30725995-30725995;G/C missense_variant False CAPN9@p.D291H 1 0.222222222 ENSG00000135773 chr1:230772095-230772095;G/C missense_variant False CAPN7@p.H482Y 1 0.220472441 ENSG00000131375 chr3:15240509-15240509;C/T missense_variant False CAPN6@p.T361I 1 0.485380117 ENSG00000077274 chrX:111250993-111250993;G/A missense_variant False CAPN11@p.E590K 1 0.234375 ENSG00000137225 chr6:44180769-44180769;G/A missense_variant False CAPN13@p.Q322H 1 0.557377049 ENSG00000162949 chr2:30753174-30753174;C/A missense_variant False CAPN13@p.Q318E 1 0.337662338 ENSG00000162949 chr2:30753188-30753188;G/C missense_variant False CAPN13@p.N383Mfs*15 1 0.137254902 ENSG00000162949 chr2:30751193-30751193;G/- frameshift_variant False CAPN13@p.E639K 1 0.170731707 ENSG00000162949 chr2:30732450-30732450;C/T missense_variant False CAPN12@p.F632L 1 0.433333333 ENSG00000182472 chr19:38733764-38733764;G/C missense_variant False CAPN11@p.Q464H 1 0.333333333 ENSG00000137225 chr6:44177396-44177396;G/T missense_variant False CAPN10@p.Q141H 1 0.489361702 ENSG00000142330 chr2:240590964-240590964;G/C missense_variant False CAPN6@p.E424Q 1 0.340909091 ENSG00000077274 chrX:111248946-111248946;C/G missense_variant False CAPN10@p.D402N 1 0.454545455 ENSG00000142330 chr2:240595230-240595230;G/A missense_variant False CAP2@p.S312F 1 0.178571429 ENSG00000112186 chr6:17541081-17541081;C/T missense_variant False CAP2@p.E47G 1 0.373626374 ENSG00000112186 chr6:17426608-17426608;A/G missense_variant False CAP1@p.Y43C 1 0.428571429 ENSG00000131236 chr1:40060082-40060082;A/G missense_variant False CAP1@p.S434F 1 0.050980392 ENSG00000131236 chr1:40070936-40070936;C/T missense_variant False CAP1@p.M437I 1 0.200956938 ENSG00000131236 chr1:40070946-40070946;G/C missense_variant False CAPN15@p.E288K 1 0.142857143 ENSG00000103326 chr16:547700-547700;G/A missense_variant False CAPN15@p.G1015del 1 0.210526316 ENSG00000103326 chr16:552999-553001;GCG/- inframe_deletion False CAPN15@p.P88R 1 0.294117647 ENSG00000103326 chr16:547101-547101;C/G missense_variant False CAPN1@p.M635I 1 0.15 ENSG00000014216 chr11:65210059-65210059;G/C missense_variant False CAPN2@p.D400N 1 0.303030303 ENSG00000162909 chr1:223755542-223755542;G/A missense_variant False CAPN2@p.E172K 1 0.37037037 ENSG00000162909 chr1:223745393-223745393;G/A missense_variant False CAPN2@p.S369F 1 0.211538462 ENSG00000162909 chr1:223752927-223752927;C/T missense_variant False CAPN3@p.D671N 1 0.476351351 ENSG00000092529 chr15:42409805-42409805;G/A missense_variant False CAPN3@p.D764H 1 0.287671233 ENSG00000092529 chr15:42410910-42410910;G/C missense_variant False CAPN3@p.K517N 1 0.333333333 ENSG00000092529 chr15:42402808-42402808;G/C missense_variant False CAPN3@p.L140P 1 0.212121212 ENSG00000092529 chr15:42386206-42386206;T/C missense_variant False CAPN3@p.Q518K 1 0.325581395 ENSG00000092529 chr15:42402809-42402809;C/A missense_variant False CAPN3@p.S337F 1 0.19047619 ENSG00000092529 chr15:42392703-42392703;C/T missense_variant False CAPN5@p.S14L 1 0.260869565 ENSG00000149260 chr11:77084927-77084927;C/T missense_variant False CAPN5@p.S494L 1 0.087912088 ENSG00000149260 chr11:77120783-77120783;C/T missense_variant False CAPN5@p.Y294C 1 0.344827586 ENSG00000149260 chr11:77115456-77115456;A/G missense_variant False CAPN6@p.D607G 1 0.863636364 ENSG00000077274 chrX:111246683-111246683;T/C missense_variant False CAPZA2@p.K91N 1 0.296875 ENSG00000198898 chr7:116904230-116904230;G/T missense_variant False CAPZA3@p.R16C 1 0.426666667 ENSG00000177938 chr12:18738314-18738314;C/T missense_variant False CAPZB@p.I231M 1 0.24137931 ENSG00000077549 chr1:19344396-19344396;G/C missense_variant False CARM1@p.E142K 1 0.390625 ENSG00000142453 chr19:10908116-10908116;G/A missense_variant False CARMIL1@p.E1367Q 1 0.1125 ENSG00000079691 chr6:25619566-25619566;G/C missense_variant False CARMIL1@p.E1363K 1 0.581395349 ENSG00000079691 chr6:25619554-25619554;G/A missense_variant False CARM1@p.S528C 1 0.208955224 ENSG00000142453 chr19:10921095-10921095;C/G missense_variant False CARM1@p.L520F 1 0.444444444 ENSG00000142453 chr19:10921072-10921072;G/C missense_variant False CARM1@p.H532N 1 0.117647059 ENSG00000142453 chr19:10921106-10921106;C/A missense_variant False CARM1@p.F183L 1 0.487804878 ENSG00000142453 chr19:10909198-10909198;C/G missense_variant False CARF@p.S723C 1 0.096153846 ENSG00000138380 chr2:202983614-202983614;C/G missense_variant False CARF@p.D639H 1 0.254901961 ENSG00000138380 chr2:202982297-202982297;G/C missense_variant False CARF@p.R292K 1 0.319148936 ENSG00000138380 chr2:202967020-202967020;G/A missense_variant False CARF@p.Q61H 1 0.615384615 ENSG00000138380 chr2:202942844-202942844;G/C missense_variant False CARF@p.P328S 1 0.851851852 ENSG00000138380 chr2:202969947-202969947;C/T missense_variant False CARF@p.K181E 1 0.4 ENSG00000138380 chr2:202954118-202954118;A/G missense_variant False CARF@p.H665N 1 0.872340426 ENSG00000138380 chr2:202982375-202982375;C/A missense_variant False CARF@p.E650Q 1 0.169811321 ENSG00000138380 chr2:202982330-202982330;G/C missense_variant False CARMIL1@p.E948K 1 0.081081081 ENSG00000079691 chr6:25581275-25581275;G/A missense_variant False CARMIL1@p.G750C 1 0.170731707 ENSG00000079691 chr6:25539998-25539998;G/T missense_variant False CARMIL1@p.G750V 1 0.170731707 ENSG00000079691 chr6:25539999-25539999;G/T missense_variant False CARMIL1@p.H925R 1 0.285714286 ENSG00000079691 chr6:25580955-25580955;A/G missense_variant False CARMIL1@p.N820Kfs*10 1 0.253968254 ENSG00000079691 chr6:25551035-25551036;-/A frameshift_variant False CARMIL1@p.P1273L 1 0.264705882 ENSG00000079691 chr6:25606244-25606244;C/T missense_variant False CARMIL1@p.Q161E 1 0.2 ENSG00000079691 chr6:25450350-25450350;C/G missense_variant False CARMIL1@p.R966W 1 0.772727273 ENSG00000079691 chr6:25581329-25581329;C/T missense_variant False CARMIL1@p.S432L 1 0.117647059 ENSG00000079691 chr6:25495185-25495185;C/T missense_variant False CARMIL2@p.E915K 1 0.314285714 ENSG00000159753 chr16:67652265-67652265;G/A missense_variant False CARMIL2@p.I775Hfs*4 1 0.258064516 ENSG00000159753 chr16:67651405-67651406;-/C frameshift_variant False CARMIL2@p.L539V 1 0.363636364 ENSG00000159753 chr16:67649099-67649099;C/G missense_variant False CARMIL2@p.P1089A 1 0.777777778 ENSG00000159753 chr16:67654375-67654375;C/G missense_variant False CARMIL2@p.Q313H 1 0.235294118 ENSG00000159753 chr16:67647747-67647747;G/C missense_variant False CARMIL2@p.R50K 1 0.514705882 ENSG00000159753 chr16:67645740-67645740;G/A missense_variant False CARMIL2@p.R50T 1 0.101010101 ENSG00000159753 chr16:67645740-67645740;G/C missense_variant False CARMIL2@p.R593W 1 0.145454545 ENSG00000159753 chr16:67649477-67649477;C/T missense_variant False CARF@p.E110K 1 0.238938053 ENSG00000138380 chr2:202952580-202952580;G/A missense_variant False CARF@p.D487N 1 0.271186441 ENSG00000138380 chr2:202974461-202974461;G/A missense_variant False CARD10@p.I600V 1 0.1 ENSG00000100065 chr22:37497168-37497168;T/C missense_variant False CARD11@p.G526R 1 0.15 ENSG00000198286 chr7:2930069-2930069;C/T missense_variant True CARD14@p.I86Sfs*7 1 0.275862069 ENSG00000141527 chr17:80182695-80182695;C/- frameshift_variant False CARD14@p.G648S 1 0.368421053 ENSG00000141527 chr17:80201834-80201834;G/A missense_variant False CARD14@p.E391K 1 0.292307692 ENSG00000141527 chr17:80191404-80191404;G/A missense_variant False CARD11@p.R1027Q 1 0.25 ENSG00000198286 chr7:2912236-2912236;C/T missense_variant True CARD11@p.M220I 1 0.230769231 ENSG00000198286 chr7:2944236-2944236;C/T missense_variant True CARD11@p.K909N 1 0.101851852 ENSG00000198286 chr7:2915349-2915349;C/G missense_variant True CARD11@p.E18K 1 0.216216216 ENSG00000198286 chr7:2947743-2947743;C/T missense_variant True CARD9@p.E45K 1 0.15 ENSG00000289701 chr9:136371946-136371946;C/T missense_variant False CARD11@p.E1094K 1 0.210526316 ENSG00000198286 chr7:2906823-2906823;C/T missense_variant True CARD11@p.D597N 1 0.25 ENSG00000198286 chr7:2926757-2926757;C/T missense_variant True CARD11@p.D315G 1 0.346938776 ENSG00000198286 chr7:2938752-2938752;T/C missense_variant True CARD10@p.R587W 1 0.237288136 ENSG00000100065 chr22:37502630-37502630;G/A missense_variant False CARD10@p.R37W 1 0.538461538 ENSG00000100065 chr22:37519092-37519092;G/A missense_variant False CARD10@p.N935K 1 0.125 ENSG00000100065 chr22:37491814-37491814;G/C missense_variant False CARD14@p.K415E 1 0.358490566 ENSG00000141527 chr17:80192506-80192506;A/G missense_variant False CARD14@p.R426L 1 0.097222222 ENSG00000141527 chr17:80192540-80192540;G/T missense_variant False CARD14@p.V432L 1 0.238095238 ENSG00000141527 chr17:80192557-80192557;G/T missense_variant False CARD16@p.H174R 1 0.38372093 ENSG00000204397 chr11:105041473-105041473;T/C missense_variant False CARD16@p.S90L 1 0.271794872 ENSG00000204397 chr11:105044397-105044397;G/A missense_variant False CARD17@p.M51I 1 0.166666667 None chr11:105100634-105100634;C/T missense_variant False CARD18@p.P81R 1 0.367346939 ENSG00000255501 chr11:105138844-105138844;G/C missense_variant False CARD6@p.E14K 1 0.230769231 ENSG00000132357 chr5:40841422-40841422;G/A missense_variant False CARD6@p.E41K 1 0.475862069 ENSG00000132357 chr5:40841503-40841503;G/A missense_variant False CARD6@p.G544C 1 0.168141593 ENSG00000132357 chr5:40852962-40852962;G/T missense_variant False CARD6@p.L350M 1 0.173913043 ENSG00000132357 chr5:40852380-40852380;C/A missense_variant False CARD6@p.L718V 1 0.279141104 ENSG00000132357 chr5:40853484-40853484;C/G missense_variant False CARD6@p.Q594E 1 0.140350877 ENSG00000132357 chr5:40853112-40853112;C/G missense_variant False CARD6@p.R807W 1 0.218527316 ENSG00000132357 chr5:40853751-40853751;C/T missense_variant False CARD8@p.G166E 1 0.465116279 ENSG00000105483 chr19:48231705-48231705;C/T missense_variant False CARD8@p.L532F 1 0.339622642 ENSG00000105483 chr19:48211730-48211730;G/A missense_variant False CARD8@p.P281S 1 0.12 ENSG00000105483 chr19:48230632-48230632;G/A missense_variant False CAP1@p.K121N 1 0.551401869 ENSG00000131236 chr1:40064295-40064295;G/C missense_variant False CAP1@p.H23Y 1 0.212121212 ENSG00000131236 chr1:40059413-40059413;C/T missense_variant False CAP1@p.F457L 1 0.59375 ENSG00000131236 chr1:40071476-40071476;C/G missense_variant False CAMK2B@p.A190S 1 0.133333333 ENSG00000058404 chr7:44243283-44243283;C/A missense_variant False CAMK2D@p.E100K 1 0.368421053 ENSG00000145349 chr4:113552074-113552074;C/T missense_variant False CAMK2D@p.D325N 1 0.196721311 ENSG00000145349 chr4:113509649-113509649;C/T missense_variant False CAMK2B@p.S461L 1 0.461538462 ENSG00000058404 chr7:44228882-44228882;G/A missense_variant False CAMK2B@p.P664L 1 0.16 ENSG00000058404 chr7:44220072-44220072;G/A missense_variant False CAMK2B@p.E237K 1 0.115151515 ENSG00000058404 chr7:44242328-44242328;C/T missense_variant False CAMK2B@p.E100Q 1 0.191489362 ENSG00000058404 chr7:44254585-44254585;C/G missense_variant False CAMK2A@p.S331L 1 0.277777778 ENSG00000070808 chr5:150238741-150238741;G/A missense_variant False CAMK1D@p.A236V 1 0.109090909 ENSG00000183049 chr10:12814260-12814260;C/T missense_variant False CAMK2A@p.F16L 1 0.210526316 ENSG00000070808 chr5:150289578-150289578;G/C missense_variant False CAMK2A@p.E17Q 1 0.128571429 ENSG00000070808 chr5:150289577-150289577;C/G missense_variant False CAMK1G@p.I86V 1 0.294117647 ENSG00000008118 chr1:209603248-209603248;A/G missense_variant False CAMK1G@p.I54M 1 0.092592593 ENSG00000008118 chr1:209600052-209600052;C/G missense_variant False CAMK1G@p.E222K 1 0.282608696 ENSG00000008118 chr1:209609008-209609008;G/A missense_variant False CAMK1D@p.R257Q 1 0.352112676 ENSG00000183049 chr10:12816265-12816265;G/A missense_variant False CAMK2D@p.E341K 1 0.173913043 ENSG00000145349 chr4:113500475-113500475;C/T missense_variant False CAMK2D@p.R297T 1 0.105263158 ENSG00000145349 chr4:113513843-113513843;C/G missense_variant False CAMK2G@p.F294L 1 0.451612903 ENSG00000148660 chr10:73842479-73842479;G/C missense_variant False CAMK2G@p.I117V 1 0.321428571 ENSG00000148660 chr10:73849326-73849326;T/C missense_variant False CAMK2G@p.P213A 1 0.329787234 ENSG00000148660 chr10:73848047-73848047;G/C missense_variant False CAMK4@p.A386T 1 0.419354839 ENSG00000152495 chr5:111484200-111484200;G/A missense_variant False CAMK4@p.D35Y 1 0.216216216 ENSG00000152495 chr5:111224586-111224586;G/T missense_variant False CAMK4@p.R95C 1 0.183673469 ENSG00000152495 chr5:111374892-111374892;C/T missense_variant False CAMK4@p.S43R 1 0.421052632 ENSG00000152495 chr5:111224610-111224610;A/C missense_variant False CAMKK1@p.S475F 1 0.396551724 ENSG00000004660 chr17:3865929-3865929;G/A missense_variant False CAMKK2@p.E465K 1 0.104166667 ENSG00000110931 chr12:121248665-121248665;C/T missense_variant False CAMKK2@p.R139G 1 0.3 ENSG00000110931 chr12:121274112-121274112;G/C missense_variant False CAMKV@p.D228H 1 0.205607477 ENSG00000164076 chr3:49860809-49860809;C/G missense_variant False CAMKV@p.D228N 1 0.365384615 ENSG00000164076 chr3:49860809-49860809;C/T missense_variant False CAMKV@p.I97M 1 0.186046512 ENSG00000164076 chr3:49861802-49861802;G/C missense_variant False CAMLG@p.E12D 1 0.466666667 ENSG00000164615 chr5:134738656-134738656;G/C missense_variant False CAMLG@p.E2Q 1 0.19047619 ENSG00000164615 chr5:134738624-134738624;G/C missense_variant False CAMK1D@p.E148K 1 0.467741935 ENSG00000183049 chr10:12769676-12769676;G/A missense_variant False CAMK1@p.V356M 1 0.896551724 ENSG00000134072 chr3:9757586-9757586;C/T missense_variant False CAMP@p.K133E 1 0.336492891 ENSG00000164047 chr3:48225299-48225299;A/G missense_variant False CALD1@p.S665L 1 0.392 ENSG00000122786 chr7:134958223-134958223;C/T missense_variant False CALHM4@p.R247S 1 0.318965517 ENSG00000164451 chr6:116558005-116558005;C/A missense_variant False CALHM4@p.D274N 1 0.347305389 ENSG00000164451 chr6:116558086-116558086;G/A missense_variant False CALHM2@p.W80* 1 0.1953125 ENSG00000138172 chr10:103449702-103449702;C/- frameshift_variant False CALHM2@p.S139F 1 0.333333333 ENSG00000138172 chr10:103449526-103449526;G/A missense_variant False CALHM2@p.E261K 1 0.162790698 ENSG00000138172 chr10:103447343-103447343;C/T missense_variant False CALHM1@p.R173Q 1 0.391304348 ENSG00000185933 chr10:103458234-103458234;C/T missense_variant False CALD1@p.R8T 1 0.193548387 ENSG00000122786 chr7:134867756-134867756;G/C missense_variant False CAMK1@p.V174Afs*14 1 0.12745098 ENSG00000134072 chr3:9761665-9761666;CA/- frameshift_variant False CALD1@p.R107C 1 0.444444444 ENSG00000122786 chr7:134933088-134933088;C/T missense_variant False CALD1@p.R106T 1 0.174603175 ENSG00000122786 chr7:134933086-134933086;G/C missense_variant False CALD1@p.M622I 1 0.074626866 ENSG00000122786 chr7:134950445-134950445;G/A missense_variant False CALD1@p.E680K 1 0.53968254 ENSG00000122786 chr7:134958267-134958267;G/A missense_variant False CALD1@p.E497K 1 0.53125 ENSG00000122786 chr7:134941194-134941194;G/A missense_variant False CALD1@p.E407G 1 0.142857143 ENSG00000122786 chr7:134933989-134933989;A/G missense_variant False CALHM5@p.E169K 1 0.288461538 ENSG00000178033 chr6:116512201-116512201;G/A missense_variant False CALHM5@p.E267Q 1 0.441860465 ENSG00000178033 chr6:116515858-116515858;G/C missense_variant False CALM1@p.K31E 1 0.662790698 ENSG00000198668 chr14:90401315-90401315;A/G missense_variant False CALM1@p.R107del 1 0.184615385 ENSG00000198668 chr14:90404412-90404414;CGT/- inframe_deletion False CALM2@p.Q9H 1 0.151898734 ENSG00000143933 chr2:47170741-47170741;C/G missense_variant False CALML3@p.E124K 1 0.244897959 ENSG00000178363 chr10:5525455-5525455;G/A missense_variant False CALML6@p.A139S 1 0.3125 ENSG00000169885 chr1:1916990-1916990;G/T missense_variant False CALML6@p.R117H 1 0.417721519 ENSG00000169885 chr1:1916848-1916848;G/A missense_variant False CALN1@p.L48V 1 0.177419355 ENSG00000183166 chr7:72106271-72106271;G/C missense_variant False CALN1@p.R42Q 1 0.37254902 ENSG00000183166 chr7:72106288-72106288;C/T missense_variant False CALR3@p.D321N 1 0.260869565 ENSG00000269058 chr19:16480664-16480664;C/T missense_variant False CALU@p.D246N 1 0.174311927 ENSG00000128595 chr7:128767548-128767548;G/A missense_variant False CALU@p.H30P 1 0.282828283 ENSG00000128595 chr7:128748672-128748672;A/C missense_variant False CALY@p.G149V 1 0.4 ENSG00000130643 chr10:133326035-133326035;C/A missense_variant False CAMK1@p.E154K 1 0.315068493 ENSG00000134072 chr3:9761727-9761727;C/T missense_variant False CAMK1@p.F307L 1 0.406779661 ENSG00000134072 chr3:9757838-9757838;G/C missense_variant False CAMK1@p.I158M 1 0.285714286 ENSG00000134072 chr3:9761713-9761713;G/C missense_variant False CAMLG@p.E60Vfs*13 1 0.357142857 ENSG00000164615 chr5:134741066-134741069;AAGA/- frameshift_variant False CAMSAP1@p.A469V 1 0.432432432 ENSG00000130559 chr9:135823255-135823255;G/A missense_variant False CAP1@p.D277H 1 0.244791667 ENSG00000131236 chr1:40069710-40069710;G/C missense_variant False CAMTA2@p.E810K 1 0.213903743 ENSG00000108509 chr17:4972844-4972844;C/T missense_variant False CAMTA2@p.Q647H 1 0.142857143 ENSG00000108509 chr17:4974460-4974460;C/G missense_variant False CAMTA2@p.P556S 1 0.328767123 ENSG00000108509 chr17:4978603-4978603;G/A missense_variant False CAMTA2@p.P519S 1 0.285714286 ENSG00000108509 chr17:4979767-4979767;G/A missense_variant False CAMTA2@p.F755L 1 0.426829268 ENSG00000108509 chr17:4973190-4973190;G/T missense_variant False CAMTA2@p.E980Q 1 0.117977528 ENSG00000108509 chr17:4970407-4970407;C/G missense_variant False CAMTA2@p.E810Q 1 0.235555556 ENSG00000108509 chr17:4972844-4972844;C/G missense_variant False CAMTA2@p.E363G 1 0.5 ENSG00000108509 chr17:4980234-4980234;T/C missense_variant False CAMTA1@p.I51M 1 0.208955224 ENSG00000171735 chr1:6825129-6825129;C/G missense_variant False CAMTA2@p.D667N 1 0.176470588 ENSG00000108509 chr17:4974402-4974402;C/T missense_variant False CAMTA1@p.Y1538C 1 0.255555556 ENSG00000171735 chr1:7746087-7746087;A/G missense_variant False CAMTA1@p.V740M 1 0.427272727 ENSG00000171735 chr1:7664765-7664765;G/A missense_variant False CAMTA1@p.T25Nfs*14 1 0.275862069 ENSG00000171735 chr1:6820209-6820213;CTAGC/- frameshift_variant False CAMTA1@p.T1619S 1 0.214876033 ENSG00000171735 chr1:7751364-7751364;A/T missense_variant False CAMTA1@p.S1323C 1 0.714285714 ENSG00000171735 chr1:7738268-7738268;C/G missense_variant False CAMTA2@p.R1178H 1 0.658823529 ENSG00000108509 chr17:4968919-4968919;C/T missense_variant False CAMTA2@p.S251F 1 0.245283019 ENSG00000108509 chr17:4980570-4980570;G/A missense_variant False CAMTA2@p.S841L 1 0.204081633 ENSG00000108509 chr17:4972518-4972518;G/A missense_variant False CAND1@p.C356R 1 0.151515152 ENSG00000111530 chr12:67302388-67302388;T/C missense_variant False CAND1@p.D19N 1 0.473684211 ENSG00000111530 chr12:67269772-67269772;G/A missense_variant False CAND1@p.E388Q 1 0.093959732 ENSG00000111530 chr12:67302484-67302484;G/C missense_variant False CAND1@p.I701T 1 0.194690265 ENSG00000111530 chr12:67305770-67305770;T/C missense_variant False CAND1@p.K80E 1 0.4 ENSG00000111530 chr12:67292647-67292647;A/G missense_variant False CAND1@p.L892V 1 0.113207547 ENSG00000111530 chr12:67306342-67306342;C/G missense_variant False CAND1@p.L96V 1 0.163265306 ENSG00000111530 chr12:67292695-67292695;C/G missense_variant False CAND1@p.R1042T 1 0.1625 ENSG00000111530 chr12:67310000-67310000;G/C missense_variant False CAND1@p.R194G 1 0.117117117 ENSG00000111530 chr12:67297495-67297495;A/G missense_variant False CAND1@p.S1204C 1 0.065934066 ENSG00000111530 chr12:67312748-67312748;C/G missense_variant False CAND2@p.E949K 1 0.622857143 ENSG00000144712 chr3:12817777-12817777;G/A missense_variant False CANX@p.D577G 1 0.325 ENSG00000127022 chr5:179728595-179728595;A/G missense_variant False CANX@p.K227N 1 0.173469388 ENSG00000127022 chr5:179710025-179710025;G/C missense_variant False CANX@p.S362L 1 0.29787234 ENSG00000127022 chr5:179720463-179720463;C/T missense_variant False CAMTA1@p.P359L 1 0.381578947 ENSG00000171735 chr1:7663623-7663623;C/T missense_variant False CAMTA1@p.H1237Y 1 0.609589041 ENSG00000171735 chr1:7738009-7738009;C/T missense_variant False CAMSAP1@p.A480T 1 0.137931034 ENSG00000130559 chr9:135823223-135823223;C/T missense_variant False CAMSAP2@p.A30Pfs*67 1 0.139534884 ENSG00000118200 chr1:200739913-200739934;GGGCCAAAATCGCCTGCAATCT/- frameshift_variant False CAMSAP2@p.I593M 1 0.205357143 ENSG00000118200 chr1:200848515-200848515;C/G missense_variant False CAMSAP2@p.E1069K 1 0.273684211 ENSG00000118200 chr1:200849941-200849941;G/A missense_variant False CAMSAP2@p.D660E 1 0.43697479 ENSG00000118200 chr1:200848716-200848716;T/G missense_variant False CAMSAP2@p.D642N 1 0.175257732 ENSG00000118200 chr1:200848660-200848660;G/A missense_variant False CAMSAP2@p.D1174H 1 0.033898305 ENSG00000118200 chr1:200852562-200852562;G/C missense_variant False CAMSAP2@p.D1145N 1 0.183098592 ENSG00000118200 chr1:200850169-200850169;G/A missense_variant False CAMSAP1@p.P360R 1 0.368421053 ENSG00000130559 chr9:135827551-135827551;G/C missense_variant False CAMTA1@p.G708V 1 0.097222222 ENSG00000171735 chr1:7664670-7664670;G/T missense_variant False CAMSAP1@p.P1244A 1 0.212121212 ENSG00000130559 chr9:135820931-135820931;G/C missense_variant False CAMSAP1@p.L283V 1 0.205128205 ENSG00000130559 chr9:135850423-135850423;G/C missense_variant False CAMSAP1@p.G1094S 1 0.833333333 ENSG00000130559 chr9:135821381-135821381;C/T missense_variant False CAMSAP1@p.E977D 1 0.196721311 ENSG00000130559 chr9:135821730-135821730;C/A missense_variant False CAMSAP1@p.E291K 1 0.663043478 ENSG00000130559 chr9:135850399-135850399;C/T missense_variant False CAMSAP1@p.A904V 1 0.360294118 ENSG00000130559 chr9:135821950-135821950;G/A missense_variant False CAMSAP2@p.K1306N 1 0.098360656 ENSG00000118200 chr1:200854878-200854878;G/C missense_variant False CAMSAP2@p.K771N 1 0.166666667 ENSG00000118200 chr1:200849049-200849049;G/C missense_variant False CAMSAP2@p.L277F 1 0.243243243 ENSG00000118200 chr1:200832716-200832716;G/C missense_variant False CAMSAP2@p.M10I 1 0.363636364 ENSG00000118200 chr1:200739857-200739857;G/C missense_variant False CAMSAP2@p.M1237V 1 0.109375 ENSG00000118200 chr1:200853348-200853348;A/G missense_variant False CAMSAP2@p.N884Efs*4 1 0.308943089 ENSG00000118200 chr1:200849385-200849391;AAATGAA/- frameshift_variant False CAMSAP3@p.D480N 1 0.256756757 ENSG00000076826 chr19:7611931-7611931;G/A missense_variant False CAMSAP3@p.E1181K 1 0.268292683 ENSG00000076826 chr19:7617848-7617848;G/A missense_variant False CAMSAP3@p.P282L 1 0.288 ENSG00000076826 chr19:7610560-7610560;C/T missense_variant False CAMSAP3@p.R336Gfs*42 1 0.265625 ENSG00000076826 chr19:7610883-7610883;C/- frameshift_variant False CAMSAP3@p.S363F 1 0.121212121 ENSG00000076826 chr19:7611133-7611133;C/T missense_variant False CAMSAP3@p.S376F 1 0.375 ENSG00000076826 chr19:7611520-7611520;C/T missense_variant False CAMSAP3@p.S402C 1 0.166666667 ENSG00000076826 chr19:7611698-7611698;C/G missense_variant False CAMTA1@p.A1401Kfs*32 1 0.229166667 ENSG00000171735 chr1:7744850-7744865;TTGGCAGAACACATTA/- frameshift_variant False CAMTA1@p.E1164Q 1 0.147727273 ENSG00000171735 chr1:7737402-7737402;G/C missense_variant False CAMTA1@p.F1253L 1 0.212121212 ENSG00000171735 chr1:7738059-7738059;C/G missense_variant False CAMTA1@p.G1672V 1 0.288888889 ENSG00000171735 chr1:7766484-7766484;G/T missense_variant False CARMIL2@p.S637W 1 0.666666667 ENSG00000159753 chr16:67649610-67649610;C/G missense_variant False CARMIL3@p.E801Q 1 0.126984127 ENSG00000186648 chr14:24061593-24061593;G/C missense_variant False CALD1@p.E362K 1 0.5 ENSG00000122786 chr7:134933853-134933853;G/A missense_variant False CATSPERG@p.G1122R 1 0.2 ENSG00000099338 chr19:38370676-38370676;G/A missense_variant False CAVIN1@p.D349N 1 0.139534884 ENSG00000177469 chr17:42404815-42404815;C/T missense_variant False CAV3@p.E4K 1 0.208333333 ENSG00000182533 chr3:8733886-8733886;G/A missense_variant False CATSPERG@p.V434A 1 0.427135678 ENSG00000099338 chr19:38356847-38356847;T/C missense_variant False CATSPERG@p.M1134L 1 0.111111111 ENSG00000099338 chr19:38370712-38370712;A/T missense_variant False CATSPERG@p.L612V 1 0.351351351 ENSG00000099338 chr19:38360797-38360797;C/G missense_variant False CATSPERG@p.I491M 1 0.3 ENSG00000099338 chr19:38358538-38358538;C/G missense_variant False CATSPERG@p.E749Q 1 0.4 ENSG00000099338 chr19:38362463-38362463;G/C missense_variant False CAVIN1@p.R267Q 1 0.636363636 ENSG00000177469 chr17:42405060-42405060;C/T missense_variant False CATSPERG@p.E609K 1 0.277777778 ENSG00000099338 chr19:38360788-38360788;G/A missense_variant False CATSPERE@p.K629Q 1 0.407407407 ENSG00000179397 chr1:244572707-244572707;A/C missense_variant False CATSPERE@p.K267R 1 0.481818182 ENSG00000179397 chr1:244552585-244552585;A/G missense_variant False CATSPERE@p.F543L 1 0.226190476 ENSG00000179397 chr1:244572451-244572451;C/G missense_variant False CATSPERD@p.T632N 1 0.076923077 ENSG00000174898 chr19:5772919-5772919;C/A missense_variant False CATSPERD@p.Q568E 1 0.203125 ENSG00000174898 chr19:5771011-5771011;C/G missense_variant False CAVIN1@p.E330K 1 0.223880597 ENSG00000177469 chr17:42404872-42404872;C/T missense_variant False CAVIN1@p.R310Lfs*114 1 0.169811321 ENSG00000177469 chr17:42404930-42404931;GC/- frameshift_variant False CARMIL3@p.E844K 1 0.278571429 ENSG00000186648 chr14:24062529-24062529;G/A missense_variant False CAVIN2@p.G285Efs*90 1 0.254117647 ENSG00000168497 chr2:191836347-191836347;C/- frameshift_variant False CBARP@p.E135K 1 0.32 ENSG00000099625 chr19:1235035-1235035;C/T missense_variant False CBARP@p.A402S 1 0.56097561 ENSG00000099625 chr19:1231111-1231111;C/A missense_variant False CAVIN4@p.R272H 1 0.208955224 ENSG00000170681 chr9:100586171-100586171;G/A missense_variant False CAVIN2@p.S24L 1 0.256410256 ENSG00000168497 chr2:191846855-191846855;G/A missense_variant False CAVIN2@p.K272N 1 0.333965844 ENSG00000168497 chr2:191836385-191836385;C/G missense_variant False CAVIN2@p.K237N 1 0.06884058 ENSG00000168497 chr2:191836490-191836490;C/G missense_variant False CAVIN2@p.E407Q 1 0.267857143 ENSG00000168497 chr2:191835982-191835982;C/G missense_variant False CAVIN1@p.R329H 1 0.25 ENSG00000177469 chr17:42404874-42404874;C/T missense_variant False CAVIN2@p.E3Q 1 0.225352113 ENSG00000168497 chr2:191846919-191846919;C/G missense_variant False CAVIN2@p.E252K 1 0.306397306 ENSG00000168497 chr2:191836447-191836447;C/T missense_variant False CAVIN2@p.D317H 1 0.360189573 ENSG00000168497 chr2:191836252-191836252;C/G missense_variant False CAVIN2@p.D133H 1 0.1 ENSG00000168497 chr2:191846529-191846529;C/G missense_variant False CAVIN2@p.A400T 1 0.311111111 ENSG00000168497 chr2:191836003-191836003;C/T missense_variant False CAVIN1@p.R362W 1 0.571428571 ENSG00000177469 chr17:42404776-42404776;G/A missense_variant False CATSPERD@p.I709M 1 0.2 ENSG00000174898 chr19:5778406-5778406;C/G missense_variant False CATSPERD@p.G735R 1 0.24 ENSG00000174898 chr19:5778482-5778482;G/A missense_variant False CATSPERD@p.F222L 1 0.170634921 ENSG00000174898 chr19:5745921-5745921;C/G missense_variant False CATSPER1@p.H272Y 1 0.285714286 ENSG00000175294 chr11:66025566-66025566;G/A missense_variant False CATSPER2@p.S134F 1 0.100840336 ENSG00000166762 chr15:43640484-43640484;G/A missense_variant False CATSPER2@p.Q345E 1 0.291666667 ENSG00000166762 chr15:43635815-43635815;G/C missense_variant False CATSPER2@p.E499Q 1 0.193548387 ENSG00000166762 chr15:43632259-43632259;C/G missense_variant False CATSPER1@p.T322S 1 0.153846154 ENSG00000175294 chr11:66025415-66025415;G/C missense_variant False CATSPER1@p.S25C 1 0.207100592 ENSG00000175294 chr11:66026306-66026306;G/C missense_variant False CATSPER1@p.R89K 1 0.510791367 ENSG00000175294 chr11:66026114-66026114;C/T missense_variant False CATSPER1@p.G170D 1 0.290322581 ENSG00000175294 chr11:66025871-66025871;C/T missense_variant False CATSPERD@p.D498N 1 0.175438596 ENSG00000174898 chr19:5763279-5763279;G/A missense_variant False CATSPER1@p.E733K 1 0.217391304 ENSG00000175294 chr11:66018831-66018831;C/T missense_variant False CATSPER1@p.E171K 1 0.285714286 ENSG00000175294 chr11:66025869-66025869;C/T missense_variant False CATIP@p.L213P 1 0.414893617 ENSG00000158428 chr2:218364635-218364635;T/C missense_variant False CAT@p.S276F 1 0.481481481 ENSG00000121691 chr11:34456126-34456126;C/T missense_variant False CAT@p.R47H 1 0.182795699 ENSG00000121691 chr11:34449265-34449265;G/A missense_variant False CAT@p.N369S 1 0.329113924 ENSG00000121691 chr11:34461300-34461300;A/G missense_variant False CATSPER2@p.S446C 1 0.142857143 ENSG00000166762 chr15:43632770-43632770;G/C missense_variant False CATSPER2@p.T258I 1 0.12962963 ENSG00000166762 chr15:43638973-43638973;G/A missense_variant False CATSPER3@p.G113V 1 0.209677419 ENSG00000152705 chr5:134996358-134996358;G/T missense_variant False CATSPER3@p.L331F 1 0.357798165 ENSG00000152705 chr5:135010429-135010429;G/C missense_variant False CATSPER4@p.R202W 1 0.217821782 ENSG00000188782 chr1:26198003-26198003;C/T missense_variant False CATSPER4@p.R395G 1 0.302631579 ENSG00000188782 chr1:26201025-26201025;C/G missense_variant False CATSPER4@p.T16I 1 0.380952381 ENSG00000188782 chr1:26190674-26190674;C/T missense_variant False CATSPERB@p.D290N 1 0.261363636 ENSG00000133962 chr14:91683940-91683940;C/T missense_variant False CATSPERB@p.E17Q 1 0.541666667 ENSG00000133962 chr14:91729431-91729431;C/G missense_variant False CATSPERB@p.E759K 1 0.47761194 ENSG00000133962 chr14:91617722-91617722;C/T missense_variant False CATSPERB@p.F198L 1 0.838983051 ENSG00000133962 chr14:91704574-91704574;G/C missense_variant False CATSPERB@p.F373L 1 0.234432234 ENSG00000133962 chr14:91672876-91672876;G/T missense_variant False CATSPERB@p.H1110Y 1 0.24742268 ENSG00000133962 chr14:91580912-91580912;G/A missense_variant False CATSPERB@p.L694V 1 0.269607843 ENSG00000133962 chr14:91621788-91621788;G/C missense_variant False CATSPERB@p.S384F 1 0.290909091 ENSG00000133962 chr14:91669950-91669950;G/A missense_variant False CATSPERB@p.S813C 1 0.224137931 ENSG00000133962 chr14:91610640-91610640;G/C missense_variant False CATSPERB@p.W297C 1 0.145454545 ENSG00000133962 chr14:91683917-91683917;C/G missense_variant False CBARP@p.V40A 1 0.078431373 ENSG00000099625 chr19:1235887-1235887;A/G missense_variant False CBFA2T2@p.D352H 1 0.263736264 ENSG00000078699 chr20:33628430-33628430;G/C missense_variant False CBFA2T2@p.E156Q 1 0.053030303 ENSG00000078699 chr20:33619535-33619535;G/C missense_variant False CBLN2@p.H127Q 1 0.128571429 ENSG00000141668 chr18:72538749-72538749;G/T missense_variant False CBR4@p.T183I 1 0.461538462 ENSG00000145439 chr4:168990316-168990316;G/A missense_variant False CBR3@p.F59L 1 0.351851852 ENSG00000159231 chr21:36135369-36135369;C/A missense_variant False CBR1@p.G266V 1 0.11627907 ENSG00000159228 chr21:36072845-36072845;G/T missense_variant False CBLN4@p.V25F 1 0.425 ENSG00000054803 chr20:56004099-56004099;C/A missense_variant False CBLN4@p.E85K 1 0.123529412 ENSG00000054803 chr20:56003919-56003919;C/T missense_variant False CBLN2@p.S109C 1 0.461538462 ENSG00000141668 chr18:72541836-72541836;T/A missense_variant False CBLN2@p.A172G 1 0.142857143 ENSG00000141668 chr18:72538336-72538336;G/C missense_variant False CBLL1@p.P223S 1 0.43575419 ENSG00000105879 chr7:107758369-107758369;C/T missense_variant False CBLL2@p.R136C 1 0.3 ENSG00000175809 chrX:22273397-22273397;C/T missense_variant False CBLL2@p.D40Y 1 0.305555556 ENSG00000175809 chrX:22273109-22273109;G/T missense_variant False CBLL2@p.C263Y 1 0.426666667 ENSG00000175809 chrX:22273779-22273779;G/A missense_variant False CBLL1@p.R83Q 1 0.384615385 ENSG00000105879 chr7:107753477-107753477;G/A missense_variant False CBLL1@p.R174K 1 0.235294118 ENSG00000105879 chr7:107758223-107758223;G/A missense_variant False CBLL1@p.P407T 1 0.452941176 ENSG00000105879 chr7:107758921-107758921;C/A missense_variant False CBS@p.E239K 1 0.109090909 ENSG00000160200 chr21:43065224-43065224;C/T missense_variant False CBWD1@p.E336K 1 0.179487179 None chr9:122036-122036;C/T missense_variant False CBWD1@p.L357M 1 0.396825397 None chr9:121973-121973;A/T missense_variant False CBWD2@p.D212N 1 0.297297297 None chr2:113462466-113462466;G/A missense_variant False CBWD2@p.E352K 1 0.20754717 None chr2:113495222-113495222;G/A missense_variant False CBWD2@p.H262Y 1 0.228571429 None chr2:113482196-113482196;C/T missense_variant False CBWD2@p.Q392E 1 0.070945946 None chr2:113495729-113495729;C/G missense_variant False CBWD3@p.E155K 1 0.098684211 None chr9:68256953-68256953;G/A missense_variant False CBWD5@p.K389R 1 0.160493827 ENSG00000147996 chr9:65733594-65733594;A/G missense_variant False CBX1@p.E120K 1 0.298969072 ENSG00000108468 chr17:48075061-48075061;C/T missense_variant False CBX1@p.G124A 1 0.512562814 ENSG00000108468 chr17:48075048-48075048;C/G missense_variant False CBX2@p.E138K 1 0.288461538 ENSG00000173894 chr17:79783855-79783855;G/A missense_variant False CBX3@p.E124K 1 0.333333333 ENSG00000122565 chr7:26211701-26211701;G/A missense_variant False CBX4@p.D544E 1 0.152173913 ENSG00000141582 chr17:79834010-79834010;G/C missense_variant False CBX4@p.E556K 1 0.22 ENSG00000141582 chr17:79833976-79833976;C/T missense_variant False CBX4@p.F554L 1 0.24 ENSG00000141582 chr17:79833980-79833980;G/T missense_variant False CBX4@p.P195A 1 0.139705882 ENSG00000141582 chr17:79835059-79835059;G/C missense_variant False CBLL1@p.P402T 1 0.442622951 ENSG00000105879 chr7:107758906-107758906;C/A missense_variant False CBLL1@p.I238M 1 0.057692308 ENSG00000105879 chr7:107758416-107758416;C/G missense_variant False CBFA2T2@p.E188K 1 0.583333333 ENSG00000078699 chr20:33623139-33623139;G/A missense_variant False CBFA2T3@p.A171V 1 0.205128205 ENSG00000129993 chr16:88892353-88892353;G/A missense_variant False CBL@p.I898L 1 0.399449036 ENSG00000110395 chr11:119299752-119299752;A/C missense_variant True CBFB@p.L171Q 1 0.327160494 ENSG00000067955 chr16:67082325-67082325;T/A missense_variant False CBFB@p.G105E 1 0.155555556 ENSG00000067955 chr16:67066713-67066713;G/A missense_variant False CBFA2T3@p.V203L 1 0.166666667 ENSG00000129993 chr16:88892258-88892258;C/G missense_variant False CBFA2T3@p.R368H 1 0.310344828 ENSG00000129993 chr16:88885060-88885060;C/T missense_variant False CBFA2T3@p.E523Q 1 0.52173913 ENSG00000129993 chr16:88879365-88879365;C/G missense_variant False CBFA2T2@p.S96C 1 0.089552239 ENSG00000078699 chr20:33611175-33611175;C/G missense_variant False CBLIF@p.S225R 1 0.411764706 ENSG00000134812 chr11:59841161-59841161;A/C missense_variant False CBFA2T2@p.R42K 1 0.123809524 ENSG00000078699 chr20:33607019-33607019;G/A missense_variant False CBFA2T2@p.R194W 1 0.1 ENSG00000078699 chr20:33623157-33623157;C/T missense_variant False CBFA2T2@p.R187Q 1 0.542857143 ENSG00000078699 chr20:33623137-33623137;G/A missense_variant False CBFA2T2@p.Q198H 1 0.211111111 ENSG00000078699 chr20:33623171-33623171;G/C missense_variant False CBFA2T2@p.L146F 1 0.092592593 ENSG00000078699 chr20:33611324-33611324;C/T missense_variant False CBFA2T2@p.L126V 1 0.206060606 ENSG00000078699 chr20:33611264-33611264;C/G missense_variant False CBL@p.M469I 1 0.278481013 ENSG00000110395 chr11:119278689-119278689;G/A missense_variant True CBL@p.R437I 1 0.305084746 ENSG00000110395 chr11:119278592-119278592;G/T missense_variant True CBL@p.R444S 1 0.258064516 ENSG00000110395 chr11:119278614-119278614;G/T missense_variant True CBL@p.S717L 1 0.363636364 ENSG00000110395 chr11:119297031-119297031;C/T missense_variant True CBL@p.S798Y 1 0.32 ENSG00000110395 chr11:119298499-119298499;C/A missense_variant True CBLB@p.D700N 1 0.23880597 ENSG00000114423 chr3:105685423-105685423;C/T missense_variant False CBLB@p.D76N 1 0.1 ENSG00000114423 chr3:105853607-105853607;C/T missense_variant False CBLB@p.D770H 1 0.231707317 ENSG00000114423 chr3:105681599-105681599;C/G missense_variant False CBLB@p.E326K 1 0.088235294 ENSG00000114423 chr3:105740501-105740501;C/T missense_variant False CBLB@p.E926K 1 0.069444444 ENSG00000114423 chr3:105659143-105659143;C/T missense_variant False CBLB@p.E926Q 1 0.135135135 ENSG00000114423 chr3:105659143-105659143;C/G missense_variant False CBLB@p.E942Q 1 0.095505618 ENSG00000114423 chr3:105659095-105659095;C/G missense_variant False CBLB@p.E969K 1 0.379746835 ENSG00000114423 chr3:105659014-105659014;C/T missense_variant False CBLB@p.L264F 1 0.283333333 ENSG00000114423 chr3:105745972-105745972;G/A missense_variant False CBLC@p.Q248E 1 0.35 ENSG00000142273 chr19:44782454-44782454;C/G missense_variant False CBLIF@p.E148Q 1 0.255813953 ENSG00000134812 chr11:59842512-59842512;C/G missense_variant False CBLIF@p.K258M 1 0.388059701 ENSG00000134812 chr11:59837272-59837272;T/A missense_variant False CAT@p.I493M 1 0.532846715 ENSG00000121691 chr11:34471002-34471002;C/G missense_variant False CAT@p.I463T 1 0.792792793 ENSG00000121691 chr11:34468349-34468349;T/C missense_variant False CAT@p.G465R 1 0.316831683 ENSG00000121691 chr11:34468354-34468354;G/C missense_variant False CASKIN2@p.P1039A 1 0.06043956 ENSG00000177303 chr17:75501959-75501959;G/C missense_variant False CASP1@p.E241K 1 0.140740741 ENSG00000137752 chr11:105029806-105029806;C/T missense_variant False CASP1@p.E223K 1 0.487603306 ENSG00000137752 chr11:105029860-105029860;C/T missense_variant False CASP14@p.R121Q 1 0.27826087 ENSG00000105141 chr19:15053917-15053917;G/A missense_variant False CASP10@p.T245R 1 0.387096774 ENSG00000003400 chr2:201205894-201205894;C/G missense_variant False CASKIN2@p.R304W 1 0.220338983 ENSG00000177303 chr17:75505577-75505577;G/A missense_variant False CASKIN2@p.R103H 1 0.275862069 ENSG00000177303 chr17:75507066-75507066;C/T missense_variant False CASKIN2@p.E737Q 1 0.142857143 ENSG00000177303 chr17:75502865-75502865;C/G missense_variant False CASK@p.Q407H 1 0.142857143 ENSG00000147044 chrX:41589527-41589527;C/G missense_variant False CASKIN2@p.E649K 1 0.333333333 ENSG00000177303 chr17:75503129-75503129;C/T missense_variant False CASKIN1@p.T512R 1 0.24137931 ENSG00000167971 chr16:2183740-2183740;G/C missense_variant False CASKIN1@p.R333L 1 0.558823529 ENSG00000167971 chr16:2186757-2186757;C/A missense_variant False CASKIN1@p.Q455K 1 0.361111111 ENSG00000167971 chr16:2184830-2184830;G/T missense_variant False CASKIN1@p.G212S 1 0.474576271 ENSG00000167971 chr16:2187445-2187445;C/T missense_variant False CASKIN1@p.E475Q 1 0.066666667 ENSG00000167971 chr16:2183935-2183935;C/G missense_variant False CASP1@p.E28K 1 0.307692308 ENSG00000137752 chr11:105034400-105034400;C/T missense_variant False CASP1@p.E39K 1 0.283653846 ENSG00000137752 chr11:105034367-105034367;C/T missense_variant False CASP1@p.G181E 1 0.638554217 ENSG00000137752 chr11:105030415-105030415;C/T missense_variant False CASP1@p.L57F 1 0.073770492 ENSG00000137752 chr11:105034311-105034311;C/G missense_variant False CASP1@p.S109C 1 0.112359551 ENSG00000137752 chr11:105033075-105033075;G/C missense_variant False CASP1@p.S110F 1 0.288135593 ENSG00000137752 chr11:105033072-105033072;G/A missense_variant False CASP1@p.T54A 1 0.5 ENSG00000137752 chr11:105034322-105034322;T/C missense_variant False CASP2@p.E253K 1 0.280701754 ENSG00000106144 chr7:143299932-143299932;G/A missense_variant False CASP2@p.M70I 1 0.508064516 ENSG00000106144 chr7:143291675-143291675;G/A missense_variant False CASP2@p.Q185E 1 0.206185567 ENSG00000106144 chr7:143294307-143294307;C/G missense_variant False CASP3@p.D180H 1 0.382352941 ENSG00000164305 chr4:184631103-184631103;C/G missense_variant False CASP3@p.E231Q 1 0.144736842 ENSG00000164305 chr4:184629415-184629415;C/G missense_variant False CASP4@p.D227N 1 0.242990654 ENSG00000196954 chr11:104949645-104949645;C/T missense_variant False CASP4@p.E351Q 1 0.171428571 ENSG00000196954 chr11:104944836-104944836;C/G missense_variant False CASP4@p.R55L 1 0.09009009 ENSG00000196954 chr11:104954845-104954845;C/A missense_variant False CASP4@p.R55W 1 0.090909091 ENSG00000196954 chr11:104954846-104954846;G/A missense_variant False CASP4@p.S209C 1 0.064150943 ENSG00000196954 chr11:104949698-104949698;G/C missense_variant False CASK@p.S606L 1 0.2 ENSG00000147044 chrX:41555625-41555625;G/A missense_variant False CASK@p.M480I 1 0.223880597 ENSG00000147044 chrX:41578403-41578403;C/A missense_variant False CASP5@p.F379V 1 0.137254902 ENSG00000137757 chr11:104997454-104997454;A/C missense_variant False CARNMT1@p.P207R 1 0.71641791 ENSG00000156017 chr9:74999841-74999841;G/C missense_variant False CARS1@p.D710N 1 0.340909091 ENSG00000110619 chr11:3001233-3001233;C/T missense_variant False CARNS1@p.R463C 1 0.583333333 ENSG00000172508 chr11:67423504-67423504;C/T missense_variant False CARNS1@p.E757K 1 0.466666667 ENSG00000172508 chr11:67424386-67424386;G/A missense_variant False CARNS1@p.D468H 1 0.4 ENSG00000172508 chr11:67423519-67423519;G/C missense_variant False CARNMT1@p.R63H 1 0.307692308 ENSG00000156017 chr9:75028054-75028054;C/T missense_variant False CARNMT1@p.Q226E 1 0.172413793 ENSG00000156017 chr9:74999785-74999785;G/C missense_variant False CARNMT1@p.I188N 1 0.212765957 ENSG00000156017 chr9:75016295-75016295;A/T missense_variant False CASK@p.G612E 1 0.235294118 ENSG00000147044 chrX:41555607-41555607;C/T missense_variant False CARNMT1@p.G227V 1 0.37037037 ENSG00000156017 chr9:74999781-74999781;C/A missense_variant False CARNMT1@p.E64K 1 0.307692308 ENSG00000156017 chr9:75028052-75028052;C/T missense_variant False CARMIL3@p.Q1001K 1 0.476190476 ENSG00000186648 chr14:24064267-24064267;C/A missense_variant False CARMIL3@p.M581I 1 0.4 ENSG00000186648 chr14:24059386-24059386;G/A missense_variant False CARMIL3@p.K915N 1 0.435897436 ENSG00000186648 chr14:24063158-24063158;G/T missense_variant False CARMIL3@p.E959Q 1 0.531914894 ENSG00000186648 chr14:24063429-24063429;G/C missense_variant False CARS1@p.E289D 1 0.45 ENSG00000110619 chr11:3026713-3026713;C/G missense_variant False CARS1@p.R644K 1 0.315789474 ENSG00000110619 chr11:3005403-3005403;C/T missense_variant False CARS2@p.A408V 1 0.384615385 ENSG00000134905 chr13:110646061-110646061;G/A missense_variant False CARS2@p.C78Y 1 0.302325581 ENSG00000134905 chr13:110705563-110705563;C/T missense_variant False CARS2@p.D120H 1 0.286885246 ENSG00000134905 chr13:110701473-110701473;C/G missense_variant False CARS2@p.R445K 1 0.074468085 ENSG00000134905 chr13:110644467-110644467;C/T missense_variant False CARS2@p.T160M 1 0.260869565 ENSG00000134905 chr13:110687813-110687813;G/A missense_variant False CASC3@p.D175N 1 0.125 ENSG00000108349 chr17:40162068-40162068;G/A missense_variant False CASC3@p.E423K 1 0.387755102 ENSG00000108349 chr17:40163962-40163962;G/A missense_variant False CASC3@p.L650V 1 0.083333333 ENSG00000108349 chr17:40168400-40168400;C/G missense_variant False CASC3@p.S21L 1 0.486486486 ENSG00000108349 chr17:40140610-40140610;C/T missense_variant False CASD1@p.E214K 1 0.228571429 ENSG00000127995 chr7:94535320-94535320;G/A missense_variant False CASD1@p.R95I 1 0.2 ENSG00000127995 chr7:94518256-94518256;G/T missense_variant False CASD1@p.S323C 1 0.226890756 ENSG00000127995 chr7:94537596-94537596;C/G missense_variant False CASK@p.D498G 1 1.0 ENSG00000147044 chrX:41578350-41578350;T/C missense_variant False CASK@p.D628N 1 0.170731707 ENSG00000147044 chrX:41553876-41553876;C/T missense_variant False CASK@p.G19E 1 0.147058824 ENSG00000147044 chrX:41922933-41922933;C/T missense_variant False CASP5@p.D284N 1 0.363636364 ENSG00000137757 chr11:105000363-105000363;C/T missense_variant False CASP5@p.K100N 1 0.203703704 ENSG00000137757 chr11:105007216-105007216;C/G missense_variant False CAT@p.G227R 1 0.101123596 ENSG00000121691 chr11:34453894-34453894;G/A missense_variant False CASQ2@p.P279S 1 0.128571429 ENSG00000118729 chr1:115717843-115717843;G/A missense_variant False CASR@p.R819H 1 0.378378378 ENSG00000036828 chr3:122284641-122284641;G/A missense_variant False CASR@p.H917Pfs*54 1 0.52 ENSG00000036828 chr3:122284934-122284935;CA/- frameshift_variant False CASR@p.G989R 1 0.307692308 ENSG00000036828 chr3:122285150-122285150;G/C missense_variant False CASR@p.G94E 1 0.207692308 ENSG00000036828 chr3:122257176-122257176;G/A missense_variant False CASR@p.D248H 1 0.280991736 ENSG00000036828 chr3:122261777-122261777;G/C missense_variant False CASQ2@p.P347T 1 0.088607595 ENSG00000118729 chr1:115701402-115701402;G/T missense_variant False CASQ2@p.L72P 1 0.287128713 ENSG00000118729 chr1:115768327-115768327;A/G missense_variant False CASP9@p.R65Q 1 0.232142857 ENSG00000132906 chr1:15518334-15518334;C/T missense_variant False CASQ2@p.G90S 1 0.636363636 ENSG00000118729 chr1:115744879-115744879;C/T missense_variant False CASQ2@p.E85Q 1 0.404494382 ENSG00000118729 chr1:115744894-115744894;C/G missense_variant False CASQ2@p.D263N 1 0.543103448 ENSG00000118729 chr1:115717891-115717891;C/T missense_variant False CASQ1@p.M280V 1 0.867403315 ENSG00000143318 chr1:160198686-160198686;A/G missense_variant False CASQ1@p.E65K 1 0.25 ENSG00000143318 chr1:160190944-160190944;G/A missense_variant False CASQ1@p.E139K 1 0.168674699 ENSG00000143318 chr1:160193797-160193797;G/A missense_variant False CASR@p.T406S 1 0.134615385 ENSG00000036828 chr3:122262252-122262252;C/G missense_variant False CASS4@p.V218I 1 0.323529412 ENSG00000087589 chr20:56451828-56451828;G/A missense_variant False CAST@p.L567I 1 0.653846154 ENSG00000153113 chr5:96765236-96765236;C/A missense_variant False CAST@p.P402S 1 0.272727273 ENSG00000153113 chr5:96750611-96750611;C/T missense_variant False CAST@p.R482K 1 0.186046512 ENSG00000153113 chr5:96754725-96754725;G/A missense_variant False CAST@p.S373L 1 0.45 ENSG00000153113 chr5:96748552-96748552;C/T missense_variant False CASTOR1@p.F227L 1 0.432432432 ENSG00000239282 chr22:30286325-30286325;G/T missense_variant False CASTOR1@p.R11P 1 0.672413793 ENSG00000239282 chr22:30289466-30289466;C/G missense_variant False CASZ1@p.D142G 1 0.25 ENSG00000130940 chr1:10665163-10665163;T/C missense_variant False CASZ1@p.E1383K 1 0.222222222 ENSG00000130940 chr1:10642874-10642874;C/T missense_variant False CASZ1@p.E138Q 1 0.166666667 ENSG00000130940 chr1:10665176-10665176;C/G missense_variant False CASZ1@p.F1180L 1 0.301886792 ENSG00000130940 chr1:10646284-10646284;G/T missense_variant False CASZ1@p.G761R 1 0.223529412 ENSG00000130940 chr1:10653776-10653776;C/T missense_variant False CASZ1@p.S831L 1 0.423076923 ENSG00000130940 chr1:10653565-10653565;G/A missense_variant False CASZ1@p.Y1250C 1 0.122377622 ENSG00000130940 chr1:10645036-10645036;T/C missense_variant False CAT@p.E101Q 1 0.440758294 ENSG00000121691 chr11:34451050-34451050;G/C missense_variant False CAT@p.E86Q 1 0.262295082 ENSG00000121691 chr11:34451005-34451005;G/C missense_variant False CASQ1@p.D135H 1 0.1875 ENSG00000143318 chr1:160193785-160193785;G/C missense_variant False CASP9@p.G255R 1 0.192771084 ENSG00000132906 chr1:15504716-15504716;C/T missense_variant False CASP5@p.K187N 1 0.26 ENSG00000137757 chr11:105002184-105002184;C/G missense_variant False CASP7@p.E274Q 1 0.195402299 ENSG00000165806 chr10:113729448-113729448;G/C missense_variant False CASP8@p.R233Q 1 0.555555556 ENSG00000064012 chr2:201276864-201276864;G/A missense_variant True CASP8@p.I333M 1 0.102857143 ENSG00000064012 chr2:201285012-201285012;C/G missense_variant True CASP8@p.I239M 1 0.435897436 ENSG00000064012 chr2:201276883-201276883;C/G missense_variant True CASP8@p.I10T 1 0.0875 ENSG00000064012 chr2:201266515-201266515;T/C missense_variant True CASP8@p.D18Y 1 0.833333333 ENSG00000064012 chr2:201266538-201266538;G/T missense_variant True CASP7@p.K76N 1 0.455555556 ENSG00000165806 chr10:113721149-113721149;G/C missense_variant False CASP7@p.D93H 1 0.479166667 ENSG00000165806 chr10:113721680-113721680;G/C missense_variant False CASP9@p.E114D 1 0.238095238 ENSG00000132906 chr1:15518186-15518186;C/G missense_variant False CASP7@p.D192H 1 0.361904762 ENSG00000165806 chr10:113726326-113726326;G/C missense_variant False CASP6@p.E191K 1 0.171428571 ENSG00000138794 chr4:109690922-109690922;C/T missense_variant False CASP5@p.S266F 1 0.25 ENSG00000137757 chr11:105000416-105000416;G/A missense_variant False CASP5@p.R192I 1 0.509803922 ENSG00000137757 chr11:105002170-105002170;C/A missense_variant False CASP5@p.Q404Rfs*16 1 0.41025641 ENSG00000137757 chr11:104995838-104995838;T/- frameshift_variant False CASP5@p.K202M 1 0.236842105 ENSG00000137757 chr11:105002140-105002140;T/A missense_variant False CASP8@p.R260S 1 0.090909091 ENSG00000064012 chr2:201276946-201276946;G/C missense_variant True CASP8@p.S115L 1 0.214285714 ENSG00000064012 chr2:201271554-201271554;C/T missense_variant True CASP8@p.S211C 1 0.361111111 ENSG00000064012 chr2:201274925-201274925;C/G missense_variant True CASP8@p.S338C 1 0.046153846 ENSG00000064012 chr2:201285026-201285026;C/G missense_variant True CASP8AP2@p.A44S 1 0.5 ENSG00000118412 chr6:89854822-89854822;G/T missense_variant False CASP8AP2@p.D1117N 1 0.357142857 ENSG00000118412 chr6:89866639-89866639;G/A missense_variant False CASP8AP2@p.E1163K 1 0.161290323 ENSG00000118412 chr6:89866777-89866777;G/A missense_variant False CASP8AP2@p.E1490Q 1 0.402173913 ENSG00000118412 chr6:89867758-89867758;G/C missense_variant False CASP8AP2@p.E1940Q 1 0.5 ENSG00000118412 chr6:89871314-89871314;G/C missense_variant False CASP8AP2@p.E219D 1 0.082802548 ENSG00000118412 chr6:89862366-89862366;G/C missense_variant False CASP8AP2@p.E60D 1 0.258064516 ENSG00000118412 chr6:89854872-89854872;G/C missense_variant False CASP8AP2@p.E611K 1 0.9375 ENSG00000118412 chr6:89863540-89863540;G/A missense_variant False CASP8AP2@p.H381Y 1 0.152173913 ENSG00000118412 chr6:89862850-89862850;C/T missense_variant False CASP8AP2@p.K1636N 1 0.238095238 ENSG00000118412 chr6:89868198-89868198;G/C missense_variant False CASP8AP2@p.M748I 1 0.307692308 ENSG00000118412 chr6:89863953-89863953;G/T missense_variant False CASP8AP2@p.T442A 1 0.547486034 ENSG00000118412 chr6:89863033-89863033;A/G missense_variant False CASP9@p.D53Y 1 0.333333333 ENSG00000132906 chr1:15518371-15518371;C/A missense_variant False CALD1@p.E393K 1 0.142857143 ENSG00000122786 chr7:134933946-134933946;G/A missense_variant False CALD1@p.E276K 1 0.285714286 ENSG00000122786 chr7:134933595-134933595;G/A missense_variant False C3orf14@p.A6T 1 0.29787234 chr3:62320487-62320487;G/A missense_variant False C9orf24@p.R129W 1 0.418181818 chr9:34382765-34382765;G/A missense_variant False C9orf50@p.P174L 1 0.277777778 chr9:129619818-129619818;G/A missense_variant False C9orf50@p.H228D 1 0.327433628 chr9:129619554-129619554;G/C missense_variant False C9orf50@p.E322D 1 0.267716535 chr9:129613512-129613512;C/G missense_variant False C9orf43@p.S437C 1 0.157894737 chr9:113429310-113429310;C/G missense_variant False C9orf43@p.R278L 1 0.468085106 chr9:113425044-113425044;G/T missense_variant False C9orf24@p.R181Q 1 0.434782609 chr9:34381062-34381062;C/T missense_variant False C9orf24@p.E38Q 1 0.244239631 chr9:34397522-34397522;C/G missense_variant False C9orf64@p.F76L 1 0.473282443 chr9:83956275-83956275;A/G missense_variant False C9orf16@p.S40C 1 0.130434783 chr9:128163482-128163482;C/G missense_variant False C9orf153@p.S96C 1 0.275362319 chr9:86227352-86227352;G/C missense_variant False C9orf153@p.F66L 1 0.125 chr9:86227901-86227901;A/G missense_variant False C9orf152@p.E122Q 1 0.510416667 chr9:110201304-110201304;C/G missense_variant False C9orf152@p.D133E 1 0.196808511 chr9:110201269-110201269;G/T missense_variant False C9orf131@p.P200H 1 0.098039216 chr9:35043228-35043228;C/A missense_variant False C9orf64@p.E62K 1 0.363636364 chr9:83956317-83956317;C/T missense_variant False C9orf64@p.R45C 1 0.183673469 chr9:83956368-83956368;G/A missense_variant False CACNA1A@p.E1790K 1 0.103448276 ENSG00000141837 chr19:13231760-13231760;C/T missense_variant False CA10@p.D236N 1 0.060240964 ENSG00000154975 chr17:51635938-51635938;C/T missense_variant False CA12@p.D38H 1 0.157142857 ENSG00000074410 chr15:63346704-63346704;C/G missense_variant False CA10@p.R108C 1 0.19047619 ENSG00000154975 chr17:51747776-51747776;G/A missense_variant False CA10@p.Q272H 1 0.25 ENSG00000154975 chr17:51633624-51633624;C/A missense_variant False CA10@p.L147F 1 0.171641791 ENSG00000154975 chr17:51747659-51747659;G/A missense_variant False CA10@p.I222T 1 0.256 ENSG00000154975 chr17:51635979-51635979;A/G missense_variant False CA10@p.E164D 1 0.120689655 ENSG00000154975 chr17:51653710-51653710;C/A missense_variant False C9orf85@p.F22I 1 0.171122995 chr9:71911798-71911798;T/A missense_variant False C9orf72@p.L37F 1 0.365591398 chr9:27567012-27567012;G/A missense_variant False C9orf78@p.R35T 1 0.105263158 chr9:129834746-129834746;C/G missense_variant False C9orf78@p.N233K 1 0.333333333 chr9:129829284-129829284;G/T missense_variant False C9orf78@p.G55E 1 0.1875 chr9:129833689-129833689;C/T missense_variant False C9orf78@p.E143Q 1 0.506666667 chr9:129830986-129830986;C/G missense_variant False C9orf78@p.D95N 1 0.254901961 chr9:129831957-129831957;C/T missense_variant False C9orf72@p.L430V 1 0.75 chr9:27548394-27548394;G/C missense_variant False C9orf131@p.K891N 1 0.170984456 chr9:35045302-35045302;G/C missense_variant False C9orf131@p.E697Q 1 0.666666667 chr9:35044718-35044718;G/C missense_variant False C9orf131@p.E303K 1 0.275862069 chr9:35043536-35043536;G/A missense_variant False C8orf34@p.S191* 1 0.142857143 chr8:68446420-68446421;TG/- frameshift_variant False C8orf58@p.Q201H 1 0.286624204 chr8:22601798-22601798;G/C missense_variant False C8orf37@p.E69K 1 0.358490566 chr8:95263725-95263725;C/T missense_variant False C8orf37@p.E13Q 1 0.248175182 chr8:95269153-95269153;C/G missense_variant False C8orf37@p.E11K 1 0.032653061 chr8:95269159-95269159;C/T missense_variant False C8orf34@p.V494A 1 0.46875 chr8:68787468-68787468;T/C missense_variant False C8orf34@p.S296I 1 0.115384615 chr8:68521920-68521920;G/T missense_variant False C8orf34@p.R138H 1 0.315789474 chr8:68439584-68439584;G/A missense_variant False C9orf131@p.E105Q 1 0.571428571 chr9:35042942-35042942;G/C missense_variant False C8orf34@p.N213K 1 0.27826087 chr8:68468723-68468723;C/A missense_variant False C8orf34@p.M453K 1 0.087719298 chr8:68721391-68721391;T/A missense_variant False C8orf34@p.A398D 1 0.264705882 chr8:68640463-68640463;C/A missense_variant False C8orf33@p.R198T 1 0.172566372 chr8:145054060-145054060;G/C missense_variant False C8orf33@p.L217V 1 0.107344633 chr8:145054116-145054116;C/G missense_variant False C8B@p.S37F 1 0.173913043 ENSG00000021852 chr1:56960159-56960159;G/A missense_variant False C8orf74@p.A261T 1 0.474576271 chr8:10700367-10700367;G/A missense_variant False C8orf74@p.L257V 1 0.821428571 chr8:10700355-10700355;C/G missense_variant False C8orf74@p.Q133H 1 0.144628099 chr8:10697756-10697756;G/C missense_variant False C8orf76@p.A112V 1 0.215686275 chr8:123237820-123237820;G/A missense_variant False C8orf76@p.F204V 1 0.425414365 chr8:123231505-123231505;A/C missense_variant False C8orf76@p.L213V 1 0.257668712 chr8:123231478-123231478;G/C missense_variant False C8orf76@p.Q281E 1 0.097222222 chr8:123226607-123226607;G/C missense_variant False C8orf76@p.S284L 1 0.581967213 chr8:123226597-123226597;G/A missense_variant False C8orf76@p.S350L 1 0.125 chr8:123220197-123220197;G/A missense_variant False C8orf82@p.D57N 1 0.27027027 chr8:144528060-144528060;C/T missense_variant False C8orf82@p.K61N 1 0.168674699 chr8:144528046-144528046;C/G missense_variant False C8orf82@p.M60I 1 0.11627907 chr8:144528049-144528049;C/T missense_variant False C9@p.A413S 1 0.112903226 ENSG00000113600 chr5:39308233-39308233;C/A missense_variant False C9@p.E535Q 1 0.370786517 ENSG00000113600 chr5:39288765-39288765;C/G missense_variant False C9@p.I394M 1 0.042105263 ENSG00000113600 chr5:39308288-39308288;G/C missense_variant False C9@p.L295V 1 0.62745098 ENSG00000113600 chr5:39311365-39311365;G/C missense_variant False C9@p.S470G 1 0.295081967 ENSG00000113600 chr5:39306625-39306625;T/C missense_variant False CA1@p.G26A 1 0.216 ENSG00000133742 chr8:85338410-85338410;C/G missense_variant False CA1@p.I23F 1 0.538043478 ENSG00000133742 chr8:85338420-85338420;T/A missense_variant False CA1@p.K169E 1 0.274193548 ENSG00000133742 chr8:85332498-85332498;T/C missense_variant False CABS1@p.D109H 1 0.274509804 ENSG00000145309 chr4:70335364-70335364;G/C missense_variant False CABS1@p.S344F 1 0.37704918 ENSG00000145309 chr4:70336070-70336070;C/T missense_variant False CABS1@p.S157L 1 0.25 ENSG00000145309 chr4:70335509-70335509;C/T missense_variant False CABS1@p.I212V 1 0.426229508 ENSG00000145309 chr4:70335673-70335673;A/G missense_variant False CABS1@p.E248K 1 0.55 ENSG00000145309 chr4:70335781-70335781;G/A missense_variant False CABS1@p.D80H 1 0.06097561 ENSG00000145309 chr4:70335277-70335277;G/C missense_variant False CABS1@p.D277H 1 0.132075472 ENSG00000145309 chr4:70335868-70335868;G/C missense_variant False CABP7@p.V119A 1 0.21875 ENSG00000100314 chr22:29728732-29728732;T/C missense_variant False CABLES2@p.M369_S371delinsI 1 0.255033557 ENSG00000149679 chr20:62391433-62391438;CTCCGC/- inframe_deletion False CABP5@p.E91G 1 0.1875 ENSG00000105507 chr19:48039284-48039284;T/C missense_variant False CABP4@p.R253L 1 0.268518519 ENSG00000175544 chr11:67458477-67458477;G/T missense_variant False CABP4@p.L14V 1 0.6 ENSG00000175544 chr11:67455463-67455463;C/G missense_variant False CABP2@p.T148R 1 0.180952381 ENSG00000167791 chr11:67520097-67520097;G/C missense_variant False CABP1@p.E228K 1 0.268292683 ENSG00000157782 chr12:120659905-120659905;G/A missense_variant False CABP1@p.D238H 1 0.273584906 ENSG00000157782 chr12:120660222-120660222;G/C missense_variant False CABYR@p.H63Y 1 0.170731707 ENSG00000154040 chr18:24143401-24143401;C/T missense_variant False CABYR@p.Q64E 1 0.083333333 ENSG00000154040 chr18:24143404-24143404;C/G missense_variant False CABYR@p.S353C 1 0.081761006 ENSG00000154040 chr18:24156559-24156559;C/G missense_variant False CACHD1@p.D1194N 1 0.596491228 ENSG00000158966 chr1:64682100-64682100;G/A missense_variant False CACHD1@p.D259N 1 0.236363636 ENSG00000158966 chr1:64632729-64632729;G/A missense_variant False CACHD1@p.E1150K 1 0.044871795 ENSG00000158966 chr1:64681299-64681299;G/A missense_variant False CACHD1@p.K91R 1 0.434782609 ENSG00000158966 chr1:64582166-64582166;A/G missense_variant False CACHD1@p.M518T 1 0.431137725 ENSG00000158966 chr1:64653770-64653770;T/C missense_variant False CACHD1@p.N181K 1 0.340425532 ENSG00000158966 chr1:64629380-64629380;C/A missense_variant False CACHD1@p.P872L 1 0.267716535 ENSG00000158966 chr1:64673352-64673352;C/T missense_variant False CACHD1@p.R730C 1 0.176923077 ENSG00000158966 chr1:64664591-64664591;C/T missense_variant False CACHD1@p.S298Y 1 0.15625 ENSG00000158966 chr1:64634147-64634147;C/A missense_variant False CACHD1@p.S746Y 1 0.333333333 ENSG00000158966 chr1:64664640-64664640;C/A missense_variant False CACNA1A@p.D1314N 1 0.153846154 ENSG00000141837 chr19:13275911-13275911;C/T missense_variant False CACNA1A@p.D1320N 1 0.142857143 ENSG00000141837 chr19:13275893-13275893;C/T missense_variant False CACNA1A@p.E1204K 1 0.295774648 ENSG00000141837 chr19:13285162-13285162;C/T missense_variant False CACNA1A@p.E1572Q 1 0.138888889 ENSG00000141837 chr19:13255148-13255148;C/G missense_variant False CABLES2@p.S286L 1 0.235294118 ENSG00000149679 chr20:62393463-62393463;G/A missense_variant False CABLES2@p.I164M 1 0.391705069 ENSG00000149679 chr20:62396350-62396350;G/C missense_variant False CA2@p.Q248E 1 0.333333333 ENSG00000104267 chr8:85480748-85480748;C/G missense_variant False CA5B@p.A31V 1 0.308943089 ENSG00000169239 chrX:15750115-15750115;C/T missense_variant False CA8@p.Q190K 1 0.2 ENSG00000178538 chr8:60226881-60226881;G/T missense_variant False CA8@p.H256Y 1 0.183908046 ENSG00000178538 chr8:60208892-60208892;G/A missense_variant False CA7@p.G113S 1 0.257142857 ENSG00000168748 chr16:66850639-66850639;G/A missense_variant False CA6@p.N67D 1 0.176470588 ENSG00000131686 chr1:8949382-8949382;A/G missense_variant False CA5B@p.S295C 1 0.413793103 ENSG00000169239 chrX:15782594-15782594;C/G missense_variant False CA5B@p.D137N 1 0.278688525 ENSG00000169239 chrX:15772564-15772564;G/A missense_variant False CA5A@p.S74N 1 0.166666667 ENSG00000174990 chr16:87926867-87926867;C/T missense_variant False CABLES1@p.K553N 1 0.175438596 ENSG00000134508 chr18:23253834-23253834;A/T missense_variant False CA5A@p.S260F 1 0.245283019 ENSG00000174990 chr16:87888268-87888268;G/A missense_variant False CA5A@p.S161Y 1 0.078125 ENSG00000174990 chr16:87902498-87902498;G/T missense_variant False CA4@p.S101F 1 0.207207207 ENSG00000167434 chr17:60157460-60157460;C/T missense_variant False CA4@p.E240K 1 0.282051282 ENSG00000167434 chr17:60158420-60158420;G/A missense_variant False CA3@p.S105C 1 0.350574713 ENSG00000164879 chr8:85442154-85442154;C/G missense_variant False CA3@p.D110Y 1 0.144578313 ENSG00000164879 chr8:85442168-85442168;G/T missense_variant False CA9@p.E87K 1 0.947368421 ENSG00000107159 chr9:35674218-35674218;G/A missense_variant False CA9@p.S102A 1 0.285714286 ENSG00000107159 chr9:35674263-35674263;T/G missense_variant False CA9@p.S319C 1 0.1625 ENSG00000107159 chr9:35679233-35679233;C/G missense_variant False CAAP1@p.A361T 1 0.129032258 ENSG00000120159 chr9:26842306-26842306;C/T missense_variant False CAAP1@p.G200E 1 0.231481481 ENSG00000120159 chr9:26884876-26884876;C/T missense_variant False CAAP1@p.I28M 1 0.157894737 ENSG00000120159 chr9:26892632-26892632;G/C missense_variant False CAAP1@p.P325A 1 0.473684211 ENSG00000120159 chr9:26842414-26842414;G/C missense_variant False CAAP1@p.S213F 1 0.860869565 ENSG00000120159 chr9:26884837-26884837;G/A missense_variant False CAB39@p.L54V 1 1.0 ENSG00000135932 chr2:230790917-230790917;C/G missense_variant False CAB39@p.M246T 1 0.545454545 ENSG00000135932 chr2:230817797-230817797;T/C missense_variant False CAB39L@p.M4Nfs*5 1 0.205882353 ENSG00000102547 chr13:49382900-49382901;-/T frameshift_variant False CAB39L@p.Q108H 1 0.125 ENSG00000102547 chr13:49359785-49359785;C/G missense_variant False CABIN1@p.A1269Gfs*7 1 0.216931217 ENSG00000099991 chr22:24095940-24095941;-/GGCTCCAT frameshift_variant False CABIN1@p.A146T 1 0.214285714 ENSG00000099991 chr22:24042994-24042994;G/A missense_variant False CABIN1@p.D1933H 1 0.321428571 ENSG00000099991 chr22:24171752-24171752;G/C missense_variant False CABIN1@p.E438D 1 0.06122449 ENSG00000099991 chr22:24059278-24059278;A/T missense_variant False CABIN1@p.Q789Hfs*3 1 0.285714286 ENSG00000099991 chr22:24070933-24070933;A/- frameshift_variant False C8B@p.P507L 1 0.376623377 ENSG00000021852 chr1:56933367-56933367;G/A missense_variant False C8B@p.L372V 1 0.053030303 ENSG00000021852 chr1:56943816-56943816;G/C missense_variant False C8A@p.T581K 1 0.368421053 ENSG00000157131 chr1:56917703-56917703;C/A missense_variant False C4orf19@p.E168Q 1 0.168674699 chr4:37590557-37590557;G/C missense_variant False C4orf3@p.R18Q 1 0.302631579 chr4:119300483-119300483;C/T missense_variant False C4orf33@p.I21V 1 0.289473684 chr4:129102671-129102671;A/G missense_variant False C4orf19@p.Y24H 1 0.408247423 chr4:37590125-37590125;T/C missense_variant False C4orf19@p.G90E 1 0.307692308 chr4:37590324-37590324;G/A missense_variant False C4orf19@p.G283W 1 0.353658537 chr4:37590902-37590902;G/T missense_variant False C4orf19@p.G283R 1 0.437869822 chr4:37590902-37590902;G/A missense_variant False C4orf17@p.Q328E 1 0.230769231 chr4:99542011-99542011;C/G missense_variant False C4BPA@p.P61L 1 0.123966942 ENSG00000123838 chr1:207114139-207114139;C/T missense_variant False C4orf17@p.L28V 1 0.1875 chr4:99513163-99513163;C/G missense_variant False C4BPB@p.S93F 1 0.344262295 ENSG00000123843 chr1:207091689-207091689;C/T missense_variant False C4BPB@p.N221Y 1 0.391891892 ENSG00000123843 chr1:207099831-207099831;A/T missense_variant False C4BPB@p.G173V 1 0.675675676 ENSG00000123843 chr1:207098164-207098164;G/T missense_variant False C4BPB@p.E176D 1 0.510204082 ENSG00000123843 chr1:207098174-207098174;G/C missense_variant False C4BPA@p.S198C 1 0.162650602 ENSG00000123838 chr1:207124253-207124253;C/G missense_variant False C4orf45@p.Q132H 1 0.4 chr4:158915320-158915320;C/A missense_variant False C4orf45@p.S110L 1 0.161290323 chr4:158960313-158960313;G/A missense_variant False C4orf50@p.E124K 1 0.237410072 chr4:5973697-5973697;C/T missense_variant False C4orf50@p.W182L 1 0.442622951 chr4:5965058-5965058;C/A missense_variant False C4orf51@p.D131N 1 0.289473684 chr4:145729193-145729193;G/A missense_variant False C4orf51@p.H169Y 1 0.212121212 chr4:145732456-145732456;C/T missense_variant False C4orf51@p.P200R 1 0.28125 chr4:145732550-145732550;C/G missense_variant False C4orf51@p.Q35Hfs*8 1 0.262295082 chr4:145680306-145680315;CAGGATGAAA/- frameshift_variant False C5@p.A1590T 1 0.183823529 ENSG00000106804 chr9:120953863-120953863;C/T missense_variant False C5@p.E1295K 1 0.54109589 ENSG00000106804 chr9:120974913-120974913;C/T missense_variant False C5@p.E1414Q 1 0.149425287 ENSG00000106804 chr9:120963719-120963719;C/G missense_variant False C5@p.L1175M 1 0.125 ENSG00000106804 chr9:120980218-120980218;G/T missense_variant False C5@p.L1309F 1 0.434108527 ENSG00000106804 chr9:120974869-120974869;C/G missense_variant False C5@p.L504V 1 0.512820513 ENSG00000106804 chr9:121017849-121017849;A/C missense_variant False C5@p.P1181Qfs*32 1 0.156626506 ENSG00000106804 chr9:120980199-120980199;G/- frameshift_variant False C5@p.P89R 1 0.166666667 ENSG00000106804 chr9:121043159-121043159;G/C missense_variant False C5@p.S184Y 1 0.272727273 ENSG00000106804 chr9:121034836-121034836;G/T missense_variant False C4BPA@p.R418Q 1 0.42 ENSG00000123838 chr1:207134572-207134572;G/A missense_variant False C4BPA@p.K14N 1 0.473684211 ENSG00000123838 chr1:207113067-207113067;A/C missense_variant False C5AR1@p.K280N 1 0.432835821 ENSG00000197405 chr19:47320617-47320617;G/T missense_variant False C3orf20@p.Q364E 1 0.125560538 chr3:14704548-14704548;C/G missense_variant False C3orf56@p.R208C 1 0.181818182 chr3:127197307-127197307;C/T missense_variant False C3orf52@p.D197N 1 0.222222222 chr3:112113085-112113085;G/A missense_variant False C3orf38@p.L160V 1 0.292397661 chr3:88156123-88156123;C/G missense_variant False C3orf38@p.L153F 1 0.269230769 chr3:88156102-88156102;C/T missense_variant False C3orf20@p.R312Q 1 0.264150943 chr3:14704393-14704393;G/A missense_variant False C3orf20@p.Q608E 1 0.534883721 chr3:14728570-14728570;C/G missense_variant False C3orf20@p.G218R 1 0.210084034 chr3:14690023-14690023;G/A missense_variant False C4BPA@p.H246Q 1 0.283464567 ENSG00000123838 chr1:207126744-207126744;T/A missense_variant False C3orf20@p.F793L 1 0.085106383 chr3:14761499-14761499;T/G missense_variant False C3orf20@p.E543K 1 0.45 chr3:14726961-14726961;G/A missense_variant False C3orf20@p.E274Q 1 0.465425532 chr3:14703204-14703204;G/C missense_variant False C3orf18@p.E20Q 1 0.137931034 chr3:50565642-50565642;C/G missense_variant False C3orf14@p.S82Y 1 0.358024691 chr3:62331392-62331392;C/A missense_variant False C3orf14@p.M24I 1 0.22 chr3:62321948-62321948;G/A missense_variant False C3orf56@p.S164L 1 0.285714286 chr3:127197176-127197176;C/T missense_variant False C3orf56@p.S205L 1 0.875 chr3:127197299-127197299;C/T missense_variant False C3orf62@p.E197Q 1 0.15942029 chr3:49271395-49271395;C/G missense_variant False C3orf62@p.E33K 1 0.560606061 chr3:49276776-49276776;C/T missense_variant False C3orf62@p.S55F 1 0.197183099 chr3:49276709-49276709;G/A missense_variant False C3orf62@p.S75F 1 0.247311828 chr3:49276649-49276649;G/A missense_variant False C3orf70@p.D132N 1 0.14893617 chr3:185083366-185083366;C/T missense_variant False C3orf70@p.L18R 1 0.159090909 chr3:185152771-185152771;A/C missense_variant False C3orf70@p.S163F 1 0.277777778 chr3:185083272-185083272;G/A missense_variant False C3orf70@p.S6W 1 0.19047619 chr3:185152807-185152807;G/C missense_variant False C3orf70@p.S98L 1 0.194805195 chr3:185083467-185083467;G/A missense_variant False C3orf70@p.S9L 1 0.208333333 chr3:185152798-185152798;G/A missense_variant False C3orf70@p.T245M 1 0.131578947 chr3:185083026-185083026;G/A missense_variant False C4A@p.D1125H 1 0.075471698 ENSG00000244731 chr6:31996097-31996097;G/C missense_variant False C4B@p.E1137K 1 0.253731343 ENSG00000224389 chr6:32028966-32028966;G/A missense_variant False C4B@p.R916Q 1 0.186666667 ENSG00000224389 chr6:32027390-32027390;G/A missense_variant False C4BPA@p.G527R 1 0.362637363 ENSG00000123838 chr1:207143952-207143952;G/A missense_variant False C5AR1@p.K239N 1 0.456896552 ENSG00000197405 chr19:47320494-47320494;G/T missense_variant False C5AR1@p.K28N 1 0.431034483 ENSG00000197405 chr19:47319861-47319861;A/C missense_variant False C8A@p.S42N 1 0.344827586 ENSG00000157131 chr1:56867656-56867656;G/A missense_variant False C6orf62@p.R20T 1 0.581632653 chr6:24718610-24718610;C/G missense_variant False C7@p.S127A 1 0.148148148 ENSG00000112936 chr5:40936436-40936436;T/G missense_variant False C7@p.P647A 1 0.341772152 ENSG00000112936 chr5:40972459-40972459;C/G missense_variant False C7@p.F262Y 1 0.35 ENSG00000112936 chr5:40947648-40947648;T/A missense_variant False C7@p.E615K 1 0.272727273 ENSG00000112936 chr5:40964834-40964834;G/A missense_variant False C6orf89@p.K45N 1 0.176470588 chr6:36899579-36899579;G/C missense_variant False C6orf89@p.E204Q 1 0.24137931 chr6:36914608-36914608;G/C missense_variant False C6orf62@p.N61H 1 0.493150685 chr6:24716273-24716273;T/G missense_variant False C6orf120@p.S96L 1 0.925 chr6:169702746-169702746;C/T missense_variant False C6orf58@p.L135M 1 0.125 chr6:127580279-127580279;C/A missense_variant False C6orf47@p.L217V 1 0.459459459 chr6:31659299-31659299;G/C missense_variant False C6orf47@p.E37Q 1 0.098360656 chr6:31659839-31659839;C/G missense_variant False C6orf15@p.E113Q 1 0.592592593 chr6:31112022-31112022;C/G missense_variant False C6orf136@p.Y152C 1 0.271604938 chr6:30649940-30649940;A/G missense_variant False C6orf136@p.W205C 1 0.264150943 chr6:30651317-30651317;G/C missense_variant False C7orf25@p.E179Q 1 0.121495327 chr7:42910366-42910366;C/G missense_variant False C7orf25@p.L250Q 1 0.253012048 chr7:42910152-42910152;A/T missense_variant False C7orf26@p.S283F 1 0.492307692 chr7:6600096-6600096;C/T missense_variant False C7orf31@p.D121N 1 0.156862745 chr7:25161211-25161211;C/T missense_variant False C7orf31@p.E76K 1 0.162790698 chr7:25168374-25168374;C/T missense_variant False C7orf31@p.P290S 1 0.189189189 chr7:25142324-25142324;G/A missense_variant False C7orf31@p.W443C 1 0.166023166 chr7:25136416-25136416;C/G missense_variant False C7orf33@p.S177N 1 0.216494845 chr7:148615397-148615397;G/A missense_variant False C7orf33@p.T64K 1 0.791044776 chr7:148591116-148591116;C/A missense_variant False C7orf50@p.E13Q 1 0.526315789 chr7:1127349-1127349;C/G missense_variant False C7orf50@p.E62K 1 0.242424242 chr7:1010089-1010089;C/T missense_variant False C7orf50@p.E73Q 1 0.368421053 chr7:1010056-1010056;C/G missense_variant False C7orf57@p.P95S 1 0.553191489 chr7:48043522-48043522;C/T missense_variant False C8A@p.E195Q 1 0.114285714 ENSG00000157131 chr1:56881563-56881563;G/C missense_variant False C8A@p.E22D 1 0.260869565 ENSG00000157131 chr1:56854967-56854967;G/T missense_variant False C8A@p.G183R 1 0.079470199 ENSG00000157131 chr1:56881527-56881527;G/C missense_variant False C8A@p.G338D 1 0.210526316 ENSG00000157131 chr1:56886084-56886084;G/A missense_variant False C6orf136@p.S149F 1 0.146938776 chr6:30649931-30649931;C/T missense_variant False C6orf120@p.S168L 1 0.333333333 chr6:169702962-169702962;C/T missense_variant False C5AR2@p.G192S 1 0.416666667 ENSG00000134830 chr19:47341373-47341373;G/A missense_variant False C5orf24@p.G175W 1 0.222222222 chr5:134855423-134855423;G/T missense_variant False C5orf38@p.E95Q 1 0.378881988 chr5:2752704-2752704;G/C missense_variant False C5orf34@p.L464V 1 0.214285714 chr5:43492815-43492815;G/C missense_variant False C5orf34@p.K493N 1 0.184 chr5:43492726-43492726;C/G missense_variant False C5orf34@p.E604Q 1 0.392156863 chr5:43487022-43487022;C/G missense_variant False C5orf34@p.E387Q 1 0.166666667 chr5:43494595-43494595;C/G missense_variant False C5orf34@p.E119K 1 0.454545455 chr5:43506325-43506325;C/T missense_variant False C5orf22@p.R108T 1 0.245283019 chr5:31535839-31535839;G/C missense_variant False C6orf120@p.H86P 1 0.72972973 chr6:169702716-169702716;A/C missense_variant False C5orf22@p.I84V 1 0.352941176 chr5:31535766-31535766;A/G missense_variant False C5orf22@p.E352K 1 0.345588235 chr5:31545707-31545707;G/A missense_variant False C5orf22@p.D253H 1 0.141025641 chr5:31538639-31538639;G/C missense_variant False C5orf15@p.P110S 1 0.2 chr5:133959832-133959832;G/A missense_variant False C5orf15@p.L143V 1 0.284090909 chr5:133959733-133959733;G/C missense_variant False C5orf15@p.D52N 1 0.392857143 chr5:133960006-133960006;C/T missense_variant False C5orf38@p.P91L 1 0.112359551 chr5:2752693-2752693;C/T missense_variant False C5orf49@p.G51R 1 0.533333333 chr5:7835495-7835495;C/T missense_variant False C5orf51@p.D236G 1 0.34 chr5:41917121-41917121;A/G missense_variant False C6@p.D376N 1 0.111111111 ENSG00000039537 chr5:41176517-41176517;C/T missense_variant False C6@p.D689H 1 0.087719298 ENSG00000039537 chr5:41155008-41155008;C/G missense_variant False C6@p.E848Q 1 0.289719626 ENSG00000039537 chr5:41149322-41149322;C/G missense_variant False C6@p.G863A 1 0.089385475 ENSG00000039537 chr5:41149276-41149276;C/G missense_variant False C6@p.L345M 1 0.254545455 ENSG00000039537 chr5:41176610-41176610;G/T missense_variant False C6@p.P520S 1 0.186915888 ENSG00000039537 chr5:41160268-41160268;G/A missense_variant False C6@p.Q777H 1 0.084677419 ENSG00000039537 chr5:41149985-41149985;C/G missense_variant False C6@p.S277Efs*15 1 0.35443038 ENSG00000039537 chr5:41181457-41181458;-/C frameshift_variant False C6orf118@p.E377K 1 0.138888889 chr6:165290059-165290059;C/T missense_variant False C6orf118@p.E405Q 1 0.158730159 chr6:165289975-165289975;C/G missense_variant False C6orf118@p.I399M 1 0.231481481 chr6:165289991-165289991;T/C missense_variant False C6orf118@p.N279S 1 0.203125 chr6:165300404-165300404;T/C missense_variant False C6orf118@p.Q306H 1 0.166666667 chr6:165299461-165299461;C/A missense_variant False C6orf120@p.E62K 1 0.193548387 chr6:169702643-169702643;G/A missense_variant False CACNA1A@p.E1735K 1 0.170212766 ENSG00000141837 chr19:13234985-13234985;C/T missense_variant False CACNA1A@p.E1820Q 1 0.108695652 ENSG00000141837 chr19:13230170-13230170;C/G missense_variant False CALD1@p.D426H 1 0.333333333 ENSG00000122786 chr7:134934045-134934045;G/C missense_variant False CACTIN@p.R639W 1 0.333333333 ENSG00000105298 chr19:3612285-3612285;G/A missense_variant False CAD@p.E2190K 1 0.25 ENSG00000084774 chr2:27243285-27243285;G/A missense_variant False CAD@p.E1524K 1 0.210526316 ENSG00000084774 chr2:27237724-27237724;G/A missense_variant False CACYBP@p.E58K 1 0.113636364 ENSG00000116161 chr1:175004770-175004770;G/A missense_variant False CACUL1@p.S360L 1 0.295081967 ENSG00000151893 chr10:118686159-118686159;G/A missense_variant False CACUL1@p.P315S 1 0.253521127 ENSG00000151893 chr10:118691347-118691347;G/A missense_variant False CACTIN@p.S81L 1 0.201550388 ENSG00000105298 chr19:3624088-3624088;G/A missense_variant False CACTIN@p.R299C 1 0.173913043 ENSG00000105298 chr19:3619232-3619232;G/A missense_variant False CAD@p.F76V 1 0.153846154 ENSG00000084774 chr2:27221221-27221221;T/G missense_variant False CACTIN@p.E697D 1 0.084444444 ENSG00000105298 chr19:3612109-3612109;C/A missense_variant False CACTIN@p.E600K 1 0.357142857 ENSG00000105298 chr19:3612402-3612402;C/T missense_variant False CACTIN@p.D687N 1 0.176470588 ENSG00000105298 chr19:3612141-3612141;C/T missense_variant False CACNG8@p.F131C 1 0.351351351 ENSG00000142408 chr19:53979891-53979891;T/G missense_variant False CACNG8@p.E233Q 1 0.384615385 ENSG00000142408 chr19:53982268-53982268;G/C missense_variant False CACNG8@p.E217K 1 0.666666667 ENSG00000142408 chr19:53982220-53982220;G/A missense_variant False CAD@p.E66K 1 0.222222222 ENSG00000084774 chr2:27217990-27217990;G/A missense_variant False CAD@p.R571G 1 0.676470588 ENSG00000084774 chr2:27225795-27225795;A/G missense_variant False CACNA1A@p.E904Q 1 0.666666667 ENSG00000141837 chr19:13298935-13298935;C/G missense_variant False CADM1@p.S72C 1 0.217391304 ENSG00000182985 chr11:115240330-115240330;G/C missense_variant False CADM2@p.I370T 1 0.170731707 ENSG00000175161 chr3:86065650-86065650;T/C missense_variant False CADM2@p.I223L 1 0.548387097 ENSG00000175161 chr3:85912537-85912537;A/C missense_variant False CADM2@p.G278R 1 0.246153846 ENSG00000175161 chr3:85961536-85961536;G/C missense_variant False CADM2@p.E408K 1 0.222222222 ENSG00000175161 chr3:86066697-86066697;G/A missense_variant False CADM2@p.E222Q 1 0.1125 ENSG00000175161 chr3:85912534-85912534;G/C missense_variant False CADM2@p.E174Q 1 0.314285714 ENSG00000175161 chr3:85912390-85912390;G/C missense_variant False CADM1@p.Q289E 1 0.293103448 ENSG00000182985 chr11:115214737-115214737;G/C missense_variant False CAD@p.T1759I 1 0.068965517 ENSG00000084774 chr2:27239353-27239353;C/T missense_variant False CADM1@p.M198I 1 0.175 ENSG00000182985 chr11:115229240-115229240;C/T missense_variant False CADM1@p.L237V 1 0.301886792 ENSG00000182985 chr11:115229125-115229125;G/C missense_variant False CADM1@p.E428K 1 0.166666667 ENSG00000182985 chr11:115176521-115176521;C/T missense_variant False CADM1@p.A427V 1 0.225806452 ENSG00000182985 chr11:115176523-115176523;G/A missense_variant False CAD@p.V1929F 1 0.122605364 ENSG00000084774 chr2:27241204-27241204;G/T missense_variant False CAD@p.T753A 1 0.320754717 ENSG00000084774 chr2:27226932-27226932;A/G missense_variant False CACNG7@p.R241W 1 0.154929577 ENSG00000105605 chr19:53942186-53942186;C/T missense_variant False CACNG7@p.R211H 1 0.297297297 ENSG00000105605 chr19:53942097-53942097;G/A missense_variant False CACNG7@p.G70S 1 0.416666667 ENSG00000105605 chr19:53914511-53914511;G/A missense_variant False CACNB3@p.E111Q 1 0.333333333 ENSG00000167535 chr12:48824297-48824297;G/C missense_variant False CACNG2@p.M58I 1 0.2 ENSG00000166862 chr22:36702403-36702403;C/G missense_variant False CACNG1@p.Q100E 1 0.471698113 ENSG00000108878 chr17:67054064-67054064;C/G missense_variant False CACNB4@p.G185R 1 0.122137405 ENSG00000283228 chr2:151872462-151872462;C/G missense_variant False CACNB4@p.E297Q 1 0.114285714 ENSG00000283228 chr2:151855355-151855355;C/G missense_variant False CACNB3@p.R207T 1 0.120481928 ENSG00000167535 chr12:48825480-48825480;G/C missense_variant False CACNB3@p.L200F 1 0.233333333 ENSG00000167535 chr12:48825458-48825458;C/T missense_variant False CACNB2@p.V522M 1 0.528301887 ENSG00000165995 chr10:18539305-18539305;G/A missense_variant False CACNG7@p.F103Sfs*59 1 0.310810811 ENSG00000105605 chr19:53915383-53915383;C/- frameshift_variant False CACNB2@p.S65L 1 0.092485549 ENSG00000165995 chr10:18150956-18150956;C/T missense_variant False CACNB2@p.P264R 1 0.181318681 ENSG00000165995 chr10:18514356-18514356;C/G missense_variant False CACNB2@p.K428T 1 0.511111111 ENSG00000165995 chr10:18536177-18536177;A/C missense_variant False CACNB2@p.H590Q 1 0.24137931 ENSG00000165995 chr10:18539511-18539511;C/A missense_variant False CACNB2@p.G171E 1 0.184210526 ENSG00000165995 chr10:18500867-18500867;G/A missense_variant False CACNB2@p.E98Q 1 0.085365854 ENSG00000165995 chr10:18402002-18402002;G/C missense_variant False CACNG2@p.N133Y 1 0.346153846 ENSG00000166862 chr22:36566392-36566392;T/A missense_variant False CACNG2@p.V15I 1 0.487804878 ENSG00000166862 chr22:36702534-36702534;C/T missense_variant False CACNG3@p.A222S 1 0.548387097 ENSG00000006116 chr16:24361579-24361579;G/T missense_variant False CACNG3@p.D163N 1 0.134831461 ENSG00000006116 chr16:24361402-24361402;G/A missense_variant False CACNG3@p.R129C 1 0.657142857 ENSG00000006116 chr16:24354922-24354922;C/T missense_variant False CACNG4@p.D166H 1 0.055248619 ENSG00000075461 chr17:67030516-67030516;G/C missense_variant False CACNG4@p.D174H 1 0.411111111 ENSG00000075461 chr17:67030540-67030540;G/C missense_variant False CACNG4@p.E196Q 1 0.313131313 ENSG00000075461 chr17:67030606-67030606;G/C missense_variant False CACNG4@p.E212Q 1 0.147058824 ENSG00000075461 chr17:67030654-67030654;G/C missense_variant False CACNG4@p.S97L 1 0.148148148 ENSG00000075461 chr17:67018258-67018258;C/T missense_variant False CACNG5@p.D226N 1 0.119402985 ENSG00000075429 chr17:66885088-66885088;G/A missense_variant False CACNG5@p.E159K 1 0.13253012 ENSG00000075429 chr17:66884566-66884566;G/A missense_variant False CACNG5@p.S273L 1 0.196428571 ENSG00000075429 chr17:66885230-66885230;C/T missense_variant False CACNG5@p.S29T 1 0.260869565 ENSG00000075429 chr17:66877418-66877418;G/C missense_variant False CACNG6@p.E10K 1 0.233333333 ENSG00000130433 chr19:53992905-53992905;G/A missense_variant False CACNG7@p.E49D 1 0.131578947 ENSG00000105605 chr19:53912978-53912978;G/T missense_variant False CACNG7@p.E68Q 1 0.208333333 ENSG00000105605 chr19:53914505-53914505;G/C missense_variant False CADM2@p.I418M 1 0.428571429 ENSG00000175161 chr3:86066729-86066729;C/G missense_variant False CADM2@p.R273Q 1 0.229437229 ENSG00000175161 chr3:85961522-85961522;G/A missense_variant False CADM2@p.R76S 1 0.119402985 ENSG00000175161 chr3:85883307-85883307;G/C missense_variant False CALB1@p.R108K 1 0.236842105 ENSG00000104327 chr8:90069047-90069047;C/T missense_variant False CALCOCO2@p.E141K 1 0.232258065 ENSG00000136436 chr17:48849255-48849255;G/A missense_variant False CALCOCO1@p.R662C 1 0.291666667 ENSG00000012822 chr12:53712036-53712036;G/A missense_variant False CALCOCO1@p.Q310H 1 0.322580645 ENSG00000012822 chr12:53716335-53716335;C/A missense_variant False CALCOCO1@p.E616K 1 0.290322581 ENSG00000012822 chr12:53713152-53713152;C/T missense_variant False CALCOCO1@p.E411K 1 0.340425532 ENSG00000012822 chr12:53715822-53715822;C/T missense_variant False CALCA@p.R72K 1 0.212121212 ENSG00000110680 chr11:14969947-14969947;C/T missense_variant False CALB1@p.L130M 1 0.125 ENSG00000104327 chr8:90065960-90065960;G/T missense_variant False CADPS@p.Y1233C 1 0.306451613 ENSG00000163618 chr3:62438183-62438183;T/C missense_variant False CALB1@p.F23L 1 0.475 ENSG00000104327 chr8:90082629-90082629;G/C missense_variant False CALB1@p.E166K 1 0.085106383 ENSG00000104327 chr8:90063416-90063416;C/T missense_variant False CAGE1@p.R773I 1 0.35106383 ENSG00000164304 chr6:7326874-7326874;C/A missense_variant False CAGE1@p.H695R 1 0.297297297 ENSG00000164304 chr6:7365496-7365496;T/C missense_variant False CAGE1@p.E573Q 1 0.093333333 ENSG00000164304 chr6:7373102-7373102;C/G missense_variant False CAGE1@p.E539K 1 0.434782609 ENSG00000164304 chr6:7373204-7373204;C/T missense_variant False CALCOCO2@p.W55C 1 0.271186441 ENSG00000136436 chr17:48841872-48841872;G/T missense_variant False CALCR@p.E68K 1 0.230769231 ENSG00000004948 chr7:93479357-93479357;C/T missense_variant False CALCR@p.H261Y 1 0.23255814 ENSG00000004948 chr7:93443673-93443673;G/A missense_variant False CALCR@p.K46N 1 0.471698113 ENSG00000004948 chr7:93479421-93479421;C/A missense_variant False CALCR@p.L205V 1 0.053191489 ENSG00000004948 chr7:93460904-93460904;G/C missense_variant False CALCR@p.M48I 1 0.083333333 ENSG00000004948 chr7:93479415-93479415;C/T missense_variant False CALCR@p.P320H 1 0.111111111 ENSG00000004948 chr7:93438079-93438079;G/T missense_variant False CALCR@p.P437L 1 0.130841121 ENSG00000004948 chr7:93426519-93426519;G/A missense_variant False CALCR@p.R436H 1 0.103773585 ENSG00000004948 chr7:93426522-93426522;C/T missense_variant False CALCRL@p.D106G 1 0.284615385 ENSG00000064989 chr2:187380558-187380558;T/C missense_variant False CALCRL@p.E25K 1 0.58974359 ENSG00000064989 chr2:187383284-187383284;C/T missense_variant False CALCRL@p.F410L 1 0.267605634 ENSG00000064989 chr2:187346342-187346342;A/G missense_variant False CALCRL@p.K333Q 1 0.756097561 ENSG00000064989 chr2:187352245-187352245;T/G missense_variant False CALCRL@p.Q107P 1 0.445454545 ENSG00000064989 chr2:187380555-187380555;T/G missense_variant False CALCRL@p.Q45E 1 0.666666667 ENSG00000064989 chr2:187383224-187383224;G/C missense_variant False CALCRL@p.S183L 1 0.287878788 ENSG00000064989 chr2:187363455-187363455;G/A missense_variant False CALCRL@p.V245M 1 0.207317073 ENSG00000064989 chr2:187360646-187360646;C/T missense_variant False CAGE1@p.E307K 1 0.102040816 ENSG00000164304 chr6:7373900-7373900;C/T missense_variant False CADPS@p.T168I 1 0.350574713 ENSG00000163618 chr3:62765923-62765923;G/A missense_variant False CADM2@p.R81H 1 0.24137931 ENSG00000175161 chr3:85883321-85883321;G/A missense_variant False CADPS2@p.D631H 1 0.333333333 ENSG00000081803 chr7:122474488-122474488;C/G missense_variant False CADPS2@p.V146I 1 0.382352941 ENSG00000081803 chr7:122736972-122736972;C/T missense_variant False CADPS2@p.Q758H 1 0.229166667 ENSG00000081803 chr7:122451388-122451388;C/A missense_variant False CADPS2@p.P330L 1 0.133333333 ENSG00000081803 chr7:122621596-122621596;G/A missense_variant False CADPS2@p.M787I 1 0.473684211 ENSG00000081803 chr7:122438456-122438456;C/T missense_variant False CADPS2@p.E745Q 1 0.103448276 ENSG00000081803 chr7:122451429-122451429;C/G missense_variant False CADPS2@p.E353Q 1 0.082758621 ENSG00000081803 chr7:122621528-122621528;C/G missense_variant False CADM4@p.F386L 1 0.200913242 ENSG00000105767 chr19:43623339-43623339;G/C missense_variant False CADPS@p.S670C 1 0.2 ENSG00000163618 chr3:62536539-62536539;G/C missense_variant False CADM4@p.E371K 1 0.259259259 ENSG00000105767 chr19:43623386-43623386;C/T missense_variant False CADM4@p.E142Q 1 0.428571429 ENSG00000105767 chr19:43626859-43626859;C/G missense_variant False CADM4@p.D378E 1 0.054054054 ENSG00000105767 chr19:43623363-43623363;G/T missense_variant False CADM3@p.E366Q 1 0.293577982 ENSG00000162706 chr1:159200821-159200821;G/C missense_variant False CADM3@p.A42_V46del 1 0.254901961 ENSG00000162706 chr1:159191968-159191982;GTGGCTGGTGGCACC/- inframe_deletion False CADM2@p.T235N 1 0.113989637 ENSG00000175161 chr3:85935797-85935797;C/A missense_variant False CADPS2@p.V568L 1 0.052631579 ENSG00000081803 chr7:122490231-122490231;C/A missense_variant False CADPS@p.A262T 1 0.476190476 ENSG00000163618 chr3:62753545-62753545;C/T missense_variant False CADPS@p.D608N 1 0.227722772 ENSG00000163618 chr3:62550047-62550047;C/T missense_variant False CADPS@p.E1085K 1 0.113207547 ENSG00000163618 chr3:62478337-62478337;C/T missense_variant False CADPS@p.E386Q 1 0.154639175 ENSG00000163618 chr3:62650894-62650894;C/G missense_variant False CADPS@p.E437K 1 0.087378641 ENSG00000163618 chr3:62645738-62645738;C/T missense_variant False CADPS@p.E791Q 1 0.293103448 ENSG00000163618 chr3:62518171-62518171;C/G missense_variant False CADPS@p.F592L 1 0.088 ENSG00000163618 chr3:62550093-62550093;G/C missense_variant False CADPS@p.I1290V 1 0.434782609 ENSG00000163618 chr3:62403095-62403095;T/C missense_variant False CADPS@p.I744M 1 0.140186916 ENSG00000163618 chr3:62532930-62532930;G/C missense_variant False CADPS@p.M684K 1 0.328125 ENSG00000163618 chr3:62536497-62536497;A/T missense_variant False CADPS@p.P746S 1 0.323529412 ENSG00000163618 chr3:62532926-62532926;G/A missense_variant False CADPS@p.R1245C 1 0.097560976 ENSG00000163618 chr3:62438148-62438148;G/A missense_variant False CADPS@p.R1301Q 1 0.204301075 ENSG00000163618 chr3:62399566-62399566;C/T missense_variant False CADPS@p.R252Q 1 0.428571429 ENSG00000163618 chr3:62753574-62753574;C/T missense_variant False CADPS@p.R515Q 1 0.428571429 ENSG00000163618 chr3:62585218-62585218;C/T missense_variant False CADPS@p.R852W 1 0.241758242 ENSG00000163618 chr3:62516086-62516086;G/A missense_variant False CACNB1@p.P535S 1 0.162583519 ENSG00000067191 chr17:39175387-39175387;G/A missense_variant False CACNA2D4@p.Q804K 1 0.35 ENSG00000151062 chr12:1844462-1844462;G/T missense_variant False CACNA2D4@p.L537V 1 0.341772152 ENSG00000151062 chr12:1878991-1878991;G/C missense_variant False CACNA1D@p.S1205L 1 0.393939394 ENSG00000157388 chr3:53751846-53751846;C/T missense_variant False CACNA1D@p.W1341R 1 0.113207547 ENSG00000157388 chr3:53770529-53770529;T/C missense_variant False CACNA1D@p.V988Sfs*32 1 0.111111111 ENSG00000157388 chr3:53744781-53744781;G/- frameshift_variant False CACNA1D@p.V520L 1 0.515463918 ENSG00000157388 chr3:53722366-53722366;G/T missense_variant False CACNA1D@p.T49A 1 0.494736842 ENSG00000157388 chr3:53497229-53497229;A/G missense_variant False CACNA1D@p.S652L 1 0.247524752 ENSG00000157388 chr3:53723854-53723854;C/T missense_variant False CACNA1D@p.S1848G 1 0.498207885 ENSG00000157388 chr3:53803529-53803529;A/G missense_variant False CACNA1D@p.Q1955K 1 0.333333333 ENSG00000157388 chr3:53808762-53808762;C/A missense_variant False CACNA1C@p.Q422R 1 0.433333333 ENSG00000151067 chr12:2512859-2512859;A/G missense_variant False CACNA1D@p.M1091Rfs*49 1 0.259259259 ENSG00000157388 chr3:53747406-53747406;T/- frameshift_variant False CACNA1D@p.L34V 1 0.144927536 ENSG00000157388 chr3:53497184-53497184;C/G missense_variant False CACNA1D@p.I1942M 1 0.176470588 ENSG00000157388 chr3:53808725-53808725;C/G missense_variant False CACNA1D@p.I1138T 1 0.179104478 ENSG00000157388 chr3:53749366-53749366;T/C missense_variant False CACNA1D@p.F866L 1 0.49382716 ENSG00000157388 chr3:53732939-53732939;C/G missense_variant False CACNA1C@p.R60Q 1 0.285714286 ENSG00000151067 chr12:2115353-2115353;G/A missense_variant False CACNA1E@p.E1014Q 1 0.12195122 ENSG00000198216 chr1:181733528-181733528;G/C missense_variant False CACNA1E@p.E1398D 1 0.194968553 ENSG00000198216 chr1:181756991-181756991;G/T missense_variant False CACNA1E@p.G1934E 1 0.085106383 ENSG00000198216 chr1:181790459-181790459;G/A missense_variant False CACNA1E@p.L1263V 1 0.333333333 ENSG00000198216 chr1:181752198-181752198;C/G missense_variant False CACNA1E@p.L2272R 1 0.321428571 ENSG00000198216 chr1:181798707-181798707;T/G missense_variant False CACNA1E@p.Q1909L 1 0.069767442 ENSG00000198216 chr1:181785759-181785759;A/T missense_variant False CACNA1E@p.Q1944H 1 0.331606218 ENSG00000198216 chr1:181790490-181790490;G/T missense_variant False CACNA1E@p.R1594H 1 0.755555556 ENSG00000198216 chr1:181763497-181763497;G/A missense_variant False CACNA1E@p.R924C 1 0.238636364 ENSG00000198216 chr1:181732856-181732856;C/T missense_variant False CACNA1E@p.S2173R 1 0.444444444 ENSG00000198216 chr1:181798409-181798409;A/C missense_variant False CACNA1E@p.T1123A 1 0.407407407 ENSG00000198216 chr1:181736379-181736379;A/G missense_variant False CACNA1F@p.A1125V 1 0.55 ENSG00000102001 chrX:49215439-49215439;G/A missense_variant False CACNA1F@p.D1356N 1 0.422680412 ENSG00000102001 chrX:49211965-49211965;C/T missense_variant False CACNA1F@p.D1567H 1 0.058479532 ENSG00000102001 chrX:49209965-49209965;C/G missense_variant False CACNA1F@p.D759N 1 0.607843137 ENSG00000102001 chrX:49222568-49222568;C/T missense_variant False CACNA1F@p.E1032K 1 0.524590164 ENSG00000102001 chrX:49217783-49217783;C/T missense_variant False CACNA1F@p.E1213Q 1 0.172413793 ENSG00000102001 chrX:49214263-49214263;C/G missense_variant False CACNA1C@p.R2081I 1 0.153846154 ENSG00000151067 chr12:2688691-2688691;G/T missense_variant False CACNA1C@p.K609N 1 0.072727273 ENSG00000151067 chr12:2567726-2567726;G/C missense_variant False CACNA1F@p.F1244L 1 0.102941176 ENSG00000102001 chrX:49214168-49214168;G/C missense_variant False CACNA1A@p.M611I 1 0.28125 ENSG00000141837 chr19:13308203-13308203;C/T missense_variant False CACNA1B@p.C1766Y 1 0.340659341 ENSG00000148408 chr9:138102785-138102785;G/A missense_variant False CACNA1B@p.A88T 1 0.441860465 ENSG00000148408 chr9:137878195-137878195;G/A missense_variant False CACNA1A@p.R939W 1 0.447368421 ENSG00000141837 chr19:13298830-13298830;G/A missense_variant False CACNA1A@p.R926Q 1 0.2 ENSG00000141837 chr19:13298868-13298868;C/T missense_variant False CACNA1A@p.R1983P 1 0.375 ENSG00000141837 chr19:13214243-13214243;C/G missense_variant False CACNA1A@p.R1745Q 1 0.136363636 ENSG00000141837 chr19:13234954-13234954;C/T missense_variant False CACNA1A@p.M223I 1 0.185185185 ENSG00000141837 chr19:13365432-13365432;C/T missense_variant False CACNA1C@p.E2049K 1 0.162162162 ENSG00000151067 chr12:2688594-2688594;G/A missense_variant False CACNA1A@p.M220I 1 0.234375 ENSG00000141837 chr19:13365441-13365441;C/T missense_variant False CACNA1A@p.M1227T 1 0.546391753 ENSG00000141837 chr19:13285092-13285092;A/G missense_variant False CACNA1A@p.L1677F 1 0.083333333 ENSG00000141837 chr19:13235670-13235670;G/A missense_variant False CACNA1A@p.G930E 1 0.172413793 ENSG00000141837 chr19:13298856-13298856;C/T missense_variant False CACNA1A@p.G1869S 1 0.15 ENSG00000141837 chr19:13227469-13227469;C/T missense_variant False CACNA1A@p.G1462E 1 0.25 ENSG00000141837 chr19:13259579-13259579;C/T missense_variant False CACNA1B@p.E1672K 1 0.5 ENSG00000148408 chr9:138078178-138078178;G/A missense_variant False CACNA1B@p.E2267K 1 0.257142857 ENSG00000148408 chr9:138121778-138121778;G/A missense_variant False CACNA1B@p.E382K 1 0.533333333 ENSG00000148408 chr9:137955771-137955771;G/A missense_variant False CACNA1B@p.F346L 1 0.089285714 ENSG00000148408 chr9:137952345-137952345;C/A missense_variant False CACNA1B@p.G1763E 1 0.961538462 ENSG00000148408 chr9:138102776-138102776;G/A missense_variant False CACNA1B@p.I566M 1 0.428571429 ENSG00000148408 chr9:137984179-137984179;C/G missense_variant False CACNA1B@p.L1157F 1 0.538461538 ENSG00000148408 chr9:138046959-138046959;C/T missense_variant False CACNA1B@p.R1257Q 1 0.2 ENSG00000148408 chr9:138052151-138052151;G/A missense_variant False CACNA1B@p.R189Q 1 0.338709677 ENSG00000148408 chr9:137913215-137913215;G/A missense_variant False CACNA1B@p.R1913Q 1 0.31 ENSG00000148408 chr9:138115640-138115640;G/A missense_variant False CACNA1B@p.S753A 1 0.230769231 ENSG00000148408 chr9:138013225-138013225;T/G missense_variant False CACNA1B@p.T2193K 1 0.454545455 ENSG00000148408 chr9:138121557-138121557;C/A missense_variant False CACNA1B@p.V558I 1 0.285714286 ENSG00000148408 chr9:137984153-137984153;G/A missense_variant False CACNA1C@p.A1675T 1 0.632653061 ENSG00000151067 chr12:2677799-2677799;G/A missense_variant False CACNA1C@p.D150Y 1 0.054054054 ENSG00000151067 chr12:2120401-2120401;G/T missense_variant False CACNA1C@p.D457H 1 0.173913043 ENSG00000151067 chr12:2512963-2512963;G/C missense_variant False CACNA1C@p.D714N 1 0.458333333 ENSG00000151067 chr12:2582858-2582858;G/A missense_variant False CACNA1F@p.E1900K 1 0.481481481 ENSG00000102001 chrX:49205621-49205621;C/T missense_variant False CACNA1G@p.A1731V 1 0.166666667 ENSG00000006283 chr17:50617895-50617895;C/T missense_variant False CACNA2D4@p.E789K 1 0.234042553 ENSG00000151062 chr12:1844507-1844507;C/T missense_variant False CACNA2D1@p.E1019K 1 0.277777778 ENSG00000153956 chr7:81959777-81959777;C/T missense_variant False CACNA2D1@p.N154D 1 0.288888889 ENSG00000153956 chr7:82117110-82117110;T/C missense_variant False CACNA2D1@p.L853V 1 0.227272727 ENSG00000153956 chr7:81965647-81965647;G/C missense_variant False CACNA2D1@p.L11V 1 0.111111111 ENSG00000153956 chr7:82443429-82443429;G/C missense_variant False CACNA2D1@p.G836S 1 0.28125 ENSG00000153956 chr7:81967201-81967201;C/T missense_variant False CACNA2D1@p.G329E 1 0.274193548 ENSG00000153956 chr7:82038129-82038129;C/T missense_variant False CACNA2D1@p.E198K 1 0.75 ENSG00000153956 chr7:82084835-82084835;C/T missense_variant False CACNA2D1@p.D737H 1 0.135416667 ENSG00000153956 chr7:81970706-81970706;C/G missense_variant False CACNA1S@p.G1347R 1 0.394736842 ENSG00000081248 chr1:201051058-201051058;C/T missense_variant False CACNA2D1@p.D300H 1 0.309278351 ENSG00000153956 chr7:82038217-82038217;C/G missense_variant False CACNA2D1@p.D116Y 1 0.128440367 ENSG00000153956 chr7:82170558-82170558;C/A missense_variant False CACNA2D1@p.D1057H 1 0.113207547 ENSG00000153956 chr7:81959301-81959301;C/G missense_variant False CACNA1S@p.R823W 1 0.5625 ENSG00000081248 chr1:201069495-201069495;G/A missense_variant False CACNA1S@p.P1871A 1 0.085365854 ENSG00000081248 chr1:201039842-201039842;G/C missense_variant False CACNA1S@p.M1451I 1 0.21875 ENSG00000081248 chr1:201048670-201048670;C/T missense_variant False CACNA2D1@p.N55D 1 0.470588235 ENSG00000153956 chr7:82349582-82349582;T/C missense_variant False CACNA2D1@p.N844K 1 0.341772152 ENSG00000153956 chr7:81967175-81967175;G/T missense_variant False CACNA2D1@p.Q162H 1 0.439393939 ENSG00000153956 chr7:82117084-82117084;C/A missense_variant False CACNA2D1@p.R144K 1 0.155172414 ENSG00000153956 chr7:82117139-82117139;C/T missense_variant False CACNA2D1@p.R197H 1 0.327868852 ENSG00000153956 chr7:82084837-82084837;C/T missense_variant False CACNA2D1@p.S29L 1 0.21875 ENSG00000153956 chr7:82443374-82443374;G/A missense_variant False CACNA2D1@p.Y1083N 1 0.153846154 ENSG00000153956 chr7:81950457-81950457;A/T missense_variant False CACNA2D2@p.E106D 1 0.330434783 ENSG00000007402 chr3:50434400-50434400;C/A missense_variant False CACNA2D2@p.V524M 1 0.323529412 ENSG00000007402 chr3:50377523-50377523;C/T missense_variant False CACNA2D3@p.E809K 1 0.3 ENSG00000157445 chr3:54899844-54899844;G/A missense_variant False CACNA2D3@p.M955I 1 0.150943396 ENSG00000157445 chr3:55009433-55009433;G/A missense_variant False CACNA2D3@p.R630P 1 0.16080402 ENSG00000157445 chr3:54880840-54880840;G/C missense_variant False CACNA2D3@p.S978P 1 0.106382979 ENSG00000157445 chr3:55018262-55018262;T/C missense_variant False CACNA2D3@p.V977I 1 0.333333333 ENSG00000157445 chr3:55018259-55018259;G/A missense_variant False CACNA2D4@p.A232V 1 0.6 ENSG00000151062 chr12:1907526-1907526;G/A missense_variant False CACNA2D4@p.E186K 1 0.318181818 ENSG00000151062 chr12:1907968-1907968;C/T missense_variant False CACNA2D4@p.E416Q 1 0.227272727 ENSG00000151062 chr12:1884794-1884794;C/G missense_variant False CACNA1S@p.G1514R 1 0.271428571 ENSG00000081248 chr1:201047528-201047528;C/T missense_variant False CACNA1S@p.F1402L 1 0.328947368 ENSG00000081248 chr1:201050424-201050424;G/C missense_variant False CACNA1G@p.D1198N 1 0.45 ENSG00000006283 chr17:50599761-50599761;G/A missense_variant False CACNA1G@p.P2238L 1 0.366666667 ENSG00000006283 chr17:50626330-50626330;C/T missense_variant False CACNA1H@p.E1575K 1 0.315789474 ENSG00000196557 chr16:1212102-1212102;G/A missense_variant False CACNA1H@p.A2344V 1 0.163265306 ENSG00000196557 chr16:1220963-1220963;C/T missense_variant False CACNA1H@p.A2198V 1 0.265306122 ENSG00000196557 chr16:1220525-1220525;C/T missense_variant False CACNA1G@p.V230I 1 0.285714286 ENSG00000006283 chr17:50571979-50571979;G/A missense_variant False CACNA1G@p.T1177I 1 0.264150943 ENSG00000006283 chr17:50599699-50599699;C/T missense_variant False CACNA1G@p.R1297H 1 0.462686567 ENSG00000006283 chr17:50601149-50601149;G/A missense_variant False CACNA1G@p.P2063L 1 0.139534884 ENSG00000006283 chr17:50624034-50624034;C/T missense_variant False CACNA1S@p.E54Q 1 0.258064516 ENSG00000081248 chr1:201110262-201110262;C/G missense_variant False CACNA1G@p.L1998V 1 0.119402985 ENSG00000006283 chr17:50621726-50621726;C/G missense_variant False CACNA1G@p.L1998I 1 0.289473684 ENSG00000006283 chr17:50621726-50621726;C/A missense_variant False CACNA1G@p.G1806D 1 0.114942529 ENSG00000006283 chr17:50618333-50618333;G/A missense_variant False CACNA1G@p.E2236K 1 0.139534884 ENSG00000006283 chr17:50626323-50626323;G/A missense_variant False CACNA1G@p.E1227K 1 0.388888889 ENSG00000006283 chr17:50599848-50599848;G/A missense_variant False CACNA1G@p.D719H 1 0.197674419 ENSG00000006283 chr17:50578418-50578418;G/C missense_variant False CACNA1H@p.E1700K 1 0.3 ENSG00000196557 chr16:1215300-1215300;G/A missense_variant False CACNA1H@p.E2164K 1 0.125 ENSG00000196557 chr16:1220422-1220422;G/A missense_variant False CACNA1H@p.E819K 1 0.346938776 ENSG00000196557 chr16:1205117-1205117;G/A missense_variant False CACNA1H@p.F1544L 1 0.323636364 ENSG00000196557 chr16:1212011-1212011;C/G missense_variant False CACNA1H@p.P2264L 1 0.357142857 ENSG00000196557 chr16:1220723-1220723;C/T missense_variant False CACNA1H@p.R1046T 1 0.238095238 ENSG00000196557 chr16:1207843-1207843;G/C missense_variant False CACNA1H@p.T226M 1 0.363636364 ENSG00000196557 chr16:1198648-1198648;C/T missense_variant False CACNA1H@p.V240I 1 0.109375 ENSG00000196557 chr16:1198689-1198689;G/A missense_variant False CACNA1I@p.A232E 1 0.135802469 ENSG00000100346 chr22:39634679-39634679;C/A missense_variant False CACNA1I@p.D43N 1 0.58 ENSG00000100346 chr22:39570879-39570879;G/A missense_variant False CACNA1I@p.E1143K 1 0.210526316 ENSG00000100346 chr22:39662830-39662830;G/A missense_variant False CACNA1I@p.E1895K 1 0.341176471 ENSG00000100346 chr22:39682514-39682514;G/A missense_variant False CACNA1I@p.I1194M 1 0.231788079 ENSG00000100346 chr22:39663826-39663826;C/G missense_variant False CACNA1I@p.L1997V 1 0.217391304 ENSG00000100346 chr22:39684460-39684460;C/G missense_variant False CACNA1S@p.A1444V 1 0.15625 ENSG00000081248 chr1:201049010-201049010;G/A missense_variant False CACNA1S@p.D1186H 1 0.090909091 ENSG00000081248 chr1:201058461-201058461;C/G missense_variant False CACNA1S@p.E216G 1 0.069230769 ENSG00000081248 chr1:201091687-201091687;T/C missense_variant False BLM@p.D1079N 1 0.507246377 ENSG00000197299 chr15:90798214-90798214;G/A missense_variant False BLK@p.S147Pfs*20 1 0.184615385 ENSG00000136573 chr8:11550221-11550222;-/GGCCG frameshift_variant False BLK@p.E284Q 1 0.32 ENSG00000136573 chr8:11556735-11556735;G/C missense_variant False ASXL3@p.D1853N 1 0.186868687 ENSG00000141431 chr18:33745405-33745405;G/A missense_variant False ASXL3@p.H229Y 1 0.266666667 ENSG00000141431 chr18:33671836-33671836;C/T missense_variant False ASXL3@p.G1091A 1 0.205357143 ENSG00000141431 chr18:33743120-33743120;G/C missense_variant False ASXL3@p.F972C 1 0.333333333 ENSG00000141431 chr18:33740319-33740319;T/G missense_variant False ASXL3@p.F149Y 1 0.147058824 ENSG00000141431 chr18:33661706-33661706;T/A missense_variant False ASXL3@p.E538Q 1 0.545454545 ENSG00000141431 chr18:33739016-33739016;G/C missense_variant False ASXL3@p.E1718K 1 0.098765432 ENSG00000141431 chr18:33745000-33745000;G/A missense_variant False ASXL3@p.D1612N 1 0.380952381 ENSG00000141431 chr18:33744682-33744682;G/A missense_variant False ASXL3@p.K2141E 1 0.289256198 ENSG00000141431 chr18:33746269-33746269;A/G missense_variant False ASXL3@p.A1726G 1 0.383838384 ENSG00000141431 chr18:33745025-33745025;C/G missense_variant False ASXL3@p.A1112T 1 0.447761194 ENSG00000141431 chr18:33743182-33743182;G/A missense_variant False ASXL2@p.S64F 1 0.12195122 ENSG00000143970 chr2:25806290-25806290;G/A missense_variant False ASXL2@p.S195L 1 0.131578947 ENSG00000143970 chr2:25768789-25768789;G/A missense_variant False ASXL2@p.S1343F 1 0.307692308 ENSG00000143970 chr2:25742309-25742309;G/A missense_variant False ASXL2@p.R711T 1 0.574257426 ENSG00000143970 chr2:25744205-25744205;C/G missense_variant False ASXL3@p.I1057F 1 0.310344828 ENSG00000141431 chr18:33743017-33743017;A/T missense_variant False ASXL3@p.M1708I 1 0.438596491 ENSG00000141431 chr18:33744972-33744972;G/A missense_variant False ATF7@p.D131H 1 0.360655738 ENSG00000170653 chr12:53537459-53537459;C/G missense_variant False ATAD1@p.D283H 1 0.052631579 ENSG00000138138 chr10:87756907-87756907;C/G missense_variant False ATAD2@p.D272H 1 0.178571429 ENSG00000156802 chr8:123369938-123369938;C/G missense_variant False ATAD2@p.D264N 1 0.671232877 ENSG00000156802 chr8:123369962-123369962;C/T missense_variant False ATAD2@p.D1371Y 1 0.357894737 ENSG00000156802 chr8:123322958-123322958;C/A missense_variant False ATAD2@p.D1136N 1 0.165467626 ENSG00000156802 chr8:123333950-123333950;C/T missense_variant False ATAD2@p.D1020H 1 0.202614379 ENSG00000156802 chr8:123336526-123336526;C/G missense_variant False ATAD1@p.K104N 1 0.106382979 ENSG00000138138 chr10:87790380-87790380;T/A missense_variant False ASZ1@p.S413T 1 0.208333333 ENSG00000154438 chr7:117367389-117367389;C/G missense_variant False ASXL3@p.S1235F 1 0.054794521 ENSG00000141431 chr18:33743552-33743552;C/T missense_variant False ASZ1@p.G172E 1 0.377358491 ENSG00000154438 chr7:117385735-117385735;C/T missense_variant False ASZ1@p.A92V 1 0.065420561 ENSG00000154438 chr7:117422290-117422290;G/A missense_variant False ASXL3@p.S730L 1 0.204301075 ENSG00000141431 chr18:33739593-33739593;C/T missense_variant False ASXL3@p.S542C 1 0.222222222 ENSG00000141431 chr18:33739029-33739029;C/G missense_variant False ASXL3@p.S395C 1 0.068181818 ENSG00000141431 chr18:33738588-33738588;C/G missense_variant False ASXL3@p.S1275F 1 0.068181818 ENSG00000141431 chr18:33743672-33743672;C/T missense_variant False ASXL2@p.R443K 1 0.083743842 ENSG00000143970 chr2:25750228-25750228;C/T missense_variant False ASXL2@p.R263G 1 0.424657534 ENSG00000143970 chr2:25759634-25759634;T/C missense_variant False ASXL2@p.Q260H 1 0.447916667 ENSG00000143970 chr2:25759641-25759641;T/G missense_variant False ASXL1@p.N1343K 1 0.317460317 ENSG00000171456 chr20:32436741-32436741;C/G missense_variant True ASXL1@p.S1269L 1 0.225 ENSG00000171456 chr20:32436518-32436518;C/T missense_variant True ASXL1@p.S1169Y 1 0.482352941 ENSG00000171456 chr20:32436218-32436218;C/A missense_variant True ASXL1@p.R419K 1 0.088888889 ENSG00000171456 chr20:32433454-32433454;G/A missense_variant True ASXL1@p.R411L 1 0.141509434 ENSG00000171456 chr20:32433430-32433430;G/T missense_variant True ASXL1@p.R1090T 1 0.21875 ENSG00000171456 chr20:32435981-32435981;G/C missense_variant True ASXL1@p.P1062S 1 0.365019011 ENSG00000171456 chr20:32435896-32435896;C/T missense_variant True ASXL1@p.I268S 1 0.390909091 ENSG00000171456 chr20:32431405-32431405;T/G missense_variant True ASXL2@p.N864H 1 0.454545455 ENSG00000143970 chr2:25743747-25743747;T/G missense_variant False ASXL1@p.E1228Q 1 0.294871795 ENSG00000171456 chr20:32436394-32436394;G/C missense_variant True ASXL1@p.E1132K 1 0.275362319 ENSG00000171456 chr20:32436106-32436106;G/A missense_variant True ASXL1@p.D544N 1 0.054621849 ENSG00000171456 chr20:32433828-32433828;G/A missense_variant True ASXL1@p.D1526N 1 0.049079755 ENSG00000171456 chr20:32437288-32437288;G/A missense_variant True ASXL1@p.A316V 1 0.170731707 ENSG00000171456 chr20:32431647-32431647;C/T missense_variant True ASTN2@p.S965L 1 0.2 ENSG00000148219 chr9:116651706-116651706;G/A missense_variant False ASXL1@p.V1279M 1 0.580645161 ENSG00000171456 chr20:32436547-32436547;G/A missense_variant True ASXL2@p.A1041S 1 0.658536585 ENSG00000143970 chr2:25743216-25743216;C/A missense_variant False ASXL2@p.A681V 1 0.314606742 ENSG00000143970 chr2:25744295-25744295;G/A missense_variant False ASXL2@p.E112K 1 0.155339806 ENSG00000143970 chr2:25799454-25799454;C/T missense_variant False ASXL2@p.E272Q 1 0.372222222 ENSG00000143970 chr2:25759607-25759607;C/G missense_variant False ASXL2@p.E359K 1 0.363636364 ENSG00000143970 chr2:25753601-25753601;C/T missense_variant False ASXL2@p.E361Q 1 0.191044776 ENSG00000143970 chr2:25753595-25753595;C/G missense_variant False ASXL2@p.E375K 1 0.266055046 ENSG00000143970 chr2:25753553-25753553;C/T missense_variant False ASXL2@p.E486Q 1 0.164893617 ENSG00000143970 chr2:25750100-25750100;C/G missense_variant False ASXL2@p.F1416S 1 0.065789474 ENSG00000143970 chr2:25742090-25742090;A/G missense_variant False ASXL2@p.G735E 1 0.155688623 ENSG00000143970 chr2:25744133-25744133;C/T missense_variant False ASXL2@p.G76S 1 0.108695652 ENSG00000143970 chr2:25806255-25806255;C/T missense_variant False ASXL2@p.H1215Y 1 0.191489362 ENSG00000143970 chr2:25742694-25742694;G/A missense_variant False ASXL2@p.L1159F 1 0.311111111 ENSG00000143970 chr2:25742860-25742860;C/G missense_variant False ASXL2@p.L53F 1 0.25 ENSG00000143970 chr2:25806324-25806324;G/A missense_variant False ASXL2@p.M551I 1 0.25 ENSG00000143970 chr2:25749903-25749903;C/T missense_variant False ASXL2@p.N63D 1 0.333333333 ENSG00000143970 chr2:25806294-25806294;T/C missense_variant False ATAD2@p.E1199K 1 0.176829268 ENSG00000156802 chr8:123328463-123328463;C/T missense_variant False ATAD2@p.E1331K 1 0.3125 ENSG00000156802 chr8:123325904-123325904;C/T missense_variant False ATAD2@p.E203Q 1 0.214285714 ENSG00000156802 chr8:123371268-123371268;C/G missense_variant False ATAD5@p.V1001I 1 0.105882353 ENSG00000176208 chr17:30860477-30860477;G/A missense_variant False ATE1@p.G155E 1 0.493506494 ENSG00000107669 chr10:121911025-121911025;C/T missense_variant False ATE1@p.E462K 1 0.174757282 ENSG00000107669 chr10:121743853-121743853;C/T missense_variant False ATE1@p.E18K 1 0.181818182 ENSG00000107669 chr10:121927898-121927898;C/T missense_variant False ATCAY@p.V299A 1 0.176470588 ENSG00000167654 chr19:3913787-3913787;T/C missense_variant False ATAT1@p.Q395E 1 0.25 ENSG00000137343 chr6:30646560-30646560;C/G missense_variant False ATAD5@p.Y963C 1 0.409090909 ENSG00000176208 chr17:30858255-30858255;A/G missense_variant False ATAD5@p.S1355C 1 0.093457944 ENSG00000176208 chr17:30879473-30879473;A/T missense_variant False ATAD5@p.L434V 1 0.121212121 ENSG00000176208 chr17:30835381-30835381;C/G missense_variant False ATAD5@p.S1107L 1 0.342465753 ENSG00000176208 chr17:30869254-30869254;C/T missense_variant False ATAD5@p.R848W 1 0.4375 ENSG00000176208 chr17:30855234-30855234;C/T missense_variant False ATAD5@p.R523S 1 0.245614035 ENSG00000176208 chr17:30835650-30835650;G/C missense_variant False ATAD5@p.R50T 1 0.264 ENSG00000176208 chr17:30834230-30834230;G/C missense_variant False ATAD5@p.R211T 1 0.097087379 ENSG00000176208 chr17:30834713-30834713;G/C missense_variant False ATAD5@p.P56T 1 0.12244898 ENSG00000176208 chr17:30834247-30834247;C/A missense_variant False ATE1@p.H189N 1 0.25 ENSG00000107669 chr10:121910924-121910924;G/T missense_variant False ATE1@p.H90D 1 0.3 ENSG00000107669 chr10:121913859-121913859;G/C missense_variant False ATE1@p.S41F 1 0.47008547 ENSG00000107669 chr10:121924314-121924314;G/A missense_variant False ATF1@p.G124S 1 0.328767123 ENSG00000123268 chr12:50814051-50814051;G/A missense_variant False ATF2@p.E93Q 1 0.205479452 ENSG00000115966 chr2:175118292-175118292;C/G missense_variant False ATF4@p.D21H 1 0.160714286 ENSG00000128272 chr22:39521506-39521506;G/C missense_variant False ATF4@p.D336Y 1 0.189189189 ENSG00000128272 chr22:39522552-39522552;G/T missense_variant False ATF4@p.E60K 1 0.065789474 ENSG00000128272 chr22:39521623-39521623;G/A missense_variant False ATF6@p.E329Q 1 0.058333333 ENSG00000118217 chr1:161819708-161819708;G/C missense_variant False ATF6@p.E456K 1 0.031914894 ENSG00000118217 chr1:161851768-161851768;G/A missense_variant False ATF6@p.G260R 1 0.264705882 ENSG00000118217 chr1:161802141-161802141;G/A missense_variant False ATF6@p.S143F 1 0.625 ENSG00000118217 chr1:161791481-161791481;C/T missense_variant False ATF6B@p.D12Y 1 0.483870968 ENSG00000213676 chr6:32128174-32128174;C/A missense_variant False ATF6B@p.E444K 1 0.411764706 ENSG00000213676 chr6:32117953-32117953;C/T missense_variant False ATF6B@p.G450V 1 0.333333333 ENSG00000213676 chr6:32117934-32117934;C/A missense_variant False ATF6B@p.K347N 1 0.407894737 ENSG00000213676 chr6:32119067-32119067;T/G missense_variant False ATF6B@p.S99F 1 0.230769231 ENSG00000213676 chr6:32127149-32127149;G/A missense_variant False ATAD5@p.M404I 1 0.206349206 ENSG00000176208 chr17:30835293-30835293;G/A missense_variant False ATAD5@p.L1784V 1 0.103448276 ENSG00000176208 chr17:30894616-30894616;C/G missense_variant False ATAD2@p.E246K 1 0.538461538 ENSG00000156802 chr8:123370016-123370016;C/T missense_variant False ATAD2@p.N319S 1 0.181818182 ENSG00000156802 chr8:123369151-123369151;T/C missense_variant False ATAD2B@p.H585Y 1 0.085106383 ENSG00000119778 chr2:23828915-23828915;G/A missense_variant False ATAD2B@p.D186H 1 0.262626263 ENSG00000119778 chr2:23887848-23887848;C/G missense_variant False ATAD2@p.R847G 1 0.35915493 ENSG00000156802 chr8:123345063-123345063;G/C missense_variant False ATAD2@p.R72S 1 0.223076923 ENSG00000156802 chr8:123380635-123380635;G/T missense_variant False ATAD2@p.R722T 1 0.148648649 ENSG00000156802 chr8:123347139-123347139;C/G missense_variant False ATAD2@p.P1019S 1 0.289855072 ENSG00000156802 chr8:123336529-123336529;G/A missense_variant False ATAD2@p.L4F 1 0.264705882 ENSG00000156802 chr8:123396348-123396348;G/A missense_variant False ATAD5@p.L1416F 1 0.1375 ENSG00000176208 chr17:30887362-30887362;A/C missense_variant False ATAD2@p.L1239F 1 0.238095238 ENSG00000156802 chr8:123328341-123328341;C/G missense_variant False ATAD2@p.G762R 1 0.280701754 ENSG00000156802 chr8:123346679-123346679;C/T missense_variant False ATAD2@p.E909Q 1 0.161290323 ENSG00000156802 chr8:123339440-123339440;C/G missense_variant False ATAD2@p.E909K 1 0.258426966 ENSG00000156802 chr8:123339440-123339440;C/T missense_variant False ATAD2@p.E440Q 1 0.197478992 ENSG00000156802 chr8:123359285-123359285;C/G missense_variant False ATAD2@p.E396K 1 0.076923077 ENSG00000156802 chr8:123359657-123359657;C/T missense_variant False ATAD2B@p.K103N 1 0.630769231 ENSG00000119778 chr2:23895878-23895878;T/A missense_variant False ATAD2B@p.Q1313E 1 0.413793103 ENSG00000119778 chr2:23757559-23757559;G/C missense_variant False ATAD2B@p.T731N 1 0.391304348 ENSG00000119778 chr2:23819822-23819822;G/T missense_variant False ATAD3B@p.V208L 1 0.24 ENSG00000160072 chr1:1485815-1485815;G/T missense_variant False ATAD5@p.A1548Lfs*11 1 0.220338983 ENSG00000176208 chr17:30893495-30893495;G/- frameshift_variant False ATAD5@p.D150A 1 0.211382114 ENSG00000176208 chr17:30834530-30834530;A/C missense_variant False ATAD5@p.D1690N 1 0.144444444 ENSG00000176208 chr17:30893921-30893921;G/A missense_variant False ATAD5@p.D1740G 1 0.264367816 ENSG00000176208 chr17:30894072-30894072;A/G missense_variant False ATAD5@p.D571N 1 0.171875 ENSG00000176208 chr17:30835792-30835792;G/A missense_variant False ATAD5@p.E1004Q 1 0.406779661 ENSG00000176208 chr17:30860486-30860486;G/C missense_variant False ATAD5@p.E359K 1 0.164179104 ENSG00000176208 chr17:30835156-30835156;G/A missense_variant False ATAD5@p.E582K 1 0.209876543 ENSG00000176208 chr17:30835825-30835825;G/A missense_variant False ATAD5@p.E635Q 1 0.269230769 ENSG00000176208 chr17:30835984-30835984;G/C missense_variant False ATAD5@p.E915K 1 0.292307692 ENSG00000176208 chr17:30857062-30857062;G/A missense_variant False ATAD5@p.G1617Qfs*13 1 0.109677419 ENSG00000176208 chr17:30893699-30893703;AAAGG/- frameshift_variant False ATAD5@p.K483N 1 0.21978022 ENSG00000176208 chr17:30835530-30835530;G/T missense_variant False ATAD5@p.K502N 1 0.254901961 ENSG00000176208 chr17:30835587-30835587;G/C missense_variant False ASTN2@p.S749Y 1 0.149122807 ENSG00000148219 chr9:116805782-116805782;G/T missense_variant False ASTN2@p.M177I 1 0.3875 ENSG00000148219 chr9:117291425-117291425;C/T missense_variant False ASTN2@p.L290M 1 0.277777778 ENSG00000148219 chr9:117214505-117214505;G/T missense_variant False ASIC5@p.H323Y 1 0.051851852 ENSG00000256394 chr4:155842249-155842249;G/A missense_variant False ASIP@p.D2H 1 0.369047619 ENSG00000101440 chr20:34260378-34260378;G/C missense_variant False ASIC5@p.Q305K 1 0.660714286 ENSG00000256394 chr4:155842303-155842303;G/T missense_variant False ASIC5@p.P490R 1 0.166666667 ENSG00000256394 chr4:155829905-155829905;G/C missense_variant False ASIC5@p.P31A 1 0.546296296 ENSG00000256394 chr4:155863704-155863704;G/C missense_variant False ASIC5@p.P294H 1 0.441860465 ENSG00000256394 chr4:155842335-155842335;G/T missense_variant False ASIC5@p.L64F 1 0.168421053 ENSG00000256394 chr4:155863605-155863605;G/A missense_variant False ASIC5@p.D250N 1 0.323529412 ENSG00000256394 chr4:155843794-155843794;C/T missense_variant False ASIC2@p.V50M 1 0.449275362 ENSG00000108684 chr17:34156385-34156385;C/T missense_variant False ASIC4@p.S316C 1 0.6 ENSG00000072182 chr2:219532406-219532406;C/G missense_variant False ASIC4@p.R334Q 1 0.434782609 ENSG00000072182 chr2:219532460-219532460;G/A missense_variant False ASIC4@p.E387D 1 0.428571429 ENSG00000072182 chr2:219535313-219535313;G/C missense_variant False ASIC4@p.D146H 1 0.388888889 ENSG00000072182 chr2:219515160-219515160;G/C missense_variant False ASIC3@p.T524N 1 0.215189873 ENSG00000213199 chr7:151052627-151052627;C/A missense_variant False ASIC3@p.E220K 1 0.372093023 ENSG00000213199 chr7:151050229-151050229;G/A missense_variant False ASL@p.D212H 1 0.371428571 ENSG00000126522 chr7:66087365-66087365;G/C missense_variant False ASL@p.E148Q 1 0.414634146 ENSG00000126522 chr7:66083170-66083170;G/C missense_variant False ASL@p.L377V 1 0.142857143 ENSG00000126522 chr7:66092072-66092072;C/G missense_variant False ASL@p.S247L 1 0.1875 ENSG00000126522 chr7:66088828-66088828;C/T missense_variant False ASMT@p.H221Q 1 0.172043011 ENSG00000292336 chrX:1633250-1633250;C/A missense_variant False ASMTL@p.A518S 1 0.168224299 ENSG00000292339 chrX:1412825-1412825;C/A missense_variant False ASMTL@p.E290Q 1 0.114754098 ENSG00000292339 chrX:1427763-1427763;C/G missense_variant False ASMTL@p.E397K 1 0.350553506 ENSG00000292339 chrX:1421714-1421714;C/T missense_variant False ASMTL@p.R396Q 1 0.350272232 ENSG00000292339 chrX:1421716-1421716;C/T missense_variant False ASNS@p.P419Hfs*3 1 0.103448276 ENSG00000070669 chr7:97853369-97853369;G/- frameshift_variant False ASNSD1@p.E209K 1 0.197530864 ENSG00000138381 chr2:189666757-189666757;G/A missense_variant False ASNSD1@p.E21Q 1 0.333333333 ENSG00000138381 chr2:189666193-189666193;G/C missense_variant False ASNSD1@p.E525Q 1 0.843373494 ENSG00000138381 chr2:189667872-189667872;G/C missense_variant False ASNSD1@p.F273L 1 0.387596899 ENSG00000138381 chr2:189666949-189666949;T/C missense_variant False ASNSD1@p.S185C 1 0.12195122 ENSG00000138381 chr2:189666686-189666686;C/G missense_variant False ASNSD1@p.S219L 1 0.134328358 ENSG00000138381 chr2:189666788-189666788;C/T missense_variant False ASNSD1@p.S332T 1 0.158995816 ENSG00000138381 chr2:189667126-189667126;T/A missense_variant False ASIC2@p.Y397H 1 0.057142857 ENSG00000108684 chr17:33023868-33023868;A/G missense_variant False ASIC2@p.E135K 1 0.174193548 ENSG00000108684 chr17:34156130-34156130;C/T missense_variant False ASPA@p.H21D 1 0.518518519 ENSG00000108381 chr17:3476220-3476220;C/G missense_variant False ASH1L@p.E1725K 1 0.184210526 ENSG00000116539 chr1:155438982-155438982;C/T missense_variant False ASH1L@p.H1794Y 1 0.612903226 ENSG00000116539 chr1:155438775-155438775;G/A missense_variant False ASH1L@p.H1250L 1 0.724511931 ENSG00000116539 chr1:155479121-155479121;T/A missense_variant False ASH1L@p.H1192Y 1 0.38372093 ENSG00000116539 chr1:155479296-155479296;G/A missense_variant False ASH1L@p.G498V 1 0.111111111 ENSG00000116539 chr1:155481377-155481377;C/A missense_variant False ASH1L@p.E2569Q 1 0.150793651 ENSG00000116539 chr1:155347769-155347769;C/G missense_variant False ASH1L@p.E1946K 1 0.15625 ENSG00000116539 chr1:155415916-155415916;C/T missense_variant False ASH1L@p.E1690K 1 0.169811321 ENSG00000116539 chr1:155459815-155459815;C/T missense_variant False ASIC2@p.D130Y 1 0.361111111 ENSG00000108684 chr17:34156145-34156145;C/A missense_variant False ASH1L@p.D771H 1 0.228915663 ENSG00000116539 chr1:155480559-155480559;C/G missense_variant False ASH1L@p.D64N 1 0.321144674 ENSG00000116539 chr1:155521330-155521330;C/T missense_variant False ASH1L@p.D2680N 1 0.094594595 ENSG00000116539 chr1:155343701-155343701;C/T missense_variant False ASH1L@p.D2629H 1 0.418367347 ENSG00000116539 chr1:155346403-155346403;C/G missense_variant False ASH1L@p.D2512N 1 0.230769231 ENSG00000116539 chr1:155349362-155349362;C/T missense_variant False ASH1L@p.D2512H 1 0.045977011 ENSG00000116539 chr1:155349362-155349362;C/G missense_variant False ASH1L@p.L1453V 1 0.192857143 ENSG00000116539 chr1:155478513-155478513;G/C missense_variant False ASH1L@p.L998F 1 0.058823529 ENSG00000116539 chr1:155479876-155479876;C/G missense_variant False ASH1L@p.M959I 1 0.229885057 ENSG00000116539 chr1:155479993-155479993;C/T missense_variant False ASH1L@p.P1436A 1 0.3671875 ENSG00000116539 chr1:155478564-155478564;G/C missense_variant False ASH1L@p.Q2499H 1 0.306451613 ENSG00000116539 chr1:155349399-155349399;C/A missense_variant False ASH1L@p.R2007Q 1 0.4 ENSG00000116539 chr1:155395542-155395542;C/T missense_variant False ASH1L@p.R2219Q 1 0.190082645 ENSG00000116539 chr1:155370549-155370549;C/T missense_variant False ASH1L@p.R778Q 1 0.170588235 ENSG00000116539 chr1:155480537-155480537;C/T missense_variant False ASH1L@p.S1468C 1 0.527027027 ENSG00000116539 chr1:155478468-155478468;T/A missense_variant False ASH1L@p.S1694L 1 0.285714286 ENSG00000116539 chr1:155459802-155459802;G/A missense_variant False ASH1L@p.V525I 1 0.316666667 ENSG00000116539 chr1:155481297-155481297;C/T missense_variant False ASH2L@p.P266S 1 0.414634146 ENSG00000129691 chr8:38116668-38116668;C/T missense_variant False ASIC1@p.D164N 1 0.254237288 ENSG00000110881 chr12:50059886-50059886;G/A missense_variant False ASIC1@p.D183N 1 0.098039216 ENSG00000110881 chr12:50059943-50059943;G/A missense_variant False ASIC1@p.K392N 1 0.102564103 ENSG00000110881 chr12:50080026-50080026;G/T missense_variant False ASIC1@p.L319V 1 0.476744186 ENSG00000110881 chr12:50078538-50078538;C/G missense_variant False ASIC1@p.M507I 1 0.111111111 ENSG00000110881 chr12:50081583-50081583;G/C missense_variant False ASPA@p.A287T 1 0.375 ENSG00000108381 chr17:3499005-3499005;G/A missense_variant False ASPA@p.T299S 1 0.157894737 ENSG00000108381 chr17:3499041-3499041;A/T missense_variant False ASTN2@p.K943N 1 0.272727273 ENSG00000148219 chr9:116651771-116651771;C/G missense_variant False ASPSCR1@p.S287L 1 0.146666667 ENSG00000169696 chr17:81996773-81996773;C/T missense_variant False ASTE1@p.D344H 1 0.526315789 ENSG00000034533 chr3:131024277-131024277;C/G missense_variant False ASS1@p.S6F 1 0.21875 ENSG00000130707 chr9:130452245-130452245;C/T missense_variant False ASS1@p.L315F 1 0.090909091 ENSG00000130707 chr9:130489439-130489439;G/C missense_variant False ASRGL1@p.V190I 1 0.232142857 ENSG00000162174 chr11:62389209-62389209;G/A missense_variant False ASRGL1@p.H114L 1 0.348837209 ENSG00000162174 chr11:62356994-62356994;A/T missense_variant False ASRGL1@p.D298H 1 0.342592593 ENSG00000162174 chr11:62392249-62392249;G/C missense_variant False ASPSCR1@p.S221L 1 0.193548387 ENSG00000169696 chr17:81996575-81996575;C/T missense_variant False ASPM@p.S248P 1 0.294117647 ENSG00000066279 chr1:197143510-197143510;A/G missense_variant False ASPRV1@p.K204N 1 0.325842697 ENSG00000244617 chr2:69961077-69961077;T/A missense_variant False ASPRV1@p.G195D 1 0.366666667 ENSG00000244617 chr2:69961105-69961105;C/T missense_variant False ASPRV1@p.E121Q 1 0.202702703 ENSG00000244617 chr2:69961328-69961328;C/G missense_variant False ASPRV1@p.E104Q 1 0.220183486 ENSG00000244617 chr2:69961379-69961379;C/G missense_variant False ASPN@p.D108H 1 0.340909091 ENSG00000106819 chr9:92470734-92470734;C/G missense_variant False ASPM@p.T2710A 1 0.179487179 ENSG00000066279 chr1:197101123-197101123;T/C missense_variant False ASTE1@p.K129E 1 0.210526316 ENSG00000034533 chr3:131024922-131024922;T/C missense_variant False ASTE1@p.V405L 1 0.093023256 ENSG00000034533 chr3:131024094-131024094;C/A missense_variant False ASTL@p.R85Q 1 0.571428571 ENSG00000188886 chr2:96134048-96134048;C/T missense_variant False ASTN1@p.E1200Q 1 0.278688525 ENSG00000152092 chr1:176868893-176868893;C/G missense_variant False ASTN1@p.E866K 1 0.121621622 ENSG00000152092 chr1:176934227-176934227;C/T missense_variant False ASTN1@p.E899K 1 0.066666667 ENSG00000152092 chr1:176894807-176894807;C/T missense_variant False ASTN1@p.K1142N 1 0.453333333 ENSG00000152092 chr1:176876574-176876574;C/A missense_variant False ASTN1@p.L1236F 1 0.1 ENSG00000152092 chr1:176864463-176864463;G/A missense_variant False ASTN1@p.M284V 1 0.069767442 ENSG00000152092 chr1:177032471-177032471;T/C missense_variant False ASTN1@p.R517Q 1 0.123966942 ENSG00000152092 chr1:176965211-176965211;C/T missense_variant False ASTN1@p.T922I 1 0.306976744 ENSG00000152092 chr1:176894737-176894737;G/A missense_variant False ASTN2@p.D136N 1 0.12195122 ENSG00000148219 chr9:117414533-117414533;C/T missense_variant False ASTN2@p.E1245K 1 0.65625 ENSG00000148219 chr9:116440658-116440658;C/T missense_variant False ASTN2@p.E683Q 1 0.086206897 ENSG00000148219 chr9:116820777-116820777;C/G missense_variant False ASTN2@p.E887D 1 0.196428571 ENSG00000148219 chr9:116725916-116725916;C/G missense_variant False ASTN2@p.K242N 1 0.435897436 ENSG00000148219 chr9:117214647-117214647;C/A missense_variant False ASTN2@p.K581N 1 0.428571429 ENSG00000148219 chr9:116976122-116976122;C/G missense_variant False ASPM@p.S3082Ifs*42 1 0.118644068 ENSG00000066279 chr1:197093102-197093103;-/T frameshift_variant False ASPM@p.S1671Y 1 0.423076923 ENSG00000066279 chr1:197104239-197104239;G/T missense_variant False ASPG@p.A254V 1 0.307692308 ENSG00000166183 chr14:104104311-104104311;C/T missense_variant False ASPHD1@p.P187Q 1 0.266055046 ENSG00000174939 chr16:29901531-29901531;C/A missense_variant False ASPM@p.E2623D 1 0.538461538 ENSG00000066279 chr1:197101382-197101382;T/G missense_variant False ASPM@p.A1503V 1 0.104166667 ENSG00000066279 chr1:197104743-197104743;G/A missense_variant False ASPHD2@p.V273M 1 0.205479452 ENSG00000128203 chr22:26434432-26434432;G/A missense_variant False ASPHD2@p.P174L 1 0.133333333 ENSG00000128203 chr22:26434136-26434136;C/T missense_variant False ASPHD2@p.E357K 1 0.171084337 ENSG00000128203 chr22:26443165-26443165;G/A missense_variant False ASPHD1@p.R362Q 1 0.115384615 ENSG00000174939 chr16:29905809-29905809;G/A missense_variant False ASPHD1@p.F287L 1 0.392156863 ENSG00000174939 chr16:29901832-29901832;C/G missense_variant False ASPM@p.S162C 1 0.093333333 ENSG00000066279 chr1:197143767-197143767;G/C missense_variant False ASPHD1@p.E302Q 1 0.407407407 ENSG00000174939 chr16:29901875-29901875;G/C missense_variant False ASPH@p.E144K 1 0.428571429 ENSG00000198363 chr8:61651110-61651110;C/T missense_variant False ASPH@p.D101N 1 0.177664975 ENSG00000198363 chr8:61680989-61680989;C/T missense_variant False ASPG@p.S364L 1 0.352941176 ENSG00000166183 chr14:104105368-104105368;C/T missense_variant False ASPG@p.Q373K 1 0.238095238 ENSG00000166183 chr14:104105394-104105394;C/A missense_variant False ASPG@p.F255L 1 0.264705882 ENSG00000166183 chr14:104104315-104104315;C/G missense_variant False ASPM@p.E3330D 1 0.464285714 ENSG00000066279 chr1:197088427-197088427;C/A missense_variant False ASPM@p.E385Q 1 0.162162162 ENSG00000066279 chr1:197143099-197143099;C/G missense_variant False ASPM@p.E529Q 1 0.240601504 ENSG00000066279 chr1:197142667-197142667;C/G missense_variant False ASPM@p.E76Q 1 0.16751269 ENSG00000066279 chr1:197146212-197146212;C/G missense_variant False ASPM@p.F2345L 1 0.130434783 ENSG00000066279 chr1:197102216-197102216;G/C missense_variant False ASPM@p.F2879C 1 0.428571429 ENSG00000066279 chr1:197100615-197100615;A/C missense_variant False ASPM@p.G58E 1 0.755656109 ENSG00000066279 chr1:197146265-197146265;C/T missense_variant False ASPM@p.I1992M 1 0.263636364 ENSG00000066279 chr1:197103275-197103275;G/C missense_variant False ASPM@p.P191S 1 0.830357143 ENSG00000066279 chr1:197143681-197143681;G/A missense_variant False ASPM@p.Q1751R 1 0.299270073 ENSG00000066279 chr1:197103999-197103999;T/C missense_variant False ASPM@p.Q1794E 1 0.064102564 ENSG00000066279 chr1:197103871-197103871;G/C missense_variant False ASPM@p.Q1929P 1 0.175824176 ENSG00000066279 chr1:197103465-197103465;T/G missense_variant False ASPM@p.Q2131P 1 0.073863636 ENSG00000066279 chr1:197102859-197102859;T/G missense_variant False ASPM@p.Q2488E 1 0.220183486 ENSG00000066279 chr1:197101789-197101789;G/C missense_variant False ASPM@p.Q2686E 1 0.231884058 ENSG00000066279 chr1:197101195-197101195;G/C missense_variant False ASPM@p.R1617L 1 0.252631579 ENSG00000066279 chr1:197104401-197104401;C/A missense_variant False ASPM@p.R3281K 1 0.28125 ENSG00000066279 chr1:197090072-197090072;C/T missense_variant False ATF6B@p.V254I 1 0.179487179 ENSG00000213676 chr6:32120843-32120843;C/T missense_variant False ATF7@p.K59N 1 0.384615385 ENSG00000170653 chr12:53543417-53543417;C/A missense_variant False ASH1L@p.D2197N 1 0.189655172 ENSG00000116539 chr1:155370616-155370616;C/T missense_variant False ATP10A@p.R754W 1 0.316326531 ENSG00000206190 chr15:25713758-25713758;G/A missense_variant False ATP10B@p.R1438T 1 0.292682927 ENSG00000118322 chr5:160565526-160565526;C/G missense_variant False ATP10B@p.L1003F 1 0.127272727 ENSG00000118322 chr5:160606916-160606916;C/G missense_variant False ATP10B@p.A994P 1 0.263565891 ENSG00000118322 chr5:160606945-160606945;C/G missense_variant False ATP10A@p.Y670F 1 0.298245614 ENSG00000206190 chr15:25714009-25714009;T/A missense_variant False ATP10A@p.T226M 1 0.337662338 ENSG00000206190 chr15:25736119-25736119;G/A missense_variant False ATP10A@p.R809L 1 0.202898551 ENSG00000206190 chr15:25708219-25708219;C/A missense_variant False ATP10A@p.R1005L 1 0.309859155 ENSG00000206190 chr15:25694893-25694893;C/A missense_variant False ATP10B@p.S611G 1 0.089171975 ENSG00000118322 chr5:160620932-160620932;T/C missense_variant False ATP10A@p.P345L 1 0.385185185 ENSG00000206190 chr15:25723967-25723967;G/A missense_variant False ATP10A@p.P236S 1 0.363636364 ENSG00000206190 chr15:25736090-25736090;G/A missense_variant False ATP10A@p.P1321T 1 0.154929577 ENSG00000206190 chr15:25679880-25679880;G/T missense_variant False ATP10A@p.G349E 1 0.296703297 ENSG00000206190 chr15:25723955-25723955;C/T missense_variant False ATP10A@p.G214C 1 0.16 ENSG00000206190 chr15:25781033-25781033;C/A missense_variant False ATP10A@p.G1335E 1 0.25 ENSG00000206190 chr15:25679837-25679837;C/T missense_variant False ATP10B@p.S1396L 1 0.511363636 ENSG00000118322 chr5:160565652-160565652;G/A missense_variant False ATP10D@p.A494Efs*31 1 0.341463415 ENSG00000145246 chr4:47546708-47546708;C/- frameshift_variant False ATF7@p.R345Q 1 0.258064516 ENSG00000170653 chr12:53524688-53524688;C/T missense_variant False ATP10D@p.S905F 1 0.223880597 ENSG00000145246 chr4:47563626-47563626;C/T missense_variant False ATP11A@p.Y951C 1 0.512605042 ENSG00000068650 chr13:112860411-112860411;A/G missense_variant False ATP11A@p.T733M 1 0.40625 ENSG00000068650 chr13:112854485-112854485;C/T missense_variant False ATP11A@p.I535M 1 0.425925926 ENSG00000068650 chr13:112834634-112834634;A/G missense_variant False ATP11A@p.E38Q 1 0.123595506 ENSG00000068650 chr13:112785207-112785207;G/C missense_variant False ATP11A@p.A800V 1 0.203125 ENSG00000068650 chr13:112856066-112856066;C/T missense_variant False ATP10D@p.Y410C 1 0.483870968 ENSG00000145246 chr4:47536771-47536771;A/G missense_variant False ATP10D@p.S477F 1 0.428571429 ENSG00000145246 chr4:47546657-47546657;C/T missense_variant False ATP10D@p.D1224N 1 0.261744966 ENSG00000145246 chr4:47581981-47581981;G/A missense_variant False ATP10D@p.S1021Y 1 0.388888889 ENSG00000145246 chr4:47569045-47569045;C/A missense_variant False ATP10D@p.N354Qfs*6 1 0.494897959 ENSG00000145246 chr4:47536473-47536474;-/T frameshift_variant False ATP10D@p.L1178V 1 0.190789474 ENSG00000145246 chr4:47576938-47576938;C/G missense_variant False ATP10D@p.E208K 1 0.193548387 ENSG00000145246 chr4:47523148-47523148;G/A missense_variant False ATP10D@p.D922E 1 0.235294118 ENSG00000145246 chr4:47563678-47563678;C/A missense_variant False ATP10D@p.D851N 1 0.254237288 ENSG00000145246 chr4:47560958-47560958;G/A missense_variant False ATP10A@p.E841K 1 0.136363636 ENSG00000206190 chr15:25708030-25708030;C/T missense_variant False ATP10A@p.E564K 1 0.341463415 ENSG00000206190 chr15:25716816-25716816;C/T missense_variant False ATP10A@p.E38K 1 0.5 ENSG00000206190 chr15:25862985-25862985;C/T missense_variant False ATMIN@p.Q475H 1 0.102040816 ENSG00000166454 chr16:81043923-81043923;G/C missense_variant False ATN1@p.F206L 1 0.413793103 ENSG00000111676 chr12:6935885-6935885;C/G missense_variant False ATN1@p.E956K 1 0.263513514 ENSG00000111676 chr12:6938829-6938829;G/A missense_variant False ATN1@p.E951Q 1 0.333333333 ENSG00000111676 chr12:6938814-6938814;G/C missense_variant False ATN1@p.D1014H 1 0.15625 ENSG00000111676 chr12:6939003-6939003;G/C missense_variant False ATMIN@p.R289T 1 0.304964539 ENSG00000166454 chr16:81043364-81043364;G/C missense_variant False ATMIN@p.Q759E 1 0.351351351 ENSG00000166454 chr16:81044773-81044773;C/G missense_variant False ATMIN@p.L284V 1 0.345794393 ENSG00000166454 chr16:81043348-81043348;C/G missense_variant False ATP10A@p.D1043H 1 0.317365269 ENSG00000206190 chr15:25691753-25691753;C/G missense_variant False ATMIN@p.H208D 1 0.947368421 ENSG00000166454 chr16:81042440-81042440;C/G missense_variant False ATMIN@p.G690E 1 0.29969419 ENSG00000166454 chr16:81044567-81044567;G/A missense_variant False ATMIN@p.E652K 1 0.252525253 ENSG00000166454 chr16:81044452-81044452;G/A missense_variant False ATMIN@p.D734Y 1 0.143939394 ENSG00000166454 chr16:81044698-81044698;G/T missense_variant False ATMIN@p.D707H 1 0.1953125 ENSG00000166454 chr16:81044617-81044617;G/C missense_variant False ATMIN@p.D621H 1 0.083333333 ENSG00000166454 chr16:81044359-81044359;G/C missense_variant False ATN1@p.F784L 1 0.363636364 ENSG00000111676 chr12:6937902-6937902;C/A missense_variant False ATN1@p.G656A 1 0.382352941 ENSG00000111676 chr12:6937234-6937234;G/C missense_variant False ATN1@p.H526R 1 0.333333333 ENSG00000111676 chr12:6936844-6936844;A/G missense_variant False ATN1@p.P162A 1 0.4625 ENSG00000111676 chr12:6935751-6935751;C/G missense_variant False ATN1@p.Q1139E 1 0.11971831 ENSG00000111676 chr12:6941430-6941430;C/G missense_variant False ATN1@p.S103C 1 0.234042553 ENSG00000111676 chr12:6935575-6935575;C/G missense_variant False ATN1@p.S149F 1 0.333333333 ENSG00000111676 chr12:6935713-6935713;C/T missense_variant False ATN1@p.S229C 1 0.363636364 ENSG00000111676 chr12:6935953-6935953;C/G missense_variant False ATN1@p.S393C 1 0.285714286 ENSG00000111676 chr12:6936445-6936445;C/G missense_variant False ATN1@p.S395C 1 0.142857143 ENSG00000111676 chr12:6936451-6936451;C/G missense_variant False ATN1@p.S571F 1 0.135416667 ENSG00000111676 chr12:6936979-6936979;C/T missense_variant False ATN1@p.Y649C 1 0.2 ENSG00000111676 chr12:6937213-6937213;A/G missense_variant False ATOH1@p.S58I 1 0.352941176 ENSG00000172238 chr4:93829099-93829099;G/T missense_variant False ATOH1@p.V136L 1 0.285714286 ENSG00000172238 chr4:93829332-93829332;G/T missense_variant False ATOH7@p.E49K 1 0.25 ENSG00000179774 chr10:68231533-68231533;C/T missense_variant False ATOH8@p.R231L 1 0.0625 ENSG00000168874 chr2:85754881-85754881;G/T missense_variant False ATP10A@p.A1326S 1 0.509615385 ENSG00000206190 chr15:25679865-25679865;C/A missense_variant False ATP11B@p.D755Y 1 0.279069767 ENSG00000058063 chr3:182879506-182879506;G/T missense_variant False ATP11B@p.E283Q 1 0.264150943 ENSG00000058063 chr3:182848553-182848553;G/C missense_variant False ATP11B@p.E300K 1 0.314814815 ENSG00000058063 chr3:182857924-182857924;G/A missense_variant False ATP13A3@p.S273L 1 0.444444444 ENSG00000133657 chr3:194453726-194453726;G/A missense_variant False ATP13A4@p.L703V 1 0.186813187 ENSG00000127249 chr3:193448251-193448251;A/C missense_variant False ATP13A4@p.I1014M 1 0.220779221 ENSG00000127249 chr3:193412344-193412344;G/C missense_variant False ATP13A4@p.F562Y 1 0.439716312 ENSG00000127249 chr3:193457455-193457455;A/T missense_variant False ATP13A4@p.F373L 1 0.478672986 ENSG00000127249 chr3:193466178-193466178;G/T missense_variant False ATP13A4@p.E763K 1 0.30952381 ENSG00000127249 chr3:193442422-193442422;C/T missense_variant False ATP13A3@p.T589A 1 0.181818182 ENSG00000133657 chr3:194438918-194438918;T/C missense_variant False ATP13A3@p.M635T 1 0.371134021 ENSG00000133657 chr3:194437406-194437406;A/G missense_variant False ATP13A2@p.R783L 1 0.542857143 ENSG00000159363 chr1:16990191-16990191;C/A missense_variant False ATP13A3@p.I1068M 1 0.133333333 ENSG00000133657 chr3:194425451-194425451;T/C missense_variant False ATP13A3@p.G1094V 1 0.163265306 ENSG00000133657 chr3:194425374-194425374;C/A missense_variant False ATP13A3@p.F1008L 1 0.23943662 ENSG00000133657 chr3:194427176-194427176;G/C missense_variant False ATP13A3@p.E526K 1 0.450980392 ENSG00000133657 chr3:194441445-194441445;C/T missense_variant False ATP13A3@p.E116D 1 0.097087379 ENSG00000133657 chr3:194459849-194459849;C/G missense_variant False ATP13A3@p.D157N 1 0.25 ENSG00000133657 chr3:194459481-194459481;C/T missense_variant False ATP13A4@p.P1024S 1 0.123076923 ENSG00000127249 chr3:193412316-193412316;G/A missense_variant False ATP13A4@p.S517L 1 0.140625 ENSG00000127249 chr3:193459205-193459205;G/A missense_variant False ATP13A5@p.D562Y 1 0.512195122 ENSG00000187527 chr3:193322565-193322565;C/A missense_variant False ATP13A5@p.E764D 1 0.14516129 ENSG00000187527 chr3:193314060-193314060;C/G missense_variant False ATP13A5@p.H954D 1 0.08974359 ENSG00000187527 chr3:193290048-193290048;G/C missense_variant False ATP13A5@p.P738S 1 0.333333333 ENSG00000187527 chr3:193314140-193314140;G/A missense_variant False ATP13A5@p.T1111I 1 0.20754717 ENSG00000187527 chr3:193276814-193276814;G/A missense_variant False ATP1A1@p.A475T 1 0.111111111 ENSG00000163399 chr1:116392944-116392944;G/A missense_variant False ATP1A1@p.E319Q 1 0.431034483 ENSG00000163399 chr1:116389639-116389639;G/C missense_variant False ATP1A1@p.G604D 1 0.43877551 ENSG00000163399 chr1:116395260-116395260;G/A missense_variant False ATP1A1@p.H52N 1 0.384 ENSG00000163399 chr1:116384813-116384813;C/A missense_variant False ATP1A1@p.L844R 1 0.483870968 ENSG00000163399 chr1:116399502-116399502;T/G missense_variant False ATP1A1@p.M591I 1 0.445205479 ENSG00000163399 chr1:116395222-116395222;G/C missense_variant False ATP1A1@p.N235T 1 0.126126126 ENSG00000163399 chr1:116388969-116388969;A/C missense_variant False ATP1A1@p.R1011Q 1 0.12195122 ENSG00000163399 chr1:116403964-116403964;G/A missense_variant False ATP1A1@p.S310C 1 0.227848101 ENSG00000163399 chr1:116389613-116389613;C/G missense_variant False ATP1A2@p.A297T 1 0.20212766 ENSG00000018625 chr1:160127692-160127692;G/A missense_variant False ATP13A2@p.S894L 1 0.25 ENSG00000159363 chr1:16988403-16988403;G/A missense_variant False ATP13A2@p.Q598E 1 0.094488189 ENSG00000159363 chr1:16992539-16992539;G/C missense_variant False ATP11B@p.E381K 1 0.435897436 ENSG00000058063 chr3:182859300-182859300;G/A missense_variant False ATP12A@p.K392E 1 0.14 ENSG00000075673 chr13:24692534-24692534;A/G missense_variant False ATP12A@p.Q721K 1 0.396551724 ENSG00000075673 chr13:24706455-24706455;C/A missense_variant False ATP12A@p.P738S 1 0.302325581 ENSG00000075673 chr13:24707065-24707065;C/T missense_variant False ATP12A@p.P594L 1 0.683168317 ENSG00000075673 chr13:24700822-24700822;C/T missense_variant False ATP12A@p.N346K 1 0.319148936 ENSG00000075673 chr13:24691220-24691220;T/A missense_variant False ATP12A@p.L740V 1 0.310344828 ENSG00000075673 chr13:24707071-24707071;C/G missense_variant False ATP12A@p.L233V 1 0.13125 ENSG00000075673 chr13:24690619-24690619;C/G missense_variant False ATP12A@p.E447K 1 0.12037037 ENSG00000075673 chr13:24692858-24692858;G/A missense_variant False ATP13A2@p.K150N 1 0.119565217 ENSG00000159363 chr1:17004719-17004719;C/G missense_variant False ATP11C@p.M643I 1 0.6 ENSG00000101974 chrX:139782579-139782579;C/T missense_variant False ATP11C@p.E65Q 1 0.333333333 ENSG00000101974 chrX:139819391-139819391;C/G missense_variant False ATP11B@p.S1132Cfs*13 1 0.165322581 ENSG00000058063 chr3:182913936-182913937;TC/- frameshift_variant False ATP11B@p.R1139Q 1 0.274509804 ENSG00000058063 chr3:182913958-182913958;G/A missense_variant False ATP11B@p.E61K 1 0.420560748 ENSG00000058063 chr3:182828156-182828156;G/A missense_variant False ATP11B@p.E402K 1 0.211538462 ENSG00000058063 chr3:182865459-182865459;G/A missense_variant False ATP12A@p.R852C 1 0.168831169 ENSG00000075673 chr13:24709424-24709424;C/T missense_variant False ATP12A@p.R902W 1 0.292929293 ENSG00000075673 chr13:24709769-24709769;C/T missense_variant False ATP12A@p.S467L 1 0.352112676 ENSG00000075673 chr13:24694466-24694466;C/T missense_variant False ATP12A@p.V482Dfs*4 1 0.095238095 ENSG00000075673 chr13:24694509-24694510;TG/- frameshift_variant False ATP13A1@p.D533H 1 0.111111111 ENSG00000105726 chr19:19655177-19655177;C/G missense_variant False ATP13A1@p.E316Q 1 0.25 ENSG00000105726 chr19:19656877-19656877;C/G missense_variant False ATP13A1@p.R1079L 1 0.620689655 ENSG00000105726 chr19:19646217-19646217;C/A missense_variant False ATP13A1@p.S923F 1 0.155555556 ENSG00000105726 chr19:19647624-19647624;G/A missense_variant False ATP13A1@p.T535M 1 0.081081081 ENSG00000105726 chr19:19655170-19655170;G/A missense_variant False ATP13A2@p.A682V 1 0.103448276 ENSG00000159363 chr1:16992090-16992090;G/A missense_variant False ATP13A2@p.C664Y 1 0.714285714 ENSG00000159363 chr1:16992257-16992257;C/T missense_variant False ATP13A2@p.D592N 1 0.383838384 ENSG00000159363 chr1:16992557-16992557;C/T missense_variant False ATP13A2@p.D807H 1 0.307692308 ENSG00000159363 chr1:16989997-16989997;C/G missense_variant False ATP13A2@p.E1046D 1 0.222222222 ENSG00000159363 chr1:16986902-16986902;C/G missense_variant False ATP13A2@p.E367K 1 0.653386454 ENSG00000159363 chr1:16997116-16997116;C/T missense_variant False ATP13A2@p.G191S 1 0.277777778 ENSG00000159363 chr1:17002360-17002360;C/T missense_variant False ATP13A2@p.G877A 1 0.177083333 ENSG00000159363 chr1:16988454-16988454;C/G missense_variant False ATMIN@p.A679G 1 0.182795699 ENSG00000166454 chr16:81044534-81044534;C/G missense_variant False ATM@p.W1026Lfs*22 1 0.118081181 ENSG00000149311 chr11:108271401-108271402;-/T frameshift_variant True ATM@p.T2359N 1 0.255319149 ENSG00000149311 chr11:108327745-108327745;C/A missense_variant True ATG2B@p.C14Afs*17 1 0.131868132 ENSG00000066739 chr14:96362938-96362938;G/- frameshift_variant False ATG2B@p.F979L 1 0.272727273 ENSG00000066739 chr14:96317798-96317798;G/C missense_variant False ATG2B@p.E977K 1 0.152777778 ENSG00000066739 chr14:96317806-96317806;C/T missense_variant False ATG2B@p.E392K 1 0.269230769 ENSG00000066739 chr14:96333721-96333721;C/T missense_variant False ATG2B@p.E2013K 1 0.285714286 ENSG00000066739 chr14:96285955-96285955;C/T missense_variant False ATG2B@p.D1411N 1 0.328125 ENSG00000066739 chr14:96309525-96309525;C/T missense_variant False ATG2B@p.D1325H 1 0.311320755 ENSG00000066739 chr14:96311559-96311559;C/G missense_variant False ATG2A@p.S1820Y 1 0.421052632 ENSG00000110046 chr11:64895411-64895411;G/T missense_variant False ATG2A@p.E1361K 1 0.114942529 ENSG00000110046 chr11:64902000-64902000;C/T missense_variant False ATG2A@p.S1459C 1 0.171875 ENSG00000110046 chr11:64900582-64900582;G/C missense_variant False ATG2A@p.L1153M 1 0.75 ENSG00000110046 chr11:64905570-64905570;G/T missense_variant False ATG2A@p.K168E 1 0.315789474 ENSG00000110046 chr11:64913909-64913909;T/C missense_variant False ATG2A@p.I1278M 1 0.125 ENSG00000110046 chr11:64902330-64902330;G/C missense_variant False ATG2A@p.G1335V 1 0.338235294 ENSG00000110046 chr11:64902077-64902077;C/A missense_variant False ATG2A@p.G1335C 1 0.362318841 ENSG00000110046 chr11:64902078-64902078;C/A missense_variant False ATG2B@p.G1561A 1 0.117647059 ENSG00000066739 chr14:96305640-96305640;C/G missense_variant False ATG2B@p.K1040Nfs*2 1 0.166666667 ENSG00000066739 chr14:96317235-96317235;T/- frameshift_variant False ATG2B@p.K1323R 1 0.633333333 ENSG00000066739 chr14:96311564-96311564;T/C missense_variant False ATG2B@p.L1359F 1 0.124260355 ENSG00000066739 chr14:96311203-96311203;G/A missense_variant False ATG2B@p.R762Q 1 0.247058824 ENSG00000066739 chr14:96325801-96325801;C/T missense_variant False ATG2B@p.S501L 1 0.617647059 ENSG00000066739 chr14:96331604-96331604;G/A missense_variant False ATG2B@p.S753C 1 0.088235294 ENSG00000066739 chr14:96325828-96325828;G/C missense_variant False ATG2B@p.T1571I 1 0.142857143 ENSG00000066739 chr14:96305610-96305610;G/A missense_variant False ATG2B@p.V1596A 1 0.723214286 ENSG00000066739 chr14:96304550-96304550;A/G missense_variant False ATG3@p.D239H 1 0.371134021 ENSG00000144848 chr3:112536554-112536554;C/G missense_variant False ATG4B@p.D159N 1 0.113207547 ENSG00000168397 chr2:241659124-241659124;G/A missense_variant False ATG4C@p.A19S 1 0.238636364 ENSG00000125703 chr1:62803841-62803841;G/T missense_variant False ATG4C@p.D273H 1 0.116883117 ENSG00000125703 chr1:62829060-62829060;G/C missense_variant False ATG4C@p.D82Y 1 0.537037037 ENSG00000125703 chr1:62816658-62816658;G/T missense_variant False ATG4C@p.E400K 1 0.268292683 ENSG00000125703 chr1:62841536-62841536;G/A missense_variant False ATG4C@p.H239D 1 0.305263158 ENSG00000125703 chr1:62819325-62819325;C/G missense_variant False ATG4C@p.R389Q 1 0.378640777 ENSG00000125703 chr1:62841504-62841504;G/A missense_variant False ATG2A@p.E1672K 1 0.196969697 ENSG00000110046 chr11:64897724-64897724;C/T missense_variant False ATG2A@p.E1345K 1 0.525641026 ENSG00000110046 chr11:64902048-64902048;C/T missense_variant False ATG4D@p.E170K 1 0.227272727 ENSG00000130734 chr19:10546853-10546853;G/A missense_variant False ATF7IP@p.D238N 1 0.299435028 ENSG00000171681 chr12:14424627-14424627;G/A missense_variant False ATF7IP@p.S1266C 1 0.217213115 ENSG00000171681 chr12:14498057-14498057;C/G missense_variant False ATF7IP@p.S1265F 1 0.064516129 ENSG00000171681 chr12:14498054-14498054;C/T missense_variant False ATF7IP@p.P159T 1 0.161290323 ENSG00000171681 chr12:14424390-14424390;C/A missense_variant False ATF7IP@p.E578K 1 0.390804598 ENSG00000171681 chr12:14436192-14436192;G/A missense_variant False ATF7IP@p.D433H 1 0.225352113 ENSG00000171681 chr12:14425212-14425212;G/C missense_variant False ATF7IP@p.D355H 1 0.262295082 ENSG00000171681 chr12:14424978-14424978;G/C missense_variant False ATF7IP2@p.R651K 1 0.126984127 ENSG00000166669 chr16:10482152-10482152;G/A missense_variant False ATG16L2@p.S349R 1 0.341772152 ENSG00000168010 chr11:72825352-72825352;C/A missense_variant False ATF7IP2@p.I661V 1 0.474226804 ENSG00000166669 chr16:10482181-10482181;A/G missense_variant False ATF7IP2@p.E509Q 1 0.220588235 ENSG00000166669 chr16:10473965-10473965;G/C missense_variant False ATF7IP2@p.E124K 1 0.102040816 ENSG00000166669 chr16:10430990-10430990;G/A missense_variant False ATF7IP2@p.D252H 1 0.194444444 ENSG00000166669 chr16:10431374-10431374;G/C missense_variant False ATF7IP2@p.D136E 1 0.211538462 ENSG00000166669 chr16:10431028-10431028;T/G missense_variant False ATF7@p.S491F 1 0.364583333 ENSG00000170653 chr12:53517150-53517150;G/A missense_variant False ATF7IP@p.S191C 1 0.147058824 ENSG00000171681 chr12:14424487-14424487;C/G missense_variant False ATF7IP@p.S261C 1 0.674242424 ENSG00000171681 chr12:14424697-14424697;C/G missense_variant False ATF7IP@p.S266F 1 0.246153846 ENSG00000171681 chr12:14424712-14424712;C/T missense_variant False ATF7IP@p.S920C 1 0.048780488 ENSG00000171681 chr12:14461095-14461095;C/G missense_variant False ATG101@p.E13Q 1 0.176923077 ENSG00000123395 chr12:52073687-52073687;G/C missense_variant False ATG101@p.E42Q 1 0.216666667 ENSG00000123395 chr12:52073774-52073774;G/C missense_variant False ATG13@p.E202Q 1 0.252873563 ENSG00000175224 chr11:46657531-46657531;G/C missense_variant False ATG13@p.E490Q 1 0.15625 ENSG00000175224 chr11:46669524-46669524;G/C missense_variant False ATG13@p.V159F 1 0.5 ENSG00000175224 chr11:46656249-46656249;G/T missense_variant False ATG14@p.Q159H 1 0.101265823 ENSG00000126775 chr14:55386029-55386029;T/G missense_variant False ATG14@p.Q60H 1 0.314285714 ENSG00000126775 chr14:55411643-55411643;C/G missense_variant False ATG14@p.R442Q 1 0.258064516 ENSG00000126775 chr14:55369773-55369773;C/T missense_variant False ATG16L1@p.D397N 1 0.1 ENSG00000085978 chr2:233282739-233282739;G/A missense_variant False ATG16L1@p.D509N 1 0.142857143 ENSG00000085978 chr2:233292222-233292222;G/A missense_variant False ATG16L1@p.P231S 1 0.116883117 ENSG00000085978 chr2:233270051-233270051;C/T missense_variant False ATG16L1@p.R204W 1 0.882978723 ENSG00000085978 chr2:233265112-233265112;C/T missense_variant False ATG16L2@p.K408N 1 0.557142857 ENSG00000168010 chr11:72826568-72826568;G/T missense_variant False ATG4D@p.D441Y 1 0.287671233 ENSG00000130734 chr19:10552963-10552963;G/T missense_variant False ATG4D@p.E178K 1 0.24 ENSG00000130734 chr19:10546877-10546877;G/A missense_variant False ATM@p.S83A 1 0.098360656 ENSG00000149311 chr11:108229239-108229239;T/G missense_variant True ATM@p.E2884Q 1 0.289473684 ENSG00000149311 chr11:108347344-108347344;G/C missense_variant True ATM@p.H2038N 1 0.833333333 ENSG00000149311 chr11:108316027-108316027;C/A missense_variant True ATM@p.H1213N 1 0.416666667 ENSG00000149311 chr11:108282770-108282770;C/A missense_variant True ATM@p.G844R 1 0.416666667 ENSG00000149311 chr11:108267234-108267234;G/C missense_variant True ATM@p.G558V 1 0.156521739 ENSG00000149311 chr11:108251902-108251902;G/T missense_variant True ATM@p.G1456D 1 0.19047619 ENSG00000149311 chr11:108289732-108289732;G/A missense_variant True ATM@p.F523V 1 0.50617284 ENSG00000149311 chr11:108251032-108251032;T/G missense_variant True ATM@p.E2164G 1 0.112359551 ENSG00000149311 chr11:108321339-108321339;A/G missense_variant True ATM@p.D2372N 1 0.233333333 ENSG00000149311 chr11:108329045-108329045;G/A missense_variant True ATM@p.E2094K 1 0.203208556 ENSG00000149311 chr11:108317454-108317454;G/A missense_variant True ATM@p.E2039K 1 0.2 ENSG00000149311 chr11:108316030-108316030;G/A missense_variant True ATM@p.E158Q 1 0.75 ENSG00000149311 chr11:108235810-108235810;G/C missense_variant True ATM@p.D863N 1 0.32 ENSG00000149311 chr11:108267291-108267291;G/A missense_variant True ATM@p.D398H 1 0.107692308 ENSG00000149311 chr11:108249059-108249059;G/C missense_variant True ATM@p.D317G 1 0.389473684 ENSG00000149311 chr11:108247012-108247012;A/G missense_variant True ATM@p.I2888L 1 0.385620915 ENSG00000149311 chr11:108347356-108347356;A/T missense_variant True ATM@p.I323V 1 0.125 ENSG00000149311 chr11:108247029-108247029;A/G missense_variant True ATM@p.L1347V 1 0.454545455 ENSG00000149311 chr11:108287645-108287645;T/G missense_variant True ATM@p.L1764I 1 0.594936709 ENSG00000149311 chr11:108301760-108301760;C/A missense_variant True ATM@p.L2005I 1 0.409090909 ENSG00000149311 chr11:108315829-108315829;C/A missense_variant True ATM@p.L762V 1 0.297297297 ENSG00000149311 chr11:108257514-108257514;C/G missense_variant True ATM@p.Q2314_K2317del 1 0.2 ENSG00000149311 chr11:108326185-108326196;TCAAGCAAATGA/- inframe_deletion True ATM@p.Q284P 1 0.534883721 ENSG00000149311 chr11:108244976-108244976;A/C missense_variant True ATM@p.Q2972H 1 0.432098765 ENSG00000149311 chr11:108365147-108365147;G/C missense_variant True ATM@p.R2461P 1 0.183333333 ENSG00000149311 chr11:108330288-108330288;G/C missense_variant True ATM@p.R2568G 1 0.577319588 ENSG00000149311 chr11:108331951-108331951;A/G missense_variant True ATM@p.R2973T 1 0.328571429 ENSG00000149311 chr11:108365149-108365149;G/C missense_variant True ATM@p.R329T 1 0.43902439 ENSG00000149311 chr11:108247048-108247048;G/C missense_variant True ATM@p.R982C 1 0.470588235 ENSG00000149311 chr11:108271273-108271273;C/T missense_variant True ATM@p.S1947P 1 0.278688525 ENSG00000149311 chr11:108310236-108310236;T/C missense_variant True ATM@p.S207C 1 0.364864865 ENSG00000149311 chr11:108244076-108244076;C/G missense_variant True ATM@p.S2860del 1 0.222857143 ENSG00000149311 chr11:108345897-108345899;CTT/- inframe_deletion True ATM@p.D2889H 1 0.430769231 ENSG00000149311 chr11:108347359-108347359;G/C missense_variant True ATM@p.D1705N 1 0.189189189 ENSG00000149311 chr11:108299821-108299821;G/A missense_variant True ATG4D@p.E205K 1 0.37037037 ENSG00000130734 chr19:10546958-10546958;G/A missense_variant False ATG5@p.S225F 1 0.483050847 ENSG00000057663 chr6:106201989-106201989;G/A missense_variant False ATG9A@p.L63I 1 0.166666667 ENSG00000198925 chr2:219226894-219226894;G/T missense_variant False ATG9A@p.I148T 1 0.917808219 ENSG00000198925 chr2:219225144-219225144;A/G missense_variant False ATG7@p.V668Gfs*9 1 0.230769231 ENSG00000197548 chr3:11426850-11426850;T/- frameshift_variant False ATG7@p.R277K 1 0.433962264 ENSG00000197548 chr3:11333034-11333034;G/A missense_variant False ATG7@p.P44S 1 0.208333333 ENSG00000197548 chr3:11298825-11298825;C/T missense_variant False ATG7@p.K140N 1 0.188235294 ENSG00000197548 chr3:11313312-11313312;G/C missense_variant False ATG5@p.R41K 1 0.684210526 ENSG00000057663 chr6:106308478-106308478;C/T missense_variant False ATM@p.D140H 1 0.485714286 ENSG00000149311 chr11:108235756-108235756;G/C missense_variant True ATG5@p.G156R 1 0.042253521 ENSG00000057663 chr6:106279673-106279673;C/T missense_variant False ATG4D@p.R453W 1 0.103092784 ENSG00000130734 chr19:10552999-10552999;C/T missense_variant False ATG4D@p.L287V 1 0.219512195 ENSG00000130734 chr19:10548927-10548927;C/G missense_variant False ATG4D@p.L287Q 1 0.2 ENSG00000130734 chr19:10548928-10548928;T/A missense_variant False ATG4D@p.E432K 1 0.492890995 ENSG00000130734 chr19:10552936-10552936;G/A missense_variant False ATG4D@p.E261D 1 0.176470588 ENSG00000130734 chr19:10547201-10547201;G/C missense_variant False ATG9A@p.L63R 1 0.169491525 ENSG00000198925 chr2:219226893-219226893;A/C missense_variant False ATG9A@p.S799C 1 0.209302326 ENSG00000198925 chr2:219220865-219220865;G/C missense_variant False ATG9B@p.P779S 1 0.260869565 ENSG00000181652 chr7:151016776-151016776;G/A missense_variant False ATG9B@p.R780K 1 0.142857143 ENSG00000181652 chr7:151016772-151016772;C/T missense_variant False ATG9B@p.S326W 1 0.161290323 ENSG00000181652 chr7:151019361-151019361;G/C missense_variant False ATIC@p.E348K 1 0.411764706 ENSG00000138363 chr2:215336068-215336068;G/A missense_variant False ATIC@p.P270A 1 0.15625 ENSG00000138363 chr2:215332501-215332501;C/G missense_variant False ATL1@p.I289T 1 0.294117647 ENSG00000198513 chr14:50620602-50620602;T/C missense_variant False ATL1@p.Q540E 1 0.235294118 ENSG00000198513 chr14:50632280-50632280;C/G missense_variant False ATL1@p.S226P 1 0.378640777 ENSG00000198513 chr14:50613304-50613304;T/C missense_variant False ATL2@p.E211Q 1 0.233333333 ENSG00000119787 chr2:38315307-38315307;C/G missense_variant False ATL2@p.E53Q 1 0.113924051 ENSG00000119787 chr2:38343474-38343474;C/G missense_variant False ATL2@p.R350T 1 0.170731707 ENSG00000119787 chr2:38309401-38309401;C/G missense_variant False ATL2@p.S34L 1 0.161290323 ENSG00000119787 chr2:38377160-38377160;G/A missense_variant False ATL3@p.E349K 1 0.315068493 ENSG00000184743 chr11:63633088-63633088;C/T missense_variant False ATL3@p.R412G 1 0.398058252 ENSG00000184743 chr11:63631345-63631345;G/C missense_variant False ATM@p.D1208N 1 0.234375 ENSG00000149311 chr11:108282755-108282755;G/A missense_variant True ASH1L@p.D2403N 1 0.229508197 ENSG00000116539 chr1:155354494-155354494;C/T missense_variant False ASH1L@p.D2070N 1 0.097087379 ENSG00000116539 chr1:155378533-155378533;C/T missense_variant False BLID@p.S104C 1 0.333333333 ENSG00000259571 chr11:122115612-122115612;G/C missense_variant False ARID4A@p.E845K 1 0.13559322 ENSG00000032219 chr14:58364622-58364622;G/A missense_variant False ARID4A@p.N899Y 1 0.216216216 ENSG00000032219 chr14:58364784-58364784;A/T missense_variant False ARID4A@p.L967F 1 0.260416667 ENSG00000032219 chr14:58364990-58364990;G/C missense_variant False ARID4A@p.K1102N 1 0.470588235 ENSG00000032219 chr14:58365612-58365612;G/C missense_variant False ARID4A@p.G813C 1 0.272727273 ENSG00000032219 chr14:58364526-58364526;G/T missense_variant False ARID4A@p.E936K 1 0.41025641 ENSG00000032219 chr14:58364895-58364895;G/A missense_variant False ARID4A@p.E901Q 1 0.25 ENSG00000032219 chr14:58364790-58364790;G/C missense_variant False ARID4A@p.E564K 1 0.413793103 ENSG00000032219 chr14:58353692-58353692;G/A missense_variant False ARID4A@p.S811L 1 0.241935484 ENSG00000032219 chr14:58364521-58364521;C/T missense_variant False ARID4A@p.E419Q 1 0.28 ENSG00000032219 chr14:58347729-58347729;G/C missense_variant False ARID4A@p.D801H 1 0.367346939 ENSG00000032219 chr14:58364490-58364490;G/C missense_variant False ARID4A@p.D733H 1 0.264367816 ENSG00000032219 chr14:58364286-58364286;G/C missense_variant False ARID4A@p.D730N 1 0.449275362 ENSG00000032219 chr14:58364277-58364277;G/A missense_variant False ARID4A@p.D360E 1 0.234042553 ENSG00000032219 chr14:58347025-58347025;T/G missense_variant False ARID3C@p.R205P 1 0.4 ENSG00000205143 chr9:34623676-34623676;C/G missense_variant False ARID4A@p.R657T 1 0.520408163 ENSG00000032219 chr14:58360932-58360932;G/C missense_variant False ARID4B@p.A1288T 1 0.333333333 ENSG00000054267 chr1:235168602-235168602;C/T missense_variant False ARMC3@p.S814C 1 0.314606742 ENSG00000165309 chr10:23037301-23037301;C/G missense_variant False ARID4B@p.I169T 1 0.909090909 ENSG00000054267 chr1:235240392-235240392;A/G missense_variant False ARID5B@p.R1010Q 1 0.239316239 ENSG00000150347 chr10:62092492-62092492;G/A missense_variant False ARID5B@p.N4T 1 0.402439024 ENSG00000150347 chr10:61901720-61901720;A/C missense_variant False ARID5B@p.E454K 1 0.25203252 ENSG00000150347 chr10:62085862-62085862;G/A missense_variant False ARID5A@p.G373R 1 0.28125 ENSG00000196843 chr2:96551645-96551645;G/C missense_variant False ARID5A@p.A201T 1 0.119047619 ENSG00000196843 chr2:96551129-96551129;G/A missense_variant False ARID4B@p.K1166N 1 0.296703297 ENSG00000054267 chr1:235175350-235175350;C/G missense_variant False ARID4B@p.E983Q 1 0.270967742 ENSG00000054267 chr1:235181972-235181972;C/G missense_variant False ARID4B@p.D1199N 1 0.291666667 ENSG00000054267 chr1:235175253-235175253;C/T missense_variant False ARID4B@p.E976D 1 0.735955056 ENSG00000054267 chr1:235181991-235181991;C/G missense_variant False ARID4B@p.E974K 1 0.121212121 ENSG00000054267 chr1:235181999-235181999;C/T missense_variant False ARID4B@p.E950K 1 0.192771084 ENSG00000054267 chr1:235182071-235182071;C/T missense_variant False ARID4B@p.E460Q 1 0.605263158 ENSG00000054267 chr1:235220331-235220331;C/G missense_variant False ARID4B@p.E460K 1 0.1875 ENSG00000054267 chr1:235220331-235220331;C/T missense_variant False ARID4B@p.D504H 1 0.195652174 ENSG00000054267 chr1:235219866-235219866;C/G missense_variant False ARID3C@p.K312T 1 0.425287356 ENSG00000205143 chr9:34622460-34622460;T/G missense_variant False ARID3C@p.E223K 1 0.5 ENSG00000205143 chr9:34623623-34623623;C/T missense_variant False ARID3C@p.A384S 1 0.476190476 ENSG00000205143 chr9:34621547-34621547;C/A missense_variant False ARID1B@p.K1824N 1 0.301587302 ENSG00000049618 chr6:157206652-157206652;G/C missense_variant True ARID1B@p.W2000L 1 0.449275362 ENSG00000049618 chr6:157207179-157207179;G/T missense_variant True ARID1B@p.S1075L 1 0.466666667 ENSG00000049618 chr6:157181096-157181096;C/T missense_variant True ARID1B@p.R1070T 1 0.216216216 ENSG00000049618 chr6:157181081-157181081;G/C missense_variant True ARID1B@p.Q2139H 1 0.507462687 ENSG00000049618 chr6:157207597-157207597;G/C missense_variant True ARID1B@p.Q1393E 1 0.14 ENSG00000049618 chr6:157200810-157200810;C/G missense_variant True ARID1B@p.P553S 1 0.40625 ENSG00000049618 chr6:156829341-156829341;C/T missense_variant True ARID1B@p.I1903M 1 0.371428571 ENSG00000049618 chr6:157206889-157206889;C/G missense_variant True ARID3B@p.S169F 1 0.292682927 ENSG00000179361 chr15:74544442-74544442;C/T missense_variant False ARID1B@p.H2041Tfs*45 1 0.378151261 ENSG00000049618 chr6:157207300-157207300;G/- frameshift_variant True ARID1B@p.F1658L 1 0.178723404 ENSG00000049618 chr6:157203984-157203984;C/G missense_variant True ARID1B@p.F1139V 1 0.472972973 ENSG00000049618 chr6:157184339-157184339;T/G missense_variant True ARID1B@p.E776K 1 0.482758621 ENSG00000049618 chr6:157110555-157110555;G/A missense_variant True ARID1B@p.E1389Q 1 0.483333333 ENSG00000049618 chr6:157200798-157200798;G/C missense_variant True ARID1B@p.E1111K 1 0.443181818 ENSG00000049618 chr6:157184255-157184255;G/A missense_variant True ARID2@p.A603Lfs*44 1 0.271676301 ENSG00000189079 chr12:45849669-45849669;G/- frameshift_variant True ARID2@p.D629H 1 0.18226601 ENSG00000189079 chr12:45849749-45849749;G/C missense_variant True ARID2@p.E101K 1 0.382978723 ENSG00000189079 chr12:45811434-45811434;G/A missense_variant True ARID2@p.E1784Q 1 0.168224299 ENSG00000189079 chr12:45893708-45893708;G/C missense_variant True ARID2@p.E74K 1 0.114942529 ENSG00000189079 chr12:45731250-45731250;G/A missense_variant True ARID2@p.F369Ifs*4 1 0.160714286 ENSG00000189079 chr12:45837394-45837395;-/GGATA frameshift_variant True ARID2@p.F575Efs*7 1 0.212765957 ENSG00000189079 chr12:45849587-45849606;TTTCCAAATCATACAGTGAA/- frameshift_variant True ARID2@p.G168R 1 0.259259259 ENSG00000189079 chr12:45817753-45817753;G/A missense_variant True ARID2@p.I783N 1 0.314285714 ENSG00000189079 chr12:45850471-45850471;T/A missense_variant True ARID2@p.Q919E 1 0.121621622 ENSG00000189079 chr12:45850878-45850878;C/G missense_variant True ARID2@p.S319F 1 0.259259259 ENSG00000189079 chr12:45836924-45836924;C/T missense_variant True ARID2@p.S564L 1 0.116071429 ENSG00000189079 chr12:45848946-45848946;C/T missense_variant True ARID2@p.T1206M 1 0.466666667 ENSG00000189079 chr12:45851740-45851740;C/T missense_variant True ARID2@p.W69C 1 0.181818182 ENSG00000189079 chr12:45731237-45731237;G/T missense_variant True ARID3B@p.E443K 1 0.185185185 ENSG00000179361 chr15:74591721-74591721;G/A missense_variant False ARID3B@p.F221L 1 0.086956522 ENSG00000179361 chr15:74573170-74573170;C/G missense_variant False ARID3B@p.G172A 1 0.420289855 ENSG00000179361 chr15:74544451-74544451;G/C missense_variant False ARID5B@p.T565I 1 0.178571429 ENSG00000150347 chr10:62091157-62091157;C/T missense_variant False ARID5B@p.Y398C 1 0.138888889 ENSG00000150347 chr10:62069791-62069791;A/G missense_variant False ARID5B@p.Y679C 1 0.272727273 ENSG00000150347 chr10:62091499-62091499;A/G missense_variant False ARL6IP5@p.F14L 1 0.488372093 ENSG00000144746 chr3:69085089-69085089;C/A missense_variant False ARL8A@p.R87L 1 0.148148148 ENSG00000143862 chr1:202137983-202137983;C/A missense_variant False ARL8A@p.R87G 1 0.142857143 ENSG00000143862 chr1:202137984-202137984;G/C missense_variant False ARL8A@p.E166Q 1 0.086956522 ENSG00000143862 chr1:202135165-202135165;C/G missense_variant False ARL6IP6@p.L156V 1 0.229508197 ENSG00000177917 chr2:152735005-152735005;C/G missense_variant False ARL6IP6@p.L120V 1 0.293103448 ENSG00000177917 chr2:152718982-152718982;C/G missense_variant False ARL6IP5@p.V76M 1 0.321428571 ENSG00000144746 chr3:69101888-69101888;G/A missense_variant False ARL6IP4@p.E94K 1 0.5 ENSG00000182196 chr12:122980484-122980484;G/A missense_variant False ARL4A@p.F73L 1 0.086956522 ENSG00000122644 chr7:12688473-12688473;C/G missense_variant False ARL5B@p.T44I 1 0.326530612 ENSG00000165997 chr10:18668553-18668553;C/T missense_variant False ARL5B@p.I21T 1 0.292682927 ENSG00000165997 chr10:18666590-18666590;T/C missense_variant False ARL5B@p.I122M 1 0.145833333 ENSG00000165997 chr10:18674010-18674010;C/G missense_variant False ARL4D@p.R121Q 1 0.542857143 ENSG00000175906 chr17:43400094-43400094;G/A missense_variant False ARL4C@p.F11Y 1 0.217391304 ENSG00000188042 chr2:234496555-234496555;A/T missense_variant False ARL4C@p.E170K 1 0.26 ENSG00000188042 chr2:234496079-234496079;C/T missense_variant False ARL8B@p.K62N 1 0.16 ENSG00000134108 chr3:5170565-5170565;A/T missense_variant False ARL9@p.I169V 1 0.438356164 ENSG00000196503 chr4:56518740-56518740;A/G missense_variant False ARMC10@p.D86E 1 0.735849057 ENSG00000170632 chr7:103083695-103083695;T/A missense_variant False ARMC10@p.E294Q 1 0.0859375 ENSG00000170632 chr7:103098401-103098401;G/C missense_variant False ARMC10@p.L191V 1 0.371428571 ENSG00000170632 chr7:103092519-103092519;C/G missense_variant False ARMC12@p.F239L 1 0.085365854 ENSG00000157343 chr6:35748564-35748564;C/G missense_variant False ARMC12@p.L316V 1 0.251851852 ENSG00000157343 chr6:35748793-35748793;C/G missense_variant False ARMC1@p.D37G 1 0.421487603 ENSG00000104442 chr8:65627289-65627289;T/C missense_variant False ARMC2@p.D83N 1 0.52173913 ENSG00000118690 chr6:108858227-108858227;G/A missense_variant False ARMC2@p.R229I 1 0.137254902 ENSG00000118690 chr6:108894481-108894481;G/T missense_variant False ARMC2@p.R851Q 1 0.508474576 ENSG00000118690 chr6:108973462-108973462;G/A missense_variant False ARMC2@p.S736C 1 0.244444444 ENSG00000118690 chr6:108964234-108964234;C/G missense_variant False ARMC3@p.D305H 1 0.317307692 ENSG00000165309 chr10:22968486-22968486;G/C missense_variant False ARMC3@p.H250Y 1 0.352941176 ENSG00000165309 chr10:22968321-22968321;C/T missense_variant False ARMC3@p.L861F 1 0.24 ENSG00000165309 chr10:23037443-23037443;G/C missense_variant False ARMC3@p.N515D 1 0.325581395 ENSG00000165309 chr10:23002036-23002036;A/G missense_variant False ARMC3@p.R798Q 1 0.243243243 ENSG00000165309 chr10:23033007-23033007;G/A missense_variant False ARL4A@p.G172E 1 0.238636364 ENSG00000122644 chr7:12688769-12688769;G/A missense_variant False ARL4A@p.E44Q 1 0.238636364 ENSG00000122644 chr7:12688384-12688384;G/C missense_variant False ARIH1@p.L191F 1 0.097087379 ENSG00000166233 chr15:72544949-72544949;G/C missense_variant False ARIH2@p.H293D 1 0.255813953 ENSG00000177479 chr3:48973805-48973805;C/G missense_variant False ARL13B@p.G40V 1 0.163934426 ENSG00000169379 chr3:93995933-93995933;G/T missense_variant False ARL13B@p.E274Q 1 0.285714286 ENSG00000169379 chr3:94043036-94043036;G/C missense_variant False ARIH2@p.Y17C 1 0.421052632 ENSG00000177479 chr3:48927608-48927608;A/G missense_variant False ARIH2@p.R191Vfs*16 1 0.42172524 ENSG00000177479 chr3:48968565-48968565;C/- frameshift_variant False ARIH2@p.P298S 1 0.833333333 ENSG00000177479 chr3:48974820-48974820;C/T missense_variant False ARIH2@p.H293Tfs*35 1 0.189393939 ENSG00000177479 chr3:48973805-48973805;C/- frameshift_variant False ARIH2@p.G402R 1 0.375 ENSG00000177479 chr3:48980443-48980443;G/C missense_variant False ARL4A@p.E123K 1 0.130434783 ENSG00000122644 chr7:12688621-12688621;G/A missense_variant False ARIH2@p.E305Q 1 0.1125 ENSG00000177479 chr3:48974841-48974841;G/C missense_variant False ARIH2@p.E305K 1 0.047619048 ENSG00000177479 chr3:48974841-48974841;G/A missense_variant False ARIH2@p.D175A 1 0.61627907 ENSG00000177479 chr3:48967261-48967261;A/C missense_variant False ARIH1@p.R535L 1 0.142857143 ENSG00000166233 chr15:72583222-72583222;G/T missense_variant False ARIH1@p.R363C 1 0.423076923 ENSG00000166233 chr15:72570237-72570237;C/T missense_variant False ARIH1@p.Q187E 1 0.222222222 ENSG00000166233 chr15:72544935-72544935;C/G missense_variant False ARL13B@p.L4V 1 0.166666667 ENSG00000169379 chr3:93980433-93980433;C/G missense_variant False ARL13B@p.R79W 1 0.157894737 ENSG00000169379 chr3:94003763-94003763;C/T missense_variant False ARL13B@p.T334S 1 0.224489796 ENSG00000169379 chr3:94043216-94043216;A/T missense_variant False ARL14@p.D90N 1 0.126213592 ENSG00000179674 chr3:160677614-160677614;G/A missense_variant False ARL14@p.F140S 1 0.109589041 ENSG00000179674 chr3:160677765-160677765;T/C missense_variant False ARL14@p.G173E 1 0.4 ENSG00000179674 chr3:160677864-160677864;G/A missense_variant False ARL14@p.T160R 1 0.154929577 ENSG00000179674 chr3:160677825-160677825;C/G missense_variant False ARL14EP@p.D96H 1 0.162162162 ENSG00000152219 chr11:30331234-30331234;G/C missense_variant False ARL15@p.D87N 1 0.172413793 ENSG00000185305 chr5:54113405-54113405;C/T missense_variant False ARL15@p.R120T 1 0.344827586 ENSG00000185305 chr5:54113305-54113305;C/G missense_variant False ARL15@p.R95H 1 0.378787879 ENSG00000185305 chr5:54113380-54113380;C/T missense_variant False ARL16@p.I90M 1 0.219435737 ENSG00000214087 chr17:81683049-81683049;G/C missense_variant False ARL16@p.L9F 1 0.097560976 ENSG00000214087 chr17:81683799-81683799;C/G missense_variant False ARL16@p.M152I 1 0.357142857 ENSG00000214087 chr17:81681846-81681846;C/T missense_variant False ARL16@p.R76I 1 0.28956229 ENSG00000214087 chr17:81683092-81683092;C/A missense_variant False ARL2BP@p.E74K 1 0.148648649 ENSG00000102931 chr16:57249779-57249779;G/A missense_variant False ARL3@p.R75T 1 0.428571429 ENSG00000138175 chr10:102699413-102699413;C/G missense_variant False ARID1B@p.E1055K 1 0.214285714 ENSG00000049618 chr6:157181035-157181035;G/A missense_variant True ARID1B@p.A2137V 1 0.537931034 ENSG00000049618 chr6:157207590-157207590;C/T missense_variant True ARID1A@p.Y551Lfs*72 1 0.322335025 ENSG00000117713 chr1:26731445-26731446;-/C frameshift_variant True ARHGEF3@p.I127M 1 0.26446281 ENSG00000163947 chr3:56753561-56753561;G/C missense_variant False ARHGEF40@p.L1168F 1 0.258064516 ENSG00000165801 chr14:21082846-21082846;C/T missense_variant False ARHGEF40@p.K382N 1 0.153846154 ENSG00000165801 chr14:21074876-21074876;G/C missense_variant False ARHGEF40@p.E1180Q 1 0.098360656 ENSG00000165801 chr14:21082882-21082882;G/C missense_variant False ARHGEF3@p.R89T 1 0.536 ENSG00000163947 chr3:56755090-56755090;C/G missense_variant False ARHGEF3@p.Q377K 1 0.075 ENSG00000163947 chr3:56732337-56732337;G/T missense_variant False ARHGEF3@p.L51V 1 0.75 ENSG00000163947 chr3:56773762-56773762;G/C missense_variant False ARHGEF3@p.G168V 1 0.371428571 ENSG00000163947 chr3:56751332-56751332;C/A missense_variant False ARHGEF35@p.S15F 1 0.254385965 ENSG00000213214 chr7:144188340-144188340;G/A missense_variant False ARHGEF3@p.D388H 1 0.125 ENSG00000163947 chr3:56732304-56732304;C/G missense_variant False ARHGEF37@p.S73L 1 0.333333333 ENSG00000183111 chr5:149601139-149601139;C/T missense_variant False ARHGEF37@p.R472C 1 0.458333333 ENSG00000183111 chr5:149624090-149624090;C/T missense_variant False ARHGEF37@p.P507R 1 0.152542373 ENSG00000183111 chr5:149627131-149627131;C/G missense_variant False ARHGEF37@p.E574Q 1 0.363636364 ENSG00000183111 chr5:149628868-149628868;G/C missense_variant False ARHGEF37@p.E24K 1 0.533333333 ENSG00000183111 chr5:149597839-149597839;G/A missense_variant False ARHGEF40@p.R185Q 1 0.566666667 ENSG00000165801 chr14:21074284-21074284;G/A missense_variant False ARHGEF4@p.E157K 1 0.396226415 ENSG00000136002 chr2:131027986-131027986;G/A missense_variant False ARHGEF4@p.P110L 1 0.122580645 ENSG00000136002 chr2:130946537-130946537;C/T missense_variant False ARHGEF5@p.E169K 1 0.064864865 ENSG00000050327 chr7:144363174-144363174;G/A missense_variant False ARHGEF5@p.E18Q 1 0.123222749 ENSG00000050327 chr7:144362721-144362721;G/C missense_variant False ARHGEF5@p.G323E 1 0.110294118 ENSG00000050327 chr7:144363637-144363637;G/A missense_variant False ARHGEF5@p.Q90K 1 0.124260355 ENSG00000050327 chr7:144362937-144362937;C/A missense_variant False ARHGEF5@p.R1575H 1 0.45320197 ENSG00000050327 chr7:144379986-144379986;G/A missense_variant False ARHGEF6@p.N704S 1 0.309859155 ENSG00000129675 chrX:136672044-136672044;T/C missense_variant False ARHGEF6@p.P583S 1 0.054945055 ENSG00000129675 chrX:136679618-136679618;G/A missense_variant False ARHGEF6@p.Q162E 1 0.182926829 ENSG00000129675 chrX:136743762-136743762;G/C missense_variant False ARHGEF6@p.Q359E 1 0.255319149 ENSG00000129675 chrX:136690720-136690720;G/C missense_variant False ARHGEF6@p.Q419E 1 0.274193548 ENSG00000129675 chrX:136685814-136685814;G/C missense_variant False ARHGEF6@p.T190I 1 0.522222222 ENSG00000129675 chrX:136743677-136743677;G/A missense_variant False ARHGEF7@p.E571Q 1 0.487951807 ENSG00000102606 chr13:111280600-111280600;G/C missense_variant False ARHGEF7@p.E786Q 1 0.109489051 ENSG00000102606 chr13:111300792-111300792;G/C missense_variant False ARHGEF7@p.F385L 1 0.126582278 ENSG00000102606 chr13:111273832-111273832;C/A missense_variant False ARHGEF37@p.D636E 1 0.114754098 ENSG00000183111 chr5:149632071-149632071;C/A missense_variant False ARHGEF35@p.L428F 1 0.272727273 ENSG00000213214 chr7:144187102-144187102;G/A missense_variant False ARHGEF7@p.P585S 1 0.25 ENSG00000102606 chr13:111280642-111280642;C/T missense_variant False ARHGEF1@p.E40K 1 0.411764706 ENSG00000076928 chr19:41888758-41888758;G/A missense_variant False ARHGEF25@p.E94K 1 0.314285714 ENSG00000240771 chr12:57613112-57613112;G/A missense_variant False ARHGEF25@p.E170Q 1 0.25 ENSG00000240771 chr12:57613716-57613716;G/C missense_variant False ARHGEF1@p.R6Q 1 0.157894737 ENSG00000076928 chr19:41888099-41888099;G/A missense_variant False ARHGEF1@p.R6P 1 0.138888889 ENSG00000076928 chr19:41888099-41888099;G/C missense_variant False ARHGEF1@p.R310W 1 0.341463415 ENSG00000076928 chr19:41895399-41895399;C/T missense_variant False ARHGEF1@p.E843K 1 0.362318841 ENSG00000076928 chr19:41906492-41906492;G/A missense_variant False ARHGEF19@p.Q661R 1 0.462365591 ENSG00000142632 chr1:16202500-16202500;T/C missense_variant False ARHGEF2@p.S896R 1 0.331081081 ENSG00000116584 chr1:155950844-155950844;A/T missense_variant False ARHGEF19@p.M244I 1 0.212598425 ENSG00000142632 chr1:16207740-16207740;C/T missense_variant False ARHGEF19@p.L209V 1 0.296875 ENSG00000142632 chr1:16208013-16208013;G/C missense_variant False ARHGEF19@p.K428N 1 0.620689655 ENSG00000142632 chr1:16206194-16206194;C/G missense_variant False ARHGEF18@p.Q594H 1 0.329787234 ENSG00000104880 chr19:7462207-7462207;G/T missense_variant False ARHGEF18@p.Q387L 1 0.192592593 ENSG00000104880 chr19:7453497-7453497;A/T missense_variant False ARHGEF18@p.Q145H 1 0.121387283 ENSG00000104880 chr19:7441707-7441707;G/C missense_variant False ARHGEF25@p.F471L 1 0.149253731 ENSG00000240771 chr12:57616008-57616008;T/C missense_variant False ARHGEF25@p.G503V 1 0.173076923 ENSG00000240771 chr12:57616371-57616371;G/T missense_variant False ARHGEF25@p.K156E 1 0.387096774 ENSG00000240771 chr12:57613497-57613497;A/G missense_variant False ARHGEF25@p.K156T 1 0.396825397 ENSG00000240771 chr12:57613498-57613498;A/C missense_variant False ARHGEF25@p.L199V 1 0.47826087 ENSG00000240771 chr12:57614058-57614058;C/G missense_variant False ARHGEF26@p.P125Q 1 0.242424242 ENSG00000114790 chr3:154122366-154122366;C/A missense_variant False ARHGEF26@p.R107G 1 0.25 ENSG00000114790 chr3:154122311-154122311;C/G missense_variant False ARHGEF26@p.S172L 1 0.260869565 ENSG00000114790 chr3:154122507-154122507;C/T missense_variant False ARHGEF28@p.A437S 1 0.4 ENSG00000214944 chr5:73840642-73840642;G/T missense_variant False ARHGEF28@p.A437V 1 0.4 ENSG00000214944 chr5:73840643-73840643;C/T missense_variant False ARHGEF28@p.G78S 1 0.315789474 ENSG00000214944 chr5:73752959-73752959;G/A missense_variant False ARHGEF28@p.L409V 1 0.444444444 ENSG00000214944 chr5:73840558-73840558;C/G missense_variant False ARHGEF28@p.N1071Mfs*10 1 0.270833333 ENSG00000214944 chr5:73886002-73886002;A/- frameshift_variant False ARHGEF28@p.P895S 1 0.846153846 ENSG00000214944 chr5:73873115-73873115;C/T missense_variant False ARHGEF28@p.S531F 1 0.142857143 ENSG00000214944 chr5:73846432-73846432;C/T missense_variant False ARHGEF2@p.E855Q 1 0.5 ENSG00000116584 chr1:155950969-155950969;C/G missense_variant False ARHGEF2@p.S522L 1 0.25 ENSG00000116584 chr1:155957863-155957863;G/A missense_variant False ARHGEF7@p.H595N 1 0.466666667 ENSG00000102606 chr13:111280672-111280672;C/A missense_variant False ARHGEF7@p.S147L 1 0.50862069 ENSG00000102606 chr13:111209911-111209911;C/T missense_variant False ARID1A@p.Y500Lfs*123 1 0.330388693 ENSG00000117713 chr1:26731298-26731299;-/T frameshift_variant True ARID1A@p.Q1512H 1 0.331395349 ENSG00000117713 chr1:26774763-26774763;G/C missense_variant True ARID1A@p.Q758Rfs*75 1 0.25862069 ENSG00000117713 chr1:26762168-26762168;C/- frameshift_variant True ARID1A@p.Q605E 1 0.137931034 ENSG00000117713 chr1:26732685-26732685;C/G missense_variant True ARID1A@p.Q505Hfs*113 1 0.705479452 ENSG00000117713 chr1:26731316-26731319;GTCT/- frameshift_variant True ARID1A@p.Q393Rfs*3 1 0.23255814 ENSG00000117713 chr1:26729690-26729700;CAGCCATATGG/- frameshift_variant True ARID1A@p.Q2188H 1 0.273809524 ENSG00000117713 chr1:26780462-26780462;G/T missense_variant True ARID1A@p.Q1650E 1 0.15 ENSG00000117713 chr1:26775175-26775175;C/G missense_variant True ARID1A@p.P947Hfs*21 1 0.1015625 ENSG00000117713 chr1:26766324-26766324;C/- frameshift_variant True ARID1A@p.N820Mfs*5 1 0.355932203 ENSG00000117713 chr1:26763010-26763037;CAATGCCAACTACCCCAGTGCAGGCATG/AAT frameshift_variant True ARID1A@p.P729Vfs*84 1 0.2 ENSG00000117713 chr1:26761402-26761412;GGCCACCCAGT/- frameshift_variant True ARID1A@p.P680T 1 0.246376812 ENSG00000117713 chr1:26760973-26760973;C/A missense_variant True ARID1A@p.P598Lfs*21 1 0.28030303 ENSG00000117713 chr1:26731592-26731592;C/- frameshift_variant True ARID1A@p.P508Afs*112 1 0.17218543 ENSG00000117713 chr1:26731322-26731329;ACCACCAC/- frameshift_variant True ARID1A@p.P452R 1 0.332142857 ENSG00000117713 chr1:26731156-26731156;C/G missense_variant True ARID1A@p.P1605S 1 0.147540984 ENSG00000117713 chr1:26775040-26775040;C/T missense_variant True ARID1A@p.Q802Vfs*32 1 0.307692308 ENSG00000117713 chr1:26762296-26762297;-/GG frameshift_variant True ARID1A@p.R1287T 1 0.2 ENSG00000117713 chr1:26773490-26773490;G/C missense_variant True ARID1A@p.R1511Sfs*16 1 0.185714286 ENSG00000117713 chr1:26774759-26774759;G/- frameshift_variant True ARID1A@p.R2233_L2238del 1 0.164285714 ENSG00000117713 chr1:26780594-26780611;GCGGGCTGCCCGCGCGCT/- inframe_deletion True ARID1A@p.S1000F 1 0.3 ENSG00000117713 chr1:26767800-26767800;C/T missense_variant True ARID1A@p.S1171Rfs*8 1 0.256410256 ENSG00000117713 chr1:26772603-26772606;CAGT/- frameshift_variant True ARID1A@p.S1242Rfs*16 1 0.432835821 ENSG00000117713 chr1:26773355-26773356;GT/- frameshift_variant True ARID1A@p.S1312Y 1 0.2 ENSG00000117713 chr1:26773648-26773648;C/A missense_variant True ARID1A@p.S1600F 1 0.436363636 ENSG00000117713 chr1:26775026-26775026;C/T missense_variant True ARID1A@p.S1602Rfs*10 1 0.102272727 ENSG00000117713 chr1:26775033-26775033;C/- frameshift_variant True ARID1A@p.S2104Pfs*31 1 0.358024691 ENSG00000117713 chr1:26780201-26780201;C/- frameshift_variant True ARID1A@p.S552L 1 0.126984127 ENSG00000117713 chr1:26731456-26731456;C/T missense_variant True ARID1A@p.S614L 1 0.37037037 ENSG00000117713 chr1:26732713-26732713;C/T missense_variant True ARID1A@p.S637C 1 0.333333333 ENSG00000117713 chr1:26732782-26732782;C/G missense_variant True ARID1A@p.S698Vfs*119 1 0.261904762 ENSG00000117713 chr1:26761021-26761022;-/C frameshift_variant True ARID1A@p.S715L 1 0.325 ENSG00000117713 chr1:26761079-26761079;C/T missense_variant True ARID1A@p.S744Rfs*66 1 0.183333333 ENSG00000117713 chr1:26761451-26761470;ATCAAGCATTGCCCAAGATC/- frameshift_variant True ARID1A@p.P1554Hfs*11 1 0.386861314 ENSG00000117713 chr1:26774884-26774884;C/- frameshift_variant True ARID1A@p.N1471Kfs*20 1 0.4875 ENSG00000117713 chr1:26774637-26774638;-/A frameshift_variant True ARHGEF7@p.S774C 1 0.14516129 ENSG00000102606 chr13:111292241-111292241;C/G missense_variant False ARID1A@p.C1981Y 1 0.653225806 ENSG00000117713 chr1:26779840-26779840;G/A missense_variant True ARID1A@p.E2000Q 1 0.279411765 ENSG00000117713 chr1:26779896-26779896;G/C missense_variant True ARID1A@p.E1683Q 1 0.2 ENSG00000117713 chr1:26775630-26775630;G/C missense_variant True ARID1A@p.E1444Q 1 0.167701863 ENSG00000117713 chr1:26774557-26774557;G/C missense_variant True ARID1A@p.D1912N 1 0.520547945 ENSG00000117713 chr1:26779632-26779632;G/A missense_variant True ARID1A@p.D1536Efs*34 1 0.142857143 ENSG00000117713 chr1:26774831-26774835;CAGAT/- frameshift_variant True ARID1A@p.D1112N 1 0.272727273 ENSG00000117713 chr1:26771254-26771254;G/A missense_variant True ARID1A@p.A955T 1 0.457831325 ENSG00000117713 chr1:26766351-26766351;G/A missense_variant True ARID1A@p.M923I 1 0.415384615 ENSG00000117713 chr1:26766257-26766257;G/A missense_variant True ARID1A@p.A2237P 1 0.244648318 ENSG00000117713 chr1:26780607-26780607;G/C missense_variant True ARID1A@p.A2234Lfs*33 1 0.203125 ENSG00000117713 chr1:26780596-26780596;G/- frameshift_variant True ARHGEF9@p.R334C 1 0.714285714 ENSG00000131089 chrX:63665942-63665942;G/A missense_variant False ARHGEF9@p.E318Q 1 0.326923077 ENSG00000131089 chrX:63665990-63665990;C/G missense_variant False ARHGEF9@p.E110K 1 0.4 ENSG00000131089 chrX:63706311-63706311;C/T missense_variant False ARHGEF7@p.Y500S 1 0.364864865 ENSG00000102606 chr13:111277603-111277603;A/C missense_variant False ARID1A@p.E2035K 1 0.417910448 ENSG00000117713 chr1:26780001-26780001;G/A missense_variant True ARID1A@p.E2250Vfs*27 1 0.55 ENSG00000117713 chr1:26780645-26780646;AG/- frameshift_variant True ARID1A@p.E654K 1 0.219512195 ENSG00000117713 chr1:26760895-26760895;G/A missense_variant True ARID1A@p.F1457L 1 0.169014085 ENSG00000117713 chr1:26774598-26774598;C/G missense_variant True ARID1A@p.F1704L 1 0.204545455 ENSG00000117713 chr1:26775695-26775695;C/G missense_variant True ARID1A@p.F2141Sfs*59 1 0.13253012 ENSG00000117713 chr1:26780313-26780313;C/- frameshift_variant True ARID1A@p.G1926A 1 0.268041237 ENSG00000117713 chr1:26779675-26779675;G/C missense_variant True ARID1A@p.G830A 1 0.255319149 ENSG00000117713 chr1:26763042-26763042;G/C missense_variant True ARID1A@p.H495Y 1 0.205357143 ENSG00000117713 chr1:26731284-26731284;C/T missense_variant True ARID1A@p.K1815* 1 0.163934426 ENSG00000117713 chr1:26779338-26779339;-/TA frameshift_variant True ARID1A@p.L1694Cfs*9 1 0.261904762 ENSG00000117713 chr1:26775662-26775662;C/- frameshift_variant True ARID1A@p.L2011R 1 0.32173913 ENSG00000117713 chr1:26779930-26779930;T/G missense_variant True ARID1A@p.L2071S 1 0.311688312 ENSG00000117713 chr1:26780110-26780110;T/C missense_variant True ARID1A@p.L573V 1 0.118604651 ENSG00000117713 chr1:26731518-26731518;C/G missense_variant True ARID1A@p.M1318Dfs*5 1 0.203703704 ENSG00000117713 chr1:26773660-26773661;-/G frameshift_variant True ARID1A@p.M1564Hfs*8 1 0.196721311 ENSG00000117713 chr1:26774910-26774911;-/C frameshift_variant True ARID1A@p.M918Kfs*19 1 0.45 ENSG00000117713 chr1:26766236-26766237;-/AATA frameshift_variant True ARMC3@p.R817C 1 0.460526316 ENSG00000165309 chr10:23037309-23037309;C/T missense_variant False ARMC3@p.T73S 1 0.227272727 ENSG00000165309 chr10:22955858-22955858;C/G missense_variant False ASGR2@p.V179L 1 0.141304348 ENSG00000161944 chr17:7107128-7107128;C/G missense_variant False ASAH1@p.E80K 1 0.176470588 ENSG00000104763 chr8:18071326-18071326;C/T missense_variant False ASAH2@p.R184K 1 0.127272727 ENSG00000188611 chr10:50236024-50236024;C/T missense_variant False ASAH2@p.P266T 1 0.428571429 ENSG00000188611 chr10:50234444-50234444;G/T missense_variant False ASAH2@p.L439R 1 0.447761194 ENSG00000188611 chr10:50211046-50211046;A/C missense_variant False ASAH2@p.G132D 1 0.109589041 ENSG00000188611 chr10:50243317-50243317;C/T missense_variant False ASAH2@p.A426V 1 0.276595745 ENSG00000188611 chr10:50211085-50211085;G/A missense_variant False ASAH1@p.L183F 1 0.078125 ENSG00000104763 chr8:18063189-18063189;G/A missense_variant False ASAH1@p.E129* 1 0.181818182 ENSG00000104763 chr8:18067265-18067266;-/A frameshift_variant False ASAP1@p.A5V 1 0.203125 ENSG00000153317 chr8:130401930-130401930;G/A missense_variant False ASAH1@p.D140Y 1 0.466666667 ENSG00000104763 chr8:18067232-18067232;C/A missense_variant False AS3MT@p.D150H 1 0.318681319 ENSG00000214435 chr10:102873223-102873223;G/C missense_variant False AS3MT@p.A171T 1 0.5 ENSG00000214435 chr10:102874644-102874644;G/A missense_variant False ARX@p.R364W 1 0.72 ENSG00000004848 chrX:25010289-25010289;T/A missense_variant False ARVCF@p.V729I 1 0.117948718 ENSG00000099889 chr22:19973697-19973697;C/T missense_variant False ARVCF@p.V141M 1 0.422222222 ENSG00000099889 chr22:19981686-19981686;C/T missense_variant False ASAH2@p.R361H 1 0.333333333 ENSG00000188611 chr10:50214801-50214801;C/T missense_variant False ASAP1@p.E1042Q 1 0.27 ENSG00000153317 chr8:130060647-130060647;C/G missense_variant False ARMC3@p.Y50H 1 0.076923077 ENSG00000165309 chr10:22946243-22946243;T/C missense_variant False ASAP2@p.E962K 1 0.125 ENSG00000151693 chr2:9401334-9401334;G/A missense_variant False ASAP2@p.S448Y 1 0.125944584 ENSG00000151693 chr2:9358771-9358771;C/A missense_variant False ASAP2@p.R533S 1 0.094594595 ENSG00000151693 chr2:9374797-9374797;G/C missense_variant False ASAP2@p.R288C 1 0.507246377 ENSG00000151693 chr2:9344544-9344544;C/T missense_variant False ASAP2@p.Q299K 1 0.252252252 ENSG00000151693 chr2:9344577-9344577;C/A missense_variant False ASAP2@p.N301Y 1 0.1875 ENSG00000151693 chr2:9344583-9344583;A/T missense_variant False ASAP2@p.I61M 1 0.421875 ENSG00000151693 chr2:9279373-9279373;C/G missense_variant False ASAP2@p.D718N 1 0.257142857 ENSG00000151693 chr2:9388315-9388315;G/A missense_variant False ASAP1@p.E1090K 1 0.344827586 ENSG00000153317 chr8:130058001-130058001;C/T missense_variant False ASAP1@p.R764Q 1 0.25 ENSG00000153317 chr8:130112204-130112204;C/T missense_variant False ASAP1@p.R539Q 1 0.563636364 ENSG00000153317 chr8:130118667-130118667;C/T missense_variant False ASAP1@p.L721V 1 0.090517241 ENSG00000153317 chr8:130115639-130115639;G/C missense_variant False ASAP1@p.K209Rfs*33 1 0.086538462 ENSG00000153317 chr8:130180785-130180785;T/- frameshift_variant False ASAP1@p.G310A 1 0.146666667 ENSG00000153317 chr8:130159945-130159945;C/G missense_variant False ASAP1@p.E520K 1 0.446428571 ENSG00000153317 chr8:130124062-130124062;C/T missense_variant False ARVCF@p.S916C 1 0.328947368 ENSG00000099889 chr22:19971920-19971920;G/C missense_variant False ARVCF@p.R759C 1 0.178571429 ENSG00000099889 chr22:19973282-19973282;G/A missense_variant False ARVCF@p.R418C 1 0.315789474 ENSG00000099889 chr22:19979887-19979887;G/A missense_variant False ARSK@p.L105V 1 0.176470588 ENSG00000164291 chr5:95567946-95567946;C/G missense_variant False ART1@p.S303C 1 0.432989691 ENSG00000129744 chr11:3664113-3664113;C/G missense_variant False ART1@p.C277G 1 0.071428571 ENSG00000129744 chr11:3660348-3660348;T/G missense_variant False ART1@p.A227T 1 0.333333333 ENSG00000129744 chr11:3660198-3660198;G/A missense_variant False ARSL@p.G372R 1 0.423728814 ENSG00000157399 chrX:2943077-2943077;C/T missense_variant False ARSL@p.G117R 1 0.571428571 ENSG00000157399 chrX:2953224-2953224;C/T missense_variant False ARSK@p.P371S 1 0.225806452 ENSG00000164291 chr5:95600861-95600861;C/T missense_variant False ARSK@p.D524N 1 0.323529412 ENSG00000164291 chr5:95603485-95603485;G/A missense_variant False ARVCF@p.P587T 1 0.475862069 ENSG00000099889 chr22:19977526-19977526;G/T missense_variant False ARSJ@p.L309Rfs*45 1 0.181818182 ENSG00000180801 chr4:113903140-113903149;TTAGAGCCAA/- frameshift_variant False ARSJ@p.L103V 1 0.363636364 ENSG00000180801 chr4:113978528-113978528;G/C missense_variant False ARSJ@p.D85N 1 0.233333333 ENSG00000180801 chr4:113978582-113978582;C/T missense_variant False ARSI@p.R543C 1 0.308176101 ENSG00000183876 chr5:150297297-150297297;G/A missense_variant False ARSH@p.S243F 1 0.176470588 ENSG00000205667 chrX:3015357-3015357;C/T missense_variant False ARSH@p.P132L 1 0.44 ENSG00000205667 chrX:3015024-3015024;C/T missense_variant False ART1@p.S303F 1 0.75 ENSG00000129744 chr11:3664113-3664113;C/T missense_variant False ART1@p.T67K 1 0.692307692 ENSG00000129744 chr11:3659719-3659719;C/A missense_variant False ART3@p.D216H 1 0.228571429 ENSG00000156219 chr4:76082400-76082400;G/C missense_variant False ART3@p.K81N 1 0.174603175 ENSG00000156219 chr4:76081997-76081997;G/C missense_variant False ART3@p.M88I 1 0.485714286 ENSG00000156219 chr4:76082018-76082018;G/T missense_variant False ART3@p.N296Y 1 0.279569892 ENSG00000156219 chr4:76100803-76100803;A/T missense_variant False ART3@p.S252G 1 0.175824176 ENSG00000156219 chr4:76082508-76082508;A/G missense_variant False ART3@p.Y131C 1 0.2 ENSG00000156219 chr4:76082146-76082146;A/G missense_variant False ARTN@p.R189Q 1 0.473684211 ENSG00000117407 chr1:43936668-43936668;G/A missense_variant False ARTN@p.T10M 1 0.391304348 ENSG00000117407 chr1:43935685-43935685;C/T missense_variant False ARV1@p.I55L 1 0.083333333 ENSG00000173409 chr1:230979268-230979268;A/T missense_variant False ARV1@p.P195T 1 0.2375 ENSG00000173409 chr1:230995894-230995894;C/A missense_variant False ARV1@p.R46Q 1 0.163265306 ENSG00000173409 chr1:230979242-230979242;G/A missense_variant False ARVCF@p.D869N 1 0.257142857 ENSG00000099889 chr22:19972773-19972773;C/T missense_variant False ARVCF@p.E503K 1 0.295454545 ENSG00000099889 chr22:19978970-19978970;C/T missense_variant False ARVCF@p.E596K 1 0.812101911 ENSG00000099889 chr22:19977499-19977499;C/T missense_variant False ARVCF@p.E662K 1 0.461538462 ENSG00000099889 chr22:19974216-19974216;C/T missense_variant False ASAP3@p.E504K 1 0.164556962 ENSG00000088280 chr1:23436621-23436621;C/T missense_variant False ASB11@p.A80V 1 0.368421053 ENSG00000165192 chrX:15302750-15302750;G/A missense_variant False ASB11@p.Q158H 1 0.475806452 ENSG00000165192 chrX:15293216-15293216;C/G missense_variant False ASCC3@p.E545K 1 0.171052632 ENSG00000112249 chr6:100766669-100766669;C/T missense_variant False ASCC3@p.I425T 1 0.363636364 ENSG00000112249 chr6:100798834-100798834;A/G missense_variant False ASCC3@p.H2001Q 1 0.130208333 ENSG00000112249 chr6:100516252-100516252;A/C missense_variant False ASCC3@p.H1826Q 1 0.71969697 ENSG00000112249 chr6:100589706-100589706;A/T missense_variant False ASCC3@p.G2134A 1 0.091346154 ENSG00000112249 chr6:100509992-100509992;C/G missense_variant False ASCC3@p.F163Lfs*5 1 0.157894737 ENSG00000112249 chr6:100848460-100848460;A/- frameshift_variant False ASCC3@p.E912Q 1 0.171875 ENSG00000112249 chr6:100655788-100655788;C/G missense_variant False ASCC3@p.E371K 1 0.15625 ENSG00000112249 chr6:100800316-100800316;C/T missense_variant False ASB8@p.L267F 1 0.271428571 ENSG00000177981 chr12:48149434-48149434;G/A missense_variant False ASCC3@p.E2113K 1 0.258536585 ENSG00000112249 chr6:100510056-100510056;C/T missense_variant False ASCC3@p.E1095K 1 0.142857143 ENSG00000112249 chr6:100647421-100647421;C/T missense_variant False ASCC3@p.A1932T 1 0.098039216 ENSG00000112249 chr6:100518124-100518124;C/T missense_variant False ASCC2@p.S470F 1 0.375 ENSG00000100325 chr22:29802153-29802153;G/A missense_variant False ASCC2@p.E484K 1 0.146341463 ENSG00000100325 chr22:29802112-29802112;C/T missense_variant False ASCC2@p.E389K 1 0.241457859 ENSG00000100325 chr22:29804826-29804826;C/T missense_variant False ASCC3@p.I559V 1 0.349593496 ENSG00000112249 chr6:100766627-100766627;T/C missense_variant False ASCC3@p.L1466I 1 0.269230769 ENSG00000112249 chr6:100627967-100627967;G/T missense_variant False ASCC3@p.L1559Ffs*19 1 0.134615385 ENSG00000112249 chr6:100625287-100625300;ATGAGACAAATATC/- frameshift_variant False ASCC3@p.L1573F 1 0.234042553 ENSG00000112249 chr6:100625258-100625258;C/G missense_variant False ASCC3@p.R1067Q 1 0.287878788 ENSG00000112249 chr6:100650590-100650590;C/T missense_variant False ASCC3@p.R1674H 1 0.681818182 ENSG00000112249 chr6:100606763-100606763;C/T missense_variant False ASCC3@p.S14L 1 0.142857143 ENSG00000112249 chr6:100867957-100867957;G/A missense_variant False ASCL1@p.E225K 1 0.208333333 ENSG00000139352 chr12:102958917-102958917;G/A missense_variant False ASCL1@p.P94H 1 0.266666667 ENSG00000139352 chr12:102958525-102958525;C/A missense_variant False ASCL1@p.S111I 1 0.620689655 ENSG00000139352 chr12:102958576-102958576;G/T missense_variant False ASCL3@p.R5K 1 0.26910299 ENSG00000176009 chr11:8938148-8938148;C/T missense_variant False ASF1A@p.E49K 1 0.471428571 ENSG00000111875 chr6:118900801-118900801;G/A missense_variant False ASF1A@p.S59C 1 0.363636364 ENSG00000111875 chr6:118900832-118900832;C/G missense_variant False ASF1B@p.E124K 1 0.137254902 ENSG00000105011 chr19:14121564-14121564;C/T missense_variant False ASGR1@p.G38A 1 0.526785714 ENSG00000141505 chr17:7177284-7177284;C/G missense_variant False ASGR1@p.Q140H 1 0.418604651 ENSG00000141505 chr17:7174396-7174396;C/G missense_variant False ASGR2@p.R30K 1 0.083832335 ENSG00000161944 chr17:7114152-7114152;C/T missense_variant False ASCC1@p.G211R 1 0.161290323 ENSG00000138303 chr10:72161617-72161617;C/T missense_variant False ASB8@p.G200R 1 0.326086957 ENSG00000177981 chr12:48149635-48149635;C/T missense_variant False ASB12@p.F63L 1 0.318181818 ENSG00000198881 chrX:64225462-64225462;G/T missense_variant False ASB16@p.R433G 1 0.318181818 ENSG00000161664 chr17:44178325-44178325;C/G missense_variant False ASB2@p.I509M 1 0.529411765 ENSG00000100628 chr14:93937798-93937798;G/C missense_variant False ASB2@p.E124Q 1 0.2 ENSG00000100628 chr14:93953472-93953472;C/G missense_variant False ASB18@p.D72N 1 0.482142857 ENSG00000182177 chr2:236241394-236241394;C/T missense_variant False ASB17@p.Y79C 1 0.197530864 ENSG00000154007 chr1:75932056-75932056;T/C missense_variant False ASB17@p.Y70H 1 0.153846154 ENSG00000154007 chr1:75932084-75932084;A/G missense_variant False ASB17@p.I185V 1 0.25 ENSG00000154007 chr1:75922208-75922208;T/C missense_variant False ASB15@p.V363I 1 0.454545455 ENSG00000146809 chr7:123629081-123629081;G/A missense_variant False ASB7@p.Q201H 1 0.28 ENSG00000183475 chr15:100629828-100629828;G/C missense_variant False ASB15@p.S461L 1 0.125 ENSG00000146809 chr7:123629376-123629376;C/T missense_variant False ASB15@p.G403A 1 0.268656716 ENSG00000146809 chr7:123629202-123629202;G/C missense_variant False ASB15@p.D235N 1 0.472727273 ENSG00000146809 chr7:123627115-123627115;G/A missense_variant False ASB15@p.C258S 1 0.285714286 ENSG00000146809 chr7:123627184-123627184;T/A missense_variant False ASB14@p.D446H 1 0.358695652 ENSG00000239388 chr3:57278472-57278472;C/G missense_variant False ASB13@p.H149R 1 0.225609756 ENSG00000196372 chr10:5649041-5649041;T/C missense_variant False ASB2@p.S365F 1 0.233333333 ENSG00000100628 chr14:93939487-93939487;G/A missense_variant False ASB3@p.E160K 1 0.268292683 ENSG00000115239 chr2:53728838-53728838;C/T missense_variant False ASB3@p.F80L 1 0.548387097 ENSG00000115239 chr2:53750898-53750898;G/C missense_variant False ASB3@p.S461F 1 0.341463415 ENSG00000115239 chr2:53670678-53670678;G/A missense_variant False ASB3@p.V25Sfs*16 1 0.304 ENSG00000115239 chr2:53765500-53765501;-/T frameshift_variant False ASB3@p.Y500C 1 0.244897959 ENSG00000115239 chr2:53670561-53670561;T/C missense_variant False ASB4@p.A216V 1 0.276595745 ENSG00000005981 chr7:95527972-95527972;C/T missense_variant False ASB4@p.D362N 1 0.274509804 ENSG00000005981 chr7:95536542-95536542;G/A missense_variant False ASB4@p.F21V 1 0.542372881 ENSG00000005981 chr7:95486032-95486032;T/G missense_variant False ASB4@p.G140E 1 0.164705882 ENSG00000005981 chr7:95495989-95495989;G/A missense_variant False ASB4@p.K336E 1 0.485714286 ENSG00000005981 chr7:95536464-95536464;A/G missense_variant False ASB4@p.R129H 1 0.164556962 ENSG00000005981 chr7:95495956-95495956;G/A missense_variant False ASB4@p.V342I 1 0.214285714 ENSG00000005981 chr7:95536482-95536482;G/A missense_variant False ASB5@p.G113A 1 0.5 ENSG00000164122 chr4:176222359-176222359;C/G missense_variant False ASB6@p.E57K 1 0.387096774 ENSG00000148331 chr9:129640667-129640667;C/T missense_variant False ASB6@p.E98Q 1 0.5 ENSG00000148331 chr9:129640544-129640544;C/G missense_variant False ASB6@p.Q338E 1 0.14084507 ENSG00000148331 chr9:129638044-129638044;G/C missense_variant False ARSH@p.I69M 1 0.333333333 ENSG00000205667 chrX:3010144-3010144;C/G missense_variant False ARSH@p.F320L 1 0.184615385 ENSG00000205667 chrX:3024079-3024079;C/A missense_variant False ARSG@p.Q334H 1 0.219512195 ENSG00000141337 chr17:68385083-68385083;G/C missense_variant False ARMCX5@p.L264F 1 0.404040404 ENSG00000125962 chrX:102602933-102602933;G/C missense_variant False ARMH4@p.D48Y 1 0.365591398 ENSG00000139971 chr14:58139217-58139217;C/A missense_variant False ARMH3@p.F130Lfs*19 1 0.125 ENSG00000120029 chr10:102029646-102029662;ACAGCTCCGCCTTGTCA/- frameshift_variant False ARMH3@p.E652K 1 0.120481928 ENSG00000120029 chr10:101849799-101849799;C/T missense_variant False ARMCX6@p.G91E 1 0.467741935 ENSG00000198960 chrX:101616349-101616349;C/T missense_variant False ARMCX6@p.E71K 1 0.30952381 ENSG00000198960 chrX:101616410-101616410;C/T missense_variant False ARMCX5@p.V182I 1 0.216666667 ENSG00000125962 chrX:102602685-102602685;G/A missense_variant False ARMCX5@p.E167K 1 0.295454545 ENSG00000125962 chrX:102602640-102602640;G/A missense_variant False ARMCX2@p.M496I 1 0.08 ENSG00000184867 chrX:101656101-101656101;C/A missense_variant False ARMCX5-GPRASP2@p.E95Q 1 0.260273973 ENSG00000286237 chrX:102749278-102749278;G/C missense_variant False ARMCX5-GPRASP2@p.E57K 1 0.118181818 ENSG00000286237 chrX:102749164-102749164;G/A missense_variant False ARMCX5-GPRASP2@p.D138N 1 0.523809524 ENSG00000286237 chrX:102749407-102749407;G/A missense_variant False ARMCX3@p.S67R 1 0.102941176 ENSG00000102401 chrX:101625180-101625180;C/A missense_variant False ARMCX3@p.S219F 1 0.2 ENSG00000102401 chrX:101625635-101625635;C/T missense_variant False ARMCX2@p.R31K 1 0.404761905 ENSG00000184867 chrX:101657497-101657497;C/T missense_variant False ARMH4@p.E162K 1 0.217391304 ENSG00000139971 chr14:58138875-58138875;C/T missense_variant False ARMH4@p.E295D 1 0.378151261 ENSG00000139971 chr14:58138474-58138474;T/G missense_variant False ARMH4@p.E614Q 1 0.526315789 ENSG00000139971 chr14:58096973-58096973;C/G missense_variant False ARMH4@p.E688K 1 0.24137931 ENSG00000139971 chr14:58096751-58096751;C/T missense_variant False ARMH4@p.F433L 1 0.126126126 ENSG00000139971 chr14:58138060-58138060;G/C missense_variant False ARMH4@p.S308C 1 0.513513514 ENSG00000139971 chr14:58138436-58138436;G/C missense_variant False ARMH4@p.S439C 1 0.488095238 ENSG00000139971 chr14:58138043-58138043;G/C missense_variant False ARMT1@p.E117Q 1 0.5 ENSG00000146476 chr6:151458529-151458529;G/C missense_variant False ARMT1@p.G150E 1 0.803278689 ENSG00000146476 chr6:151464509-151464509;G/A missense_variant False ARNT2@p.A127T 1 0.1875 ENSG00000172379 chr15:80470402-80470402;G/A missense_variant False ARNT2@p.D344G 1 0.623376623 ENSG00000172379 chr15:80552716-80552716;A/G missense_variant False ARNT2@p.D549N 1 0.2 ENSG00000172379 chr15:80580442-80580442;G/A missense_variant False ARNT2@p.E193K 1 0.227848101 ENSG00000172379 chr15:80475178-80475178;G/A missense_variant False ARNT2@p.L366V 1 0.668571429 ENSG00000172379 chr15:80555071-80555071;C/G missense_variant False ARNT2@p.M294I 1 0.36036036 ENSG00000172379 chr15:80551203-80551203;G/A missense_variant False ARNT2@p.S654L 1 0.313432836 ENSG00000172379 chr15:80591610-80591610;C/T missense_variant False ARNT2@p.T575A 1 0.629032258 ENSG00000172379 chr15:80580520-80580520;A/G missense_variant False ARMCX2@p.Q108H 1 0.170212766 ENSG00000184867 chrX:101657265-101657265;C/G missense_variant False ARMCX2@p.G124E 1 0.339622642 ENSG00000184867 chrX:101657218-101657218;C/T missense_variant False ARNT@p.D64G 1 0.298245614 ENSG00000143437 chr1:150846299-150846299;T/C missense_variant False ARMC5@p.R334C 1 0.124223602 ENSG00000140691 chr16:31462547-31462547;C/T missense_variant False ARMC6@p.E458K 1 0.266666667 ENSG00000105676 chr19:19057494-19057494;G/A missense_variant False ARMC6@p.D193N 1 0.181818182 ENSG00000105676 chr19:19051919-19051919;G/A missense_variant False ARMC6@p.A245V 1 0.096153846 ENSG00000105676 chr19:19052076-19052076;C/T missense_variant False ARMC5@p.S291F 1 0.12195122 ENSG00000140691 chr16:31462419-31462419;C/T missense_variant False ARMC5@p.S13L 1 0.25 ENSG00000140691 chr16:31459562-31459562;C/T missense_variant False ARMC5@p.R609C 1 0.571428571 ENSG00000140691 chr16:31464848-31464848;C/T missense_variant False ARMC5@p.E581A 1 0.272727273 ENSG00000140691 chr16:31464765-31464765;A/C missense_variant False ARMCX2@p.E575Q 1 0.285714286 ENSG00000184867 chrX:101655866-101655866;C/G missense_variant False ARMC4@p.T78R 1 0.264705882 None chr10:27987535-27987535;G/C missense_variant False ARMC4@p.P651A 1 0.409836066 None chr10:27940598-27940598;G/C missense_variant False ARMC4@p.G922V 1 0.5 None chr10:27862468-27862468;C/A missense_variant False ARMC4@p.E224Q 1 0.058201058 None chr10:27984196-27984196;C/G missense_variant False ARMC4@p.A903T 1 0.223076923 None chr10:27862526-27862526;C/T missense_variant False ARMC4@p.A560S 1 0.476190476 None chr10:27944287-27944287;C/A missense_variant False ARMC6@p.Q133H 1 0.391752577 ENSG00000105676 chr19:19051741-19051741;G/C missense_variant False ARMC6@p.Q495H 1 0.166666667 ENSG00000105676 chr19:19057607-19057607;G/C missense_variant False ARMC7@p.E71K 1 0.675 ENSG00000125449 chr17:75110582-75110582;G/A missense_variant False ARMC7@p.S183C 1 0.147058824 ENSG00000125449 chr17:75128989-75128989;C/G missense_variant False ARMC8@p.E82K 1 0.289473684 ENSG00000114098 chr3:138223438-138223438;G/A missense_variant False ARMC8@p.R542C 1 0.344262295 ENSG00000114098 chr3:138273111-138273111;C/T missense_variant False ARMC8@p.V222A 1 0.046875 ENSG00000114098 chr3:138237364-138237364;T/C missense_variant False ARMC9@p.D237N 1 0.20754717 ENSG00000135931 chr2:231235310-231235310;G/A missense_variant False ARMC9@p.D469N 1 0.225663717 ENSG00000135931 chr2:231276706-231276706;G/A missense_variant False ARMC9@p.E477K 1 0.206185567 ENSG00000135931 chr2:231276730-231276730;G/A missense_variant False ARMC9@p.E514K 1 0.090909091 ENSG00000135931 chr2:231278447-231278447;G/A missense_variant False ARMC9@p.R536C 1 0.226415094 ENSG00000135931 chr2:231282113-231282113;C/T missense_variant False ARMCX1@p.D200N 1 0.735135135 ENSG00000126947 chrX:101553528-101553528;G/A missense_variant False ARMCX1@p.I201T 1 0.911111111 ENSG00000126947 chrX:101553532-101553532;T/C missense_variant False ARMCX1@p.V10M 1 0.169014085 ENSG00000126947 chrX:101552958-101552958;G/A missense_variant False ARMCX1@p.W38S 1 0.256410256 ENSG00000126947 chrX:101553043-101553043;G/C missense_variant False ARMCX2@p.E357K 1 0.444444444 ENSG00000184867 chrX:101656520-101656520;C/T missense_variant False ARNT@p.D546G 1 0.263157895 ENSG00000143437 chr1:150817144-150817144;T/C missense_variant False ARNT@p.G571R 1 0.333333333 ENSG00000143437 chr1:150816879-150816879;C/G missense_variant False ARSG@p.N303D 1 0.270833333 ENSG00000141337 chr17:68370449-68370449;A/G missense_variant False ARRDC3@p.E215Q 1 0.083333333 ENSG00000113369 chr5:91375149-91375149;C/G missense_variant False ARRDC5@p.G39W 1 0.114285714 ENSG00000205784 chr19:4902753-4902753;C/A missense_variant False ARRDC4@p.S399L 1 0.106382979 ENSG00000140450 chr15:97970739-97970739;C/T missense_variant False ARRDC3@p.Y349C 1 0.590909091 ENSG00000113369 chr5:91373826-91373826;T/C missense_variant False ARRDC3@p.S98F 1 0.419354839 ENSG00000113369 chr5:91378763-91378763;G/A missense_variant False ARRDC3@p.M240I 1 0.126126126 ENSG00000113369 chr5:91375072-91375072;C/A missense_variant False ARRDC3@p.E80Q 1 0.547169811 ENSG00000113369 chr5:91382855-91382855;C/G missense_variant False ARRDC3@p.D96N 1 0.6 ENSG00000113369 chr5:91378770-91378770;C/T missense_variant False ARRB1@p.F9L 1 0.106796117 ENSG00000137486 chr11:75290033-75290033;G/T missense_variant False ARRDC2@p.E350K 1 0.117647059 ENSG00000105643 chr19:18010607-18010607;G/A missense_variant False ARRDC1@p.K337N 1 0.074074074 ENSG00000197070 chr9:137614774-137614774;G/C missense_variant False ARRDC1@p.I132M 1 0.398734177 ENSG00000197070 chr9:137613730-137613730;C/G missense_variant False ARRB2@p.P90S 1 0.413793103 ENSG00000141480 chr17:4716519-4716519;C/T missense_variant False ARRB1@p.R393C 1 0.150753769 ENSG00000137486 chr11:75266243-75266243;G/A missense_variant False ARRB1@p.N281K 1 0.172839506 ENSG00000137486 chr11:75274145-75274145;G/C missense_variant False ARRDC5@p.R244W 1 0.459459459 ENSG00000205784 chr19:4891345-4891345;G/A missense_variant False ARSA@p.C163Y 1 0.25 ENSG00000100299 chr22:50627030-50627030;C/T missense_variant False ARSA@p.D409N 1 0.548192771 ENSG00000100299 chr22:50625450-50625450;C/T missense_variant False ARSA@p.E133K 1 0.5 ENSG00000100299 chr22:50627234-50627234;C/T missense_variant False ARSB@p.F451L 1 0.5 ENSG00000113273 chr5:78780646-78780646;G/T missense_variant False ARSB@p.G205E 1 0.12 ENSG00000113273 chr5:78964492-78964492;C/T missense_variant False ARSB@p.L187V 1 0.268292683 ENSG00000113273 chr5:78964547-78964547;G/C missense_variant False ARSB@p.N84S 1 0.421052632 ENSG00000113273 chr5:78984998-78984998;T/C missense_variant False ARSB@p.S211L 1 0.301886792 ENSG00000113273 chr5:78964474-78964474;G/A missense_variant False ARSD@p.G405V 1 0.146067416 ENSG00000006756 chrX:2909901-2909901;C/A missense_variant False ARSD@p.H453R 1 0.733333333 ENSG00000006756 chrX:2908783-2908783;T/C missense_variant False ARSD@p.V540M 1 0.285714286 ENSG00000006756 chrX:2907435-2907435;C/T missense_variant False ARSD@p.W118C 1 0.297297297 ENSG00000006756 chrX:2920686-2920686;C/A missense_variant False ARSF@p.G164S 1 0.826086957 ENSG00000062096 chrX:3084326-3084326;G/A missense_variant False ARSF@p.L169V 1 0.356164384 ENSG00000062096 chrX:3084341-3084341;C/G missense_variant False ARSF@p.S213C 1 0.305555556 ENSG00000062096 chrX:3084474-3084474;C/G missense_variant False ARSG@p.E205K 1 0.489795918 ENSG00000141337 chr17:68356713-68356713;G/A missense_variant False ARRB1@p.I317M 1 0.230769231 ENSG00000137486 chr11:75272942-75272942;G/C missense_variant False ARR3@p.S327C 1 0.090909091 ENSG00000120500 chrX:70280269-70280269;C/G missense_variant False ARNT@p.H401Y 1 0.709923664 ENSG00000143437 chr1:150826584-150826584;G/A missense_variant False ARNTL2@p.R15T 1 0.202898551 None chr12:27368274-27368274;G/C missense_variant False ARPC2@p.R189C 1 0.301587302 ENSG00000163466 chr2:218245435-218245435;C/T missense_variant False ARPC2@p.L207V 1 0.100840336 ENSG00000163466 chr2:218245489-218245489;C/G missense_variant False ARNTL@p.Y376S 1 0.361111111 None chr11:13374154-13374154;A/C missense_variant False ARNTL@p.G511E 1 0.112903226 None chr11:13381169-13381169;G/A missense_variant False ARNTL@p.G491R 1 0.416666667 None chr11:13378393-13378393;G/A missense_variant False ARNTL2@p.S292Y 1 0.23255814 None chr12:27390195-27390195;C/A missense_variant False ARNTL2@p.P77S 1 0.144 None chr12:27370175-27370175;C/T missense_variant False ARPP21@p.S161Y 1 0.513513514 ENSG00000172995 chr3:35689382-35689382;C/A missense_variant False ARNTL2@p.F437L 1 0.062015504 None chr12:27401567-27401567;C/G missense_variant False ARNTL2@p.E191Q 1 0.290322581 None chr12:27387234-27387234;G/C missense_variant False ARNT@p.S443C 1 0.218309859 ENSG00000143437 chr1:150823260-150823260;G/C missense_variant False ARNT@p.S26C 1 0.555555556 ENSG00000143437 chr1:150858409-150858409;G/C missense_variant False ARNT@p.S141F 1 0.25 ENSG00000143437 chr1:150839505-150839505;G/A missense_variant False ARNT@p.K417R 1 0.445783133 ENSG00000143437 chr1:150823338-150823338;T/C missense_variant False ARPC2@p.R230C 1 0.272727273 ENSG00000163466 chr2:218249375-218249375;C/T missense_variant False ARPC4@p.E45Q 1 0.208333333 ENSG00000241553 chr3:9800195-9800195;G/C missense_variant False ARPC4@p.I114M 1 0.347305389 ENSG00000241553 chr3:9803854-9803854;C/G missense_variant False ARPC4@p.K144N 1 0.1 ENSG00000241553 chr3:9803944-9803944;G/C missense_variant False ARPC5@p.D90H 1 0.483870968 ENSG00000162704 chr1:183630586-183630586;C/G missense_variant False ARPC5@p.E130K 1 0.185714286 ENSG00000162704 chr1:183630466-183630466;C/T missense_variant False ARPC5@p.L106I 1 0.202531646 ENSG00000162704 chr1:183630538-183630538;G/T missense_variant False ARPC5@p.S2L 1 0.166666667 ENSG00000162704 chr1:183635655-183635655;G/A missense_variant False ARPP19@p.K42Nfs*20 1 0.204545455 ENSG00000128989 chr15:52557142-52557143;-/A frameshift_variant False ARPP19@p.M72L 1 0.368421053 ENSG00000128989 chr15:52552059-52552059;T/G missense_variant False ARPP21@p.E3Q 1 0.25 ENSG00000172995 chr3:35681758-35681758;G/C missense_variant False ARPP21@p.G437V 1 0.121212121 ENSG00000172995 chr3:35729387-35729387;G/T missense_variant False ARPP21@p.H91N 1 0.118110236 ENSG00000172995 chr3:35687748-35687748;C/A missense_variant False ARPP21@p.L167R 1 0.264705882 ENSG00000172995 chr3:35690095-35690095;T/G missense_variant False ARPP21@p.P698S 1 0.359550562 ENSG00000172995 chr3:35792441-35792441;C/T missense_variant False ARPP21@p.Q774E 1 0.318181818 ENSG00000172995 chr3:35793839-35793839;C/G missense_variant False ARPP21@p.R284T 1 0.166666667 ENSG00000172995 chr3:35709024-35709024;G/C missense_variant False ATP1A2@p.A710G 1 0.329787234 ENSG00000018625 chr1:160135447-160135447;C/G missense_variant False ATP1A2@p.D999G 1 0.18125 ENSG00000018625 chr1:160139946-160139946;A/G missense_variant False ATP1A2@p.I204M 1 0.208333333 ENSG00000018625 chr1:160124412-160124412;C/G missense_variant False BBS9@p.L14V 1 0.25308642 ENSG00000122507 chr7:33146292-33146292;C/G missense_variant False BBX@p.D690H 1 0.361445783 ENSG00000114439 chr3:107778384-107778384;G/C missense_variant False BBS9@p.R674W 1 0.393333333 ENSG00000122507 chr7:33388049-33388049;C/T missense_variant False BBS9@p.Q764K 1 0.228571429 ENSG00000122507 chr7:33505637-33505637;C/A missense_variant False BBS9@p.P537L 1 0.193103448 ENSG00000122507 chr7:33357912-33357912;C/T missense_variant False BBS9@p.M385I 1 0.114285714 ENSG00000122507 chr7:33336579-33336579;G/A missense_variant False BBS9@p.L562F 1 0.567567568 ENSG00000122507 chr7:33357986-33357986;C/T missense_variant False BBS9@p.K594Q 1 0.196969697 ENSG00000122507 chr7:33367853-33367853;A/C missense_variant False BBX@p.E626Q 1 0.153846154 ENSG00000114439 chr3:107773597-107773597;G/C missense_variant False BBS9@p.H129R 1 0.476190476 ENSG00000122507 chr7:33177535-33177535;A/G missense_variant False BBS9@p.E873K 1 0.421052632 ENSG00000122507 chr7:33604960-33604960;G/A missense_variant False BBS9@p.E852K 1 0.363636364 ENSG00000122507 chr7:33604897-33604897;G/A missense_variant False BBS7@p.S424F 1 0.346153846 ENSG00000138686 chr4:121843961-121843961;G/A missense_variant False BBS7@p.S143F 1 0.182926829 ENSG00000138686 chr4:121859092-121859092;G/A missense_variant False BBS7@p.Q99L 1 0.197674419 ENSG00000138686 chr4:121861549-121861549;T/A missense_variant False BBX@p.E549Q 1 0.090909091 ENSG00000114439 chr3:107773366-107773366;G/C missense_variant False BBX@p.K864E 1 0.419753086 ENSG00000114439 chr3:107801133-107801133;A/G missense_variant False BCL9@p.L686_P688del 1 0.431818182 ENSG00000116128 chr1:147620208-147620216;CCTCTGAGT/- inframe_deletion False BCAN@p.V381I 1 0.426666667 ENSG00000132692 chr1:156651533-156651533;G/A missense_variant False BCAR3@p.H590Q 1 0.128205128 ENSG00000137936 chr1:93576046-93576046;G/C missense_variant False BCAR1@p.G527R 1 0.71641791 ENSG00000050820 chr16:75235320-75235320;C/G missense_variant False BCAR1@p.D534N 1 0.442105263 ENSG00000050820 chr16:75235299-75235299;C/T missense_variant False BCAR1@p.D401Wfs*67 1 0.340425532 ENSG00000050820 chr16:75235690-75235699;GCCACCATCA/- frameshift_variant False BCAR1@p.A185S 1 0.126315789 ENSG00000050820 chr16:75242550-75242550;C/A missense_variant False BCAP31@p.L103V 1 0.639175258 ENSG00000185825 chrX:153715576-153715576;G/C missense_variant False BCAN@p.S360F 1 0.118421053 ENSG00000132692 chr1:156651471-156651471;C/T missense_variant False BBX@p.S96F 1 0.619047619 ENSG00000114439 chr3:107716731-107716731;C/T missense_variant False BCAN@p.R36C 1 0.447368421 ENSG00000132692 chr1:156646815-156646815;C/T missense_variant False BCAN@p.K330N 1 0.083601286 ENSG00000132692 chr1:156648788-156648788;G/C missense_variant False BCAN@p.D204H 1 0.118012422 ENSG00000132692 chr1:156647651-156647651;G/C missense_variant False BCAM@p.E309K 1 0.303030303 ENSG00000187244 chr19:44814607-44814607;G/A missense_variant False BCAM@p.A238P 1 0.320754717 ENSG00000187244 chr19:44813548-44813548;G/C missense_variant False BBX@p.W28S 1 0.131578947 ENSG00000114439 chr3:107710543-107710543;G/C missense_variant False BBS7@p.I397M 1 0.56097561 ENSG00000138686 chr4:121845543-121845543;G/C missense_variant False BBS7@p.I342N 1 0.414893617 ENSG00000138686 chr4:121847416-121847416;A/T missense_variant False BBS7@p.E668K 1 0.08411215 ENSG00000138686 chr4:121828158-121828158;C/T missense_variant False BBOF1@p.E305K 1 0.228571429 ENSG00000119636 chr14:74049822-74049822;G/A missense_variant False BBS10@p.D216N 1 0.829268293 ENSG00000179941 chr12:76347339-76347339;C/T missense_variant False BBOX1@p.G154A 1 0.427419355 ENSG00000129151 chr11:27093294-27093294;G/C missense_variant False BBOX1@p.E384K 1 0.263157895 ENSG00000129151 chr11:27127439-27127439;G/A missense_variant False BBOX1@p.D157E 1 0.215686275 ENSG00000129151 chr11:27093304-27093304;C/A missense_variant False BBOF1@p.L335V 1 0.269230769 ENSG00000119636 chr14:74049912-74049912;C/G missense_variant False BBOF1@p.K62R 1 0.235294118 ENSG00000119636 chr14:74023044-74023044;A/G missense_variant False BBOF1@p.E26K 1 0.333333333 ENSG00000119636 chr14:74022935-74022935;G/A missense_variant False BBS5@p.D291H 1 0.3 ENSG00000163093 chr2:169503149-169503149;G/C missense_variant False BBC3@p.E203Q 1 0.184210526 ENSG00000105327 chr19:47221880-47221880;C/G missense_variant False BAZ2B@p.V1833A 1 0.108695652 ENSG00000226266 chr2:159337729-159337729;A/G missense_variant False BAZ2B@p.T2109A 1 0.222222222 ENSG00000226266 chr2:159324839-159324839;T/C missense_variant False BAZ2B@p.S187C 1 0.269230769 ENSG00000226266 chr2:159446918-159446918;G/C missense_variant False BAZ2B@p.S1643C 1 0.202702703 ENSG00000226266 chr2:159349216-159349216;G/C missense_variant False BAZ2B@p.R2036T 1 0.171717172 ENSG00000226266 chr2:159325755-159325755;C/G missense_variant False BBS10@p.D459H 1 0.472222222 ENSG00000179941 chr12:76346610-76346610;C/G missense_variant False BBS10@p.E61Q 1 0.364864865 ENSG00000179941 chr12:76348178-76348178;C/G missense_variant False BBS10@p.G650V 1 0.564356436 ENSG00000179941 chr12:76346036-76346036;C/A missense_variant False BBS10@p.Q284H 1 0.447368421 ENSG00000179941 chr12:76347133-76347133;C/G missense_variant False BBS10@p.Q470E 1 0.267857143 ENSG00000179941 chr12:76346577-76346577;G/C missense_variant False BBS12@p.E151K 1 0.196261682 ENSG00000181004 chr4:122742343-122742343;G/A missense_variant False BBS12@p.R431Q 1 0.53 ENSG00000181004 chr4:122743184-122743184;G/A missense_variant False BBS12@p.R646I 1 0.519230769 ENSG00000181004 chr4:122743829-122743829;G/T missense_variant False BBS12@p.T167I 1 0.338028169 ENSG00000181004 chr4:122742392-122742392;C/T missense_variant False BBS12@p.W95C 1 0.066666667 ENSG00000181004 chr4:122742177-122742177;G/C missense_variant False BBS1@p.E15K 1 0.217391304 ENSG00000174483 chr11:66510702-66510702;G/A missense_variant False BBS2@p.A32E 1 0.1 ENSG00000125124 chr16:56519768-56519768;G/T missense_variant False BBS2@p.D566N 1 0.416666667 ENSG00000125124 chr16:56497844-56497844;C/T missense_variant False BBS2@p.F535L 1 0.305555556 ENSG00000125124 chr16:56498491-56498491;G/C missense_variant False BBS2@p.R480G 1 0.359375 ENSG00000125124 chr16:56499867-56499867;G/C missense_variant False BBS2@p.R48Q 1 0.25 ENSG00000125124 chr16:56514655-56514655;C/T missense_variant False BBS4@p.I55M 1 0.181818182 ENSG00000140463 chr15:72712252-72712252;C/G missense_variant False BCAR3@p.L786F 1 0.503144654 ENSG00000137936 chr1:93562361-93562361;C/G missense_variant False BCAR3@p.S448L 1 0.323529412 ENSG00000137936 chr1:93582644-93582644;G/A missense_variant False BCAS1@p.E65Q 1 0.892857143 ENSG00000064787 chr20:54028922-54028922;C/G missense_variant False BCL11B@p.R446W 1 0.135135135 ENSG00000127152 chr14:99175500-99175500;G/A missense_variant False BCL2L13@p.E250Q 1 0.132352941 ENSG00000099968 chr22:17726824-17726824;G/C missense_variant False BCL2L13@p.E219K 1 0.234375 ENSG00000099968 chr22:17726731-17726731;G/A missense_variant False BCL2L12@p.E183K 1 0.541353383 ENSG00000126453 chr19:49668895-49668895;G/A missense_variant False BCL2L11@p.E51K 1 0.413333333 ENSG00000153094 chr2:111123896-111123896;G/A missense_variant False BCL2L10@p.W179C 1 0.373626374 ENSG00000137875 chr15:52109926-52109926;C/A missense_variant False BCL2A1@p.M127I 1 0.209677419 ENSG00000140379 chr15:79970739-79970739;C/T missense_variant False BCL11B@p.I248M 1 0.736842105 ENSG00000127152 chr14:99176092-99176092;G/C missense_variant False BCL10@p.L72F 1 0.429752066 ENSG00000142867 chr1:85270748-85270748;T/G missense_variant False BCL11B@p.G820C 1 0.216216216 ENSG00000127152 chr14:99174378-99174378;C/A missense_variant False BCL11B@p.G68E 1 0.671875 ENSG00000127152 chr14:99257695-99257695;C/T missense_variant False BCL11A@p.S555L 1 0.382352941 ENSG00000119866 chr2:60461146-60461146;G/A missense_variant False BCL11A@p.R3G 1 0.169230769 ENSG00000119866 chr2:60553264-60553264;G/C missense_variant False BCL11A@p.P638S 1 0.6 ENSG00000119866 chr2:60460898-60460898;G/A missense_variant False BCL11A@p.E252G 1 0.235849057 ENSG00000119866 chr2:60462055-60462055;T/C missense_variant False BCL2L13@p.E321K 1 0.148148148 ENSG00000099968 chr22:17727037-17727037;G/A missense_variant False BCL2L13@p.E438K 1 0.092105263 ENSG00000099968 chr22:17727388-17727388;G/A missense_variant False BCL2L13@p.Q162P 1 0.183760684 ENSG00000099968 chr22:17702271-17702271;A/C missense_variant False BCL2L14@p.S200C 1 0.222222222 ENSG00000121380 chr12:12087378-12087378;C/G missense_variant False BCL2L15@p.G132E 1 0.436363636 ENSG00000188761 chr1:113881852-113881852;C/T missense_variant False BCL2L1@p.E98K 1 0.160714286 ENSG00000171552 chr20:31721927-31721927;C/T missense_variant False BCL2L2-PABPN1@p.S360L 1 0.337349398 ENSG00000258643 chr14:23325267-23325267;C/T missense_variant False BCL3@p.H140Y 1 0.366666667 ENSG00000069399 chr19:44756239-44756239;C/T missense_variant False BCL6@p.L184Hfs*22 1 0.088435374 ENSG00000113916 chr3:187729838-187729854;GGACAGGCCACTGTACA/- frameshift_variant False BCL6@p.R406Q 1 0.106666667 ENSG00000113916 chr3:187729188-187729188;C/T missense_variant False BCL6B@p.A10P 1 0.4 ENSG00000161940 chr17:7023699-7023699;G/C missense_variant False BCL6B@p.E85K 1 0.649253731 ENSG00000161940 chr17:7024156-7024156;G/A missense_variant False BCL7A@p.L178V 1 0.153846154 ENSG00000110987 chr12:122054897-122054897;C/G missense_variant False BCL7B@p.A124E 1 0.084745763 ENSG00000106635 chr7:73539947-73539947;G/T missense_variant False BCL9@p.D396N 1 0.057324841 ENSG00000116128 chr1:147619341-147619341;G/A missense_variant False BCL9@p.E346D 1 0.300380228 ENSG00000116128 chr1:147619193-147619193;G/C missense_variant False BCL9@p.G320E 1 0.061403509 ENSG00000116128 chr1:147619114-147619114;G/A missense_variant False BCL11A@p.A80G 1 0.408602151 ENSG00000119866 chr2:60546117-60546117;G/C missense_variant False BCL10@p.F143L 1 0.350364964 ENSG00000142867 chr1:85267900-85267900;G/T missense_variant False BCAS1@p.F193I 1 0.397905759 ENSG00000064787 chr20:54028538-54028538;A/T missense_variant False BCAS3@p.E624K 1 0.422413793 ENSG00000141376 chr17:61037951-61037951;G/A missense_variant False BCAT1@p.D239H 1 0.090909091 ENSG00000060982 chr12:24842184-24842184;C/G missense_variant False BCAS3@p.S712F 1 0.368181818 ENSG00000141376 chr17:61074980-61074980;C/T missense_variant False BCAS3@p.M626I 1 0.120418848 ENSG00000141376 chr17:61037959-61037959;G/A missense_variant False BCAS3@p.M455V 1 0.298245614 ENSG00000141376 chr17:60990112-60990112;A/G missense_variant False BCAS3@p.I584M 1 0.072463768 ENSG00000141376 chr17:61034735-61034735;C/G missense_variant False BCAS3@p.H350Q 1 0.072072072 ENSG00000141376 chr17:60924463-60924463;T/A missense_variant False BCAS3@p.E351D 1 0.285714286 ENSG00000141376 chr17:60924466-60924466;G/T missense_variant False BCKDHB@p.R111Q 1 0.4875 ENSG00000083123 chr6:80129218-80129218;G/A missense_variant False BCAS2@p.E194K 1 0.198019802 ENSG00000116752 chr1:114568228-114568228;C/T missense_variant False BCAS2@p.E122Q 1 0.16025641 ENSG00000116752 chr1:114575645-114575645;C/G missense_variant False BCAS2@p.E105Q 1 0.165562914 ENSG00000116752 chr1:114575696-114575696;C/G missense_variant False BCAS1@p.T153S 1 0.457831325 ENSG00000064787 chr20:54028658-54028658;T/A missense_variant False BCAS1@p.S100C 1 0.127659574 ENSG00000064787 chr20:54028816-54028816;G/C missense_variant False BCAS1@p.P185S 1 0.130434783 ENSG00000064787 chr20:54028562-54028562;G/A missense_variant False BCAT1@p.R163C 1 0.483333333 ENSG00000060982 chr12:24878553-24878553;G/A missense_variant False BCAT2@p.D278H 1 0.526315789 ENSG00000105552 chr19:48797197-48797197;C/G missense_variant False BCAT2@p.F108L 1 0.2 ENSG00000105552 chr19:48800274-48800274;G/C missense_variant False BCAT2@p.R126W 1 0.295774648 ENSG00000105552 chr19:48800222-48800222;G/A missense_variant False BCCIP@p.C153Y 1 0.134146341 ENSG00000107949 chr10:125831466-125831466;G/A missense_variant False BCCIP@p.D41N 1 0.358024691 ENSG00000107949 chr10:125823678-125823678;G/A missense_variant False BCDIN3D@p.E120K 1 0.253164557 ENSG00000186666 chr12:49838892-49838892;C/T missense_variant False BCDIN3D@p.G74E 1 0.306451613 ENSG00000186666 chr12:49842867-49842867;C/T missense_variant False BCHE@p.E108Q 1 0.611111111 ENSG00000114200 chr3:165830712-165830712;C/G missense_variant False BCHE@p.F549L 1 0.165048544 ENSG00000114200 chr3:165786182-165786182;G/C missense_variant False BCHE@p.G228Efs*34 1 0.411111111 ENSG00000114200 chr3:165830353-165830353;T/- frameshift_variant False BCHE@p.M44I 1 0.090909091 ENSG00000114200 chr3:165830902-165830902;C/T missense_variant False BCHE@p.P191S 1 0.586206897 ENSG00000114200 chr3:165830463-165830463;G/A missense_variant False BCHE@p.P64T 1 0.470588235 ENSG00000114200 chr3:165830844-165830844;G/T missense_variant False BCHE@p.R537K 1 0.428571429 ENSG00000114200 chr3:165786219-165786219;C/T missense_variant False BCHE@p.R577H 1 0.357142857 ENSG00000114200 chr3:165773461-165773461;C/T missense_variant False BCKDHA@p.R35I 1 0.082191781 ENSG00000248098 chr19:41397931-41397931;G/T missense_variant False BAZ2B@p.R2036I 1 0.325581395 ENSG00000226266 chr2:159325755-159325755;C/A missense_variant False BAZ2B@p.R1938Q 1 0.116666667 ENSG00000226266 chr2:159332670-159332670;C/T missense_variant False BAZ2B@p.R1029L 1 0.264150943 ENSG00000226266 chr2:159389475-159389475;C/A missense_variant False BAIAP2L1@p.R192H 1 0.253275109 ENSG00000006453 chr7:98315524-98315524;C/T missense_variant False BAIAP3@p.S426C 1 0.098765432 ENSG00000007516 chr16:1342922-1342922;A/T missense_variant False BAIAP3@p.S228L 1 0.239130435 ENSG00000007516 chr16:1341336-1341336;C/T missense_variant False BAIAP3@p.Q609K 1 0.100840336 ENSG00000007516 chr16:1344661-1344661;C/A missense_variant False BAIAP3@p.L998P 1 0.151515152 ENSG00000007516 chr16:1347609-1347609;T/C missense_variant False BAIAP3@p.I679M 1 0.251497006 ENSG00000007516 chr16:1345091-1345091;C/G missense_variant False BAIAP3@p.E263K 1 0.287671233 ENSG00000007516 chr16:1341440-1341440;G/A missense_variant False BAIAP2L1@p.I510T 1 0.631746032 ENSG00000006453 chr7:98293528-98293528;A/G missense_variant False BAHD1@p.E705Q 1 0.428571429 ENSG00000140320 chr15:40465395-40465395;G/C missense_variant False BAIAP2L1@p.D438G 1 0.64 ENSG00000006453 chr7:98304305-98304305;T/C missense_variant False BAIAP2@p.Y491C 1 0.125 ENSG00000175866 chr17:81106879-81106879;A/G missense_variant False BAIAP2@p.S208C 1 0.542168675 ENSG00000175866 chr17:81100061-81100061;C/G missense_variant False BAIAP2@p.K147N 1 0.22 ENSG00000175866 chr17:81086532-81086532;G/C missense_variant False BAIAP2@p.E65Q 1 0.166666667 ENSG00000175866 chr17:81057943-81057943;G/C missense_variant False BAHD1@p.K777N 1 0.278481013 ENSG00000140320 chr15:40466118-40466118;G/C missense_variant False BAIAP3@p.S44N 1 0.805555556 ENSG00000007516 chr16:1338575-1338575;G/A missense_variant False BAK1@p.L192V 1 0.361702128 ENSG00000030110 chr6:33573865-33573865;G/C missense_variant False BAMBI@p.H129Q 1 0.351351351 ENSG00000095739 chr10:28682005-28682005;T/A missense_variant False BAMBI@p.L73F 1 0.108910891 ENSG00000095739 chr10:28681398-28681398;C/T missense_variant False BAMBI@p.R177Q 1 0.425531915 ENSG00000095739 chr10:28682148-28682148;G/A missense_variant False BAMBI@p.V219I 1 0.214285714 ENSG00000095739 chr10:28682273-28682273;G/A missense_variant False BANF1@p.L50V 1 0.481927711 ENSG00000175334 chr11:66003650-66003650;C/G missense_variant False BANK1@p.E318K 1 0.064935065 ENSG00000153064 chr4:101895353-101895353;G/A missense_variant False BANK1@p.E451Q 1 0.098591549 ENSG00000153064 chr4:102025266-102025266;G/C missense_variant False BANK1@p.L698V 1 0.065789474 ENSG00000153064 chr4:102060333-102060333;C/G missense_variant False BANK1@p.R68W 1 0.328358209 ENSG00000153064 chr4:101829939-101829939;C/T missense_variant False BANK1@p.S480C 1 0.2 ENSG00000153064 chr4:102025354-102025354;C/G missense_variant False BANP@p.S186C 1 0.122699387 ENSG00000172530 chr16:88006191-88006191;C/G missense_variant False BANP@p.S19T 1 0.354166667 ENSG00000172530 chr16:87975171-87975171;G/C missense_variant False BAP1@p.A140T 1 0.346153846 ENSG00000163930 chr3:52407418-52407418;C/T missense_variant True BAP1@p.D184A 1 0.456140351 ENSG00000163930 chr3:52407203-52407203;T/G missense_variant True BAP1@p.D225H 1 0.571428571 ENSG00000163930 chr3:52406363-52406363;C/G missense_variant True BAHD1@p.G46S 1 0.159574468 ENSG00000140320 chr15:40458600-40458600;G/A missense_variant False BAHD1@p.E657K 1 0.5 ENSG00000140320 chr15:40464014-40464014;G/A missense_variant False BAP1@p.D663N 1 0.241935484 ENSG00000163930 chr3:52402671-52402671;C/T missense_variant True BACH2@p.D828N 1 0.084468665 ENSG00000112182 chr6:89932452-89932452;C/T missense_variant False BACH2@p.N244I 1 0.085227273 ENSG00000112182 chr6:89951375-89951375;T/A missense_variant False BACH2@p.M699R 1 0.234042553 ENSG00000112182 chr6:89932838-89932838;A/C missense_variant False BACH2@p.E80K 1 0.1 ENSG00000112182 chr6:90008607-90008607;C/T missense_variant False BACH2@p.E686Q 1 0.556962025 ENSG00000112182 chr6:89932878-89932878;C/G missense_variant False BACH2@p.E677K 1 0.173410405 ENSG00000112182 chr6:89938158-89938158;C/T missense_variant False BACH2@p.E166K 1 0.572649573 ENSG00000112182 chr6:89951610-89951610;C/T missense_variant False BACH2@p.A196D 1 0.473214286 ENSG00000112182 chr6:89951519-89951519;G/T missense_variant False BAHCC1@p.S499F 1 0.382352941 ENSG00000266074 chr17:81442845-81442845;C/T missense_variant False BACH1@p.S642L 1 0.230263158 ENSG00000156273 chr21:29342547-29342547;C/T missense_variant False BACH1@p.Q542E 1 0.181818182 ENSG00000156273 chr21:29329541-29329541;C/G missense_variant False BACH1@p.D674N 1 0.105263158 ENSG00000156273 chr21:29342642-29342642;G/A missense_variant False BACE2@p.E465K 1 0.193548387 ENSG00000182240 chr21:41275460-41275460;G/A missense_variant False BACE2@p.D58N 1 0.454545455 ENSG00000182240 chr21:41168435-41168435;G/A missense_variant False BACE2@p.D58E 1 0.4 ENSG00000182240 chr21:41168437-41168437;C/G missense_variant False BACH2@p.Q661Sfs*14 1 0.455357143 ENSG00000112182 chr6:89938206-89938206;G/- frameshift_variant False BACH2@p.T515A 1 0.409090909 ENSG00000112182 chr6:89950563-89950563;T/C missense_variant False BAG1@p.D275N 1 0.265957447 ENSG00000107262 chr9:33256863-33256863;C/T missense_variant False BAG1@p.S338F 1 0.347826087 ENSG00000107262 chr9:33255244-33255244;G/A missense_variant False BAG2@p.D23N 1 0.4 ENSG00000112208 chr6:57172764-57172764;G/A missense_variant False BAG3@p.G25E 1 0.35 ENSG00000151929 chr10:119651749-119651749;G/A missense_variant False BAG4@p.P266T 1 0.127272727 ENSG00000156735 chr8:38209175-38209175;C/A missense_variant False BAG5@p.E24Q 1 0.432835821 ENSG00000166170 chr14:103561095-103561095;C/G missense_variant False BAG5@p.E309K 1 0.235294118 ENSG00000166170 chr14:103560240-103560240;C/T missense_variant False BAG5@p.E81Q 1 0.207142857 ENSG00000166170 chr14:103560924-103560924;C/G missense_variant False BAG5@p.R239K 1 0.132075472 ENSG00000166170 chr14:103560449-103560449;C/T missense_variant False BAG6@p.E231Q 1 0.402298851 ENSG00000204463 chr6:31647688-31647688;C/G missense_variant False BAG6@p.H478Y 1 0.130434783 ENSG00000204463 chr6:31644540-31644540;G/A missense_variant False BAG6@p.P1173Lfs*? 1 0.366666667 ENSG00000204463 chr6:31639135-31639135;G/- frameshift_variant False BAHCC1@p.D1966H 1 0.057142857 ENSG00000266074 chr17:81459502-81459502;G/C missense_variant False BAHCC1@p.F2504L 1 0.327272727 ENSG00000266074 chr17:81462775-81462775;C/G missense_variant False BAHCC1@p.Q1987E 1 0.123966942 ENSG00000266074 chr17:81459565-81459565;C/G missense_variant False BAP1@p.D663H 1 0.916666667 ENSG00000163930 chr3:52402671-52402671;C/G missense_variant True BAP1@p.F15V 1 0.56097561 ENSG00000163930 chr3:52409738-52409738;A/C missense_variant True BAZ2B@p.Q1122E 1 0.054263566 ENSG00000226266 chr2:159386460-159386460;G/C missense_variant False BAZ1B@p.S1394F 1 0.469135802 ENSG00000009954 chr7:73442467-73442467;G/A missense_variant False BAZ2A@p.Q120Tfs*20 1 0.325358852 ENSG00000076108 chr12:56615393-56615394;-/C frameshift_variant False BAZ2A@p.L996P 1 0.52 ENSG00000076108 chr12:56604274-56604274;A/G missense_variant False BAZ2A@p.L868Cfs*38 1 0.333333333 ENSG00000076108 chr12:56605225-56605226;-/CA frameshift_variant False BAZ2A@p.E332Q 1 0.291139241 ENSG00000076108 chr12:56613162-56613162;C/G missense_variant False BAZ1B@p.S621C 1 0.078125 ENSG00000009954 chr7:73477599-73477599;G/C missense_variant False BAZ1B@p.S204L 1 0.108108108 ENSG00000009954 chr7:73492882-73492882;G/A missense_variant False BAZ1B@p.R519Q 1 0.110465116 ENSG00000009954 chr7:73477905-73477905;C/T missense_variant False BAZ1A@p.R1406T 1 0.131578947 ENSG00000198604 chr14:34761783-34761783;C/G missense_variant False BAZ1B@p.P1115S 1 0.28 ENSG00000009954 chr7:73459625-73459625;G/A missense_variant False BAZ1B@p.M1165I 1 0.137931034 ENSG00000009954 chr7:73450932-73450932;C/T missense_variant False BAZ1B@p.L641F 1 0.126760563 ENSG00000009954 chr7:73477538-73477538;C/G missense_variant False BAZ1B@p.H383D 1 0.15625 ENSG00000009954 chr7:73478314-73478314;G/C missense_variant False BAZ1B@p.H379Q 1 0.142857143 ENSG00000009954 chr7:73478324-73478324;G/C missense_variant False BAZ1B@p.D1385N 1 0.426086957 ENSG00000009954 chr7:73442495-73442495;C/T missense_variant False BAZ2A@p.S1081C 1 0.222222222 ENSG00000076108 chr12:56603402-56603402;G/C missense_variant False BAZ2A@p.S199N 1 0.25 ENSG00000076108 chr12:56615154-56615154;C/T missense_variant False BAZ2A@p.S637L 1 0.5 ENSG00000076108 chr12:56609924-56609924;G/A missense_variant False BAZ2A@p.V1597I 1 0.469387755 ENSG00000076108 chr12:56600310-56600310;C/T missense_variant False BAZ2B@p.D657H 1 0.145454545 ENSG00000226266 chr2:159431088-159431088;C/G missense_variant False BAZ2B@p.E1554K 1 0.35 ENSG00000226266 chr2:159349911-159349911;C/T missense_variant False BAZ2B@p.E2075K 1 0.553191489 ENSG00000226266 chr2:159324941-159324941;C/T missense_variant False BAZ2B@p.E918Q 1 0.107843137 ENSG00000226266 chr2:159405040-159405040;C/G missense_variant False BAZ2B@p.E958Q 1 0.222222222 ENSG00000226266 chr2:159400625-159400625;C/G missense_variant False BAZ2B@p.F591L 1 0.13740458 ENSG00000226266 chr2:159432884-159432884;G/C missense_variant False BAZ2B@p.G259S 1 0.126315789 ENSG00000226266 chr2:159439134-159439134;C/T missense_variant False BAZ2B@p.G563W 1 0.188811189 ENSG00000226266 chr2:159432970-159432970;C/A missense_variant False BAZ2B@p.G593R 1 0.14159292 ENSG00000226266 chr2:159432880-159432880;C/T missense_variant False BAZ2B@p.L95H 1 0.25 ENSG00000226266 chr2:159453663-159453663;A/T missense_variant False BAZ2B@p.M1018V 1 0.272727273 ENSG00000226266 chr2:159395792-159395792;T/C missense_variant False BAZ2B@p.N1502K 1 0.274193548 ENSG00000226266 chr2:159350065-159350065;G/C missense_variant False BAZ2B@p.N1883I 1 0.268656716 ENSG00000226266 chr2:159337579-159337579;T/A missense_variant False BAZ1A@p.V238I 1 0.138888889 ENSG00000198604 chr14:34807465-34807465;C/T missense_variant False BAZ1A@p.L1455F 1 0.284090909 ENSG00000198604 chr14:34758725-34758725;C/G missense_variant False BAP1@p.F228_N229del 1 0.371428571 ENSG00000163930 chr3:52406349-52406354;GTTGAA/- inframe_deletion True BARD1@p.D440G 1 0.533333333 ENSG00000138376 chr2:214769308-214769308;T/C missense_variant False BARD1@p.S519C 1 0.567567568 ENSG00000138376 chr2:214767494-214767494;G/C missense_variant False BARD1@p.S202C 1 0.304347826 ENSG00000138376 chr2:214781269-214781269;G/C missense_variant False BARD1@p.R112Q 1 0.833333333 ENSG00000138376 chr2:214792326-214792326;C/T missense_variant False BARD1@p.P315L 1 0.112149533 ENSG00000138376 chr2:214780930-214780930;G/A missense_variant False BARD1@p.H606D 1 0.245614035 ENSG00000138376 chr2:214745154-214745154;G/C missense_variant False BARD1@p.E67Q 1 0.129251701 ENSG00000138376 chr2:214797077-214797077;C/G missense_variant False BARD1@p.D29Y 1 0.16 ENSG00000138376 chr2:214809485-214809485;C/A missense_variant False BAZ1A@p.E1444Q 1 0.351145038 ENSG00000198604 chr14:34758760-34758760;C/G missense_variant False BARD1@p.D230N 1 0.325581395 ENSG00000138376 chr2:214781186-214781186;C/T missense_variant False BAP1@p.T273Sfs*55 1 0.111111111 ENSG00000163930 chr3:52405857-52405878;TGTGACTCTTGAGACTTGTGGG/- frameshift_variant True BAP1@p.S90C 1 0.5 ENSG00000163930 chr3:52408064-52408064;G/C missense_variant True BAP1@p.P338S 1 0.44 ENSG00000163930 chr3:52405214-52405214;G/A missense_variant True BAP1@p.K656N 1 0.802816901 ENSG00000163930 chr3:52402794-52402794;C/G missense_variant True BAP1@p.I557M 1 0.096774194 ENSG00000163930 chr3:52403474-52403474;G/C missense_variant True BARD1@p.Y676C 1 0.592592593 ENSG00000138376 chr2:214728983-214728983;T/C missense_variant False BARHL1@p.A131_F137delinsV 1 0.344827586 ENSG00000125492 chr9:132583189-132583206;CCAAGGCCGCGGAGGACT/- inframe_deletion False BARHL1@p.A21T 1 0.23015873 ENSG00000125492 chr9:132582858-132582858;G/A missense_variant False BARHL1@p.S269C 1 0.457399103 ENSG00000125492 chr9:132589344-132589344;C/G missense_variant False BARHL2@p.H85Y 1 0.379310345 ENSG00000143032 chr1:90716943-90716943;G/A missense_variant False BARHL2@p.S305W 1 0.189189189 ENSG00000143032 chr1:90712562-90712562;G/C missense_variant False BARX2@p.D28N 1 0.318627451 ENSG00000043039 chr11:129376117-129376117;G/A missense_variant False BARX2@p.E40K 1 0.152941176 ENSG00000043039 chr11:129376153-129376153;G/A missense_variant False BARX2@p.M186I 1 0.073170732 ENSG00000043039 chr11:129442904-129442904;G/A missense_variant False BASP1@p.E17K 1 0.347826087 ENSG00000176788 chr5:17275265-17275265;G/A missense_variant False BASP1@p.G175Afs*49 1 0.454545455 ENSG00000176788 chr5:17275739-17275739;G/- frameshift_variant False BATF2@p.P260H 1 0.526315789 ENSG00000168062 chr11:64989175-64989175;G/T missense_variant False BATF3@p.P103S 1 0.225165563 ENSG00000123685 chr1:212686868-212686868;G/A missense_variant False BATF3@p.R42T 1 0.240963855 ENSG00000123685 chr1:212697031-212697031;C/G missense_variant False BAZ1A@p.D1220H 1 0.118055556 ENSG00000198604 chr14:34764825-34764825;C/G missense_variant False BAZ1A@p.D1227Y 1 0.194805195 ENSG00000198604 chr14:34764804-34764804;C/A missense_variant False BAZ1A@p.E1088Afs*4 1 0.19047619 ENSG00000198604 chr14:34771548-34771549;CT/- frameshift_variant False BCL9@p.G92A 1 0.152173913 ENSG00000116128 chr1:147613104-147613104;G/C missense_variant False BCL9@p.M1387I 1 0.25 ENSG00000116128 chr1:147624839-147624839;G/T missense_variant False ATP1A2@p.M384I 1 0.278846154 ENSG00000018625 chr1:160128786-160128786;G/A missense_variant False BICD2@p.S343C 1 0.428571429 ENSG00000185963 chr9:92720334-92720334;G/C missense_variant False BICRA@p.S1528L 1 0.166666667 ENSG00000063169 chr19:47702315-47702315;C/T missense_variant False BICRA@p.S1094F 1 0.317757009 ENSG00000063169 chr19:47698666-47698666;C/T missense_variant False BICRA@p.I834M 1 0.666666667 ENSG00000063169 chr19:47694333-47694333;C/G missense_variant False BICDL2@p.E24K 1 0.153846154 ENSG00000162069 chr16:3035427-3035427;C/T missense_variant False BICDL1@p.S405L 1 0.115384615 ENSG00000135127 chr12:120072635-120072635;C/T missense_variant False BICDL1@p.R453P 1 0.183673469 ENSG00000135127 chr12:120080936-120080936;G/C missense_variant False BICD2@p.R694S 1 0.40625 ENSG00000185963 chr9:92718565-92718565;G/T missense_variant False BICRAL@p.E1070Q 1 0.189655172 ENSG00000112624 chr6:42865414-42865414;G/C missense_variant False BICD2@p.Q346H 1 0.224489796 ENSG00000185963 chr9:92720324-92720324;C/G missense_variant False BICD2@p.L693P 1 0.376237624 ENSG00000185963 chr9:92718567-92718567;A/G missense_variant False BICD2@p.G514S 1 0.25 ENSG00000185963 chr9:92719105-92719105;C/T missense_variant False BICD2@p.E716K 1 0.119047619 ENSG00000185963 chr9:92717909-92717909;C/T missense_variant False BICD2@p.E532K 1 0.516666667 ENSG00000185963 chr9:92719051-92719051;C/T missense_variant False BICD2@p.E461K 1 0.243243243 ENSG00000185963 chr9:92719264-92719264;C/T missense_variant False BICRA@p.S913I 1 0.315789474 ENSG00000063169 chr19:47694569-47694569;G/T missense_variant False BICRAL@p.G536R 1 0.195121951 ENSG00000112624 chr6:42829939-42829939;G/A missense_variant False BCL9@p.N811S 1 0.529411765 ENSG00000116128 chr1:147620587-147620587;A/G missense_variant False BIK@p.P149R 1 0.142857143 ENSG00000100290 chr22:43129268-43129268;C/G missense_variant False BIRC2@p.L313F 1 0.042813456 ENSG00000110330 chr11:102350887-102350887;G/C missense_variant False BIN2@p.E289D 1 0.299212598 ENSG00000110934 chr12:51292239-51292239;C/G missense_variant False BIN1@p.R591S 1 0.26 ENSG00000136717 chr2:127048535-127048535;C/A missense_variant False BIN1@p.Q43P 1 0.179775281 ENSG00000136717 chr2:127076663-127076663;T/G missense_variant False BIN1@p.I210M 1 0.180327869 ENSG00000136717 chr2:127064001-127064001;G/C missense_variant False BIN1@p.F51L 1 0.18125 ENSG00000136717 chr2:127076638-127076638;G/C missense_variant False BID@p.K203N 1 0.535714286 ENSG00000015475 chr22:17738122-17738122;C/G missense_variant False BICRAL@p.G688A 1 0.225806452 ENSG00000112624 chr6:42855872-42855872;G/C missense_variant False BID@p.H218Q 1 0.197368421 ENSG00000015475 chr22:17738077-17738077;G/T missense_variant False BICRAL@p.S888Y 1 0.204545455 ENSG00000112624 chr6:42864869-42864869;C/A missense_variant False BICRAL@p.S269F 1 0.435897436 ENSG00000112624 chr6:42829139-42829139;C/T missense_variant False BICRAL@p.P506L 1 0.623376623 ENSG00000112624 chr6:42829850-42829850;C/T missense_variant False BICRAL@p.K1005N 1 0.095238095 ENSG00000112624 chr6:42865221-42865221;G/C missense_variant False BICRAL@p.G840C 1 0.408163265 ENSG00000112624 chr6:42864724-42864724;G/T missense_variant False BICD1@p.E703K 1 0.208333333 ENSG00000151746 chr12:32334522-32334522;G/A missense_variant False BICD1@p.E195K 1 0.181818182 ENSG00000151746 chr12:32305700-32305700;G/A missense_variant False BICD1@p.E129K 1 0.583333333 ENSG00000151746 chr12:32216418-32216418;G/A missense_variant False BGLAP@p.L7F 1 0.2 ENSG00000242252 chr1:156242250-156242250;C/T missense_variant False BHLHE40@p.D242H 1 0.127272727 ENSG00000134107 chr3:4983177-4983177;G/C missense_variant False BHLHE22@p.S276W 1 0.166666667 ENSG00000180828 chr8:64581617-64581617;C/G missense_variant False BHLHE22@p.E157K 1 0.454545455 ENSG00000180828 chr8:64581259-64581259;G/A missense_variant False BHLHE22@p.A331T 1 0.5 ENSG00000180828 chr8:64581781-64581781;G/A missense_variant False BGN@p.R22K 1 0.978723404 ENSG00000182492 chrX:153504696-153504696;G/A missense_variant False BGN@p.E247Q 1 0.4 ENSG00000182492 chrX:153506892-153506892;G/C missense_variant False BFSP2@p.S325L 1 0.138888889 ENSG00000170819 chr3:133466910-133466910;C/T missense_variant False BICC1@p.V254L 1 0.071428571 ENSG00000122870 chr10:58789421-58789421;G/C missense_variant False BFSP2@p.L398V 1 0.523809524 ENSG00000170819 chr3:133472513-133472513;C/G missense_variant False BFSP2@p.E170K 1 0.418604651 ENSG00000170819 chr3:133447335-133447335;G/A missense_variant False BFSP1@p.S233F 1 0.269230769 ENSG00000125864 chr20:17508926-17508926;G/A missense_variant False BFSP1@p.L353V 1 0.206521739 ENSG00000125864 chr20:17495015-17495015;G/C missense_variant False BFSP1@p.I187M 1 0.206896552 ENSG00000125864 chr20:17512042-17512042;G/C missense_variant False BFAR@p.V389M 1 0.104651163 ENSG00000103429 chr16:14667639-14667639;G/A missense_variant False BHLHE40@p.E61K 1 0.882352941 ENSG00000134107 chr3:4980331-4980331;G/A missense_variant False BHLHE40@p.H388Y 1 0.44516129 ENSG00000134107 chr3:4983615-4983615;C/T missense_variant False BHLHE40@p.I223N 1 0.4 ENSG00000134107 chr3:4983121-4983121;T/A missense_variant False BHLHE41@p.E245K 1 0.275862069 ENSG00000123095 chr12:26122782-26122782;C/T missense_variant False BHLHE41@p.M36I 1 0.631578947 ENSG00000123095 chr12:26124537-26124537;C/T missense_variant False BHLHE41@p.Q105Pfs*46 1 0.5 ENSG00000123095 chr12:26123662-26123663;-/G frameshift_variant False BHMT2@p.A244V 1 0.38961039 ENSG00000132840 chr5:79083324-79083324;C/T missense_variant False BHMT2@p.E191K 1 0.198675497 ENSG00000132840 chr5:79082929-79082929;G/A missense_variant False BHMT2@p.G25A 1 0.193396226 ENSG00000132840 chr5:79077520-79077520;G/C missense_variant False BHMT2@p.R277T 1 0.141666667 ENSG00000132840 chr5:79083676-79083676;G/C missense_variant False BHMT2@p.V266A 1 0.351351351 ENSG00000132840 chr5:79083643-79083643;T/C missense_variant False BHMT@p.V164I 1 0.186915888 ENSG00000145692 chr5:79121230-79121230;G/A missense_variant False BICC1@p.D127V 1 0.381578947 ENSG00000122870 chr10:58785073-58785073;A/T missense_variant False BICC1@p.D730N 1 0.193548387 ENSG00000122870 chr10:58806590-58806590;G/A missense_variant False BICC1@p.E59K 1 0.379310345 ENSG00000122870 chr10:58513318-58513318;G/A missense_variant False BICC1@p.E880Q 1 0.149253731 ENSG00000122870 chr10:58817666-58817666;G/C missense_variant False BICC1@p.I530M 1 0.265822785 ENSG00000122870 chr10:58799117-58799117;T/G missense_variant False BIRC2@p.M391I 1 0.168674699 ENSG00000110330 chr11:102368355-102368355;G/A missense_variant False BIRC2@p.Q414E 1 0.181818182 ENSG00000110330 chr11:102368422-102368422;C/G missense_variant False BIRC3@p.L157F 1 0.338582677 ENSG00000023445 chr11:102324980-102324980;G/C missense_variant False BIRC6@p.R4400W 1 0.354285714 ENSG00000115760 chr2:32575209-32575209;C/T missense_variant False BIRC6@p.S3740L 1 0.209302326 ENSG00000115760 chr2:32515640-32515640;C/T missense_variant False BIRC6@p.S3504G 1 0.261904762 ENSG00000115760 chr2:32513096-32513096;A/G missense_variant False BIRC6@p.S321C 1 0.32 ENSG00000115760 chr2:32395521-32395521;C/G missense_variant False BIRC6@p.S2883L 1 0.076576577 ENSG00000115760 chr2:32499726-32499726;C/T missense_variant False BIRC6@p.S2862L 1 0.493589744 ENSG00000115760 chr2:32499663-32499663;C/T missense_variant False BIRC6@p.S1500N 1 0.203252033 ENSG00000115760 chr2:32448809-32448809;G/A missense_variant False BIRC6@p.R276G 1 0.210526316 ENSG00000115760 chr2:32388930-32388930;C/G missense_variant False BIRC6@p.M3472I 1 0.508333333 ENSG00000115760 chr2:32513002-32513002;G/T missense_variant False BIRC6@p.Q4634E 1 0.29787234 ENSG00000115760 chr2:32599808-32599808;C/G missense_variant False BIRC6@p.Q1060E 1 0.447368421 ENSG00000115760 chr2:32431020-32431020;C/G missense_variant False BIRC6@p.P4633Lfs*11 1 0.102040816 ENSG00000115760 chr2:32599801-32599801;T/- frameshift_variant False BIRC6@p.P2756R 1 0.372340426 ENSG00000115760 chr2:32491485-32491485;C/G missense_variant False BIRC6@p.P2609L 1 0.086956522 ENSG00000115760 chr2:32487659-32487659;C/T missense_variant False BIRC6@p.N2735H 1 0.901234568 ENSG00000115760 chr2:32490148-32490148;A/C missense_variant False BIRC6@p.S4205L 1 0.163538874 ENSG00000115760 chr2:32545664-32545664;C/T missense_variant False BIRC6@p.S440L 1 0.058823529 ENSG00000115760 chr2:32401524-32401524;C/T missense_variant False BIRC6@p.S4586L 1 0.333333333 ENSG00000115760 chr2:32597895-32597895;C/T missense_variant False BIRC6@p.S480L 1 0.409090909 ENSG00000115760 chr2:32406519-32406519;C/T missense_variant False BIRC6@p.S581L 1 0.078947368 ENSG00000115760 chr2:32415033-32415033;C/T missense_variant False BIRC6@p.T3988A 1 0.079136691 ENSG00000115760 chr2:32529692-32529692;A/G missense_variant False BIRC6@p.V3693Yfs*10 1 0.266666667 ENSG00000115760 chr2:32515497-32515510;AGTTGGCAATAGCC/- frameshift_variant False BIRC6@p.W2403C 1 0.1 ENSG00000115760 chr2:32478775-32478775;G/C missense_variant False BIRC7@p.E249K 1 0.346666667 ENSG00000101197 chr20:63239453-63239453;G/A missense_variant False BIRC7@p.G41S 1 0.4 ENSG00000101197 chr20:63236217-63236217;G/A missense_variant False BIVM-ERCC5@p.D1503N 1 0.2734375 ENSG00000270181 chr13:102875487-102875487;G/A missense_variant False BIVM-ERCC5@p.H609R 1 0.296296296 ENSG00000270181 chr13:102854371-102854371;A/G missense_variant False BIVM-ERCC5@p.Q1209E 1 0.704918033 ENSG00000270181 chr13:102866325-102866325;C/G missense_variant False BIVM-ERCC5@p.R177K 1 0.403846154 ENSG00000270181 chr13:102816479-102816479;G/A missense_variant False BIVM-ERCC5@p.R467W 1 0.311827957 ENSG00000270181 chr13:102839752-102839752;C/T missense_variant False BIVM-ERCC5@p.R523Q 1 0.442622951 ENSG00000270181 chr13:102852235-102852235;G/A missense_variant False BIVM-ERCC5@p.S986F 1 0.195652174 ENSG00000270181 chr13:102862744-102862744;C/T missense_variant False BIRC6@p.M418I 1 0.5221843 ENSG00000115760 chr2:32401382-32401382;G/A missense_variant False BIRC6@p.M3052I 1 0.321428571 ENSG00000115760 chr2:32501837-32501837;G/C missense_variant False BIRC3@p.R149T 1 0.364341085 ENSG00000023445 chr11:102324955-102324955;G/C missense_variant False BIRC6@p.D3628H 1 0.419354839 ENSG00000115760 chr2:32515303-32515303;G/C missense_variant False BIRC6@p.E3242K 1 0.347826087 ENSG00000115760 chr2:32508003-32508003;G/A missense_variant False BIRC6@p.E2861K 1 0.166666667 ENSG00000115760 chr2:32499659-32499659;G/A missense_variant False BIRC6@p.E1825Q 1 0.484848485 ENSG00000115760 chr2:32467641-32467641;G/C missense_variant False BIRC6@p.E164G 1 0.279411765 ENSG00000115760 chr2:32377753-32377753;A/G missense_variant False BIRC6@p.D4822N 1 0.1875 ENSG00000115760 chr2:32617794-32617794;G/A missense_variant False BIRC6@p.D448N 1 0.451612903 ENSG00000115760 chr2:32401547-32401547;G/A missense_variant False BIRC6@p.D2414H 1 0.232876712 ENSG00000115760 chr2:32478806-32478806;G/C missense_variant False BIRC6@p.L632F 1 0.172413793 ENSG00000115760 chr2:32415185-32415185;C/T missense_variant False BIRC6@p.D1504N 1 0.219512195 ENSG00000115760 chr2:32448820-32448820;G/A missense_variant False BIRC6@p.D1418Y 1 0.103448276 ENSG00000115760 chr2:32443504-32443504;G/T missense_variant False BIRC6@p.A3599T 1 0.097560976 ENSG00000115760 chr2:32515216-32515216;G/A missense_variant False BIRC5@p.E94K 1 0.14953271 ENSG00000089685 chr17:78216722-78216722;G/A missense_variant False BIRC5@p.E116K 1 0.38028169 ENSG00000089685 chr17:78223471-78223471;G/A missense_variant False BIRC3@p.S584C 1 0.085106383 ENSG00000023445 chr11:102337038-102337038;C/G missense_variant False BIRC6@p.E4428Q 1 0.133928571 ENSG00000115760 chr2:32575293-32575293;G/C missense_variant False BIRC6@p.E4486Q 1 0.379310345 ENSG00000115760 chr2:32594015-32594015;G/C missense_variant False BIRC6@p.E499K 1 0.115384615 ENSG00000115760 chr2:32414786-32414786;G/A missense_variant False BIRC6@p.E755K 1 0.159574468 ENSG00000115760 chr2:32415554-32415554;G/A missense_variant False BIRC6@p.G1465E 1 0.23880597 ENSG00000115760 chr2:32445578-32445578;G/A missense_variant False BIRC6@p.G3485S 1 0.096774194 ENSG00000115760 chr2:32513039-32513039;G/A missense_variant False BIRC6@p.G3485V 1 0.086956522 ENSG00000115760 chr2:32513040-32513040;G/T missense_variant False BIRC6@p.H3493N 1 0.077922078 ENSG00000115760 chr2:32513063-32513063;C/A missense_variant False BIRC6@p.L1566V 1 0.272727273 ENSG00000115760 chr2:32453885-32453885;C/G missense_variant False BIRC6@p.L1703F 1 0.116666667 ENSG00000115760 chr2:32464674-32464674;C/T missense_variant False BIRC6@p.L2358F 1 0.411764706 ENSG00000115760 chr2:32478638-32478638;C/T missense_variant False BIRC6@p.L2766V 1 0.405940594 ENSG00000115760 chr2:32491514-32491514;C/G missense_variant False BIRC6@p.L3214F 1 0.333333333 ENSG00000115760 chr2:32505145-32505145;C/T missense_variant False BIRC6@p.L3768V 1 0.307692308 ENSG00000115760 chr2:32515723-32515723;C/G missense_variant False BIRC6@p.L4612V 1 0.5 ENSG00000115760 chr2:32599742-32599742;C/G missense_variant False BIRC6@p.L4689M 1 0.344827586 ENSG00000115760 chr2:32603078-32603078;T/A missense_variant False BIRC6@p.L4698R 1 0.216216216 ENSG00000115760 chr2:32607477-32607477;T/G missense_variant False BFAR@p.K66N 1 0.291891892 ENSG00000103429 chr16:14644544-14644544;G/C missense_variant False BFAR@p.E72Q 1 0.433962264 ENSG00000103429 chr16:14644560-14644560;G/C missense_variant False BFAR@p.E220K 1 0.155555556 ENSG00000103429 chr16:14655085-14655085;G/A missense_variant False BCOR@p.I666F 1 0.24 ENSG00000183337 chrX:40073350-40073350;T/A missense_variant True BCORL1@p.P248A 1 0.590163934 ENSG00000085185 chrX:130013514-130013514;C/G missense_variant False BCORL1@p.P1004A 1 0.535211268 ENSG00000085185 chrX:130015782-130015782;C/G missense_variant False BCORL1@p.K1120N 1 0.217391304 ENSG00000085185 chrX:130016132-130016132;G/T missense_variant False BCORL1@p.K1102N 1 0.264705882 ENSG00000085185 chrX:130016078-130016078;G/T missense_variant False BCORL1@p.D542N 1 0.964705882 ENSG00000085185 chrX:130014396-130014396;G/A missense_variant False BCOR@p.S897L 1 0.944444444 ENSG00000183337 chrX:40072656-40072656;G/A missense_variant True BCOR@p.G183S 1 0.464646465 ENSG00000183337 chrX:40074799-40074799;C/T missense_variant True BCO2@p.T120R 1 0.28125 ENSG00000197580 chr11:112193539-112193539;C/G missense_variant False BCOR@p.F1397_R1398del 1 0.266666667 ENSG00000183337 chrX:40062373-40062378;TCTGAA/- inframe_deletion True BCOR@p.E428G 1 0.192307692 ENSG00000183337 chrX:40074063-40074063;T/C missense_variant True BCOR@p.E1042K 1 0.9375 ENSG00000183337 chrX:40071087-40071087;C/T missense_variant True BCOR@p.E1001K 1 0.140350877 ENSG00000183337 chrX:40071687-40071687;C/T missense_variant True BCOR@p.D438N 1 0.22826087 ENSG00000183337 chrX:40074034-40074034;C/T missense_variant True BCOR@p.D1631N 1 0.206896552 ENSG00000183337 chrX:40053971-40053971;C/T missense_variant True BCORL1@p.S532C 1 0.111111111 ENSG00000085185 chrX:130014367-130014367;C/G missense_variant False BCORL1@p.S575L 1 0.117647059 ENSG00000085185 chrX:130014496-130014496;C/T missense_variant False BCR@p.E322Q 1 0.388888889 ENSG00000186716 chr22:23181924-23181924;G/C missense_variant False BCR@p.G991S 1 0.070175439 ENSG00000186716 chr22:23295114-23295114;G/A missense_variant False BCR@p.L297M 1 0.128205128 ENSG00000186716 chr22:23181849-23181849;C/A missense_variant False BDH2@p.G234R 1 0.555555556 ENSG00000164039 chr4:103079740-103079740;C/G missense_variant False BDH2@p.K207N 1 0.086206897 ENSG00000164039 chr4:103082144-103082144;C/A missense_variant False BDH2@p.L57F 1 0.266666667 ENSG00000164039 chr4:103092679-103092679;G/A missense_variant False BDKRB1@p.I44M 1 0.06779661 ENSG00000100739 chr14:96263814-96263814;C/G missense_variant False BDKRB1@p.P30S 1 0.575 ENSG00000100739 chr14:96263770-96263770;C/T missense_variant False BDKRB2@p.D203H 1 0.36 ENSG00000168398 chr14:96240935-96240935;G/C missense_variant False BDKRB2@p.Q391L 1 0.16 ENSG00000168398 chr14:96241500-96241500;A/T missense_variant False BDNF@p.D142H 1 0.129032258 ENSG00000176697 chr11:27658141-27658141;C/G missense_variant False BDNF@p.S11L 1 0.179487179 ENSG00000176697 chr11:27658533-27658533;G/A missense_variant False BDP1@p.D1611H 1 0.25 ENSG00000145734 chr5:71516242-71516242;G/C missense_variant False BDP1@p.D2282G 1 0.4 ENSG00000145734 chr5:71549456-71549456;A/G missense_variant False BDP1@p.E1133K 1 0.25 ENSG00000145734 chr5:71510489-71510489;G/A missense_variant False BCOR@p.D1389N 1 0.272727273 ENSG00000183337 chrX:40062754-40062754;C/T missense_variant True BCO2@p.R86Q 1 0.38372093 ENSG00000197580 chr11:112179446-112179446;G/A missense_variant False BDP1@p.E1374K 1 0.614583333 ENSG00000145734 chr5:71512301-71512301;G/A missense_variant False BCL9L@p.E516Q 1 0.211538462 ENSG00000186174 chr11:118902197-118902197;C/G missense_variant False BCL9L@p.S134L 1 0.423076923 ENSG00000186174 chr11:118908281-118908281;G/A missense_variant False BCL9L@p.Q98R 1 0.391891892 ENSG00000186174 chr11:118908389-118908389;T/C missense_variant False BCL9L@p.P893L 1 0.547619048 ENSG00000186174 chr11:118901065-118901065;G/A missense_variant False BCL9L@p.P763S 1 0.357142857 ENSG00000186174 chr11:118901456-118901456;G/A missense_variant False BCL9L@p.M961I 1 0.088235294 ENSG00000186174 chr11:118900860-118900860;C/T missense_variant False BCL9L@p.F598C 1 0.391304348 ENSG00000186174 chr11:118901950-118901950;A/C missense_variant False BCL9L@p.E485K 1 0.055737705 ENSG00000186174 chr11:118902290-118902290;C/T missense_variant False BCO2@p.P521S 1 0.435897436 ENSG00000197580 chr11:112216265-112216265;C/T missense_variant False BCL9L@p.E405K 1 0.259259259 ENSG00000186174 chr11:118902530-118902530;C/T missense_variant False BCL9@p.R839L 1 0.336734694 ENSG00000116128 chr1:147620671-147620671;G/T missense_variant False BCL9@p.R603Q 1 0.216 ENSG00000116128 chr1:147619963-147619963;G/A missense_variant False BCL9@p.R508W 1 0.179245283 ENSG00000116128 chr1:147619677-147619677;C/T missense_variant False BCL9@p.R1283K 1 0.169811321 ENSG00000116128 chr1:147624526-147624526;G/A missense_variant False BCL9@p.P263L 1 0.168067227 ENSG00000116128 chr1:147618943-147618943;C/T missense_variant False BCL9L@p.S947L 1 0.355140187 ENSG00000186174 chr11:118900903-118900903;G/A missense_variant False BCLAF1@p.A245S 1 0.214285714 ENSG00000029363 chr6:136278148-136278148;C/A missense_variant False BCLAF1@p.D558N 1 0.376237624 ENSG00000029363 chr6:136275853-136275853;C/T missense_variant False BCLAF1@p.F394L 1 0.16 ENSG00000029363 chr6:136276343-136276343;A/C missense_variant False BCLAF1@p.K684E 1 0.45 ENSG00000029363 chr6:136269606-136269606;T/C missense_variant False BCLAF1@p.Q260E 1 0.2 ENSG00000029363 chr6:136278103-136278103;G/C missense_variant False BCLAF1@p.S542C 1 0.214285714 ENSG00000029363 chr6:136275900-136275900;G/C missense_variant False BCLAF1@p.S752L 1 0.1 ENSG00000029363 chr6:136268304-136268304;G/A missense_variant False BCLAF3@p.H480Y 1 0.1 ENSG00000173681 chrX:19955403-19955403;G/A missense_variant False BCLAF3@p.I69Tfs*13 1 0.373015873 ENSG00000173681 chrX:19966479-19966485;TAATATA/- frameshift_variant False BCLAF3@p.Q461H 1 0.306122449 ENSG00000173681 chrX:19955458-19955458;C/G missense_variant False BCLAF3@p.R309K 1 0.923076923 ENSG00000173681 chrX:19965392-19965392;C/T missense_variant False BCO1@p.E346Q 1 0.166666667 ENSG00000135697 chr16:81270351-81270351;G/C missense_variant False BCO1@p.F335L 1 0.404580153 ENSG00000135697 chr16:81270320-81270320;C/G missense_variant False BCO1@p.M39I 1 0.096774194 ENSG00000135697 chr16:81245527-81245527;G/A missense_variant False BCO2@p.K313N 1 0.390977444 ENSG00000197580 chr11:112200686-112200686;A/C missense_variant False BCO2@p.M198T 1 0.833333333 ENSG00000197580 chr11:112193954-112193954;T/C missense_variant False BDP1@p.E1296K 1 0.261363636 ENSG00000145734 chr5:71510978-71510978;G/A missense_variant False BDP1@p.E1630K 1 0.258064516 ENSG00000145734 chr5:71517349-71517349;G/A missense_variant False BFAR@p.C419Sfs*39 1 0.267716535 ENSG00000103429 chr16:14667730-14667730;G/- frameshift_variant False BEND6@p.S157L 1 0.151515152 ENSG00000151917 chr6:57015304-57015304;C/T missense_variant False BEST2@p.K30N 1 0.365384615 ENSG00000039987 chr19:12752682-12752682;A/T missense_variant False BEST1@p.M325V 1 0.222222222 ENSG00000167995 chr11:61959916-61959916;A/G missense_variant False BEST1@p.D441H 1 0.161290323 ENSG00000167995 chr11:61962475-61962475;G/C missense_variant False BEST1@p.C23Y 1 0.112676056 ENSG00000167995 chr11:61951874-61951874;G/A missense_variant False BEND7@p.R321T 1 0.247311828 ENSG00000165626 chr10:13452604-13452604;C/G missense_variant False BEND7@p.E187D 1 0.112970711 ENSG00000165626 chr10:13492731-13492731;C/G missense_variant False BEND6@p.S128C 1 0.147058824 ENSG00000151917 chr6:57015217-57015217;C/G missense_variant False BEND3@p.R57Q 1 0.504504505 ENSG00000178409 chr6:107098621-107098621;C/T missense_variant False BEND6@p.N185* 1 0.367346939 ENSG00000151917 chr6:57017238-57017239;-/T frameshift_variant False BEND6@p.E60K 1 0.230414747 ENSG00000151917 chr6:56992435-56992435;G/A missense_variant False BEND5@p.D353H 1 0.087719298 ENSG00000162373 chr1:48736290-48736290;C/G missense_variant False BEND4@p.S295F 1 0.5 ENSG00000188848 chr4:42143598-42143598;G/A missense_variant False BEND4@p.F249C 1 0.238095238 ENSG00000188848 chr4:42143736-42143736;A/C missense_variant False BEND3@p.V736M 1 0.127659574 ENSG00000178409 chr6:107068985-107068985;C/T missense_variant False BEST2@p.P492A 1 0.285714286 ENSG00000039987 chr19:12758021-12758021;C/G missense_variant False BEST2@p.Q194H 1 0.434782609 ENSG00000039987 chr19:12754977-12754977;G/T missense_variant False BEST2@p.V78L 1 0.136094675 ENSG00000039987 chr19:12753339-12753339;G/C missense_variant False BEST3@p.C355R 1 0.038461538 ENSG00000127325 chr12:69671465-69671465;A/G missense_variant False BEST3@p.D104N 1 0.454545455 ENSG00000127325 chr12:69693845-69693845;C/T missense_variant False BEST3@p.E306Q 1 0.222222222 ENSG00000127325 chr12:69672917-69672917;C/G missense_variant False BEST3@p.E502K 1 0.377952756 ENSG00000127325 chr12:69655410-69655410;C/T missense_variant False BEST3@p.E554K 1 0.323076923 ENSG00000127325 chr12:69655254-69655254;C/T missense_variant False BEST3@p.E63Q 1 0.150943396 ENSG00000127325 chr12:69694430-69694430;C/G missense_variant False BEST3@p.L315V 1 0.368421053 ENSG00000127325 chr12:69672890-69672890;A/C missense_variant False BEST3@p.R141C 1 0.365384615 ENSG00000127325 chr12:69693734-69693734;G/A missense_variant False BEST4@p.D204N 1 0.446927374 ENSG00000142959 chr1:44786100-44786100;C/T missense_variant False BEST4@p.L46V 1 0.200680272 ENSG00000142959 chr1:44787570-44787570;G/C missense_variant False BEST4@p.Q64P 1 0.22754491 ENSG00000142959 chr1:44787428-44787428;T/G missense_variant False BEST4@p.S4L 1 0.178571429 ENSG00000142959 chr1:44787695-44787695;G/A missense_variant False BEX1@p.E80D 1 0.891304348 ENSG00000133169 chrX:103063035-103063035;C/A missense_variant False BEX1@p.Q100P 1 0.107692308 ENSG00000133169 chrX:103062976-103062976;T/G missense_variant False BEND3@p.S575L 1 0.301587302 ENSG00000178409 chr6:107069467-107069467;G/A missense_variant False BEND3@p.R576H 1 0.303370787 ENSG00000178409 chr6:107069464-107069464;C/T missense_variant False BDP1@p.E1874K 1 0.514705882 ENSG00000145734 chr5:71524171-71524171;G/A missense_variant False BDP1@p.K858N 1 0.359375 ENSG00000145734 chr5:71509666-71509666;G/T missense_variant False BDP1@p.Q2266E 1 0.451612903 ENSG00000145734 chr5:71548733-71548733;C/G missense_variant False BDP1@p.Q2120E 1 0.1 ENSG00000145734 chr5:71542211-71542211;C/G missense_variant False BDP1@p.Q1917H 1 0.14084507 ENSG00000145734 chr5:71524302-71524302;G/C missense_variant False BDP1@p.Q1708H 1 0.124087591 ENSG00000145734 chr5:71522421-71522421;G/C missense_variant False BDP1@p.P2452S 1 0.559139785 ENSG00000145734 chr5:71560095-71560095;C/T missense_variant False BDP1@p.L1960F 1 0.128205128 ENSG00000145734 chr5:71532415-71532415;G/C missense_variant False BDP1@p.K710N 1 0.586666667 ENSG00000145734 chr5:71502680-71502680;G/C missense_variant False BEND3@p.L203V 1 0.121212121 ENSG00000178409 chr6:107070584-107070584;G/C missense_variant False BDP1@p.I2616M 1 0.084210526 ENSG00000145734 chr5:71564858-71564858;C/G missense_variant False BDP1@p.H1833Y 1 0.112903226 ENSG00000145734 chr5:71524048-71524048;C/T missense_variant False BDP1@p.G2224C 1 0.460526316 ENSG00000145734 chr5:71545145-71545145;G/T missense_variant False BDP1@p.G1712R 1 0.366972477 ENSG00000145734 chr5:71522431-71522431;G/C missense_variant False BDP1@p.E2193K 1 0.769230769 ENSG00000145734 chr5:71545052-71545052;G/A missense_variant False BDP1@p.E2108Q 1 0.285714286 ENSG00000145734 chr5:71542175-71542175;G/C missense_variant False BDP1@p.R1691K 1 0.552631579 ENSG00000145734 chr5:71522369-71522369;G/A missense_variant False BDP1@p.R1745T 1 0.240963855 ENSG00000145734 chr5:71522796-71522796;G/C missense_variant False BDP1@p.R2386H 1 0.104477612 ENSG00000145734 chr5:71553277-71553277;G/A missense_variant False BDP1@p.R824S 1 0.113636364 ENSG00000145734 chr5:71509564-71509564;G/T missense_variant False BDP1@p.S287C 1 0.305135952 ENSG00000145734 chr5:71467428-71467428;C/G missense_variant False BDP1@p.S45F 1 0.28 ENSG00000145734 chr5:71456011-71456011;C/T missense_variant False BECN1@p.K364N 1 0.307692308 ENSG00000126581 chr17:42811747-42811747;C/G missense_variant False BECN1@p.R80C 1 0.125 ENSG00000126581 chr17:42819570-42819570;G/A missense_variant False BEGAIN@p.P569S 1 0.225806452 ENSG00000183092 chr14:100538046-100538046;G/A missense_variant False BEND2@p.R73H 1 0.84375 ENSG00000177324 chrX:18216541-18216541;C/T missense_variant False BEND2@p.S38C 1 0.22 ENSG00000177324 chrX:18216646-18216646;G/C missense_variant False BEND2@p.S38F 1 0.904761905 ENSG00000177324 chrX:18216646-18216646;G/A missense_variant False BEND2@p.S469C 1 0.630434783 ENSG00000177324 chrX:18180533-18180533;G/C missense_variant False BEND3@p.E375Q 1 0.225 ENSG00000178409 chr6:107070068-107070068;C/G missense_variant False BEND3@p.E540A 1 0.305555556 ENSG00000178409 chr6:107069572-107069572;T/G missense_variant False BEND3@p.G523S 1 0.756756757 ENSG00000178409 chr6:107069624-107069624;C/T missense_variant False BEND3@p.K770R 1 0.1625 ENSG00000178409 chr6:107068882-107068882;T/C missense_variant False BACE2@p.D334N 1 0.211864407 ENSG00000182240 chr21:41250767-41250767;G/A missense_variant False BABAM2@p.S204F 1 0.138613861 ENSG00000158019 chr2:28129311-28129311;C/T missense_variant False BABAM2@p.H281R 1 0.543209877 ENSG00000158019 chr2:28241384-28241384;A/G missense_variant False ATP6V1E1@p.E25K 1 0.294117647 ENSG00000131100 chr22:17619487-17619487;C/T missense_variant False ATP6V1G3@p.E109K 1 0.197674419 ENSG00000151418 chr1:198523423-198523423;C/T missense_variant False ATP6V1E2@p.R85K 1 0.292134831 ENSG00000250565 chr2:46512458-46512458;C/T missense_variant False ATP6V1E2@p.Q67H 1 0.275862069 ENSG00000250565 chr2:46512511-46512511;C/G missense_variant False ATP6V1E2@p.I91M 1 0.299145299 ENSG00000250565 chr2:46512439-46512439;G/C missense_variant False ATP6V1E2@p.E110Q 1 0.2 ENSG00000250565 chr2:46512384-46512384;C/G missense_variant False ATP6V1E1@p.P209R 1 0.225 ENSG00000131100 chr22:17592729-17592729;G/C missense_variant False ATP6V1D@p.E239Q 1 0.179012346 ENSG00000100554 chr14:67338650-67338650;C/G missense_variant False ATP6V1H@p.E279D 1 0.330188679 ENSG00000047249 chr8:53795680-53795680;C/G missense_variant False ATP6V1C2@p.R138Q 1 0.074829932 ENSG00000143882 chr2:10768753-10768753;G/A missense_variant False ATP6V1C2@p.M22I 1 0.131578947 ENSG00000143882 chr2:10722915-10722915;G/A missense_variant False ATP6V1C2@p.L97S 1 0.063829787 ENSG00000143882 chr2:10764337-10764337;T/C missense_variant False ATP6V1C1@p.R249S 1 0.129411765 ENSG00000155097 chr8:103063145-103063145;C/A missense_variant False ATP6V1C1@p.Q363E 1 0.146153846 ENSG00000155097 chr8:103068685-103068685;C/G missense_variant False ATP6V1C1@p.Q131E 1 0.105769231 ENSG00000155097 chr8:103052740-103052740;C/G missense_variant False ATP6V1H@p.D99N 1 0.114649682 ENSG00000047249 chr8:53829455-53829455;C/T missense_variant False ATP6V1H@p.I50F 1 0.513513514 ENSG00000047249 chr8:53833052-53833052;T/A missense_variant False BABAM2@p.E357K 1 0.235294118 ENSG00000158019 chr2:28298472-28298472;G/A missense_variant False ATP7B@p.A424V 1 0.426229508 ENSG00000123191 chr13:51973949-51973949;G/A missense_variant False ATP7B@p.S1413Y 1 0.25862069 ENSG00000123191 chr13:51934916-51934916;G/T missense_variant False ATP7B@p.Q193E 1 0.083333333 ENSG00000123191 chr13:51974643-51974643;G/C missense_variant False ATP7B@p.M497I 1 0.364583333 ENSG00000123191 chr13:51970544-51970544;C/T missense_variant False ATP7B@p.E810K 1 0.104347826 ENSG00000123191 chr13:51957535-51957535;C/T missense_variant False ATP7B@p.E5Q 1 0.34375 ENSG00000123191 chr13:52011325-52011325;C/G missense_variant False ATP7B@p.D853H 1 0.095238095 ENSG00000123191 chr13:51950290-51950290;C/G missense_variant False ATP7A@p.T779A 1 0.965116279 ENSG00000165240 chrX:78013041-78013041;A/G missense_variant False ATP6V1H@p.Q255E 1 0.414012739 ENSG00000047249 chr8:53795754-53795754;G/C missense_variant False ATP7A@p.R508W 1 0.3125 ENSG00000165240 chrX:77998663-77998663;C/T missense_variant False ATP7A@p.L765F 1 0.504065041 ENSG00000165240 chrX:78012999-78012999;C/T missense_variant False ATP7A@p.H1036Y 1 0.406976744 ENSG00000165240 chrX:78029439-78029439;C/T missense_variant False ATP7A@p.E420Q 1 0.078947368 ENSG00000165240 chrX:77989880-77989880;G/C missense_variant False ATP6V1H@p.S246Ffs*13 1 0.147058824 ENSG00000047249 chr8:53795780-53795781;-/A frameshift_variant False ATP6V1H@p.R132H 1 0.307692308 ENSG00000047249 chr8:53817442-53817442;C/T missense_variant False ATP6V1C1@p.D355N 1 0.263636364 ENSG00000155097 chr8:103068661-103068661;G/A missense_variant False ATP6V1B2@p.R494I 1 0.354166667 ENSG00000147416 chr8:20220347-20220347;G/T missense_variant False ATP6V1B1@p.V335M 1 0.058823529 ENSG00000116039 chr2:70963255-70963255;G/A missense_variant False ATP6V0A4@p.R91W 1 0.403508772 ENSG00000105929 chr7:138768800-138768800;G/A missense_variant False ATP6V0D2@p.R237Q 1 0.25 ENSG00000147614 chr8:86150182-86150182;G/A missense_variant False ATP6V0D2@p.H200Y 1 0.180473373 ENSG00000147614 chr8:86142913-86142913;C/T missense_variant False ATP6V0C@p.D83N 1 0.093023256 ENSG00000185883 chr16:2519385-2519385;G/A missense_variant False ATP6V0B@p.V155M 1 0.455882353 ENSG00000117410 chr1:43977088-43977088;G/A missense_variant False ATP6V0B@p.R34L 1 0.276527331 ENSG00000117410 chr1:43975833-43975833;G/T missense_variant False ATP6V0A4@p.S348F 1 0.366666667 ENSG00000105929 chr7:138749304-138749304;G/A missense_variant False ATP6V0A4@p.K336N 1 0.173913043 ENSG00000105929 chr7:138752646-138752646;C/A missense_variant False ATP6V1B1@p.S440Y 1 0.534482759 ENSG00000116039 chr2:70964806-70964806;C/A missense_variant False ATP6V0A4@p.I617M 1 0.212765957 ENSG00000105929 chr7:138732934-138732934;G/C missense_variant False ATP6V0A4@p.G711E 1 0.326923077 ENSG00000105929 chr7:138721904-138721904;C/T missense_variant False ATP6V0A2@p.S210F 1 0.084507042 ENSG00000185344 chr12:123727890-123727890;C/T missense_variant False ATP6V0A2@p.R371H 1 0.253164557 ENSG00000185344 chr12:123743858-123743858;G/A missense_variant False ATP6V0A2@p.K221Nfs*6 1 0.108910891 ENSG00000185344 chr12:123733937-123733937;A/- frameshift_variant False ATP6V0A2@p.G480C 1 0.185714286 ENSG00000185344 chr12:123744708-123744708;G/T missense_variant False ATP6V0D2@p.R86W 1 0.134615385 ENSG00000147614 chr8:86113834-86113834;C/T missense_variant False ATP6V0E1@p.L10V 1 0.340425532 ENSG00000113732 chr5:172983888-172983888;C/G missense_variant False ATP6V0E2@p.F64L 1 0.752808989 ENSG00000171130 chr7:149878717-149878717;C/A missense_variant False ATP6V1A@p.D134N 1 0.15942029 ENSG00000114573 chr3:113784412-113784412;G/A missense_variant False ATP6V1A@p.E53Q 1 0.492957746 ENSG00000114573 chr3:113781124-113781124;G/C missense_variant False ATP6V1A@p.F586L 1 0.372881356 ENSG00000114573 chr3:113805522-113805522;C/G missense_variant False ATP6V1A@p.K580Q 1 0.606382979 ENSG00000114573 chr3:113805502-113805502;A/C missense_variant False ATP6V1A@p.L227V 1 0.120603015 ENSG00000114573 chr3:113786346-113786346;C/G missense_variant False ATP6V1A@p.M584I 1 0.515463918 ENSG00000114573 chr3:113805516-113805516;G/A missense_variant False ATP6V1A@p.Q65E 1 0.24516129 ENSG00000114573 chr3:113781160-113781160;C/G missense_variant False ATP6V1A@p.R232T 1 0.4875 ENSG00000114573 chr3:113786362-113786362;G/C missense_variant False ATP6V1A@p.R359T 1 0.193370166 ENSG00000114573 chr3:113794959-113794959;G/C missense_variant False ATP6V1A@p.V88A 1 0.178571429 ENSG00000114573 chr3:113784275-113784275;T/C missense_variant False ATP6V1B1@p.A307P 1 0.710144928 ENSG00000116039 chr2:70963171-70963171;G/C missense_variant False ATP6V1B1@p.E264K 1 0.152777778 ENSG00000116039 chr2:70962781-70962781;G/A missense_variant False ATP6V1B1@p.I267T 1 0.070422535 ENSG00000116039 chr2:70962791-70962791;T/C missense_variant False ATP6V1B1@p.P490S 1 0.393939394 ENSG00000116039 chr2:70965047-70965047;C/T missense_variant False ATP7B@p.V831I 1 0.172839506 ENSG00000123191 chr13:51950356-51950356;C/T missense_variant False ATP8A1@p.D238H 1 0.140350877 ENSG00000124406 chr4:42586359-42586359;C/G missense_variant False ATP8A1@p.E1125Q 1 0.188679245 ENSG00000124406 chr4:42414651-42414651;C/G missense_variant False ATP8B4@p.L640F 1 0.120689655 ENSG00000104043 chr15:49920249-49920249;C/G missense_variant False ATP9A@p.S811L 1 0.417040359 ENSG00000054793 chr20:51613816-51613816;G/A missense_variant False ATP9A@p.S153F 1 0.330769231 ENSG00000054793 chr20:51697461-51697461;G/A missense_variant False ATP9A@p.M641L 1 0.358974359 ENSG00000054793 chr20:51625287-51625287;T/A missense_variant False ATP9A@p.D897H 1 0.41509434 ENSG00000054793 chr20:51608574-51608574;C/G missense_variant False ATP8B4@p.Q142H 1 0.470588235 ENSG00000104043 chr15:50010854-50010854;T/G missense_variant False ATP8B4@p.Q1107E 1 0.164705882 ENSG00000104043 chr15:49860454-49860454;G/C missense_variant False ATP8B4@p.K362N 1 0.19047619 ENSG00000104043 chr15:49972739-49972739;C/G missense_variant False ATP8B2@p.V852A 1 0.6625 ENSG00000143515 chr1:154345140-154345140;T/C missense_variant False ATP8B4@p.H1134Y 1 0.296511628 ENSG00000104043 chr15:49860373-49860373;G/A missense_variant False ATP8B4@p.F872L 1 0.328888889 ENSG00000104043 chr15:49897373-49897373;G/C missense_variant False ATP8B4@p.F588V 1 0.102564103 ENSG00000104043 chr15:49920407-49920407;A/C missense_variant False ATP8B3@p.V1197M 1 0.173913043 ENSG00000130270 chr19:1784890-1784890;C/T missense_variant False ATP8B3@p.S184L 1 0.36875 ENSG00000130270 chr19:1807232-1807232;G/A missense_variant False ATP8B3@p.Q1069H 1 0.545454545 ENSG00000130270 chr19:1785655-1785655;C/G missense_variant False ATP9B@p.E356Q 1 0.545454545 ENSG00000166377 chr18:79213997-79213997;G/C missense_variant False ATP9B@p.E647K 1 0.31372549 ENSG00000166377 chr18:79330015-79330015;G/A missense_variant False ATP9B@p.G939R 1 0.342105263 ENSG00000166377 chr18:79347902-79347902;G/C missense_variant False ATP9B@p.R608T 1 0.25 ENSG00000166377 chr18:79329190-79329190;G/C missense_variant False ATP9B@p.R868H 1 0.197183099 ENSG00000166377 chr18:79345558-79345558;G/A missense_variant False ATPAF1@p.E100D 1 0.117647059 ENSG00000123472 chr1:46665331-46665331;C/G missense_variant False ATPAF1@p.E100Q 1 0.229166667 ENSG00000123472 chr1:46665333-46665333;C/G missense_variant False ATPAF1@p.E208Q 1 0.19047619 ENSG00000123472 chr1:46645223-46645223;C/G missense_variant False ATPAF2@p.H255Y 1 0.068493151 ENSG00000171953 chr17:18018656-18018656;G/A missense_variant False ATPAF2@p.W2C 1 0.272727273 ENSG00000171953 chr17:18039008-18039008;C/G missense_variant False ATPSCKMT@p.Q164E 1 0.11627907 ENSG00000150756 chr5:10235216-10235216;G/C missense_variant False ATR@p.D1071N 1 0.210526316 ENSG00000175054 chr3:142547871-142547871;C/T missense_variant False ATR@p.D1147N 1 0.125 ENSG00000175054 chr3:142542676-142542676;C/T missense_variant False ATR@p.E1489Q 1 0.528571429 ENSG00000175054 chr3:142515433-142515433;C/G missense_variant False ATR@p.E1849Q 1 0.25 ENSG00000175054 chr3:142498610-142498610;C/G missense_variant False ATR@p.E2209Q 1 0.478571429 ENSG00000175054 chr3:142467996-142467996;C/G missense_variant False ATR@p.E2354V 1 0.085714286 ENSG00000175054 chr3:142462071-142462071;T/A missense_variant False ATP8B3@p.F451L 1 0.454545455 ENSG00000130270 chr19:1800146-1800146;G/T missense_variant False ATP8B2@p.R41H 1 0.097560976 ENSG00000143515 chr1:154328164-154328164;G/A missense_variant False ATP8A1@p.E889V 1 0.44 ENSG00000124406 chr4:42455553-42455553;T/A missense_variant False ATP8A2@p.D405H 1 0.104166667 ENSG00000132932 chr13:25555018-25555018;G/C missense_variant False ATP8A2@p.R573K 1 0.116883117 ENSG00000132932 chr13:25577074-25577074;G/A missense_variant False ATP8A2@p.Q684E 1 0.057142857 ENSG00000132932 chr13:25581861-25581861;C/G missense_variant False ATP8A2@p.G1060V 1 0.205882353 ENSG00000132932 chr13:25862404-25862404;G/T missense_variant False ATP8A2@p.E842K 1 0.338235294 ENSG00000132932 chr13:25769185-25769185;G/A missense_variant False ATP8A2@p.E662Q 1 0.191489362 ENSG00000132932 chr13:25579924-25579924;G/C missense_variant False ATP8A2@p.E1106K 1 0.342857143 ENSG00000132932 chr13:25968618-25968618;G/A missense_variant False ATP8A2@p.D405E 1 0.230769231 ENSG00000132932 chr13:25555020-25555020;C/A missense_variant False ATP8B2@p.L288Q 1 0.111111111 ENSG00000143515 chr1:154334518-154334518;T/A missense_variant False ATP8A1@p.S394C 1 0.086666667 ENSG00000124406 chr4:42575647-42575647;G/C missense_variant False ATP8A1@p.R561C 1 0.358490566 ENSG00000124406 chr4:42543958-42543958;G/A missense_variant False ATP8A1@p.N466T 1 0.147058824 ENSG00000124406 chr4:42555984-42555984;T/G missense_variant False ATP8A1@p.L257F 1 0.128571429 ENSG00000124406 chr4:42581684-42581684;C/G missense_variant False ATP8A1@p.K865R 1 0.468085106 ENSG00000124406 chr4:42464715-42464715;T/C missense_variant False ATP8A1@p.G536W 1 0.177419355 ENSG00000124406 chr4:42549059-42549059;C/A missense_variant False ATP8A2@p.V80M 1 0.291666667 ENSG00000132932 chr13:25530015-25530015;G/A missense_variant False ATP8B1@p.D159N 1 0.333333333 ENSG00000081923 chr18:57701232-57701232;C/T missense_variant False ATP8B1@p.D34H 1 0.788461538 ENSG00000081923 chr18:57731708-57731708;C/G missense_variant False ATP8B1@p.D595H 1 0.407407407 ENSG00000081923 chr18:57674870-57674870;C/G missense_variant False ATP8B1@p.E1244K 1 0.236842105 ENSG00000081923 chr18:57648514-57648514;C/T missense_variant False ATP8B1@p.E244Q 1 0.363636364 ENSG00000081923 chr18:57695501-57695501;C/G missense_variant False ATP8B1@p.E660K 1 0.219512195 ENSG00000081923 chr18:57669437-57669437;C/T missense_variant False ATP8B1@p.F286L 1 0.309859155 ENSG00000081923 chr18:57695253-57695253;A/C missense_variant False ATP8B1@p.G795R 1 0.407407407 ENSG00000081923 chr18:57662518-57662518;C/T missense_variant False ATP8B1@p.R775T 1 0.322033898 ENSG00000081923 chr18:57662577-57662577;C/G missense_variant False ATP8B1@p.R941Q 1 0.227272727 ENSG00000081923 chr18:57655303-57655303;C/T missense_variant False ATP8B1@p.S1223F 1 0.139534884 ENSG00000081923 chr18:57648576-57648576;G/A missense_variant False ATP8B1@p.T144I 1 0.30952381 ENSG00000081923 chr18:57701276-57701276;G/A missense_variant False ATP8B1@p.V533L 1 0.153846154 ENSG00000081923 chr18:57684069-57684069;C/G missense_variant False ATP8B2@p.A49V 1 0.345454545 ENSG00000143515 chr1:154330411-154330411;C/T missense_variant False ATP8B2@p.D494N 1 0.25 ENSG00000143515 chr1:154342889-154342889;G/A missense_variant False ATP8B2@p.E986Q 1 0.084507042 ENSG00000143515 chr1:154346309-154346309;G/C missense_variant False ATP6V0A2@p.E332K 1 0.176470588 ENSG00000185344 chr12:123737227-123737227;G/A missense_variant False ATP6V0A2@p.E107K 1 0.221556886 ENSG00000185344 chr12:123724678-123724678;G/A missense_variant False ATP6V0A1@p.S623P 1 0.049079755 ENSG00000033627 chr17:42500894-42500894;T/C missense_variant False ATP2A2@p.R677P 1 0.294117647 ENSG00000174437 chr12:110340927-110340927;G/C missense_variant False ATP2A3@p.W1008C 1 0.191011236 ENSG00000074370 chr17:3928284-3928284;C/G missense_variant False ATP2A3@p.V62M 1 0.1 ENSG00000074370 chr17:3953382-3953382;C/T missense_variant False ATP2A3@p.E696K 1 0.431578947 ENSG00000074370 chr17:3940985-3940985;C/T missense_variant False ATP2A2@p.V704L 1 0.258064516 ENSG00000174437 chr12:110342240-110342240;G/C missense_variant False ATP2A2@p.S901C 1 0.132653061 ENSG00000174437 chr12:110345343-110345343;C/G missense_variant False ATP2A2@p.S531R 1 0.522727273 ENSG00000174437 chr12:110339551-110339551;A/C missense_variant False ATP2A2@p.R35T 1 0.15 ENSG00000174437 chr12:110281893-110281893;G/C missense_variant False ATP2A1@p.P803L 1 0.197674419 ENSG00000196296 chr16:28902270-28902270;C/T missense_variant False ATP2A2@p.P535Lfs*2 1 0.446808511 ENSG00000174437 chr12:110339561-110339561;T/- frameshift_variant False ATP2A2@p.P147A 1 0.381443299 ENSG00000174437 chr12:110296713-110296713;C/G missense_variant False ATP2A2@p.I71M 1 0.256097561 ENSG00000174437 chr12:110282789-110282789;A/G missense_variant False ATP2A2@p.D859N 1 0.559633028 ENSG00000174437 chr12:110344939-110344939;G/A missense_variant False ATP2A1@p.S287Y 1 0.092857143 ENSG00000196296 chr16:28887654-28887654;C/A missense_variant False ATP2A1@p.R615H 1 0.537735849 ENSG00000196296 chr16:28900660-28900660;G/A missense_variant False ATP2B1@p.E1083K 1 0.23655914 ENSG00000070961 chr12:89599221-89599221;C/T missense_variant False ATP2B1@p.E303K 1 0.413793103 ENSG00000070961 chr12:89630526-89630526;C/T missense_variant False ATP2B1@p.E605D 1 0.361702128 ENSG00000070961 chr12:89620013-89620013;C/G missense_variant False ATP2B1@p.E753Q 1 0.12244898 ENSG00000070961 chr12:89610499-89610499;C/G missense_variant False ATP2B1@p.K94N 1 0.137724551 ENSG00000070961 chr12:89642282-89642282;C/G missense_variant False ATP2B1@p.L923V 1 0.422222222 ENSG00000070961 chr12:89603793-89603793;G/C missense_variant False ATP2B1@p.N920Rfs*12 1 0.357142857 ENSG00000070961 chr12:89603771-89603801;TTCATCATTGTACGTGAGATGAGAGGCTTAT/- frameshift_variant False ATP2B1@p.Q217E 1 0.696969697 ENSG00000070961 chr12:89635009-89635009;G/C missense_variant False ATP2B1@p.S580F 1 0.394366197 ENSG00000070961 chr12:89620089-89620089;G/A missense_variant False ATP2B2@p.E238K 1 0.166666667 ENSG00000157087 chr3:10401022-10401022;C/T missense_variant False ATP2B2@p.E41K 1 0.214285714 ENSG00000157087 chr3:10449423-10449423;C/T missense_variant False ATP2B2@p.E446Q 1 0.184615385 ENSG00000157087 chr3:10375477-10375477;C/G missense_variant False ATP2B2@p.G1115S 1 0.151515152 ENSG00000157087 chr3:10338220-10338220;C/T missense_variant False ATP2B2@p.K372R 1 0.102564103 ENSG00000157087 chr3:10378305-10378305;T/C missense_variant False ATP2B2@p.K489N 1 0.41025641 ENSG00000157087 chr3:10371968-10371968;C/G missense_variant False ATP2B2@p.N13K 1 0.284482759 ENSG00000157087 chr3:10449505-10449505;G/T missense_variant False ATP2B2@p.R1110Q 1 0.148148148 ENSG00000157087 chr3:10338234-10338234;C/T missense_variant False ATP2A1@p.P824S 1 0.064516129 ENSG00000196296 chr16:28902332-28902332;C/T missense_variant False ATP2A1@p.P602T 1 0.6 ENSG00000196296 chr16:28900620-28900620;C/A missense_variant False ATP2B3@p.E356Q 1 0.275862069 ENSG00000067842 chrX:153547942-153547942;G/C missense_variant False ATP1A3@p.Q386H 1 0.04950495 ENSG00000105409 chr19:41981981-41981981;C/A missense_variant False ATP1A4@p.K635M 1 0.088050314 ENSG00000132681 chr1:160173630-160173630;A/T missense_variant False ATP1A4@p.I165M 1 0.572368421 ENSG00000132681 chr1:160156128-160156128;C/G missense_variant False ATP1A4@p.E192K 1 0.433962264 ENSG00000132681 chr1:160159050-160159050;G/A missense_variant False ATP1A4@p.E1009K 1 0.211267606 ENSG00000132681 chr1:160186331-160186331;G/A missense_variant False ATP1A3@p.V930I 1 0.324324324 ENSG00000105409 chr19:41968855-41968855;C/T missense_variant False ATP1A3@p.R474C 1 0.113821138 ENSG00000105409 chr19:41981558-41981558;G/A missense_variant False ATP1A3@p.K836N 1 0.406976744 ENSG00000105409 chr19:41970258-41970258;C/G missense_variant False ATP2A1@p.M623I 1 0.181818182 ENSG00000196296 chr16:28900685-28900685;G/C missense_variant False ATP1A3@p.F869L 1 0.168674699 ENSG00000105409 chr19:41969555-41969555;G/T missense_variant False ATP1A3@p.A140V 1 0.490909091 ENSG00000105409 chr19:41986207-41986207;G/A missense_variant False ATP1A2@p.V1001I 1 0.328125 ENSG00000018625 chr1:160139951-160139951;G/A missense_variant False ATP1A2@p.T364M 1 0.452830189 ENSG00000018625 chr1:160128725-160128725;C/T missense_variant False ATP1A2@p.R1007Q 1 0.379310345 ENSG00000018625 chr1:160139970-160139970;G/A missense_variant False ATP1A2@p.N76K 1 0.148288973 ENSG00000018625 chr1:160123263-160123263;C/G missense_variant False ATP1A4@p.Q862H 1 0.253731343 ENSG00000132681 chr1:160176598-160176598;G/C missense_variant False ATP1A4@p.S975F 1 0.472440945 ENSG00000132681 chr1:160181986-160181986;C/T missense_variant False ATP1B1@p.D164Y 1 0.472972973 ENSG00000143153 chr1:169127331-169127331;G/T missense_variant False ATP1B2@p.E101K 1 0.175925926 ENSG00000129244 chr17:7653900-7653900;G/A missense_variant False ATP1B2@p.R130C 1 0.079051383 ENSG00000129244 chr17:7654093-7654093;C/T missense_variant False ATP1B2@p.S161C 1 0.170818505 ENSG00000129244 chr17:7654187-7654187;C/G missense_variant False ATP1B3@p.E196K 1 0.321428571 ENSG00000069849 chr3:141921980-141921980;G/A missense_variant False ATP1B4@p.D210Y 1 0.063829787 ENSG00000101892 chrX:120375437-120375437;G/T missense_variant False ATP1B4@p.P77_Q84del 1 0.545454545 ENSG00000101892 chrX:120366687-120366710;CAGCCAACAGGCAATGCCTGGTGG/- inframe_deletion False ATP23@p.D100H 1 0.111111111 ENSG00000166896 chr12:57947059-57947059;G/C missense_variant False ATP23@p.E210K 1 0.557142857 ENSG00000166896 chr12:57956777-57956777;G/A missense_variant False ATP23@p.E89K 1 0.471698113 ENSG00000166896 chr12:57947026-57947026;G/A missense_variant False ATP23@p.P5T 1 0.461538462 ENSG00000166896 chr12:57941714-57941714;C/A missense_variant False ATP2A1@p.D133N 1 0.245901639 ENSG00000196296 chr16:28882523-28882523;G/A missense_variant False ATP2A1@p.E79K 1 0.1625 ENSG00000196296 chr16:28880930-28880930;G/A missense_variant False ATP2A1@p.F209L 1 0.347826087 ENSG00000196296 chr16:28887271-28887271;C/G missense_variant False ATP2A1@p.H864D 1 0.215189873 ENSG00000196296 chr16:28902645-28902645;C/G missense_variant False ATP2B2@p.V876M 1 0.456521739 ENSG00000157087 chr3:10345428-10345428;C/T missense_variant False ATP2B3@p.R482H 1 0.327868852 ENSG00000067842 chrX:153549603-153549603;G/A missense_variant False ATP6V0A1@p.S243L 1 0.253521127 ENSG00000033627 chr17:42483049-42483049;C/T missense_variant False ATP5ME@p.R36W 1 0.266666667 ENSG00000169020 chr4:673387-673387;G/A missense_variant False ATP5PD@p.H155Y 1 0.152941176 ENSG00000167863 chr17:75038955-75038955;G/A missense_variant False ATP5PB@p.R163C 1 0.507042254 ENSG00000116459 chr1:111456729-111456729;C/T missense_variant False ATP5PB@p.M256V 1 0.161290323 ENSG00000116459 chr1:111460989-111460989;A/G missense_variant False ATP5PB@p.F100L 1 0.064220183 ENSG00000116459 chr1:111456160-111456160;T/C missense_variant False ATP5MF-PTCD1@p.E14Q 1 0.163265306 ENSG00000248919 chr7:99460167-99460167;C/G missense_variant False ATP5MF-PTCD1@p.D9N 1 0.183206107 ENSG00000248919 chr7:99460182-99460182;C/T missense_variant False ATP5MD@p.Y18C 1 0.339622642 None chr10:103392405-103392405;T/C missense_variant False ATP5F1B@p.S386L 1 0.325 ENSG00000110955 chr12:56640110-56640110;G/A missense_variant False ATP5MD@p.E5Q 1 0.2 None chr10:103392445-103392445;C/G missense_variant False ATP5MC2@p.Q111R 1 0.103448276 ENSG00000135390 chr12:53665408-53665408;T/C missense_variant False ATP5MC1@p.I22V 1 0.292237443 ENSG00000159199 chr17:48894396-48894396;A/G missense_variant False ATP5F1E@p.R14Q 1 0.072368421 ENSG00000124172 chr20:59030421-59030421;C/T missense_variant False ATP5F1C@p.S241F 1 0.25 ENSG00000165629 chr10:7802354-7802354;C/T missense_variant False ATP5F1C@p.P85L 1 0.280172414 ENSG00000165629 chr10:7799020-7799020;C/T missense_variant False ATP5PF@p.K46N 1 0.133333333 ENSG00000154723 chr21:25729657-25729657;C/A missense_variant False ATP6AP1@p.A135G 1 0.936170213 ENSG00000071553 chrX:154432306-154432306;C/G missense_variant False ATP6AP1@p.H64Y 1 0.366666667 ENSG00000071553 chrX:154429076-154429076;C/T missense_variant False ATP6AP1@p.K451Q 1 0.365079365 ENSG00000071553 chrX:154435829-154435829;A/C missense_variant False ATP6AP1@p.R225C 1 0.129032258 ENSG00000071553 chrX:154433709-154433709;C/T missense_variant False ATP6AP2@p.E262Q 1 0.211111111 ENSG00000182220 chrX:40600807-40600807;G/C missense_variant False ATP6AP2@p.G66S 1 0.163636364 ENSG00000182220 chrX:40591261-40591261;G/A missense_variant False ATP6AP2@p.L254V 1 0.5 ENSG00000182220 chrX:40600783-40600783;C/G missense_variant False ATP6AP2@p.R31Q 1 0.469387755 ENSG00000182220 chrX:40589040-40589040;G/A missense_variant False ATP6V0A1@p.E809Q 1 0.109929078 ENSG00000033627 chr17:42521031-42521031;G/C missense_variant False ATP6V0A1@p.H559R 1 0.39408867 ENSG00000033627 chr17:42499039-42499039;A/G missense_variant False ATP6V0A1@p.L472F 1 0.578199052 ENSG00000033627 chr17:42495133-42495133;C/T missense_variant False ATP6V0A1@p.P248T 1 0.235294118 ENSG00000033627 chr17:42483063-42483063;C/A missense_variant False ATP6V0A1@p.P42A 1 0.528301887 ENSG00000033627 chr17:42466435-42466435;C/G missense_variant False ATP6V0A1@p.Q136K 1 0.166666667 ENSG00000033627 chr17:42470201-42470201;C/A missense_variant False ATP6V0A1@p.Q199H 1 0.161290323 ENSG00000033627 chr17:42478553-42478553;G/T missense_variant False ATP6V0A1@p.Q433R 1 0.215517241 ENSG00000033627 chr17:42494457-42494457;A/G missense_variant False ATP5F1C@p.A123V 1 0.11627907 ENSG00000165629 chr10:7799134-7799134;C/T missense_variant False ATP5F1B@p.Q30E 1 0.222222222 ENSG00000110955 chr12:56645876-56645876;G/C missense_variant False ATP2B3@p.V683L 1 0.333333333 ENSG00000067842 chrX:153553258-153553258;G/T missense_variant False ATP2B4@p.I160M 1 0.305084746 ENSG00000058668 chr1:203699548-203699548;C/G missense_variant False ATP2B4@p.W171C 1 0.315151515 ENSG00000058668 chr1:203699581-203699581;G/C missense_variant False ATP2B4@p.S913L 1 0.213592233 ENSG00000058668 chr1:203721336-203721336;C/T missense_variant False ATP2B4@p.Q927E 1 0.196850394 ENSG00000058668 chr1:203721377-203721377;C/G missense_variant False ATP2B4@p.M882V 1 0.084033613 ENSG00000058668 chr1:203721242-203721242;A/G missense_variant False ATP2B4@p.K88Qfs*40 1 0.159090909 ENSG00000058668 chr1:203698217-203698218;-/C frameshift_variant False ATP2B4@p.K88E 1 0.432432432 ENSG00000058668 chr1:203698225-203698225;A/G missense_variant False ATP2B4@p.G1015R 1 0.264705882 ENSG00000058668 chr1:203723899-203723899;G/C missense_variant False ATP5F1B@p.P195S 1 0.173469388 ENSG00000110955 chr12:56643861-56643861;G/A missense_variant False ATP2B4@p.F93L 1 0.243478261 ENSG00000058668 chr1:203698242-203698242;C/G missense_variant False ATP2B4@p.F542V 1 0.355072464 ENSG00000058668 chr1:203709367-203709367;T/G missense_variant False ATP2B4@p.E723Q 1 0.106382979 ENSG00000058668 chr1:203712095-203712095;G/C missense_variant False ATP2B4@p.E127K 1 0.262135922 ENSG00000058668 chr1:203698342-203698342;G/A missense_variant False ATP2B4@p.D680H 1 0.282051282 ENSG00000058668 chr1:203711966-203711966;G/C missense_variant False ATP2B4@p.D385H 1 0.097560976 ENSG00000058668 chr1:203707062-203707062;G/C missense_variant False ATP2C1@p.K700E 1 0.081081081 ENSG00000017260 chr3:130996083-130996083;A/G missense_variant False ATP2C1@p.M422I 1 0.436781609 ENSG00000017260 chr3:130967377-130967377;G/T missense_variant False ATP2C1@p.R799L 1 0.194029851 ENSG00000017260 chr3:130998298-130998298;G/T missense_variant False ATP2C2@p.A122Sfs*33 1 0.215686275 ENSG00000064270 chr16:84408440-84408464;TGCCCTGGTGAGTGTCCTCACCAAG/- frameshift_variant False ATP2C2@p.D785N 1 0.111111111 ENSG00000064270 chr16:84460673-84460673;G/A missense_variant False ATP2C2@p.M598I 1 0.307692308 ENSG00000064270 chr16:84452054-84452054;G/A missense_variant False ATP2C2@p.N903S 1 0.104761905 ENSG00000064270 chr16:84462115-84462115;A/G missense_variant False ATP2C2@p.P167S 1 0.24 ENSG00000064270 chr16:84410749-84410749;C/T missense_variant False ATP2C2@p.Q84H 1 0.177419355 ENSG00000064270 chr16:84405169-84405169;G/C missense_variant False ATP4A@p.R330W 1 0.5 ENSG00000105675 chr19:35559873-35559873;G/A missense_variant False ATP4A@p.V101D 1 0.24137931 ENSG00000105675 chr19:35562553-35562553;A/T missense_variant False ATP4B@p.E280Q 1 0.214285714 ENSG00000186009 chr13:113649412-113649412;C/G missense_variant False ATP4B@p.E6del 1 0.2 ENSG00000186009 chr13:113658127-113658129;CTC/- inframe_deletion False ATP5F1A@p.A553G 1 0.5 ENSG00000152234 chr18:46084286-46084286;G/C missense_variant False ATP5F1A@p.E144K 1 0.18018018 ENSG00000152234 chr18:46089876-46089876;C/T missense_variant False ATP5F1A@p.F547L 1 0.5 ENSG00000152234 chr18:46084303-46084303;G/T missense_variant False ATP5F1A@p.R347W 1 0.3 ENSG00000152234 chr18:46087145-46087145;G/A missense_variant False ATR@p.G1181V 1 0.217391304 ENSG00000175054 chr3:142540943-142540943;C/A missense_variant False ATR@p.H1449L 1 0.482142857 ENSG00000175054 chr3:142519705-142519705;T/A missense_variant False ATR@p.I2603M 1 0.421052632 ENSG00000175054 chr3:142449555-142449555;G/C missense_variant False AZIN1@p.M406I 1 0.305084746 ENSG00000155096 chr8:102829289-102829289;C/T missense_variant False B3GALNT1@p.L113V 1 0.401709402 ENSG00000169255 chr3:161086418-161086418;G/C missense_variant False B2M@p.L15V 1 0.146666667 ENSG00000166710 chr15:44711589-44711589;C/G missense_variant True B2M@p.D54N 1 0.209230769 ENSG00000166710 chr15:44715515-44715515;G/A missense_variant True AZU1@p.G194S 1 0.5 ENSG00000172232 chr19:830927-830927;G/A missense_variant False AZIN2@p.Y352H 1 0.315315315 ENSG00000142920 chr1:33117926-33117926;T/C missense_variant False AZIN2@p.V450M 1 0.234375 ENSG00000142920 chr1:33120147-33120147;G/A missense_variant False AZIN1@p.K327R 1 0.311764706 ENSG00000155096 chr8:102829861-102829861;T/C missense_variant False AXL@p.H306Y 1 0.114864865 ENSG00000167601 chr19:41238076-41238076;C/T missense_variant False AZIN1@p.I252M 1 0.033742331 ENSG00000155096 chr8:102833204-102833204;G/C missense_variant False AZIN1@p.G376V 1 0.554216867 ENSG00000155096 chr8:102829380-102829380;C/A missense_variant False AZIN1@p.F243I 1 0.28358209 ENSG00000155096 chr8:102834203-102834203;A/T missense_variant False AZI2@p.Y390C 1 0.25 ENSG00000163512 chr3:28324052-28324052;T/C missense_variant False AZI2@p.R97Q 1 0.12962963 ENSG00000163512 chr3:28338542-28338542;C/T missense_variant False AZGP1@p.E249Q 1 0.333333333 ENSG00000160862 chr7:99967155-99967155;C/G missense_variant False B3GALNT2@p.D362Y 1 0.154761905 ENSG00000162885 chr1:235455626-235455626;C/A missense_variant False B3GALNT2@p.R454I 1 0.219512195 ENSG00000162885 chr1:235453097-235453097;C/A missense_variant False B3GALT1@p.E309K 1 0.3375 ENSG00000172318 chr2:167869964-167869964;G/A missense_variant False B3GALT1@p.R273Q 1 0.438596491 ENSG00000172318 chr2:167869857-167869857;G/A missense_variant False B3GALT2@p.F43L 1 0.235294118 ENSG00000162630 chr1:193181434-193181434;G/C missense_variant False B3GALT2@p.H76del 1 0.572327044 ENSG00000162630 chr1:193181335-193181337;GTG/- inframe_deletion False B3GALT2@p.N365K 1 0.247706422 ENSG00000162630 chr1:193180468-193180468;A/C missense_variant False B3GALT4@p.E290Q 1 0.144278607 ENSG00000235863 chr6:33278287-33278287;G/C missense_variant False B3GALT4@p.I373K 1 0.132450331 ENSG00000235863 chr6:33278537-33278537;T/A missense_variant False B3GALT4@p.L11V 1 0.432692308 ENSG00000235863 chr6:33277450-33277450;C/G missense_variant False B3GALT4@p.S272T 1 0.230769231 ENSG00000235863 chr6:33278233-33278233;T/A missense_variant False B3GALT5@p.D123N 1 0.228070175 ENSG00000183778 chr21:39660926-39660926;G/A missense_variant False B3GALT5@p.E72K 1 0.372093023 ENSG00000183778 chr21:39660773-39660773;G/A missense_variant False B3GALT5@p.I255M 1 0.310810811 ENSG00000183778 chr21:39661324-39661324;C/G missense_variant False B3GALT5@p.V60L 1 0.091549296 ENSG00000183778 chr21:39660737-39660737;G/C missense_variant False B3GAT1@p.D60N 1 0.294117647 ENSG00000109956 chr11:134384123-134384123;C/T missense_variant False B3GAT2@p.P220S 1 0.434782609 ENSG00000112309 chr6:70894206-70894206;G/A missense_variant False AXL@p.Y866C 1 0.479166667 ENSG00000167601 chr19:41259816-41259816;A/G missense_variant False AXL@p.G415A 1 0.25974026 ENSG00000167601 chr19:41239273-41239273;G/C missense_variant False B3GAT3@p.Q230E 1 0.235294118 ENSG00000149541 chr11:62616727-62616727;G/C missense_variant False AXDND1@p.L449V 1 0.118644068 ENSG00000162779 chr1:179430464-179430464;C/G missense_variant False AXIN1@p.L413R 1 0.24 ENSG00000103126 chr16:304320-304320;A/C missense_variant True AXIN1@p.F810L 1 0.191780822 ENSG00000103126 chr16:289472-289472;G/C missense_variant True AXDND1@p.T456A 1 0.127272727 ENSG00000162779 chr1:179430485-179430485;A/G missense_variant False AXDND1@p.S733I 1 0.390243902 ENSG00000162779 chr1:179491644-179491644;G/T missense_variant False AXDND1@p.S47L 1 0.25 ENSG00000162779 chr1:179368842-179368842;C/T missense_variant False AXDND1@p.S1007P 1 0.306122449 ENSG00000162779 chr1:179534950-179534950;T/C missense_variant False AXDND1@p.L320F 1 0.261904762 ENSG00000162779 chr1:179393999-179393999;A/T missense_variant False AXL@p.E661K 1 0.333333333 ENSG00000167601 chr19:41253653-41253653;G/A missense_variant False AXDND1@p.K20E 1 0.146666667 ENSG00000162779 chr1:179366567-179366567;A/G missense_variant False AXDND1@p.I803M 1 0.318181818 ENSG00000162779 chr1:179509316-179509316;C/G missense_variant False AXDND1@p.E479Q 1 0.272727273 ENSG00000162779 chr1:179430554-179430554;G/C missense_variant False AXDND1@p.E190Q 1 0.215189873 ENSG00000162779 chr1:179379469-179379469;G/C missense_variant False AXDND1@p.D115N 1 0.239130435 ENSG00000162779 chr1:179370047-179370047;G/A missense_variant False AWAT2@p.G186R 1 0.7 ENSG00000147160 chrX:70043160-70043160;C/T missense_variant False AXIN1@p.P779L 1 0.133333333 ENSG00000103126 chr16:289566-289566;G/A missense_variant True AXIN2@p.D167H 1 0.544117647 ENSG00000168646 chr17:65558122-65558122;C/G missense_variant False AXIN2@p.E140Q 1 0.92972973 ENSG00000168646 chr17:65558203-65558203;C/G missense_variant False AXIN2@p.E198Q 1 0.119047619 ENSG00000168646 chr17:65558029-65558029;C/G missense_variant False AXIN2@p.E265K 1 0.219178082 ENSG00000168646 chr17:65557828-65557828;C/T missense_variant False AXIN2@p.E30D 1 0.513888889 ENSG00000168646 chr17:65558531-65558531;T/G missense_variant False AXIN2@p.E386Q 1 0.086206897 ENSG00000168646 chr17:65538247-65538247;C/G missense_variant False AXIN2@p.E819Q 1 0.044642857 ENSG00000168646 chr17:65530053-65530053;C/G missense_variant False AXIN2@p.G321R 1 0.092307692 ENSG00000168646 chr17:65541553-65541553;C/T missense_variant False AXIN2@p.G546D 1 0.076923077 ENSG00000168646 chr17:65537399-65537399;C/T missense_variant False AXIN2@p.H284Y 1 0.214285714 ENSG00000168646 chr17:65549626-65549626;G/A missense_variant False AXIN2@p.M120I 1 0.513157895 ENSG00000168646 chr17:65558261-65558261;C/A missense_variant False AXIN2@p.M314I 1 0.181818182 ENSG00000168646 chr17:65549534-65549534;C/T missense_variant False AXIN2@p.R158T 1 0.151785714 ENSG00000168646 chr17:65558148-65558148;C/G missense_variant False AXIN2@p.R574K 1 0.451612903 ENSG00000168646 chr17:65537055-65537055;C/T missense_variant False AXIN2@p.R702C 1 0.222222222 ENSG00000168646 chr17:65536357-65536357;G/A missense_variant False AXIN2@p.T673N 1 0.217391304 ENSG00000168646 chr17:65536443-65536443;G/T missense_variant False B3GAT2@p.Q94H 1 0.350877193 ENSG00000112309 chr6:70956148-70956148;C/G missense_variant False B3GNT2@p.D136H 1 0.148734177 ENSG00000170340 chr2:62222626-62222626;G/C missense_variant False AWAT1@p.F250L 1 0.5 ENSG00000204195 chrX:70239852-70239852;C/G missense_variant False B4GALT3@p.D294H 1 0.441176471 ENSG00000158850 chr1:161172255-161172255;C/G missense_variant False B4GALT4@p.R227C 1 0.5375 ENSG00000121578 chr3:119218768-119218768;G/A missense_variant False B4GALT4@p.Q39E 1 0.381443299 ENSG00000121578 chr3:119229985-119229985;G/C missense_variant False B4GALT4@p.D196E 1 0.177777778 ENSG00000121578 chr3:119224144-119224144;G/T missense_variant False B4GALT3@p.R122C 1 0.455882353 ENSG00000158850 chr1:161175118-161175118;G/A missense_variant False B4GALT3@p.M221I 1 0.105882353 ENSG00000158850 chr1:161173876-161173876;C/T missense_variant False B4GALT3@p.H131Y 1 0.172413793 ENSG00000158850 chr1:161175091-161175091;G/A missense_variant False B4GALT1@p.V119E 1 0.4 ENSG00000086062 chr9:33166814-33166814;A/T missense_variant False B4GALNT3@p.Q572L 1 0.484375 ENSG00000139044 chr12:553638-553638;A/T missense_variant False B4GALT1@p.S247G 1 0.421686747 ENSG00000086062 chr9:33120516-33120516;T/C missense_variant False B4GALT1@p.R339L 1 0.194805195 ENSG00000086062 chr9:33113822-33113822;C/A missense_variant False B4GALNT4@p.R240Q 1 0.56122449 ENSG00000182272 chr11:373764-373764;G/A missense_variant False B4GALNT4@p.G852R 1 0.243902439 ENSG00000182272 chr11:379931-379931;G/A missense_variant False B4GALNT4@p.E983K 1 0.172413793 ENSG00000182272 chr11:380902-380902;G/A missense_variant False B4GALNT4@p.E1006D 1 0.615384615 ENSG00000182272 chr11:381690-381690;G/T missense_variant False B4GALT6@p.H323D 1 0.741935484 ENSG00000118276 chr18:31626317-31626317;G/C missense_variant False B4GALT7@p.L190R 1 0.18 ENSG00000027847 chr5:177607457-177607457;T/G missense_variant False B4GALT7@p.T254I 1 0.409090909 ENSG00000027847 chr5:177608947-177608947;C/T missense_variant False B4GAT1@p.D169N 1 0.173913043 ENSG00000174684 chr11:66347041-66347041;C/T missense_variant False B4GAT1@p.E389K 1 0.352173913 ENSG00000174684 chr11:66346132-66346132;C/T missense_variant False B4GAT1@p.F11L 1 0.428571429 ENSG00000174684 chr11:66347513-66347513;G/C missense_variant False B4GAT1@p.K394N 1 0.134328358 ENSG00000174684 chr11:66346115-66346115;C/G missense_variant False B9D1@p.R101Q 1 0.169811321 ENSG00000108641 chr17:19347823-19347823;C/T missense_variant False B9D2@p.G155S 1 0.338028169 ENSG00000123810 chr19:41354765-41354765;C/T missense_variant False B9D2@p.Q50H 1 0.292134831 ENSG00000123810 chr19:41357961-41357961;C/G missense_variant False BAAT@p.D14H 1 0.425925926 ENSG00000136881 chr9:101371365-101371365;C/G missense_variant False BAAT@p.D413H 1 0.147058824 ENSG00000136881 chr9:101362448-101362448;C/G missense_variant False BAAT@p.E111Q 1 0.066666667 ENSG00000136881 chr9:101371074-101371074;C/G missense_variant False BAAT@p.R201C 1 0.25974026 ENSG00000136881 chr9:101368188-101368188;G/A missense_variant False BABAM1@p.E200Q 1 0.416666667 ENSG00000269307 chr19:17276523-17276523;G/C missense_variant False BABAM1@p.E5Q 1 0.466666667 ENSG00000269307 chr19:17268819-17268819;G/C missense_variant False BABAM2@p.E119K 1 0.346153846 ENSG00000158019 chr2:28025280-28025280;G/A missense_variant False B4GALNT3@p.R577K 1 0.425 ENSG00000139044 chr12:553653-553653;G/A missense_variant False B4GALNT3@p.Q543R 1 0.631578947 ENSG00000139044 chr12:553551-553551;A/G missense_variant False B3GNT2@p.D99H 1 0.137681159 ENSG00000170340 chr2:62222515-62222515;G/C missense_variant False B3GNT5@p.D102N 1 0.058823529 ENSG00000176597 chr3:183270102-183270102;G/A missense_variant False B3GNT7@p.C230R 1 0.208333333 ENSG00000156966 chr2:231398407-231398407;T/C missense_variant False B3GNT5@p.S63F 1 0.210526316 ENSG00000176597 chr3:183269986-183269986;C/T missense_variant False B3GNT5@p.R108T 1 0.358024691 ENSG00000176597 chr3:183270121-183270121;G/C missense_variant False B3GNT5@p.M190I 1 0.066666667 ENSG00000176597 chr3:183270368-183270368;G/C missense_variant False B3GNT5@p.L64F 1 0.214285714 ENSG00000176597 chr3:183269988-183269988;C/T missense_variant False B3GNT5@p.K334N 1 0.12195122 ENSG00000176597 chr3:183270800-183270800;G/C missense_variant False B3GNT4@p.S7A 1 0.205128205 ENSG00000176383 chr12:122204637-122204637;T/G missense_variant False B4GALNT3@p.P360S 1 0.32173913 ENSG00000139044 chr12:551002-551002;C/T missense_variant False B3GNT4@p.S265T 1 0.576271186 ENSG00000176383 chr12:122207044-122207044;T/A missense_variant False B3GNT4@p.R92H 1 0.857142857 ENSG00000176383 chr12:122206526-122206526;G/A missense_variant False B3GNT4@p.A25E 1 0.3125 ENSG00000176383 chr12:122206325-122206325;C/A missense_variant False B3GNT2@p.I161V 1 0.369047619 ENSG00000170340 chr2:62222701-62222701;A/G missense_variant False B3GNT2@p.F200S 1 0.216216216 ENSG00000170340 chr2:62222819-62222819;T/C missense_variant False B3GNT2@p.F116Y 1 0.357142857 ENSG00000170340 chr2:62222567-62222567;T/A missense_variant False B3GNT7@p.P295S 1 0.133333333 ENSG00000156966 chr2:231398602-231398602;C/T missense_variant False B3GNT8@p.F219L 1 0.111111111 ENSG00000177191 chr19:41426122-41426122;G/C missense_variant False B3GNT8@p.G133A 1 0.375 ENSG00000177191 chr19:41426381-41426381;C/G missense_variant False B3GNT8@p.R168T 1 0.341772152 ENSG00000177191 chr19:41426276-41426276;C/G missense_variant False B3GNT9@p.L212V 1 0.173913043 ENSG00000237172 chr16:67149852-67149852;G/C missense_variant False B3GNT9@p.L319V 1 0.35 ENSG00000237172 chr16:67149531-67149531;G/C missense_variant False B3GNTL1@p.C110W 1 0.201754386 ENSG00000175711 chr17:83035047-83035047;G/C missense_variant False B3GNTL1@p.S58G 1 0.5 ENSG00000175711 chr17:83048674-83048674;T/C missense_variant False B4GALNT1@p.L89F 1 0.428571429 ENSG00000135454 chr12:57631318-57631318;G/A missense_variant False B4GALNT2@p.A95T 1 0.229813665 ENSG00000167080 chr17:49141335-49141335;G/A missense_variant False B4GALNT2@p.H451Y 1 0.46969697 ENSG00000167080 chr17:49168756-49168756;C/T missense_variant False B4GALNT2@p.L269V 1 0.152284264 ENSG00000167080 chr17:49159163-49159163;C/G missense_variant False B4GALNT2@p.R332C 1 0.493055556 ENSG00000167080 chr17:49164135-49164135;C/T missense_variant False B4GALNT3@p.D629H 1 0.13740458 ENSG00000139044 chr12:553808-553808;G/C missense_variant False B4GALNT3@p.E421K 1 0.226666667 ENSG00000139044 chr12:552519-552519;G/A missense_variant False B4GALNT3@p.E426Q 1 0.455782313 ENSG00000139044 chr12:553199-553199;G/C missense_variant False B4GALNT3@p.N109S 1 0.128205128 ENSG00000139044 chr12:536270-536270;A/G missense_variant False AWAT2@p.C190S 1 0.307692308 ENSG00000147160 chrX:70043148-70043148;A/T missense_variant False AVPR2@p.R337Q 1 0.238095238 ENSG00000126895 chrX:153906622-153906622;G/A missense_variant False ATR@p.K2310N 1 0.144927536 ENSG00000175054 chr3:142465208-142465208;C/G missense_variant False ATRX@p.L2266F 1 0.679389313 ENSG00000085224 chrX:77523303-77523303;C/G missense_variant True ATRX@p.S1061C 1 0.116666667 ENSG00000085224 chrX:77682074-77682074;G/C missense_variant True ATRX@p.R1190K 1 0.886363636 ENSG00000085224 chrX:77681687-77681687;C/T missense_variant True ATRX@p.Q1691E 1 0.570957096 ENSG00000085224 chrX:77633270-77633270;G/C missense_variant True ATRX@p.Q1319E 1 0.555555556 ENSG00000085224 chrX:77663547-77663547;G/C missense_variant True ATRX@p.N1975T 1 0.079872204 ENSG00000085224 chrX:77599443-77599443;T/G missense_variant True ATRX@p.L2350V 1 0.148648649 ENSG00000085224 chrX:77521426-77521426;G/C missense_variant True ATRX@p.K319N 1 0.115789474 ENSG00000085224 chrX:77684299-77684299;C/G missense_variant True ATRX@p.C2404S 1 0.427152318 ENSG00000085224 chrX:77508619-77508619;C/G missense_variant True ATRX@p.I574V 1 0.056521739 ENSG00000085224 chrX:77683536-77683536;T/C missense_variant True ATRX@p.I402T 1 0.82962963 ENSG00000085224 chrX:77684051-77684051;A/G missense_variant True ATRX@p.I2175T 1 0.263888889 ENSG00000085224 chrX:77557626-77557626;A/G missense_variant True ATRX@p.H406D 1 0.458100559 ENSG00000085224 chrX:77684040-77684040;G/C missense_variant True ATRX@p.E733K 1 0.904494382 ENSG00000085224 chrX:77683059-77683059;C/T missense_variant True ATRX@p.D906N 1 0.137931034 ENSG00000085224 chrX:77682540-77682540;C/T missense_variant True ATRX@p.S2138F 1 0.662162162 ENSG00000085224 chrX:77558760-77558760;G/A missense_variant True ATRX@p.S381L 1 0.325471698 ENSG00000085224 chrX:77684114-77684114;G/A missense_variant True ATXN1@p.E310K 1 0.138461538 ENSG00000124788 chr6:16327383-16327383;C/T missense_variant False ATXN1@p.G476S 1 0.23 ENSG00000124788 chr6:16326885-16326885;C/T missense_variant False ATXN1@p.H423Y 1 0.467836257 ENSG00000124788 chr6:16327044-16327044;G/A missense_variant False ATXN1@p.L793V 1 0.142857143 ENSG00000124788 chr6:16306400-16306400;G/C missense_variant False ATXN1@p.P302L 1 0.15 ENSG00000124788 chr6:16327406-16327406;G/A missense_variant False ATXN2@p.D542H 1 0.206349206 ENSG00000204842 chr12:111518270-111518270;C/G missense_variant False ATXN2@p.Q886E 1 0.321428571 ENSG00000204842 chr12:111488540-111488540;G/C missense_variant False ATXN2@p.R682T 1 0.220720721 ENSG00000204842 chr12:111510576-111510576;C/G missense_variant False ATXN2@p.S669L 1 0.358490566 ENSG00000204842 chr12:111513389-111513389;G/A missense_variant False ATXN2L@p.D1043N 1 0.528 ENSG00000168488 chr16:28836164-28836164;G/A missense_variant False ATXN2L@p.D605N 1 0.52027027 ENSG00000168488 chr16:28833212-28833212;G/A missense_variant False ATXN2L@p.E324Q 1 0.425 ENSG00000168488 chr16:28829994-28829994;G/C missense_variant False ATXN2L@p.E513K 1 0.131428571 ENSG00000168488 chr16:28832516-28832516;G/A missense_variant False ATXN2L@p.K411E 1 0.444444444 ENSG00000168488 chr16:28830982-28830982;A/G missense_variant False ATXN2L@p.Q555K 1 0.342857143 ENSG00000168488 chr16:28833062-28833062;C/A missense_variant False ATRX@p.D1261N 1 0.211009174 ENSG00000085224 chrX:77676254-77676254;C/T missense_variant True ATRNL1@p.Y482F 1 0.194444444 ENSG00000107518 chr10:115215793-115215793;A/T missense_variant False ATXN2L@p.S1019L 1 0.187969925 ENSG00000168488 chr16:28836093-28836093;C/T missense_variant False ATR@p.Q1755E 1 0.377777778 ENSG00000175054 chr3:142503387-142503387;G/C missense_variant False ATR@p.S1583C 1 0.052631579 ENSG00000175054 chr3:142512364-142512364;G/C missense_variant False ATR@p.R2363Q 1 0.43902439 ENSG00000175054 chr3:142462044-142462044;C/T missense_variant False ATR@p.Q414H 1 0.486842105 ENSG00000175054 chr3:142561350-142561350;T/G missense_variant False ATR@p.Q2635H 1 0.150537634 ENSG00000175054 chr3:142449459-142449459;C/G missense_variant False ATR@p.Q1926H 1 0.457831325 ENSG00000175054 chr3:142496481-142496481;C/G missense_variant False ATR@p.Q1755K 1 0.285714286 ENSG00000175054 chr3:142503387-142503387;G/T missense_variant False ATR@p.P2135S 1 0.111111111 ENSG00000175054 chr3:142469486-142469486;G/A missense_variant False ATRNL1@p.S721I 1 0.150537634 ENSG00000107518 chr10:115281416-115281416;G/T missense_variant False ATR@p.P13L 1 0.52 ENSG00000175054 chr3:142578667-142578667;G/A missense_variant False ATR@p.M2179V 1 0.194690265 ENSG00000175054 chr3:142469354-142469354;T/C missense_variant False ATR@p.M1174I 1 0.2 ENSG00000175054 chr3:142540963-142540963;C/A missense_variant False ATR@p.L2093V 1 0.133333333 ENSG00000175054 chr3:142470128-142470128;G/C missense_variant False ATR@p.L1944F 1 0.215686275 ENSG00000175054 chr3:142496429-142496429;G/A missense_variant False ATR@p.L1528F 1 0.134615385 ENSG00000175054 chr3:142513560-142513560;G/A missense_variant False ATR@p.S902F 1 0.25 ENSG00000175054 chr3:142553327-142553327;G/A missense_variant False ATR@p.Y2457S 1 0.289473684 ENSG00000175054 chr3:142459091-142459091;T/G missense_variant False ATRIP@p.A505D 1 0.266666667 ENSG00000164053 chr3:48460568-48460568;C/A missense_variant False ATRIP@p.E402Q 1 0.151260504 ENSG00000164053 chr3:48460258-48460258;G/C missense_variant False ATRIP@p.P786A 1 0.333333333 ENSG00000164053 chr3:48465534-48465534;C/G missense_variant False ATRIP@p.R284K 1 0.166666667 ENSG00000164053 chr3:48459380-48459380;G/A missense_variant False ATRN@p.D871N 1 0.115702479 ENSG00000088812 chr20:3582201-3582201;G/A missense_variant False ATRN@p.E180K 1 0.058823529 ENSG00000088812 chr20:3540265-3540265;G/A missense_variant False ATRN@p.Q957R 1 0.232258065 ENSG00000088812 chr20:3584003-3584003;A/G missense_variant False ATRN@p.R536Q 1 0.259259259 ENSG00000088812 chr20:3562435-3562435;G/A missense_variant False ATRNL1@p.E798K 1 0.338842975 ENSG00000107518 chr10:115286374-115286374;G/A missense_variant False ATRNL1@p.F1323C 1 0.32038835 ENSG00000107518 chr10:115847941-115847941;T/G missense_variant False ATRNL1@p.G1376E 1 0.12605042 ENSG00000107518 chr10:115944766-115944766;G/A missense_variant False ATRNL1@p.G630R 1 0.127118644 ENSG00000107518 chr10:115266912-115266912;G/A missense_variant False ATRNL1@p.H258Y 1 0.127272727 ENSG00000107518 chr10:115129478-115129478;C/T missense_variant False ATRNL1@p.I481T 1 0.23255814 ENSG00000107518 chr10:115215790-115215790;T/C missense_variant False ATRNL1@p.S341N 1 0.277777778 ENSG00000107518 chr10:115165575-115165575;G/A missense_variant False ATXN2L@p.R382C 1 0.463414634 ENSG00000168488 chr16:28830724-28830724;C/T missense_variant False ATXN2L@p.S211L 1 0.075 ENSG00000168488 chr16:28826877-28826877;C/T missense_variant False AVPR2@p.C341F 1 0.160493827 ENSG00000126895 chrX:153906634-153906634;G/T missense_variant False AUTS2@p.L108R 1 0.222222222 ENSG00000158321 chr7:69899299-69899299;T/G missense_variant False AUTS2@p.R901C 1 0.342105263 ENSG00000158321 chr7:70789917-70789917;C/T missense_variant False AUTS2@p.R1087K 1 0.176470588 ENSG00000158321 chr7:70790476-70790476;G/A missense_variant False AUTS2@p.R1086W 1 0.307692308 ENSG00000158321 chr7:70790472-70790472;C/T missense_variant False AUTS2@p.Q357K 1 0.144927536 ENSG00000158321 chr7:70763196-70763196;C/A missense_variant False AUTS2@p.P729A 1 0.2 ENSG00000158321 chr7:70784980-70784980;C/G missense_variant False AUTS2@p.P320S 1 0.645833333 ENSG00000158321 chr7:70763085-70763085;C/T missense_variant False AUTS2@p.F712L 1 0.25443787 ENSG00000158321 chr7:70781746-70781746;C/G missense_variant False AURKB@p.I259T 1 0.230769231 ENSG00000178999 chr17:8205301-8205301;A/G missense_variant False AUTS2@p.E685Q 1 0.049773756 ENSG00000158321 chr7:70781663-70781663;G/C missense_variant False AUTS2@p.E523K 1 0.261538462 ENSG00000158321 chr7:70766212-70766212;G/A missense_variant False AUTS2@p.E193K 1 0.4375 ENSG00000158321 chr7:70118186-70118186;G/A missense_variant False AURKC@p.V162L 1 0.482142857 ENSG00000105146 chr19:57233508-57233508;G/C missense_variant False AURKC@p.R281I 1 0.56 ENSG00000105146 chr19:57235329-57235329;G/T missense_variant False AURKC@p.L194Q 1 0.154255319 ENSG00000105146 chr19:57233605-57233605;T/A missense_variant False AUTS2@p.S235I 1 0.181818182 ENSG00000158321 chr7:70698582-70698582;G/T missense_variant False AUTS2@p.S383C 1 0.103703704 ENSG00000158321 chr7:70763275-70763275;C/G missense_variant False AVIL@p.L272V 1 0.428571429 ENSG00000135407 chr12:57809838-57809838;G/C missense_variant False AVIL@p.R230H 1 0.132075472 ENSG00000135407 chr12:57810421-57810421;C/T missense_variant False AVL9@p.E52K 1 0.209150327 ENSG00000105778 chr7:32543201-32543201;G/A missense_variant False AVL9@p.L205V 1 0.152777778 ENSG00000105778 chr7:32558562-32558562;C/G missense_variant False AVL9@p.L39P 1 0.786610879 ENSG00000105778 chr7:32543163-32543163;T/C missense_variant False AVL9@p.M291I 1 0.4 ENSG00000105778 chr7:32559122-32559122;G/A missense_variant False AVL9@p.Q638R 1 0.471698113 ENSG00000105778 chr7:32583873-32583873;A/G missense_variant False AVL9@p.S254T 1 0.272727273 ENSG00000105778 chr7:32559010-32559010;G/C missense_variant False AVPI1@p.S102F 1 0.631578947 ENSG00000119986 chr10:97678008-97678008;G/A missense_variant False AVPR1A@p.E54G 1 0.166666667 ENSG00000166148 chr12:63150676-63150676;T/C missense_variant False AVPR1A@p.P184T 1 0.136842105 ENSG00000166148 chr12:63150287-63150287;G/T missense_variant False AVPR1A@p.Q361E 1 0.165714286 ENSG00000166148 chr12:63147535-63147535;G/C missense_variant False AVPR1B@p.R265W 1 0.3 ENSG00000198049 chr1:206116098-206116098;G/A missense_variant False AVPR1B@p.S18C 1 0.170294494 ENSG00000198049 chr1:206116838-206116838;G/C missense_variant False AVPR2@p.A264V 1 0.5 ENSG00000126895 chrX:153906297-153906297;C/T missense_variant False AURKC@p.E240Q 1 0.364705882 ENSG00000105146 chr19:57235017-57235017;G/C missense_variant False AURKB@p.E78Q 1 0.347826087 ENSG00000178999 chr17:8207342-8207342;C/G missense_variant False ATXN3@p.E109K 1 0.357142857 ENSG00000066427 chr14:92093314-92093314;C/T missense_variant False ATXN7@p.R891H 1 0.354166667 ENSG00000163635 chr3:63999460-63999460;G/A missense_variant False ATXN7L2@p.S664C 1 0.24137931 ENSG00000162650 chr1:109491554-109491554;C/G missense_variant False ATXN7L2@p.R445Q 1 0.125 ENSG00000162650 chr1:109490368-109490368;G/A missense_variant False ATXN7L2@p.E352K 1 0.399141631 ENSG00000162650 chr1:109489946-109489946;G/A missense_variant False ATXN7L2@p.D76N 1 0.35 ENSG00000162650 chr1:109486538-109486538;G/A missense_variant False ATXN7L1@p.L43V 1 0.322580645 ENSG00000146776 chr7:105876432-105876432;G/C missense_variant False ATXN7L1@p.I8M 1 0.113924051 ENSG00000146776 chr7:105876535-105876535;G/C missense_variant False ATXN7@p.R339T 1 0.263157895 ENSG00000163635 chr3:63982942-63982942;G/C missense_variant False AURKAIP1@p.S39T 1 0.444444444 ENSG00000175756 chr1:1374382-1374382;C/G missense_variant False ATXN7@p.D537H 1 0.237288136 ENSG00000163635 chr3:63990786-63990786;G/C missense_variant False ATXN3L@p.P140T 1 0.615384615 ENSG00000123594 chrX:13319517-13319517;G/T missense_variant False ATXN3@p.L148V 1 0.462783172 ENSG00000066427 chr14:92088763-92088763;G/C missense_variant False ATXN3@p.G73V 1 0.402298851 ENSG00000066427 chr14:92096109-92096109;C/A missense_variant False ATXN3@p.E98Q 1 0.182926829 ENSG00000066427 chr14:92093774-92093774;C/G missense_variant False ATXN3@p.E32K 1 0.208791209 ENSG00000066427 chr14:92096769-92096769;C/T missense_variant False ATXN7L2@p.T330I 1 0.756302521 ENSG00000162650 chr1:109489052-109489052;C/T missense_variant False ATXN7L3@p.E130K 1 0.405660377 ENSG00000087152 chr17:44196995-44196995;C/T missense_variant False ATXN7L3@p.E130Q 1 0.208 ENSG00000087152 chr17:44196995-44196995;C/G missense_variant False ATXN7L3@p.E38K 1 0.120253165 ENSG00000087152 chr17:44197670-44197670;C/T missense_variant False ATXN7L3@p.F76L 1 0.104761905 ENSG00000087152 chr17:44197356-44197356;G/T missense_variant False ATXN7L3@p.S203T 1 0.088235294 ENSG00000087152 chr17:44195432-44195432;C/G missense_variant False AUH@p.L107V 1 0.166666667 ENSG00000148090 chr9:91356099-91356099;G/C missense_variant False AUNIP@p.G332R 1 0.060897436 ENSG00000127423 chr1:25835073-25835073;C/T missense_variant False AUNIP@p.K45Lfs*58 1 0.666666667 ENSG00000127423 chr1:25837498-25837501;CTTT/- frameshift_variant False AUP1@p.D294N 1 0.181818182 ENSG00000115307 chr2:74527552-74527552;C/T missense_variant False AUP1@p.E251G 1 0.168478261 ENSG00000115307 chr2:74527825-74527825;T/C missense_variant False AUP1@p.E408Q 1 0.354166667 ENSG00000115307 chr2:74526811-74526811;C/G missense_variant False AUP1@p.K143N 1 0.288 ENSG00000115307 chr2:74528846-74528846;C/G missense_variant False AUP1@p.L328F 1 0.341463415 ENSG00000115307 chr2:74527341-74527341;C/G missense_variant False AUP1@p.P217R 1 0.15 ENSG00000115307 chr2:74528269-74528269;G/C missense_variant False AURKA@p.K250N 1 0.06626506 ENSG00000087586 chr20:56373512-56373512;C/G missense_variant False AURKA@p.L323F 1 0.267716535 ENSG00000087586 chr20:56370545-56370545;T/G missense_variant False DYRK1A@p.M217I 1 0.333333333 ENSG00000157540 chr21:37486601-37486601;G/C missense_variant False DYRK1A@p.M370I 1 0.098039216 ENSG00000157540 chr21:37496129-37496129;G/T missense_variant False DYRK1A@p.N677Y 1 0.042253521 ENSG00000157540 chr21:37512268-37512268;A/T missense_variant False KCNH4@p.G405S 1 0.45 ENSG00000089558 chr17:42170284-42170284;C/T missense_variant False KCNH5@p.D848H 1 0.100628931 ENSG00000140015 chr14:62707933-62707933;C/G missense_variant False KCNH4@p.S215F 1 0.48 ENSG00000089558 chr17:42176239-42176239;G/A missense_variant False KCNH4@p.Q809E 1 0.263157895 ENSG00000089558 chr17:42163658-42163658;G/C missense_variant False KCNH4@p.P670S 1 0.192982456 ENSG00000089558 chr17:42165526-42165526;G/A missense_variant False KCNH4@p.P626L 1 0.253012048 ENSG00000089558 chr17:42165657-42165657;G/A missense_variant False KCNH4@p.H796Y 1 0.25 ENSG00000089558 chr17:42163697-42163697;G/A missense_variant False KCNH4@p.F238L 1 0.417475728 ENSG00000089558 chr17:42176169-42176169;G/C missense_variant False KCNH5@p.E916K 1 0.44 ENSG00000140015 chr14:62707729-62707729;C/T missense_variant False KCNH4@p.E352Q 1 0.424242424 ENSG00000089558 chr17:42171929-42171929;C/G missense_variant False KCNH3@p.T604M 1 0.161290323 ENSG00000135519 chr12:49550222-49550222;C/T missense_variant False KCNH3@p.R920W 1 0.133333333 ENSG00000135519 chr12:49557459-49557459;C/T missense_variant False KCNH3@p.R652W 1 0.2 ENSG00000135519 chr12:49554372-49554372;C/T missense_variant False KCNH3@p.Q11H 1 0.444444444 ENSG00000135519 chr12:49539449-49539449;G/T missense_variant False KCNH3@p.I552M 1 0.185185185 ENSG00000135519 chr12:49549628-49549628;C/G missense_variant False KCNH5@p.E79Q 1 0.154761905 ENSG00000140015 chr14:63006435-63006435;C/G missense_variant False KCNH5@p.G412E 1 0.086419753 ENSG00000140015 chr14:62950267-62950267;C/T missense_variant False KCNJ3@p.Q34E 1 0.102564103 ENSG00000162989 chr2:154698875-154698875;C/G missense_variant False KCNH6@p.E395K 1 0.435897436 ENSG00000173826 chr17:63535750-63535750;G/A missense_variant False KCNH6@p.L949V 1 0.081967213 ENSG00000173826 chr17:63545762-63545762;C/G missense_variant False KCNH6@p.I360M 1 0.255102041 ENSG00000173826 chr17:63534290-63534290;C/G missense_variant False KCNH6@p.G990E 1 0.234567901 ENSG00000173826 chr17:63545886-63545886;G/A missense_variant False KCNH6@p.F610L 1 0.5 ENSG00000173826 chr17:63538538-63538538;C/G missense_variant False KCNH6@p.E939Q 1 0.070588235 ENSG00000173826 chr17:63545732-63545732;G/C missense_variant False KCNH6@p.E90Q 1 0.12 ENSG00000173826 chr17:63524330-63524330;G/C missense_variant False KCNH6@p.D67V 1 0.3 ENSG00000173826 chr17:63524262-63524262;A/T missense_variant False KCNH5@p.L423V 1 0.260869565 ENSG00000140015 chr14:62950235-62950235;G/C missense_variant False KCNH6@p.D304H 1 0.12 ENSG00000173826 chr17:63534120-63534120;G/C missense_variant False KCNH5@p.Y373H 1 0.304761905 ENSG00000140015 chr14:62950385-62950385;A/G missense_variant False KCNH5@p.P953A 1 0.077464789 ENSG00000140015 chr14:62707618-62707618;G/C missense_variant False KCNH5@p.P800Q 1 0.038277512 ENSG00000140015 chr14:62708076-62708076;G/T missense_variant False KCNH5@p.M782T 1 0.185185185 ENSG00000140015 chr14:62708130-62708130;A/G missense_variant False KCNH5@p.M68L 1 0.224137931 ENSG00000140015 chr14:63006468-63006468;T/A missense_variant False KCNH3@p.G632V 1 0.196721311 ENSG00000135519 chr12:49550306-49550306;G/T missense_variant False KCNH3@p.D47H 1 0.245901639 ENSG00000135519 chr12:49540961-49540961;G/C missense_variant False KCNH3@p.A921V 1 0.153846154 ENSG00000135519 chr12:49557463-49557463;C/T missense_variant False KCNE1@p.S28L 1 0.245283019 ENSG00000180509 chr21:34449552-34449552;G/A missense_variant False KCNF1@p.E213K 1 0.458333333 ENSG00000162975 chr2:10913063-10913063;G/A missense_variant False KCNF1@p.E206A 1 0.276595745 ENSG00000162975 chr2:10913043-10913043;A/C missense_variant False KCNE3@p.T7M 1 0.133333333 ENSG00000175538 chr11:74457544-74457544;G/A missense_variant False KCNE3@p.S101F 1 0.148148148 ENSG00000175538 chr11:74457262-74457262;G/A missense_variant False KCNE2@p.Y22S 1 0.058333333 ENSG00000159197 chr21:34370543-34370543;A/C missense_variant False KCNE2@p.E90Q 1 0.24137931 ENSG00000159197 chr21:34370746-34370746;G/C missense_variant False KCND3@p.P125L 1 0.065359477 ENSG00000171385 chr1:111982353-111982353;G/A missense_variant False KCNH3@p.A314V 1 0.09375 ENSG00000135519 chr12:49544032-49544032;C/T missense_variant False KCND3@p.I505M 1 0.41025641 ENSG00000171385 chr1:111778439-111778439;G/C missense_variant False KCND3@p.G345D 1 0.567901235 ENSG00000171385 chr1:111981693-111981693;C/T missense_variant False KCND3@p.E626Q 1 0.244897959 ENSG00000171385 chr1:111776169-111776169;C/G missense_variant False KCND2@p.R100H 1 0.449438202 ENSG00000184408 chr7:120274931-120274931;G/A missense_variant False KCND2@p.R100C 1 0.631578947 ENSG00000184408 chr7:120274930-120274930;C/T missense_variant False KCND2@p.N510S 1 0.352941176 ENSG00000184408 chr7:120745841-120745841;A/G missense_variant False KCNF1@p.I294M 1 0.266666667 ENSG00000162975 chr2:10913308-10913308;C/G missense_variant False KCNF1@p.R417H 1 0.128571429 ENSG00000162975 chr2:10913676-10913676;G/A missense_variant False KCNG1@p.E178D 1 0.15 ENSG00000026559 chr20:51009805-51009805;C/G missense_variant False KCNG1@p.R167H 1 0.151658768 ENSG00000026559 chr20:51009839-51009839;C/T missense_variant False KCNG2@p.A180T 1 0.55 ENSG00000178342 chr18:79864205-79864205;G/A missense_variant False KCNG2@p.E426K 1 0.5 ENSG00000178342 chr18:79899691-79899691;G/A missense_variant False KCNG3@p.A201S 1 0.29787234 ENSG00000171126 chr2:42492901-42492901;C/A missense_variant False KCNG4@p.D103N 1 0.081081081 ENSG00000168418 chr16:84237179-84237179;C/T missense_variant False KCNG4@p.Y307C 1 0.227272727 ENSG00000168418 chr16:84222857-84222857;T/C missense_variant False KCNH1@p.L227V 1 0.090909091 ENSG00000143473 chr1:211019136-211019136;A/C missense_variant False KCNH1@p.S160R 1 0.380952381 ENSG00000143473 chr1:211082858-211082858;G/T missense_variant False KCNH1@p.S617R 1 0.166666667 ENSG00000143473 chr1:210797572-210797572;G/T missense_variant False KCNH1@p.T457I 1 0.238095238 ENSG00000143473 chr1:210919732-210919732;G/A missense_variant False KCNH2@p.A614V 1 0.111111111 ENSG00000055118 chr7:150951552-150951552;G/A missense_variant False KCNH2@p.E788D 1 0.432098765 ENSG00000055118 chr7:150950202-150950202;C/A missense_variant False KCNH2@p.P1084Gfs*168 1 0.428571429 ENSG00000055118 chr7:150946946-150946957;GCCAGGCCCCGG/CC frameshift_variant False KCNH2@p.P1149S 1 0.2 ENSG00000055118 chr7:150945400-150945400;G/A missense_variant False KCNH7@p.C44S 1 0.22972973 ENSG00000184611 chr2:162836714-162836714;A/T missense_variant False KCNH7@p.E443Q 1 0.414285714 ENSG00000184611 chr2:162446245-162446245;C/G missense_variant False KCNH7@p.I1097M 1 0.307692308 ENSG00000184611 chr2:162373503-162373503;G/C missense_variant False KCNJ15@p.C107Y 1 0.288288288 ENSG00000157551 chr21:38299581-38299581;G/A missense_variant False KCNJ16@p.D274V 1 0.164634146 ENSG00000153822 chr17:70132908-70132908;A/T missense_variant False KCNJ16@p.A272Rfs*4 1 0.078431373 ENSG00000153822 chr17:70132899-70132914;TAGCCAAAGATAACTT/- frameshift_variant False KCNJ15@p.V75M 1 0.076923077 ENSG00000157551 chr21:38299484-38299484;G/A missense_variant False KCNJ15@p.S113F 1 0.318181818 ENSG00000157551 chr21:38299599-38299599;C/T missense_variant False KCNJ15@p.M202I 1 0.117647059 ENSG00000157551 chr21:38299867-38299867;G/A missense_variant False KCNJ15@p.F330_E331dup 1 0.272727273 ENSG00000157551 chr21:38300246-38300247;-/AGTTTG inframe_insertion False KCNJ14@p.S379Y 1 0.216666667 ENSG00000182324 chr19:48464602-48464602;C/A missense_variant False KCNJ12@p.Y338N 1 0.571428571 ENSG00000184185 chr17:21416354-21416354;T/A missense_variant False KCNJ14@p.L396V 1 0.381578947 ENSG00000182324 chr19:48464652-48464652;C/G missense_variant False KCNJ14@p.G67S 1 0.620689655 ENSG00000182324 chr19:48461923-48461923;G/A missense_variant False KCNJ14@p.E371Q 1 0.218390805 ENSG00000182324 chr19:48464577-48464577;G/C missense_variant False KCNJ14@p.E354K 1 0.314285714 ENSG00000182324 chr19:48464526-48464526;G/A missense_variant False KCNJ13@p.Q312E 1 0.892857143 ENSG00000115474 chr2:232768340-232768340;G/C missense_variant False KCNJ13@p.I152M 1 0.230769231 ENSG00000115474 chr2:232770907-232770907;G/C missense_variant False KCNJ16@p.F184L 1 0.291666667 ENSG00000153822 chr17:70132639-70132639;C/G missense_variant False KCNJ16@p.H99Y 1 0.177419355 ENSG00000153822 chr17:70132382-70132382;C/T missense_variant False KCNJ16@p.P301S 1 0.330188679 ENSG00000153822 chr17:70132988-70132988;C/T missense_variant False KCNJ16@p.S144Y 1 0.353846154 ENSG00000153822 chr17:70132518-70132518;C/A missense_variant False KCNJ16@p.S392F 1 0.086956522 ENSG00000153822 chr17:70133262-70133262;C/T missense_variant False KCNJ1@p.A103S 1 0.254901961 ENSG00000151704 chr11:128839994-128839994;C/A missense_variant False KCNJ1@p.F173L 1 0.422222222 ENSG00000151704 chr11:128839782-128839782;G/C missense_variant False KCNJ1@p.H354D 1 0.965517241 ENSG00000151704 chr11:128839241-128839241;G/C missense_variant False KCNJ1@p.L287F 1 0.509615385 ENSG00000151704 chr11:128839442-128839442;G/A missense_variant False KCNJ2@p.D78G 1 0.164179104 ENSG00000123700 chr17:70175272-70175272;A/G missense_variant False KCNJ2@p.E424K 1 0.094017094 ENSG00000123700 chr17:70176309-70176309;G/A missense_variant False KCNJ2@p.E63G 1 0.08411215 ENSG00000123700 chr17:70175227-70175227;A/G missense_variant False KCNJ2@p.F73L 1 0.208955224 ENSG00000123700 chr17:70175258-70175258;C/A missense_variant False KCNJ2@p.H335Q 1 0.173469388 ENSG00000123700 chr17:70176044-70176044;C/A missense_variant False KCNJ2@p.R325H 1 0.175675676 ENSG00000123700 chr17:70176013-70176013;G/A missense_variant False KCNJ2@p.S14L 1 0.46 ENSG00000123700 chr17:70175080-70175080;C/T missense_variant False KCNJ2@p.V56A 1 0.126984127 ENSG00000123700 chr17:70175206-70175206;T/C missense_variant False KCNJ13@p.D84N 1 0.576576577 ENSG00000115474 chr2:232771113-232771113;C/T missense_variant False KCNJ11@p.V244M 1 0.460674157 ENSG00000187486 chr11:17387362-17387362;C/T missense_variant False KCNH7@p.N302S 1 0.0875 ENSG00000184611 chr2:162512662-162512662;T/C missense_variant False KCNH8@p.D47Y 1 0.457013575 ENSG00000183960 chr3:19253716-19253716;G/T missense_variant False KCNH8@p.S1071C 1 0.571428571 ENSG00000183960 chr3:19533987-19533987;C/G missense_variant False KCNH8@p.S1048R 1 0.51754386 ENSG00000183960 chr3:19533917-19533917;A/C missense_variant False KCNH8@p.R334C 1 0.291666667 ENSG00000183960 chr3:19395134-19395134;C/T missense_variant False KCNH8@p.R153I 1 0.45 ENSG00000183960 chr3:19342602-19342602;G/T missense_variant False KCNH8@p.E861Q 1 0.123076923 ENSG00000183960 chr3:19518036-19518036;G/C missense_variant False KCNH8@p.E722K 1 0.319148936 ENSG00000183960 chr3:19513054-19513054;G/A missense_variant False KCNH8@p.D122N 1 0.445454545 ENSG00000183960 chr3:19281251-19281251;G/A missense_variant False KCNJ11@p.Q218H 1 0.388888889 ENSG00000187486 chr11:17387438-17387438;C/G missense_variant False KCNH7@p.V182L 1 0.397058824 ENSG00000184611 chr2:162518078-162518078;C/A missense_variant False KCNH7@p.T764N 1 0.552941176 ENSG00000184611 chr2:162400305-162400305;G/T missense_variant False KCNH7@p.R993Q 1 0.470588235 ENSG00000184611 chr2:162380006-162380006;C/T missense_variant False KCNH7@p.Q243H 1 0.434782609 ENSG00000184611 chr2:162517893-162517893;T/A missense_variant False KCNH7@p.Q1013L 1 0.25106383 ENSG00000184611 chr2:162379946-162379946;T/A missense_variant False KCNH7@p.N396K 1 0.055555556 ENSG00000184611 chr2:162446384-162446384;G/C missense_variant False KCNH8@p.S1081F 1 0.155555556 ENSG00000183960 chr3:19534017-19534017;C/T missense_variant False KCNH8@p.V915L 1 0.734177215 ENSG00000183960 chr3:19533518-19533518;G/T missense_variant False KCNH8@p.Y577C 1 0.291262136 ENSG00000183960 chr3:19451309-19451309;A/G missense_variant False KCNIP1@p.M40I 1 0.380952381 ENSG00000182132 chr5:170718783-170718783;G/A missense_variant False KCNIP2@p.E230Q 1 0.197530864 ENSG00000120049 chr10:101827903-101827903;C/G missense_variant False KCNIP2@p.E94Q 1 0.256410256 ENSG00000120049 chr10:101829143-101829143;C/G missense_variant False KCNIP2@p.R6L 1 0.2 ENSG00000120049 chr10:101843552-101843552;C/A missense_variant False KCNIP3@p.Q124E 1 0.451612903 ENSG00000115041 chr2:95374911-95374911;C/G missense_variant False KCNIP3@p.S70F 1 0.28030303 ENSG00000115041 chr2:95374323-95374323;C/T missense_variant False KCNIP4@p.D190N 1 0.295081967 ENSG00000185774 chr4:20732755-20732755;C/T missense_variant False KCNIP4@p.E106K 1 0.283783784 ENSG00000185774 chr4:20758863-20758863;C/T missense_variant False KCNIP4@p.E15K 1 0.536585366 ENSG00000185774 chr4:21948589-21948589;C/T missense_variant False KCNIP4@p.E247Q 1 0.504273504 ENSG00000185774 chr4:20730096-20730096;C/G missense_variant False KCNJ10@p.C294S 1 0.711538462 ENSG00000177807 chr1:160041653-160041653;A/T missense_variant False KCNJ10@p.E16Q 1 0.818181818 ENSG00000177807 chr1:160042487-160042487;C/G missense_variant False KCNJ10@p.F255L 1 0.139240506 ENSG00000177807 chr1:160041768-160041768;G/C missense_variant False KCNJ10@p.Q295E 1 0.571428571 ENSG00000177807 chr1:160041650-160041650;G/C missense_variant False KCND2@p.K138R 1 0.390804598 ENSG00000184408 chr7:120275045-120275045;A/G missense_variant False KCND2@p.H483Y 1 0.3 ENSG00000184408 chr7:120742582-120742582;C/T missense_variant False KCND2@p.E500K 1 0.123076923 ENSG00000184408 chr7:120745810-120745810;G/A missense_variant False KCNA1@p.D83N 1 0.362962963 ENSG00000111262 chr12:4911625-4911625;G/A missense_variant False KCNA2@p.G95W 1 0.193548387 ENSG00000177301 chr1:110604500-110604500;C/A missense_variant False KCNA2@p.E130K 1 0.363636364 ENSG00000177301 chr1:110604395-110604395;C/T missense_variant False KCNA2@p.E121K 1 0.125 ENSG00000177301 chr1:110604422-110604422;C/T missense_variant False KCNA1@p.V39M 1 0.155555556 ENSG00000111262 chr12:4911493-4911493;G/A missense_variant False KCNA1@p.M449L 1 0.14556962 ENSG00000111262 chr12:4912723-4912723;A/C missense_variant False KCNA1@p.F198L 1 0.1625 ENSG00000111262 chr12:4911972-4911972;C/A missense_variant False KCNA1@p.D31G 1 0.15625 ENSG00000111262 chr12:4911470-4911470;A/G missense_variant False KCMF1@p.S99C 1 0.404761905 ENSG00000176407 chr2:85035127-85035127;C/G missense_variant False KCNA1@p.D194N 1 0.346938776 ENSG00000111262 chr12:4911958-4911958;G/A missense_variant False KCNA1@p.D10Y 1 0.438596491 ENSG00000111262 chr12:4911406-4911406;G/T missense_variant False KCNA10@p.G113E 1 0.314285714 ENSG00000143105 chr1:110518450-110518450;C/T missense_variant False KCNA10@p.F179L 1 0.34375 ENSG00000143105 chr1:110518251-110518251;G/T missense_variant False KCNA10@p.E98Q 1 0.275362319 ENSG00000143105 chr1:110518496-110518496;C/G missense_variant False KCNA10@p.E55K 1 0.153846154 ENSG00000143105 chr1:110518625-110518625;C/T missense_variant False KCNA2@p.I402F 1 0.455555556 ENSG00000177301 chr1:110603579-110603579;T/A missense_variant False KCNA2@p.V301I 1 0.180094787 ENSG00000177301 chr1:110603882-110603882;C/T missense_variant False KCNA3@p.F375L 1 0.360902256 ENSG00000177272 chr1:110673685-110673685;G/T missense_variant False KCNA3@p.G112R 1 0.145833333 ENSG00000177272 chr1:110674476-110674476;C/T missense_variant False KCNA3@p.L463I 1 0.388059701 ENSG00000177272 chr1:110673423-110673423;G/T missense_variant False KCNA3@p.M137I 1 0.35042735 ENSG00000177272 chr1:110674399-110674399;C/T missense_variant False KCNA3@p.T128M 1 0.12244898 ENSG00000177272 chr1:110674427-110674427;G/A missense_variant False KCNA4@p.E9D 1 0.47826087 ENSG00000182255 chr11:30012652-30012652;C/A missense_variant False KCNA4@p.F258L 1 0.258823529 ENSG00000182255 chr11:30011905-30011905;G/C missense_variant False KCNA4@p.F566L 1 0.384615385 ENSG00000182255 chr11:30010981-30010981;G/T missense_variant False KCNA4@p.G633R 1 0.104166667 ENSG00000182255 chr11:30010782-30010782;C/T missense_variant False KCNA4@p.R277T 1 0.488888889 ENSG00000182255 chr11:30011849-30011849;C/G missense_variant False KCNA4@p.S61C 1 0.484375 ENSG00000182255 chr11:30012497-30012497;G/C missense_variant False KCNA5@p.E270Q 1 0.219858156 ENSG00000130037 chr12:5044955-5044955;G/C missense_variant False KCNA5@p.G136S 1 0.178571429 ENSG00000130037 chr12:5044553-5044553;G/A missense_variant False KCNA5@p.G351R 1 0.104166667 ENSG00000130037 chr12:5045198-5045198;G/A missense_variant False KCNA5@p.G545R 1 0.477272727 ENSG00000130037 chr12:5045780-5045780;G/A missense_variant False KCNA10@p.D139H 1 0.329896907 ENSG00000143105 chr1:110518373-110518373;C/G missense_variant False KCMF1@p.R140T 1 0.5 ENSG00000176407 chr2:85043658-85043658;G/C missense_variant False KCNA5@p.R169W 1 0.117647059 ENSG00000130037 chr12:5044652-5044652;C/T missense_variant False KBTBD2@p.C378F 1 0.201923077 ENSG00000170852 chr7:32870084-32870084;C/A missense_variant False KBTBD2@p.R221T 1 0.493506494 ENSG00000170852 chr7:32870555-32870555;C/G missense_variant False KBTBD2@p.P362S 1 0.390977444 ENSG00000170852 chr7:32870133-32870133;G/A missense_variant False KBTBD2@p.M155I 1 0.157407407 ENSG00000170852 chr7:32870752-32870752;C/T missense_variant False KBTBD2@p.E66K 1 0.191011236 ENSG00000170852 chr7:32875132-32875132;C/T missense_variant False KBTBD2@p.D98N 1 0.294117647 ENSG00000170852 chr7:32875036-32875036;C/T missense_variant False KBTBD2@p.D317H 1 0.25 ENSG00000170852 chr7:32870268-32870268;C/G missense_variant False KBTBD12@p.M604I 1 0.324786325 ENSG00000187715 chr3:127984218-127984218;G/A missense_variant False KBTBD8@p.D576N 1 0.279569892 ENSG00000163376 chr3:67008305-67008305;G/A missense_variant False KBTBD11@p.E420K 1 0.6 ENSG00000176595 chr8:2002450-2002450;G/A missense_variant False KBTBD11@p.D253N 1 0.363636364 ENSG00000176595 chr8:2001949-2001949;G/A missense_variant False KAZN@p.R133T 1 0.157894737 ENSG00000189337 chr1:14960855-14960855;G/C missense_variant False KAZN@p.D144N 1 0.347826087 ENSG00000189337 chr1:15034760-15034760;G/A missense_variant False KAZALD1@p.P64L 1 0.37037037 ENSG00000107821 chr10:101062783-101062783;C/T missense_variant False KATNIP@p.T578A 1 0.156862745 ENSG00000047578 chr16:27721684-27721684;A/G missense_variant False KBTBD3@p.E23Q 1 0.47826087 ENSG00000182359 chr11:106059031-106059031;C/G missense_variant False KBTBD3@p.E464Q 1 0.466666667 ENSG00000182359 chr11:106053299-106053299;C/G missense_variant False KBTBD3@p.R413T 1 0.793103448 ENSG00000182359 chr11:106053451-106053451;C/G missense_variant False KBTBD3@p.V218I 1 0.263888889 ENSG00000182359 chr11:106054037-106054037;C/T missense_variant False KBTBD3@p.W531S 1 0.092592593 ENSG00000182359 chr11:106053097-106053097;C/G missense_variant False KBTBD4@p.S252L 1 0.40625 ENSG00000123444 chr11:47573732-47573732;G/A missense_variant False KBTBD6@p.E106Q 1 0.194805195 ENSG00000165572 chr13:41132196-41132196;C/G missense_variant False KBTBD6@p.E154K 1 0.404761905 ENSG00000165572 chr13:41132052-41132052;C/T missense_variant False KBTBD6@p.E517K 1 0.153846154 ENSG00000165572 chr13:41130963-41130963;C/T missense_variant False KBTBD6@p.T379I 1 0.646551724 ENSG00000165572 chr13:41131376-41131376;G/A missense_variant False KBTBD6@p.W544C 1 0.232758621 ENSG00000165572 chr13:41130880-41130880;C/G missense_variant False KBTBD7@p.D274H 1 0.388888889 ENSG00000120696 chr13:41193438-41193438;C/G missense_variant False KBTBD7@p.D608H 1 0.179487179 ENSG00000120696 chr13:41192436-41192436;C/G missense_variant False KBTBD7@p.E68Q 1 0.824561404 ENSG00000120696 chr13:41194056-41194056;C/G missense_variant False KBTBD7@p.M345I 1 0.454545455 ENSG00000120696 chr13:41193223-41193223;C/A missense_variant False KBTBD7@p.R86G 1 0.666666667 ENSG00000120696 chr13:41194002-41194002;G/C missense_variant False KBTBD8@p.D148E 1 0.184210526 ENSG00000163376 chr3:67003411-67003411;C/A missense_variant False KCNA5@p.K151T 1 0.48 ENSG00000130037 chr12:5044599-5044599;A/C missense_variant False KCNA5@p.R577Q 1 0.4375 ENSG00000130037 chr12:5045877-5045877;G/A missense_variant False KCND2@p.D375N 1 0.165137615 ENSG00000184408 chr7:120732910-120732910;G/A missense_variant False KCNC1@p.V312I 1 0.176470588 ENSG00000129159 chr11:17772028-17772028;G/A missense_variant False KCNC2@p.K494E 1 0.772727273 ENSG00000166006 chr12:75050525-75050525;T/C missense_variant False KCNC2@p.G51S 1 0.636363636 ENSG00000166006 chr12:75207833-75207833;C/T missense_variant False KCNC2@p.F169L 1 0.178571429 ENSG00000166006 chr12:75207477-75207477;G/C missense_variant False KCNC2@p.E193Q 1 0.428571429 ENSG00000166006 chr12:75207407-75207407;C/G missense_variant False KCNC2@p.E170D 1 0.258064516 ENSG00000166006 chr12:75207474-75207474;C/A missense_variant False KCNC1@p.V434I 1 0.152542373 ENSG00000129159 chr11:17772394-17772394;G/A missense_variant False KCNC1@p.T206N 1 0.255555556 ENSG00000129159 chr11:17771711-17771711;C/A missense_variant False KCNB2@p.R140T 1 0.184615385 ENSG00000182674 chr8:72568153-72568153;G/C missense_variant False KCNC1@p.N374K 1 0.107142857 ENSG00000129159 chr11:17772216-17772216;T/G missense_variant False KCNC1@p.E88K 1 0.279069767 ENSG00000129159 chr11:17736264-17736264;G/A missense_variant False KCNC1@p.E116K 1 0.217391304 ENSG00000129159 chr11:17736348-17736348;G/A missense_variant False KCNB2@p.S568F 1 0.09 ENSG00000182674 chr8:72937058-72937058;C/T missense_variant False KCNB2@p.R799T 1 0.106382979 ENSG00000182674 chr8:72937751-72937751;G/C missense_variant False KCNB2@p.R766T 1 0.111801242 ENSG00000182674 chr8:72937652-72937652;G/C missense_variant False KCNC2@p.N530S 1 0.173913043 ENSG00000166006 chr12:75050416-75050416;T/C missense_variant False KCNC2@p.R599Q 1 0.139784946 ENSG00000166006 chr12:75043226-75043226;C/T missense_variant False KCNC3@p.E343K 1 0.127659574 ENSG00000131398 chr19:50323926-50323926;C/T missense_variant False KCNC3@p.M501I 1 0.069620253 ENSG00000131398 chr19:50323450-50323450;C/A missense_variant False KCNC3@p.R420H 1 0.245901639 ENSG00000131398 chr19:50323694-50323694;C/T missense_variant False KCNC4@p.A338T 1 0.489795918 ENSG00000116396 chr1:110223297-110223297;G/A missense_variant False KCNC4@p.E259Q 1 0.133757962 ENSG00000116396 chr1:110223060-110223060;G/C missense_variant False KCNC4@p.E27Q 1 0.333333333 ENSG00000116396 chr1:110211578-110211578;G/C missense_variant False KCNC4@p.H99Afs*46 1 0.135135135 ENSG00000116396 chr1:110211792-110211798;GGCACCC/- frameshift_variant False KCNC4@p.I160M 1 0.266666667 ENSG00000116396 chr1:110211979-110211979;C/G missense_variant False KCNC4@p.I40S 1 0.444444444 ENSG00000116396 chr1:110211618-110211618;T/G missense_variant False KCNC4@p.Q617K 1 0.157894737 ENSG00000116396 chr1:110232250-110232250;C/A missense_variant False KCNC4@p.R152C 1 0.765151515 ENSG00000116396 chr1:110211953-110211953;C/T missense_variant False KCNC4@p.S410C 1 0.264705882 ENSG00000116396 chr1:110223514-110223514;C/G missense_variant False KCND1@p.F300S 1 0.423076923 ENSG00000102057 chrX:48969373-48969373;A/G missense_variant False KCND1@p.G101W 1 0.209302326 ENSG00000102057 chrX:48969971-48969971;C/A missense_variant False KCND2@p.D155E 1 0.387096774 ENSG00000184408 chr7:120275097-120275097;C/A missense_variant False KCNB2@p.R231H 1 0.055555556 ENSG00000182674 chr8:72936047-72936047;G/A missense_variant False KCNB2@p.Q791H 1 0.361702128 ENSG00000182674 chr8:72937728-72937728;G/C missense_variant False KCNA5@p.S308C 1 0.153846154 ENSG00000130037 chr12:5045070-5045070;C/G missense_variant False KCNA7@p.A275T 1 0.166666667 ENSG00000104848 chr19:49070611-49070611;C/T missense_variant False KCNAB2@p.I295V 1 0.416666667 ENSG00000069424 chr1:6096714-6096714;A/G missense_variant False KCNAB1@p.L94F 1 0.1 ENSG00000169282 chr3:156421620-156421620;C/T missense_variant False KCNAB1@p.A224S 1 0.106666667 ENSG00000169282 chr3:156514375-156514375;G/T missense_variant False KCNA7@p.V148_I153del 1 0.176470588 ENSG00000104848 chr19:49072128-49072145;ATGACCAGCACGGAGACT/- inframe_deletion False KCNA7@p.E137D 1 0.121212121 ENSG00000104848 chr19:49072175-49072175;C/G missense_variant False KCNA7@p.D170N 1 0.193548387 ENSG00000104848 chr19:49072078-49072078;C/T missense_variant False KCNA6@p.V179I 1 0.26984127 ENSG00000151079 chr12:4810576-4810576;G/A missense_variant False KCNB2@p.Q430K 1 0.117647059 ENSG00000182674 chr8:72936643-72936643;C/A missense_variant False KCNA6@p.S248F 1 0.247191011 ENSG00000151079 chr12:4810784-4810784;C/T missense_variant False KCNA6@p.R524T 1 0.207920792 ENSG00000151079 chr12:4811612-4811612;G/C missense_variant False KCNA6@p.G483R 1 0.306666667 ENSG00000151079 chr12:4811488-4811488;G/A missense_variant False KCNA6@p.G426R 1 0.323529412 ENSG00000151079 chr12:4811317-4811317;G/A missense_variant False KCNA6@p.G32S 1 0.329896907 ENSG00000151079 chr12:4810135-4810135;G/A missense_variant False KCNA5@p.V514I 1 0.205882353 ENSG00000130037 chr12:5045687-5045687;G/A missense_variant False KCNAB3@p.I156M 1 0.521276596 ENSG00000170049 chr17:7925957-7925957;G/C missense_variant False KCNAB3@p.P251A 1 0.28125 ENSG00000170049 chr17:7924226-7924226;G/C missense_variant False KCNB1@p.E623K 1 0.314285714 ENSG00000158445 chr20:49373693-49373693;C/T missense_variant False KCNB1@p.M532R 1 0.075313808 ENSG00000158445 chr20:49373965-49373965;A/C missense_variant False KCNB1@p.P227S 1 0.424657534 ENSG00000158445 chr20:49374881-49374881;G/A missense_variant False KCNB1@p.S367Y 1 0.467741935 ENSG00000158445 chr20:49374460-49374460;G/T missense_variant False KCNB1@p.S417C 1 0.05952381 ENSG00000158445 chr20:49374310-49374310;G/C missense_variant False KCNB2@p.D124H 1 0.136986301 ENSG00000182674 chr8:72568104-72568104;G/C missense_variant False KCNB2@p.D386E 1 0.088435374 ENSG00000182674 chr8:72936513-72936513;C/A missense_variant False KCNB2@p.D79G 1 0.489130435 ENSG00000182674 chr8:72567970-72567970;A/G missense_variant False KCNB2@p.E357K 1 0.238636364 ENSG00000182674 chr8:72936424-72936424;G/A missense_variant False KCNB2@p.E565K 1 0.233333333 ENSG00000182674 chr8:72937048-72937048;G/A missense_variant False KCNB2@p.E759K 1 0.158536585 ENSG00000182674 chr8:72937630-72937630;G/A missense_variant False KCNB2@p.H486D 1 0.093457944 ENSG00000182674 chr8:72936811-72936811;C/G missense_variant False KCNB2@p.K4M 1 0.269230769 ENSG00000182674 chr8:72567745-72567745;A/T missense_variant False KCNB2@p.L535V 1 0.072463768 ENSG00000182674 chr8:72936958-72936958;C/G missense_variant False KCNB2@p.P844S 1 0.133333333 ENSG00000182674 chr8:72937885-72937885;C/T missense_variant False KCNJ3@p.L417F 1 0.188118812 ENSG00000162989 chr2:154855058-154855058;G/C missense_variant False KCNJ4@p.E264K 1 0.12195122 ENSG00000168135 chr22:38427343-38427343;C/T missense_variant False KATNIP@p.P1067T 1 0.351351351 ENSG00000047578 chr16:27750159-27750159;C/A missense_variant False KCTD16@p.F230L 1 0.586206897 ENSG00000183775 chr5:144207404-144207404;C/G missense_variant False KCTD17@p.S176C 1 0.128787879 ENSG00000100379 chr22:37059332-37059332;C/G missense_variant False KCTD17@p.R288W 1 0.193548387 ENSG00000100379 chr22:37061595-37061595;C/T missense_variant False KCTD17@p.P119L 1 0.421052632 ENSG00000100379 chr22:37056356-37056356;C/T missense_variant False KCTD17@p.D312N 1 0.166666667 ENSG00000100379 chr22:37062562-37062562;G/A missense_variant False KCTD16@p.Y170C 1 0.567164179 ENSG00000183775 chr5:144207223-144207223;A/G missense_variant False KCTD16@p.I339M 1 0.218390805 ENSG00000183775 chr5:144473844-144473844;C/G missense_variant False KCTD16@p.E242K 1 0.290909091 ENSG00000183775 chr5:144207438-144207438;G/A missense_variant False KCTD18@p.G341E 1 0.125 ENSG00000155729 chr2:200490359-200490359;C/T missense_variant False KCTD15@p.R105W 1 0.201834862 ENSG00000153885 chr19:33806933-33806933;C/T missense_variant False KCTD15@p.G198E 1 0.538461538 ENSG00000153885 chr19:33811452-33811452;G/A missense_variant False KCTD14@p.C171G 1 0.365168539 ENSG00000151364 chr11:78016850-78016850;A/C missense_variant False KCTD11@p.R249Q 1 0.151515152 ENSG00000213859 chr17:7353571-7353571;G/A missense_variant False KCTD11@p.R241Q 1 0.147058824 ENSG00000213859 chr17:7353547-7353547;G/A missense_variant False KCTD11@p.H150D 1 0.119402985 ENSG00000213859 chr17:7353273-7353273;C/G missense_variant False KCTD18@p.E110K 1 0.186046512 ENSG00000155729 chr2:200504792-200504792;C/T missense_variant False KCTD18@p.L48V 1 0.178082192 ENSG00000155729 chr2:200506875-200506875;G/C missense_variant False KCNJ4@p.I224M 1 0.481481481 ENSG00000168135 chr22:38427461-38427461;G/C missense_variant False KCTD19@p.S589L 1 0.25210084 ENSG00000168676 chr16:67293996-67293996;G/A missense_variant False KCTD21@p.E197D 1 0.132743363 ENSG00000188997 chr11:78173964-78173964;C/A missense_variant False KCTD21@p.D73Y 1 0.274509804 ENSG00000188997 chr11:78174338-78174338;C/A missense_variant False KCTD20@p.R199T 1 0.266666667 ENSG00000112078 chr6:36479649-36479649;G/C missense_variant False KCTD20@p.R157G 1 0.25862069 ENSG00000112078 chr6:36479155-36479155;C/G missense_variant False KCTD20@p.E53K 1 0.126984127 ENSG00000112078 chr6:36470254-36470254;G/A missense_variant False KCTD20@p.D58Y 1 0.067484663 ENSG00000112078 chr6:36474800-36474800;G/T missense_variant False KCTD19@p.Q907H 1 0.787234043 ENSG00000168676 chr16:67289629-67289629;C/G missense_variant False KCTD19@p.A551P 1 0.745657568 ENSG00000168676 chr16:67294111-67294111;C/G missense_variant False KCTD19@p.P749L 1 0.2 ENSG00000168676 chr16:67291810-67291810;G/A missense_variant False KCTD19@p.I363M 1 0.31147541 ENSG00000168676 chr16:67297561-67297561;G/C missense_variant False KCTD19@p.H16Y 1 0.282608696 ENSG00000168676 chr16:67320843-67320843;G/A missense_variant False KCTD19@p.E372Q 1 0.233333333 ENSG00000168676 chr16:67297536-67297536;C/G missense_variant False KCTD19@p.D877H 1 0.333333333 ENSG00000168676 chr16:67290923-67290923;C/G missense_variant False KCTD19@p.A895D 1 0.168674699 ENSG00000168676 chr16:67289666-67289666;G/T missense_variant False KCTD10@p.Y174N 1 0.457142857 ENSG00000110906 chr12:109457637-109457637;A/T missense_variant False KCTD10@p.V10L 1 0.966666667 ENSG00000110906 chr12:109469704-109469704;C/A missense_variant False KCTD10@p.S173L 1 0.245283019 ENSG00000110906 chr12:109457639-109457639;G/A missense_variant False KCNT2@p.E962Q 1 0.173913043 ENSG00000162687 chr1:196280886-196280886;C/G missense_variant False KCNU1@p.F68L 1 0.257142857 ENSG00000215262 chr8:36787314-36787314;C/A missense_variant False KCNU1@p.E1130K 1 0.217391304 ENSG00000215262 chr8:36935858-36935858;G/A missense_variant False KCNT2@p.T910R 1 0.114285714 ENSG00000162687 chr1:196282325-196282325;G/C missense_variant False KCNT2@p.R345L 1 0.153846154 ENSG00000162687 chr1:196425939-196425939;C/A missense_variant False KCNT2@p.M848V 1 0.644444444 ENSG00000162687 chr1:196305287-196305287;T/C missense_variant False KCNT2@p.F426Y 1 0.244444444 ENSG00000162687 chr1:196398580-196398580;A/T missense_variant False KCNT2@p.D530N 1 0.418181818 ENSG00000162687 chr1:196340536-196340536;C/T missense_variant False KCTD10@p.R92Q 1 0.375 ENSG00000110906 chr12:109460748-109460748;C/T missense_variant False KCNT2@p.D312H 1 0.210526316 ENSG00000162687 chr1:196428155-196428155;C/G missense_variant False KCNT2@p.A453T 1 0.234899329 ENSG00000162687 chr1:196373186-196373186;C/T missense_variant False KCNT1@p.S139L 1 0.304761905 ENSG00000107147 chr9:135753975-135753975;C/T missense_variant False KCNT1@p.R914C 1 0.158227848 ENSG00000107147 chr9:135779426-135779426;C/T missense_variant False KCNT1@p.R239H 1 0.183333333 ENSG00000107147 chr9:135758427-135758427;G/A missense_variant False KCNT1@p.G342D 1 0.09375 ENSG00000107147 chr9:135765077-135765077;G/A missense_variant False KCNU1@p.L155W 1 0.32 ENSG00000215262 chr8:36805281-36805281;T/G missense_variant False KCNU1@p.L29F 1 0.090909091 ENSG00000215262 chr8:36784495-36784495;C/T missense_variant False KCNU1@p.Q511H 1 0.12195122 ENSG00000215262 chr8:36840477-36840477;G/C missense_variant False KCNU1@p.R857L 1 0.743589744 ENSG00000215262 chr8:36918871-36918871;G/T missense_variant False KCNU1@p.T668N 1 0.296296296 ENSG00000215262 chr8:36864515-36864515;C/A missense_variant False KCNV1@p.A459D 1 0.178947368 ENSG00000164794 chr8:109968215-109968215;G/T missense_variant False KCNV1@p.C342W 1 0.244186047 ENSG00000164794 chr8:109968565-109968565;A/C missense_variant False KCNV1@p.E163Q 1 0.435897436 ENSG00000164794 chr8:109972762-109972762;C/G missense_variant False KCNV1@p.L131F 1 0.266666667 ENSG00000164794 chr8:109973998-109973998;G/A missense_variant False KCNV1@p.R210L 1 0.360655738 ENSG00000164794 chr8:109972620-109972620;C/A missense_variant False KCNV1@p.R309C 1 0.390243902 ENSG00000164794 chr8:109972324-109972324;G/A missense_variant False KCNV1@p.S296Gfs*18 1 0.310810811 ENSG00000164794 chr8:109972361-109972364;ACTT/- frameshift_variant False KCNV2@p.D70N 1 0.344827586 ENSG00000168263 chr9:2717947-2717947;G/A missense_variant False KCNV2@p.G117S 1 0.222222222 ENSG00000168263 chr9:2718088-2718088;G/A missense_variant False KCNV2@p.R206W 1 0.4 ENSG00000168263 chr9:2718355-2718355;C/T missense_variant False KCTD10@p.G85C 1 0.324324324 ENSG00000110906 chr12:109460770-109460770;C/A missense_variant False KCTD10@p.R248L 1 0.65625 ENSG00000110906 chr12:109451794-109451794;C/A missense_variant False KCTD21@p.E198K 1 0.133333333 ENSG00000188997 chr11:78173963-78173963;C/T missense_variant False KCTD21@p.E226K 1 0.223880597 ENSG00000188997 chr11:78173879-78173879;C/T missense_variant False KCTD21@p.L178S 1 0.115 ENSG00000188997 chr11:78174022-78174022;A/G missense_variant False KDM2B@p.Q822E 1 0.166666667 ENSG00000089094 chr12:121443781-121443781;G/C missense_variant False KDM3A@p.E66Q 1 0.170212766 ENSG00000115548 chr2:86449816-86449816;G/C missense_variant False KDM3A@p.E40Q 1 0.192982456 ENSG00000115548 chr2:86442165-86442165;G/C missense_variant False KDM3A@p.E40K 1 0.12173913 ENSG00000115548 chr2:86442165-86442165;G/A missense_variant False KDM3A@p.E169K 1 0.321428571 ENSG00000115548 chr2:86455136-86455136;G/A missense_variant False KDM3A@p.D1122G 1 0.129032258 ENSG00000115548 chr2:86489369-86489369;A/G missense_variant False KDM2B@p.S1165L 1 0.262068966 ENSG00000089094 chr12:121440932-121440932;G/A missense_variant False KDM2B@p.L1194I 1 0.279069767 ENSG00000089094 chr12:121440846-121440846;G/T missense_variant False KDM2A@p.Q1018E 1 0.165137615 ENSG00000173120 chr11:67253572-67253572;C/G missense_variant False KDM2B@p.K26E 1 0.110638298 ENSG00000089094 chr12:121580836-121580836;T/C missense_variant False KDM2B@p.E677Q 1 0.134615385 ENSG00000089094 chr12:121445349-121445349;C/G missense_variant False KDM2B@p.E554Q 1 0.411764706 ENSG00000089094 chr12:121494653-121494653;C/G missense_variant False KDM2B@p.D244N 1 0.179310345 ENSG00000089094 chr12:121534544-121534544;C/T missense_variant False KDM2A@p.S993C 1 0.088888889 ENSG00000173120 chr11:67253498-67253498;C/G missense_variant False KDM2A@p.S219F 1 0.298507463 ENSG00000173120 chr11:67215918-67215918;C/T missense_variant False KDM3A@p.G126R 1 0.808510638 ENSG00000115548 chr2:86451136-86451136;G/A missense_variant False KDM3A@p.K580E 1 0.121495327 ENSG00000115548 chr2:86474789-86474789;A/G missense_variant False KDM3A@p.L18F 1 0.363636364 ENSG00000115548 chr2:86442099-86442099;C/T missense_variant False KDM3A@p.Q1224E 1 0.587155963 ENSG00000115548 chr2:86490977-86490977;C/G missense_variant False KDM3A@p.S475L 1 0.196969697 ENSG00000115548 chr2:86466788-86466788;C/T missense_variant False KDM3A@p.V472Gfs*22 1 0.289256198 ENSG00000115548 chr2:86466770-86466771;-/A frameshift_variant False KDM3B@p.D1461G 1 0.525862069 ENSG00000120733 chr5:138425553-138425553;A/G missense_variant False KDM3B@p.D1518N 1 0.053097345 ENSG00000120733 chr5:138427238-138427238;G/A missense_variant False KDM3B@p.D1565H 1 0.189944134 ENSG00000120733 chr5:138428026-138428026;G/C missense_variant False KDM3B@p.D1679N 1 0.266666667 ENSG00000120733 chr5:138430390-138430390;G/A missense_variant False KDM3B@p.E1070Q 1 0.355371901 ENSG00000120733 chr5:138415140-138415140;G/C missense_variant False KDM3B@p.E1250G 1 0.127906977 ENSG00000120733 chr5:138420739-138420739;A/G missense_variant False KDM3B@p.E1345K 1 0.447368421 ENSG00000120733 chr5:138424135-138424135;G/A missense_variant False KDM3B@p.E1702K 1 0.318181818 ENSG00000120733 chr5:138431458-138431458;G/A missense_variant False KDM3B@p.G1049E 1 0.1875 ENSG00000120733 chr5:138399959-138399959;G/A missense_variant False KDM3B@p.H678Y 1 0.342105263 ENSG00000120733 chr5:138391664-138391664;C/T missense_variant False KDM3B@p.Q528K 1 0.268292683 ENSG00000120733 chr5:138391214-138391214;C/A missense_variant False KDM2A@p.R1020W 1 0.432432432 ENSG00000173120 chr11:67253578-67253578;C/T missense_variant False KDM2A@p.L1107F 1 0.185185185 ENSG00000173120 chr11:67254887-67254887;G/C missense_variant False KCTD21@p.Y259Tfs*40 1 0.141176471 ENSG00000188997 chr11:78173781-78173781;C/- frameshift_variant False KCTD3@p.S462F 1 0.637254902 ENSG00000136636 chr1:215608092-215608092;C/T missense_variant False KCTD8@p.E133Q 1 0.5 ENSG00000183783 chr4:44448127-44448127;C/G missense_variant False KCTD6@p.T147S 1 0.102409639 ENSG00000168301 chr3:58501358-58501358;C/G missense_variant False KCTD6@p.N3S 1 0.470588235 ENSG00000168301 chr3:58498763-58498763;A/G missense_variant False KCTD4@p.R171C 1 0.194029851 ENSG00000180332 chr13:45194057-45194057;G/A missense_variant False KCTD4@p.Q47R 1 0.897058824 ENSG00000180332 chr13:45194428-45194428;T/C missense_variant False KCTD4@p.E97K 1 0.398148148 ENSG00000180332 chr13:45194279-45194279;C/T missense_variant False KCTD3@p.R79G 1 0.304347826 ENSG00000136636 chr1:215575952-215575952;C/G missense_variant False KDM1B@p.T807A 1 0.055045872 ENSG00000165097 chr6:18221939-18221939;A/G missense_variant False KCTD3@p.P799A 1 0.545454545 ENSG00000136636 chr1:215620565-215620565;C/G missense_variant False KCTD3@p.G543R 1 0.081300813 ENSG00000136636 chr1:215618950-215618950;G/A missense_variant False KCTD3@p.E708K 1 0.096 ENSG00000136636 chr1:215620292-215620292;G/A missense_variant False KCTD3@p.E431Q 1 0.125 ENSG00000136636 chr1:215604284-215604284;G/C missense_variant False KCTD2@p.P54L 1 0.533333333 ENSG00000180901 chr17:75047411-75047411;C/T missense_variant False KCTD2@p.D124Y 1 0.111111111 ENSG00000180901 chr17:75049250-75049250;G/T missense_variant False KCTD8@p.E254D 1 0.217391304 ENSG00000183783 chr4:44447762-44447762;C/G missense_variant False KCTD8@p.E439K 1 0.156069364 ENSG00000183783 chr4:44174897-44174897;C/T missense_variant False KCTD8@p.M440Ifs*44 1 0.194805195 ENSG00000183783 chr4:44174892-44174892;C/- frameshift_variant False KCTD8@p.S359G 1 0.296875 ENSG00000183783 chr4:44175137-44175137;T/C missense_variant False KDELR2@p.H111Y 1 0.436781609 ENSG00000136240 chr7:6469616-6469616;G/A missense_variant False KDELR3@p.I23M 1 0.476190476 ENSG00000100196 chr22:38468302-38468302;C/G missense_variant False KDF1@p.D163N 1 0.449275362 ENSG00000175707 chr1:26951894-26951894;C/T missense_variant False KDF1@p.E258D 1 0.189189189 ENSG00000175707 chr1:26951607-26951607;C/G missense_variant False KDF1@p.P210S 1 0.083333333 ENSG00000175707 chr1:26951753-26951753;G/A missense_variant False KDM1A@p.E232K 1 0.170454545 ENSG00000004487 chr1:23053803-23053803;G/A missense_variant False KDM1A@p.E477K 1 0.161616162 ENSG00000004487 chr1:23071312-23071312;G/A missense_variant False KDM1A@p.H185Y 1 0.17721519 ENSG00000004487 chr1:23050422-23050422;C/T missense_variant False KDM1A@p.I780V 1 0.283783784 ENSG00000004487 chr1:23082331-23082331;A/G missense_variant False KDM1A@p.Q180R 1 0.238636364 ENSG00000004487 chr1:23050408-23050408;A/G missense_variant False KDM1A@p.R214T 1 0.363636364 ENSG00000004487 chr1:23050510-23050510;G/C missense_variant False KDM1A@p.R526T 1 0.843971631 ENSG00000004487 chr1:23073318-23073318;G/C missense_variant False KDM1B@p.K647N 1 0.252941176 ENSG00000165097 chr6:18212559-18212559;G/C missense_variant False KCNT1@p.F939Y 1 0.728971963 ENSG00000107147 chr9:135784055-135784055;T/A missense_variant False KCNT1@p.E60K 1 0.342857143 ENSG00000107147 chr9:135714644-135714644;G/A missense_variant False KCNT1@p.E1025K 1 0.132743363 ENSG00000107147 chr9:135784863-135784863;G/A missense_variant False KCNK5@p.G428S 1 0.347826087 ENSG00000164626 chr6:39191108-39191108;C/T missense_variant False KCNK7@p.R222H 1 0.315789474 ENSG00000173338 chr11:65593529-65593529;C/T missense_variant False KCNK7@p.E278K 1 0.238095238 ENSG00000173338 chr11:65593097-65593097;C/T missense_variant False KCNK6@p.R231W 1 0.103030303 ENSG00000099337 chr19:38326961-38326961;C/T missense_variant False KCNK5@p.T283I 1 0.235955056 ENSG00000164626 chr6:39191542-39191542;G/A missense_variant False KCNK5@p.R224L 1 0.25 ENSG00000164626 chr6:39191719-39191719;C/A missense_variant False KCNK5@p.G428V 1 0.347826087 ENSG00000164626 chr6:39191107-39191107;C/A missense_variant False KCNK5@p.G234V 1 0.102222222 ENSG00000164626 chr6:39191689-39191689;C/A missense_variant False KCNK2@p.L73V 1 0.375 ENSG00000082482 chr1:215086538-215086538;C/G missense_variant False KCNK5@p.E268K 1 0.15037594 ENSG00000164626 chr6:39191588-39191588;C/T missense_variant False KCNK4@p.S86L 1 0.130434783 ENSG00000182450 chr11:64296945-64296945;C/T missense_variant False KCNK4@p.S351W 1 0.294117647 ENSG00000182450 chr11:64299596-64299596;C/G missense_variant False KCNK3@p.L197F 1 0.385964912 ENSG00000171303 chr2:26727972-26727972;C/T missense_variant False KCNK2@p.T52M 1 0.326530612 ENSG00000082482 chr1:215086476-215086476;C/T missense_variant False KCNK2@p.S6W 1 0.223880597 ENSG00000082482 chr1:215083402-215083402;C/G missense_variant False KCNK9@p.K141M 1 0.290322581 ENSG00000169427 chr8:139618961-139618961;T/A missense_variant False KCNK9@p.P279L 1 0.424242424 ENSG00000169427 chr8:139618547-139618547;G/A missense_variant False KCNK9@p.Q180E 1 0.073170732 ENSG00000169427 chr8:139618845-139618845;G/C missense_variant False KCNK9@p.S304L 1 0.14893617 ENSG00000169427 chr8:139618472-139618472;G/A missense_variant False KCNMA1@p.E1025Q 1 0.6 ENSG00000156113 chr10:76910040-76910040;C/G missense_variant False KCNMA1@p.Q216R 1 0.127272727 ENSG00000156113 chr10:77184872-77184872;T/C missense_variant False KCNMA1@p.R109W 1 0.178571429 ENSG00000156113 chr10:77637318-77637318;G/A missense_variant False KCNMA1@p.S199L 1 0.387096774 ENSG00000156113 chr10:77251201-77251201;G/A missense_variant False KCNMA1@p.S782A 1 0.073170732 ENSG00000156113 chr10:76969990-76969990;A/C missense_variant False KCNMA1@p.S937L 1 0.189189189 ENSG00000156113 chr10:76944865-76944865;G/A missense_variant False KCNMA1@p.V249A 1 0.090909091 ENSG00000156113 chr10:77183483-77183483;A/G missense_variant False KCNMA1@p.V899Sfs*13 1 0.221311475 ENSG00000156113 chr10:76949156-76949157;-/T frameshift_variant False KCNMB1@p.G141R 1 0.238095238 ENSG00000145936 chr5:170378859-170378859;C/T missense_variant False KCNMB1@p.L66R 1 0.372881356 ENSG00000145936 chr5:170383788-170383788;A/C missense_variant False KCNMB1@p.T115M 1 0.204545455 ENSG00000145936 chr5:170378936-170378936;G/A missense_variant False KCNMB2@p.S193C 1 0.5 ENSG00000275163 chr3:178842807-178842807;C/G missense_variant False KCNMB3@p.S15R 1 0.133333333 ENSG00000171121 chr3:179266666-179266666;G/C missense_variant False KCNK2@p.S6L 1 0.099099099 ENSG00000082482 chr1:215083402-215083402;C/T missense_variant False KCNK1@p.S303L 1 0.3 ENSG00000135750 chr1:233671427-233671427;C/T missense_variant False KCNMB4@p.F66L 1 0.162790698 ENSG00000135643 chr12:70366932-70366932;C/G missense_variant False KCNJ6@p.R322G 1 0.126984127 ENSG00000157542 chr21:37625467-37625467;G/C missense_variant False KCNJ8@p.V334L 1 0.41221374 ENSG00000121361 chr12:21765998-21765998;C/A missense_variant False KCNJ8@p.R399Q 1 0.394366197 ENSG00000121361 chr12:21765802-21765802;C/T missense_variant False KCNJ8@p.E332K 1 0.227272727 ENSG00000121361 chr12:21766004-21766004;C/T missense_variant False KCNJ8@p.A223V 1 0.196850394 ENSG00000121361 chr12:21766330-21766330;G/A missense_variant False KCNJ6@p.V70L 1 0.365217391 ENSG00000157542 chr21:37714949-37714949;C/G missense_variant False KCNJ6@p.R37M 1 0.116883117 ENSG00000157542 chr21:37715047-37715047;C/A missense_variant False KCNJ6@p.L113F 1 0.324873096 ENSG00000157542 chr21:37714818-37714818;C/G missense_variant False KCNK1@p.F280L 1 0.509433962 ENSG00000135750 chr1:233671359-233671359;C/A missense_variant False KCNJ6@p.E378K 1 0.153846154 ENSG00000157542 chr21:37625299-37625299;C/T missense_variant False KCNJ6@p.E201Q 1 0.316455696 ENSG00000157542 chr21:37714556-37714556;C/G missense_variant False KCNJ6@p.D120Y 1 0.101190476 ENSG00000157542 chr21:37714799-37714799;C/A missense_variant False KCNJ5@p.K56N 1 0.111111111 ENSG00000120457 chr11:128911441-128911441;G/C missense_variant False KCNJ5@p.E298Q 1 0.942857143 ENSG00000120457 chr11:128912165-128912165;G/C missense_variant False KCNJ4@p.V162I 1 0.463414634 ENSG00000168135 chr22:38427649-38427649;C/T missense_variant False KCNJ9@p.E116K 1 0.583333333 ENSG00000162728 chr1:160084376-160084376;G/A missense_variant False KCNJ9@p.S332L 1 0.174698795 ENSG00000162728 chr1:160087630-160087630;C/T missense_variant False KCNK10@p.E178K 1 0.279569892 ENSG00000100433 chr14:88227509-88227509;C/T missense_variant False KCNK10@p.R419W 1 0.714285714 ENSG00000100433 chr14:88185897-88185897;G/A missense_variant False KCNK10@p.W343* 1 0.727272727 ENSG00000100433 chr14:88186123-88186123;C/- frameshift_variant False KCNK13@p.E252D 1 0.192982456 ENSG00000152315 chr14:90184532-90184532;G/C missense_variant False KCNK13@p.S335N 1 0.285714286 ENSG00000152315 chr14:90184780-90184780;G/A missense_variant False KCNK13@p.S359L 1 0.127659574 ENSG00000152315 chr14:90184852-90184852;C/T missense_variant False KCNK15@p.E30V 1 0.142857143 ENSG00000124249 chr20:44745999-44745999;A/T missense_variant False KCNK15@p.I235L 1 0.195729537 ENSG00000124249 chr20:44750548-44750548;A/C missense_variant False KCNK15@p.P261S 1 0.31147541 ENSG00000124249 chr20:44750626-44750626;C/T missense_variant False KCNK15@p.S271N 1 0.214285714 ENSG00000124249 chr20:44750657-44750657;G/A missense_variant False KCNK16@p.E155Q 1 0.416666667 ENSG00000095981 chr6:39317818-39317818;C/G missense_variant False KCNK16@p.E36Q 1 0.2 ENSG00000095981 chr6:39322435-39322435;C/G missense_variant False KCNK16@p.V22A 1 0.22 ENSG00000095981 chr6:39322476-39322476;A/G missense_variant False KCNK18@p.T99A 1 0.198275862 ENSG00000186795 chr10:117201230-117201230;A/G missense_variant False KCNK1@p.E84K 1 0.321428571 ENSG00000135750 chr1:233614421-233614421;G/A missense_variant False KCNMB4@p.E140Q 1 0.27090301 ENSG00000135643 chr12:70400290-70400290;G/C missense_variant False KCNMB4@p.Y149C 1 0.451428571 ENSG00000135643 chr12:70400318-70400318;A/G missense_variant False KCNT1@p.D980H 1 0.75 ENSG00000107147 chr9:135784586-135784586;G/C missense_variant False KCNQ5@p.S476L 1 0.115789474 ENSG00000185760 chr6:73133600-73133600;C/T missense_variant False KCNRG@p.E260Q 1 0.128 ENSG00000198553 chr13:50020413-50020413;G/C missense_variant False KCNQ5@p.Y553H 1 0.388888889 ENSG00000185760 chr6:73190652-73190652;T/C missense_variant False KCNQ5@p.W864C 1 0.095238095 ENSG00000185760 chr6:73195207-73195207;G/T missense_variant False KCNQ5@p.W303C 1 0.333333333 ENSG00000185760 chr6:73077878-73077878;G/T missense_variant False KCNQ5@p.V209F 1 0.291139241 ENSG00000185760 chr6:73077330-73077330;G/T missense_variant False KCNQ5@p.T738M 1 0.469387755 ENSG00000185760 chr6:73194828-73194828;C/T missense_variant False KCNQ5@p.R686K 1 0.48255814 ENSG00000185760 chr6:73194672-73194672;G/A missense_variant False KCNQ5@p.I757M 1 0.351851852 ENSG00000185760 chr6:73194886-73194886;C/G missense_variant False KCNQ5@p.R587Q 1 0.338983051 ENSG00000185760 chr6:73192615-73192615;G/A missense_variant False KCNQ5@p.R470Q 1 0.229166667 ENSG00000185760 chr6:73133582-73133582;G/A missense_variant False KCNQ5@p.R379H 1 0.375 ENSG00000185760 chr6:73120493-73120493;G/A missense_variant False KCNQ5@p.Q568E 1 0.213114754 ENSG00000185760 chr6:73190697-73190697;C/G missense_variant False KCNQ5@p.P369L 1 0.243902439 ENSG00000185760 chr6:73111384-73111384;C/T missense_variant False KCNQ5@p.N672D 1 0.153846154 ENSG00000185760 chr6:73194629-73194629;A/G missense_variant False KCNRG@p.F16L 1 0.225806452 ENSG00000198553 chr13:50015541-50015541;C/G missense_variant False KCNRG@p.S182C 1 0.238095238 ENSG00000198553 chr13:50016038-50016038;C/G missense_variant False KCNRG@p.S29F 1 0.171428571 ENSG00000198553 chr13:50015579-50015579;C/T missense_variant False KCNS1@p.E398K 1 0.074074074 ENSG00000124134 chr20:45095259-45095259;C/T missense_variant False KCNS1@p.S461F 1 0.066666667 ENSG00000124134 chr20:45095069-45095069;G/A missense_variant False KCNS2@p.A363S 1 0.504504505 ENSG00000156486 chr8:98429066-98429066;G/T missense_variant False KCNS2@p.E106K 1 0.176678445 ENSG00000156486 chr8:98428295-98428295;G/A missense_variant False KCNS2@p.E150K 1 0.233766234 ENSG00000156486 chr8:98428427-98428427;G/A missense_variant False KCNS2@p.E15K 1 0.5 ENSG00000156486 chr8:98428022-98428022;G/A missense_variant False KCNS2@p.F101L 1 0.230769231 ENSG00000156486 chr8:98428282-98428282;C/A missense_variant False KCNS2@p.P165A 1 0.076923077 ENSG00000156486 chr8:98428472-98428472;C/G missense_variant False KCNS2@p.Q138H 1 0.085365854 ENSG00000156486 chr8:98428393-98428393;G/C missense_variant False KCNS3@p.D420N 1 0.126436782 ENSG00000170745 chr2:17932266-17932266;G/A missense_variant False KCNS3@p.I391M 1 0.492063492 ENSG00000170745 chr2:17932181-17932181;C/G missense_variant False KCNS3@p.M295I 1 0.413043478 ENSG00000170745 chr2:17931893-17931893;G/A missense_variant False KCNS3@p.R120C 1 0.225806452 ENSG00000170745 chr2:17931366-17931366;C/T missense_variant False KCNT1@p.A1149V 1 0.145631068 ENSG00000107147 chr9:135788121-135788121;C/T missense_variant False KCNQ5@p.K418N 1 0.147058824 ENSG00000185760 chr6:73133427-73133427;G/C missense_variant False KCNQ5@p.E610Q 1 0.408163265 ENSG00000185760 chr6:73192683-73192683;G/C missense_variant False KCNN1@p.E184K 1 0.435897436 ENSG00000105642 chr19:17981760-17981760;G/A missense_variant False KCNN2@p.R557W 1 0.412587413 ENSG00000080709 chr5:114496111-114496111;C/T missense_variant False KCNN3@p.S123F 1 0.079710145 ENSG00000143603 chr1:154869597-154869597;G/A missense_variant False KCNN3@p.S104Y 1 0.44 ENSG00000143603 chr1:154869654-154869654;G/T missense_variant False KCNN3@p.Q578R 1 0.5 ENSG00000143603 chr1:154725929-154725929;T/C missense_variant False KCNN3@p.I199M 1 0.096385542 ENSG00000143603 chr1:154869368-154869368;G/C missense_variant False KCNN3@p.A336T 1 0.16 ENSG00000143603 chr1:154822112-154822112;C/T missense_variant False KCNN2@p.S248Y 1 0.246575342 ENSG00000080709 chr5:114404598-114404598;C/A missense_variant False KCNN2@p.P228L 1 0.118881119 ENSG00000080709 chr5:114404538-114404538;C/T missense_variant False KCNQ5@p.E455K 1 0.22 ENSG00000185760 chr6:73133536-73133536;G/A missense_variant False KCNN2@p.K505N 1 0.181395349 ENSG00000080709 chr5:114495957-114495957;G/C missense_variant False KCNN2@p.A483E 1 0.307692308 ENSG00000080709 chr5:114493468-114493468;C/A missense_variant False KCNN1@p.W209R 1 0.282051282 ENSG00000105642 chr19:17981835-17981835;T/C missense_variant False KCNN1@p.V46L 1 0.25 ENSG00000105642 chr19:17974024-17974024;G/T missense_variant False KCNN1@p.R212W 1 0.5 ENSG00000105642 chr19:17981844-17981844;C/T missense_variant False KCNN1@p.E375K 1 0.290322581 ENSG00000105642 chr19:17988478-17988478;G/A missense_variant False KCNN4@p.E20K 1 0.378205128 ENSG00000104783 chr19:43780804-43780804;C/T missense_variant False KCNN4@p.F325L 1 0.274193548 ENSG00000104783 chr19:43769516-43769516;G/C missense_variant False KCNN4@p.T247S 1 0.352941176 ENSG00000104783 chr19:43772080-43772080;T/A missense_variant False KCNQ1@p.E450Q 1 0.133333333 ENSG00000053918 chr11:2588809-2588809;G/C missense_variant False KCNQ1@p.R583C 1 0.384615385 ENSG00000053918 chr11:2777990-2777990;C/T missense_variant False KCNQ2@p.A460D 1 0.161290323 ENSG00000075043 chr20:63415049-63415049;G/T missense_variant False KCNQ2@p.F346L 1 0.153846154 ENSG00000075043 chr20:63433889-63433889;G/C missense_variant False KCNQ3@p.E170K 1 0.424242424 ENSG00000184156 chr8:132184337-132184337;C/T missense_variant False KCNQ3@p.E488K 1 0.388535032 ENSG00000184156 chr8:132141132-132141132;C/T missense_variant False KCNQ3@p.L466V 1 0.288135593 ENSG00000184156 chr8:132141198-132141198;A/C missense_variant False KCNQ3@p.L792M 1 0.181818182 ENSG00000184156 chr8:132129507-132129507;G/T missense_variant False KCNQ3@p.P287T 1 0.420289855 ENSG00000184156 chr8:132175527-132175527;G/T missense_variant False KCNQ3@p.P457H 1 0.322834646 ENSG00000184156 chr8:132141224-132141224;G/T missense_variant False KCNQ3@p.P717S 1 0.073170732 ENSG00000184156 chr8:132129732-132129732;G/A missense_variant False KCNQ3@p.R183Q 1 0.170731707 ENSG00000184156 chr8:132184297-132184297;C/T missense_variant False KCNQ3@p.V212M 1 0.253521127 ENSG00000184156 chr8:132180300-132180300;C/T missense_variant False KCNQ3@p.V730F 1 0.310344828 ENSG00000184156 chr8:132129693-132129693;C/A missense_variant False KATNIP@p.R1054W 1 0.175675676 ENSG00000047578 chr16:27750120-27750120;C/T missense_variant False KATNIP@p.P1005L 1 0.333333333 ENSG00000047578 chr16:27749974-27749974;C/T missense_variant False KDM3B@p.R1449M 1 0.224358974 ENSG00000120733 chr5:138425517-138425517;G/T missense_variant False ITSN1@p.R453Q 1 0.527777778 ENSG00000205726 chr21:33774781-33774781;G/A missense_variant False ITSN2@p.E364Q 1 0.434343434 ENSG00000198399 chr2:24300163-24300163;C/G missense_variant False ITSN2@p.E1145K 1 0.304347826 ENSG00000198399 chr2:24246273-24246273;C/T missense_variant False ITSN2@p.A82V 1 0.401869159 ENSG00000198399 chr2:24312319-24312319;G/A missense_variant False ITSN2@p.A824V 1 0.1 ENSG00000198399 chr2:24261627-24261627;G/A missense_variant False ITSN1@p.V942I 1 0.085427136 ENSG00000205726 chr21:33818363-33818363;G/A missense_variant False ITSN1@p.S110C 1 0.065217391 ENSG00000205726 chr21:33735187-33735187;C/G missense_variant False ITSN1@p.Q551R 1 0.115646259 ENSG00000205726 chr21:33781516-33781516;A/G missense_variant False ITSN2@p.I1169M 1 0.285714286 ENSG00000198399 chr2:24246199-24246199;G/C missense_variant False ITSN1@p.I1566M 1 0.215686275 ENSG00000205726 chr21:33885062-33885062;C/G missense_variant False ITSN1@p.F1282C 1 0.375 ENSG00000205726 chr21:33858747-33858747;T/G missense_variant False ITSN1@p.E678K 1 0.315068493 ENSG00000205726 chr21:33797458-33797458;G/A missense_variant False ITSN1@p.E643Q 1 0.333333333 ENSG00000205726 chr21:33794443-33794443;G/C missense_variant False ITSN1@p.E483Q 1 0.236363636 ENSG00000205726 chr21:33774870-33774870;G/C missense_variant False ITSN1@p.E1422K 1 0.462585034 ENSG00000205726 chr21:33875444-33875444;G/A missense_variant False ITSN2@p.E736K 1 0.064748201 ENSG00000198399 chr2:24271817-24271817;C/T missense_variant False ITSN2@p.K73N 1 0.21719457 ENSG00000198399 chr2:24312345-24312345;C/G missense_variant False JAKMIP3@p.R61H 1 0.5 ENSG00000188385 chr10:132117123-132117123;G/A missense_variant False IVL@p.V552Pfs*12 1 0.173913043 ENSG00000163207 chr1:152911447-152911465;CCAGGTCCAAGACATTCAA/- frameshift_variant False IVNS1ABP@p.E183K 1 0.318181818 ENSG00000116679 chr1:185307124-185307124;C/T missense_variant False IVNS1ABP@p.D344H 1 0.289855072 ENSG00000116679 chr1:185301062-185301062;C/G missense_variant False IVNS1ABP@p.D309N 1 0.196428571 ENSG00000116679 chr1:185301167-185301167;C/T missense_variant False IVNS1ABP@p.D154N 1 0.459459459 ENSG00000116679 chr1:185307560-185307560;C/T missense_variant False IVNS1ABP@p.D11N 1 0.5 ENSG00000116679 chr1:185309463-185309463;C/T missense_variant False IVL@p.V578A 1 0.208333333 ENSG00000163207 chr1:152911530-152911530;T/C missense_variant False ITSN2@p.S889L 1 0.278481013 ENSG00000198399 chr2:24261122-24261122;G/A missense_variant False ITSN2@p.L636V 1 0.376623377 ENSG00000198399 chr2:24284801-24284801;G/C missense_variant False ITSN2@p.S576L 1 0.230769231 ENSG00000198399 chr2:24286348-24286348;G/A missense_variant False ITSN2@p.S346L 1 0.327272727 ENSG00000198399 chr2:24301198-24301198;G/A missense_variant False ITSN2@p.R476T 1 0.247191011 ENSG00000198399 chr2:24298732-24298732;C/G missense_variant False ITSN2@p.R446T 1 0.197368421 ENSG00000198399 chr2:24299916-24299916;C/G missense_variant False ITSN2@p.Q473E 1 0.113636364 ENSG00000198399 chr2:24298742-24298742;G/C missense_variant False ITSN2@p.M776I 1 0.423076923 ENSG00000198399 chr2:24270698-24270698;C/T missense_variant False ITSN1@p.D287N 1 0.113636364 ENSG00000205726 chr21:33765945-33765945;G/A missense_variant False ITPRIPL2@p.S89L 1 0.217391304 ENSG00000205730 chr16:19114727-19114727;C/T missense_variant False ITPRIPL2@p.S404L 1 0.132867133 ENSG00000205730 chr16:19115672-19115672;C/T missense_variant False ITPR3@p.S2437L 1 0.578947368 ENSG00000096433 chr6:33691699-33691699;C/T missense_variant False ITPRID1@p.V499I 1 0.421052632 ENSG00000180347 chr7:31642865-31642865;G/A missense_variant False ITPRID1@p.Q763K 1 0.048387097 ENSG00000180347 chr7:31643657-31643657;C/A missense_variant False ITPRID1@p.P671L 1 0.342857143 ENSG00000180347 chr7:31643382-31643382;C/T missense_variant False ITPRID1@p.M522I 1 0.179856115 ENSG00000180347 chr7:31642936-31642936;G/A missense_variant False ITPR3@p.V1904I 1 0.090909091 ENSG00000096433 chr6:33686095-33686095;G/A missense_variant False ITPR3@p.S688L 1 0.357142857 ENSG00000096433 chr6:33669030-33669030;C/T missense_variant False ITPR3@p.M901L 1 0.441860465 ENSG00000096433 chr6:33671279-33671279;A/T missense_variant False ITPRIPL2@p.R417S 1 0.139013453 ENSG00000205730 chr16:19115710-19115710;C/A missense_variant False ITPR3@p.E2587Q 1 0.4375 ENSG00000096433 chr6:33693679-33693679;G/C missense_variant False ITPR2@p.S1741L 1 0.207317073 ENSG00000123104 chr12:26494301-26494301;G/A missense_variant False ITPR2@p.S1532L 1 0.458823529 ENSG00000123104 chr12:26578748-26578748;G/A missense_variant False ITPR2@p.R2153G 1 0.208333333 ENSG00000123104 chr12:26439313-26439313;G/C missense_variant False ITPR2@p.R2033Q 1 0.27027027 ENSG00000123104 chr12:26481156-26481156;C/T missense_variant False ITPR2@p.R1579I 1 0.14516129 ENSG00000123104 chr12:26561847-26561847;C/A missense_variant False ITPRID1@p.Y551F 1 0.138888889 ENSG00000180347 chr7:31643022-31643022;A/T missense_variant False ITPRID2@p.E1176Q 1 0.138297872 ENSG00000138434 chr2:181922263-181922263;G/C missense_variant False ITPRID2@p.L663V 1 0.253968254 ENSG00000138434 chr2:181915627-181915627;C/G missense_variant False ITPRID2@p.P1190A 1 0.11627907 ENSG00000138434 chr2:181922305-181922305;C/G missense_variant False ITPRID2@p.S548L 1 0.070175439 ENSG00000138434 chr2:181915283-181915283;C/T missense_variant False ITPRIP@p.E70Q 1 0.120481928 ENSG00000148841 chr10:104315844-104315844;C/G missense_variant False ITPRIP@p.K40N 1 0.222222222 ENSG00000148841 chr10:104315932-104315932;C/G missense_variant False ITPRIP@p.Q132Pfs*13 1 0.253521127 ENSG00000148841 chr10:104315649-104315657;TGAGGCCCT/G frameshift_variant False ITPRIPL1@p.A18T 1 0.071428571 ENSG00000198885 chr2:96326683-96326683;G/A missense_variant False ITPRIPL1@p.D385N 1 0.98 ENSG00000198885 chr2:96327784-96327784;G/A missense_variant False ITPRIPL1@p.D99N 1 0.196428571 ENSG00000198885 chr2:96326926-96326926;G/A missense_variant False ITPRIPL1@p.E208K 1 0.171974522 ENSG00000198885 chr2:96327253-96327253;G/A missense_variant False ITPRIPL1@p.E6Q 1 0.135135135 ENSG00000198885 chr2:96326647-96326647;G/C missense_variant False ITPRIPL1@p.Q70H 1 0.16 ENSG00000198885 chr2:96326841-96326841;G/T missense_variant False ITPRIPL2@p.G299C 1 0.513888889 ENSG00000205730 chr16:19115356-19115356;G/T missense_variant False ITPRIPL2@p.L373H 1 0.194594595 ENSG00000205730 chr16:19115579-19115579;T/A missense_variant False ITPRIPL2@p.R253C 1 0.235849057 ENSG00000205730 chr16:19115218-19115218;C/T missense_variant False IVNS1ABP@p.P445S 1 0.296296296 ENSG00000116679 chr1:185300253-185300253;G/A missense_variant False IVNS1ABP@p.Q409E 1 0.142857143 ENSG00000116679 chr1:185300454-185300454;G/C missense_variant False IVNS1ABP@p.R383Q 1 0.147540984 ENSG00000116679 chr1:185300531-185300531;C/T missense_variant False JAK1@p.R532C 1 0.393939394 ENSG00000162434 chr1:64855563-64855563;G/A missense_variant True JAK2@p.R300K 1 0.14516129 ENSG00000096968 chr9:5054847-5054847;G/A missense_variant True JAK2@p.L144V 1 0.590909091 ENSG00000096968 chr9:5044482-5044482;C/G missense_variant True JAK2@p.E889K 1 0.638888889 ENSG00000096968 chr9:5089767-5089767;G/A missense_variant True JAK1@p.T533M 1 0.5 ENSG00000162434 chr1:64855559-64855559;G/A missense_variant True JAK1@p.R997W 1 0.108108108 ENSG00000162434 chr1:64838083-64838083;G/A missense_variant True JAK1@p.R629K 1 0.1484375 ENSG00000162434 chr1:64847545-64847545;C/T missense_variant True JAK1@p.Q980L 1 0.206349206 ENSG00000162434 chr1:64838493-64838493;T/A missense_variant True JAG1@p.R1022L 1 0.106666667 ENSG00000101384 chr20:10640917-10640917;C/A missense_variant False JAK1@p.L964R 1 0.369230769 ENSG00000162434 chr1:64838541-64838541;A/C missense_variant True JAK1@p.K860Nfs*16 1 0.185483871 ENSG00000162434 chr1:64841314-64841314;T/- frameshift_variant True JAK1@p.G1097C 1 0.18018018 ENSG00000162434 chr1:64835476-64835476;C/A missense_variant True JAGN1@p.I37M 1 0.049019608 ENSG00000171135 chr3:9892936-9892936;C/G missense_variant False JAGN1@p.A113T 1 0.542857143 ENSG00000171135 chr3:9893162-9893162;G/A missense_variant False JAG2@p.S993C 1 0.212765957 ENSG00000184916 chr14:105145036-105145036;G/C missense_variant False JAK2@p.S18C 1 0.232323232 ENSG00000096968 chr9:5022040-5022040;C/G missense_variant True JAK2@p.S364C 1 0.126984127 ENSG00000096968 chr9:5064917-5064917;C/G missense_variant True JAK3@p.D661H 1 0.159090909 ENSG00000105639 chr19:17835149-17835149;C/G missense_variant True JAK3@p.D707H 1 0.225 ENSG00000105639 chr19:17834932-17834932;C/G missense_variant True JAK3@p.E1115K 1 0.374045802 ENSG00000105639 chr19:17826775-17826775;C/T missense_variant True JAK3@p.E542K 1 0.109090909 ENSG00000105639 chr19:17838009-17838009;C/T missense_variant True JAK3@p.F207L 1 0.5 ENSG00000105639 chr19:17842556-17842556;G/T missense_variant True JAK3@p.N526D 1 0.281690141 ENSG00000105639 chr19:17838057-17838057;T/C missense_variant True JAK3@p.S1005C 1 0.313253012 ENSG00000105639 chr19:17830585-17830585;G/C missense_variant True JAKMIP1@p.E13K 1 0.272727273 ENSG00000152969 chr4:6112814-6112814;C/T missense_variant False JAKMIP1@p.E602Q 1 0.331632653 ENSG00000152969 chr4:6054052-6054052;C/G missense_variant False JAKMIP1@p.R58C 1 0.369565217 ENSG00000152969 chr4:6105925-6105925;G/A missense_variant False JAKMIP1@p.T116M 1 0.210526316 ENSG00000152969 chr4:6105750-6105750;G/A missense_variant False JAKMIP1@p.T512M 1 0.271604938 ENSG00000152969 chr4:6062337-6062337;G/A missense_variant False JAKMIP2@p.E573K 1 0.202614379 ENSG00000176049 chr5:147632739-147632739;C/T missense_variant False JAKMIP2@p.Q512E 1 0.185840708 ENSG00000176049 chr5:147637045-147637045;G/C missense_variant False JAKMIP2@p.R773T 1 0.46875 ENSG00000176049 chr5:147617939-147617939;C/G missense_variant False JAG1@p.Y721C 1 0.470588235 ENSG00000101384 chr20:10645208-10645208;T/C missense_variant False JAG1@p.P248S 1 0.404761905 ENSG00000101384 chr20:10656411-10656411;G/A missense_variant False IWS1@p.D482N 1 0.263157895 ENSG00000163166 chr2:127502838-127502838;C/T missense_variant False IZUMO1R@p.A93V 1 0.290322581 ENSG00000183560 chr11:94306652-94306652;C/T missense_variant False IZUMO2@p.T93M 1 0.177419355 ENSG00000161652 chr19:50162768-50162768;G/A missense_variant False IZUMO2@p.S194F 1 0.355932203 ENSG00000161652 chr19:50154642-50154642;G/A missense_variant False IZUMO2@p.R216P 1 0.102272727 ENSG00000161652 chr19:50152628-50152628;C/G missense_variant False IZUMO2@p.Q214E 1 0.225 ENSG00000161652 chr19:50152635-50152635;G/C missense_variant False IZUMO2@p.G98C 1 0.339449541 ENSG00000161652 chr19:50162754-50162754;C/A missense_variant False IZUMO1R@p.D135N 1 0.454545455 ENSG00000183560 chr11:94307240-94307240;G/A missense_variant False IZUMO1@p.R56M 1 0.279220779 ENSG00000182264 chr19:48745693-48745693;C/A missense_variant False JAG1@p.L989F 1 0.424657534 ENSG00000101384 chr20:10641194-10641194;C/G missense_variant False IZUMO1@p.R314C 1 0.243902439 ENSG00000182264 chr19:48741021-48741021;G/A missense_variant False IYD@p.I152M 1 0.105263158 ENSG00000009765 chr6:150392430-150392430;C/G missense_variant False IYD@p.G244V 1 0.113333333 ENSG00000009765 chr6:150398098-150398098;G/T missense_variant False IYD@p.D144H 1 0.102222222 ENSG00000009765 chr6:150392404-150392404;G/C missense_variant False IWS1@p.S159F 1 0.311258278 ENSG00000163166 chr2:127505427-127505427;G/A missense_variant False IWS1@p.R544K 1 0.228021978 ENSG00000163166 chr2:127496083-127496083;C/T missense_variant False IZUMO4@p.E63K 1 0.509803922 ENSG00000099840 chr19:2097132-2097132;G/A missense_variant False JADE1@p.N319S 1 0.944444444 ENSG00000077684 chr4:128857429-128857429;A/G missense_variant False JADE1@p.R334H 1 0.40625 ENSG00000077684 chr4:128861723-128861723;G/A missense_variant False JADE1@p.S35C 1 0.403846154 ENSG00000077684 chr4:128843004-128843004;C/G missense_variant False JADE1@p.S544C 1 0.087209302 ENSG00000077684 chr4:128871364-128871364;C/G missense_variant False JADE2@p.E412K 1 0.145833333 ENSG00000043143 chr5:134566380-134566380;G/A missense_variant False JADE2@p.R393C 1 0.150943396 ENSG00000043143 chr5:134566323-134566323;C/T missense_variant False JADE2@p.R480G 1 0.729166667 ENSG00000043143 chr5:134573648-134573648;A/G missense_variant False JADE2@p.S269R 1 0.105263158 ENSG00000043143 chr5:134562320-134562320;A/C missense_variant False JADE3@p.E454K 1 0.25 ENSG00000102221 chrX:47054545-47054545;G/A missense_variant False JADE3@p.L317F 1 0.833333333 ENSG00000102221 chrX:47039044-47039044;G/T missense_variant False JADE3@p.V135L 1 0.260273973 ENSG00000102221 chrX:47024842-47024842;G/C missense_variant False JAG1@p.D189V 1 0.294117647 ENSG00000101384 chr20:10658596-10658596;T/A missense_variant False JAG1@p.E977Q 1 0.06097561 ENSG00000101384 chr20:10641232-10641232;C/G missense_variant False JAG1@p.G888E 1 0.286956522 ENSG00000101384 chr20:10641802-10641802;C/T missense_variant False JAG1@p.I1136M 1 0.102564103 ENSG00000101384 chr20:10639747-10639747;G/C missense_variant False JAG1@p.I778M 1 0.246575342 ENSG00000101384 chr20:10644873-10644873;G/C missense_variant False ITPR2@p.N1546Kfs*15 1 0.3 ENSG00000123104 chr12:26561945-26561946;-/T frameshift_variant False ITPR2@p.L2304V 1 0.15 ENSG00000123104 chr12:26427948-26427948;G/C missense_variant False ITPR2@p.L1867S 1 0.171717172 ENSG00000123104 chr12:26486315-26486315;A/G missense_variant False ITIH1@p.D672H 1 0.333333333 ENSG00000055957 chr3:52788240-52788240;G/C missense_variant False ITIH2@p.D460N 1 0.058823529 ENSG00000151655 chr10:7730050-7730050;G/A missense_variant False ITIH1@p.S64F 1 0.382978723 ENSG00000055957 chr3:52778392-52778392;C/T missense_variant False ITIH1@p.S30L 1 0.121212121 ENSG00000055957 chr3:52777704-52777704;C/T missense_variant False ITIH1@p.R264P 1 0.233766234 ENSG00000055957 chr3:52782043-52782043;G/C missense_variant False ITIH1@p.K781N 1 0.052631579 ENSG00000055957 chr3:52790770-52790770;G/C missense_variant False ITIH1@p.F536L 1 0.666666667 ENSG00000055957 chr3:52786309-52786309;C/A missense_variant False ITIH1@p.D261N 1 0.215686275 ENSG00000055957 chr3:52782033-52782033;G/A missense_variant False ITGB8@p.H140Y 1 0.164835165 ENSG00000105855 chr7:20379080-20379080;C/T missense_variant False ITGBL1@p.Q26E 1 0.36036036 ENSG00000198542 chr13:101452909-101452909;C/G missense_variant False ITGBL1@p.Q119K 1 0.213675214 ENSG00000198542 chr13:101567737-101567737;C/A missense_variant False ITGBL1@p.E93K 1 0.333333333 ENSG00000198542 chr13:101454061-101454061;G/A missense_variant False ITGB8@p.S247Y 1 0.268817204 ENSG00000105855 chr7:20380770-20380770;C/A missense_variant False ITGB8@p.R21G 1 0.636363636 ENSG00000105855 chr7:20331867-20331867;C/G missense_variant False ITGB8@p.R185C 1 0.14893617 ENSG00000105855 chr7:20379215-20379215;C/T missense_variant False ITIH2@p.D702N 1 0.315508021 ENSG00000151655 chr10:7743154-7743154;G/A missense_variant False ITIH2@p.D721H 1 0.050691244 ENSG00000151655 chr10:7743211-7743211;G/C missense_variant False ITIH2@p.E134D 1 0.090909091 ENSG00000151655 chr10:7713220-7713220;G/C missense_variant False ITIH2@p.E272K 1 0.380530973 ENSG00000151655 chr10:7721724-7721724;G/A missense_variant False ITIH2@p.E778K 1 0.304878049 ENSG00000151655 chr10:7744204-7744204;G/A missense_variant False ITIH2@p.F291S 1 0.084507042 ENSG00000151655 chr10:7723455-7723455;T/C missense_variant False ITIH2@p.L828V 1 0.12 ENSG00000151655 chr10:7744864-7744864;C/G missense_variant False ITIH2@p.M326I 1 0.317073171 ENSG00000151655 chr10:7723561-7723561;G/T missense_variant False ITIH2@p.T777S 1 0.170454545 ENSG00000151655 chr10:7744202-7744202;C/G missense_variant False ITIH3@p.E107K 1 0.363636364 ENSG00000162267 chr3:52796776-52796776;G/A missense_variant False ITIH3@p.H444R 1 0.511627907 ENSG00000162267 chr3:52801094-52801094;A/G missense_variant False ITIH3@p.R546Q 1 0.260869565 ENSG00000162267 chr3:52802734-52802734;G/A missense_variant False ITIH4@p.D567Y 1 0.157894737 ENSG00000055955 chr3:52820766-52820766;C/A missense_variant False ITIH4@p.E784K 1 0.428571429 ENSG00000055955 chr3:52817005-52817005;C/T missense_variant False ITIH4@p.M285I 1 0.359649123 ENSG00000055955 chr3:52824863-52824863;C/T missense_variant False ITIH4@p.M721I 1 0.238636364 ENSG00000055955 chr3:52818273-52818273;C/T missense_variant False ITIH4@p.P739S 1 0.390625 ENSG00000055955 chr3:52818133-52818133;G/A missense_variant False ITGB8@p.N714K 1 0.368715084 ENSG00000105855 chr7:20409733-20409733;T/A missense_variant False ITGB8@p.E509D 1 0.243902439 ENSG00000105855 chr7:20401966-20401966;G/C missense_variant False ITIH4@p.V803M 1 0.103658537 ENSG00000055955 chr3:52816948-52816948;C/T missense_variant False ITGB4@p.G235C 1 0.62962963 ENSG00000132470 chr17:75729401-75729401;G/T missense_variant False ITGB4@p.R989T 1 0.098039216 ENSG00000132470 chr17:75743716-75743716;G/C missense_variant False ITGB4@p.R59Q 1 0.196969697 ENSG00000132470 chr17:75727417-75727417;G/A missense_variant False ITGB4@p.P125Q 1 0.378378378 ENSG00000132470 chr17:75727760-75727760;C/A missense_variant False ITGB4@p.M1116K 1 0.179487179 ENSG00000132470 chr17:75750141-75750141;T/A missense_variant False ITGB4@p.L17F 1 0.061538462 ENSG00000132470 chr17:75724754-75724754;G/C missense_variant False ITGB4@p.G380S 1 0.126984127 ENSG00000132470 chr17:75731291-75731291;G/A missense_variant False ITGB4@p.F1375L 1 0.5 ENSG00000132470 chr17:75753781-75753781;C/G missense_variant False ITGB8@p.E393K 1 0.314285714 ENSG00000105855 chr7:20398890-20398890;G/A missense_variant False ITGB4@p.E676K 1 0.307692308 ENSG00000132470 chr17:75737357-75737357;G/A missense_variant False ITGB4@p.C590Y 1 0.084615385 ENSG00000132470 chr17:75736295-75736295;G/A missense_variant False ITGB3BP@p.I125M 1 0.181818182 ENSG00000142856 chr1:63454432-63454432;G/C missense_variant False ITGB3BP@p.E15K 1 0.15625 ENSG00000142856 chr1:63508533-63508533;C/T missense_variant False ITGB3@p.Y773H 1 0.303571429 ENSG00000259207 chr17:47310154-47310154;T/C missense_variant False ITGB3@p.T784M 1 0.8125 ENSG00000259207 chr17:47310188-47310188;C/T missense_variant False ITGB4@p.S1517Y 1 0.172413793 ENSG00000132470 chr17:75754807-75754807;C/A missense_variant False ITGB4@p.S344L 1 0.191823899 ENSG00000132470 chr17:75730903-75730903;C/T missense_variant False ITGB4@p.S397F 1 0.166666667 ENSG00000132470 chr17:75731343-75731343;C/T missense_variant False ITGB5@p.N460D 1 0.068181818 ENSG00000082781 chr3:124796703-124796703;T/C missense_variant False ITGB5@p.R266Q 1 0.160714286 ENSG00000082781 chr3:124821458-124821458;C/T missense_variant False ITGB5@p.S649F 1 0.75 ENSG00000082781 chr3:124769084-124769084;G/A missense_variant False ITGB6@p.C649Y 1 0.333333333 ENSG00000115221 chr2:160123826-160123826;C/T missense_variant False ITGB6@p.D148N 1 0.514851485 ENSG00000115221 chr2:160195520-160195520;C/T missense_variant False ITGB6@p.H51Y 1 0.637795276 ENSG00000115221 chr2:160196411-160196411;G/A missense_variant False ITGB6@p.I327M 1 0.487804878 ENSG00000115221 chr2:160169248-160169248;G/C missense_variant False ITGB6@p.R749Q 1 0.488372093 ENSG00000115221 chr2:160107701-160107701;C/T missense_variant False ITGB6@p.S373C 1 0.136842105 ENSG00000115221 chr2:160138189-160138189;G/C missense_variant False ITGB6@p.S765F 1 0.925925926 ENSG00000115221 chr2:160101809-160101809;G/A missense_variant False ITGB7@p.I682V 1 0.058823529 ENSG00000139626 chr12:53192441-53192441;T/C missense_variant False ITGB7@p.R579S 1 0.526315789 ENSG00000139626 chr12:53192902-53192902;G/T missense_variant False ITGB8@p.C574S 1 0.256410256 ENSG00000105855 chr7:20404660-20404660;T/A missense_variant False ITGB8@p.E387Gfs*11 1 0.431818182 ENSG00000105855 chr7:20398868-20398881;TTCAGAAGTGAAAG/- frameshift_variant False ITIH4@p.R409L 1 0.315789474 ENSG00000055955 chr3:52823950-52823950;C/A missense_variant False ITIH5@p.E634Q 1 0.392857143 ENSG00000123243 chr10:7576531-7576531;C/G missense_variant False ITPR2@p.L184F 1 0.275 ENSG00000123104 chr12:26716216-26716216;C/G missense_variant False ITPKC@p.S440R 1 0.533333333 ENSG00000086544 chr19:40729266-40729266;C/G missense_variant False ITPR1@p.L1502F 1 0.075 ENSG00000150995 chr3:4699938-4699938;G/C missense_variant False ITPR1@p.G2690V 1 0.25 ENSG00000150995 chr3:4836838-4836838;G/T missense_variant False ITPR1@p.E707D 1 0.183673469 ENSG00000150995 chr3:4670843-4670843;G/C missense_variant False ITPR1@p.E1789K 1 0.636363636 ENSG00000150995 chr3:4735199-4735199;G/A missense_variant False ITPR1@p.E1290K 1 0.463414634 ENSG00000150995 chr3:4691210-4691210;G/A missense_variant False ITPR1@p.A1238T 1 0.212328767 ENSG00000150995 chr3:4688531-4688531;G/A missense_variant False ITPKC@p.R259_G265del 1 0.288135593 ENSG00000086544 chr19:40717910-40717930;AGGAAACAGCCTGGCACTGGT/- inframe_deletion False ITPKB@p.E838K 1 0.359375 ENSG00000143772 chr1:226639598-226639598;C/T missense_variant False ITPKC@p.E525K 1 0.096385542 ENSG00000086544 chr19:40733263-40733263;G/A missense_variant False ITPKC@p.E437Q 1 0.186666667 ENSG00000086544 chr19:40729255-40729255;G/C missense_variant False ITPKC@p.E351K 1 0.264705882 ENSG00000086544 chr19:40718186-40718186;G/A missense_variant False ITPKC@p.E299K 1 0.465753425 ENSG00000086544 chr19:40718030-40718030;G/A missense_variant False ITPKB@p.Q550E 1 0.310344828 ENSG00000143772 chr1:226735811-226735811;G/C missense_variant False ITPKB@p.P35L 1 0.266666667 ENSG00000143772 chr1:226737355-226737355;G/A missense_variant False ITPR1@p.L2357V 1 0.155555556 ENSG00000150995 chr3:4800586-4800586;C/G missense_variant False ITPR1@p.M147I 1 0.157894737 ENSG00000150995 chr3:4642167-4642167;G/A missense_variant False ITPR1@p.M2173V 1 0.125 ENSG00000150995 chr3:4783846-4783846;A/G missense_variant False ITPR1@p.M2287I 1 0.193548387 ENSG00000150995 chr3:4795141-4795141;G/A missense_variant False ITPR1@p.R2511K 1 0.197183099 ENSG00000150995 chr3:4813229-4813229;G/A missense_variant False ITPR1@p.S2347L 1 0.214285714 ENSG00000150995 chr3:4800557-4800557;C/T missense_variant False ITPR1@p.T594S 1 0.721311475 ENSG00000150995 chr3:4667443-4667443;A/T missense_variant False ITPR2@p.D1750H 1 0.288888889 ENSG00000123104 chr12:26494275-26494275;C/G missense_variant False ITPR2@p.D334N 1 0.274509804 ENSG00000123104 chr12:26686629-26686629;C/T missense_variant False ITPR2@p.D540H 1 0.032258065 ENSG00000123104 chr12:26663780-26663780;C/G missense_variant False ITPR2@p.E1362Q 1 0.095744681 ENSG00000123104 chr12:26597053-26597053;C/G missense_variant False ITPR2@p.E1394K 1 0.203389831 ENSG00000123104 chr12:26596957-26596957;C/T missense_variant False ITPR2@p.E2379Q 1 0.236842105 ENSG00000123104 chr12:26415474-26415474;C/G missense_variant False ITPR2@p.E42K 1 0.274509804 ENSG00000123104 chr12:26790196-26790196;C/T missense_variant False ITPR2@p.G1304D 1 0.135135135 ENSG00000123104 chr12:26599236-26599236;C/T missense_variant False ITPR2@p.I2646S 1 0.507462687 ENSG00000123104 chr12:26340249-26340249;A/C missense_variant False ITPR2@p.K997N 1 0.55 ENSG00000123104 chr12:26628106-26628106;C/G missense_variant False ITPKB@p.N630S 1 0.398373984 ENSG00000143772 chr1:226735570-226735570;T/C missense_variant False ITPKB@p.E583K 1 0.513513514 ENSG00000143772 chr1:226735712-226735712;C/T missense_variant False ITIH5@p.N295I 1 0.057142857 ENSG00000123243 chr10:7616037-7616037;T/A missense_variant False ITIH6@p.S973F 1 1.0 ENSG00000102313 chrX:54757156-54757156;G/A missense_variant False ITLN1@p.S284Y 1 0.575 ENSG00000179914 chr1:160876755-160876755;G/T missense_variant False ITLN1@p.L309F 1 0.158730159 ENSG00000179914 chr1:160876681-160876681;G/A missense_variant False ITK@p.W125C 1 0.434782609 ENSG00000113263 chr5:157214240-157214240;G/C missense_variant False ITK@p.S606F 1 0.338028169 ENSG00000113263 chr5:157252632-157252632;C/T missense_variant False ITK@p.R246Q 1 0.9 ENSG00000113263 chr5:157232363-157232363;G/A missense_variant False ITK@p.A191T 1 0.457364341 ENSG00000113263 chr5:157222938-157222938;G/A missense_variant False ITIH6@p.R1215M 1 0.333333333 ENSG00000102313 chrX:54751089-54751089;C/A missense_variant False ITPKA@p.R372W 1 0.166666667 ENSG00000137825 chr15:41502791-41502791;C/T missense_variant False ITIH6@p.P994H 1 0.431818182 ENSG00000102313 chrX:54757093-54757093;G/T missense_variant False ITIH6@p.P762L 1 0.071428571 ENSG00000102313 chrX:54757789-54757789;G/A missense_variant False ITIH6@p.L593F 1 0.346153846 ENSG00000102313 chrX:54758297-54758297;G/A missense_variant False ITIH6@p.E925K 1 0.515151515 ENSG00000102313 chrX:54757301-54757301;C/T missense_variant False ITIH5@p.P818T 1 0.32 ENSG00000123243 chr10:7566105-7566105;G/T missense_variant False ITIH5@p.P818H 1 0.323232323 ENSG00000123243 chr10:7566104-7566104;G/T missense_variant False ITLN1@p.T219A 1 0.053797468 ENSG00000179914 chr1:160880618-160880618;T/C missense_variant False ITLN2@p.R180K 1 0.853658537 ENSG00000158764 chr1:160950614-160950614;C/T missense_variant False ITLN2@p.V307I 1 0.210526316 ENSG00000158764 chr1:160945199-160945199;C/T missense_variant False ITM2A@p.E257Q 1 0.311111111 ENSG00000078596 chrX:79361112-79361112;C/G missense_variant False ITM2B@p.E125Q 1 0.206896552 ENSG00000136156 chr13:48256303-48256303;G/C missense_variant False ITM2B@p.F217Lfs*46 1 0.401459854 ENSG00000136156 chr13:48258880-48258883;TTTC/- frameshift_variant False ITM2B@p.I115S 1 0.151162791 ENSG00000136156 chr13:48256274-48256274;T/G missense_variant False ITM2B@p.R221Q 1 0.108695652 ENSG00000136156 chr13:48258894-48258894;G/A missense_variant False ITM2C@p.E200K 1 0.333333333 ENSG00000135916 chr2:230877436-230877436;G/A missense_variant False ITM2C@p.K50N 1 0.166666667 ENSG00000135916 chr2:230873446-230873446;G/C missense_variant False ITPA@p.E166D 1 0.137931034 ENSG00000125877 chr20:3223375-3223375;G/C missense_variant False ITPK1@p.E260K 1 0.23655914 ENSG00000100605 chr14:92946454-92946454;C/T missense_variant False ITPK1@p.P257R 1 0.36 ENSG00000100605 chr14:92946462-92946462;G/C missense_variant False ITPK1@p.S258R 1 0.138888889 ENSG00000100605 chr14:92946460-92946460;T/G missense_variant False ITPK1@p.V63I 1 0.09375 ENSG00000100605 chr14:93016735-93016735;C/T missense_variant False ITPKA@p.L293P 1 0.257142857 ENSG00000137825 chr15:41502071-41502071;T/C missense_variant False ITPKA@p.R357C 1 0.324324324 ENSG00000137825 chr15:41502462-41502462;C/T missense_variant False JAKMIP3@p.R356C 1 0.484848485 ENSG00000188385 chr10:132136026-132136026;C/T missense_variant False JAKMIP3@p.R820T 1 0.114285714 ENSG00000188385 chr10:132164710-132164710;G/C missense_variant False KATNIP@p.M1581I 1 0.5625 ENSG00000047578 chr16:27777911-27777911;G/A missense_variant False KARS1@p.E45Q 1 0.372881356 ENSG00000065427 chr16:75641653-75641653;C/G missense_variant False KASH5@p.R174Q 1 0.456140351 ENSG00000161609 chr19:49398035-49398035;G/A missense_variant False KASH5@p.E429Q 1 0.285714286 ENSG00000161609 chr19:49412983-49412983;G/C missense_variant False KARS1@p.R25T 1 0.322222222 ENSG00000065427 chr16:75641712-75641712;C/G missense_variant False KARS1@p.R148Q 1 0.145762712 ENSG00000065427 chr16:75636493-75636493;C/T missense_variant False KARS1@p.E69D 1 0.214285714 ENSG00000065427 chr16:75641579-75641579;C/G missense_variant False KARS1@p.E67Q 1 0.230769231 ENSG00000065427 chr16:75641587-75641587;C/G missense_variant False KARS1@p.E379Q 1 0.274193548 ENSG00000065427 chr16:75631533-75631533;C/G missense_variant False KASH5@p.R501S 1 0.47826087 ENSG00000161609 chr19:49417222-49417222;G/C missense_variant False KARS1@p.E15K 1 0.120689655 ENSG00000065427 chr16:75647597-75647597;C/T missense_variant False KANSL3@p.S766F 1 0.197368421 ENSG00000114982 chr2:96602793-96602793;G/A missense_variant False KANSL3@p.L260H 1 0.128571429 ENSG00000114982 chr2:96613504-96613504;A/T missense_variant False KANSL3@p.G820R 1 0.642857143 ENSG00000114982 chr2:96602218-96602218;C/G missense_variant False KANSL1L@p.L548P 1 0.541666667 ENSG00000144445 chr2:210075664-210075664;A/G missense_variant False KANSL1@p.V823L 1 0.156862745 ENSG00000120071 chr17:46038612-46038612;C/A missense_variant False KASH5@p.R361T 1 0.298245614 ENSG00000161609 chr19:49409219-49409219;G/C missense_variant False KAT14@p.G184A 1 0.2 ENSG00000149474 chr20:18159134-18159134;G/C missense_variant False JAM2@p.T56N 1 0.076335878 ENSG00000154721 chr21:25689899-25689899;C/A missense_variant False KAT2A@p.K635N 1 0.129310345 ENSG00000108773 chr17:42115006-42115006;C/A missense_variant False KAT2B@p.K509N 1 0.365853659 ENSG00000114166 chr3:20126018-20126018;G/C missense_variant False KAT2B@p.G517S 1 0.117647059 ENSG00000114166 chr3:20126040-20126040;G/A missense_variant False KAT2A@p.V526Cfs*11 1 0.188679245 ENSG00000108773 chr17:42117449-42117450;-/A frameshift_variant False KAT2A@p.R783Q 1 0.208333333 ENSG00000108773 chr17:42113815-42113815;C/T missense_variant False KAT2A@p.R392Q 1 0.405797101 ENSG00000108773 chr17:42118302-42118302;C/T missense_variant False KAT2A@p.Q252H 1 0.221052632 ENSG00000108773 chr17:42119662-42119662;C/G missense_variant False KAT2A@p.G832A 1 0.147540984 ENSG00000108773 chr17:42113668-42113668;C/G missense_variant False KAT14@p.I11M 1 0.490566038 ENSG00000149474 chr20:18142693-18142693;C/G missense_variant False KAT2A@p.E600D 1 0.134020619 ENSG00000108773 chr17:42115798-42115798;C/G missense_variant False KAT2A@p.E168Q 1 0.157407407 ENSG00000108773 chr17:42120332-42120332;C/G missense_variant False KAT14@p.S737L 1 0.094527363 ENSG00000149474 chr20:18187320-18187320;C/T missense_variant False KAT14@p.S394F 1 0.565217391 ENSG00000149474 chr20:18162455-18162455;C/T missense_variant False KAT14@p.R103* 1 0.449438202 ENSG00000149474 chr20:18145272-18145273;-/T frameshift_variant False KAT14@p.L315F 1 0.304347826 ENSG00000149474 chr20:18162082-18162082;G/C missense_variant False KANSL1@p.R875C 1 0.5 ENSG00000120071 chr17:46034201-46034201;G/A missense_variant False KANSL1@p.R474C 1 0.271929825 ENSG00000120071 chr17:46094571-46094571;G/A missense_variant False KANSL1@p.R304G 1 0.140350877 ENSG00000120071 chr17:46171234-46171234;G/C missense_variant False KANK1@p.T536M 1 0.272727273 ENSG00000107104 chr9:712373-712373;C/T missense_variant False KANK4@p.D928Y 1 0.164383562 ENSG00000132854 chr1:62247573-62247573;C/A missense_variant False KANK3@p.Y629F 1 0.3125 ENSG00000186994 chr19:8333064-8333064;T/A missense_variant False KANK2@p.R828H 1 0.169811321 ENSG00000197256 chr19:11169896-11169896;C/T missense_variant False KANK2@p.E842K 1 0.094339623 ENSG00000197256 chr19:11166590-11166590;C/T missense_variant False KANK2@p.E842D 1 0.134831461 ENSG00000197256 chr19:11166588-11166588;C/G missense_variant False KANK1@p.V754M 1 0.509803922 ENSG00000107104 chr9:713026-713026;G/A missense_variant False KANK1@p.S647F 1 0.214285714 ENSG00000107104 chr9:712706-712706;C/T missense_variant False KANSL1@p.R1065H 1 0.114285714 ENSG00000120071 chr17:46031597-46031597;C/T missense_variant False KANK1@p.S292C 1 0.307692308 ENSG00000107104 chr9:711641-711641;C/G missense_variant False KANK1@p.I873Qfs*10 1 0.270588235 ENSG00000107104 chr9:713382-713383;TA/- frameshift_variant False KANK1@p.E596D 1 0.227272727 ENSG00000107104 chr9:712554-712554;A/C missense_variant False KANK1@p.E1034Q 1 0.149700599 ENSG00000107104 chr9:732472-732472;G/C missense_variant False KANK1@p.A1184Efs*45 1 0.242424242 ENSG00000107104 chr9:738496-738497;-/AGATG frameshift_variant False KALRN@p.T469I 1 0.418604651 ENSG00000160145 chr3:124329988-124329988;C/T missense_variant False KANK4@p.E804K 1 0.266666667 ENSG00000132854 chr1:62263221-62263221;C/T missense_variant False KANK4@p.E845Q 1 0.294117647 ENSG00000132854 chr1:62263098-62263098;C/G missense_variant False KANK4@p.G354R 1 0.283333333 ENSG00000132854 chr1:62274044-62274044;C/T missense_variant False KANK4@p.H976D 1 0.217391304 ENSG00000132854 chr1:62238339-62238339;G/C missense_variant False KANK4@p.Q466H 1 0.189189189 ENSG00000132854 chr1:62273706-62273706;C/G missense_variant False KANK4@p.S489F 1 0.13592233 ENSG00000132854 chr1:62273638-62273638;G/A missense_variant False KANK4@p.S693I 1 0.360655738 ENSG00000132854 chr1:62268440-62268440;C/A missense_variant False KANK4@p.V257L 1 0.1 ENSG00000132854 chr1:62274335-62274335;C/A missense_variant False KANSL1@p.A756Gfs*25 1 0.25 ENSG00000120071 chr17:46039152-46039153;-/C frameshift_variant False KANSL1@p.D913N 1 0.294117647 ENSG00000120071 chr17:46033177-46033177;C/T missense_variant False KANSL1@p.E484K 1 0.259259259 ENSG00000120071 chr17:46082524-46082524;C/T missense_variant False KANSL1@p.E489Q 1 0.491525424 ENSG00000120071 chr17:46082509-46082509;C/G missense_variant False KANSL1@p.E903K 1 0.086419753 ENSG00000120071 chr17:46033417-46033417;C/T missense_variant False KANSL1@p.G540E 1 0.530120482 ENSG00000120071 chr17:46067582-46067582;C/T missense_variant False KANSL1@p.G540V 1 0.188679245 ENSG00000120071 chr17:46067582-46067582;C/A missense_variant False KANSL1@p.L210F 1 0.035714286 ENSG00000120071 chr17:46171516-46171516;G/A missense_variant False KANSL1@p.N235Hfs*11 1 0.133333333 ENSG00000120071 chr17:46171437-46171441;GAATT/- frameshift_variant False KAT2B@p.M451I 1 0.37037037 ENSG00000114166 chr3:20122744-20122744;G/A missense_variant False KAT2B@p.P86A 1 0.142857143 ENSG00000114166 chr3:20040733-20040733;C/G missense_variant False KAT5@p.E435D 1 0.255319149 ENSG00000172977 chr11:65718729-65718729;G/C missense_variant False KAT8@p.R98W 1 0.225352113 ENSG00000103510 chr16:31120344-31120344;C/T missense_variant False KATNA1@p.E94Q 1 0.241935484 ENSG00000186625 chr6:149632799-149632799;C/G missense_variant False KATNA1@p.E94D 1 0.3 ENSG00000186625 chr6:149632797-149632797;C/G missense_variant False KATNA1@p.E58K 1 0.06741573 ENSG00000186625 chr6:149632907-149632907;C/T missense_variant False KATNA1@p.E295Q 1 0.0859375 ENSG00000186625 chr6:149601599-149601599;C/G missense_variant False KATNA1@p.D79H 1 0.388888889 ENSG00000186625 chr6:149632844-149632844;C/G missense_variant False KAT8@p.V176M 1 0.107142857 ENSG00000103510 chr16:31127198-31127198;G/A missense_variant False KAT8@p.R140H 1 0.389937107 ENSG00000103510 chr16:31120471-31120471;G/A missense_variant False KAT7@p.K464N 1 0.153846154 ENSG00000136504 chr17:49823207-49823207;G/C missense_variant False KAT8@p.R140C 1 0.388888889 ENSG00000103510 chr16:31120470-31120470;C/T missense_variant False KAT8@p.H92P 1 0.119565217 ENSG00000103510 chr16:31120249-31120249;A/C missense_variant False KAT8@p.E102K 1 0.5 ENSG00000103510 chr16:31120356-31120356;G/A missense_variant False KAT7@p.V438M 1 0.376237624 ENSG00000136504 chr17:49821716-49821716;G/A missense_variant False KAT7@p.R76T 1 0.221238938 ENSG00000136504 chr17:49796813-49796813;G/C missense_variant False KAT7@p.R75I 1 0.150837989 ENSG00000136504 chr17:49796810-49796810;G/T missense_variant False KATNA1@p.L258V 1 0.348837209 ENSG00000186625 chr6:149601710-149601710;G/C missense_variant False KATNA1@p.R317Q 1 0.373056995 ENSG00000186625 chr6:149598289-149598289;C/T missense_variant False KATNAL2@p.K122N 1 0.343283582 ENSG00000167216 chr18:47058268-47058268;G/T missense_variant False KATNAL2@p.L284I 1 0.375 ENSG00000167216 chr18:47069244-47069244;C/A missense_variant False KATNAL2@p.L524V 1 0.260869565 ENSG00000167216 chr18:47100958-47100958;C/G missense_variant False KATNAL2@p.R362K 1 0.34375 ENSG00000167216 chr18:47075353-47075353;G/A missense_variant False KATNB1@p.D368N 1 0.333333333 ENSG00000140854 chr16:57753444-57753444;G/A missense_variant False KATNB1@p.D91H 1 0.08988764 ENSG00000140854 chr16:57744493-57744493;G/C missense_variant False KATNB1@p.E572K 1 0.487179487 ENSG00000140854 chr16:57756062-57756062;G/A missense_variant False KATNB1@p.G40R 1 0.517241379 ENSG00000140854 chr16:57741764-57741764;G/A missense_variant False KATNBL1@p.Y70C 1 0.075 ENSG00000134152 chr15:34153019-34153019;T/C missense_variant False KATNIP@p.D620N 1 0.302083333 ENSG00000047578 chr16:27740155-27740155;G/A missense_variant False KATNIP@p.F999L 1 0.161290323 ENSG00000047578 chr16:27749957-27749957;C/G missense_variant False KATNIP@p.G1121A 1 0.523809524 ENSG00000047578 chr16:27751734-27751734;G/C missense_variant False KATNIP@p.G224C 1 0.107692308 ENSG00000047578 chr16:27677858-27677858;G/T missense_variant False KATNIP@p.I1124M 1 0.369369369 ENSG00000047578 chr16:27751744-27751744;C/G missense_variant False KATNIP@p.L1362F 1 0.276422764 ENSG00000047578 chr16:27769969-27769969;C/T missense_variant False KAT7@p.R344C 1 0.303030303 ENSG00000136504 chr17:49817886-49817886;C/T missense_variant False KAT7@p.K373Ffs*25 1 0.35443038 ENSG00000136504 chr17:49817966-49817967;-/TGTT frameshift_variant False KAT5@p.R149Q 1 0.222222222 ENSG00000172977 chr11:65713597-65713597;G/A missense_variant False KAT6A@p.H144D 1 0.142857143 ENSG00000083168 chr8:42048548-42048548;G/C missense_variant False KAT6A@p.Q725E 1 0.077922078 ENSG00000083168 chr8:41943803-41943803;G/C missense_variant False KAT6A@p.Q1543E 1 0.172413793 ENSG00000083168 chr8:41933593-41933593;G/C missense_variant False KAT6A@p.P1930S 1 0.677083333 ENSG00000083168 chr8:41932432-41932432;G/A missense_variant False KAT6A@p.L68Sfs*13 1 0.130434783 ENSG00000083168 chr8:42048777-42048777;T/- frameshift_variant False KAT6A@p.L1127V 1 0.164634146 ENSG00000083168 chr8:41934841-41934841;G/C missense_variant False KAT6A@p.H1475Y 1 0.23943662 ENSG00000083168 chr8:41933797-41933797;G/A missense_variant False KAT6A@p.E467K 1 0.354166667 ENSG00000083168 chr8:41974787-41974787;C/T missense_variant False KAT7@p.E439K 1 0.61038961 ENSG00000136504 chr17:49821719-49821719;G/A missense_variant False KAT6A@p.E1447K 1 0.579831933 ENSG00000083168 chr8:41933881-41933881;C/T missense_variant False KAT6A@p.E1405K 1 0.143678161 ENSG00000083168 chr8:41934007-41934007;C/T missense_variant False KAT6A@p.D664N 1 0.391304348 ENSG00000083168 chr8:41946597-41946597;C/T missense_variant False KAT6A@p.A1741S 1 0.303571429 ENSG00000083168 chr8:41932999-41932999;C/A missense_variant False KAT6A@p.A106V 1 0.122641509 ENSG00000083168 chr8:42048661-42048661;G/A missense_variant False KAT5@p.S155L 1 0.4 ENSG00000172977 chr11:65713615-65713615;C/T missense_variant False KAT6A@p.R1082G 1 0.420560748 ENSG00000083168 chr8:41937364-41937364;T/C missense_variant False KAT6A@p.S1622R 1 0.6875 ENSG00000083168 chr8:41933354-41933354;G/C missense_variant False KAT6A@p.S38L 1 0.50625 ENSG00000083168 chr8:42048865-42048865;G/A missense_variant False KAT6B@p.E1009K 1 0.075 ENSG00000156650 chr10:75021884-75021884;G/A missense_variant False KAT6B@p.E1294D 1 0.609375 ENSG00000156650 chr10:75028706-75028706;G/C missense_variant False KAT6B@p.E1373K 1 0.142857143 ENSG00000156650 chr10:75028941-75028941;G/A missense_variant False KAT6B@p.E1786K 1 0.054945055 ENSG00000156650 chr10:75030180-75030180;G/A missense_variant False KAT6B@p.F251V 1 0.171428571 ENSG00000156650 chr10:74969680-74969680;T/G missense_variant False KAT6B@p.H549D 1 0.318681319 ENSG00000156650 chr10:74975982-74975982;C/G missense_variant False KAT6B@p.K109T 1 0.436893204 ENSG00000156650 chr10:74843183-74843183;A/C missense_variant False KAT6B@p.Q136E 1 0.555555556 ENSG00000156650 chr10:74843263-74843263;C/G missense_variant False KAT6B@p.R594T 1 0.266666667 ENSG00000156650 chr10:74976118-74976118;G/C missense_variant False KAT6B@p.S1996N 1 0.493975904 ENSG00000156650 chr10:75030811-75030811;G/A missense_variant False KAT6B@p.Y818C 1 0.131782946 ENSG00000156650 chr10:74985159-74985159;A/G missense_variant False KAT7@p.D17H 1 0.040650407 ENSG00000136504 chr17:49791919-49791919;G/C missense_variant False KAT7@p.D430N 1 0.15625 ENSG00000136504 chr17:49821692-49821692;G/A missense_variant False KAT7@p.E304K 1 0.139344262 ENSG00000136504 chr17:49815860-49815860;G/A missense_variant False KALRN@p.T1149A 1 0.202898551 ENSG00000160145 chr3:124446784-124446784;A/G missense_variant False KALRN@p.S2518L 1 0.230769231 ENSG00000160145 chr3:124694479-124694479;C/T missense_variant False KALRN@p.S1508N 1 0.321428571 ENSG00000160145 chr3:124490826-124490826;G/A missense_variant False JMJD1C@p.H1214R 1 0.090909091 ENSG00000171988 chr10:63208028-63208028;T/C missense_variant False JMJD1C@p.S1193F 1 0.145945946 ENSG00000171988 chr10:63208091-63208091;G/A missense_variant False JMJD1C@p.P480S 1 0.243137255 ENSG00000171988 chr10:63214729-63214729;G/A missense_variant False JMJD1C@p.P433S 1 0.188679245 ENSG00000171988 chr10:63214870-63214870;G/A missense_variant False JMJD1C@p.P1695S 1 0.210526316 ENSG00000171988 chr10:63200669-63200669;G/A missense_variant False JMJD1C@p.P1230T 1 0.215384615 ENSG00000171988 chr10:63207981-63207981;G/T missense_variant False JMJD1C@p.I677L 1 0.163461538 ENSG00000171988 chr10:63214138-63214138;T/A missense_variant False JMJD1C@p.E2137Q 1 0.230769231 ENSG00000171988 chr10:63189329-63189329;C/G missense_variant False JHY@p.R281Kfs*35 1 0.375690608 ENSG00000109944 chr11:122904414-122904415;-/A frameshift_variant False JMJD1C@p.E2029K 1 0.184210526 ENSG00000171988 chr10:63191100-63191100;C/T missense_variant False JMJD1C@p.E1577Q 1 0.823529412 ENSG00000171988 chr10:63206940-63206940;C/G missense_variant False JMJD1C@p.D562N 1 0.153846154 ENSG00000171988 chr10:63214483-63214483;C/T missense_variant False JMJD1C@p.D2371N 1 0.238095238 ENSG00000171988 chr10:63177830-63177830;C/T missense_variant False JKAMP@p.S319L 1 0.4375 ENSG00000050130 chr14:59504050-59504050;C/T missense_variant False JHY@p.S14Y 1 0.237623762 ENSG00000109944 chr11:122885890-122885890;C/A missense_variant False JMJD1C@p.S1376L 1 0.125874126 ENSG00000171988 chr10:63207542-63207542;G/A missense_variant False JMJD1C@p.S1513L 1 0.343065693 ENSG00000171988 chr10:63207131-63207131;G/A missense_variant False JMJD1C@p.S1720F 1 0.428571429 ENSG00000171988 chr10:63200593-63200593;G/A missense_variant False JMJD1C@p.S1774C 1 0.131578947 ENSG00000171988 chr10:63198683-63198683;G/C missense_variant False JMJD1C@p.S625F 1 0.308823529 ENSG00000171988 chr10:63214293-63214293;G/A missense_variant False JMJD1C@p.W904C 1 0.230769231 ENSG00000171988 chr10:63209218-63209218;C/A missense_variant False JMJD4@p.D275N 1 0.302325581 ENSG00000081692 chr1:227733551-227733551;C/T missense_variant False JMJD4@p.E147K 1 0.369565217 ENSG00000081692 chr1:227734778-227734778;C/T missense_variant False JMJD4@p.E6K 1 0.5 ENSG00000081692 chr1:227735396-227735396;C/T missense_variant False JMJD4@p.S376L 1 0.242424242 ENSG00000081692 chr1:227732657-227732657;G/A missense_variant False JMJD6@p.E11Q 1 0.136363636 ENSG00000070495 chr17:76726445-76726445;C/G missense_variant False JMJD6@p.E251Q 1 0.111842105 ENSG00000070495 chr17:76723826-76723826;C/G missense_variant False JMJD7-PLA2G4B@p.D313H 1 0.19858156 ENSG00000168970 chr15:41840798-41840798;G/C missense_variant False JMJD7-PLA2G4B@p.E356Q 1 0.258064516 ENSG00000168970 chr15:41841076-41841076;G/C missense_variant False JMJD7-PLA2G4B@p.E397K 1 0.2 ENSG00000168970 chr15:41841824-41841824;G/A missense_variant False JMJD7-PLA2G4B@p.E767Q 1 0.4375 ENSG00000168970 chr15:41846208-41846208;G/C missense_variant False JMJD7-PLA2G4B@p.G545V 1 0.182539683 ENSG00000168970 chr15:41844532-41844532;G/T missense_variant False JHY@p.R37Q 1 0.273809524 ENSG00000109944 chr11:122885959-122885959;G/A missense_variant False JHY@p.Q356E 1 0.2 ENSG00000109944 chr11:122934507-122934507;C/G missense_variant False JMJD7-PLA2G4B@p.V527L 1 0.393617021 ENSG00000168970 chr15:41844477-41844477;G/T missense_variant False JARID2@p.L892F 1 0.125 ENSG00000008083 chr6:15507359-15507359;C/T missense_variant False JAZF1@p.E140K 1 0.171641791 ENSG00000153814 chr7:27840835-27840835;C/T missense_variant False JARID2@p.T154I 1 0.281818182 ENSG00000008083 chr6:15452143-15452143;C/T missense_variant False JARID2@p.S417L 1 0.246376812 ENSG00000008083 chr6:15496475-15496475;C/T missense_variant False JARID2@p.S1243L 1 0.443181818 ENSG00000008083 chr6:15520238-15520238;C/T missense_variant False JARID2@p.R999S 1 0.117117117 ENSG00000008083 chr6:15512252-15512252;G/C missense_variant False JARID2@p.R478K 1 0.571428571 ENSG00000008083 chr6:15496658-15496658;G/A missense_variant False JARID2@p.G1022W 1 0.179245283 ENSG00000008083 chr6:15512319-15512319;G/T missense_variant False JHY@p.Q275E 1 0.230769231 ENSG00000109944 chr11:122904403-122904403;C/G missense_variant False JARID2@p.D1121N 1 0.333333333 ENSG00000008083 chr6:15513333-15513333;G/A missense_variant False JAML@p.S37L 1 0.092307692 ENSG00000160593 chr11:118212495-118212495;G/A missense_variant False JAML@p.Q274K 1 0.388888889 ENSG00000160593 chr11:118200565-118200565;G/T missense_variant False JAM3@p.R268K 1 0.229166667 ENSG00000166086 chr11:134148637-134148637;G/A missense_variant False JAM3@p.R107W 1 0.265822785 ENSG00000166086 chr11:134144303-134144303;C/T missense_variant False JAM3@p.D72N 1 0.0875 ENSG00000166086 chr11:134140728-134140728;G/A missense_variant False JAZF1@p.E74K 1 0.24 ENSG00000153814 chr7:27895385-27895385;C/T missense_variant False JAZF1@p.F208L 1 0.35483871 ENSG00000153814 chr7:27832908-27832908;G/C missense_variant False JCAD@p.E1127Q 1 0.253521127 ENSG00000165757 chr10:30026769-30026769;C/G missense_variant False JCAD@p.E1190Q 1 0.172161172 ENSG00000165757 chr10:30026580-30026580;C/G missense_variant False JCAD@p.E1329D 1 0.191304348 ENSG00000165757 chr10:30026161-30026161;C/G missense_variant False JCAD@p.E549Q 1 0.402173913 ENSG00000165757 chr10:30028503-30028503;C/G missense_variant False JCAD@p.E81K 1 0.093333333 ENSG00000165757 chr10:30047572-30047572;C/T missense_variant False JCAD@p.R73C 1 0.483870968 ENSG00000165757 chr10:30047596-30047596;G/A missense_variant False JCAD@p.R77K 1 0.057142857 ENSG00000165757 chr10:30047583-30047583;C/T missense_variant False JCAD@p.S768F 1 0.338235294 ENSG00000165757 chr10:30027845-30027845;G/A missense_variant False JCHAIN@p.D25N 1 0.134146341 ENSG00000132465 chr4:70662207-70662207;C/T missense_variant False JCHAIN@p.P75S 1 0.2 ENSG00000132465 chr4:70657257-70657257;G/A missense_variant False JDP2@p.A38T 1 0.588235294 ENSG00000140044 chr14:75438032-75438032;G/A missense_variant False JDP2@p.L35R 1 0.272727273 ENSG00000140044 chr14:75438024-75438024;T/G missense_variant False JHY@p.A304V 1 0.135802469 ENSG00000109944 chr11:122924943-122924943;C/T missense_variant False JHY@p.G744V 1 0.211111111 ENSG00000109944 chr11:122959339-122959339;G/T missense_variant False JHY@p.H277Y 1 0.300884956 ENSG00000109944 chr11:122904409-122904409;C/T missense_variant False JMJD7-PLA2G4B@p.M717V 1 0.060606061 ENSG00000168970 chr15:41845736-41845736;A/G missense_variant False JMY@p.E281K 1 0.454545455 ENSG00000152409 chr5:79237491-79237491;G/A missense_variant False KALRN@p.P1486L 1 0.441176471 ENSG00000160145 chr3:124490760-124490760;C/T missense_variant False JUP@p.K279N 1 0.091370558 ENSG00000173801 chr17:41767451-41767451;C/G missense_variant False KALRN@p.D449Y 1 0.119205298 ENSG00000160145 chr3:124329927-124329927;G/T missense_variant False KALRN@p.D2862H 1 0.56302521 ENSG00000160145 chr3:124719093-124719093;G/C missense_variant False KALRN@p.D1984H 1 0.25 ENSG00000160145 chr3:124657538-124657538;G/C missense_variant False KALRN@p.A453G 1 0.496732026 ENSG00000160145 chr3:124329940-124329940;C/G missense_variant False KAAG1@p.E83K 1 0.257142857 ENSG00000146049 chr6:24357886-24357886;G/A missense_variant False JUP@p.K394N 1 0.5 ENSG00000173801 chr17:41763298-41763298;C/G missense_variant False JUP@p.E15K 1 0.230769231 ENSG00000173801 chr17:41771812-41771812;C/T missense_variant False JUN@p.I264M 1 0.066666667 ENSG00000177606 chr1:58782279-58782279;G/C missense_variant False JUP@p.D450N 1 0.085106383 ENSG00000173801 chr17:41763132-41763132;C/T missense_variant False JUND@p.S259W 1 0.15 ENSG00000130522 chr19:18280709-18280709;G/C missense_variant False JUND@p.E242K 1 0.325 ENSG00000130522 chr19:18280761-18280761;C/T missense_variant False JUNB@p.S85L 1 0.214285714 ENSG00000171223 chr19:12792025-12792025;C/T missense_variant False JUNB@p.R56C 1 0.375 ENSG00000171223 chr19:12791937-12791937;C/T missense_variant False JUNB@p.K327R 1 0.472727273 ENSG00000171223 chr19:12792751-12792751;A/G missense_variant False KALRN@p.D595N 1 0.060606061 ENSG00000160145 chr3:124384863-124384863;G/A missense_variant False KALRN@p.D786G 1 0.102040816 ENSG00000160145 chr3:124413486-124413486;A/G missense_variant False KALRN@p.D7Y 1 0.367346939 ENSG00000160145 chr3:124094856-124094856;G/T missense_variant False KALRN@p.E1173Q 1 0.20212766 ENSG00000160145 chr3:124446856-124446856;G/C missense_variant False KALRN@p.E1326Q 1 0.134328358 ENSG00000160145 chr3:124462584-124462584;G/C missense_variant False KALRN@p.E181Q 1 0.417721519 ENSG00000160145 chr3:124268833-124268833;G/C missense_variant False KALRN@p.E1907Q 1 0.866666667 ENSG00000160145 chr3:124650865-124650865;G/C missense_variant False KALRN@p.E221K 1 0.449275362 ENSG00000160145 chr3:124268953-124268953;G/A missense_variant False KALRN@p.E2274K 1 0.210526316 ENSG00000160145 chr3:124671779-124671779;G/A missense_variant False KALRN@p.E2609K 1 0.375 ENSG00000160145 chr3:124697718-124697718;G/A missense_variant False KALRN@p.E2960K 1 0.168831169 ENSG00000160145 chr3:124719387-124719387;G/A missense_variant False KALRN@p.E816Q 1 0.103448276 ENSG00000160145 chr3:124413575-124413575;G/C missense_variant False KALRN@p.F1544L 1 0.3125 ENSG00000160145 chr3:124491371-124491371;T/C missense_variant False KALRN@p.G1228A 1 0.13 ENSG00000160145 chr3:124455313-124455313;G/C missense_variant False KALRN@p.M2105I 1 0.434977578 ENSG00000160145 chr3:124661901-124661901;G/A missense_variant False KALRN@p.M416V 1 0.413043478 ENSG00000160145 chr3:124326139-124326139;A/G missense_variant False KALRN@p.N554S 1 0.459770115 ENSG00000160145 chr3:124347162-124347162;A/G missense_variant False JUNB@p.K141N 1 0.285714286 ENSG00000171223 chr19:12792194-12792194;A/C missense_variant False JTB@p.P62S 1 0.203389831 ENSG00000143543 chr1:153976713-153976713;G/A missense_variant False JMY@p.L773F 1 0.418803419 ENSG00000152409 chr5:79314509-79314509;C/T missense_variant False JPH2@p.A388T 1 0.272727273 ENSG00000149596 chr20:44159625-44159625;C/T missense_variant False JPH4@p.L346V 1 0.466666667 ENSG00000092051 chr14:23575800-23575800;G/C missense_variant False JPH3@p.S468C 1 0.333333333 ENSG00000154118 chr16:87689763-87689763;C/G missense_variant False JPH3@p.R145Q 1 0.52688172 ENSG00000154118 chr16:87644309-87644309;G/A missense_variant False JPH2@p.R655Q 1 0.269565217 ENSG00000149596 chr20:44115711-44115711;C/T missense_variant False JPH2@p.E37K 1 0.539325843 ENSG00000149596 chr20:44186597-44186597;C/T missense_variant False JPH2@p.E289K 1 0.12 ENSG00000149596 chr20:44159922-44159922;C/T missense_variant False JPH1@p.T161S 1 0.111111111 ENSG00000104369 chr8:74315518-74315518;G/C missense_variant False JTB@p.E37Q 1 0.052631579 ENSG00000143543 chr1:153976988-153976988;C/G missense_variant False JPH1@p.T153M 1 0.110132159 ENSG00000104369 chr8:74315542-74315542;G/A missense_variant False JPH1@p.Q145H 1 0.269230769 ENSG00000104369 chr8:74315565-74315565;C/G missense_variant False JPH1@p.G40D 1 0.112903226 ENSG00000104369 chr8:74321169-74321169;C/T missense_variant False JOSD2@p.E17K 1 0.295238095 ENSG00000161677 chr19:50510383-50510383;C/T missense_variant False JOSD2@p.E169K 1 0.113207547 ENSG00000161677 chr19:50506235-50506235;C/T missense_variant False JMY@p.R872Q 1 0.233333333 ENSG00000152409 chr5:79314807-79314807;G/A missense_variant False JPH4@p.L572V 1 0.078431373 ENSG00000092051 chr14:23571017-23571017;G/C missense_variant False JPH4@p.R299G 1 0.545454545 ENSG00000092051 chr14:23575941-23575941;G/C missense_variant False JPT2@p.E141D 1 0.43902439 ENSG00000206053 chr16:1698848-1698848;G/C missense_variant False JPT2@p.K176N 1 0.108108108 ENSG00000206053 chr16:1698953-1698953;G/C missense_variant False JRK@p.G444E 1 0.285714286 ENSG00000234616 chr8:142664728-142664728;C/T missense_variant False JRK@p.S397F 1 0.227272727 ENSG00000234616 chr8:142664869-142664869;G/A missense_variant False JRK@p.V105I 1 0.28 ENSG00000234616 chr8:142665746-142665746;C/T missense_variant False JRKL@p.A92P 1 0.736842105 ENSG00000183340 chr11:96390923-96390923;G/C missense_variant False JRKL@p.D17H 1 0.868852459 ENSG00000183340 chr11:96390698-96390698;G/C missense_variant False JRKL@p.D458N 1 0.442622951 ENSG00000183340 chr11:96392021-96392021;G/A missense_variant False JRKL@p.F108L 1 0.358490566 ENSG00000183340 chr11:96390973-96390973;C/A missense_variant False JRKL@p.L64V 1 0.144 ENSG00000183340 chr11:96390839-96390839;C/G missense_variant False JRKL@p.N337T 1 0.086206897 ENSG00000183340 chr11:96391659-96391659;A/C missense_variant False JSRP1@p.E248Q 1 0.24 ENSG00000167476 chr19:2252583-2252583;C/G missense_variant False JSRP1@p.E81Q 1 0.26848249 ENSG00000167476 chr19:2254208-2254208;C/G missense_variant False JSRP1@p.S44C 1 0.1875 ENSG00000167476 chr19:2254461-2254461;G/C missense_variant False JTB@p.A5S 1 0.449275362 ENSG00000143543 chr1:153977240-153977240;C/A missense_variant False KDM3B@p.R1136K 1 0.097222222 ENSG00000120733 chr5:138417582-138417582;G/A missense_variant False KDM3B@p.R1553K 1 0.420382166 ENSG00000120733 chr5:138427991-138427991;G/A missense_variant False ITGB3@p.R589C 1 0.076190476 ENSG00000259207 chr17:47299382-47299382;C/T missense_variant False KIRREL1@p.D530H 1 0.060606061 ENSG00000183853 chr1:158093631-158093631;G/C missense_variant False KIRREL1@p.S680R 1 0.137254902 ENSG00000183853 chr1:158094886-158094886;C/A missense_variant False KIRREL1@p.R593Q 1 0.148148148 ENSG00000183853 chr1:158094371-158094371;G/A missense_variant False KIRREL1@p.R440H 1 0.230769231 ENSG00000183853 chr1:158091404-158091404;G/A missense_variant False KIRREL1@p.R110W 1 0.234375 ENSG00000183853 chr1:158078116-158078116;C/T missense_variant False KIRREL1@p.R108H 1 0.28125 ENSG00000183853 chr1:158078111-158078111;G/A missense_variant False KIRREL1@p.E541Q 1 0.26744186 ENSG00000183853 chr1:158093664-158093664;G/C missense_variant False KIRREL1@p.A78V 1 0.125 ENSG00000183853 chr1:158078021-158078021;C/T missense_variant False KIRREL2@p.G139A 1 0.23125 ENSG00000126259 chr19:35858758-35858758;G/C missense_variant False KIR3DL3@p.V178I 1 0.091503268 ENSG00000242019 chr19:54727787-54727787;G/A missense_variant False KIR3DL3@p.R94T 1 0.2125 ENSG00000242019 chr19:54726263-54726263;G/C missense_variant False KIR3DL2@p.V303M 1 0.237354086 ENSG00000240403 chr19:54855870-54855870;G/A missense_variant False KIR3DL2@p.R437I 1 0.170542636 ENSG00000240403 chr19:54866673-54866673;G/T missense_variant False KIR3DL2@p.P232L 1 0.248 ENSG00000240403 chr19:54855658-54855658;C/T missense_variant False KIR3DL2@p.L213Q 1 0.297297297 ENSG00000240403 chr19:54854029-54854029;T/A missense_variant False KIRREL2@p.E102K 1 0.161538462 ENSG00000126259 chr19:35858500-35858500;G/A missense_variant False KIRREL2@p.H89N 1 0.490909091 ENSG00000126259 chr19:35858461-35858461;C/A missense_variant False KLHDC3@p.F153C 1 0.627118644 ENSG00000124702 chr6:43018155-43018155;T/G missense_variant False KIT@p.V668A 1 0.402597403 ENSG00000157404 chr4:54729347-54729347;T/C missense_variant True KIZ@p.S336P 1 0.151515152 ENSG00000088970 chr20:21162471-21162471;T/C missense_variant False KIZ@p.H250D 1 0.123376623 ENSG00000088970 chr20:21162213-21162213;C/G missense_variant False KITLG@p.S96I 1 0.294117647 ENSG00000049130 chr12:88518773-88518773;C/A missense_variant False KITLG@p.R176T 1 0.285714286 ENSG00000049130 chr12:88515611-88515611;C/G missense_variant False KITLG@p.G233A 1 0.115384615 ENSG00000049130 chr12:88507044-88507044;C/G missense_variant False KITLG@p.E259Q 1 0.112676056 ENSG00000049130 chr12:88506318-88506318;C/G missense_variant False KIT@p.R19C 1 0.361111111 ENSG00000157404 chr4:54658069-54658069;C/T missense_variant True KIRREL2@p.R147W 1 0.384615385 ENSG00000126259 chr19:35858781-35858781;C/T missense_variant False KIT@p.L14R 1 0.421875 ENSG00000157404 chr4:54658055-54658055;T/G missense_variant True KIT@p.E720D 1 0.163265306 ENSG00000157404 chr4:54731346-54731346;G/T missense_variant True KIT@p.D479H 1 0.243243243 ENSG00000157404 chr4:54725945-54725945;G/C missense_variant True KIT@p.A299V 1 0.13740458 ENSG00000157404 chr4:54703863-54703863;C/T missense_variant True KIRREL3@p.V388M 1 0.207317073 ENSG00000149571 chr11:126445069-126445069;C/T missense_variant False KIRREL3@p.D330H 1 0.285714286 ENSG00000149571 chr11:126449018-126449018;C/G missense_variant False KIR3DL2@p.G137A 1 0.562724014 ENSG00000240403 chr19:54853801-54853801;G/C missense_variant False KIR3DL1@p.R41P 1 0.23030303 ENSG00000167633 chr19:54818366-54818366;G/C missense_variant False KIR3DL1@p.P393R 1 0.158597663 ENSG00000167633 chr19:54830118-54830118;C/G missense_variant False KIFC2@p.P541S 1 0.25 ENSG00000167702 chr8:144472374-144472374;C/T missense_variant False KIFC3@p.R74Q 1 0.147540984 ENSG00000140859 chr16:57795093-57795093;C/T missense_variant False KIFC3@p.E558K 1 0.259259259 ENSG00000140859 chr16:57762216-57762216;C/T missense_variant False KIFC3@p.D70Y 1 0.2 ENSG00000140859 chr16:57795106-57795106;C/A missense_variant False KIFC2@p.S612F 1 0.15625 ENSG00000167702 chr8:144472680-144472680;C/T missense_variant False KIFC2@p.R808W 1 0.277777778 ENSG00000167702 chr8:144473355-144473355;C/T missense_variant False KIFC2@p.P613A 1 0.272727273 ENSG00000167702 chr8:144472682-144472682;C/G missense_variant False KIFC2@p.E244K 1 0.434782609 ENSG00000167702 chr8:144467907-144467907;G/A missense_variant False KIR3DL1@p.P103S 1 0.423809524 ENSG00000167633 chr19:54818551-54818551;C/T missense_variant False KIFC2@p.E214Q 1 0.11965812 ENSG00000167702 chr8:144467738-144467738;G/C missense_variant False KIFC1@p.R54T 1 0.266666667 ENSG00000237649 chr6:33398298-33398298;G/C missense_variant False KIFC1@p.Q170R 1 0.061538462 ENSG00000237649 chr6:33403882-33403882;A/G missense_variant False KIFC1@p.G362A 1 0.123076923 ENSG00000237649 chr6:33405180-33405180;G/C missense_variant False KIFC1@p.E649K 1 0.464285714 ENSG00000237649 chr6:33406843-33406843;G/A missense_variant False KIFC1@p.E250K 1 0.5 ENSG00000237649 chr6:33404121-33404121;G/A missense_variant False KIFC3@p.S800L 1 0.133333333 ENSG00000140859 chr16:57759805-57759805;G/A missense_variant False KIN@p.Q29H 1 0.379166667 ENSG00000151657 chr10:7787847-7787847;C/G missense_variant False KIN@p.R124T 1 0.1875 ENSG00000151657 chr10:7780061-7780061;C/G missense_variant False KIN@p.R380K 1 0.151162791 ENSG00000151657 chr10:7756123-7756123;C/T missense_variant False KIN@p.S215F 1 0.165289256 ENSG00000151657 chr10:7774855-7774855;G/A missense_variant False KIR2DL3@p.E23K 1 0.100890208 ENSG00000243772 chr19:54739539-54739539;G/A missense_variant False KIR2DL3@p.H266L 1 0.347593583 ENSG00000243772 chr19:54751730-54751730;A/T missense_variant False KIR2DL3@p.P215Q 1 0.212410501 ENSG00000243772 chr19:54744068-54744068;C/A missense_variant False KIR2DL3@p.S107F 1 0.337730871 ENSG00000243772 chr19:54742229-54742229;C/T missense_variant False KIR2DL3@p.T180K 1 0.068711656 ENSG00000243772 chr19:54743963-54743963;C/A missense_variant False KIR2DL4@p.A209V 1 0.258064516 ENSG00000189013 chr19:54806098-54806098;C/T missense_variant False KIR2DL4@p.A340T 1 0.085616438 ENSG00000189013 chr19:54813878-54813878;G/A missense_variant False KIR2DL4@p.A78V 1 0.431578947 ENSG00000189013 chr19:54804832-54804832;C/T missense_variant False KIR2DL4@p.Q403E 1 0.046728972 ENSG00000189013 chr19:54814067-54814067;C/G missense_variant False KIR2DL4@p.Y243C 1 0.10880829 ENSG00000189013 chr19:54806200-54806200;A/G missense_variant False KIR3DL1@p.E258K 1 0.356666667 ENSG00000167633 chr19:54821681-54821681;G/A missense_variant False KIR3DL1@p.G288E 1 0.701449275 ENSG00000167633 chr19:54821772-54821772;G/A missense_variant False KIZ@p.S506L 1 0.166666667 ENSG00000088970 chr20:21214605-21214605;C/T missense_variant False KL@p.A652T 1 0.166666667 ENSG00000133116 chr13:33061033-33061033;G/A missense_variant False KL@p.F789L 1 0.166666667 ENSG00000133116 chr13:33061446-33061446;C/A missense_variant False KLF5@p.K209Nfs*24 1 0.189473684 ENSG00000102554 chr13:73062224-73062224;A/- frameshift_variant False KLF5@p.Q99E 1 0.338028169 ENSG00000102554 chr13:73061894-73061894;C/G missense_variant False KLF5@p.Q172H 1 0.511904762 ENSG00000102554 chr13:73062115-73062115;G/T missense_variant False KLF5@p.P356R 1 0.169642857 ENSG00000102554 chr13:73062666-73062666;C/G missense_variant False KLF5@p.P302Q 1 0.503759398 ENSG00000102554 chr13:73062504-73062504;C/A missense_variant False KLF5@p.N137_V138insH 1 0.374100719 ENSG00000102554 chr13:73062010-73062011;-/CAT inframe_insertion False KLF5@p.K209Qfs*45 1 0.327586207 ENSG00000102554 chr13:73062222-73062223;-/C frameshift_variant False KLF5@p.H227Pfs*27 1 0.20952381 ENSG00000102554 chr13:73062273-73062274;-/G frameshift_variant False KLF4@p.K409N 1 0.179836512 ENSG00000136826 chr9:107487065-107487065;C/G missense_variant True KLF5@p.E93D 1 0.1375 ENSG00000102554 chr13:73061878-73061878;G/C missense_variant False KLF5@p.E419K 1 0.111111111 ENSG00000102554 chr13:73075767-73075767;G/A missense_variant False KLF5@p.E128K 1 0.366197183 ENSG00000102554 chr13:73061981-73061981;G/A missense_variant False KLF5@p.D418G 1 0.352112676 ENSG00000102554 chr13:73075765-73075765;A/G missense_variant False KLF5@p.A316Rfs*6 1 0.136363636 ENSG00000102554 chr13:73062542-73062545;CAAG/- frameshift_variant False KLF4@p.T69S 1 0.086956522 ENSG00000136826 chr9:107488188-107488188;G/C missense_variant True KLF6@p.A70V 1 0.424242424 ENSG00000067082 chr10:3782108-3782108;G/A missense_variant False KLF6@p.C96R 1 0.133603239 ENSG00000067082 chr10:3782031-3782031;A/G missense_variant False KLF6@p.E87Q 1 0.481308411 ENSG00000067082 chr10:3782058-3782058;C/G missense_variant False KLF6@p.P121S 1 0.326241135 ENSG00000067082 chr10:3781956-3781956;G/A missense_variant False KLF6@p.S270C 1 0.487804878 ENSG00000067082 chr10:3779582-3779582;G/C missense_variant False KLF7@p.E254K 1 0.290322581 ENSG00000118263 chr2:207088555-207088555;C/T missense_variant False KLF8@p.S31F 1 0.857142857 ENSG00000102349 chrX:56265190-56265190;C/T missense_variant False KLHDC10@p.C187Y 1 0.121212121 ENSG00000128607 chr7:130120833-130120833;G/A missense_variant False KLHDC1@p.F84I 1 0.108433735 ENSG00000197776 chr14:49709791-49709791;T/A missense_variant False KLHDC1@p.Q401E 1 0.142857143 ENSG00000197776 chr14:49751752-49751752;C/G missense_variant False KLHDC2@p.E66K 1 0.09375 ENSG00000165516 chr14:49771636-49771636;G/A missense_variant False KLHDC2@p.R189K 1 0.520833333 ENSG00000165516 chr14:49778427-49778427;G/A missense_variant False KLHDC2@p.R347T 1 0.430232558 ENSG00000165516 chr14:49782453-49782453;G/C missense_variant False KLHDC2@p.R77K 1 0.243589744 ENSG00000165516 chr14:49771670-49771670;G/A missense_variant False KLHDC2@p.W321G 1 0.352272727 ENSG00000165516 chr14:49782374-49782374;T/G missense_variant False KLHDC3@p.D359Y 1 0.139534884 ENSG00000124702 chr6:43019359-43019359;G/T missense_variant False KLHDC3@p.E224K 1 0.215827338 ENSG00000124702 chr6:43018493-43018493;G/A missense_variant False KLF4@p.R454C 1 0.386363636 ENSG00000136826 chr9:107485831-107485831;G/A missense_variant True KLF4@p.D73N 1 0.189189189 ENSG00000136826 chr9:107488177-107488177;C/T missense_variant True KL@p.K424N 1 0.531914894 ENSG00000133116 chr13:33054219-33054219;G/C missense_variant False KLB@p.F967Lfs*4 1 0.314285714 ENSG00000134962 chr4:39448444-39448445;-/G frameshift_variant False KLC3@p.K462N 1 0.084745763 ENSG00000104892 chr19:45350960-45350960;G/C missense_variant False KLC3@p.E350K 1 0.23943662 ENSG00000104892 chr19:45349507-45349507;G/A missense_variant False KLC2@p.R270W 1 0.444444444 ENSG00000174996 chr11:66263715-66263715;C/T missense_variant False KLB@p.S801W 1 0.171717172 ENSG00000134962 chr4:39447128-39447128;C/G missense_variant False KLB@p.R364T 1 0.191780822 ENSG00000134962 chr4:39434475-39434475;G/C missense_variant False KLB@p.K1040N 1 0.107843137 ENSG00000134962 chr4:39448671-39448671;G/C missense_variant False KLB@p.D56E 1 0.248175182 ENSG00000134962 chr4:39407117-39407117;T/A missense_variant False KLF3@p.P289S 1 0.241935484 ENSG00000109787 chr4:38697090-38697090;C/T missense_variant False KLB@p.D161Y 1 0.115183246 ENSG00000134962 chr4:39407430-39407430;G/T missense_variant False KL@p.R671Q 1 0.52173913 ENSG00000133116 chr13:33061091-33061091;G/A missense_variant False KL@p.R175G 1 0.433333333 ENSG00000133116 chr13:33016963-33016963;C/G missense_variant False KL@p.R1009K 1 0.268292683 ENSG00000133116 chr13:33064173-33064173;G/A missense_variant False KL@p.Q317E 1 0.331632653 ENSG00000133116 chr13:33053896-33053896;C/G missense_variant False KL@p.M384I 1 0.052238806 ENSG00000133116 chr13:33054099-33054099;G/A missense_variant False KLC3@p.R358P 1 0.16 ENSG00000104892 chr19:45349532-45349532;G/C missense_variant False KLC4@p.S616C 1 0.188679245 ENSG00000137171 chr6:43074659-43074659;C/G missense_variant False KLF10@p.E138K 1 0.690140845 ENSG00000155090 chr8:102651920-102651920;C/T missense_variant False KLF10@p.M46T 1 0.267045455 ENSG00000155090 chr8:102652297-102652297;A/G missense_variant False KLF10@p.S184Y 1 0.417808219 ENSG00000155090 chr8:102651781-102651781;G/T missense_variant False KLF10@p.S47L 1 0.128318584 ENSG00000155090 chr8:102652294-102652294;G/A missense_variant False KLF11@p.L149V 1 0.320512821 ENSG00000172059 chr2:10047782-10047782;C/G missense_variant False KLF11@p.P167S 1 0.227272727 ENSG00000172059 chr2:10047836-10047836;C/T missense_variant False KLF11@p.R70I 1 0.180327869 ENSG00000172059 chr2:10046316-10046316;G/T missense_variant False KLF13@p.G179R 1 0.454545455 ENSG00000169926 chr15:31327747-31327747;G/C missense_variant False KLF17@p.F324L 1 0.203703704 ENSG00000171872 chr1:44130558-44130558;C/A missense_variant False KLF17@p.M222V 1 0.175438596 ENSG00000171872 chr1:44129935-44129935;A/G missense_variant False KLF17@p.R326H 1 0.166666667 ENSG00000171872 chr1:44130563-44130563;G/A missense_variant False KLF17@p.S42Y 1 0.166666667 ENSG00000171872 chr1:44129396-44129396;C/A missense_variant False KLF1@p.P19S 1 0.382352941 ENSG00000105610 chr19:12887086-12887086;G/A missense_variant False KLF3@p.E174D 1 0.561403509 ENSG00000109787 chr4:38689049-38689049;A/C missense_variant False KLF3@p.P225L 1 0.431693989 ENSG00000109787 chr4:38689858-38689858;C/T missense_variant False KIFC1@p.E249Q 1 0.226666667 ENSG00000237649 chr6:33404118-33404118;G/C missense_variant False KIFC1@p.A98G 1 0.45045045 ENSG00000237649 chr6:33403356-33403356;C/G missense_variant False KIFC1@p.A280Qfs*4 1 0.13253012 ENSG00000237649 chr6:33404932-33404932;G/- frameshift_variant False KIF27@p.P1304S 1 0.196969697 ENSG00000165115 chr9:83837297-83837297;G/A missense_variant False KIF2B@p.D349H 1 0.514563107 ENSG00000141200 chr17:53824078-53824078;G/C missense_variant False KIF2A@p.Q598H 1 0.166666667 ENSG00000068796 chr5:62373834-62373834;A/C missense_variant False KIF2A@p.E664K 1 0.294117647 ENSG00000068796 chr5:62381208-62381208;G/A missense_variant False KIF2A@p.C159G 1 0.5 ENSG00000068796 chr5:62353292-62353292;T/G missense_variant False KIF27@p.S758C 1 0.227272727 ENSG00000165115 chr9:83883985-83883985;G/C missense_variant False KIF27@p.R1336G 1 0.4 ENSG00000165115 chr9:83837201-83837201;G/C missense_variant False KIF27@p.M848T 1 0.292307692 ENSG00000165115 chr9:83880397-83880397;A/G missense_variant False KIF26B@p.R677H 1 0.220588235 ENSG00000162849 chr1:245611908-245611908;G/A missense_variant False KIF27@p.K1214N 1 0.337837838 ENSG00000165115 chr9:83842316-83842316;C/G missense_variant False KIF27@p.K1001N 1 0.184466019 ENSG00000165115 chr9:83859303-83859303;C/G missense_variant False KIF27@p.H1351Y 1 0.371428571 ENSG00000165115 chr9:83837156-83837156;G/A missense_variant False KIF27@p.G910A 1 0.426666667 ENSG00000165115 chr9:83870547-83870547;C/G missense_variant False KIF27@p.D1209Y 1 0.121212121 ENSG00000165115 chr9:83842333-83842333;C/A missense_variant False KIF26B@p.T1784M 1 0.357142857 ENSG00000162849 chr1:245688334-245688334;C/T missense_variant False KIF2B@p.D650Y 1 0.435483871 ENSG00000141200 chr17:53824981-53824981;G/T missense_variant False KIF2B@p.H559L 1 0.137096774 ENSG00000141200 chr17:53824709-53824709;A/T missense_variant False KIF2B@p.R171Q 1 0.288753799 ENSG00000141200 chr17:53823545-53823545;G/A missense_variant False KIF2C@p.A16T 1 0.142168675 ENSG00000142945 chr1:44739978-44739978;G/A missense_variant False KIF2C@p.E512Q 1 0.162790698 ENSG00000142945 chr1:44760446-44760446;G/C missense_variant False KIF3A@p.S254L 1 0.081081081 ENSG00000131437 chr5:132716438-132716438;G/A missense_variant False KIF3A@p.S87F 1 0.171875 ENSG00000131437 chr5:132734225-132734225;G/A missense_variant False KIF3A@p.V15L 1 0.347826087 ENSG00000131437 chr5:132734442-132734442;C/A missense_variant False KIF3B@p.F358L 1 0.173913043 ENSG00000101350 chr20:32310851-32310851;C/A missense_variant False KIF3B@p.G90E 1 0.292857143 ENSG00000101350 chr20:32310046-32310046;G/A missense_variant False KIF3B@p.L639F 1 0.185840708 ENSG00000101350 chr20:32327610-32327610;G/C missense_variant False KIF3B@p.Q97E 1 0.112149533 ENSG00000101350 chr20:32310066-32310066;C/G missense_variant False KIF3B@p.R364W 1 0.19047619 ENSG00000101350 chr20:32310867-32310867;C/T missense_variant False KIF3B@p.R507T 1 0.5 ENSG00000101350 chr20:32316540-32316540;G/C missense_variant False KIF3B@p.R628Q 1 0.168141593 ENSG00000101350 chr20:32327576-32327576;G/A missense_variant False KIF3B@p.V745L 1 0.444444444 ENSG00000101350 chr20:32331308-32331308;G/C missense_variant False KIF3B@p.Y292_L301del 1 0.159090909 ENSG00000101350 chr20:32310651-32310680;TATCGGGACTCAAAGCTTACCAGGCTCCTC/- inframe_deletion False KIF26B@p.S1919R 1 0.09375 ENSG00000162849 chr1:245688740-245688740;C/G missense_variant False KIF26B@p.R463P 1 0.294117647 ENSG00000162849 chr1:245602614-245602614;G/C missense_variant False KIF3C@p.E125K 1 0.132867133 ENSG00000084731 chr2:25981545-25981545;C/T missense_variant False KIF23@p.S826F 1 0.401273885 ENSG00000137807 chr15:69444887-69444887;C/T missense_variant False KIF24@p.R634T 1 0.256410256 ENSG00000186638 chr9:34257706-34257706;C/G missense_variant False KIF24@p.R487P 1 0.263157895 ENSG00000186638 chr9:34263156-34263156;C/G missense_variant False KIF24@p.R229Q 1 0.119565217 ENSG00000186638 chr9:34306379-34306379;C/T missense_variant False KIF24@p.E1043Q 1 0.508474576 ENSG00000186638 chr9:34256480-34256480;C/G missense_variant False KIF24@p.D581N 1 0.409836066 ENSG00000186638 chr9:34257866-34257866;C/T missense_variant False KIF23@p.Y68C 1 0.286764706 ENSG00000137807 chr15:69417504-69417504;A/G missense_variant False KIF23@p.R440T 1 0.246575342 ENSG00000137807 chr15:69436184-69436184;G/C missense_variant False KIF26B@p.Q897H 1 0.170212766 ENSG00000162849 chr1:245685674-245685674;G/T missense_variant False KIF23@p.M427I 1 0.253731343 ENSG00000137807 chr15:69436146-69436146;G/A missense_variant False KIF23@p.K662E 1 0.583333333 ENSG00000137807 chr15:69440404-69440404;A/G missense_variant False KIF23@p.E491Q 1 0.311827957 ENSG00000137807 chr15:69436638-69436638;G/C missense_variant False KIF23@p.E278Q 1 0.170212766 ENSG00000137807 chr15:69426167-69426167;G/C missense_variant False KIF23@p.D817N 1 0.160493827 ENSG00000137807 chr15:69444859-69444859;G/A missense_variant False KIF22@p.S332F 1 0.136986301 ENSG00000079616 chr16:29799632-29799632;C/T missense_variant False KIF24@p.S196L 1 0.185185185 ENSG00000186638 chr9:34310760-34310760;G/A missense_variant False KIF25@p.G65R 1 0.232142857 ENSG00000125337 chr6:168033907-168033907;G/A missense_variant False KIF26A@p.A1226G 1 0.434782609 ENSG00000066735 chr14:104176465-104176465;C/G missense_variant False KIF26A@p.A872T 1 0.37037037 ENSG00000066735 chr14:104175402-104175402;G/A missense_variant False KIF26A@p.P556S 1 0.346666667 ENSG00000066735 chr14:104173222-104173222;C/T missense_variant False KIF26A@p.P652H 1 0.684210526 ENSG00000066735 chr14:104173793-104173793;C/A missense_variant False KIF26A@p.P652S 1 0.65 ENSG00000066735 chr14:104173792-104173792;C/T missense_variant False KIF26A@p.R1227G 1 0.8 ENSG00000066735 chr14:104176467-104176467;C/G missense_variant False KIF26A@p.R1227H 1 0.435897436 ENSG00000066735 chr14:104176468-104176468;G/A missense_variant False KIF26A@p.S688T 1 0.375 ENSG00000066735 chr14:104174179-104174179;T/A missense_variant False KIF26B@p.A1398S 1 0.233333333 ENSG00000162849 chr1:245687175-245687175;G/T missense_variant False KIF26B@p.A361T 1 0.227848101 ENSG00000162849 chr1:245419660-245419660;G/A missense_variant False KIF26B@p.E1549Q 1 0.428571429 ENSG00000162849 chr1:245687628-245687628;G/C missense_variant False KIF26B@p.E631K 1 0.307692308 ENSG00000162849 chr1:245609505-245609505;G/A missense_variant False KIF26B@p.I457M 1 0.5 ENSG00000162849 chr1:245602597-245602597;C/G missense_variant False KIF26B@p.K697N 1 0.105263158 ENSG00000162849 chr1:245611969-245611969;A/C missense_variant False KIF26B@p.Q392H 1 0.612121212 ENSG00000162849 chr1:245540776-245540776;G/T missense_variant False KIF3C@p.D653G 1 0.107142857 ENSG00000084731 chr2:25951837-25951837;T/C missense_variant False KIF3C@p.E601D 1 0.285714286 ENSG00000084731 chr2:25954353-25954353;C/G missense_variant False KIFBP@p.Y554S 1 0.426829268 ENSG00000198954 chr10:69016211-69016211;A/C missense_variant False KIF6@p.S542R 1 0.513011152 ENSG00000164627 chr6:39540022-39540022;A/T missense_variant False KIF9@p.T551P 1 0.220338983 ENSG00000088727 chr3:47243109-47243109;T/G missense_variant False KIF9@p.E772Q 1 0.253333333 ENSG00000088727 chr3:47235521-47235521;C/G missense_variant False KIF9@p.E475K 1 0.9 ENSG00000088727 chr3:47244882-47244882;C/T missense_variant False KIF7@p.R1199C 1 0.361904762 ENSG00000166813 chr15:89629045-89629045;G/A missense_variant False KIF7@p.Q1118H 1 0.1875 ENSG00000166813 chr15:89629538-89629538;C/G missense_variant False KIF7@p.E611K 1 0.075630252 ENSG00000166813 chr15:89645984-89645984;C/T missense_variant False KIF6@p.S254L 1 0.128205128 ENSG00000164627 chr6:39596139-39596139;G/A missense_variant False KIF6@p.A376S 1 0.079545455 ENSG00000164627 chr6:39578111-39578111;C/A missense_variant False KIF6@p.Q764H 1 0.434210526 ENSG00000164627 chr6:39345729-39345729;C/G missense_variant False KIF6@p.Q642Tfs*10 1 0.263736264 ENSG00000164627 chr6:39362457-39362458;-/G frameshift_variant False KIF6@p.L371M 1 0.155339806 ENSG00000164627 chr6:39578126-39578126;G/T missense_variant False KIF6@p.K647N 1 0.246376812 ENSG00000164627 chr6:39362439-39362439;C/G missense_variant False KIF6@p.E459Q 1 0.206896552 ENSG00000164627 chr6:39544606-39544606;C/G missense_variant False KIF6@p.E396Q 1 0.25 ENSG00000164627 chr6:39545684-39545684;C/G missense_variant False KIFAP3@p.A583S 1 0.4375 ENSG00000075945 chr1:169982023-169982023;C/A missense_variant False KIFAP3@p.D339N 1 0.244897959 ENSG00000075945 chr1:170024423-170024423;C/T missense_variant False KIFAP3@p.D537H 1 0.401960784 ENSG00000075945 chr1:169982765-169982765;C/G missense_variant False KIFAP3@p.D719H 1 0.294117647 ENSG00000075945 chr1:169961064-169961064;C/G missense_variant False KIFAP3@p.E168K 1 0.089552239 ENSG00000075945 chr1:170038305-170038305;C/T missense_variant False KIFAP3@p.E24Q 1 0.295454545 ENSG00000075945 chr1:170055399-170055399;C/G missense_variant False KIFAP3@p.E688Q 1 0.411428571 ENSG00000075945 chr1:169961157-169961157;C/G missense_variant False KIFAP3@p.F721L 1 0.134020619 ENSG00000075945 chr1:169961056-169961056;G/C missense_variant False KIFAP3@p.G726E 1 0.233082707 ENSG00000075945 chr1:169954107-169954107;C/T missense_variant False KIFAP3@p.K246E 1 0.115384615 ENSG00000075945 chr1:170034378-170034378;T/C missense_variant False KIFAP3@p.K645N 1 0.127272727 ENSG00000075945 chr1:169972561-169972561;C/G missense_variant False KIFAP3@p.M484I 1 0.147727273 ENSG00000075945 chr1:169983324-169983324;C/T missense_variant False KIFAP3@p.Q209E 1 0.142857143 ENSG00000075945 chr1:170034489-170034489;G/C missense_variant False KIFBP@p.E110K 1 0.445783133 ENSG00000198954 chr10:68989160-68989160;G/A missense_variant False KIFBP@p.E290K 1 0.183431953 ENSG00000198954 chr10:69008919-69008919;G/A missense_variant False KIFBP@p.E84K 1 0.348314607 ENSG00000198954 chr10:68989082-68989082;G/A missense_variant False KIFBP@p.S178R 1 0.351351351 ENSG00000198954 chr10:69005054-69005054;T/A missense_variant False KIF6@p.E385Q 1 0.25 ENSG00000164627 chr6:39578084-39578084;C/G missense_variant False KIF5C@p.R812Q 1 0.142857143 ENSG00000168280 chr2:149005454-149005454;G/A missense_variant False KIF3C@p.F128L 1 0.3125 ENSG00000084731 chr2:25981534-25981534;G/T missense_variant False KIF4B@p.D716Y 1 0.536585366 ENSG00000226650 chr5:155016005-155016005;G/T missense_variant False KIF4B@p.S1051C 1 0.444444444 ENSG00000226650 chr5:155017011-155017011;C/G missense_variant False KIF4B@p.P1014A 1 0.432432432 ENSG00000226650 chr5:155016899-155016899;C/G missense_variant False KIF4B@p.M651V 1 0.366071429 ENSG00000226650 chr5:155015810-155015810;A/G missense_variant False KIF4B@p.L837Q 1 0.769230769 ENSG00000226650 chr5:155016369-155016369;T/A missense_variant False KIF4B@p.L1216V 1 0.428571429 ENSG00000226650 chr5:155017505-155017505;C/G missense_variant False KIF4B@p.K1181N 1 0.216216216 ENSG00000226650 chr5:155017402-155017402;G/C missense_variant False KIF4A@p.R295G 1 0.132352941 ENSG00000090889 chrX:70329509-70329509;C/G missense_variant False KIF5C@p.R204K 1 0.571428571 ENSG00000168280 chr2:148946920-148946920;G/A missense_variant False KIF4A@p.K586N 1 0.543478261 ENSG00000090889 chrX:70374234-70374234;G/C missense_variant False KIF4A@p.K128R 1 0.642857143 ENSG00000090889 chrX:70297145-70297145;A/G missense_variant False KIF3C@p.R741S 1 0.149253731 ENSG00000084731 chr2:25929370-25929370;C/A missense_variant False KIF3C@p.R741M 1 0.130434783 ENSG00000084731 chr2:25929371-25929371;C/A missense_variant False KIF3C@p.K163N 1 0.243243243 ENSG00000084731 chr2:25981429-25981429;C/G missense_variant False KIF3C@p.I634M 1 0.385321101 ENSG00000084731 chr2:25951893-25951893;G/C missense_variant False KIF4B@p.T423A 1 0.043478261 ENSG00000226650 chr5:155015126-155015126;A/G missense_variant False KIF5A@p.D433N 1 0.30952381 ENSG00000155980 chr12:57571324-57571324;G/A missense_variant False KIF5A@p.E679K 1 0.622641509 ENSG00000155980 chr12:57576098-57576098;G/A missense_variant False KIF5A@p.G293E 1 0.237113402 ENSG00000155980 chr12:57569314-57569314;G/A missense_variant False KIF5A@p.R191C 1 0.159663866 ENSG00000155980 chr12:57567195-57567195;C/T missense_variant False KIF5A@p.R204G 1 0.481481481 ENSG00000155980 chr12:57567514-57567514;C/G missense_variant False KIF5A@p.S915C 1 0.25 ENSG00000155980 chr12:57581161-57581161;C/G missense_variant False KIF5B@p.E6K 1 0.5 ENSG00000170759 chr10:32055958-32055958;C/T missense_variant False KIF5B@p.E872K 1 0.159090909 ENSG00000170759 chr10:32017290-32017290;C/T missense_variant False KIF5B@p.L768V 1 0.25136612 ENSG00000170759 chr10:32019862-32019862;G/C missense_variant False KIF5B@p.R355W 1 0.08974359 ENSG00000170759 chr10:32034738-32034738;G/A missense_variant False KIF5B@p.R890Vfs*10 1 0.11827957 ENSG00000170759 chr10:32017237-32017237;A/- frameshift_variant False KIF5B@p.S289L 1 0.309859155 ENSG00000170759 chr10:32035618-32035618;G/A missense_variant False KIF5B@p.T588A 1 0.260869565 ENSG00000170759 chr10:32023000-32023000;T/C missense_variant False KIF5C@p.D557H 1 0.159090909 ENSG00000168280 chr2:148983719-148983719;G/C missense_variant False KIF5C@p.E219Q 1 0.6 ENSG00000168280 chr2:148946964-148946964;G/C missense_variant False KIF5C@p.G825R 1 0.111111111 ENSG00000168280 chr2:149007990-149007990;G/C missense_variant False KLHDC3@p.E237K 1 0.271428571 ENSG00000124702 chr6:43018532-43018532;G/A missense_variant False KLHDC3@p.R239C 1 0.289940828 ENSG00000124702 chr6:43018538-43018538;C/T missense_variant False KIF22@p.E481K 1 0.465517241 ENSG00000079616 chr16:29802929-29802929;G/A missense_variant False KLK2@p.Y243H 1 0.327472527 ENSG00000167751 chr19:50878500-50878500;T/C missense_variant False KLK6@p.P217S 1 0.49 ENSG00000167755 chr19:50959250-50959250;G/A missense_variant False KLK6@p.G26R 1 0.648148148 ENSG00000167755 chr19:50967290-50967290;C/T missense_variant False KLK6@p.C28Y 1 0.302325581 ENSG00000167755 chr19:50967283-50967283;C/T missense_variant False KLK5@p.S175Y 1 0.340425532 ENSG00000167754 chr19:50948927-50948927;G/T missense_variant False KLK5@p.A107T 1 0.737704918 ENSG00000167754 chr19:50949871-50949871;C/T missense_variant False KLK3@p.S127L 1 0.341463415 ENSG00000142515 chr19:50858202-50858202;C/T missense_variant False KLK1@p.E148Q 1 0.170068027 ENSG00000167748 chr19:50820208-50820208;C/G missense_variant False KLK8@p.D143N 1 0.404761905 ENSG00000129455 chr19:51000062-51000062;C/T missense_variant False KLK15@p.S173T 1 0.155555556 ENSG00000174562 chr19:50826721-50826721;C/G missense_variant False KLK15@p.R130H 1 0.459459459 ENSG00000174562 chr19:50826970-50826970;C/T missense_variant False KLK15@p.P212S 1 0.631578947 ENSG00000174562 chr19:50825933-50825933;G/A missense_variant False KLK15@p.G73E 1 0.141935484 ENSG00000174562 chr19:50827141-50827141;C/T missense_variant False KLK15@p.E198Q 1 0.548387097 ENSG00000174562 chr19:50826647-50826647;C/G missense_variant False KLK15@p.E136K 1 0.148760331 ENSG00000174562 chr19:50826953-50826953;C/T missense_variant False KLK6@p.V89L 1 0.15 ENSG00000167755 chr19:50963482-50963482;C/G missense_variant False KLK8@p.V63* 1 0.103448276 ENSG00000129455 chr19:51000470-51000470;G/- frameshift_variant False KLHDC3@p.T223A 1 0.572916667 ENSG00000124702 chr6:43018490-43018490;A/G missense_variant False KLRC3@p.E161Q 1 0.226277372 ENSG00000205810 chr12:10418349-10418349;C/G missense_variant False KLRF1@p.L180F 1 0.111111111 ENSG00000150045 chr12:9842386-9842386;G/C missense_variant False KLRF1@p.E5Q 1 0.098591549 ENSG00000150045 chr12:9827557-9827557;G/C missense_variant False KLRC4@p.Q15R 1 0.367088608 ENSG00000183542 chr12:10409532-10409532;T/C missense_variant False KLRC4@p.L158V 1 0.24567474 ENSG00000183542 chr12:10407658-10407658;G/C missense_variant False KLRC4@p.D51H 1 0.078125 ENSG00000183542 chr12:10409425-10409425;C/G missense_variant False KLRC3@p.L153V 1 0.157894737 ENSG00000205810 chr12:10418373-10418373;G/C missense_variant False KLRC3@p.D60H 1 0.119205298 ENSG00000205810 chr12:10420373-10420373;C/G missense_variant False KLKB1@p.S190L 1 0.183098592 ENSG00000164344 chr4:186238336-186238336;C/T missense_variant False KLRC2@p.S171L 1 0.282051282 ENSG00000205809 chr12:10432178-10432178;G/A missense_variant False KLRC2@p.Q4H 1 0.059701493 ENSG00000205809 chr12:10435975-10435975;T/G missense_variant False KLRC2@p.A217T 1 0.947368421 ENSG00000205809 chr12:10431164-10431164;C/T missense_variant False KLRB1@p.S81R 1 0.252631579 ENSG00000111796 chr12:9599783-9599783;G/T missense_variant False KLRB1@p.F172V 1 0.444444444 ENSG00000111796 chr12:9598062-9598062;A/C missense_variant False KLRB1@p.E19K 1 0.13559322 ENSG00000111796 chr12:9607785-9607785;C/T missense_variant False KLK15@p.A29S 1 0.133333333 ENSG00000174562 chr19:50827774-50827774;C/A missense_variant False KLK14@p.V188A 1 0.045238095 ENSG00000129437 chr19:51078855-51078855;A/G missense_variant False KLK14@p.S199C 1 0.231788079 ENSG00000129437 chr19:51078822-51078822;G/C missense_variant False KLHL6@p.E357Q 1 0.061302682 ENSG00000172578 chr3:183499668-183499668;C/G missense_variant False KLHL7@p.D119N 1 0.333333333 ENSG00000122550 chr7:23125085-23125085;G/A missense_variant False KLHL6@p.S397L 1 0.496 ENSG00000172578 chr3:183494239-183494239;G/A missense_variant False KLHL6@p.R515Q 1 0.263157895 ENSG00000172578 chr3:183492514-183492514;C/T missense_variant False KLHL6@p.R434K 1 0.388297872 ENSG00000172578 chr3:183494128-183494128;C/T missense_variant False KLHL6@p.I305F 1 0.125 ENSG00000172578 chr3:183499824-183499824;T/A missense_variant False KLHL6@p.G427A 1 0.339805825 ENSG00000172578 chr3:183494149-183494149;C/G missense_variant False KLHL6@p.E336K 1 0.393617021 ENSG00000172578 chr3:183499731-183499731;C/T missense_variant False KLK13@p.R190H 1 0.214876033 ENSG00000167759 chr19:51058614-51058614;C/T missense_variant False KLHL6@p.E259K 1 0.356756757 ENSG00000172578 chr3:183508193-183508193;C/T missense_variant False KLHL5@p.H234Y 1 0.188679245 ENSG00000109790 chr4:39076143-39076143;C/T missense_variant False KLHL5@p.D686N 1 0.222222222 ENSG00000109790 chr4:39115175-39115175;G/A missense_variant False KLHL4@p.T461N 1 0.23255814 ENSG00000102271 chrX:87632267-87632267;C/A missense_variant False KLHL4@p.S634C 1 0.215686275 ENSG00000102271 chrX:87635751-87635751;C/G missense_variant False KLHL4@p.Q85H 1 0.137931034 ENSG00000102271 chrX:87518148-87518148;G/C missense_variant False KLHL7@p.D481H 1 0.276785714 ENSG00000122550 chr7:23173009-23173009;G/C missense_variant False KLHL7@p.E160K 1 0.544117647 ENSG00000122550 chr7:23140804-23140804;G/A missense_variant False KLHL7@p.R285T 1 0.16 ENSG00000122550 chr7:23152127-23152127;G/C missense_variant False KLHL8@p.E203K 1 0.214285714 ENSG00000145332 chr4:87185409-87185409;C/T missense_variant False KLHL8@p.E225K 1 0.227272727 ENSG00000145332 chr4:87185343-87185343;C/T missense_variant False KLHL9@p.H393Y 1 0.153061224 ENSG00000198642 chr9:21333683-21333683;G/A missense_variant False KLHL9@p.L610V 1 0.230769231 ENSG00000198642 chr9:21333032-21333032;G/C missense_variant False KLHL9@p.Q88R 1 0.213903743 ENSG00000198642 chr9:21334597-21334597;T/C missense_variant False KLHL9@p.R229W 1 0.147058824 ENSG00000198642 chr9:21334175-21334175;G/A missense_variant False KLHL9@p.S13F 1 0.244444444 ENSG00000198642 chr9:21334822-21334822;G/A missense_variant False KLHL9@p.S617C 1 0.370967742 ENSG00000198642 chr9:21333010-21333010;G/C missense_variant False KLK10@p.M213I 1 0.177777778 ENSG00000129451 chr19:51015456-51015456;C/G missense_variant False KLK11@p.Q246E 1 0.25 ENSG00000167757 chr19:51022658-51022658;G/C missense_variant False KLK12@p.D132Y 1 0.32 ENSG00000186474 chr19:51031939-51031939;C/A missense_variant False KLK12@p.V124I 1 0.396226415 ENSG00000186474 chr19:51031963-51031963;C/T missense_variant False KLK13@p.A179S 1 0.506382979 ENSG00000167759 chr19:51058648-51058648;C/A missense_variant False KLK13@p.K196N 1 0.070422535 ENSG00000167759 chr19:51058595-51058595;C/G missense_variant False KLRF1@p.W135C 1 0.418604651 ENSG00000150045 chr12:9841882-9841882;G/C missense_variant False KLRG1@p.R78H 1 0.161764706 ENSG00000139187 chr12:8995164-8995164;G/A missense_variant False KLRG2@p.E108Q 1 0.428571429 ENSG00000188883 chr7:139483321-139483321;C/G missense_variant False KMT2B@p.E2006Q 1 0.169811321 ENSG00000272333 chr19:35732565-35732565;G/C missense_variant False KMT2B@p.R2712Q 1 0.466666667 ENSG00000272333 chr19:35738544-35738544;G/A missense_variant False KMT2B@p.Q236L 1 0.260869565 ENSG00000272333 chr19:35720054-35720054;A/T missense_variant False KMT2B@p.L1822Tfs*12 1 0.136363636 ENSG00000272333 chr19:35731926-35731927;-/C frameshift_variant False KMT2B@p.K716N 1 0.145299145 ENSG00000272333 chr19:35721495-35721495;G/C missense_variant False KMT2B@p.K516E 1 0.227272727 ENSG00000272333 chr19:35720893-35720893;A/G missense_variant False KMT2B@p.G1985A 1 0.113636364 ENSG00000272333 chr19:35732503-35732503;G/C missense_variant False KMT2B@p.E120D 1 0.2 ENSG00000272333 chr19:35718378-35718378;G/T missense_variant False KMT2A@p.S3431C 1 0.589473684 ENSG00000118058 chr11:118506193-118506193;C/G missense_variant False KMT2B@p.D1687N 1 0.322580645 ENSG00000272333 chr19:35730108-35730108;G/A missense_variant False KMT2B@p.D1033N 1 0.384615385 ENSG00000272333 chr19:35723770-35723770;G/A missense_variant False KMT2B@p.A673V 1 0.416666667 ENSG00000272333 chr19:35721365-35721365;C/T missense_variant False KMT2A@p.V3927Hfs*6 1 0.375 ENSG00000118058 chr11:118522040-118522041;TG/- frameshift_variant False KMT2A@p.S888L 1 0.58974359 ENSG00000118058 chr11:118473822-118473822;C/T missense_variant False KMT2A@p.S774Vfs*12 1 0.27972028 ENSG00000118058 chr11:118473470-118473471;-/C frameshift_variant False KMT2B@p.R962H 1 0.105263158 ENSG00000272333 chr19:35723157-35723157;G/A missense_variant False KMT2B@p.S1871L 1 0.28 ENSG00000272333 chr19:35732082-35732082;C/T missense_variant False KMT2B@p.S1946L 1 0.474576271 ENSG00000272333 chr19:35732386-35732386;C/T missense_variant False KMT2B@p.S2698C 1 0.111111111 ENSG00000272333 chr19:35738501-35738501;A/T missense_variant False KMT2B@p.T995S 1 0.375 ENSG00000272333 chr19:35723255-35723255;A/T missense_variant False KMT2C@p.A2254V 1 0.125 ENSG00000055609 chr7:152181099-152181099;G/A missense_variant True KMT2C@p.A2858Lfs*6 1 0.280254777 ENSG00000055609 chr7:152176881-152176882;-/AG frameshift_variant True KMT2C@p.C4465Y 1 0.202453988 ENSG00000055609 chr7:152148533-152148533;C/T missense_variant True KMT2C@p.C4643Kfs*13 1 0.325 ENSG00000055609 chr7:152146694-152146703;TTCTCACACA/- frameshift_variant True KMT2C@p.C960R 1 0.090909091 ENSG00000055609 chr7:152230021-152230021;A/G missense_variant True KMT2C@p.D1384N 1 0.5 ENSG00000055609 chr7:152199402-152199402;C/T missense_variant True KMT2C@p.D1714H 1 0.438383838 ENSG00000055609 chr7:152183099-152183099;C/G missense_variant True KMT2C@p.D1951H 1 0.203488372 ENSG00000055609 chr7:152182009-152182009;C/G missense_variant True KMT2C@p.D2037H 1 0.408450704 ENSG00000055609 chr7:152181751-152181751;C/G missense_variant True KMT2C@p.D2366Efs*6 1 0.457142857 ENSG00000055609 chr7:152180762-152180762;A/- frameshift_variant True KMT2C@p.D238N 1 0.102941176 ENSG00000055609 chr7:152311825-152311825;C/T missense_variant True KMT2C@p.D2746N 1 0.230769231 ENSG00000055609 chr7:152177217-152177217;C/T missense_variant True KMT2A@p.S728F 1 0.638888889 ENSG00000118058 chr11:118473342-118473342;C/T missense_variant False KMT2A@p.S3277L 1 0.220930233 ENSG00000118058 chr11:118505731-118505731;C/T missense_variant False KLRG2@p.E315K 1 0.15 ENSG00000188883 chr7:139479689-139479689;C/T missense_variant False KMT2A@p.D2840N 1 0.296296296 ENSG00000118058 chr11:118504419-118504419;G/A missense_variant False KMT2A@p.E2563Lfs*2 1 0.323529412 ENSG00000118058 chr11:118503582-118503583;-/CCTC frameshift_variant False KMT2A@p.E2532D 1 0.127659574 ENSG00000118058 chr11:118503497-118503497;G/T missense_variant False KMT2A@p.E2506Q 1 0.119047619 ENSG00000118058 chr11:118503417-118503417;G/C missense_variant False KMT2A@p.E2506K 1 0.29787234 ENSG00000118058 chr11:118503417-118503417;G/A missense_variant False KMT2A@p.E2448* 1 0.350649351 ENSG00000118058 chr11:118503242-118503254;GGAACCTGGTCAG/- frameshift_variant False KMT2A@p.E1165K 1 0.35443038 ENSG00000118058 chr11:118478125-118478125;G/A missense_variant False KMT2A@p.D2839N 1 0.278195489 ENSG00000118058 chr11:118504416-118504416;G/A missense_variant False KMT2A@p.S3237C 1 0.278688525 ENSG00000118058 chr11:118505611-118505611;C/G missense_variant False KMT2A@p.D1707N 1 0.142857143 ENSG00000118058 chr11:118493180-118493180;G/A missense_variant False KMO@p.L90V 1 0.331288344 ENSG00000117009 chr1:241551000-241551000;C/G missense_variant False KLRK1@p.S194L 1 0.62962963 ENSG00000213809 chr12:10373184-10373184;G/A missense_variant False KLRK1@p.E183K 1 0.543209877 ENSG00000213809 chr12:10373218-10373218;C/T missense_variant False KLRG2@p.S308F 1 0.088235294 ENSG00000188883 chr7:139479709-139479709;G/A missense_variant False KLRG2@p.R289T 1 0.166666667 ENSG00000188883 chr7:139479766-139479766;C/G missense_variant False KMT2A@p.E2765Q 1 0.076923077 ENSG00000118058 chr11:118504194-118504194;G/C missense_variant False KMT2A@p.E460K 1 0.279069767 ENSG00000118058 chr11:118472537-118472537;G/A missense_variant False KMT2A@p.F2437L 1 0.183333333 ENSG00000118058 chr11:118503212-118503212;C/G missense_variant False KMT2A@p.G3585E 1 0.305555556 ENSG00000118058 chr11:118507537-118507537;G/A missense_variant False KMT2A@p.I2117Kfs*57 1 0.208955224 ENSG00000118058 chr11:118501709-118501710;TA/- frameshift_variant False KMT2A@p.I233M 1 0.205128205 ENSG00000118058 chr11:118471858-118471858;C/G missense_variant False KMT2A@p.K1039N 1 0.164179104 ENSG00000118058 chr11:118474276-118474276;G/C missense_variant False KMT2A@p.L2372F 1 0.083333333 ENSG00000118058 chr11:118503017-118503017;G/C missense_variant False KMT2A@p.N1473Ifs*113 1 0.37037037 ENSG00000118058 chr11:118488696-118488696;A/- frameshift_variant False KMT2A@p.P2126L 1 0.21641791 ENSG00000118058 chr11:118501738-118501738;C/T missense_variant False KMT2A@p.P2983S 1 0.559322034 ENSG00000118058 chr11:118504848-118504848;C/T missense_variant False KMT2A@p.P3263A 1 0.171052632 ENSG00000118058 chr11:118505688-118505688;C/G missense_variant False KMT2A@p.Q1162H 1 0.176923077 ENSG00000118058 chr11:118478118-118478118;G/C missense_variant False KMT2A@p.R2477Q 1 0.128205128 ENSG00000118058 chr11:118503331-118503331;G/A missense_variant False KMT2A@p.S2355F 1 0.11965812 ENSG00000118058 chr11:118502965-118502965;C/T missense_variant False KMT2A@p.S261F 1 0.27027027 ENSG00000118058 chr11:118471941-118471941;C/T missense_variant False KMT2A@p.S308L 1 0.162162162 ENSG00000118058 chr11:118472082-118472082;C/T missense_variant False KLHL4@p.K219R 1 0.106382979 ENSG00000102271 chrX:87614499-87614499;A/G missense_variant False KLHL42@p.E280K 1 0.357142857 ENSG00000087448 chr12:27781168-27781168;G/A missense_variant False KLHL42@p.E215K 1 0.466666667 ENSG00000087448 chr12:27780973-27780973;G/A missense_variant False KLHL13@p.S158C 1 0.342465753 ENSG00000003096 chrX:117919618-117919618;G/C missense_variant False KLHL15@p.R387T 1 0.568 ENSG00000174010 chrX:23988576-23988576;C/G missense_variant False KLHL15@p.K473N 1 0.552380952 ENSG00000174010 chrX:23988317-23988317;C/G missense_variant False KLHL15@p.E518K 1 0.80141844 ENSG00000174010 chrX:23988184-23988184;C/T missense_variant False KLHL15@p.E115Q 1 0.422535211 ENSG00000174010 chrX:24006351-24006351;C/G missense_variant False KLHL14@p.W27C 1 0.511111111 ENSG00000197705 chr18:32770511-32770511;C/A missense_variant False KLHL14@p.R263H 1 0.3125 ENSG00000197705 chr18:32769804-32769804;C/T missense_variant False KLHL13@p.P416H 1 0.636363636 ENSG00000003096 chrX:117909420-117909420;G/T missense_variant False KLHL12@p.D388H 1 0.141104294 ENSG00000117153 chr1:202894723-202894723;C/G missense_variant False KLHL13@p.I149T 1 0.397435897 ENSG00000003096 chrX:117919645-117919645;A/G missense_variant False KLHL12@p.S395N 1 0.445783133 ENSG00000117153 chr1:202894701-202894701;C/T missense_variant False KLHL12@p.R38T 1 0.276923077 ENSG00000117153 chr1:202925050-202925050;C/G missense_variant False KLHL12@p.R330Q 1 0.107438017 ENSG00000117153 chr1:202895668-202895668;C/T missense_variant False KLHL12@p.P216A 1 0.057142857 ENSG00000117153 chr1:202911125-202911125;G/C missense_variant False KLHL12@p.E263K 1 0.089655172 ENSG00000117153 chr1:202909055-202909055;C/T missense_variant False KLHL17@p.D576Y 1 0.6 ENSG00000187961 chr1:964988-964988;G/T missense_variant False KLHL17@p.E228Afs*13 1 0.136363636 ENSG00000187961 chr1:962018-962028;GAGGAGTTTAT/- frameshift_variant False KLHL17@p.E454Q 1 0.504854369 ENSG00000187961 chr1:963924-963924;G/C missense_variant False KLHL17@p.M125I 1 0.772727273 ENSG00000187961 chr1:961636-961636;G/A missense_variant False KLHL17@p.P633L 1 0.380952381 ENSG00000187961 chr1:965160-965160;C/T missense_variant False KLHL17@p.R390L 1 0.233333333 ENSG00000187961 chr1:963235-963235;G/T missense_variant False KLHL18@p.E406Q 1 0.052238806 ENSG00000114648 chr3:47340666-47340666;G/C missense_variant False KLHL18@p.E429Q 1 0.271604938 ENSG00000114648 chr3:47342777-47342777;G/C missense_variant False KLHL18@p.M554I 1 0.155660377 ENSG00000114648 chr3:47343878-47343878;G/T missense_variant False KLHL18@p.V306A 1 0.673913043 ENSG00000114648 chr3:47336553-47336553;T/C missense_variant False KLHL1@p.D10N 1 0.238095238 ENSG00000150361 chr13:70107672-70107672;C/T missense_variant False KLHL1@p.D235E 1 0.142857143 ENSG00000150361 chr13:69961420-69961420;G/T missense_variant False KLHL1@p.E196K 1 0.390243902 ENSG00000150361 chr13:69975714-69975714;C/T missense_variant False KLHL1@p.E372K 1 0.234567901 ENSG00000150361 chr13:69882396-69882396;C/T missense_variant False KLHL1@p.G500V 1 0.327868852 ENSG00000150361 chr13:69796878-69796878;C/A missense_variant False KLHL1@p.H377R 1 0.375 ENSG00000150361 chr13:69882380-69882380;T/C missense_variant False KLHL1@p.L119F 1 0.275229358 ENSG00000150361 chr13:70107345-70107345;G/A missense_variant False KLHL12@p.E198Q 1 0.399159664 ENSG00000117153 chr1:202911179-202911179;C/G missense_variant False KLHL12@p.D237H 1 0.427272727 ENSG00000117153 chr1:202911062-202911062;C/G missense_variant False KLHL1@p.Q190E 1 0.34375 ENSG00000150361 chr13:69975732-69975732;G/C missense_variant False KLHDC7A@p.E704K 1 0.326086957 ENSG00000179023 chr1:18483091-18483091;G/A missense_variant False KLHDC7B@p.E374K 1 0.275862069 ENSG00000130487 chr22:50549286-50549286;G/A missense_variant False KLHDC7B@p.E340K 1 0.828125 ENSG00000130487 chr22:50549184-50549184;G/A missense_variant False KLHDC7A@p.T440S 1 0.170212766 ENSG00000179023 chr1:18482299-18482299;A/T missense_variant False KLHDC7A@p.R4Gfs*81 1 0.363636364 ENSG00000179023 chr1:18480987-18481003;CCCCAGAGGAGCAGAGG/- frameshift_variant False KLHDC7A@p.R269Q 1 0.383333333 ENSG00000179023 chr1:18481787-18481787;G/A missense_variant False KLHDC7A@p.I471V 1 0.084507042 ENSG00000179023 chr1:18482392-18482392;A/G missense_variant False KLHDC7A@p.D177N 1 0.272727273 ENSG00000179023 chr1:18481510-18481510;G/A missense_variant False KLHL11@p.S113L 1 0.21875 ENSG00000178502 chr17:41865033-41865033;G/A missense_variant False KLHDC4@p.V245I 1 0.338983051 ENSG00000104731 chr16:87726791-87726791;C/T missense_variant False KLHDC4@p.S224L 1 0.25 ENSG00000104731 chr16:87726853-87726853;G/A missense_variant False KLHDC4@p.S175L 1 0.144144144 ENSG00000104731 chr16:87730627-87730627;G/A missense_variant False KLHDC4@p.R432C 1 0.224770642 ENSG00000104731 chr16:87709418-87709418;G/A missense_variant False KLHDC4@p.G406V 1 0.27027027 ENSG00000104731 chr16:87709495-87709495;C/A missense_variant False KLHDC4@p.A518V 1 0.393063584 ENSG00000104731 chr16:87708361-87708361;G/A missense_variant False KLHDC7B@p.G360E 1 0.173184358 ENSG00000130487 chr22:50549245-50549245;G/A missense_variant False KLHDC7B@p.R431H 1 0.553846154 ENSG00000130487 chr22:50549458-50549458;G/A missense_variant False KLHDC8A@p.Q289E 1 0.236641221 ENSG00000162873 chr1:205337587-205337587;G/C missense_variant False KLHDC8B@p.A338V 1 0.148648649 ENSG00000185909 chr3:49175749-49175749;C/T missense_variant False KLHDC8B@p.D196H 1 0.261904762 ENSG00000185909 chr3:49174786-49174786;G/C missense_variant False KLHDC8B@p.E149K 1 0.480769231 ENSG00000185909 chr3:49174307-49174307;G/A missense_variant False KLHDC8B@p.F251V 1 0.137614679 ENSG00000185909 chr3:49174951-49174951;T/G missense_variant False KLHDC8B@p.G216D 1 0.173913043 ENSG00000185909 chr3:49174847-49174847;G/A missense_variant False KLHL10@p.D489H 1 0.436440678 ENSG00000161594 chr17:41847945-41847945;G/C missense_variant False KLHL10@p.M245I 1 0.240740741 ENSG00000161594 chr17:41845176-41845176;G/A missense_variant False KLHL11@p.D226H 1 0.214285714 ENSG00000178502 chr17:41855191-41855191;C/G missense_variant False KLHL11@p.E175K 1 0.305555556 ENSG00000178502 chr17:41864848-41864848;C/T missense_variant False KLHL11@p.E334Q 1 0.294117647 ENSG00000178502 chr17:41854867-41854867;C/G missense_variant False KLHL11@p.E530K 1 0.324324324 ENSG00000178502 chr17:41854279-41854279;C/T missense_variant False KLHL11@p.E690D 1 0.324840764 ENSG00000178502 chr17:41853797-41853797;C/G missense_variant False KLHL11@p.L430F 1 0.575221239 ENSG00000178502 chr17:41854577-41854577;C/G missense_variant False KLHL11@p.R41P 1 0.185185185 ENSG00000178502 chr17:41865249-41865249;C/G missense_variant False KLHL1@p.P131T 1 0.131147541 ENSG00000150361 chr13:70107309-70107309;G/T missense_variant False KLHL1@p.S76C 1 0.065217391 ENSG00000150361 chr13:70107473-70107473;G/C missense_variant False KLHL42@p.E159K 1 0.122881356 ENSG00000087448 chr12:27780805-27780805;G/A missense_variant False KLHL35@p.D297N 1 0.25 ENSG00000149243 chr11:75428619-75428619;C/T missense_variant False KLHL38@p.I385M 1 0.196531792 ENSG00000175946 chr8:123651772-123651772;G/C missense_variant False KLHL38@p.F219L 1 0.123655914 ENSG00000175946 chr8:123652270-123652270;G/C missense_variant False KLHL36@p.E407K 1 0.301369863 ENSG00000135686 chr16:84659841-84659841;G/A missense_variant False KLHL36@p.E233Q 1 0.177777778 ENSG00000135686 chr16:84657504-84657504;G/C missense_variant False KLHL35@p.E342K 1 0.205882353 ENSG00000149243 chr11:75428484-75428484;C/T missense_variant False KLHL35@p.D547H 1 0.292307692 ENSG00000149243 chr11:75422693-75422693;C/G missense_variant False KLHL34@p.R190L 1 0.5 ENSG00000185915 chrX:21657220-21657220;C/A missense_variant False KLHL2@p.S372F 1 0.34841629 ENSG00000109466 chr4:165310628-165310628;C/T missense_variant False KLHL34@p.P301L 1 0.461538462 ENSG00000185915 chrX:21656887-21656887;G/A missense_variant False KLHL32@p.L563V 1 0.125 ENSG00000186231 chr6:97132733-97132733;C/G missense_variant False KLHL32@p.G87S 1 0.085470085 ENSG00000186231 chr6:97041546-97041546;G/A missense_variant False KLHL32@p.E300K 1 0.211538462 ENSG00000186231 chr6:97114053-97114053;G/A missense_variant False KLHL31@p.R110M 1 0.293706294 ENSG00000124743 chr6:53654944-53654944;C/A missense_variant False KLHL30@p.I382T 1 0.775 ENSG00000168427 chr2:238145827-238145827;T/C missense_variant False KLHL38@p.M442K 1 0.23364486 ENSG00000175946 chr8:123651602-123651602;A/T missense_variant False KLHL3@p.A494T 1 0.452991453 ENSG00000146021 chr5:137628408-137628408;C/T missense_variant False KLHL3@p.D281Y 1 0.181818182 ENSG00000146021 chr5:137658193-137658193;C/A missense_variant False KLHL3@p.R431Q 1 0.214285714 ENSG00000146021 chr5:137637323-137637323;C/T missense_variant False KLHL40@p.D473N 1 0.157894737 ENSG00000157119 chr3:42688713-42688713;G/A missense_variant False KLHL40@p.D509N 1 0.258064516 ENSG00000157119 chr3:42688972-42688972;G/A missense_variant False KLHL40@p.E10K 1 0.666666667 ENSG00000157119 chr3:42685646-42685646;G/A missense_variant False KLHL40@p.E249K 1 0.5 ENSG00000157119 chr3:42686363-42686363;G/A missense_variant False KLHL40@p.E67Q 1 0.310344828 ENSG00000157119 chr3:42685817-42685817;G/C missense_variant False KLHL40@p.S122F 1 0.314049587 ENSG00000157119 chr3:42685983-42685983;C/T missense_variant False KLHL40@p.Y90F 1 0.182795699 ENSG00000157119 chr3:42685887-42685887;A/T missense_variant False KLHL41@p.E29K 1 0.185714286 ENSG00000239474 chr2:169509863-169509863;G/A missense_variant False KLHL41@p.E358Q 1 0.5 ENSG00000239474 chr2:169510850-169510850;G/C missense_variant False KLHL41@p.E377K 1 0.435483871 ENSG00000239474 chr2:169514592-169514592;G/A missense_variant False KLHL41@p.E429K 1 0.12 ENSG00000239474 chr2:169514870-169514870;G/A missense_variant False KLHL41@p.E572A 1 0.456790123 ENSG00000239474 chr2:169525590-169525590;A/C missense_variant False KLHL41@p.P176L 1 0.293706294 ENSG00000239474 chr2:169510305-169510305;C/T missense_variant False KLHL2@p.V526F 1 0.417322835 ENSG00000109466 chr4:165314133-165314133;G/T missense_variant False KLHL2@p.R252Q 1 0.365079365 ENSG00000109466 chr4:165297709-165297709;G/A missense_variant False KLHL1@p.V192F 1 0.552631579 ENSG00000150361 chr13:69975726-69975726;C/A missense_variant False KLHL22@p.D373H 1 0.290322581 ENSG00000099910 chr22:20457996-20457996;C/G missense_variant False KLHL23@p.S121L 1 0.329787234 ENSG00000213160 chr2:169735376-169735376;C/T missense_variant False KLHL23@p.G515V 1 0.232323232 ENSG00000213160 chr2:169749599-169749599;G/T missense_variant False KLHL23@p.E528Q 1 0.138686131 ENSG00000213160 chr2:169749637-169749637;G/C missense_variant False KLHL23@p.E384K 1 0.222222222 ENSG00000213160 chr2:169736164-169736164;G/A missense_variant False KLHL23@p.D434E 1 0.0625 ENSG00000213160 chr2:169741473-169741473;C/A missense_variant False KLHL22@p.I382M 1 0.351648352 ENSG00000099910 chr22:20457967-20457967;G/C missense_variant False KLHL21@p.S346T 1 0.333333333 ENSG00000162413 chr1:6599438-6599438;A/T missense_variant False KLHL2@p.M292I 1 0.264705882 ENSG00000109466 chr4:165299611-165299611;G/T missense_variant False KLHL21@p.M498I 1 0.294117647 ENSG00000162413 chr1:6595491-6595491;C/T missense_variant False KLHL20@p.R591W 1 0.417582418 ENSG00000076321 chr1:173785188-173785188;C/T missense_variant False KLHL20@p.D178N 1 0.073684211 ENSG00000076321 chr1:173734221-173734221;G/A missense_variant False KLHL1@p.V705I 1 0.863636364 ENSG00000150361 chr13:69707699-69707699;C/T missense_variant False KLHL1@p.V535F 1 0.084745763 ENSG00000150361 chr13:69796774-69796774;C/A missense_variant False KLHL1@p.V510L 1 0.4375 ENSG00000150361 chr13:69796849-69796849;C/G missense_variant False KLHL24@p.D465Y 1 0.481751825 ENSG00000114796 chr3:183671202-183671202;G/T missense_variant False KLHL24@p.E287K 1 0.448979592 ENSG00000114796 chr3:183651215-183651215;G/A missense_variant False KLHL24@p.F91L 1 0.138095238 ENSG00000114796 chr3:183650629-183650629;C/G missense_variant False KLHL24@p.R245K 1 0.421875 ENSG00000114796 chr3:183651090-183651090;G/A missense_variant False KLHL24@p.R371T 1 0.106060606 ENSG00000114796 chr3:183664927-183664927;G/C missense_variant False KLHL24@p.S481C 1 0.156862745 ENSG00000114796 chr3:183672324-183672324;C/G missense_variant False KLHL25@p.D500H 1 0.123966942 ENSG00000183655 chr15:85768313-85768313;C/G missense_variant False KLHL25@p.K273N 1 0.342105263 ENSG00000183655 chr15:85768992-85768992;C/G missense_variant False KLHL26@p.E273K 1 0.063492063 ENSG00000167487 chr19:18668214-18668214;G/A missense_variant False KLHL28@p.E175Q 1 0.765217391 ENSG00000179454 chr14:44945406-44945406;C/G missense_variant False KLHL28@p.H242R 1 0.27173913 ENSG00000179454 chr14:44945204-44945204;T/C missense_variant False KLHL28@p.H270D 1 0.296875 ENSG00000179454 chr14:44945121-44945121;G/C missense_variant False KLHL28@p.M512I 1 0.514285714 ENSG00000179454 chr14:44931349-44931349;C/A missense_variant False KLHL28@p.Q307E 1 0.065217391 ENSG00000179454 chr14:44934539-44934539;G/C missense_variant False KLHL28@p.S550L 1 0.4 ENSG00000179454 chr14:44929095-44929095;G/A missense_variant False KLHL2@p.D590H 1 0.145833333 ENSG00000109466 chr4:165322046-165322046;G/C missense_variant False KLHL2@p.E426Sfs*5 1 0.261904762 ENSG00000109466 chr4:165311502-165311502;G/- frameshift_variant False KIF22@p.E569K 1 0.461538462 ENSG00000079616 chr16:29804841-29804841;G/A missense_variant False KIF21B@p.S259W 1 0.394495413 ENSG00000116852 chr1:201004890-201004890;G/C missense_variant False KDM3B@p.R276Kfs*21 1 0.092307692 ENSG00000120733 chr5:138386066-138386067;-/A frameshift_variant False KHDRBS3@p.Q282H 1 0.227642276 ENSG00000131773 chr8:135606993-135606993;G/C missense_variant False KHNYN@p.R582Q 1 0.146341463 ENSG00000100441 chr14:24436447-24436447;G/A missense_variant False KHNYN@p.L343I 1 0.072992701 ENSG00000100441 chr14:24432288-24432288;C/A missense_variant False KHNYN@p.A205V 1 0.17721519 ENSG00000100441 chr14:24431875-24431875;C/T missense_variant False KHK@p.S28W 1 0.533333333 ENSG00000138030 chr2:27087342-27087342;C/G missense_variant False KHDRBS3@p.S290R 1 0.28030303 ENSG00000131773 chr8:135607017-135607017;C/A missense_variant False KHDRBS3@p.R239I 1 0.215384615 ENSG00000131773 chr8:135581982-135581982;G/T missense_variant False KHDRBS3@p.M95Nfs*31 1 0.220963173 ENSG00000131773 chr8:135542724-135542725;-/A frameshift_variant False KHSRP@p.I249F 1 0.121212121 ENSG00000088247 chr19:6418737-6418737;T/A missense_variant False KHDRBS3@p.G227V 1 0.218978102 ENSG00000131773 chr8:135581946-135581946;G/T missense_variant False KHDRBS3@p.A211V 1 0.157894737 ENSG00000131773 chr8:135581898-135581898;C/T missense_variant False KHDRBS2@p.Y276C 1 0.381578947 ENSG00000112232 chr6:61732748-61732748;T/C missense_variant False KHDRBS2@p.R338T 1 0.133333333 ENSG00000112232 chr6:61681000-61681000;C/G missense_variant False KHDRBS2@p.R224W 1 0.269230769 ENSG00000112232 chr6:61894775-61894775;G/A missense_variant False KHDRBS2@p.L221V 1 0.081632653 ENSG00000112232 chr6:61894784-61894784;G/C missense_variant False KHSRP@p.G246V 1 0.147540984 ENSG00000088247 chr19:6418745-6418745;C/A missense_variant False KHSRP@p.R304Q 1 0.178571429 ENSG00000088247 chr19:6418048-6418048;C/T missense_variant False KIAA1109@p.K4788N 1 0.37254902 None chr4:122355854-122355854;G/C missense_variant False KIAA0100@p.H1445N 1 0.647887324 None chr17:28628526-28628526;G/T missense_variant False KIAA0100@p.R528P 1 0.410714286 None chr17:28638024-28638024;C/G missense_variant False KIAA0100@p.R2092C 1 0.243589744 None chr17:28616393-28616393;G/A missense_variant False KIAA0100@p.R1897Q 1 0.234693878 None chr17:28618924-28618924;C/T missense_variant False KIAA0100@p.Q1935H 1 0.313953488 None chr17:28618809-28618809;C/G missense_variant False KIAA0100@p.N1877K 1 0.259259259 None chr17:28619665-28619665;A/T missense_variant False KIAA0100@p.H1610Q 1 0.038297872 None chr17:28623889-28623889;G/T missense_variant False KIAA0100@p.F1549L 1 0.11627907 None chr17:28624338-28624338;G/T missense_variant False KIAA0100@p.A742P 1 0.064935065 None chr17:28635363-28635363;C/G missense_variant False KIAA0100@p.E993K 1 0.329113924 None chr17:28634610-28634610;C/T missense_variant False KIAA0100@p.E1541K 1 0.205128205 None chr17:28624364-28624364;C/T missense_variant False KIAA0100@p.D690H 1 0.352941176 None chr17:28635519-28635519;C/G missense_variant False KIAA0100@p.D2101N 1 0.289473684 None chr17:28616185-28616185;C/T missense_variant False KIAA0100@p.D2042N 1 0.329896907 None chr17:28616651-28616651;C/T missense_variant False KIAA0100@p.D1544N 1 0.3 None chr17:28624355-28624355;C/T missense_variant False KHDRBS2@p.H132D 1 0.418918919 ENSG00000112232 chr6:61978155-61978155;G/C missense_variant False KHDRBS2@p.G225E 1 0.3 ENSG00000112232 chr6:61894771-61894771;C/T missense_variant False KHDRBS1@p.S407F 1 0.195652174 ENSG00000121774 chr1:32039559-32039559;C/T missense_variant False KEL@p.G109E 1 0.61627907 ENSG00000197993 chr7:142961002-142961002;C/T missense_variant False KERA@p.C48S 1 0.363636364 ENSG00000139330 chr12:91056139-91056139;C/G missense_variant False KEL@p.V539A 1 0.517857143 ENSG00000197993 chr7:142943573-142943573;A/G missense_variant False KEL@p.V350L 1 0.342541436 ENSG00000197993 chr7:142953833-142953833;C/A missense_variant False KEL@p.S546C 1 0.216666667 ENSG00000197993 chr7:142943552-142943552;G/C missense_variant False KEL@p.R386K 1 0.289473684 ENSG00000197993 chr7:142952555-142952555;C/T missense_variant False KEL@p.G3D 1 0.210144928 ENSG00000197993 chr7:142961868-142961868;C/T missense_variant False KEL@p.E78D 1 0.128205128 ENSG00000197993 chr7:142961094-142961094;C/G missense_variant False KHDRBS1@p.R436T 1 0.32 ENSG00000121774 chr1:32042599-32042599;G/C missense_variant False KEL@p.E10Q 1 0.189473684 ENSG00000197993 chr7:142961848-142961848;C/G missense_variant False KEAP1@p.Y537Afs*12 1 0.242424242 ENSG00000079999 chr19:10489292-10489293;-/CA frameshift_variant False KEAP1@p.S45F 1 0.367088608 ENSG00000079999 chr19:10499900-10499900;G/A missense_variant False KEAP1@p.R116P 1 0.152777778 ENSG00000079999 chr19:10499687-10499687;C/G missense_variant False KEAP1@p.L471F 1 0.088235294 ENSG00000079999 chr19:10489768-10489768;G/A missense_variant False KEAP1@p.E25K 1 0.194174757 ENSG00000079999 chr19:10499961-10499961;C/T missense_variant False KERA@p.D290H 1 0.862745098 ENSG00000139330 chr12:91055414-91055414;C/G missense_variant False KERA@p.E88K 1 0.29787234 ENSG00000139330 chr12:91056020-91056020;C/T missense_variant False KERA@p.G227E 1 0.05785124 ENSG00000139330 chr12:91055602-91055602;C/T missense_variant False KERA@p.I5V 1 0.422535211 ENSG00000139330 chr12:91056269-91056269;T/C missense_variant False KERA@p.S300F 1 0.445945946 ENSG00000139330 chr12:91051506-91051506;G/A missense_variant False KHDC1@p.V216I 1 0.357798165 ENSG00000135314 chr6:73241597-73241597;C/T missense_variant False KHDC3L@p.S148L 1 0.161764706 ENSG00000203908 chr6:73363649-73363649;C/T missense_variant False KHDC4@p.A209T 1 0.368421053 ENSG00000132680 chr1:155926732-155926732;C/T missense_variant False KHDC4@p.S226L 1 0.298969072 ENSG00000132680 chr1:155926680-155926680;G/A missense_variant False KHDC4@p.S53L 1 0.314285714 ENSG00000132680 chr1:155933730-155933730;G/A missense_variant False KHDRBS1@p.E210K 1 0.32 ENSG00000121774 chr1:32033191-32033191;G/A missense_variant False KHDRBS1@p.G216V 1 0.280701754 ENSG00000121774 chr1:32033210-32033210;G/T missense_variant False KHDRBS1@p.L255V 1 0.298245614 ENSG00000121774 chr1:32033326-32033326;C/G missense_variant False KHDRBS1@p.L274F 1 0.12254902 ENSG00000121774 chr1:32036960-32036960;G/C missense_variant False KHDRBS1@p.P343A 1 0.117647059 ENSG00000121774 chr1:32037956-32037956;C/G missense_variant False KHDRBS1@p.P345A 1 0.081967213 ENSG00000121774 chr1:32037962-32037962;C/G missense_variant False KHDRBS1@p.R331Q 1 0.348314607 ENSG00000121774 chr1:32037921-32037921;G/A missense_variant False KIAA0100@p.S110Y 1 0.133333333 None chr17:28643231-28643231;G/T missense_variant False KIAA0100@p.S860F 1 0.307349666 None chr17:28635008-28635008;G/A missense_variant False KIAA0232@p.E1283K 1 0.112676056 ENSG00000170871 chr4:6871619-6871619;G/A missense_variant False KIAA0825@p.N236I 1 0.103448276 ENSG00000185261 chr5:94520511-94520511;T/A missense_variant False KIAA0930@p.S353L 1 0.139130435 ENSG00000100364 chr22:45197906-45197906;G/A missense_variant False KIAA0930@p.S137Y 1 0.340740741 ENSG00000100364 chr22:45205634-45205634;G/T missense_variant False KIAA0930@p.Q204K 1 0.292682927 ENSG00000100364 chr22:45203892-45203892;G/T missense_variant False KIAA0930@p.I158N 1 0.544444444 ENSG00000100364 chr22:45205260-45205260;A/T missense_variant False KIAA0895L@p.P55L 1 0.5 None chr16:67180447-67180447;G/A missense_variant False KIAA0895@p.R145C 1 0.192771084 None chr7:36357336-36357336;G/A missense_variant False KIAA0825@p.E55K 1 0.365853659 ENSG00000185261 chr5:94524067-94524067;C/T missense_variant False KIAA0753@p.L457F 1 0.672 ENSG00000198920 chr17:6612095-6612095;G/A missense_variant False KIAA0825@p.D163N 1 0.210526316 ENSG00000185261 chr5:94520731-94520731;C/T missense_variant False KIAA0753@p.R905H 1 0.20754717 ENSG00000198920 chr17:6589851-6589851;C/T missense_variant False KIAA0753@p.R533I 1 0.128440367 ENSG00000198920 chr17:6610108-6610108;C/A missense_variant False KIAA0753@p.R522K 1 0.161904762 ENSG00000198920 chr17:6610141-6610141;C/T missense_variant False KIAA0753@p.Q320E 1 0.28 ENSG00000198920 chr17:6623028-6623028;G/C missense_variant False KIAA0753@p.P721T 1 0.136363636 ENSG00000198920 chr17:6599248-6599248;G/T missense_variant False KIAA0930@p.T293Pfs*27 1 0.181818182 ENSG00000100364 chr22:45200012-45200012;G/- frameshift_variant False KIAA1109@p.D1390N 1 0.333333333 None chr4:122239850-122239850;G/A missense_variant False KIAA1109@p.D1871N 1 0.114285714 None chr4:122249583-122249583;G/A missense_variant False KIAA1109@p.D1948H 1 0.152941176 None chr4:122250493-122250493;G/C missense_variant False KIAA1109@p.D3500H 1 0.25 None chr4:122315647-122315647;G/C missense_variant False KIAA1109@p.D4472Y 1 0.392156863 None chr4:122349291-122349291;G/T missense_variant False KIAA1109@p.E1249K 1 0.493506494 None chr4:122238262-122238262;G/A missense_variant False KIAA1109@p.E1542K 1 0.266666667 None chr4:122240306-122240306;G/A missense_variant False KIAA1109@p.E2728K 1 0.215686275 None chr4:122271706-122271706;G/A missense_variant False KIAA1109@p.E308K 1 0.481481481 None chr4:122192249-122192249;G/A missense_variant False KIAA1109@p.E3548K 1 0.194029851 None chr4:122316834-122316834;G/A missense_variant False KIAA1109@p.E3798Q 1 0.214285714 None chr4:122331468-122331468;G/C missense_variant False KIAA1109@p.E4647Q 1 0.388888889 None chr4:122352993-122352993;G/C missense_variant False KIAA1109@p.E685Q 1 0.402777778 None chr4:122210901-122210901;G/C missense_variant False KIAA1109@p.E93K 1 0.340909091 None chr4:122174636-122174636;G/A missense_variant False KIAA1109@p.F2892L 1 0.209677419 None chr4:122279859-122279859;C/G missense_variant False KIAA1109@p.F898L 1 0.264705882 None chr4:122224578-122224578;C/G missense_variant False KIAA0753@p.M895I 1 0.454545455 ENSG00000198920 chr17:6589880-6589880;C/T missense_variant False KIAA0753@p.K136E 1 0.336956522 ENSG00000198920 chr17:6628429-6628429;T/C missense_variant False KIAA0232@p.G327W 1 0.5 ENSG00000170871 chr4:6861361-6861361;G/T missense_variant False KIAA0319@p.F195L 1 0.355555556 ENSG00000137261 chr6:24596091-24596091;A/G missense_variant False KIAA0319L@p.E1020K 1 0.476923077 ENSG00000142687 chr1:35434986-35434986;C/T missense_variant False KIAA0319L@p.D719N 1 0.093333333 ENSG00000142687 chr1:35450417-35450417;C/T missense_variant False KIAA0319L@p.D1010N 1 0.338983051 ENSG00000142687 chr1:35435016-35435016;C/T missense_variant False KIAA0319@p.V871Rfs*35 1 0.085106383 ENSG00000137261 chr6:24559134-24559137;TACA/- frameshift_variant False KIAA0319@p.K252T 1 0.187969925 ENSG00000137261 chr6:24595919-24595919;T/G missense_variant False KIAA0319@p.G654S 1 0.133333333 ENSG00000137261 chr6:24569934-24569934;C/T missense_variant False KIAA0232@p.S1182C 1 0.459459459 ENSG00000170871 chr4:6863927-6863927;C/G missense_variant False KIAA0586@p.L46F 1 0.265957447 ENSG00000100578 chr14:58428447-58428447;G/C missense_variant False KIAA0232@p.R368K 1 0.162601626 ENSG00000170871 chr4:6861485-6861485;G/A missense_variant False KIAA0232@p.Q872E 1 0.181818182 ENSG00000170871 chr4:6862996-6862996;C/G missense_variant False KIAA0232@p.M30I 1 0.293413174 ENSG00000170871 chr4:6824543-6824543;G/A missense_variant False KIAA0232@p.M108I 1 0.210526316 ENSG00000170871 chr4:6842159-6842159;G/A missense_variant False KIAA0232@p.L188V 1 0.350649351 ENSG00000170871 chr4:6860944-6860944;C/G missense_variant False KIAA0232@p.L1296V 1 0.166666667 ENSG00000170871 chr4:6871658-6871658;C/G missense_variant False KIAA0319L@p.E537Q 1 0.151515152 ENSG00000142687 chr1:35456060-35456060;C/G missense_variant False KIAA0319L@p.E757K 1 0.444444444 ENSG00000142687 chr1:35449951-35449951;C/T missense_variant False KIAA0319L@p.G257S 1 0.115384615 ENSG00000142687 chr1:35479110-35479110;C/T missense_variant False KIAA0319L@p.H747Y 1 0.10483871 ENSG00000142687 chr1:35449981-35449981;G/A missense_variant False KIAA0319L@p.I795M 1 0.067226891 ENSG00000142687 chr1:35448301-35448301;G/C missense_variant False KIAA0319L@p.S17L 1 0.397590361 ENSG00000142687 chr1:35554442-35554442;G/A missense_variant False KIAA0319L@p.S93C 1 0.192982456 ENSG00000142687 chr1:35507000-35507000;G/C missense_variant False KIAA0408@p.K41N 1 0.317073171 ENSG00000189367 chr6:127453859-127453859;C/A missense_variant False KIAA0408@p.N446K 1 0.142857143 ENSG00000189367 chr6:127446981-127446981;G/T missense_variant False KIAA0513@p.E46Q 1 0.241935484 ENSG00000135709 chr16:85067207-85067207;G/C missense_variant False KIAA0513@p.K223N 1 0.272727273 ENSG00000135709 chr16:85077519-85077519;G/T missense_variant False KIAA0513@p.N392S 1 0.217391304 ENSG00000135709 chr16:85087155-85087155;A/G missense_variant False KIAA0513@p.P61S 1 0.053571429 ENSG00000135709 chr16:85067252-85067252;C/T missense_variant False KIAA0513@p.T303S 1 0.476190476 ENSG00000135709 chr16:85081320-85081320;C/G missense_variant False KIAA0586@p.D1423H 1 0.444444444 ENSG00000100578 chr14:58508698-58508698;G/C missense_variant False KIAA0586@p.E1231K 1 0.102564103 ENSG00000100578 chr14:58488829-58488829;G/A missense_variant False KIAA0586@p.E870K 1 0.171428571 ENSG00000100578 chr14:58474625-58474625;G/A missense_variant False KEAP1@p.E244K 1 0.232876712 ENSG00000079999 chr19:10492172-10492172;C/T missense_variant False KEAP1@p.E218Q 1 0.181818182 ENSG00000079999 chr19:10492250-10492250;C/G missense_variant False KEAP1@p.D236N 1 0.426470588 ENSG00000079999 chr19:10492196-10492196;C/T missense_variant False KDM5B@p.R1534C 1 0.180555556 ENSG00000117139 chr1:202729071-202729071;G/A missense_variant False KDM5C@p.S1298C 1 0.761904762 ENSG00000126012 chrX:53194284-53194284;G/C missense_variant True KDM5C@p.L756I 1 0.118644068 ENSG00000126012 chrX:53198866-53198866;G/T missense_variant True KDM5C@p.K650N 1 0.236363636 ENSG00000126012 chrX:53201661-53201661;C/G missense_variant True KDM5C@p.D111N 1 0.161764706 ENSG00000126012 chrX:53218296-53218296;C/T missense_variant True KDM5B@p.V813L 1 0.1 ENSG00000117139 chr1:202742692-202742692;C/G missense_variant False KDM5B@p.S1324L 1 0.070588235 ENSG00000117139 chr1:202731878-202731878;G/A missense_variant False KDM5B@p.R125G 1 0.196261682 ENSG00000117139 chr1:202774645-202774645;T/C missense_variant False KDM5A@p.R52W 1 0.428571429 ENSG00000073614 chr12:388938-388938;G/A missense_variant False KDM5B@p.M482I 1 0.730263158 ENSG00000117139 chr1:202755363-202755363;C/T missense_variant False KDM5B@p.G947E 1 0.359223301 ENSG00000117139 chr1:202741472-202741472;C/T missense_variant False KDM5B@p.E246K 1 0.333333333 ENSG00000117139 chr1:202764121-202764121;C/T missense_variant False KDM5B@p.E1230D 1 0.283018868 ENSG00000117139 chr1:202733620-202733620;C/A missense_variant False KDM5B@p.D661N 1 0.235294118 ENSG00000117139 chr1:202748980-202748980;C/T missense_variant False KDM5A@p.S528C 1 0.323943662 ENSG00000073614 chr12:333557-333557;G/C missense_variant False KDM5D@p.D693N 1 0.826086957 ENSG00000012817 chrY:19715959-19715959;C/T missense_variant False KDM5D@p.E745K 1 0.86440678 ENSG00000012817 chrY:19715720-19715720;C/T missense_variant False KDM5D@p.K640N 1 0.945454545 ENSG00000012817 chrY:19716390-19716390;C/G missense_variant False KDM6A@p.A1328Lfs*28 1 0.634615385 ENSG00000147050 chrX:45107512-45107512;A/- frameshift_variant True KDM6A@p.A529Hfs*17 1 0.757575758 ENSG00000147050 chrX:45063475-45063481;AACAGCT/- frameshift_variant True KDM6A@p.A756Qfs*18 1 0.333333333 ENSG00000147050 chrX:45069920-45069920;G/- frameshift_variant True KDM6A@p.D1062* 1 0.657142857 ENSG00000147050 chrX:45082614-45082615;AG/- frameshift_variant True KDM6A@p.D1062Efs*2 1 0.281481481 ENSG00000147050 chrX:45082615-45082616;-/A frameshift_variant True KDM6A@p.D1360Tfs*8 1 0.6 ENSG00000147050 chrX:45110149-45110173;AAGATTGTGCACGAAAAACAAGCGG/- frameshift_variant True KDM6A@p.D348Gfs*16 1 0.647058824 ENSG00000147050 chrX:45059312-45059313;-/G frameshift_variant True KDM6A@p.E1024K 1 0.171428571 ENSG00000147050 chrX:45079277-45079277;G/A missense_variant True KDM6A@p.E1050Kfs*33 1 0.454545455 ENSG00000147050 chrX:45082579-45082579;G/- frameshift_variant True KDM6A@p.E1337K 1 0.734693878 ENSG00000147050 chrX:45110082-45110082;G/A missense_variant True KDM6A@p.E206Kfs*36 1 0.173553719 ENSG00000147050 chrX:45034982-45034982;G/- frameshift_variant True KDM6A@p.E315Q 1 0.833333333 ENSG00000147050 chrX:45059073-45059073;G/C missense_variant True KDM6A@p.E857K 1 0.18 ENSG00000147050 chrX:45070224-45070224;G/A missense_variant True KDM6A@p.G1116* 1 0.242424242 ENSG00000147050 chrX:45083518-45083557;GCAGGAAATCTTCTAAGCCATGTTGGTCATACCATATTGG/- frameshift_variant True KDM5A@p.S1319F 1 0.243589744 ENSG00000073614 chr12:307064-307064;G/A missense_variant False KDM5A@p.R1584K 1 0.048850575 ENSG00000073614 chr12:292874-292874;C/T missense_variant False KDM6A@p.G1215V 1 0.512820513 ENSG00000147050 chrX:45089838-45089838;G/T missense_variant True KDM4A@p.S457C 1 0.262295082 ENSG00000066135 chr1:43671511-43671511;C/G missense_variant False KDM4C@p.K306T 1 0.442622951 ENSG00000293552 chr9:6893228-6893228;A/C missense_variant False KDM4C@p.H42N 1 0.235772358 ENSG00000293552 chr9:6793112-6793112;C/A missense_variant False KDM4C@p.E631Q 1 0.212121212 ENSG00000293552 chr9:7011802-7011802;G/C missense_variant False KDM4B@p.T587Efs*12 1 0.115384615 ENSG00000127663 chr19:5131518-5131533;GACCAAAGCCCGGGCC/- frameshift_variant False KDM4B@p.S735C 1 0.24137931 ENSG00000127663 chr19:5135457-5135457;C/G missense_variant False KDM4A@p.Y726F 1 0.136904762 ENSG00000066135 chr1:43690984-43690984;A/T missense_variant False KDM4A@p.P68A 1 0.274509804 ENSG00000066135 chr1:43655654-43655654;C/G missense_variant False KDM5A@p.L432V 1 0.479452055 ENSG00000073614 chr12:350635-350635;G/C missense_variant False KDM4A@p.E1034K 1 0.337837838 ENSG00000066135 chr1:43704275-43704275;G/A missense_variant False KDM4A@p.E1032K 1 0.448484848 ENSG00000066135 chr1:43704269-43704269;G/A missense_variant False KDM4A@p.E1008K 1 0.116071429 ENSG00000066135 chr1:43704080-43704080;G/A missense_variant False KDM4A@p.D551H 1 0.122302158 ENSG00000066135 chr1:43671792-43671792;G/C missense_variant False KDM3B@p.R591Q 1 0.160714286 ENSG00000120733 chr5:138391404-138391404;G/A missense_variant False KDM3B@p.R365Tfs*6 1 0.419491525 ENSG00000120733 chr5:138386335-138386339;GGACT/- frameshift_variant False KDM4C@p.Q1053H 1 0.140776699 ENSG00000293552 chr9:7174717-7174717;G/C missense_variant False KDM4C@p.R1020T 1 0.707317073 ENSG00000293552 chr9:7174617-7174617;G/C missense_variant False KDM4C@p.R898T 1 0.225806452 ENSG00000293552 chr9:7128148-7128148;G/C missense_variant False KDM4C@p.S405L 1 0.8 ENSG00000293552 chr9:6984264-6984264;C/T missense_variant False KDM4D@p.E487K 1 0.297619048 ENSG00000186280 chr11:94998831-94998831;G/A missense_variant False KDM4D@p.Q442_I443delinsL 1 0.325301205 ENSG00000186280 chr11:94998697-94998699;AGA/- inframe_deletion False KDM5A@p.A351T 1 0.20754717 ENSG00000073614 chr12:352303-352303;C/T missense_variant False KDM5A@p.C1640Lfs*10 1 0.382113821 ENSG00000073614 chr12:285610-285611;-/A frameshift_variant False KDM5A@p.E1139K 1 0.108280255 ENSG00000073614 chr12:307969-307969;C/T missense_variant False KDM5A@p.E131Q 1 0.143410853 ENSG00000073614 chr12:366080-366080;C/G missense_variant False KDM5A@p.E193K 1 0.314606742 ENSG00000073614 chr12:363058-363058;C/T missense_variant False KDM5A@p.E516K 1 0.386075949 ENSG00000073614 chr12:333594-333594;C/T missense_variant False KDM5A@p.E944K 1 0.191082803 ENSG00000073614 chr12:318173-318173;C/T missense_variant False KDM5A@p.F480L 1 0.153333333 ENSG00000073614 chr12:334291-334291;A/C missense_variant False KDM5A@p.I492M 1 0.172413793 ENSG00000073614 chr12:334255-334255;G/C missense_variant False KDM5A@p.K1422N 1 0.127906977 ENSG00000073614 chr12:295762-295762;C/G missense_variant False KDM5A@p.L1233F 1 0.291666667 ENSG00000073614 chr12:307687-307687;G/A missense_variant False KDM6A@p.G1215A 1 0.954545455 ENSG00000147050 chrX:45089838-45089838;G/C missense_variant True KDM6A@p.G137R 1 0.8 ENSG00000147050 chrX:45010985-45010985;G/C missense_variant True KDSR@p.L61V 1 0.114285714 ENSG00000119537 chr18:63362796-63362796;G/C missense_variant False KDM6B@p.P747A 1 0.105263158 ENSG00000132510 chr17:7848527-7848527;C/G missense_variant False KDM7A@p.N558S 1 0.335526316 ENSG00000006459 chr7:140099989-140099989;T/C missense_variant False KDM7A@p.E879K 1 0.14893617 ENSG00000006459 chr7:140091900-140091900;C/T missense_variant False KDM7A@p.E385K 1 0.172839506 ENSG00000006459 chr7:140119206-140119206;C/T missense_variant False KDM7A@p.D166H 1 0.363636364 ENSG00000006459 chr7:140129556-140129556;C/G missense_variant False KDM6B@p.S864F 1 0.342857143 ENSG00000132510 chr17:7848879-7848879;C/T missense_variant False KDM6B@p.S864C 1 0.285714286 ENSG00000132510 chr17:7848879-7848879;C/G missense_variant False KDM6B@p.D1632G 1 0.285714286 ENSG00000132510 chr17:7853367-7853367;A/G missense_variant False KDM6A@p.T521Nfs*22 1 0.381818182 ENSG00000147050 chrX:45063456-45063472;CTGGAATTCCTAATGGG/A frameshift_variant True KDM6A@p.Y1135_M1136insN 1 0.125 ENSG00000147050 chrX:45083580-45083581;-/AAT inframe_insertion True KDM6A@p.W1239R 1 0.871794872 ENSG00000147050 chrX:45089909-45089909;T/C missense_variant True KDM6A@p.W1219C 1 0.130434783 ENSG00000147050 chrX:45089851-45089851;G/T missense_variant True KDM6A@p.V91Gfs*9 1 0.542857143 ENSG00000147050 chrX:44961330-44961330;T/- frameshift_variant True KDM6A@p.V550Gfs*3 1 0.671641791 ENSG00000147050 chrX:45063541-45063542;-/G frameshift_variant True KDM6A@p.V518Efs*26 1 0.30952381 ENSG00000147050 chrX:45063445-45063457;GGTACGATCTACT/- frameshift_variant True KDM7A@p.P349S 1 0.215686275 ENSG00000006459 chr7:140124627-140124627;G/A missense_variant False KDM7A@p.R496Q 1 0.386792453 ENSG00000006459 chr7:140102102-140102102;C/T missense_variant False KDM7A@p.S91Y 1 0.281690141 ENSG00000006459 chr7:140139113-140139113;G/T missense_variant False KDM8@p.A168T 1 0.58677686 ENSG00000155666 chr16:27213588-27213588;G/A missense_variant False KDM8@p.S260R 1 0.3125 ENSG00000155666 chr16:27214990-27214990;C/G missense_variant False KDR@p.E508K 1 0.068181818 ENSG00000128052 chr4:55106701-55106701;C/T missense_variant False KDR@p.E709Q 1 0.450980392 ENSG00000128052 chr4:55102371-55102371;C/G missense_variant False KDR@p.G95R 1 0.163636364 ENSG00000128052 chr4:55118679-55118679;C/T missense_variant False KDR@p.L1326F 1 0.171779141 ENSG00000128052 chr4:55080036-55080036;G/A missense_variant False KDR@p.L49V 1 0.325581395 ENSG00000128052 chr4:55121113-55121113;G/C missense_variant False KDR@p.L612W 1 0.554216867 ENSG00000128052 chr4:55104795-55104795;A/C missense_variant False KDR@p.L959V 1 0.16 ENSG00000128052 chr4:55094898-55094898;G/C missense_variant False KDR@p.R720Q 1 0.165289256 ENSG00000128052 chr4:55102004-55102004;C/T missense_variant False KDR@p.S1021L 1 0.103896104 ENSG00000128052 chr4:55092624-55092624;G/A missense_variant False KDR@p.S972L 1 0.289256198 ENSG00000128052 chr4:55094858-55094858;G/A missense_variant False KDR@p.Y224F 1 0.301587302 ENSG00000128052 chr4:55114253-55114253;T/A missense_variant False KDSR@p.F183L 1 0.285714286 ENSG00000119537 chr18:63350948-63350948;G/C missense_variant False KDM6A@p.V1169F 1 0.514285714 ENSG00000147050 chrX:45085936-45085936;G/T missense_variant True KDM6A@p.S985P 1 0.833333333 ENSG00000147050 chrX:45079160-45079160;T/C missense_variant True KDM6A@p.G137V 1 0.5 ENSG00000147050 chrX:45010986-45010986;G/T missense_variant True KDM6A@p.L1103P 1 0.925925926 ENSG00000147050 chrX:45083483-45083483;T/C missense_variant True KDM6A@p.L361P 1 0.757575758 ENSG00000147050 chrX:45059354-45059354;T/C missense_variant True KDM6A@p.L277Wfs*48 1 0.679245283 ENSG00000147050 chrX:45053909-45053909;T/- frameshift_variant True KDM6A@p.L277Pfs*49 1 0.542857143 ENSG00000147050 chrX:45053900-45053901;-/AA frameshift_variant True KDM6A@p.L1186M 1 0.555555556 ENSG00000147050 chrX:45089750-45089750;T/A missense_variant True KDM6A@p.L1186F 1 1.0 ENSG00000147050 chrX:45089752-45089752;G/C missense_variant True KDM6A@p.L1134P 1 0.68 ENSG00000147050 chrX:45083576-45083576;T/C missense_variant True KDM6A@p.L1098Ffs*5 1 0.392857143 ENSG00000147050 chrX:45083466-45083467;-/T frameshift_variant True KDM6A@p.S383Nfs*50 1 0.583333333 ENSG00000147050 chrX:45059420-45059438;GTTGTAGTAATACCTCTGC/- frameshift_variant True KDM6A@p.K70Wfs*11 1 0.315789474 ENSG00000147050 chrX:44873970-44873979;AAGGCCCTAC/- frameshift_variant True KDM6A@p.K1293* 1 0.128440367 ENSG00000147050 chrX:45090860-45090861;-/T frameshift_variant True KDM6A@p.H848Tfs*19 1 0.314285714 ENSG00000147050 chrX:45070197-45070197;C/- frameshift_variant True KDM6A@p.H733Rfs*23 1 0.416666667 ENSG00000147050 chrX:45069850-45069851;-/GC frameshift_variant True KDM6A@p.H698Y 1 0.395348837 ENSG00000147050 chrX:45069747-45069747;C/T missense_variant True KDM6A@p.H1124Yfs*7 1 0.444444444 ENSG00000147050 chrX:45083544-45083545;-/TA frameshift_variant True KDM6A@p.L533Tfs*20 1 0.421875 ENSG00000147050 chrX:45063489-45063490;-/A frameshift_variant True KDM6A@p.M176Lfs*5 1 0.692307692 ENSG00000147050 chrX:45020689-45020690;-/TT frameshift_variant True KDM6A@p.N386Ifs*53 1 0.3 ENSG00000147050 chrX:45059428-45059428;A/- frameshift_variant True KDM6A@p.N739Tfs*11 1 0.928571429 ENSG00000147050 chrX:45069870-45069871;-/C frameshift_variant True KDM6A@p.P471S 1 0.555555556 ENSG00000147050 chrX:45061405-45061405;C/T missense_variant True KDM6A@p.P527Rfs*23 1 0.571428571 ENSG00000147050 chrX:45063474-45063481;CAACAGCT/- frameshift_variant True KDM6A@p.P563Sfs*28 1 0.548387097 ENSG00000147050 chrX:45063579-45063585;GCCCTGG/- frameshift_variant True KDM6A@p.Q117Rfs*63 1 0.409090909 ENSG00000147050 chrX:44974679-44974679;C/- frameshift_variant True KDM6A@p.Q1359Tfs*26 1 0.679245283 ENSG00000147050 chrX:45110145-45110155;TGCCAAGATTG/- frameshift_variant True KDM6A@p.Q274Pfs*9 1 0.569767442 ENSG00000147050 chrX:45053898-45053899;-/C frameshift_variant True KDM6A@p.Q501K 1 0.846153846 ENSG00000147050 chrX:45062722-45062722;C/A missense_variant True KDM6A@p.Q753E 1 0.491803279 ENSG00000147050 chrX:45069912-45069912;C/G missense_variant True KDM6A@p.R1001* 1 0.4 ENSG00000147050 chrX:45079204-45079205;-/GT frameshift_variant True KDM6A@p.R519Q 1 0.344444444 ENSG00000147050 chrX:45063450-45063450;G/A missense_variant True KDM6A@p.R78Pfs*6 1 0.231884058 ENSG00000147050 chrX:44961291-44961291;G/- frameshift_variant True KDM6A@p.S1398Ifs*12 1 0.551724138 ENSG00000147050 chrX:45111393-45111394;-/C frameshift_variant True KDM6A@p.S283F 1 0.268292683 ENSG00000147050 chrX:45053928-45053928;C/T missense_variant True KIAA1109@p.I3073T 1 0.210526316 None chr4:122286721-122286721;T/C missense_variant False KIAA1109@p.L3157V 1 0.098591549 None chr4:122301380-122301380;C/G missense_variant False KIF21B@p.Q675H 1 0.189349112 ENSG00000116852 chr1:200998436-200998436;C/G missense_variant False KIF16B@p.S74L 1 0.171717172 ENSG00000089177 chr20:16526102-16526102;G/A missense_variant False KIF17@p.N985K 1 0.107692308 ENSG00000117245 chr1:20664719-20664719;G/T missense_variant False KIF17@p.M15I 1 0.4 ENSG00000117245 chr1:20717662-20717662;C/T missense_variant False KIF17@p.I188M 1 0.11827957 ENSG00000117245 chr1:20709745-20709745;G/C missense_variant False KIF17@p.I113M 1 0.204225352 ENSG00000117245 chr1:20715532-20715532;G/C missense_variant False KIF17@p.E579K 1 0.25 ENSG00000117245 chr1:20687591-20687591;C/T missense_variant False KIF17@p.E321Q 1 0.52 ENSG00000117245 chr1:20704609-20704609;C/G missense_variant False KIF16B@p.S657G 1 0.152 ENSG00000089177 chr20:16380033-16380033;T/C missense_variant False KIF17@p.R1017P 1 0.196969697 ENSG00000117245 chr1:20664624-20664624;C/G missense_variant False KIF16B@p.R907C 1 0.102564103 ENSG00000089177 chr20:16379283-16379283;G/A missense_variant False KIF16B@p.R52Q 1 0.330708661 ENSG00000089177 chr20:16526168-16526168;C/T missense_variant False KIF16B@p.R382K 1 0.401869159 ENSG00000089177 chr20:16504403-16504403;C/T missense_variant False KIF16B@p.Q1001H 1 0.096774194 ENSG00000089177 chr20:16378999-16378999;C/G missense_variant False KIF16B@p.L902R 1 0.534591195 ENSG00000089177 chr20:16379297-16379297;A/C missense_variant False KIF16B@p.K852E 1 0.105022831 ENSG00000089177 chr20:16379448-16379448;T/C missense_variant False KIF17@p.Q583H 1 0.285714286 ENSG00000117245 chr1:20687577-20687577;C/G missense_variant False KIF17@p.S530P 1 0.305555556 ENSG00000117245 chr1:20687738-20687738;A/G missense_variant False KIAA1109@p.M846I 1 0.5 None chr4:122220395-122220395;G/C missense_variant False KIF18A@p.K852N 1 0.120689655 ENSG00000121621 chr11:28023799-28023799;T/A missense_variant False KIF19@p.A853V 1 0.470588235 ENSG00000196169 chr17:74354411-74354411;C/T missense_variant False KIF18B@p.T220A 1 0.294117647 ENSG00000186185 chr17:44934536-44934536;T/C missense_variant False KIF18B@p.S504F 1 0.423423423 ENSG00000186185 chr17:44931608-44931608;G/A missense_variant False KIF18B@p.R503H 1 0.45 ENSG00000186185 chr17:44931611-44931611;C/T missense_variant False KIF18B@p.M767I 1 0.368421053 ENSG00000186185 chr17:44927054-44927054;C/T missense_variant False KIF18B@p.G124R 1 0.612244898 ENSG00000186185 chr17:44935360-44935360;C/T missense_variant False KIF18A@p.E495Q 1 0.358974359 ENSG00000121621 chr11:28069366-28069366;C/G missense_variant False KIF17@p.S955C 1 0.210526316 ENSG00000117245 chr1:20666261-20666261;G/C missense_variant False KIF18A@p.E202K 1 0.476190476 ENSG00000121621 chr11:28090712-28090712;C/T missense_variant False KIF18A@p.D77H 1 0.192307692 ENSG00000121621 chr11:28097719-28097719;C/G missense_variant False KIF18A@p.D506H 1 0.290697674 ENSG00000121621 chr11:28069333-28069333;C/G missense_variant False KIF18A@p.D405N 1 0.106382979 ENSG00000121621 chr11:28082905-28082905;C/T missense_variant False KIF18A@p.D182H 1 0.458333333 ENSG00000121621 chr11:28091453-28091453;C/G missense_variant False KIF17@p.V6G 1 0.5 ENSG00000117245 chr1:20717690-20717690;A/C missense_variant False KIF16B@p.E599K 1 0.169491525 ENSG00000089177 chr20:16381737-16381737;C/T missense_variant False KIF16B@p.E1213K 1 0.106382979 ENSG00000089177 chr20:16336000-16336000;C/T missense_variant False KIF16B@p.D160Efs*10 1 0.356321839 ENSG00000089177 chr20:16511494-16511495;-/TCTC frameshift_variant False KIF14@p.H414Y 1 0.671232877 ENSG00000118193 chr1:200615482-200615482;G/A missense_variant False KIF14@p.S157C 1 0.282352941 ENSG00000118193 chr1:200618254-200618254;G/C missense_variant False KIF14@p.S1091L 1 0.361702128 ENSG00000118193 chr1:200581264-200581264;G/A missense_variant False KIF14@p.R231T 1 0.851293103 ENSG00000118193 chr1:200618032-200618032;C/G missense_variant False KIF14@p.R1261T 1 0.288461538 ENSG00000118193 chr1:200565549-200565549;C/G missense_variant False KIF14@p.M674I 1 0.160377358 ENSG00000118193 chr1:200602026-200602026;C/G missense_variant False KIF14@p.L1530V 1 0.261363636 ENSG00000118193 chr1:200553747-200553747;G/C missense_variant False KIF14@p.H1017N 1 0.321428571 ENSG00000118193 chr1:200589282-200589282;G/T missense_variant False KIF15@p.V1344L 1 0.56 ENSG00000163808 chr3:44852265-44852265;G/C missense_variant False KIF14@p.E1438D 1 0.43902439 ENSG00000118193 chr1:200559369-200559369;T/G missense_variant False KIF14@p.E1259K 1 0.145454545 ENSG00000118193 chr1:200565556-200565556;C/T missense_variant False KIF14@p.C442F 1 0.131868132 ENSG00000118193 chr1:200615397-200615397;C/A missense_variant False KIF13B@p.R781L 1 0.204081633 ENSG00000197892 chr8:29140610-29140610;C/A missense_variant False KIF13B@p.P720T 1 0.208333333 ENSG00000197892 chr8:29146407-29146407;G/T missense_variant False KIF13B@p.N1404S 1 0.416666667 ENSG00000197892 chr8:29108143-29108143;T/C missense_variant False KIF14@p.S173C 1 0.318965517 ENSG00000118193 chr1:200618206-200618206;G/C missense_variant False KIF14@p.S346C 1 0.055555556 ENSG00000118193 chr1:200617687-200617687;G/C missense_variant False KIF14@p.S813F 1 0.305084746 ENSG00000118193 chr1:200598348-200598348;G/A missense_variant False KIF15@p.E1281Q 1 0.211711712 ENSG00000163808 chr3:44851821-44851821;G/C missense_variant False KIF15@p.E245Q 1 0.379310345 ENSG00000163808 chr3:44794310-44794310;G/C missense_variant False KIF15@p.E594Q 1 0.142857143 ENSG00000163808 chr3:44805119-44805119;G/C missense_variant False KIF15@p.E66Q 1 0.344262295 ENSG00000163808 chr3:44775387-44775387;G/C missense_variant False KIF15@p.E783Q 1 0.109375 ENSG00000163808 chr3:44813144-44813144;G/C missense_variant False KIF15@p.E858D 1 0.23255814 ENSG00000163808 chr3:44826063-44826063;G/C missense_variant False KIF15@p.E891Q 1 0.38028169 ENSG00000163808 chr3:44826160-44826160;G/C missense_variant False KIF15@p.E893K 1 0.082644628 ENSG00000163808 chr3:44826166-44826166;G/A missense_variant False KIF15@p.E911Q 1 0.384615385 ENSG00000163808 chr3:44826405-44826405;G/C missense_variant False KIF15@p.K1383N 1 0.470588235 ENSG00000163808 chr3:44852717-44852717;G/C missense_variant False KIF15@p.Q572H 1 0.192771084 ENSG00000163808 chr3:44805055-44805055;G/C missense_variant False KIF15@p.R1374C 1 0.466666667 ENSG00000163808 chr3:44852688-44852688;C/T missense_variant False KIF15@p.R977T 1 0.092592593 ENSG00000163808 chr3:44828287-44828287;G/C missense_variant False KIF15@p.V12L 1 0.25 ENSG00000163808 chr3:44774409-44774409;G/T missense_variant False KIF19@p.E630Kfs*45 1 0.333333333 ENSG00000196169 chr17:74352247-74352247;G/- frameshift_variant False KIF19@p.E852Q 1 0.25 ENSG00000196169 chr17:74354407-74354407;G/C missense_variant False KIF19@p.G412R 1 0.5 ENSG00000196169 chr17:74350421-74350421;G/A missense_variant False KIF20B@p.S999F 1 0.319672131 ENSG00000138182 chr10:89737837-89737837;C/T missense_variant False KIF21A@p.N339D 1 0.075268817 ENSG00000139116 chr12:39363102-39363102;T/C missense_variant False KIF21A@p.M777V 1 0.317241379 ENSG00000139116 chr12:39337185-39337185;T/C missense_variant False KIF21A@p.L833V 1 0.132075472 ENSG00000139116 chr12:39333098-39333098;G/C missense_variant False KIF21A@p.K134E 1 0.063157895 ENSG00000139116 chr12:39369779-39369779;T/C missense_variant False KIF21A@p.D180Y 1 0.25 ENSG00000139116 chr12:39367945-39367945;C/A missense_variant False KIF21A@p.A891S 1 0.192307692 ENSG00000139116 chr12:39332924-39332924;C/A missense_variant False KIF20B@p.S488C 1 0.272727273 ENSG00000138182 chr10:89719447-89719447;C/G missense_variant False KIF20A@p.V361A 1 0.349514563 ENSG00000112984 chr5:138183524-138183524;T/C missense_variant False KIF20B@p.S1690F 1 0.326086957 ENSG00000138182 chr10:89768369-89768369;C/T missense_variant False KIF20B@p.S1268F 1 0.326923077 ENSG00000138182 chr10:89738984-89738984;C/T missense_variant False KIF20B@p.Q1384R 1 0.109215017 ENSG00000138182 chr10:89751400-89751400;A/G missense_variant False KIF20B@p.N589H 1 0.494845361 ENSG00000138182 chr10:89724006-89724006;A/C missense_variant False KIF20B@p.H39Q 1 0.060240964 ENSG00000138182 chr10:89705411-89705411;T/G missense_variant False KIF20B@p.D1544Efs*5 1 0.142857143 ENSG00000138182 chr10:89758833-89758839;ATAATGA/- frameshift_variant False KIF21A@p.P140T 1 0.333333333 ENSG00000139116 chr12:39369761-39369761;G/T missense_variant False KIF21A@p.P1541Lfs*6 1 0.166666667 ENSG00000139116 chr12:39303074-39303074;G/- frameshift_variant False KIF21A@p.Q1338Sfs*5 1 0.25974026 ENSG00000139116 chr12:39311501-39311501;G/- frameshift_variant False KIF21A@p.Q460E 1 0.447761194 ENSG00000139116 chr12:39357275-39357275;G/C missense_variant False KIF21A@p.Q797H 1 0.712643678 ENSG00000139116 chr12:39337123-39337123;C/A missense_variant False KIF21A@p.R116G 1 0.204081633 ENSG00000139116 chr12:39369833-39369833;G/C missense_variant False KIF21A@p.R1423Q 1 0.441176471 ENSG00000139116 chr12:39309595-39309595;C/T missense_variant False KIF21A@p.R834C 1 0.333333333 ENSG00000139116 chr12:39333095-39333095;G/A missense_variant False KIF21A@p.S1298L 1 0.134453782 ENSG00000139116 chr12:39318088-39318088;G/A missense_variant False KIF21A@p.S296F 1 0.419354839 ENSG00000139116 chr12:39366366-39366366;G/A missense_variant False KIF21B@p.E580K 1 0.111940299 ENSG00000116852 chr1:200999912-200999912;C/T missense_variant False KIF21B@p.E983K 1 0.166666667 ENSG00000116852 chr1:200990221-200990221;C/T missense_variant False KIF21B@p.F1135L 1 0.15625 ENSG00000116852 chr1:200988299-200988299;G/C missense_variant False KIF21B@p.I174N 1 0.2 ENSG00000116852 chr1:201005621-201005621;A/T missense_variant False KIF21B@p.I650M 1 0.082352941 ENSG00000116852 chr1:200998511-200998511;G/C missense_variant False KIF21B@p.I992T 1 0.08 ENSG00000116852 chr1:200990193-200990193;A/G missense_variant False KIF21B@p.P349S 1 0.203389831 ENSG00000116852 chr1:201003753-201003753;G/A missense_variant False KIF20B@p.A1457S 1 0.476190476 ENSG00000138182 chr10:89754539-89754539;G/T missense_variant False KIF20A@p.L801P 1 0.369565217 ENSG00000112984 chr5:138187142-138187142;T/C missense_variant False KIF19@p.Q126H 1 0.315789474 ENSG00000196169 chr17:74343082-74343082;G/T missense_variant False KIF1A@p.P575L 1 0.333333333 ENSG00000130294 chr2:240765727-240765727;G/A missense_variant False KIF1A@p.S188C 1 0.508474576 ENSG00000130294 chr2:240786380-240786380;G/C missense_variant False KIF1A@p.R775Q 1 0.333333333 ENSG00000130294 chr2:240760758-240760758;C/T missense_variant False KIF1A@p.R423C 1 0.325396825 ENSG00000130294 chr2:240771018-240771018;G/A missense_variant False KIF1A@p.R380Q 1 0.214285714 ENSG00000130294 chr2:240773155-240773155;C/T missense_variant False KIF1A@p.R316Q 1 0.181818182 ENSG00000130294 chr2:240775862-240775862;C/T missense_variant False KIF1A@p.P865S 1 0.634146341 ENSG00000130294 chr2:240750510-240750510;G/A missense_variant False KIF1A@p.K442T 1 0.8 ENSG00000130294 chr2:240769696-240769696;T/G missense_variant False KIF20A@p.E747K 1 0.293333333 ENSG00000112984 chr5:138186315-138186315;G/A missense_variant False KIF1A@p.D125G 1 0.414634146 ENSG00000130294 chr2:240787306-240787306;T/C missense_variant False KIF1A@p.A445G 1 0.225 ENSG00000130294 chr2:240769687-240769687;G/C missense_variant False KIF1A@p.A433V 1 0.818181818 ENSG00000130294 chr2:240770987-240770987;G/A missense_variant False KIF19@p.S808Gfs*26 1 0.15625 ENSG00000196169 chr17:74354269-74354297;GAGCGCAGCAGCCTGTCCCTGCACTCACT/- frameshift_variant False KIF19@p.R791W 1 0.123287671 ENSG00000196169 chr17:74354224-74354224;C/T missense_variant False KIF19@p.R172L 1 0.189189189 ENSG00000196169 chr17:74344281-74344281;G/T missense_variant False KIF1A@p.T612M 1 0.352941176 ENSG00000130294 chr2:240763253-240763253;G/A missense_variant False KIF1B@p.D302H 1 0.314285714 ENSG00000054523 chr1:10275449-10275449;G/C missense_variant False KIF1B@p.E1018D 1 0.240860215 ENSG00000054523 chr1:10336667-10336667;A/T missense_variant False KIF1B@p.E1685K 1 0.444444444 ENSG00000054523 chr1:10374422-10374422;G/A missense_variant False KIF1B@p.E239K 1 0.303030303 ENSG00000054523 chr1:10268258-10268258;G/A missense_variant False KIF1B@p.E645Q 1 0.195402299 ENSG00000054523 chr1:10296968-10296968;G/C missense_variant False KIF1B@p.E655K 1 0.115942029 ENSG00000054523 chr1:10296998-10296998;G/A missense_variant False KIF1B@p.F887L 1 0.240310078 ENSG00000054523 chr1:10324881-10324881;C/G missense_variant False KIF1B@p.G554E 1 0.125 ENSG00000054523 chr1:10295156-10295156;G/A missense_variant False KIF1B@p.K1097N 1 0.153465347 ENSG00000054523 chr1:10337402-10337402;G/C missense_variant False KIF1B@p.P532A 1 0.146067416 ENSG00000054523 chr1:10295089-10295089;C/G missense_variant False KIF1B@p.Q70E 1 0.076923077 ENSG00000054523 chr1:10258517-10258517;C/G missense_variant False KIF1B@p.R1515C 1 0.302325581 ENSG00000054523 chr1:10365439-10365439;C/T missense_variant False KIF1C@p.G480R 1 0.175847458 ENSG00000129250 chr17:5007489-5007489;G/A missense_variant False KIF1C@p.P914L 1 0.5 ENSG00000129250 chr17:5023580-5023580;C/T missense_variant False KIF1C@p.S131Mfs*14 1 0.191176471 ENSG00000129250 chr17:5002087-5002087;G/- frameshift_variant False KIF1C@p.S165C 1 0.692307692 ENSG00000129250 chr17:5002528-5002528;C/G missense_variant False KIF13B@p.I1380M 1 0.870967742 ENSG00000197892 chr8:29109455-29109455;G/C missense_variant False KIF13B@p.E936K 1 0.482758621 ENSG00000197892 chr8:29132444-29132444;C/T missense_variant False KIF13B@p.E376Q 1 0.444444444 ENSG00000197892 chr8:29167405-29167405;C/G missense_variant False KIAA1522@p.R156W 1 0.119047619 ENSG00000162522 chr1:32769729-32769729;C/T missense_variant False KIAA1522@p.V500L 1 0.2 ENSG00000162522 chr1:32770854-32770854;G/T missense_variant False KIAA1522@p.S639F 1 0.268292683 ENSG00000162522 chr1:32771272-32771272;C/T missense_variant False KIAA1522@p.S379F 1 0.166666667 ENSG00000162522 chr1:32770492-32770492;C/T missense_variant False KIAA1522@p.S293L 1 0.516129032 ENSG00000162522 chr1:32770234-32770234;C/T missense_variant False KIAA1522@p.R509Gfs*84 1 0.175 ENSG00000162522 chr1:32770879-32770879;C/- frameshift_variant False KIAA1522@p.R160G 1 0.266666667 ENSG00000162522 chr1:32769741-32769741;C/G missense_variant False KIAA1522@p.P780S 1 0.260869565 ENSG00000162522 chr1:32771694-32771694;C/T missense_variant False KIAA1217@p.P364Qfs*5 1 0.255208333 ENSG00000120549 chr10:24473470-24473470;C/- frameshift_variant False KIAA1522@p.P780L 1 0.085714286 ENSG00000162522 chr1:32771695-32771695;C/T missense_variant False KIAA1522@p.H604Y 1 0.376811594 ENSG00000162522 chr1:32771166-32771166;C/T missense_variant False KIAA1522@p.D457H 1 0.279069767 ENSG00000162522 chr1:32770725-32770725;G/C missense_variant False KIAA1522@p.D193N 1 0.323529412 ENSG00000162522 chr1:32769933-32769933;G/A missense_variant False KIAA1328@p.P435A 1 0.206896552 ENSG00000150477 chr18:37160270-37160270;C/G missense_variant False KIAA1328@p.K463N 1 0.465116279 ENSG00000150477 chr18:37160356-37160356;G/C missense_variant False KIAA1549@p.A1197V 1 0.222222222 ENSG00000122778 chr7:138903667-138903667;G/A missense_variant False KIAA1549@p.R1797T 1 0.153846154 ENSG00000122778 chr7:138844379-138844379;C/G missense_variant False KIAA1549@p.R713C 1 0.343283582 ENSG00000122778 chr7:138917489-138917489;G/A missense_variant False KIAA1549@p.S114C 1 0.496 ENSG00000122778 chr7:138919285-138919285;G/C missense_variant False KIAA1549@p.S675F 1 0.358490566 ENSG00000122778 chr7:138917602-138917602;G/A missense_variant False KIAA1549@p.V455M 1 0.157894737 ENSG00000122778 chr7:138918263-138918263;C/T missense_variant False KIAA1549L@p.P327L 1 0.647058824 ENSG00000110427 chr11:33543434-33543434;C/T missense_variant False KIAA1549L@p.S1301L 1 0.5 ENSG00000110427 chr11:33598861-33598861;C/T missense_variant False KIAA1549L@p.S1529C 1 0.173913043 ENSG00000110427 chr11:33645753-33645753;C/G missense_variant False KIAA1586@p.D632H 1 0.322580645 ENSG00000168116 chr6:57054393-57054393;G/C missense_variant False KIAA1586@p.G160V 1 0.478873239 ENSG00000168116 chr6:57052978-57052978;G/T missense_variant False KIAA1586@p.L43V 1 0.791044776 ENSG00000168116 chr6:57050795-57050795;C/G missense_variant False KIAA1586@p.Y664C 1 0.172413793 ENSG00000168116 chr6:57054490-57054490;A/G missense_variant False KIAA1614@p.E178K 1 0.114583333 ENSG00000135835 chr1:180916635-180916635;G/A missense_variant False KIAA1614@p.E756K 1 0.464285714 ENSG00000135835 chr1:180936175-180936175;G/A missense_variant False KIAA1614@p.K93del 1 0.3125 ENSG00000135835 chr1:180916378-180916380;AGA/- inframe_deletion False KIAA1614@p.L208F 1 0.1171875 ENSG00000135835 chr1:180916727-180916727;G/T missense_variant False KIAA1217@p.Y1605S 1 0.338461538 ENSG00000120549 chr10:24544084-24544084;A/C missense_variant False KIAA1217@p.G54A 1 0.15625 ENSG00000120549 chr10:24219716-24219716;G/C missense_variant False KIAA1614@p.P1056T 1 0.181818182 ENSG00000135835 chr1:180944395-180944395;C/A missense_variant False KIAA1109@p.S1233L 1 0.25 None chr4:122238215-122238215;C/T missense_variant False KIAA1210@p.F1139I 1 0.917647059 ENSG00000250423 chrX:119087815-119087815;A/T missense_variant False KIAA1210@p.E438Q 1 0.864864865 ENSG00000250423 chrX:119094051-119094051;C/G missense_variant False KIAA1191@p.L67F 1 0.13963964 ENSG00000122203 chr5:176355579-176355579;G/A missense_variant False KIAA1143@p.A16S 1 0.097560976 ENSG00000163807 chr3:44761557-44761557;C/A missense_variant False KIAA1109@p.V2348L 1 0.1484375 None chr4:122263501-122263501;G/T missense_variant False KIAA1109@p.S3621C 1 0.391304348 None chr4:122324494-122324494;C/G missense_variant False KIAA1109@p.S1230F 1 0.416666667 None chr4:122238206-122238206;C/T missense_variant False KIAA1217@p.E710K 1 0.134615385 ENSG00000120549 chr10:24513385-24513385;G/A missense_variant False KIAA1109@p.R806H 1 0.15625 None chr4:122219509-122219509;G/A missense_variant False KIAA1109@p.R1524K 1 0.281818182 None chr4:122240253-122240253;G/A missense_variant False KIAA1109@p.R1019Q 1 0.5 None chr4:122229944-122229944;G/A missense_variant False KIAA1109@p.Q4104H 1 0.28358209 None chr4:122339368-122339368;G/C missense_variant False KIAA1109@p.Q3933H 1 0.231707317 None chr4:122334496-122334496;G/C missense_variant False KIAA1109@p.Q1294E 1 0.358208955 None chr4:122239562-122239562;C/G missense_variant False KIAA1210@p.M617T 1 0.5 ENSG00000250423 chrX:119089380-119089380;A/G missense_variant False KIAA1210@p.M695T 1 0.526315789 ENSG00000250423 chrX:119089146-119089146;A/G missense_variant False KIAA1210@p.P1425R 1 0.472727273 ENSG00000250423 chrX:119086956-119086956;G/C missense_variant False KIAA1210@p.S1536P 1 0.771428571 ENSG00000250423 chrX:119086624-119086624;A/G missense_variant False KIAA1210@p.S203C 1 0.368421053 ENSG00000250423 chrX:119116538-119116538;G/C missense_variant False KIAA1210@p.S709T 1 0.285714286 ENSG00000250423 chrX:119089104-119089104;C/G missense_variant False KIAA1210@p.T751A 1 0.72972973 ENSG00000250423 chrX:119088979-119088979;T/C missense_variant False KIAA1217@p.D1131G 1 0.108695652 ENSG00000120549 chr10:24533215-24533215;A/G missense_variant False KIAA1217@p.D135H 1 0.2 ENSG00000120549 chr10:24380917-24380917;G/C missense_variant False KIAA1217@p.D1430N 1 0.113636364 ENSG00000120549 chr10:24543558-24543558;G/A missense_variant False KIAA1217@p.D1452N 1 0.484536082 ENSG00000120549 chr10:24543624-24543624;G/A missense_variant False KIAA1217@p.D1698N 1 0.166666667 ENSG00000120549 chr10:24544362-24544362;G/A missense_variant False KIAA1217@p.D378N 1 0.038095238 ENSG00000120549 chr10:24473513-24473513;G/A missense_variant False KIAA1217@p.E1034K 1 0.259259259 ENSG00000120549 chr10:24531847-24531847;G/A missense_variant False KIAA1217@p.E153Q 1 0.53125 ENSG00000120549 chr10:24380971-24380971;G/C missense_variant False KIAA1217@p.E1559K 1 0.317460317 ENSG00000120549 chr10:24543945-24543945;G/A missense_variant False KIAA1217@p.E443K 1 0.408450704 ENSG00000120549 chr10:24473708-24473708;G/A missense_variant False KIAA1614@p.L589F 1 0.424242424 ENSG00000135835 chr1:180935674-180935674;C/T missense_variant False KIAA1614@p.R646Q 1 0.375 ENSG00000135835 chr1:180935846-180935846;G/A missense_variant False KIF13A@p.V1366I 1 0.102564103 ENSG00000137177 chr6:17777351-17777351;C/T missense_variant False KIDINS220@p.Q1172E 1 0.188679245 ENSG00000134313 chr2:8747901-8747901;G/C missense_variant False KIF11@p.G73E 1 0.272727273 ENSG00000138160 chr10:92606626-92606626;G/A missense_variant False KIF11@p.D802N 1 0.166666667 ENSG00000138160 chr10:92645499-92645499;G/A missense_variant False KIF11@p.D279N 1 0.220588235 ENSG00000138160 chr10:92613422-92613422;G/A missense_variant False KIDINS220@p.V87L 1 0.398230088 ENSG00000134313 chr2:8817665-8817665;C/A missense_variant False KIDINS220@p.S796L 1 0.489361702 ENSG00000134313 chr2:8779123-8779123;G/A missense_variant False KIDINS220@p.S1117L 1 0.966666667 ENSG00000134313 chr2:8750176-8750176;G/A missense_variant False KIDINS220@p.L504F 1 0.231578947 ENSG00000134313 chr2:8789991-8789991;G/A missense_variant False KIDINS220@p.D760Efs*16 1 0.32 ENSG00000134313 chr2:8779751-8779764;TCTGAGTGAAGCTG/- frameshift_variant False KIDINS220@p.L1363F 1 0.372727273 ENSG00000134313 chr2:8731949-8731949;G/A missense_variant False KIDINS220@p.I934M 1 0.489361702 ENSG00000134313 chr2:8776794-8776794;G/C missense_variant False KIDINS220@p.G368V 1 0.229508197 ENSG00000134313 chr2:8793983-8793983;C/A missense_variant False KIDINS220@p.E1727D 1 0.398148148 ENSG00000134313 chr2:8730855-8730855;C/G missense_variant False KIDINS220@p.E1481A 1 0.32 ENSG00000134313 chr2:8731594-8731594;T/G missense_variant False KIDINS220@p.E1258Q 1 0.294117647 ENSG00000134313 chr2:8734699-8734699;C/G missense_variant False KIF11@p.L172V 1 0.190909091 ENSG00000138160 chr10:92609146-92609146;C/G missense_variant False KIF11@p.S835C 1 0.390243902 ENSG00000138160 chr10:92645599-92645599;C/G missense_variant False KIF12@p.P316L 1 0.8125 ENSG00000136883 chr9:114095281-114095281;G/A missense_variant False KIF12@p.Q379H 1 0.735294118 ENSG00000136883 chr9:114094438-114094438;C/G missense_variant False KIF12@p.Q615H 1 0.5 ENSG00000136883 chr9:114091972-114091972;C/G missense_variant False KIF13A@p.D1077H 1 0.314285714 ENSG00000137177 chr6:17789904-17789904;C/G missense_variant False KIF13A@p.E1370Q 1 0.380952381 ENSG00000137177 chr6:17777339-17777339;C/G missense_variant False KIF13A@p.E1687K 1 0.095890411 ENSG00000137177 chr6:17764469-17764469;C/T missense_variant False KIF13A@p.E202K 1 0.4 ENSG00000137177 chr6:17850436-17850436;C/T missense_variant False KIF13A@p.E697K 1 0.393939394 ENSG00000137177 chr6:17808842-17808842;C/T missense_variant False KIF13A@p.E845D 1 0.346820809 ENSG00000137177 chr6:17800033-17800033;C/G missense_variant False KIF13A@p.I1307L 1 0.111111111 ENSG00000137177 chr6:17779612-17779612;T/G missense_variant False KIF13A@p.K1375E 1 0.234042553 ENSG00000137177 chr6:17777324-17777324;T/C missense_variant False KIF13A@p.P1215L 1 0.450980392 ENSG00000137177 chr6:17781202-17781202;G/A missense_variant False KIF13A@p.P39R 1 0.061797753 ENSG00000137177 chr6:17987084-17987084;G/C missense_variant False KIF13A@p.Q1498E 1 0.321428571 ENSG00000137177 chr6:17771203-17771203;G/C missense_variant False KIF13A@p.S134C 1 0.233333333 ENSG00000137177 chr6:17855530-17855530;G/C missense_variant False KIDINS220@p.E1020K 1 0.121621622 ENSG00000134313 chr2:8751598-8751598;C/T missense_variant False KIDINS220@p.D441G 1 0.5 ENSG00000134313 chr2:8791179-8791179;T/C missense_variant False KIAA1614@p.V970M 1 0.35483871 ENSG00000135835 chr1:180938701-180938701;G/A missense_variant False KIAA1841@p.E371K 1 0.590909091 None chr2:61092486-61092486;G/A missense_variant False KIAA2013@p.A409T 1 0.106382979 ENSG00000116685 chr1:11923298-11923298;C/T missense_variant False KIAA1958@p.D486E 1 0.196428571 ENSG00000165185 chr9:112659376-112659376;C/G missense_variant False KIAA1958@p.C546Y 1 0.170731707 ENSG00000165185 chr9:112659555-112659555;G/A missense_variant False KIAA1841@p.M661I 1 0.32 None chr2:61118071-61118071;G/C missense_variant False KIAA1841@p.L272V 1 0.308510638 None chr2:61083238-61083238;C/G missense_variant False KIAA1841@p.I516M 1 0.292682927 None chr2:61106599-61106599;A/G missense_variant False KIAA1841@p.D631N 1 0.213483146 None chr2:61117492-61117492;G/A missense_variant False KIDINS220@p.D1213Y 1 0.641509434 ENSG00000134313 chr2:8736948-8736948;C/A missense_variant False KIAA1755@p.T179S 1 0.131147541 ENSG00000149633 chr20:38241596-38241596;T/A missense_variant False KIAA1755@p.Q641L 1 0.186666667 ENSG00000149633 chr20:38228190-38228190;T/A missense_variant False KIAA1755@p.Q31E 1 0.216666667 ENSG00000149633 chr20:38246039-38246039;G/C missense_variant False KIAA1755@p.K180N 1 0.064 ENSG00000149633 chr20:38241591-38241591;C/G missense_variant False KIAA1755@p.G515R 1 0.110169492 ENSG00000149633 chr20:38240588-38240588;C/T missense_variant False KIAA1755@p.A397S 1 0.333333333 ENSG00000149633 chr20:38240942-38240942;C/A missense_variant False KIAA2013@p.F610L 1 0.166666667 ENSG00000116685 chr1:11922693-11922693;G/C missense_variant False KIAA2013@p.P414S 1 0.107142857 ENSG00000116685 chr1:11923283-11923283;G/A missense_variant False KIAA2026@p.C168F 1 0.620689655 ENSG00000183354 chr9:6007285-6007285;C/A missense_variant False KIAA2026@p.E144D 1 0.267857143 ENSG00000183354 chr9:6007356-6007356;C/G missense_variant False KIAA2026@p.E190Q 1 0.337078652 ENSG00000183354 chr9:6007220-6007220;C/G missense_variant False KIAA2026@p.E395K 1 0.2 ENSG00000183354 chr9:5969048-5969048;C/T missense_variant False KIAA2026@p.E570K 1 0.5 ENSG00000183354 chr9:5968523-5968523;C/T missense_variant False KIAA2026@p.G173A 1 0.152542373 ENSG00000183354 chr9:6007270-6007270;C/G missense_variant False KIAA2026@p.G608C 1 0.157894737 ENSG00000183354 chr9:5968409-5968409;C/A missense_variant False KIAA2026@p.G646V 1 0.244897959 ENSG00000183354 chr9:5968294-5968294;C/A missense_variant False KIAA2026@p.L1925V 1 0.353982301 ENSG00000183354 chr9:5920223-5920223;G/C missense_variant False KIAA2026@p.L200F 1 0.176470588 ENSG00000183354 chr9:5988539-5988539;C/G missense_variant False KIAA2026@p.L252F 1 0.128205128 ENSG00000183354 chr9:5988383-5988383;C/G missense_variant False KIAA2026@p.P607S 1 0.07 ENSG00000183354 chr9:5968412-5968412;G/A missense_variant False KIAA2026@p.Q486H 1 0.338235294 ENSG00000183354 chr9:5968773-5968773;C/A missense_variant False KIAA2026@p.R854T 1 0.24691358 ENSG00000183354 chr9:5924783-5924783;C/G missense_variant False KIAA2026@p.T1342A 1 0.42962963 ENSG00000183354 chr9:5921972-5921972;T/C missense_variant False ITGB3@p.R648Q 1 0.225 ENSG00000259207 chr17:47300507-47300507;G/A missense_variant False ITGB3@p.R386C 1 0.45 ENSG00000259207 chr17:47290984-47290984;C/T missense_variant False HOXB5@p.S73L 1 0.21875 ENSG00000120075 chr17:48593465-48593465;G/A missense_variant False IFIT1@p.L344P 1 0.285714286 ENSG00000185745 chr10:89403306-89403306;T/C missense_variant False IFIT3@p.D334N 1 0.294117647 ENSG00000119917 chr10:89339655-89339655;G/A missense_variant False IFIT2@p.V38Yfs*23 1 0.457142857 ENSG00000119922 chr10:89306065-89306065;A/- frameshift_variant False IFIT2@p.H220Y 1 0.114754098 ENSG00000119922 chr10:89306614-89306614;C/T missense_variant False IFIT2@p.D327N 1 0.102941176 ENSG00000119922 chr10:89306935-89306935;G/A missense_variant False IFIT1B@p.G236V 1 0.046296296 ENSG00000204010 chr10:89384020-89384020;G/T missense_variant False IFIT1@p.R462W 1 0.314814815 ENSG00000185745 chr10:89403659-89403659;C/T missense_variant False IFIT1@p.E272V 1 0.666666667 ENSG00000185745 chr10:89403090-89403090;A/T missense_variant False IFIT5@p.E111K 1 0.164179104 ENSG00000152778 chr10:89417530-89417530;G/A missense_variant False IFIH1@p.Y5Gfs*19 1 0.207792208 ENSG00000115267 chr2:162318295-162318296;-/CC frameshift_variant False IFIH1@p.Q317H 1 0.263565891 ENSG00000115267 chr2:162288279-162288279;C/G missense_variant False IFIH1@p.L809F 1 0.057377049 ENSG00000115267 chr2:162273824-162273824;G/A missense_variant False IFIH1@p.I518V 1 0.724137931 ENSG00000115267 chr2:162280085-162280085;T/C missense_variant False IFIH1@p.E534Q 1 0.415384615 ENSG00000115267 chr2:162280037-162280037;C/G missense_variant False IFIH1@p.D526Y 1 0.44 ENSG00000115267 chr2:162280061-162280061;C/A missense_variant False IFIT3@p.E356K 1 0.409090909 ENSG00000119917 chr10:89339721-89339721;G/A missense_variant False IFIT5@p.L221V 1 0.8 ENSG00000152778 chr10:89417860-89417860;C/G missense_variant False IFT80@p.G374V 1 0.204545455 ENSG00000068885 chr3:160303945-160303945;C/A missense_variant False IFNA16@p.S176C 1 0.382352941 ENSG00000147885 chr9:21216779-21216779;G/C missense_variant False IFNA4@p.L38F 1 0.045751634 ENSG00000236637 chr9:21187418-21187418;C/G missense_variant False IFNA4@p.E65Q 1 0.054421769 ENSG00000236637 chr9:21187339-21187339;C/G missense_variant False IFNA2@p.L49F 1 0.277777778 ENSG00000188379 chr9:21385185-21385185;G/A missense_variant False IFNA21@p.I77M 1 0.821428571 ENSG00000137080 chr9:21166382-21166382;G/C missense_variant False IFNA1@p.R184T 1 0.361386139 ENSG00000233816 chr9:21441058-21441058;G/C missense_variant False IFNA17@p.S96L 1 0.185 ENSG00000234829 chr9:21227887-21227887;G/A missense_variant False IFNA16@p.Q148E 1 0.337278107 ENSG00000147885 chr9:21216864-21216864;G/C missense_variant False IFIT5@p.R366H 1 0.714285714 ENSG00000152778 chr10:89418296-89418296;G/A missense_variant False IFNA14@p.S139F 1 0.189274448 ENSG00000228083 chr9:21239520-21239520;G/A missense_variant False IFNA10@p.S174C 1 0.342182891 ENSG00000186803 chr9:21206577-21206577;G/C missense_variant False IFNA10@p.L152V 1 0.746355685 ENSG00000186803 chr9:21206644-21206644;G/C missense_variant False IFITM5@p.L49V 1 0.466666667 ENSG00000206013 chr11:299346-299346;G/C missense_variant False IFIT5@p.V251I 1 0.607142857 ENSG00000152778 chr10:89417950-89417950;G/A missense_variant False IFIT5@p.S49F 1 0.767857143 ENSG00000152778 chr10:89417345-89417345;C/T missense_variant False IFI44L@p.S246F 1 0.302631579 ENSG00000137959 chr1:78635350-78635350;C/T missense_variant False IFI44L@p.M335Nfs*25 1 0.25 ENSG00000137959 chr1:78637154-78637155;-/A frameshift_variant False IFI44L@p.L372Ffs*5 1 0.344537815 ENSG00000137959 chr1:78641082-78641083;-/T frameshift_variant False IDS@p.E163Q 1 0.111111111 ENSG00000241489 chrX:149500969-149500969;C/G missense_variant False IFI16@p.A79P 1 0.348314607 ENSG00000163565 chr1:159014915-159014915;G/C missense_variant False IER5@p.Q248P 1 0.130434783 ENSG00000162783 chr1:181089645-181089645;A/C missense_variant False IER2@p.H20Y 1 0.384615385 ENSG00000160888 chr19:13153244-13153244;C/T missense_variant False IER2@p.E58K 1 0.45 ENSG00000160888 chr19:13153358-13153358;G/A missense_variant False IDUA@p.S633L 1 0.448979592 ENSG00000127415 chr4:1004329-1004329;C/T missense_variant False IDS@p.E27K 1 0.382978723 ENSG00000241489 chrX:149505059-149505059;C/T missense_variant False IDO2@p.F307L 1 0.396226415 ENSG00000188676 chr8:40015299-40015299;C/A missense_variant False IFI44L@p.L312V 1 0.170305677 ENSG00000137959 chr1:78637089-78637089;C/G missense_variant False IDO1@p.R317C 1 0.545454545 ENSG00000131203 chr8:39927922-39927922;C/T missense_variant False IDO1@p.I17M 1 0.533333333 ENSG00000131203 chr8:39913973-39913973;T/G missense_variant False IDO1@p.F164L 1 0.285714286 ENSG00000131203 chr8:39922606-39922606;C/G missense_variant False IDO1@p.D149E 1 0.266666667 ENSG00000131203 chr8:39922561-39922561;C/A missense_variant False IDI2@p.Y80C 1 0.38 ENSG00000148377 chr10:1020894-1020894;T/C missense_variant False IDI2@p.E26K 1 0.202702703 ENSG00000148377 chr10:1024648-1024648;C/T missense_variant False IFI16@p.E121Q 1 0.270072993 ENSG00000163565 chr1:159015967-159015967;G/C missense_variant False IFI16@p.E479K 1 0.142259414 ENSG00000163565 chr1:159045402-159045402;G/A missense_variant False IFI16@p.E85Q 1 0.257575758 ENSG00000163565 chr1:159014933-159014933;G/C missense_variant False IFI16@p.G13V 1 0.25974026 ENSG00000163565 chr1:159014718-159014718;G/T missense_variant False IFI16@p.K390Q 1 0.090909091 ENSG00000163565 chr1:159032530-159032530;A/C missense_variant False IFI16@p.L82V 1 0.075757576 ENSG00000163565 chr1:159014924-159014924;C/G missense_variant False IFI16@p.Q150H 1 0.108695652 ENSG00000163565 chr1:159016601-159016601;G/T missense_variant False IFI16@p.Q486H 1 0.183908046 ENSG00000163565 chr1:159045425-159045425;G/C missense_variant False IFI16@p.R340T 1 0.357142857 ENSG00000163565 chr1:159020387-159020387;G/C missense_variant False IFI27L2@p.A25V 1 0.482758621 ENSG00000119632 chr14:94128639-94128639;G/A missense_variant False IFI35@p.F255L 1 0.141304348 ENSG00000068079 chr17:43014203-43014203;C/A missense_variant False IFI44@p.A337T 1 0.423076923 ENSG00000137965 chr1:78659480-78659480;G/A missense_variant False IFI44@p.A409T 1 0.522727273 ENSG00000137965 chr1:78662815-78662815;G/A missense_variant False IFI44@p.E147Q 1 0.196078431 ENSG00000137965 chr1:78650634-78650634;G/C missense_variant False IFI44@p.Q144K 1 0.72972973 ENSG00000137965 chr1:78650625-78650625;C/A missense_variant False IFI44L@p.D249Y 1 0.455882353 ENSG00000137959 chr1:78635358-78635358;G/T missense_variant False IFI44L@p.E445K 1 0.270408163 ENSG00000137959 chr1:78641783-78641783;G/A missense_variant False IFNA4@p.S178L 1 0.860940695 ENSG00000236637 chr9:21186999-21186999;G/A missense_variant False IFNA5@p.L22V 1 0.333333333 ENSG00000147873 chr9:21305193-21305193;G/C missense_variant False IFNA5@p.Q148E 1 0.136612022 ENSG00000147873 chr9:21304815-21304815;G/C missense_variant False IFT140@p.V494I 1 0.098039216 ENSG00000187535 chr16:1580803-1580803;C/T missense_variant False IFT172@p.E623K 1 0.262773723 ENSG00000138002 chr2:27465481-27465481;C/T missense_variant False IFT172@p.E1042K 1 0.206349206 ENSG00000138002 chr2:27457743-27457743;C/T missense_variant False IFT172@p.D237N 1 0.188679245 ENSG00000138002 chr2:27481122-27481122;C/T missense_variant False IFT172@p.D1359Y 1 0.504587156 ENSG00000138002 chr2:27449776-27449776;C/A missense_variant False IFT172@p.D1030N 1 0.421052632 ENSG00000138002 chr2:27457864-27457864;C/T missense_variant False IFT172@p.A1447T 1 0.145833333 ENSG00000138002 chr2:27449004-27449004;C/T missense_variant False IFT140@p.S574F 1 0.28 ENSG00000187535 chr16:1568266-1568266;G/A missense_variant False IFT122@p.Y363N 1 0.382978723 ENSG00000163913 chr3:129476741-129476741;T/A missense_variant False IFT140@p.R831H 1 0.285714286 ENSG00000187535 chr16:1526704-1526704;C/T missense_variant False IFT140@p.Q998L 1 0.319444444 ENSG00000187535 chr16:1524788-1524788;T/A missense_variant False IFT140@p.P261T 1 0.095238095 ENSG00000187535 chr16:1589634-1589634;G/T missense_variant False IFT140@p.K187N 1 0.319444444 ENSG00000187535 chr16:1592249-1592249;C/A missense_variant False IFT140@p.E846Q 1 0.352941176 ENSG00000187535 chr16:1526660-1526660;C/G missense_variant False IFT140@p.E623Q 1 0.292682927 ENSG00000187535 chr16:1566195-1566195;C/G missense_variant False IFT172@p.E820Q 1 0.357466063 ENSG00000138002 chr2:27461078-27461078;C/G missense_variant False IFT172@p.G1306A 1 0.179487179 ENSG00000138002 chr2:27453418-27453418;C/G missense_variant False IFT172@p.G1346A 1 0.22 ENSG00000138002 chr2:27450011-27450011;C/G missense_variant False IFT172@p.G809W 1 0.193548387 ENSG00000138002 chr2:27461286-27461286;C/A missense_variant False IFT172@p.Q977E 1 0.142857143 ENSG00000138002 chr2:27458172-27458172;G/C missense_variant False IFT172@p.S146C 1 0.23943662 ENSG00000138002 chr2:27483625-27483625;G/C missense_variant False IFT172@p.S169F 1 0.139240506 ENSG00000138002 chr2:27483353-27483353;G/A missense_variant False IFT172@p.W1374C 1 0.273504274 ENSG00000138002 chr2:27449729-27449729;C/G missense_variant False IFT172@p.Y1396C 1 0.257142857 ENSG00000138002 chr2:27449536-27449536;T/C missense_variant False IFT20@p.E64K 1 0.109756098 ENSG00000109083 chr17:28330466-28330466;C/T missense_variant False IFT43@p.W176L 1 0.292929293 ENSG00000119650 chr14:76083477-76083477;G/T missense_variant False IFT46@p.K17E 1 0.5 ENSG00000118096 chr11:118557042-118557042;T/C missense_variant False IFT52@p.D251N 1 0.082568807 ENSG00000101052 chr20:43620908-43620908;G/A missense_variant False IFT52@p.L420F 1 0.108108108 ENSG00000101052 chr20:43642618-43642618;G/C missense_variant False IFT52@p.Y14C 1 0.447761194 ENSG00000101052 chr20:43594739-43594739;A/G missense_variant False IFT57@p.G427A 1 0.447368421 ENSG00000114446 chr3:108162487-108162487;C/G missense_variant False IFT74@p.E232D 1 0.283018868 ENSG00000096872 chr9:27009128-27009128;G/C missense_variant False IFT140@p.E322Q 1 0.203703704 ENSG00000187535 chr16:1587243-1587243;C/G missense_variant False IFT122@p.M422R 1 0.257142857 ENSG00000163913 chr3:129478133-129478133;T/G missense_variant False IFNAR1@p.L396F 1 0.349206349 ENSG00000142166 chr21:33352802-33352802;G/T missense_variant False IFNG@p.L56F 1 0.269230769 ENSG00000111537 chr12:68158206-68158206;C/G missense_variant False IFNGR2@p.S257L 1 0.411764706 ENSG00000159128 chr21:33432762-33432762;C/T missense_variant False IFNGR2@p.S124F 1 0.180327869 ENSG00000159128 chr21:33421644-33421644;C/T missense_variant False IFNGR2@p.F268L 1 0.338028169 ENSG00000159128 chr21:33432796-33432796;C/A missense_variant False IFNGR2@p.D332H 1 0.136986301 ENSG00000159128 chr21:33436942-33436942;G/C missense_variant False IFNGR1@p.M178V 1 0.376237624 ENSG00000027697 chr6:137204346-137204346;T/C missense_variant False IFNGR1@p.L259V 1 0.150684932 ENSG00000027697 chr6:137200967-137200967;G/C missense_variant False IFNG@p.L34V 1 0.087719298 ENSG00000111537 chr12:68159516-68159516;G/C missense_variant False IFT122@p.L306V 1 0.506493506 ENSG00000163913 chr3:129476414-129476414;C/G missense_variant False IFNE@p.R150S 1 0.115942029 ENSG00000184995 chr9:21481245-21481245;C/A missense_variant False IFNE@p.R150K 1 0.115384615 ENSG00000184995 chr9:21481246-21481246;C/T missense_variant False IFNE@p.Q64E 1 0.367647059 ENSG00000184995 chr9:21481505-21481505;G/C missense_variant False IFNB1@p.E63K 1 0.555555556 ENSG00000171855 chr9:21077683-21077683;C/T missense_variant False IFNAR2@p.S133C 1 0.175925926 ENSG00000159110 chr21:33248712-33248712;C/G missense_variant False IFNAR2@p.L359F 1 0.275590551 ENSG00000159110 chr21:33263029-33263029;G/C missense_variant False IFNK@p.E71K 1 0.35443038 ENSG00000147896 chr9:27524547-27524547;G/A missense_variant False IFNK@p.I185T 1 0.282608696 ENSG00000147896 chr9:27524890-27524890;T/C missense_variant False IFNK@p.P69A 1 0.1484375 ENSG00000147896 chr9:27524541-27524541;C/G missense_variant False IFNL3@p.R146S 1 0.314285714 ENSG00000197110 chr19:39243878-39243878;C/G missense_variant False IFNLR1@p.S424C 1 0.116666667 ENSG00000185436 chr1:24157422-24157422;G/C missense_variant False IFNLR1@p.S478N 1 0.163636364 ENSG00000185436 chr1:24157260-24157260;C/T missense_variant False IFNLR1@p.T305M 1 0.214899713 ENSG00000185436 chr1:24157779-24157779;G/A missense_variant False IFNW1@p.L80H 1 0.132275132 ENSG00000177047 chr9:21141332-21141332;A/T missense_variant False IFRD1@p.A445T 1 0.233333333 ENSG00000288640 chr7:112475496-112475496;G/A missense_variant False IFRD1@p.E69K 1 0.157142857 ENSG00000288640 chr7:112456007-112456007;G/A missense_variant False IFRD2@p.E346K 1 0.222222222 ENSG00000214706 chr3:50289296-50289296;C/T missense_variant False IFRD2@p.H224Y 1 0.25 ENSG00000214706 chr3:50289997-50289997;G/A missense_variant False IFRD2@p.S169F 1 0.2 ENSG00000214706 chr3:50290244-50290244;G/A missense_variant False IFT122@p.A1003S 1 0.153846154 ENSG00000163913 chr3:129514408-129514408;G/T missense_variant False IFT122@p.D791N 1 0.057142857 ENSG00000163913 chr3:129500064-129500064;G/A missense_variant False IFT122@p.F975L 1 0.184115523 ENSG00000163913 chr3:129512350-129512350;C/G missense_variant False IFT122@p.L218V 1 0.35 ENSG00000163913 chr3:129466978-129466978;C/G missense_variant False IDI1@p.D198H 1 0.108108108 ENSG00000067064 chr10:1041450-1041450;C/G missense_variant False IDH3B@p.L280V 1 0.40952381 ENSG00000101365 chr20:2660107-2660107;G/C missense_variant False IDH3B@p.I373M 1 0.402061856 ENSG00000101365 chr20:2658790-2658790;G/C missense_variant False IBA57@p.E230Q 1 0.254385965 ENSG00000181873 chr1:228175130-228175130;G/C missense_variant False IBTK@p.L1308V 1 0.12195122 ENSG00000005700 chr6:82172388-82172388;G/C missense_variant False IBTK@p.G206E 1 0.4 ENSG00000005700 chr6:82227229-82227229;C/T missense_variant False IBTK@p.E549Q 1 0.333333333 ENSG00000005700 chr6:82214786-82214786;C/G missense_variant False IBTK@p.E1233Q 1 0.09375 ENSG00000005700 chr6:82181907-82181907;C/G missense_variant False IBSP@p.N86S 1 0.446808511 ENSG00000029559 chr4:87810616-87810616;A/G missense_variant False IBSP@p.E236A 1 0.20754717 ENSG00000029559 chr4:87811663-87811663;A/C missense_variant False IARS2@p.R8C 1 0.45 ENSG00000067704 chr1:220094238-220094238;C/T missense_variant False IARS2@p.A701T 1 0.538461538 ENSG00000067704 chr1:220137969-220137969;G/A missense_variant False IARS2@p.R103T 1 0.174757282 ENSG00000067704 chr1:220096144-220096144;G/C missense_variant False IARS2@p.Q173E 1 0.204081633 ENSG00000067704 chr1:220100616-220100616;C/G missense_variant False IARS2@p.L15V 1 0.3 ENSG00000067704 chr1:220094259-220094259;C/G missense_variant False IARS2@p.G659E 1 0.348837209 ENSG00000067704 chr1:220136838-220136838;G/A missense_variant False IARS2@p.E345K 1 0.295918367 ENSG00000067704 chr1:220103529-220103529;G/A missense_variant False IARS2@p.D722N 1 0.295918367 ENSG00000067704 chr1:220138032-220138032;G/A missense_variant False IBTK@p.Q1236E 1 0.235294118 ENSG00000005700 chr6:82181898-82181898;G/C missense_variant False IBTK@p.Q368E 1 0.5 ENSG00000005700 chr6:82223462-82223462;G/C missense_variant False IBTK@p.R1123K 1 0.277777778 ENSG00000005700 chr6:82191850-82191850;C/T missense_variant False IBTK@p.R469T 1 0.2 ENSG00000005700 chr6:82217980-82217980;C/G missense_variant False IBTK@p.S1244C 1 0.090909091 ENSG00000005700 chr6:82173433-82173433;G/C missense_variant False IBTK@p.V953I 1 0.5 ENSG00000005700 chr6:82200642-82200642;C/T missense_variant False ICA1@p.L218H 1 0.418439716 ENSG00000003147 chr7:8158579-8158579;A/T missense_variant False ICA1@p.L219F 1 0.052631579 ENSG00000003147 chr7:8158577-8158577;G/A missense_variant False ICA1@p.L238V 1 0.186440678 ENSG00000003147 chr7:8157208-8157208;G/C missense_variant False ICA1@p.L98F 1 0.365591398 ENSG00000003147 chr7:8221363-8221363;G/A missense_variant False ICA1@p.Q104K 1 0.086956522 ENSG00000003147 chr7:8221345-8221345;G/T missense_variant False ICA1@p.S466L 1 0.512820513 ENSG00000003147 chr7:8113978-8113978;G/A missense_variant False ICA1L@p.D332H 1 0.25862069 ENSG00000163596 chr2:202789079-202789079;C/G missense_variant False ICA1L@p.E300Q 1 0.070175439 ENSG00000163596 chr2:202811758-202811758;C/G missense_variant False ICA1L@p.Q437H 1 0.325581395 ENSG00000163596 chr2:202785940-202785940;C/G missense_variant False ICA1L@p.S221F 1 0.396551724 ENSG00000163596 chr2:202817440-202817440;G/A missense_variant False ICA1L@p.T238I 1 0.575757576 ENSG00000163596 chr2:202815981-202815981;G/A missense_variant False IARS2@p.D563N 1 0.140625 ENSG00000067704 chr1:220125283-220125283;G/A missense_variant False IARS1@p.T63K 1 0.536231884 ENSG00000196305 chr9:92288214-92288214;G/T missense_variant False ICAM1@p.E327K 1 0.119047619 ENSG00000090339 chr19:10284456-10284456;G/A missense_variant False HYDIN@p.E2672Q 1 0.287878788 ENSG00000157423 chr16:70908852-70908852;C/G missense_variant False HYDIN@p.E4957Q 1 0.170588235 ENSG00000157423 chr16:70809797-70809797;C/G missense_variant False HYDIN@p.E4918K 1 0.273603083 ENSG00000157423 chr16:70809914-70809914;C/T missense_variant False HYDIN@p.E4900K 1 0.29245283 ENSG00000157423 chr16:70809968-70809968;C/T missense_variant False HYDIN@p.E4666K 1 0.2 ENSG00000157423 chr16:70829734-70829734;C/T missense_variant False HYDIN@p.E4503K 1 0.183908046 ENSG00000157423 chr16:70834059-70834059;C/T missense_variant False HYDIN@p.E3052K 1 0.2 ENSG00000157423 chr16:70894543-70894543;C/T missense_variant False HYDIN@p.E2461K 1 0.228070175 ENSG00000157423 chr16:70920995-70920995;C/T missense_variant False IARS1@p.R441Q 1 0.307692308 ENSG00000196305 chr9:92268283-92268283;C/T missense_variant False HYDIN@p.E1872K 1 0.217948718 ENSG00000157423 chr16:70970525-70970525;C/T missense_variant False HYDIN@p.D1643H 1 0.222222222 ENSG00000157423 chr16:70974283-70974283;C/G missense_variant False HYDIN@p.A1241S 1 0.061538462 ENSG00000157423 chr16:70992134-70992134;C/A missense_variant False HYAL4@p.V14A 1 0.184 ENSG00000106302 chr7:123868314-123868314;T/C missense_variant False HYAL4@p.S33C 1 0.287878788 ENSG00000106302 chr7:123868371-123868371;C/G missense_variant False HYAL4@p.M286I 1 0.201183432 ENSG00000106302 chr7:123869131-123869131;G/C missense_variant False HYDIN@p.E5067K 1 0.235772358 ENSG00000157423 chr16:70807747-70807747;C/T missense_variant False HYDIN@p.E5082K 1 0.168224299 ENSG00000157423 chr16:70807702-70807702;C/T missense_variant False HYDIN@p.E683Q 1 0.109589041 ENSG00000157423 chr16:71067318-71067318;C/G missense_variant False HYDIN@p.F21L 1 0.095238095 ENSG00000157423 chr16:71186833-71186833;G/C missense_variant False HYDIN@p.M2273I 1 0.1875 ENSG00000157423 chr16:70941670-70941670;C/T missense_variant False HYDIN@p.Q1867K 1 0.28125 ENSG00000157423 chr16:70970540-70970540;G/T missense_variant False HYDIN@p.R1610L 1 0.13 ENSG00000157423 chr16:70974614-70974614;C/A missense_variant False HYDIN@p.R3811C 1 0.380952381 ENSG00000157423 chr16:70866209-70866209;G/A missense_variant False HYDIN@p.R4198S 1 0.421052632 ENSG00000157423 chr16:70850505-70850505;C/A missense_variant False HYKK@p.S323C 1 0.063291139 ENSG00000188266 chr15:78533516-78533516;C/G missense_variant False HYLS1@p.Q244H 1 0.285714286 ENSG00000198331 chr11:125900100-125900100;G/C missense_variant False HYOU1@p.D298H 1 0.25 ENSG00000149428 chr11:119052732-119052732;C/G missense_variant False HYOU1@p.E671K 1 0.523364486 ENSG00000149428 chr11:119048868-119048868;C/T missense_variant False HYOU1@p.H831R 1 0.543478261 ENSG00000149428 chr11:119047965-119047965;T/C missense_variant False IAPP@p.Q29E 1 0.524271845 ENSG00000121351 chr12:21378241-21378241;C/G missense_variant False IARS1@p.D66H 1 0.348484848 ENSG00000196305 chr9:92288206-92288206;C/G missense_variant False IARS1@p.E708D 1 0.338983051 ENSG00000196305 chr9:92256693-92256693;C/G missense_variant False ICAM1@p.E165K 1 0.176470588 ENSG00000090339 chr19:10283642-10283642;G/A missense_variant False ICAM1@p.Q297H 1 0.146666667 ENSG00000090339 chr19:10284286-10284286;G/C missense_variant False IDH3B@p.E94K 1 0.714285714 ENSG00000101365 chr20:2663503-2663503;C/T missense_variant False ICMT@p.V134A 1 0.456521739 ENSG00000116237 chr1:6233527-6233527;A/G missense_variant False ID1@p.S26R 1 0.260869565 ENSG00000125968 chr20:31605465-31605465;C/G missense_variant False ID1@p.R121P 1 0.6 ENSG00000125968 chr20:31605749-31605749;G/C missense_variant False ID1@p.E93K 1 0.52173913 ENSG00000125968 chr20:31605664-31605664;G/A missense_variant False ID1@p.E30K 1 0.55 ENSG00000125968 chr20:31605475-31605475;G/A missense_variant False ICOS@p.K81I 1 0.309090909 ENSG00000163600 chr2:203955819-203955819;A/T missense_variant False ICOS@p.F82L 1 0.320754717 ENSG00000163600 chr2:203955821-203955821;T/C missense_variant False ICMT@p.S212F 1 0.346666667 ENSG00000116237 chr1:6231939-6231939;G/A missense_variant False ICE2@p.E970K 1 0.481481481 ENSG00000128915 chr15:60423675-60423675;C/T missense_variant False ICMT@p.P116S 1 0.07 ENSG00000116237 chr1:6233582-6233582;G/A missense_variant False ICE2@p.Y193C 1 0.279069767 ENSG00000128915 chr15:60456745-60456745;T/C missense_variant False ICE2@p.S453F 1 0.272727273 ENSG00000128915 chr15:60449609-60449609;G/A missense_variant False ICE2@p.R106S 1 0.46835443 ENSG00000128915 chr15:60468151-60468151;C/G missense_variant False ICE2@p.Q702H 1 0.131578947 ENSG00000128915 chr15:60448861-60448861;C/G missense_variant False ICE2@p.Q612R 1 0.577777778 ENSG00000128915 chr15:60449132-60449132;T/C missense_variant False ID1@p.T8I 1 0.826086957 ENSG00000125968 chr20:31605410-31605410;C/T missense_variant False ID2@p.S122C 1 0.329896907 ENSG00000115738 chr2:8682859-8682859;C/G missense_variant False ID3@p.A3T 1 0.5 ENSG00000117318 chr1:23559420-23559420;C/T missense_variant False IDE@p.D977G 1 0.219512195 ENSG00000119912 chr10:92455610-92455610;T/C missense_variant False IDE@p.Q407E 1 0.147186147 ENSG00000119912 chr10:92507601-92507601;G/C missense_variant False IDE@p.T118A 1 0.305084746 ENSG00000119912 chr10:92534717-92534717;T/C missense_variant False IDH1@p.D160E 1 0.410526316 ENSG00000138413 chr2:208245359-208245359;G/T missense_variant True IDH1@p.D347N 1 0.28125 ENSG00000138413 chr2:208239186-208239186;C/T missense_variant True IDH1@p.D43H 1 0.054545455 ENSG00000138413 chr2:208248656-208248656;C/G missense_variant True IDH1@p.E12K 1 0.260869565 ENSG00000138413 chr2:208251518-208251518;C/T missense_variant True IDH1@p.L376Vfs*17 1 0.416666667 ENSG00000138413 chr2:208239097-208239099;CAA/AC frameshift_variant True IDH1@p.M291I 1 0.206521739 ENSG00000138413 chr2:208239981-208239981;C/T missense_variant True IDH1@p.R132C 1 0.166666667 ENSG00000138413 chr2:208248389-208248389;G/A missense_variant True IDH1@p.R132H 1 0.31092437 ENSG00000138413 chr2:208248388-208248388;C/T missense_variant True IDH2@p.G137E 1 0.261904762 ENSG00000182054 chr15:90088711-90088711;C/T missense_variant True IDH2@p.M411I 1 0.144385027 ENSG00000182054 chr15:90084854-90084854;C/A missense_variant True IDH3A@p.R25T 1 0.135135135 ENSG00000166411 chr15:78155259-78155259;G/C missense_variant False ICE2@p.L86I 1 0.184210526 ENSG00000128915 chr15:60468213-60468213;G/T missense_variant False ICE2@p.E540K 1 0.23880597 ENSG00000128915 chr15:60449349-60449349;C/T missense_variant False ICAM1@p.T341M 1 0.239130435 ENSG00000090339 chr19:10284499-10284499;C/T missense_variant False ICAM5@p.R541C 1 0.321428571 ENSG00000105376 chr19:10293853-10293853;C/T missense_variant False ICE1@p.E1968Q 1 0.1875 ENSG00000164151 chr5:5466343-5466343;G/C missense_variant False ICE1@p.E1952D 1 0.230769231 ENSG00000164151 chr5:5465190-5465190;G/C missense_variant False ICE1@p.D396N 1 0.4 ENSG00000164151 chr5:5460520-5460520;G/A missense_variant False ICE1@p.D2134N 1 0.239130435 ENSG00000164151 chr5:5473735-5473735;G/A missense_variant False ICAM5@p.W584C 1 0.068965517 ENSG00000105376 chr19:10294080-10294080;G/C missense_variant False ICAM5@p.R61W 1 0.205128205 ENSG00000105376 chr19:10291170-10291170;C/T missense_variant False ICAM5@p.R177Q 1 0.23255814 ENSG00000105376 chr19:10291666-10291666;G/A missense_variant False ICE2@p.E517Q 1 0.255319149 ENSG00000128915 chr15:60449418-60449418;C/G missense_variant False ICAM5@p.R175Q 1 0.151515152 ENSG00000105376 chr19:10291660-10291660;G/A missense_variant False ICAM5@p.G193A 1 0.666666667 ENSG00000105376 chr19:10291714-10291714;G/C missense_variant False ICAM5@p.D447H 1 0.183333333 ENSG00000105376 chr19:10293120-10293120;G/C missense_variant False ICAM3@p.R341G 1 0.493150685 ENSG00000076662 chr19:10334699-10334699;G/C missense_variant False ICAM3@p.Q359E 1 0.324786325 ENSG00000076662 chr19:10334645-10334645;G/C missense_variant False ICAM3@p.L379V 1 0.492537313 ENSG00000076662 chr19:10334585-10334585;G/C missense_variant False ICE1@p.E2020K 1 0.092592593 ENSG00000164151 chr5:5466499-5466499;G/A missense_variant False ICE1@p.E418K 1 0.375 ENSG00000164151 chr5:5460586-5460586;G/A missense_variant False ICE1@p.K503T 1 0.424242424 ENSG00000164151 chr5:5460842-5460842;A/C missense_variant False ICE1@p.L269V 1 0.2 ENSG00000164151 chr5:5457445-5457445;C/G missense_variant False ICE1@p.P2209S 1 0.134615385 ENSG00000164151 chr5:5489154-5489154;C/T missense_variant False ICE1@p.Q871H 1 0.266666667 ENSG00000164151 chr5:5461947-5461947;G/C missense_variant False ICE1@p.S1244L 1 0.571428571 ENSG00000164151 chr5:5463065-5463065;C/T missense_variant False ICE1@p.S1559L 1 0.129032258 ENSG00000164151 chr5:5464010-5464010;C/T missense_variant False ICE1@p.S1573L 1 0.294117647 ENSG00000164151 chr5:5464052-5464052;C/T missense_variant False ICE1@p.S452F 1 0.227272727 ENSG00000164151 chr5:5460689-5460689;C/T missense_variant False ICE1@p.S457Y 1 0.352941176 ENSG00000164151 chr5:5460704-5460704;C/A missense_variant False ICE1@p.S648F 1 0.149425287 ENSG00000164151 chr5:5461277-5461277;C/T missense_variant False ICE1@p.S665F 1 0.344262295 ENSG00000164151 chr5:5461328-5461328;C/T missense_variant False ICE2@p.A431S 1 0.117647059 ENSG00000128915 chr15:60449676-60449676;C/A missense_variant False ICE2@p.D718H 1 0.357142857 ENSG00000128915 chr15:60448113-60448113;C/G missense_variant False ICE2@p.E270Q 1 0.11627907 ENSG00000128915 chr15:60455138-60455138;C/G missense_variant False ICE2@p.E387K 1 0.173913043 ENSG00000128915 chr15:60449808-60449808;C/T missense_variant False IFT74@p.E232Q 1 0.175438596 ENSG00000096872 chr9:27009126-27009126;G/C missense_variant False IFT80@p.R477I 1 0.62962963 ENSG00000068885 chr3:160282564-160282564;C/A missense_variant False HYAL2@p.Y364C 1 0.526315789 ENSG00000068001 chr3:50318460-50318460;T/C missense_variant False IGKV1D-16@p.W54R 1 0.240963855 ENSG00000241244 chr2:90100547-90100547;T/C missense_variant False IGKV2-28@p.Q67L 1 0.333333333 ENSG00000244116 chr2:89221858-89221858;T/A missense_variant False IGKV1D-8@p.L32Yfs*16 1 0.4 ENSG00000239819 chr2:90221125-90221125;T/- frameshift_variant False IGKV1D-8@p.L14Q 1 0.093896714 ENSG00000239819 chr2:90220948-90220948;T/A missense_variant False IGKV1D-17@p.W57C 1 0.251231527 ENSG00000242766 chr2:90083111-90083111;G/C missense_variant False IGKV1D-17@p.S29F 1 0.487272727 ENSG00000242766 chr2:90083026-90083026;C/T missense_variant False IGKV1D-17@p.L55S 1 0.992366412 ENSG00000242766 chr2:90083104-90083104;T/C missense_variant False IGKV1D-16@p.M3K 1 0.251748252 ENSG00000241244 chr2:90100270-90100270;T/A missense_variant False IGKV2-30@p.D80H 1 0.496 ENSG00000243238 chr2:89244903-89244903;C/G missense_variant False IGKV1D-16@p.L100P 1 0.579365079 ENSG00000241244 chr2:90100686-90100686;T/C missense_variant False IGKV1D-16@p.E103K 1 0.069364162 ENSG00000241244 chr2:90100694-90100694;G/A missense_variant False IGKV1D-13@p.A47E 1 0.175675676 ENSG00000276566 chr2:90154363-90154363;C/A missense_variant False IGKV1-9@p.L68I 1 0.068100358 ENSG00000241755 chr2:89010131-89010131;G/T missense_variant False IGKV1-9@p.L26F 1 0.091254753 ENSG00000241755 chr2:89010255-89010255;C/A missense_variant False IGKV1-6@p.A72G 1 0.459459459 ENSG00000239855 chr2:88966398-88966398;G/C missense_variant False IGKV2-30@p.D21E 1 0.137254902 ENSG00000243238 chr2:89245078-89245078;A/C missense_variant False IGKV2-30@p.P38L 1 0.405797101 ENSG00000243238 chr2:89245028-89245028;G/A missense_variant False IFT80@p.S350L 1 0.128712871 ENSG00000068885 chr3:160307690-160307690;G/A missense_variant False IGKV3-15@p.L67P 1 0.265486726 ENSG00000244437 chr2:89085322-89085322;A/G missense_variant False IGKV3D-20@p.L24F 1 0.252336449 ENSG00000211625 chr2:90039203-90039203;G/C missense_variant False IGKV3D-15@p.V49G 1 0.111111111 ENSG00000224041 chr2:90115201-90115201;T/G missense_variant False IGKV3D-11@p.A29V 1 0.185714286 ENSG00000211632 chr2:90173153-90173153;C/T missense_variant False IGKV3-20@p.L8P 1 0.173553719 ENSG00000239951 chr2:89143086-89143086;A/G missense_variant False IGKV3-15@p.P64T 1 0.046511628 ENSG00000244437 chr2:89085332-89085332;G/T missense_variant False IGKV3-15@p.M24I 1 0.122807018 ENSG00000244437 chr2:89085450-89085450;C/T missense_variant False IGKV3-11@p.R111S 1 0.397727273 ENSG00000241351 chr2:89027185-89027185;G/T missense_variant False IGKV2-30@p.V108F 1 0.109090909 ENSG00000243238 chr2:89244819-89244819;C/A missense_variant False IGKV3-11@p.P28S 1 0.119047619 ENSG00000241351 chr2:89027434-89027434;G/A missense_variant False IGKV3-11@p.E101K 1 0.178343949 ENSG00000241351 chr2:89027215-89027215;C/T missense_variant False IGKV2D-29@p.G91W 1 0.275862069 ENSG00000243264 chr2:89948180-89948180;G/T missense_variant False IGKV2D-28@p.L71I 1 0.333333333 ENSG00000242534 chr2:89960599-89960599;C/A missense_variant False IGKV2D-24@p.F80L 1 0.207272727 ENSG00000241566 chr2:90005509-90005509;C/G missense_variant False IGKV2D-24@p.A105D 1 0.608391608 ENSG00000241566 chr2:90005583-90005583;C/A missense_variant False IGKV1-5@p.A73V 1 0.272108844 ENSG00000243466 chr2:88947434-88947434;G/A missense_variant False IGKV1-16@p.S89F 1 0.344608879 ENSG00000240864 chr2:89099944-89099944;G/A missense_variant False IGKV1-16@p.G86R 1 0.175879397 ENSG00000240864 chr2:89099954-89099954;C/G missense_variant False IGHV3-64@p.R87K 1 0.146496815 ENSG00000223648 chr14:106657819-106657819;C/T missense_variant False IGHV3OR16-8@p.L30F 1 0.098976109 ENSG00000271130 chr16:33009361-33009361;G/T missense_variant False IGHV3-7@p.E108K 1 0.17535545 ENSG00000211938 chr14:106062180-106062180;C/T missense_variant False IGHV3-72@p.M53V 1 0.12987013 ENSG00000225698 chr14:106790894-106790894;T/C missense_variant False IGHV3-72@p.F89L 1 0.205128205 ENSG00000225698 chr14:106790786-106790786;A/G missense_variant False IGHV3-72@p.A113T 1 0.197969543 ENSG00000225698 chr14:106790714-106790714;C/T missense_variant False IGHV3-64@p.S83P 1 0.079207921 ENSG00000223648 chr14:106657832-106657832;A/G missense_variant False IGHV3-49@p.R119G 1 0.457142857 ENSG00000211965 chr14:106556940-106556940;T/C missense_variant False IGKV1-16@p.G86A 1 0.179104478 ENSG00000240864 chr2:89099953-89099953;C/G missense_variant False IGHV3-48@p.S73I 1 0.131498471 ENSG00000211964 chr14:106537945-106537945;C/A missense_variant False IGHV3-48@p.E108K 1 0.244444444 ENSG00000211964 chr14:106537841-106537841;C/T missense_variant False IGHV3-43@p.S76C 1 0.676982592 ENSG00000232216 chr14:106470392-106470392;T/A missense_variant False IGHV3-38@p.G63V 1 0.078740157 ENSG00000211958 chr14:106410653-106410653;C/A missense_variant False IGHV3-33@p.D73N 1 0.170909091 ENSG00000211955 chr14:106359927-106359927;C/T missense_variant False IGHV3-23@p.V56D 1 0.213483146 ENSG00000211949 chr14:106268792-106268792;A/T missense_variant False IGHV3OR16-8@p.S68L 1 0.32345679 ENSG00000271130 chr16:33009474-33009474;C/T missense_variant False IGHV4-28@p.D92N 1 0.068403909 ENSG00000211952 chr14:106324333-106324333;C/T missense_variant False IGHV4-34@p.T94A 1 0.12012987 ENSG00000211956 chr14:106373752-106373752;T/C missense_variant False IGHV4-34@p.W62C 1 0.14084507 ENSG00000211956 chr14:106373846-106373846;C/G missense_variant False IGHV4-59@p.P14L 1 0.076923077 ENSG00000224373 chr14:106627640-106627640;G/A missense_variant False IGHV4-61@p.Q20E 1 0.219178082 ENSG00000211970 chr14:106639417-106639417;G/C missense_variant False IGHV5-51@p.S26F 1 0.27027027 ENSG00000211966 chr14:106579018-106579018;G/A missense_variant False IGHV6-1@p.S51R 1 0.37037037 ENSG00000211933 chr14:105939966-105939966;G/T missense_variant False IGHV7-81@p.F70L 1 0.094736842 ENSG00000211979 chr14:106874724-106874724;G/C missense_variant False IGHV7-81@p.R117T 1 0.08994709 ENSG00000211979 chr14:106874584-106874584;C/G missense_variant False IGIP@p.E47K 1 0.226804124 ENSG00000182700 chr5:140128615-140128615;G/A missense_variant False IGIP@p.F48C 1 0.543209877 ENSG00000182700 chr5:140128619-140128619;T/G missense_variant False IGKC@p.E16K 1 0.176470588 ENSG00000211592 chr2:88857639-88857639;C/T missense_variant False IGKJ4@p.G5R 1 0.507042254 ENSG00000211594 chr2:88860910-88860910;C/T missense_variant False IGKV1-12@p.M3I 1 0.075 ENSG00000243290 chr2:89040690-89040690;C/T missense_variant False IGKV1-12@p.R46W 1 0.09122807 ENSG00000243290 chr2:89040439-89040439;G/A missense_variant False IGKV1-16@p.D23H 1 0.355371901 ENSG00000240864 chr2:89100143-89100143;C/G missense_variant False IGKV4-1@p.I101M 1 0.482758621 ENSG00000211598 chr2:88886093-88886093;C/G missense_variant False IGKV4-1@p.I41M 1 0.108695652 ENSG00000211598 chr2:88885913-88885913;C/G missense_variant False IGKV5-2@p.I41L 1 0.6 ENSG00000211599 chr2:88897560-88897560;A/C missense_variant False IGLV8-61@p.D111H 1 0.427272727 ENSG00000211638 chr22:22099175-22099175;G/C missense_variant False IGSF10@p.D432H 1 0.348837209 ENSG00000152580 chr3:151448687-151448687;C/G missense_variant False IGSF10@p.D421H 1 0.5 ENSG00000152580 chr3:151448720-151448720;C/G missense_variant False IGSF10@p.D246G 1 0.130952381 ENSG00000152580 chr3:151449244-151449244;T/C missense_variant False IGSF10@p.D2188H 1 0.5 ENSG00000152580 chr3:151437999-151437999;C/G missense_variant False IGSF10@p.A2496T 1 0.425373134 ENSG00000152580 chr3:151437075-151437075;C/T missense_variant False IGLV9-49@p.Q25E 1 0.166666667 ENSG00000223350 chr22:22343433-22343433;C/G missense_variant False IGLV7-46@p.G90S 1 0.086956522 ENSG00000211649 chr22:22370004-22370004;G/A missense_variant False IGLV5-37@p.G62Sfs*10 1 0.178082192 ENSG00000211654 chr22:22427849-22427865;AGGGAGCCCTCCCAGGT/- frameshift_variant False IGLV7-43@p.Y107C 1 0.31372549 ENSG00000211652 chr22:22395458-22395458;A/G missense_variant False IGLV7-43@p.S86C 1 0.227272727 ENSG00000211652 chr22:22395395-22395395;C/G missense_variant False IGLV5-52@p.S30F 1 0.058823529 ENSG00000211643 chr22:22318941-22318941;C/T missense_variant False IGLV5-52@p.S103C 1 0.252918288 ENSG00000211643 chr22:22319160-22319160;C/G missense_variant False IGLV5-45@p.Y71D 1 0.25 ENSG00000211650 chr22:22376347-22376347;T/G missense_variant False IGLV5-45@p.S88C 1 0.2 ENSG00000211650 chr22:22376399-22376399;C/G missense_variant False IGSF10@p.D455N 1 0.09375 ENSG00000152580 chr3:151448618-151448618;C/T missense_variant False IGSF10@p.E1628K 1 0.075 ENSG00000152580 chr3:151445099-151445099;C/T missense_variant False IGSF10@p.E236K 1 0.112068966 ENSG00000152580 chr3:151453393-151453393;C/T missense_variant False IGSF10@p.E902K 1 0.235988201 ENSG00000152580 chr3:151447277-151447277;C/T missense_variant False IGSF10@p.F1291Y 1 0.296089385 ENSG00000152580 chr3:151446109-151446109;A/T missense_variant False IGSF10@p.G1020R 1 0.111111111 ENSG00000152580 chr3:151446923-151446923;C/T missense_variant False IGSF10@p.G1599D 1 0.270833333 ENSG00000152580 chr3:151445185-151445185;C/T missense_variant False IGSF10@p.G2580R 1 0.220930233 ENSG00000152580 chr3:151436823-151436823;C/T missense_variant False IGSF10@p.L1728V 1 0.463157895 ENSG00000152580 chr3:151443765-151443765;G/C missense_variant False IGSF10@p.M1190I 1 0.459119497 ENSG00000152580 chr3:151446411-151446411;C/A missense_variant False IGSF10@p.M927I 1 0.032786885 ENSG00000152580 chr3:151447200-151447200;C/T missense_variant False IGSF10@p.Q577E 1 0.350649351 ENSG00000152580 chr3:151448252-151448252;G/C missense_variant False IGSF10@p.R477W 1 0.089552239 ENSG00000152580 chr3:151448552-151448552;T/A missense_variant False IGSF10@p.R518T 1 0.486607143 ENSG00000152580 chr3:151448428-151448428;C/G missense_variant False IGSF10@p.S1366C 1 0.23125 ENSG00000152580 chr3:151445884-151445884;G/C missense_variant False IGSF10@p.S2306L 1 0.055555556 ENSG00000152580 chr3:151437644-151437644;G/A missense_variant False IGSF10@p.T1178A 1 0.288973384 ENSG00000152580 chr3:151446449-151446449;T/C missense_variant False IGLV5-45@p.S30C 1 0.195652174 ENSG00000211650 chr22:22376225-22376225;C/G missense_variant False IGLV4-60@p.E114K 1 0.441176471 ENSG00000211639 chr22:22162659-22162659;G/A missense_variant False IGKV5-2@p.P115L 1 0.875 ENSG00000211599 chr2:88897783-88897783;C/T missense_variant False IGLC3@p.N64D 1 0.292682927 ENSG00000211679 chr22:22906530-22906530;A/G missense_variant False IGLV1-40@p.S21F 1 0.114155251 ENSG00000211653 chr22:22409988-22409988;C/T missense_variant False IGLV1-36@p.S28L 1 0.075268817 ENSG00000211655 chr22:22432195-22432195;C/T missense_variant False IGLON5@p.R84W 1 0.386363636 ENSG00000142549 chr19:51323753-51323753;C/T missense_variant False IGLON5@p.R68H 1 0.32 ENSG00000142549 chr19:51323706-51323706;G/A missense_variant False IGLON5@p.L87V 1 0.189189189 ENSG00000142549 chr19:51323762-51323762;C/G missense_variant False IGLL5@p.E205Q 1 0.294117647 ENSG00000254709 chr22:22895662-22895662;G/C missense_variant False IGLC2@p.N64del 1 0.118644068 ENSG00000211677 chr22:22901160-22901162;CAA/- inframe_deletion False IGLV4-3@p.R84C 1 0.068181818 ENSG00000211672 chr22:22871914-22871914;C/T missense_variant False IGLC2@p.A51V 1 0.142857143 ENSG00000211677 chr22:22901126-22901126;C/T missense_variant False IGKV6D-41@p.Q44Rfs*? 1 0.186046512 ENSG00000211626 chr2:90070022-90070022;C/- frameshift_variant False IGKV6D-41@p.G50S 1 0.230769231 ENSG00000211626 chr2:90070041-90070041;G/A missense_variant False IGKV6D-21@p.P15S 1 0.45 ENSG00000225523 chr2:90021676-90021676;C/T missense_variant False IGKV6D-21@p.G85V 1 0.509615385 ENSG00000225523 chr2:90022097-90022097;G/T missense_variant False IGKV6-21@p.E100K 1 0.46 ENSG00000211611 chr2:89159795-89159795;C/T missense_variant False IGLV1-40@p.S28L 1 0.22147651 ENSG00000211653 chr22:22410009-22410009;C/T missense_variant False IGLV1-44@p.I68M 1 0.520833333 ENSG00000211651 chr22:22381198-22381198;C/G missense_variant False IGLV1-50@p.P33L 1 0.136363636 ENSG00000211645 chr22:22327558-22327558;C/T missense_variant False IGLV11-55@p.D76H 1 0.196850394 ENSG00000211641 chr22:22202018-22202018;G/C missense_variant False IGLV11-55@p.G50S 1 0.537037037 ENSG00000211641 chr22:22201940-22201940;G/A missense_variant False IGLV11-55@p.S75A 1 0.087912088 ENSG00000211641 chr22:22202015-22202015;T/G missense_variant False IGLV2-14@p.S77L 1 0.103202847 ENSG00000211666 chr22:22759087-22759087;C/T missense_variant False IGLV2-18@p.Y108H 1 0.132075472 ENSG00000211664 chr22:22735057-22735057;T/C missense_variant False IGLV2-8@p.G89D 1 0.116477273 ENSG00000278196 chr22:22823201-22823201;G/A missense_variant False IGLV2-8@p.M68I 1 0.422264875 ENSG00000278196 chr22:22823139-22823139;G/A missense_variant False IGLV2-8@p.N52K 1 0.100446429 ENSG00000278196 chr22:22823091-22823091;C/A missense_variant False IGLV2-8@p.Q59R 1 0.296052632 ENSG00000278196 chr22:22823111-22823111;A/G missense_variant False IGLV3-10@p.E78K 1 0.169230769 ENSG00000211669 chr22:22812166-22812166;G/A missense_variant False IGLV3-10@p.S111T 1 0.513513514 ENSG00000211669 chr22:22812266-22812266;G/C missense_variant False IGLV3-27@p.S108F 1 0.404761905 ENSG00000211658 chr22:22668790-22668790;C/T missense_variant False IGLV3-9@p.T88M 1 0.215053763 ENSG00000211670 chr22:22819673-22819673;C/T missense_variant False IGLV4-3@p.P26S 1 0.614035088 ENSG00000211672 chr22:22871740-22871740;C/T missense_variant False IGHV3-21@p.S52N 1 0.090909091 ENSG00000211947 chr14:106235260-106235260;C/T missense_variant False IGHV3-20@p.S54R 1 0.102362205 ENSG00000211946 chr14:106211127-106211127;G/C missense_variant False IGHV3-16@p.W7R 1 0.144736842 ENSG00000211944 chr14:106165638-106165638;A/T missense_variant False IGF2@p.R120C 1 0.230769231 ENSG00000167244 chr11:2133633-2133633;G/A missense_variant False IGF2BP1@p.S127C 1 0.101910828 ENSG00000159217 chr17:49031952-49031952;C/G missense_variant False IGF2BP1@p.R178H 1 0.452380952 ENSG00000159217 chr17:49038299-49038299;G/A missense_variant False IGF2BP1@p.P403A 1 0.258928571 ENSG00000159217 chr17:49043973-49043973;C/G missense_variant False IGF2BP1@p.I70T 1 0.675324675 ENSG00000159217 chr17:48999142-48999142;T/C missense_variant False IGF2BP1@p.I136M 1 0.175 ENSG00000159217 chr17:49038174-49038174;C/G missense_variant False IGF2BP1@p.F33L 1 0.104347826 ENSG00000159217 chr17:48997844-48997844;C/G missense_variant False IGF2@p.L217V 1 0.207407407 ENSG00000167244 chr11:2133049-2133049;G/C missense_variant False IGF1R@p.E484Gfs*6 1 0.173913043 ENSG00000140443 chr15:98908883-98908884;-/G frameshift_variant False IGF2@p.L189V 1 0.375 ENSG00000167244 chr11:2133133-2133133;G/C missense_variant False IGF1R@p.T104M 1 0.222222222 ENSG00000140443 chr15:98707778-98707778;C/T missense_variant False IGF1R@p.S664F 1 0.296703297 ENSG00000140443 chr15:98916126-98916126;C/T missense_variant False IGF1R@p.K672T 1 0.295774648 ENSG00000140443 chr15:98916690-98916690;A/C missense_variant False IGF1R@p.I848V 1 0.471698113 ENSG00000140443 chr15:98923932-98923932;A/G missense_variant False IGF1R@p.G697R 1 0.5 ENSG00000140443 chr15:98916764-98916764;G/A missense_variant False IGF2BP2@p.L366F 1 0.40625 ENSG00000073792 chr3:185672643-185672643;C/G missense_variant False IGF2BP2@p.R455K 1 0.307692308 ENSG00000073792 chr3:185657308-185657308;C/T missense_variant False IGF2BP2@p.S175F 1 0.341772152 ENSG00000073792 chr3:185689508-185689508;G/A missense_variant False IGF2BP2@p.S187C 1 0.119047619 ENSG00000073792 chr3:185689472-185689472;G/C missense_variant False IGF2BP3@p.E275K 1 0.151162791 ENSG00000136231 chr7:23346058-23346058;C/T missense_variant False IGF2BP3@p.G175R 1 0.2 ENSG00000136231 chr7:23351465-23351465;C/G missense_variant False IGF2BP3@p.R348K 1 0.134751773 ENSG00000136231 chr7:23343752-23343752;C/T missense_variant False IGF2BP3@p.S117L 1 0.281818182 ENSG00000136231 chr7:23361585-23361585;G/A missense_variant False IGF2BP3@p.S227C 1 0.222222222 ENSG00000136231 chr7:23351308-23351308;G/C missense_variant False IGF2R@p.C134R 1 0.5 ENSG00000197081 chr6:160009120-160009120;T/C missense_variant False IGF2R@p.E1881Q 1 0.637931034 ENSG00000197081 chr6:160079742-160079742;G/C missense_variant False IGF2R@p.G960A 1 0.12371134 ENSG00000197081 chr6:160058105-160058105;G/C missense_variant False IGF2R@p.P141T 1 0.212765957 ENSG00000197081 chr6:160010693-160010693;C/A missense_variant False IGF2R@p.R529Q 1 0.183823529 ENSG00000197081 chr6:160043253-160043253;G/A missense_variant False IGF2R@p.S99C 1 0.305882353 ENSG00000197081 chr6:160009016-160009016;C/G missense_variant False IGF2R@p.T1861Gfs*18 1 0.259259259 ENSG00000197081 chr6:160079682-160079689;ACCAAGGG/- frameshift_variant False IGF2R@p.V1109D 1 0.047945205 ENSG00000197081 chr6:160061566-160061566;T/A missense_variant False IGF1R@p.E94K 1 0.095890411 ENSG00000140443 chr15:98707747-98707747;G/A missense_variant False IGF1R@p.E272Q 1 0.34375 ENSG00000140443 chr15:98891498-98891498;G/C missense_variant False IGFBP1@p.E133K 1 0.120689655 ENSG00000146678 chr7:45890595-45890595;G/A missense_variant False IFT81@p.Q577E 1 0.243816254 ENSG00000122970 chr12:110205607-110205607;C/G missense_variant False IFTAP@p.R88C 1 0.260869565 ENSG00000166352 chr11:36633409-36633409;C/T missense_variant False IFTAP@p.H71Y 1 0.206896552 ENSG00000166352 chr11:36633358-36633358;C/T missense_variant False IFT88@p.I307V 1 0.192307692 ENSG00000032742 chr13:20601784-20601784;A/G missense_variant False IFT88@p.E730Q 1 0.288461538 ENSG00000032742 chr13:20663590-20663590;G/C missense_variant False IFT88@p.E572K 1 0.214285714 ENSG00000032742 chr13:20643459-20643459;G/A missense_variant False IFT88@p.D489H 1 0.096774194 ENSG00000032742 chr13:20638383-20638383;G/C missense_variant False IFT81@p.M276I 1 0.2 ENSG00000122970 chr12:110143428-110143428;G/A missense_variant False IGF1R@p.A371D 1 0.313432836 ENSG00000140443 chr15:98899486-98899486;C/A missense_variant False IFT81@p.L618F 1 0.15 ENSG00000122970 chr12:110218047-110218047;C/T missense_variant False IFT81@p.I350M 1 0.589285714 ENSG00000122970 chr12:110162927-110162927;C/G missense_variant False IFT81@p.E527Q 1 0.2 ENSG00000122970 chr12:110203885-110203885;G/C missense_variant False IFT81@p.E390K 1 0.12 ENSG00000122970 chr12:110163045-110163045;G/A missense_variant False IFT81@p.E313Q 1 0.16 ENSG00000122970 chr12:110143537-110143537;G/C missense_variant False IFT81@p.D583H 1 0.279661017 ENSG00000122970 chr12:110205625-110205625;G/C missense_variant False IGBP1@p.Q39R 1 0.108695652 ENSG00000089289 chrX:70134063-70134063;A/G missense_variant False IGBP1@p.S35F 1 0.268656716 ENSG00000089289 chrX:70134051-70134051;C/T missense_variant False IGBP1P2@p.A154T 1 0.184615385 None chr17:58661140-58661140;C/T missense_variant False IGBP1P2@p.A288S 1 0.477088949 None chr17:58660738-58660738;C/A missense_variant False IGBP1P2@p.E127Q 1 0.20754717 None chr17:58661221-58661221;C/G missense_variant False IGBP1P2@p.Q302R 1 0.067391304 None chr17:58660695-58660695;T/C missense_variant False IGDCC3@p.G758S 1 0.214285714 ENSG00000174498 chr15:65329082-65329082;C/T missense_variant False IGDCC3@p.R200G 1 0.675 ENSG00000174498 chr15:65335378-65335378;G/C missense_variant False IGDCC3@p.S578F 1 0.382352941 ENSG00000174498 chr15:65330570-65330570;G/A missense_variant False IGDCC4@p.D1111N 1 0.478723404 ENSG00000103742 chr15:65384965-65384965;C/T missense_variant False IGDCC4@p.F934L 1 0.258426966 ENSG00000103742 chr15:65388492-65388492;G/C missense_variant False IGDCC4@p.G510A 1 0.118421053 ENSG00000103742 chr15:65395141-65395141;C/G missense_variant False IGDCC4@p.G510E 1 0.230769231 ENSG00000103742 chr15:65395141-65395141;C/T missense_variant False IGDCC4@p.R1086W 1 0.275862069 ENSG00000103742 chr15:65385040-65385040;G/A missense_variant False IGDCC4@p.S235F 1 0.311320755 ENSG00000103742 chr15:65400943-65400943;G/A missense_variant False IGF1@p.A36V 1 0.565217391 ENSG00000017427 chr12:102475756-102475756;G/A missense_variant False IGF1@p.P153T 1 0.101449275 ENSG00000017427 chr12:102417949-102417949;G/T missense_variant False IGF2R@p.W1446C 1 0.214285714 ENSG00000197081 chr6:160069953-160069953;G/C missense_variant False IGFBP1@p.E185K 1 0.6875 ENSG00000146678 chr7:45891965-45891965;G/A missense_variant False IGHV3-16@p.R104K 1 0.114864865 ENSG00000211944 chr14:106165245-106165245;C/T missense_variant False IGHG4@p.M132I 1 0.196721311 ENSG00000211892 chr14:105625161-105625161;C/T missense_variant False IGHV1-18@p.P33L 1 0.733766234 ENSG00000211945 chr14:106185154-106185154;G/A missense_variant False IGHMBP2@p.S421N 1 0.347826087 ENSG00000132740 chr11:68933325-68933325;G/A missense_variant False IGHMBP2@p.G266E 1 0.142857143 ENSG00000132740 chr11:68914908-68914908;G/A missense_variant False IGHMBP2@p.E593G 1 0.074688797 ENSG00000132740 chr11:68936258-68936258;A/G missense_variant False IGHM@p.R120H 1 0.625 ENSG00000211899 chr14:105855770-105855770;C/T missense_variant False IGHG4@p.Y180N 1 0.130530973 ENSG00000211892 chr14:105625019-105625019;A/T missense_variant False IGHG4@p.I133F 1 0.208333333 ENSG00000211892 chr14:105625160-105625160;T/A missense_variant False IGHG3@p.D331E 1 0.180216802 ENSG00000211897 chr14:105769378-105769378;G/T missense_variant False IGHG4@p.G49Afs*21 1 0.137254902 ENSG00000211892 chr14:105625921-105625921;C/- frameshift_variant False IGHG4@p.E310Q 1 0.176470588 ENSG00000211892 chr14:105624532-105624532;C/G missense_variant False IGHG4@p.E237D 1 0.088028169 ENSG00000211892 chr14:105624749-105624749;C/G missense_variant False IGHG3@p.T229M 1 0.304093567 ENSG00000211897 chr14:105769782-105769782;G/A missense_variant False IGHG3@p.S19F 1 0.148148148 ENSG00000211897 chr14:105771351-105771351;G/A missense_variant False IGHG3@p.P436S 1 0.054263566 ENSG00000211897 chr14:105765949-105765949;G/A missense_variant False IGHV1-18@p.S36L 1 0.504273504 ENSG00000211945 chr14:106185145-106185145;G/A missense_variant False IGHV1-45@p.A63S 1 0.460784314 ENSG00000211961 chr14:106507162-106507162;C/A missense_variant False IGHV1-46@p.M67I 1 0.606382979 ENSG00000211962 chr14:106511267-106511267;C/T missense_variant False IGHV1-46@p.Q81R 1 0.043478261 ENSG00000211962 chr14:106511226-106511226;T/C missense_variant False IGHV1-46@p.T95M 1 0.171014493 ENSG00000211962 chr14:106511184-106511184;G/A missense_variant False IGHV1OR15-9@p.V116L 1 0.167910448 ENSG00000188403 chr15:19964673-19964673;C/A missense_variant False IGHV1OR15-9@p.Y51C 1 0.221052632 ENSG00000188403 chr15:19964867-19964867;T/C missense_variant False IGHV1OR21-1@p.E108K 1 0.067307692 ENSG00000277282 chr21:10649431-10649431;C/T missense_variant False IGHV1OR21-1@p.E65Q 1 0.101449275 ENSG00000277282 chr21:10649560-10649560;C/G missense_variant False IGHV1OR21-1@p.S107Y 1 0.090293454 ENSG00000277282 chr21:10649433-10649433;G/T missense_variant False IGHV1OR21-1@p.T88N 1 0.136538462 ENSG00000277282 chr21:10649490-10649490;G/T missense_variant False IGHV1OR21-1@p.W5C 1 0.187311178 ENSG00000277282 chr21:10649821-10649821;C/G missense_variant False IGHV2-5@p.A65T 1 0.073170732 ENSG00000211937 chr14:106038067-106038067;C/T missense_variant False IGHV3-11@p.E108K 1 0.260416667 ENSG00000211941 chr14:106116666-106116666;C/T missense_variant False IGHV3-13@p.G27R 1 0.405172414 ENSG00000211942 chr14:106129811-106129811;C/G missense_variant False IGHV3-15@p.E65Q 1 0.04587156 ENSG00000211943 chr14:106153788-106153788;C/G missense_variant False IGHV3-15@p.K32Q 1 0.291666667 ENSG00000211943 chr14:106153887-106153887;T/G missense_variant False IGHG3@p.F205L 1 0.138728324 ENSG00000211897 chr14:105769853-105769853;G/T missense_variant False IGHG2@p.T135N 1 0.5 ENSG00000211893 chr14:105643877-105643877;G/T missense_variant False IGFBP1@p.E192Q 1 0.348837209 ENSG00000146678 chr7:45891986-45891986;G/C missense_variant False IGFL1@p.E79Q 1 0.210810811 ENSG00000188293 chr19:46230429-46230429;G/C missense_variant False IGFN1@p.G687D 1 0.285714286 ENSG00000163395 chr1:201216589-201216589;G/A missense_variant False IGFN1@p.D531N 1 0.314285714 ENSG00000163395 chr1:201215121-201215121;G/A missense_variant False IGFLR1@p.E151G 1 0.416666667 ENSG00000126246 chr19:35739979-35739979;T/C missense_variant False IGFL4@p.W69C 1 0.317647059 ENSG00000204869 chr19:46040280-46040280;C/A missense_variant False IGFL4@p.L56F 1 0.45 ENSG00000204869 chr19:46040319-46040319;C/G missense_variant False IGFL3@p.W13C 1 0.193548387 ENSG00000188624 chr19:46124308-46124308;C/A missense_variant False IGFL1@p.E79K 1 0.183333333 ENSG00000188293 chr19:46230429-46230429;G/A missense_variant False IGHG2@p.R180H 1 0.055045872 ENSG00000211893 chr14:105643742-105643742;C/T missense_variant False IGFBPL1@p.W227C 1 0.414634146 ENSG00000137142 chr9:38413243-38413243;C/A missense_variant False IGFBP7@p.G244A 1 0.128205128 ENSG00000163453 chr4:57032524-57032524;C/G missense_variant False IGFBP6@p.L185F 1 0.551020408 ENSG00000167779 chr12:53101113-53101113;C/T missense_variant False IGFBP4@p.S255N 1 0.262295082 ENSG00000141753 chr17:40456570-40456570;G/A missense_variant False IGFBP3@p.K176N 1 0.307086614 ENSG00000146674 chr7:45917315-45917315;C/G missense_variant False IGFBP1@p.I155V 1 0.590909091 ENSG00000146678 chr7:45890661-45890661;A/G missense_variant False IGHA1@p.E318K 1 0.12 ENSG00000211895 chr14:105707278-105707278;C/T missense_variant False IGHA1@p.F311L 1 0.238095238 ENSG00000211895 chr14:105707297-105707297;G/T missense_variant False IGHA1@p.G45R 1 0.525 ENSG00000211895 chr14:105708533-105708533;C/T missense_variant False IGHA1@p.I297M 1 0.049751244 ENSG00000211895 chr14:105707339-105707339;T/C missense_variant False IGHA1@p.K200N 1 0.111111111 ENSG00000211895 chr14:105707852-105707852;C/G missense_variant False IGHA2@p.R164H 1 0.321428571 ENSG00000211890 chr14:105587691-105587691;C/T missense_variant False IGHE@p.D122N 1 0.315789474 ENSG00000211891 chr14:105601158-105601158;C/T missense_variant False IGHE@p.E353Q 1 0.3 ENSG00000211891 chr14:105600296-105600296;C/G missense_variant False IGHG1@p.E313Q 1 0.130081301 ENSG00000211896 chr14:105741529-105741529;C/G missense_variant False IGHG1@p.G49S 1 0.428571429 ENSG00000211896 chr14:105742927-105742927;C/T missense_variant False IGHG1@p.P174L 1 0.207119741 ENSG00000211896 chr14:105742042-105742042;G/A missense_variant False IGHG1@p.R138Q 1 0.145985401 ENSG00000211896 chr14:105742150-105742150;C/T missense_variant False IGHG1@p.T18S 1 0.296296296 ENSG00000211896 chr14:105743020-105743020;T/A missense_variant False IGHG1@p.W160S 1 0.29022082 ENSG00000211896 chr14:105742084-105742084;C/G missense_variant False IGHG2@p.A45T 1 0.192307692 ENSG00000211893 chr14:105644658-105644658;C/T missense_variant False IGHG2@p.D159Y 1 0.097222222 ENSG00000211893 chr14:105643806-105643806;C/A missense_variant False IGHG2@p.K4N 1 0.379310345 ENSG00000211893 chr14:105644779-105644779;C/G missense_variant False HYAL3@p.R186W 1 0.384615385 ENSG00000243477 chr3:50295047-50295047;G/A missense_variant False HYAL2@p.R143H 1 0.195121951 ENSG00000068001 chr3:50320062-50320062;C/T missense_variant False IGSF11@p.D83H 1 0.107142857 ENSG00000144847 chr3:118928686-118928686;C/G missense_variant False HS3ST3A1@p.G403C 1 0.454545455 ENSG00000153976 chr17:13496211-13496211;C/A missense_variant False HS3ST5@p.E211Q 1 0.125581395 ENSG00000249853 chr6:114057667-114057667;C/G missense_variant False HS3ST4@p.S296F 1 0.096774194 ENSG00000182601 chr16:26135764-26135764;C/T missense_variant False HS3ST4@p.K433Nfs*5 1 0.303030303 ENSG00000182601 chr16:26136174-26136174;A/- frameshift_variant False HS3ST4@p.K317Q 1 0.306896552 ENSG00000182601 chr16:26135826-26135826;A/C missense_variant False HS3ST3B1@p.E169K 1 0.307692308 ENSG00000125430 chr17:14302023-14302023;G/A missense_variant False HS3ST3A1@p.K393N 1 0.275362319 ENSG00000153976 chr17:13496239-13496239;C/G missense_variant False HS3ST3A1@p.D244N 1 0.065217391 ENSG00000153976 chr17:13496688-13496688;C/T missense_variant False HS3ST5@p.L90I 1 0.111111111 ENSG00000249853 chr6:114058030-114058030;G/T missense_variant False HS3ST2@p.S27L 1 0.375 ENSG00000122254 chr16:22814690-22814690;C/T missense_variant False HS3ST2@p.R54C 1 0.157894737 ENSG00000122254 chr16:22814770-22814770;C/T missense_variant False HS2ST1@p.R63W 1 0.454545455 ENSG00000153936 chr1:87072996-87072996;C/T missense_variant False HS2ST1@p.E35Q 1 0.198113208 ENSG00000153936 chr1:86915139-86915139;G/C missense_variant False HS2ST1@p.E212Q 1 0.314285714 ENSG00000153936 chr1:87097883-87097883;G/C missense_variant False HS1BP3@p.E179Q 1 0.117647059 ENSG00000118960 chr2:20638524-20638524;C/G missense_variant False HS3ST5@p.E79Q 1 0.162790698 ENSG00000249853 chr6:114058063-114058063;C/G missense_variant False HS3ST6@p.A222D 1 0.333333333 ENSG00000162040 chr16:1911954-1911954;G/T missense_variant False HSP90AB1@p.S535L 1 0.306122449 ENSG00000096384 chr6:44252140-44252140;C/T missense_variant False HSCB@p.D29Y 1 0.222222222 ENSG00000100209 chr22:28742180-28742180;G/T missense_variant False HSD17B12@p.T59A 1 0.12 ENSG00000149084 chr11:43750925-43750925;A/G missense_variant False HSD17B12@p.G121S 1 0.52238806 ENSG00000149084 chr11:43798397-43798397;G/A missense_variant False HSD17B11@p.P28A 1 0.289473684 ENSG00000198189 chr4:87390989-87390989;G/C missense_variant False HSD11B2@p.P181S 1 0.326086957 ENSG00000176387 chr16:67436019-67436019;C/T missense_variant False HSD11B2@p.D244Y 1 0.385650224 ENSG00000176387 chr16:67436314-67436314;G/T missense_variant False HSCB@p.L215F 1 0.305732484 ENSG00000100209 chr22:28757106-28757106;G/C missense_variant False HSBP1@p.D40H 1 0.4 ENSG00000230989 chr16:83809310-83809310;G/C missense_variant False HS6ST1@p.E376K 1 0.359375 ENSG00000136720 chr2:128268272-128268272;C/T missense_variant False HSBP1@p.D25H 1 0.344827586 ENSG00000230989 chr16:83808707-83808707;G/C missense_variant False HS6ST3@p.I222M 1 0.642857143 ENSG00000185352 chr13:96091528-96091528;C/G missense_variant False HS6ST3@p.E297Q 1 0.144927536 ENSG00000185352 chr13:96832671-96832671;G/C missense_variant False HS6ST2@p.R207C 1 0.294117647 ENSG00000171004 chrX:132957136-132957136;G/A missense_variant False HS6ST2@p.I453F 1 0.794871795 ENSG00000171004 chrX:132628684-132628684;T/A missense_variant False HS6ST1@p.S207L 1 0.1625 ENSG00000136720 chr2:128268778-128268778;G/A missense_variant False HROB@p.D631H 1 0.158730159 ENSG00000125319 chr17:44161879-44161879;G/C missense_variant False HRNR@p.T1082I 1 0.267206478 ENSG00000197915 chr1:152218384-152218384;G/A missense_variant False HRNR@p.S449P 1 0.052631579 ENSG00000197915 chr1:152220284-152220284;A/G missense_variant False HRH3@p.K338N 1 0.523809524 ENSG00000101180 chr20:62216330-62216330;C/A missense_variant False HRNR@p.F127L 1 0.151041667 ENSG00000197915 chr1:152221248-152221248;A/T missense_variant False HRH4@p.L96V 1 0.214285714 ENSG00000134489 chr18:24468880-24468880;C/G missense_variant False HRH4@p.I29V 1 0.615384615 ENSG00000134489 chr18:24460813-24460813;A/G missense_variant False HRH3@p.S182dup 1 0.427184466 ENSG00000101180 chr20:62216800-62216801;-/GCT inframe_insertion False HRH3@p.R232W 1 0.375 ENSG00000101180 chr20:62216650-62216650;G/A missense_variant False HRH3@p.K358N 1 0.227272727 ENSG00000101180 chr20:62216270-62216270;C/A missense_variant False HRH2@p.S316Y 1 0.488188976 ENSG00000113749 chr5:175684180-175684180;C/A missense_variant False HRNR@p.S320C 1 0.179640719 ENSG00000197915 chr1:152220670-152220670;G/C missense_variant False HRH1@p.S70L 1 0.5 ENSG00000196639 chr3:11259246-11259246;C/T missense_variant False HRH1@p.R143Q 1 0.189655172 ENSG00000196639 chr3:11259465-11259465;G/A missense_variant False HRH1@p.K212N 1 0.146496815 ENSG00000196639 chr3:11259673-11259673;G/C missense_variant False HRH1@p.F209L 1 0.055276382 ENSG00000196639 chr3:11259664-11259664;C/G missense_variant False HRH1@p.E292K 1 0.055172414 ENSG00000196639 chr3:11259911-11259911;G/A missense_variant False HRH1@p.D354N 1 0.411764706 ENSG00000196639 chr3:11260097-11260097;G/A missense_variant False HRNR@p.G1888E 1 0.102807971 ENSG00000197915 chr1:152215966-152215966;C/T missense_variant False HRNR@p.G2024A 1 0.19843342 ENSG00000197915 chr1:152215558-152215558;C/G missense_variant False HRNR@p.G2797R 1 0.092165899 ENSG00000197915 chr1:152213240-152213240;C/G missense_variant False HRNR@p.G512D 1 0.336708861 ENSG00000197915 chr1:152220094-152220094;C/T missense_variant False HRNR@p.G676S 1 0.40647482 ENSG00000197915 chr1:152219603-152219603;C/T missense_variant False HRNR@p.H260Q 1 0.3 ENSG00000197915 chr1:152220849-152220849;G/T missense_variant False HRNR@p.L148V 1 0.330232558 ENSG00000197915 chr1:152221187-152221187;G/C missense_variant False HRNR@p.P1979T 1 0.102505695 ENSG00000197915 chr1:152215694-152215694;G/T missense_variant False HRNR@p.P560Q 1 0.174129353 ENSG00000197915 chr1:152219950-152219950;G/T missense_variant False HRNR@p.Q2395H 1 0.130111524 ENSG00000197915 chr1:152214444-152214444;C/G missense_variant False HRNR@p.S1081C 1 0.238866397 ENSG00000197915 chr1:152218387-152218387;G/C missense_variant False HRNR@p.S1824C 1 0.115384615 ENSG00000197915 chr1:152216158-152216158;G/C missense_variant False HRNR@p.S189Y 1 0.201834862 ENSG00000197915 chr1:152221063-152221063;G/T missense_variant False HRNR@p.S2091C 1 0.072847682 ENSG00000197915 chr1:152215357-152215357;G/C missense_variant False HRNR@p.S2094T 1 0.11627907 ENSG00000197915 chr1:152215348-152215348;C/G missense_variant False HRNR@p.S2138F 1 0.037479631 ENSG00000197915 chr1:152215216-152215216;G/A missense_variant False HRNR@p.S316L 1 0.433333333 ENSG00000197915 chr1:152220682-152220682;G/A missense_variant False HSD17B13@p.E136D 1 0.219178082 ENSG00000170509 chr4:87317134-87317134;C/A missense_variant False HSD17B13@p.E136K 1 0.393939394 ENSG00000170509 chr4:87317136-87317136;C/T missense_variant False HSD17B13@p.R197T 1 0.48 ENSG00000170509 chr4:87313928-87313928;C/G missense_variant False HSF4@p.R258K 1 0.282608696 ENSG00000102878 chr16:67167518-67167518;G/A missense_variant False HSP90AA1@p.D350H 1 0.184210526 ENSG00000080824 chr14:102084498-102084498;C/G missense_variant False HSP90AA1@p.A161P 1 0.698113208 ENSG00000080824 chr14:102085806-102085806;C/G missense_variant False HSH2D@p.G214D 1 0.140625 ENSG00000196684 chr19:16157376-16157376;G/A missense_variant False HSF5@p.S453C 1 0.234848485 ENSG00000176160 chr17:58462966-58462966;G/C missense_variant False HSF5@p.S384C 1 0.490196078 ENSG00000176160 chr17:58463173-58463173;G/C missense_variant False HSF5@p.E47K 1 0.1875 ENSG00000176160 chr17:58488136-58488136;C/T missense_variant False HSF4@p.F63L 1 0.396946565 ENSG00000102878 chr16:67165587-67165587;C/G missense_variant False HSF1@p.R106C 1 0.35978836 ENSG00000185122 chr8:144309544-144309544;C/T missense_variant False HSF4@p.E430Q 1 0.285714286 ENSG00000102878 chr16:67169312-67169312;G/C missense_variant False HSF2BP@p.D40Y 1 0.143939394 ENSG00000160207 chr21:43656656-43656656;C/A missense_variant False HSF2@p.S276C 1 0.201680672 ENSG00000025156 chr6:122422295-122422295;C/G missense_variant False HSF2@p.F96L 1 0.041916168 ENSG00000025156 chr6:122412722-122412722;C/G missense_variant False HSF2@p.E19Q 1 0.089552239 ENSG00000025156 chr6:122399792-122399792;G/C missense_variant False HSF2@p.D345N 1 0.206521739 ENSG00000025156 chr6:122422920-122422920;G/A missense_variant False HSP90AA1@p.D390N 1 0.64516129 ENSG00000080824 chr14:102083963-102083963;C/T missense_variant False HSP90AA1@p.D66Y 1 0.279279279 ENSG00000080824 chr14:102086091-102086091;C/A missense_variant False HSP90AA1@p.E205D 1 0.156862745 ENSG00000080824 chr14:102085346-102085346;C/G missense_variant False HSP90AA1@p.E237Q 1 0.695652174 ENSG00000080824 chr14:102084953-102084953;C/G missense_variant False HSP90AA1@p.E43K 1 0.6 ENSG00000080824 chr14:102139278-102139278;C/T missense_variant False HSP90AA1@p.E517K 1 0.091666667 ENSG00000080824 chr14:102083240-102083240;C/T missense_variant False HSP90AA1@p.E584K 1 0.507246377 ENSG00000080824 chr14:102083039-102083039;C/T missense_variant False HSP90AA1@p.G215A 1 0.105263158 ENSG00000080824 chr14:102085317-102085317;C/G missense_variant False HSP90AA1@p.K558R 1 0.375 ENSG00000080824 chr14:102083116-102083116;T/C missense_variant False HSP90AA1@p.L32F 1 0.271028037 ENSG00000080824 chr14:102086283-102086283;C/G missense_variant False HSP90AA1@p.R367T 1 0.111111111 ENSG00000080824 chr14:102084446-102084446;C/G missense_variant False HSP90AA1@p.S129F 1 0.049019608 ENSG00000080824 chr14:102085901-102085901;G/A missense_variant False HSP90AA1@p.S140C 1 0.493150685 ENSG00000080824 chr14:102085868-102085868;G/C missense_variant False HSP90AA1@p.S726L 1 0.607843137 ENSG00000080824 chr14:102081734-102081734;G/A missense_variant False HSP90AB1@p.D529N 1 0.387755102 ENSG00000096384 chr6:44252121-44252121;G/A missense_variant False HSP90AB1@p.E251K 1 0.153846154 ENSG00000096384 chr6:44250393-44250393;G/A missense_variant False HSP90AB1@p.I684M 1 0.238095238 ENSG00000096384 chr6:44253365-44253365;C/G missense_variant False HSF1@p.S250C 1 0.20746888 ENSG00000185122 chr8:144311725-144311725;C/G missense_variant False HSF1@p.E300Q 1 0.260869565 ENSG00000185122 chr8:144312000-144312000;G/C missense_variant False HSD17B14@p.E100K 1 0.209302326 ENSG00000087076 chr19:48831739-48831739;C/T missense_variant False HSD17B4@p.E437K 1 0.194805195 ENSG00000133835 chr5:119502065-119502065;G/A missense_variant False HSD17B6@p.S163C 1 0.16 ENSG00000025423 chr12:56782148-56782148;C/G missense_variant False HSD17B6@p.P118L 1 0.20212766 ENSG00000025423 chr12:56782013-56782013;C/T missense_variant False HSD17B4@p.S634P 1 0.133333333 ENSG00000133835 chr5:119529951-119529951;T/C missense_variant False HSD17B4@p.L197V 1 0.344537815 ENSG00000133835 chr5:119478913-119478913;C/G missense_variant False HSD17B4@p.K669N 1 0.5 ENSG00000133835 chr5:119531343-119531343;G/T missense_variant False HSD17B4@p.H337Y 1 0.465909091 ENSG00000133835 chr5:119496608-119496608;C/T missense_variant False HSD17B3@p.F286L 1 1.0 ENSG00000130948 chr9:96235535-96235535;G/C missense_variant False HSF1@p.E128K 1 0.112554113 ENSG00000185122 chr8:144309790-144309790;G/A missense_variant False HSD17B2@p.S244L 1 0.387755102 ENSG00000086696 chr16:82090968-82090968;C/T missense_variant False HSD17B2@p.K281R 1 0.558823529 ENSG00000086696 chr16:82098114-82098114;A/G missense_variant False HSD17B2@p.E104K 1 0.325581395 ENSG00000086696 chr16:82068214-82068214;G/A missense_variant False HSD17B2@p.D176N 1 0.355263158 ENSG00000086696 chr16:82070989-82070989;G/A missense_variant False HSD17B1@p.T9S 1 0.927536232 ENSG00000108786 chr17:42552959-42552959;C/G missense_variant False HSD17B14@p.P153S 1 0.354166667 ENSG00000087076 chr19:48815054-48815054;G/A missense_variant False HSD17B7@p.R251C 1 0.164179104 ENSG00000132196 chr1:162804270-162804270;C/T missense_variant False HSD17B8@p.E231K 1 0.137254902 ENSG00000204228 chr6:33206173-33206173;G/A missense_variant False HSD17B8@p.Q136E 1 0.217391304 ENSG00000204228 chr6:33205465-33205465;C/G missense_variant False HSD17B8@p.Q4E 1 0.219512195 ENSG00000204228 chr6:33204678-33204678;C/G missense_variant False HSD17B8@p.S94C 1 0.092592593 ENSG00000204228 chr6:33205231-33205231;C/G missense_variant False HSD3B1@p.H262Y 1 0.676190476 ENSG00000203857 chr1:119514307-119514307;C/T missense_variant False HSD3B1@p.Q17H 1 0.294871795 ENSG00000203857 chr1:119507527-119507527;G/C missense_variant False HSD3B1@p.Q241L 1 0.125 ENSG00000203857 chr1:119514245-119514245;A/T missense_variant False HSD3B2@p.D61H 1 0.25 ENSG00000203859 chr1:119419456-119419456;G/C missense_variant False HSD3B2@p.E25Q 1 0.184466019 ENSG00000203859 chr1:119415492-119415492;G/C missense_variant False HSD3B2@p.E41K 1 0.681818182 ENSG00000203859 chr1:119415540-119415540;G/A missense_variant False HSD3B2@p.L337V 1 0.241935484 ENSG00000203859 chr1:119422510-119422510;C/G missense_variant False HSDL1@p.P135T 1 0.189393939 ENSG00000103160 chr16:84130249-84130249;G/T missense_variant False HSDL2@p.E297Q 1 0.166666667 ENSG00000119471 chr9:112454036-112454036;G/C missense_variant False HSDL2@p.H147Y 1 0.209302326 ENSG00000119471 chr9:112416884-112416884;C/T missense_variant False HSDL2@p.K198T 1 0.3125 ENSG00000119471 chr9:112418953-112418953;A/C missense_variant False HSF1@p.D386N 1 0.163265306 ENSG00000185122 chr8:144313524-144313524;G/A missense_variant False HRG@p.S76L 1 0.44 ENSG00000113905 chr3:186668978-186668978;C/T missense_variant False HRG@p.P316L 1 0.159090909 ENSG00000113905 chr3:186677252-186677252;C/T missense_variant False HRG@p.P262H 1 0.434782609 ENSG00000113905 chr3:186677090-186677090;C/A missense_variant False HOXD12@p.P157S 1 0.348484848 ENSG00000170178 chr2:176100270-176100270;C/T missense_variant False HOXD3@p.P299L 1 0.243243243 ENSG00000128652 chr2:176171871-176171871;C/T missense_variant False HOXD1@p.N235_L241del 1 0.083769634 ENSG00000128645 chr2:176189857-176189877;GAATTTCAGCACCAAGCAACT/- inframe_deletion False HOXD1@p.M282I 1 0.490740741 ENSG00000128645 chr2:176190001-176190001;G/A missense_variant False HOXD1@p.K283R 1 0.135802469 ENSG00000128645 chr2:176190003-176190003;A/G missense_variant False HOXD13@p.H202Y 1 0.217948718 ENSG00000128714 chr2:176093494-176093494;C/T missense_variant False HOXD13@p.E217K 1 0.858695652 ENSG00000128714 chr2:176093539-176093539;G/A missense_variant False HOXD12@p.M255I 1 0.218181818 ENSG00000170178 chr2:176100712-176100712;G/A missense_variant False HOXC8@p.R34S 1 0.24437299 ENSG00000037965 chr12:54009386-54009386;G/C missense_variant False HOXD11@p.R301W 1 0.373626374 ENSG00000128713 chr2:176109026-176109026;C/T missense_variant False HOXD11@p.E284K 1 0.072289157 ENSG00000128713 chr2:176108975-176108975;G/A missense_variant False HOXD10@p.M324I 1 0.19047619 ENSG00000128710 chr2:176119180-176119180;G/T missense_variant False HOXC9@p.S105T 1 0.444444444 ENSG00000180806 chr12:54000501-54000501;T/A missense_variant False HOXC9@p.R234W 1 0.096774194 ENSG00000180806 chr12:54002591-54002591;C/T missense_variant False HOXC9@p.D13N 1 0.4375 ENSG00000180806 chr12:54000225-54000225;G/A missense_variant False HOXD3@p.Y218C 1 0.075 ENSG00000128652 chr2:176171628-176171628;A/G missense_variant False HOXD4@p.E94Q 1 0.272727273 ENSG00000170166 chr2:176151913-176151913;G/C missense_variant False HOXD8@p.A102Pfs*32 1 0.709677419 ENSG00000175879 chr2:176130665-176130687;GCCCGGCCGCTGCCTACCAGGCC/- frameshift_variant False HOXD8@p.R197K 1 0.275 ENSG00000175879 chr2:176131329-176131329;G/A missense_variant False HOXD9@p.H281Y 1 0.189393939 ENSG00000128709 chr2:176123957-176123957;C/T missense_variant False HP1BP3@p.E101K 1 0.30044843 ENSG00000127483 chr1:20776646-20776646;C/T missense_variant False HP1BP3@p.E112Q 1 0.333333333 ENSG00000127483 chr1:20776613-20776613;C/G missense_variant False HP1BP3@p.E59K 1 0.175 ENSG00000127483 chr1:20779833-20779833;C/T missense_variant False HP1BP3@p.K526Efs*76 1 0.155737705 ENSG00000127483 chr1:20744884-20744885;-/T frameshift_variant False HP1BP3@p.T132Qfs*13 1 0.133333333 ENSG00000127483 chr1:20773567-20773567;T/- frameshift_variant False HPCA@p.R70C 1 0.245714286 ENSG00000121905 chr1:32889106-32889106;C/T missense_variant False HPCAL1@p.E18K 1 0.755102041 ENSG00000115756 chr2:10419809-10419809;G/A missense_variant False HPCAL1@p.E47K 1 0.244444444 ENSG00000115756 chr2:10419896-10419896;G/A missense_variant False HPCAL4@p.E106K 1 0.055555556 ENSG00000116983 chr1:39683999-39683999;C/T missense_variant False HPCAL4@p.Y52F 1 0.515151515 ENSG00000116983 chr1:39684449-39684449;T/A missense_variant False HPD@p.G53S 1 0.508196721 ENSG00000158104 chr12:121857369-121857369;C/T missense_variant False HPD@p.P189T 1 0.117117117 ENSG00000158104 chr12:121849030-121849030;G/T missense_variant False HOXC9@p.A88T 1 0.621212121 ENSG00000180806 chr12:54000450-54000450;G/A missense_variant False HOXC8@p.F59L 1 0.160377358 ENSG00000037965 chr12:54009461-54009461;C/G missense_variant False HPD@p.S293F 1 0.407407407 ENSG00000158104 chr12:121843786-121843786;G/A missense_variant False HOXB8@p.D31N 1 0.153846154 ENSG00000120068 chr17:48614614-48614614;C/T missense_variant False HOXC10@p.Q75K 1 0.117647059 ENSG00000180818 chr12:53985482-53985482;C/A missense_variant False HOXC10@p.Q311K 1 0.393442623 ENSG00000180818 chr12:53989348-53989348;C/A missense_variant False HOXB9@p.P29S 1 0.166666667 ENSG00000170689 chr17:48626185-48626185;G/A missense_variant False HOXB8@p.V76M 1 0.21875 ENSG00000120068 chr17:48614479-48614479;C/T missense_variant False HOXB8@p.E234K 1 0.302469136 ENSG00000120068 chr17:48613234-48613234;C/T missense_variant False HOXB8@p.E216K 1 0.165467626 ENSG00000120068 chr17:48613288-48613288;C/T missense_variant False HOXB7@p.G24E 1 0.336633663 ENSG00000260027 chr17:48610848-48610848;C/T missense_variant False HOXC8@p.E92K 1 0.24120603 ENSG00000037965 chr12:54009558-54009558;G/A missense_variant False HOXB7@p.E212K 1 0.387755102 ENSG00000260027 chr17:48607862-48607862;C/T missense_variant False HOXB6@p.T13P 1 0.06875 ENSG00000108511 chr17:48598114-48598114;T/G missense_variant False HOXB6@p.S91F 1 0.25 ENSG00000108511 chr17:48597879-48597879;G/A missense_variant False HOXB6@p.R148Q 1 0.233333333 ENSG00000108511 chr17:48596645-48596645;C/T missense_variant False HOXB6@p.E216K 1 0.331395349 ENSG00000108511 chr17:48596442-48596442;C/T missense_variant False HOXB6@p.E117K 1 0.266666667 ENSG00000108511 chr17:48597802-48597802;C/T missense_variant False HOXC10@p.R5C 1 0.049668874 ENSG00000180818 chr12:53985272-53985272;C/T missense_variant False HOXC11@p.E194K 1 0.333333333 ENSG00000123388 chr12:53973821-53973821;G/A missense_variant False HOXC11@p.S108Y 1 0.134615385 ENSG00000123388 chr12:53973564-53973564;C/A missense_variant False HOXC12@p.E89K 1 0.454545455 ENSG00000123407 chr12:53955194-53955194;G/A missense_variant False HOXC13@p.A295T 1 0.298701299 ENSG00000123364 chr12:53945146-53945146;G/A missense_variant False HOXC13@p.H205Q 1 0.333333333 ENSG00000123364 chr12:53939521-53939521;C/G missense_variant False HOXC13@p.R291Q 1 0.253521127 ENSG00000123364 chr12:53945135-53945135;G/A missense_variant False HOXC13@p.S322L 1 0.064102564 ENSG00000123364 chr12:53945228-53945228;C/T missense_variant False HOXC4@p.E51K 1 0.057142857 ENSG00000198353 chr12:54054073-54054073;G/A missense_variant False HOXC4@p.P125S 1 0.163265306 ENSG00000198353 chr12:54054295-54054295;C/T missense_variant False HOXC5@p.H175L 1 0.383458647 ENSG00000172789 chr12:54034347-54034347;A/T missense_variant False HOXC6@p.E107Q 1 0.079365079 ENSG00000197757 chr12:54028840-54028840;G/C missense_variant False HOXC6@p.Q116H 1 0.39516129 ENSG00000197757 chr12:54028869-54028869;G/C missense_variant False HOXC6@p.S51W 1 0.25 ENSG00000197757 chr12:54028673-54028673;C/G missense_variant False HOXC8@p.D211N 1 0.25 ENSG00000037965 chr12:54011283-54011283;G/A missense_variant False HOXC8@p.E165Q 1 0.152542373 ENSG00000037965 chr12:54011145-54011145;G/C missense_variant False HOXC8@p.E181K 1 0.174242424 ENSG00000037965 chr12:54011193-54011193;G/A missense_variant False HPD@p.Q341R 1 0.231404959 ENSG00000158104 chr12:121839981-121839981;T/C missense_variant False HPF1@p.E42K 1 0.617647059 ENSG00000056050 chr4:169753760-169753760;C/T missense_variant False HRG@p.E32K 1 0.357142857 ENSG00000113905 chr3:186666125-186666125;G/A missense_variant False HPSE2@p.V49A 1 0.14893617 ENSG00000172987 chr10:99235657-99235657;A/G missense_variant False HPX@p.H353Y 1 0.311111111 ENSG00000110169 chr11:6431713-6431713;G/A missense_variant False HPX@p.A146Lfs*32 1 0.255319149 ENSG00000110169 chr11:6438411-6438411;T/- frameshift_variant False HPSE@p.R428K 1 0.326923077 ENSG00000173083 chr4:83302192-83302192;C/T missense_variant False HPSE@p.Q474H 1 0.446153846 ENSG00000173083 chr4:83301010-83301010;T/A missense_variant False HPSE@p.D314N 1 0.171428571 ENSG00000173083 chr4:83309446-83309446;C/T missense_variant False HPSE@p.D291H 1 0.150197628 ENSG00000173083 chr4:83310050-83310050;C/G missense_variant False HPSE2@p.R561H 1 0.428571429 ENSG00000172987 chr10:98459671-98459671;C/T missense_variant False HPS5@p.R366I 1 0.158415842 ENSG00000110756 chr11:18298859-18298859;C/A missense_variant False HPSE2@p.R298T 1 0.140625 ENSG00000172987 chr10:98721720-98721720;C/G missense_variant False HPSE2@p.K363E 1 0.134146341 ENSG00000172987 chr10:98641858-98641858;T/C missense_variant False HPS6@p.R607Q 1 0.571428571 ENSG00000166189 chr10:102067294-102067294;G/A missense_variant False HPS6@p.R372Q 1 0.45 ENSG00000166189 chr10:102066589-102066589;G/A missense_variant False HPS6@p.E703K 1 0.319444444 ENSG00000166189 chr10:102067581-102067581;G/A missense_variant False HPS6@p.E389K 1 0.457627119 ENSG00000166189 chr10:102066639-102066639;G/A missense_variant False HR@p.P263S 1 0.127272727 ENSG00000168453 chr8:22127655-22127655;G/A missense_variant False HR@p.P31L 1 0.858695652 ENSG00000168453 chr8:22129079-22129079;G/A missense_variant False HR@p.R792L 1 0.479166667 ENSG00000168453 chr8:22120951-22120951;C/A missense_variant False HRAS@p.D33N 1 0.30952381 ENSG00000174775 chr11:534226-534226;C/T missense_variant True HRAS@p.E91K 1 0.355932203 ENSG00000174775 chr11:533785-533785;C/T missense_variant True HRAS@p.G12S 1 0.135135135 ENSG00000174775 chr11:534289-534289;C/T missense_variant True HRAS@p.G13D 1 0.245283019 ENSG00000174775 chr11:534285-534285;C/T missense_variant True HRAS@p.G13V 1 0.366666667 ENSG00000174775 chr11:534285-534285;C/A missense_variant True HRC@p.E330K 1 0.106060606 ENSG00000130528 chr19:49154250-49154250;C/T missense_variant False HRC@p.E379K 1 0.369565217 ENSG00000130528 chr19:49154103-49154103;C/T missense_variant False HRC@p.E56K 1 0.349282297 ENSG00000130528 chr19:49155072-49155072;C/T missense_variant False HRC@p.G114E 1 0.078431373 ENSG00000130528 chr19:49154897-49154897;C/T missense_variant False HRC@p.G467R 1 0.377358491 ENSG00000130528 chr19:49153839-49153839;C/G missense_variant False HRC@p.K112E 1 0.086956522 ENSG00000130528 chr19:49154904-49154904;T/C missense_variant False HRCT1@p.P83L 1 0.125 ENSG00000196196 chr9:35906535-35906535;C/T missense_variant False HRCT1@p.R64Q 1 0.230769231 ENSG00000196196 chr9:35906478-35906478;G/A missense_variant False HRG@p.D146Y 1 0.525423729 ENSG00000113905 chr3:186671667-186671667;G/T missense_variant False HPS5@p.R435K 1 0.108695652 ENSG00000110756 chr11:18297578-18297578;C/T missense_variant False HPS4@p.R592T 1 0.215384615 ENSG00000100099 chr22:26458516-26458516;C/G missense_variant False HPF1@p.R250I 1 0.526315789 ENSG00000056050 chr4:169731864-169731864;C/A missense_variant False HPR@p.L48F 1 0.159090909 ENSG00000261701 chr16:72074336-72074336;G/C missense_variant False HPS3@p.E406K 1 0.139240506 ENSG00000163755 chr3:149150651-149150651;G/A missense_variant False HPS3@p.E176Q 1 0.118811881 ENSG00000163755 chr3:149140312-149140312;G/C missense_variant False HPS1@p.Q505R 1 0.145454545 ENSG00000289758 chr10:98423771-98423771;T/C missense_variant False HPS1@p.Q266H 1 0.120879121 ENSG00000289758 chr10:98429860-98429860;C/G missense_variant False HPS1@p.E200K 1 0.25 ENSG00000289758 chr10:98431201-98431201;C/T missense_variant False HPRT1@p.E47K 1 0.866666667 ENSG00000165704 chrX:134475185-134475185;G/A missense_variant False HPR@p.E256K 1 0.275362319 ENSG00000261701 chr16:72076800-72076800;G/A missense_variant False HPS4@p.P591Afs*4 1 0.125 ENSG00000100099 chr22:26458521-26458522;-/A frameshift_variant False HPN@p.R313P 1 0.35 ENSG00000105707 chr19:35065569-35065569;G/C missense_variant False HPN@p.R247P 1 0.053571429 ENSG00000105707 chr19:35060746-35060746;G/C missense_variant False HPN@p.E122K 1 0.461538462 ENSG00000105707 chr19:35059947-35059947;G/A missense_variant False HPGDS@p.V92L 1 0.112676056 ENSG00000163106 chr4:94308696-94308696;C/A missense_variant False HPGDS@p.M99K 1 0.205479452 ENSG00000163106 chr4:94308674-94308674;A/T missense_variant False HPGD@p.G131S 1 0.302752294 ENSG00000164120 chr4:174508726-174508726;C/T missense_variant False HPS3@p.E454K 1 0.238636364 ENSG00000163755 chr3:149153608-149153608;G/A missense_variant False HPS3@p.F10L 1 0.257142857 ENSG00000163755 chr3:149129751-149129751;T/C missense_variant False HPS3@p.G605E 1 0.343065693 ENSG00000163755 chr3:149158788-149158788;G/A missense_variant False HPS3@p.H526Y 1 0.197916667 ENSG00000163755 chr3:149157416-149157416;C/T missense_variant False HPS3@p.L675V 1 0.301886792 ENSG00000163755 chr3:149160196-149160196;T/G missense_variant False HPS3@p.L766R 1 0.38 ENSG00000163755 chr3:149162694-149162694;T/G missense_variant False HPS3@p.Q632H 1 0.094594595 ENSG00000163755 chr3:149160069-149160069;G/C missense_variant False HPS3@p.R233K 1 0.324324324 ENSG00000163755 chr3:149140484-149140484;G/A missense_variant False HPS3@p.R428T 1 0.29787234 ENSG00000163755 chr3:149153531-149153531;G/C missense_variant False HPS3@p.S849Y 1 0.605263158 ENSG00000163755 chr3:149163906-149163906;C/A missense_variant False HPS3@p.V424I 1 0.464566929 ENSG00000163755 chr3:149153518-149153518;G/A missense_variant False HPS3@p.V497M 1 0.146551724 ENSG00000163755 chr3:149155195-149155195;G/A missense_variant False HPS4@p.A502T 1 0.165898618 ENSG00000100099 chr22:26464126-26464126;C/T missense_variant False HPS4@p.D69H 1 0.15 ENSG00000100099 chr22:26477064-26477064;C/G missense_variant False HPS4@p.E29Q 1 0.277777778 ENSG00000100099 chr22:26479312-26479312;C/G missense_variant False HPS4@p.E441Q 1 0.25 ENSG00000100099 chr22:26464309-26464309;C/G missense_variant False HPS4@p.N149Kfs*26 1 0.33974359 ENSG00000100099 chr22:26472356-26472356;G/- frameshift_variant False HSP90AB1@p.R679G 1 0.425427873 ENSG00000096384 chr6:44253348-44253348;C/G missense_variant False HSP90B1@p.D307Y 1 0.357142857 ENSG00000166598 chr12:103938403-103938403;G/T missense_variant False HYAL2@p.E451K 1 0.086956522 ENSG00000068001 chr3:50318200-50318200;C/T missense_variant False HTR2B@p.I176L 1 0.065637066 ENSG00000135914 chr2:231113756-231113756;T/G missense_variant False HTR3A@p.D393E 1 0.46835443 ENSG00000166736 chr11:113989505-113989505;C/G missense_variant False HTR2C@p.V215I 1 0.926267281 ENSG00000147246 chrX:114906681-114906681;G/A missense_variant False HTR2C@p.K292T 1 0.054054054 ENSG00000147246 chrX:114906913-114906913;A/C missense_variant False HTR2B@p.S8C 1 0.123287671 ENSG00000135914 chr2:231123742-231123742;G/C missense_variant False HTR2B@p.S28F 1 0.126984127 ENSG00000135914 chr2:231123682-231123682;G/A missense_variant False HTR2B@p.I192Mfs*13 1 0.181818182 ENSG00000135914 chr2:231109372-231109387;AGTCTCTATCCCTTTA/- frameshift_variant False HTR2B@p.E9K 1 0.307692308 ENSG00000135914 chr2:231123740-231123740;C/T missense_variant False HTR3B@p.D23Y 1 0.173076923 ENSG00000149305 chr11:113909309-113909309;G/T missense_variant False HTR2A@p.S288C 1 0.113636364 ENSG00000102468 chr13:46835390-46835390;G/C missense_variant False HTR2A@p.E302K 1 0.375 ENSG00000102468 chr13:46835349-46835349;C/T missense_variant False HTR2A@p.A176T 1 0.078740157 ENSG00000102468 chr13:46892477-46892477;C/T missense_variant False HTR1F@p.S42C 1 0.483146067 ENSG00000179097 chr3:87990874-87990874;C/G missense_variant False HTR1F@p.S27F 1 0.210884354 ENSG00000179097 chr3:87990829-87990829;C/T missense_variant False HTR1F@p.R289W 1 0.2 ENSG00000179097 chr3:87991614-87991614;C/T missense_variant False HTR3A@p.L315V 1 0.146341463 ENSG00000166736 chr11:113986851-113986851;C/G missense_variant False HTR3B@p.E102D 1 0.113475177 ENSG00000149305 chr11:113931805-113931805;G/T missense_variant False HSP90B1@p.D707H 1 0.136986301 ENSG00000166598 chr12:103946798-103946798;G/C missense_variant False HTR3E@p.L261V 1 0.208053691 ENSG00000186038 chr3:184105825-184105825;C/G missense_variant False HTR5A@p.D121N 1 0.392857143 ENSG00000157219 chr7:155071260-155071260;G/A missense_variant False HTR4@p.V73M 1 0.069306931 ENSG00000164270 chr5:148548804-148548804;C/T missense_variant False HTR4@p.R96G 1 0.272727273 ENSG00000164270 chr5:148548735-148548735;G/C missense_variant False HTR4@p.L324F 1 0.289473684 ENSG00000164270 chr5:148509562-148509562;G/A missense_variant False HTR3E@p.S446C 1 0.268292683 ENSG00000186038 chr3:184106659-184106659;C/G missense_variant False HTR3E@p.S221T 1 0.264705882 ENSG00000186038 chr3:184105369-184105369;G/C missense_variant False HTR3E@p.G109S 1 0.139534884 ENSG00000186038 chr3:184104227-184104227;G/A missense_variant False HTR3C@p.D172N 1 0.231578947 ENSG00000178084 chr3:184056999-184056999;G/A missense_variant False HTR3D@p.G319D 1 0.661016949 ENSG00000186090 chr3:184038445-184038445;G/A missense_variant False HTR3D@p.F263L 1 0.215384615 ENSG00000186090 chr3:184038149-184038149;C/G missense_variant False HTR3C@p.I30M 1 0.070588235 ENSG00000178084 chr3:184054743-184054743;C/G missense_variant False HTR3C@p.G288D 1 0.456521739 ENSG00000178084 chr3:184059578-184059578;G/A missense_variant False HTR3C@p.E118K 1 0.198675497 ENSG00000178084 chr3:184056249-184056249;G/A missense_variant False HTR3C@p.D401H 1 0.37037037 ENSG00000178084 chr3:184060209-184060209;G/C missense_variant False HTR1F@p.R269T 1 0.388888889 ENSG00000179097 chr3:87991555-87991555;G/C missense_variant False HTR1F@p.L114V 1 0.23943662 ENSG00000179097 chr3:87991089-87991089;C/G missense_variant False HTR1F@p.F3L 1 0.355769231 ENSG00000179097 chr3:87990758-87990758;C/A missense_variant False HTATSF1@p.E20K 1 0.722222222 ENSG00000102241 chrX:136497742-136497742;G/A missense_variant False HTN1@p.L12V 1 0.196721311 ENSG00000126550 chr4:70053110-70053110;C/G missense_variant False HTATSF1@p.R335K 1 0.363970588 ENSG00000102241 chrX:136510161-136510161;G/A missense_variant False HTATSF1@p.G493V 1 0.425 ENSG00000102241 chrX:136511223-136511223;G/T missense_variant False HTATSF1@p.G493E 1 0.796875 ENSG00000102241 chrX:136511223-136511223;G/A missense_variant False HTATSF1@p.E617Q 1 0.863636364 ENSG00000102241 chrX:136511594-136511594;G/C missense_variant False HTATSF1@p.E294Q 1 0.721590909 ENSG00000102241 chrX:136509136-136509136;G/C missense_variant False HTATSF1@p.D753N 1 0.722222222 ENSG00000102241 chrX:136512002-136512002;G/A missense_variant False HTR1E@p.R291C 1 0.288343558 ENSG00000168830 chr6:87016205-87016205;C/T missense_variant False HSPH1@p.Q161H 1 0.292418773 ENSG00000120694 chr13:31152898-31152898;C/G missense_variant False HSPH1@p.P816A 1 0.208333333 ENSG00000120694 chr13:31137449-31137449;G/C missense_variant False HSPH1@p.N367Y 1 0.032142857 ENSG00000120694 chr13:31149992-31149992;T/A missense_variant False HSPH1@p.N216S 1 0.515151515 ENSG00000120694 chr13:31151625-31151625;T/C missense_variant False HSPH1@p.L774F 1 0.098591549 ENSG00000120694 chr13:31138457-31138457;G/A missense_variant False HSPH1@p.G232A 1 0.154929577 ENSG00000120694 chr13:31151160-31151160;C/G missense_variant False HTR1A@p.A154T 1 0.186046512 ENSG00000178394 chr5:63961260-63961260;C/T missense_variant False HTR1A@p.E234D 1 0.089285714 ENSG00000178394 chr5:63961018-63961018;C/G missense_variant False HTR1A@p.H242N 1 0.452830189 ENSG00000178394 chr5:63960996-63960996;G/T missense_variant False HTR1A@p.I385M 1 0.497142857 ENSG00000178394 chr5:63960565-63960565;G/C missense_variant False HTR1A@p.I75T 1 0.673469388 ENSG00000178394 chr5:63961496-63961496;A/G missense_variant False HTR1A@p.P207A 1 0.373417722 ENSG00000178394 chr5:63961101-63961101;G/C missense_variant False HTR1A@p.P378L 1 0.381443299 ENSG00000178394 chr5:63960587-63960587;G/A missense_variant False HTR1A@p.S123F 1 0.65 ENSG00000178394 chr5:63961352-63961352;G/A missense_variant False HTR1B@p.L91V 1 0.15037594 ENSG00000135312 chr6:77463133-77463133;G/C missense_variant False HTR1B@p.Q22E 1 0.6375 ENSG00000135312 chr6:77463340-77463340;G/C missense_variant False HTR1B@p.T243M 1 0.643478261 ENSG00000135312 chr6:77462676-77462676;G/A missense_variant False HTR1D@p.A336V 1 0.234234234 ENSG00000179546 chr1:23193213-23193213;G/A missense_variant False HTR1D@p.E9Q 1 0.186813187 ENSG00000179546 chr1:23194195-23194195;C/G missense_variant False HTR1D@p.I119M 1 0.172413793 ENSG00000179546 chr1:23193863-23193863;G/C missense_variant False HTR1D@p.P31S 1 0.151079137 ENSG00000179546 chr1:23194129-23194129;G/A missense_variant False HTR1D@p.R222Q 1 0.108695652 ENSG00000179546 chr1:23193555-23193555;C/T missense_variant False HTR1D@p.S270F 1 0.408602151 ENSG00000179546 chr1:23193411-23193411;G/A missense_variant False HTR5A@p.D273Y 1 0.163636364 ENSG00000157219 chr7:155084230-155084230;G/T missense_variant False HTR5A@p.R230S 1 0.25 ENSG00000157219 chr7:155071587-155071587;C/A missense_variant False HTR6@p.F302Y 1 0.364285714 ENSG00000158748 chr1:19678950-19678950;T/A missense_variant False HUWE1@p.A3292V 1 0.082568807 ENSG00000086758 chrX:53549119-53549119;G/A missense_variant False HUWE1@p.E2276K 1 0.575757576 ENSG00000086758 chrX:53565121-53565121;C/T missense_variant False HUWE1@p.E1975Q 1 0.319148936 ENSG00000086758 chrX:53575750-53575750;C/G missense_variant False HUWE1@p.E1314K 1 0.428571429 ENSG00000086758 chrX:53592430-53592430;C/T missense_variant False HUWE1@p.E1184Q 1 0.254901961 ENSG00000086758 chrX:53593555-53593555;C/G missense_variant False HUWE1@p.D814H 1 0.888888889 ENSG00000086758 chrX:53607579-53607579;C/G missense_variant False HUWE1@p.D2002N 1 0.266666667 ENSG00000086758 chrX:53575669-53575669;C/T missense_variant False HUS1B@p.S156C 1 0.328125 ENSG00000188996 chr6:656479-656479;T/A missense_variant False HUNK@p.R567C 1 0.921052632 ENSG00000142149 chr21:31998738-31998738;C/T missense_variant False HUS1B@p.R139K 1 0.244897959 ENSG00000188996 chr6:656529-656529;C/T missense_variant False HUS1B@p.L271V 1 0.158536585 ENSG00000188996 chr6:656134-656134;G/C missense_variant False HUS1B@p.L237V 1 0.299401198 ENSG00000188996 chr6:656236-656236;G/C missense_variant False HUS1B@p.G48R 1 0.652173913 ENSG00000188996 chr6:656803-656803;C/G missense_variant False HUS1B@p.A173T 1 0.10625 ENSG00000188996 chr6:656428-656428;C/T missense_variant False HUNK@p.T264M 1 0.122222222 ENSG00000142149 chr21:31958887-31958887;C/T missense_variant False HUWE1@p.F428V 1 0.862068966 ENSG00000086758 chrX:53627840-53627840;A/C missense_variant False HUWE1@p.H900Y 1 0.52173913 ENSG00000086758 chrX:53604633-53604633;G/A missense_variant False HUWE1@p.I3443T 1 0.147058824 ENSG00000086758 chrX:53547981-53547981;A/G missense_variant False HUWE1@p.I903M 1 1.0 ENSG00000086758 chrX:53604622-53604622;G/C missense_variant False HUWE1@p.L1682V 1 0.111111111 ENSG00000086758 chrX:53584303-53584303;G/C missense_variant False HUWE1@p.P1149S 1 0.285714286 ENSG00000086758 chrX:53594557-53594557;G/A missense_variant False HUWE1@p.R1061L 1 0.727272727 ENSG00000086758 chrX:53595385-53595385;C/A missense_variant False HUWE1@p.R1377T 1 0.904411765 ENSG00000086758 chrX:53590465-53590465;C/G missense_variant False HUWE1@p.R1880P 1 0.333333333 ENSG00000086758 chrX:53580908-53580908;C/G missense_variant False HUWE1@p.R3971W 1 0.388888889 ENSG00000086758 chrX:53538422-53538422;G/A missense_variant False HUWE1@p.R4002L 1 0.185185185 ENSG00000086758 chrX:53537688-53537688;C/A missense_variant False HUWE1@p.R918C 1 0.9375 ENSG00000086758 chrX:53603492-53603492;G/A missense_variant False HUWE1@p.S3379F 1 0.555555556 ENSG00000086758 chrX:53548173-53548173;G/A missense_variant False HUWE1@p.T1095_P1096del 1 0.102040816 ENSG00000086758 chrX:53595280-53595285;GGTGTC/- inframe_deletion False HVCN1@p.F150C 1 0.52688172 ENSG00000122986 chr12:110651411-110651411;A/C missense_variant False HVCN1@p.S22R 1 0.149253731 ENSG00000122986 chr12:110661404-110661404;G/T missense_variant False HYAL2@p.D229N 1 0.34 ENSG00000068001 chr3:50319805-50319805;C/T missense_variant False HUNK@p.R660Q 1 0.123966942 ENSG00000142149 chr21:31999018-31999018;G/A missense_variant False HUNK@p.P219L 1 0.185185185 ENSG00000142149 chr21:31946081-31946081;C/T missense_variant False HTR6@p.I48M 1 0.315789474 ENSG00000158748 chr1:19665897-19665897;C/G missense_variant False HTRA2@p.A70V 1 0.2 ENSG00000115317 chr2:74530215-74530215;C/T missense_variant False HTRA3@p.R168H 1 0.211111111 ENSG00000170801 chr4:8286578-8286578;G/A missense_variant False HTRA3@p.I407M 1 0.25136612 ENSG00000170801 chr4:8305995-8305995;C/G missense_variant False HTRA2@p.R207G 1 0.525 ENSG00000115317 chr2:74530729-74530729;C/G missense_variant False HTRA2@p.R15W 1 0.205882353 ENSG00000115317 chr2:74530049-74530049;C/T missense_variant False HTRA2@p.Q235H 1 0.251497006 ENSG00000115317 chr2:74530815-74530815;G/C missense_variant False HTRA2@p.D190N 1 0.301369863 ENSG00000115317 chr2:74530678-74530678;G/A missense_variant False HTR7@p.S129W 1 0.166666667 ENSG00000148680 chr10:90857286-90857286;G/C missense_variant False HUNK@p.M117I 1 0.2 ENSG00000142149 chr21:31924557-31924557;G/T missense_variant False HTR7@p.K297N 1 0.214285714 ENSG00000148680 chr10:90749243-90749243;C/G missense_variant False HTR7@p.E426Q 1 0.425287356 ENSG00000148680 chr10:90748858-90748858;C/G missense_variant False HTR7@p.D142N 1 0.214285714 ENSG00000148680 chr10:90857248-90857248;C/T missense_variant False HTR6@p.R342G 1 0.2 ENSG00000158748 chr1:19679069-19679069;C/G missense_variant False HTR6@p.R339C 1 0.5 ENSG00000158748 chr1:19679060-19679060;C/T missense_variant False HTR6@p.R244S 1 0.127906977 ENSG00000158748 chr1:19678582-19678582;C/A missense_variant False HTRA3@p.R251W 1 0.172413793 ENSG00000170801 chr4:8291412-8291412;C/T missense_variant False HTRA3@p.V192M 1 0.4375 ENSG00000170801 chr4:8286649-8286649;G/A missense_variant False HTT@p.D1559N 1 0.153846154 ENSG00000197386 chr4:3180577-3180577;G/A missense_variant False HTT@p.E1114K 1 0.166666667 ENSG00000197386 chr4:3148049-3148049;G/A missense_variant False HTT@p.E2841Q 1 0.058139535 ENSG00000197386 chr4:3235348-3235348;G/C missense_variant False HTT@p.E2850Q 1 0.226415094 ENSG00000197386 chr4:3235375-3235375;G/C missense_variant False HTT@p.F3112L 1 0.4 ENSG00000197386 chr4:3239966-3239966;C/G missense_variant False HTT@p.H1932Y 1 0.093023256 ENSG00000197386 chr4:3206571-3206571;C/T missense_variant False HTT@p.H2620N 1 0.261904762 ENSG00000197386 chr4:3228624-3228624;C/A missense_variant False HTT@p.L1083V 1 0.034707158 ENSG00000197386 chr4:3146900-3146900;C/G missense_variant False HTT@p.P1080Q 1 0.229559748 ENSG00000197386 chr4:3146892-3146892;C/A missense_variant False HTT@p.R2223Q 1 0.068259386 ENSG00000197386 chr4:3212603-3212603;G/A missense_variant False HTT@p.S2888C 1 0.102564103 ENSG00000197386 chr4:3235656-3235656;C/G missense_variant False HTT@p.V1571L 1 0.485714286 ENSG00000197386 chr4:3180613-3180613;G/T missense_variant False HTT@p.V3016M 1 0.617647059 ENSG00000197386 chr4:3238601-3238601;G/A missense_variant False HTT@p.Y3126C 1 0.217391304 ENSG00000197386 chr4:3240007-3240007;A/G missense_variant False HUNK@p.A180V 1 0.448529412 ENSG00000142149 chr21:31924745-31924745;C/T missense_variant False HSPH1@p.F230L 1 0.083969466 ENSG00000120694 chr13:31151165-31151165;G/C missense_variant False HSPH1@p.E418K 1 0.04137931 ENSG00000120694 chr13:31148085-31148085;C/T missense_variant False HSPH1@p.D90N 1 0.317460317 ENSG00000120694 chr13:31155552-31155552;C/T missense_variant False HSPA1L@p.E532K 1 0.244791667 ENSG00000204390 chr6:31810379-31810379;C/T missense_variant False HSPA2@p.A179V 1 0.4 ENSG00000126803 chr14:64541385-64541385;C/T missense_variant False HSPA1L@p.S420C 1 0.486238532 ENSG00000204390 chr6:31810714-31810714;G/C missense_variant False HSPA1L@p.S123L 1 0.438596491 ENSG00000204390 chr6:31811605-31811605;G/A missense_variant False HSPA1L@p.Q475E 1 0.100917431 ENSG00000204390 chr6:31810550-31810550;G/C missense_variant False HSPA1L@p.P400S 1 0.493333333 ENSG00000204390 chr6:31810775-31810775;G/A missense_variant False HSPA1L@p.G77D 1 0.363636364 ENSG00000204390 chr6:31811743-31811743;C/T missense_variant False HSPA1L@p.E516K 1 0.417910448 ENSG00000204390 chr6:31810427-31810427;C/T missense_variant False HSPA1A@p.I607M 1 0.2 ENSG00000204389 chr6:31817577-31817577;C/G missense_variant False HSPA1L@p.D595N 1 0.25974026 ENSG00000204390 chr6:31810190-31810190;C/T missense_variant False HSPA1L@p.D595H 1 0.307086614 ENSG00000204390 chr6:31810190-31810190;C/G missense_variant False HSPA1L@p.D481N 1 0.555555556 ENSG00000204390 chr6:31810532-31810532;C/T missense_variant False HSPA1L@p.D325N 1 0.115384615 ENSG00000204390 chr6:31811000-31811000;C/T missense_variant False HSPA1B@p.V18M 1 0.333333333 ENSG00000204388 chr6:31828002-31828002;G/A missense_variant False HSPA1B@p.E576Q 1 0.226415094 ENSG00000204388 chr6:31829676-31829676;G/C missense_variant False HSPA2@p.D482N 1 0.552238806 ENSG00000126803 chr14:64542293-64542293;G/A missense_variant False HSPA2@p.E361Q 1 0.258064516 ENSG00000126803 chr14:64541930-64541930;G/C missense_variant False HSPA2@p.E596K 1 0.65625 ENSG00000126803 chr14:64542635-64542635;G/A missense_variant False HSPA2@p.G185S 1 0.336842105 ENSG00000126803 chr14:64541402-64541402;G/A missense_variant False HSPA4@p.E507K 1 0.240740741 ENSG00000170606 chr5:133091333-133091333;G/A missense_variant False HSPA4@p.Y89H 1 0.268656716 ENSG00000170606 chr5:133067516-133067516;T/C missense_variant False HSPA4L@p.C740R 1 0.358490566 ENSG00000164070 chr4:127830689-127830689;T/C missense_variant False HSPA4L@p.E29K 1 0.25 ENSG00000164070 chr4:127782635-127782635;G/A missense_variant False HSPA4L@p.E339Q 1 0.11627907 ENSG00000164070 chr4:127805102-127805102;G/C missense_variant False HSPA4L@p.I486V 1 0.321428571 ENSG00000164070 chr4:127811514-127811514;A/G missense_variant False HSPA4L@p.M171I 1 0.196078431 ENSG00000164070 chr4:127801221-127801221;G/A missense_variant False HSPA4L@p.R196T 1 0.545454545 ENSG00000164070 chr4:127801842-127801842;G/C missense_variant False HSPA5@p.D515H 1 0.193965517 ENSG00000044574 chr9:125237014-125237014;C/G missense_variant False HSPA5@p.D560H 1 0.693877551 ENSG00000044574 chr9:125236879-125236879;C/G missense_variant False HSPA5@p.E329Q 1 0.25 ENSG00000044574 chr9:125238952-125238952;C/G missense_variant False HSPA5@p.E502Q 1 0.682926829 ENSG00000044574 chr9:125237053-125237053;C/G missense_variant False HSPA5@p.E536K 1 0.263803681 ENSG00000044574 chr9:125236951-125236951;C/T missense_variant False HSPA1B@p.D10N 1 0.282608696 ENSG00000204388 chr6:31827978-31827978;G/A missense_variant False HSPA1A@p.E638K 1 0.071428571 ENSG00000204389 chr6:31817668-31817668;G/A missense_variant False HSPA5@p.E646Q 1 0.208333333 ENSG00000044574 chr9:125236621-125236621;C/G missense_variant False HSP90B1@p.Y359H 1 0.104477612 ENSG00000166598 chr12:103939608-103939608;T/C missense_variant False HSPA12A@p.K570N 1 0.235294118 ENSG00000165868 chr10:116675099-116675099;C/G missense_variant False HSPA12A@p.K131Sfs*11 1 0.142857143 ENSG00000165868 chr10:116700992-116700992;T/- frameshift_variant False HSPA12A@p.I653V 1 0.406779661 ENSG00000165868 chr10:116674852-116674852;T/C missense_variant False HSPA12A@p.I528M 1 0.103448276 ENSG00000165868 chr10:116675225-116675225;G/C missense_variant False HSPA12A@p.G560V 1 0.065217391 ENSG00000165868 chr10:116675130-116675130;C/A missense_variant False HSPA12A@p.D608Y 1 0.2 ENSG00000165868 chr10:116674987-116674987;C/A missense_variant False HSP90B1@p.S169F 1 0.218181818 ENSG00000166598 chr12:103934050-103934050;C/T missense_variant False HSPA1A@p.D10N 1 0.516483516 ENSG00000204389 chr6:31815784-31815784;G/A missense_variant False HSP90B1@p.R546T 1 0.070588235 ENSG00000166598 chr12:103942789-103942789;G/C missense_variant False HSP90B1@p.K142N 1 0.184210526 ENSG00000166598 chr12:103933970-103933970;G/C missense_variant False HSP90B1@p.E789K 1 0.583333333 ENSG00000166598 chr12:103947413-103947413;G/A missense_variant False HSP90B1@p.E123K 1 0.444444444 ENSG00000166598 chr12:103932898-103932898;G/A missense_variant False HSP90B1@p.D801H 1 0.340425532 ENSG00000166598 chr12:103947651-103947651;G/C missense_variant False HSP90B1@p.D737N 1 0.316831683 ENSG00000166598 chr12:103946888-103946888;G/A missense_variant False HSPA12A@p.N286K 1 0.275862069 ENSG00000165868 chr10:116681855-116681855;A/T missense_variant False HSPA12B@p.E197Q 1 0.32183908 ENSG00000132622 chr20:3745945-3745945;G/C missense_variant False HSPA12B@p.E392Q 1 0.25 ENSG00000132622 chr20:3750100-3750100;G/C missense_variant False HSPA12B@p.L634H 1 0.461538462 ENSG00000132622 chr20:3752006-3752006;T/A missense_variant False HSPA12B@p.R202C 1 0.476190476 ENSG00000132622 chr20:3745960-3745960;C/T missense_variant False HSPA13@p.D217N 1 0.081632653 ENSG00000155304 chr21:14375751-14375751;C/T missense_variant False HSPA13@p.D371H 1 0.259036145 ENSG00000155304 chr21:14373922-14373922;C/G missense_variant False HSPA13@p.M248L 1 0.348214286 ENSG00000155304 chr21:14375658-14375658;T/A missense_variant False HSPA13@p.S280C 1 0.318181818 ENSG00000155304 chr21:14374194-14374194;G/C missense_variant False HSPA13@p.S308L 1 0.159090909 ENSG00000155304 chr21:14374110-14374110;G/A missense_variant False HSPA13@p.V430L 1 0.379746835 ENSG00000155304 chr21:14373745-14373745;C/G missense_variant False HSPA14@p.D138N 1 0.148760331 ENSG00000187522 chr10:14849756-14849756;G/A missense_variant False HSPA14@p.D447H 1 0.181818182 ENSG00000187522 chr10:14867868-14867868;G/C missense_variant False HSPA14@p.E470Q 1 0.333333333 ENSG00000187522 chr10:14870624-14870624;G/C missense_variant False HSPA14@p.L177F 1 0.060869565 ENSG00000187522 chr10:14851280-14851280;C/T missense_variant False HSPA14@p.N221H 1 0.428571429 ENSG00000187522 chr10:14852458-14852458;A/C missense_variant False HSPA14@p.V34L 1 0.35915493 ENSG00000187522 chr10:14839947-14839947;G/C missense_variant False HSPA5@p.E546K 1 0.35 ENSG00000044574 chr9:125236921-125236921;C/T missense_variant False HSPA5@p.Q343H 1 0.371428571 ENSG00000044574 chr9:125238795-125238795;C/G missense_variant False HSPG2@p.S986F 1 0.230769231 ENSG00000142798 chr1:21876275-21876275;G/A missense_variant False HSPD1@p.L334F 1 0.328125 ENSG00000144381 chr2:197489217-197489217;G/A missense_variant False HSPG2@p.E3220K 1 0.285714286 ENSG00000142798 chr1:21839873-21839873;C/T missense_variant False HSPG2@p.E1671Q 1 0.222222222 ENSG00000142798 chr1:21860180-21860180;C/G missense_variant False HSPG2@p.E1455K 1 0.133333333 ENSG00000142798 chr1:21865317-21865317;C/T missense_variant False HSPG2@p.D149N 1 0.203539823 ENSG00000142798 chr1:21890110-21890110;C/T missense_variant False HSPG2@p.D1489H 1 0.555555556 ENSG00000142798 chr1:21865004-21865004;C/G missense_variant False HSPG2@p.A2464S 1 0.061611374 ENSG00000142798 chr1:21850097-21850097;C/A missense_variant False HSPD1@p.L288F 1 0.06614786 ENSG00000144381 chr2:197493329-197493329;C/G missense_variant False HSPB9@p.V72M 1 0.320987654 ENSG00000260325 chr17:42123064-42123064;G/A missense_variant False HSPD1@p.D241Y 1 0.260869565 ENSG00000144381 chr2:197493472-197493472;C/A missense_variant False HSPBP1@p.L235F 1 0.7 ENSG00000133265 chr19:55266222-55266222;C/G missense_variant False HSPBAP1@p.S161R 1 0.091954023 ENSG00000169087 chr3:122759310-122759310;A/T missense_variant False HSPBAP1@p.Q71H 1 0.178571429 ENSG00000169087 chr3:122777758-122777758;C/G missense_variant False HSPBAP1@p.M354I 1 0.072992701 ENSG00000169087 chr3:122740750-122740750;C/A missense_variant False HSPBAP1@p.G16R 1 0.0859375 ENSG00000169087 chr3:122793635-122793635;C/T missense_variant False HSPG2@p.E3794K 1 0.140625 ENSG00000142798 chr1:21831535-21831535;C/T missense_variant False HSPG2@p.E497Q 1 0.222222222 ENSG00000142798 chr1:21884785-21884785;C/G missense_variant False HSPG2@p.E949K 1 0.2 ENSG00000142798 chr1:21876387-21876387;C/T missense_variant False HSPG2@p.G2283Afs*43 1 0.119047619 ENSG00000142798 chr1:21852110-21852110;C/- frameshift_variant False HSPG2@p.G2950V 1 0.233082707 ENSG00000142798 chr1:21842831-21842831;C/A missense_variant False HSPG2@p.G857R 1 0.428571429 ENSG00000142798 chr1:21878481-21878481;C/T missense_variant False HSPG2@p.K2054N 1 0.30952381 ENSG00000142798 chr1:21854737-21854737;C/G missense_variant False HSPG2@p.L577P 1 0.34 ENSG00000142798 chr1:21881427-21881427;A/G missense_variant False HSPG2@p.Q684R 1 0.357142857 ENSG00000142798 chr1:21880507-21880507;T/C missense_variant False HSPG2@p.Q695H 1 0.195121951 ENSG00000142798 chr1:21880473-21880473;C/G missense_variant False HSPG2@p.Q80H 1 0.125 ENSG00000142798 chr1:21895926-21895926;C/G missense_variant False HSPG2@p.R1712C 1 0.333333333 ENSG00000142798 chr1:21859883-21859883;G/A missense_variant False HSPG2@p.R2292C 1 0.347826087 ENSG00000142798 chr1:21851923-21851923;G/A missense_variant False HSPG2@p.S2736L 1 0.204545455 ENSG00000142798 chr1:21846557-21846557;G/A missense_variant False HSPG2@p.S3496Y 1 0.26 ENSG00000142798 chr1:21834912-21834912;G/T missense_variant False HSPG2@p.S3672C 1 0.333333333 ENSG00000142798 chr1:21833348-21833348;G/C missense_variant False HSPG2@p.S377C 1 0.132075472 ENSG00000142798 chr1:21885400-21885400;G/C missense_variant False HSPBAP1@p.D334N 1 0.077419355 ENSG00000169087 chr3:122740812-122740812;C/T missense_variant False HSPB9@p.R26P 1 0.254901961 ENSG00000260325 chr17:42122927-42122927;G/C missense_variant False HSPA5@p.R289W 1 0.072 ENSG00000044574 chr9:125239072-125239072;G/A missense_variant False HSPA8@p.E192Q 1 0.489795918 ENSG00000109971 chr11:123060019-123060019;C/G missense_variant False HSPA8@p.N487S 1 0.139534884 ENSG00000109971 chr11:123058694-123058694;T/C missense_variant False HSPA8@p.E644K 1 0.208333333 ENSG00000109971 chr11:123057745-123057745;C/T missense_variant False HSPA8@p.E528K 1 0.47260274 ENSG00000109971 chr11:123058425-123058425;C/T missense_variant False HSPA8@p.E318D 1 0.829268293 ENSG00000109971 chr11:123059639-123059639;C/G missense_variant False HSPA8@p.E255K 1 0.558823529 ENSG00000109971 chr11:123059830-123059830;C/T missense_variant False HSPA8@p.E218Q 1 0.180327869 ENSG00000109971 chr11:123059941-123059941;C/G missense_variant False HSPA8@p.A482V 1 0.442857143 ENSG00000109971 chr11:123058709-123058709;G/A missense_variant False HSPB9@p.R146K 1 0.283333333 ENSG00000260325 chr17:42123287-42123287;G/A missense_variant False HSPA6@p.K73R 1 0.073170732 ENSG00000173110 chr1:161524876-161524876;A/G missense_variant False HSPA6@p.E99Q 1 0.094202899 ENSG00000173110 chr1:161524953-161524953;G/C missense_variant False HSPA6@p.E532Q 1 0.117647059 ENSG00000173110 chr1:161526252-161526252;G/C missense_variant False HSPA6@p.E305Q 1 0.487804878 ENSG00000173110 chr1:161525571-161525571;G/C missense_variant False HSPA6@p.E246K 1 0.470588235 ENSG00000173110 chr1:161525394-161525394;G/A missense_variant False HSPA5@p.T481A 1 0.372881356 ENSG00000044574 chr9:125237116-125237116;T/C missense_variant False HSPA8@p.S633Lfs*11 1 0.339805825 ENSG00000109971 chr11:123057778-123057779;-/G frameshift_variant False HSPA8@p.Y443H 1 0.327272727 ENSG00000109971 chr11:123058827-123058827;A/G missense_variant False HSPA9@p.E49K 1 0.285714286 ENSG00000113013 chr5:138573846-138573846;C/T missense_variant False HSPA9@p.F290L 1 0.318181818 ENSG00000113013 chr5:138567010-138567010;G/C missense_variant False HSPA9@p.Q306H 1 0.11440678 ENSG00000113013 chr5:138566680-138566680;C/G missense_variant False HSPA9@p.R107Q 1 0.208791209 ENSG00000113013 chr5:138571050-138571050;C/T missense_variant False HSPA9@p.R292T 1 0.177304965 ENSG00000113013 chr5:138567005-138567005;C/G missense_variant False HSPB11@p.S140L 1 0.21686747 None chr1:53921667-53921667;G/A missense_variant False HSPB1@p.E130K 1 0.097222222 ENSG00000106211 chr7:76303825-76303825;G/A missense_variant False HSPB1@p.E195Rfs*6 1 0.230769231 ENSG00000106211 chr7:76304138-76304163;GAAGCTGCAAAATCCGATGAGACTGC/- frameshift_variant False HSPB2@p.G72C 1 0.159574468 ENSG00000170276 chr11:111913560-111913560;G/T missense_variant False HSPB2@p.R106C 1 0.339285714 ENSG00000170276 chr11:111913662-111913662;C/T missense_variant False HSPB2@p.S65Y 1 0.067226891 ENSG00000170276 chr11:111913540-111913540;C/A missense_variant False HSPB3@p.E66K 1 0.517647059 ENSG00000169271 chr5:54455985-54455985;G/A missense_variant False HSPB3@p.F80L 1 0.260869565 ENSG00000169271 chr5:54456029-54456029;C/A missense_variant False HSPB7@p.S25C 1 0.137931034 ENSG00000173641 chr1:16017890-16017890;G/C missense_variant False HSPB9@p.M105I 1 0.076923077 ENSG00000260325 chr17:42123165-42123165;G/A missense_variant False IGSF10@p.V1390I 1 0.343137255 ENSG00000152580 chr3:151445813-151445813;C/T missense_variant False IGSF11@p.I221V 1 0.362068966 ENSG00000144847 chr3:118905638-118905638;T/C missense_variant False ITGB3@p.L731V 1 0.243589744 ENSG00000259207 chr17:47307527-47307527;C/G missense_variant False IQGAP1@p.L1513V 1 0.096774194 ENSG00000140575 chr15:90492620-90492620;C/G missense_variant False IQGAP2@p.D769H 1 0.170731707 ENSG00000145703 chr5:76654988-76654988;G/C missense_variant False IQGAP2@p.D1117H 1 0.37704918 ENSG00000145703 chr5:76674531-76674531;G/C missense_variant False IQGAP2@p.A1473V 1 0.352941176 ENSG00000145703 chr5:76701126-76701126;C/T missense_variant False IQGAP2@p.A1327P 1 0.113207547 ENSG00000145703 chr5:76693428-76693428;G/C missense_variant False IQGAP1@p.Q796E 1 0.21875 ENSG00000140575 chr15:90473751-90473751;C/G missense_variant False IQGAP1@p.M502I 1 0.277777778 ENSG00000140575 chr15:90454446-90454446;G/A missense_variant False IQGAP1@p.L1085F 1 0.568965517 ENSG00000140575 chr15:90477813-90477813;C/T missense_variant False IQGAP2@p.M145I 1 0.357142857 ENSG00000145703 chr5:76575746-76575746;G/A missense_variant False IQGAP1@p.K965Efs*62 1 0.3125 ENSG00000140575 chr15:90476771-90476772;AA/- frameshift_variant False IQGAP1@p.G107S 1 0.326923077 ENSG00000140575 chr15:90429595-90429595;G/A missense_variant False IQCN@p.S1098C 1 0.12 ENSG00000130518 chr19:18257430-18257430;G/C missense_variant False IQCN@p.R6T 1 0.342465753 ENSG00000130518 chr19:18267523-18267523;C/G missense_variant False IQCN@p.Q730P 1 0.326086957 ENSG00000130518 chr19:18265351-18265351;T/G missense_variant False IQCN@p.P205L 1 0.225 ENSG00000130518 chr19:18266926-18266926;G/A missense_variant False IQGAP2@p.E1469Q 1 0.205607477 ENSG00000145703 chr5:76701113-76701113;G/C missense_variant False IQGAP2@p.P319S 1 0.270833333 ENSG00000145703 chr5:76597486-76597486;C/T missense_variant False IRF2BPL@p.K330N 1 0.142857143 ENSG00000119669 chr14:77026803-77026803;C/G missense_variant False IQGAP3@p.S1394F 1 0.143274854 ENSG00000183856 chr1:156531170-156531170;G/A missense_variant False IQSEC2@p.L1003V 1 0.75 ENSG00000124313 chrX:53241792-53241792;G/C missense_variant False IQSEC1@p.V838L 1 0.236842105 ENSG00000144711 chr3:12909381-12909381;C/G missense_variant False IQSEC1@p.G287S 1 0.096 ENSG00000144711 chr3:12936199-12936199;C/T missense_variant False IQSEC1@p.F842V 1 0.512396694 ENSG00000144711 chr3:12909369-12909369;A/C missense_variant False IQSEC1@p.E761K 1 0.526315789 ENSG00000144711 chr3:12913505-12913505;C/T missense_variant False IQGAP3@p.Y1176C 1 0.4 ENSG00000183856 chr1:156534714-156534714;T/C missense_variant False IQGAP3@p.P560S 1 0.333333333 ENSG00000183856 chr1:156551761-156551761;G/A missense_variant False IQGAP2@p.S1389C 1 0.176470588 ENSG00000145703 chr5:76695626-76695626;C/G missense_variant False IQGAP3@p.H1592Y 1 0.495145631 ENSG00000183856 chr1:156527960-156527960;G/A missense_variant False IQGAP3@p.G1505D 1 0.276595745 ENSG00000183856 chr1:156528973-156528973;C/T missense_variant False IQGAP3@p.F688L 1 0.53968254 ENSG00000183856 chr1:156548417-156548417;G/T missense_variant False IQGAP3@p.E1351K 1 0.25 ENSG00000183856 chr1:156533032-156533032;C/T missense_variant False IQGAP3@p.A282D 1 0.247863248 ENSG00000183856 chr1:156562619-156562619;G/T missense_variant False IQGAP2@p.S559F 1 0.492753623 ENSG00000145703 chr5:76631922-76631922;C/T missense_variant False IQCN@p.K49Sfs*149 1 0.289719626 ENSG00000130518 chr19:18267395-18267396;TC/- frameshift_variant False IQCN@p.I245M 1 0.279069767 ENSG00000130518 chr19:18266805-18266805;G/C missense_variant False IQCN@p.E177K 1 0.277777778 ENSG00000130518 chr19:18267011-18267011;C/T missense_variant False IQCE@p.A435V 1 0.174528302 ENSG00000106012 chr7:2593081-2593081;C/T missense_variant False IQCG@p.E294K 1 0.030092593 ENSG00000114473 chr3:197913889-197913889;C/T missense_variant False IQCG@p.E288Q 1 0.0625 ENSG00000114473 chr3:197913907-197913907;C/G missense_variant False IQCG@p.E125K 1 0.065436242 ENSG00000114473 chr3:197938690-197938690;C/T missense_variant False IQCF2@p.R69S 1 0.095238095 ENSG00000184345 chr3:51863082-51863082;G/T missense_variant False IQCF1@p.R123Q 1 0.423423423 ENSG00000173389 chr3:51895140-51895140;C/T missense_variant False IQCF1@p.F168L 1 0.04587156 ENSG00000173389 chr3:51895006-51895006;A/G missense_variant False IQCC@p.R58Q 1 0.603174603 ENSG00000160051 chr1:32206284-32206284;G/A missense_variant False IQCN@p.D764N 1 0.346153846 ENSG00000130518 chr19:18265250-18265250;C/T missense_variant False IQCC@p.R38Q 1 0.25 ENSG00000160051 chr1:32206224-32206224;G/A missense_variant False IQCC@p.G107V 1 0.071428571 ENSG00000160051 chr1:32206642-32206642;G/T missense_variant False IQCC@p.E93Q 1 0.06741573 ENSG00000160051 chr1:32206599-32206599;G/C missense_variant False IQCC@p.E4V 1 0.3125 ENSG00000160051 chr1:32205692-32205692;A/T missense_variant False IQCC@p.E240Q 1 0.283783784 ENSG00000160051 chr1:32207399-32207399;G/C missense_variant False IQCC@p.E135Q 1 0.311320755 ENSG00000160051 chr1:32206725-32206725;G/C missense_variant False IQCG@p.E2K 1 0.243243243 ENSG00000114473 chr3:197945624-197945624;C/T missense_variant False IQCG@p.E303K 1 0.082352941 ENSG00000114473 chr3:197912731-197912731;C/T missense_variant False IQCG@p.R317T 1 0.028571429 ENSG00000114473 chr3:197912688-197912688;C/G missense_variant False IQCH@p.D1018N 1 0.115942029 ENSG00000103599 chr15:67500714-67500714;G/A missense_variant False IQCH@p.D589N 1 0.136752137 ENSG00000103599 chr15:67395423-67395423;G/A missense_variant False IQCH@p.I510Nfs*14 1 0.242424242 ENSG00000103599 chr15:67388895-67388896;-/A frameshift_variant False IQCH@p.R116I 1 0.295454545 ENSG00000103599 chr15:67279472-67279472;G/T missense_variant False IQCH@p.R414Q 1 0.217741935 ENSG00000103599 chr15:67372598-67372598;G/A missense_variant False IQCH@p.S1023C 1 0.2 ENSG00000103599 chr15:67500730-67500730;C/G missense_variant False IQCH@p.S830N 1 0.157894737 ENSG00000103599 chr15:67421561-67421561;G/A missense_variant False IQCH@p.V162A 1 0.260869565 ENSG00000103599 chr15:67337072-67337072;T/C missense_variant False IQCH@p.V615A 1 0.617021277 ENSG00000103599 chr15:67395502-67395502;T/C missense_variant False IQCJ-SCHIP1@p.E530K 1 0.590909091 ENSG00000283154 chr3:159892138-159892138;G/A missense_variant False IQCJ-SCHIP1@p.M486I 1 0.124137931 ENSG00000283154 chr3:159888855-159888855;G/A missense_variant False IQCJ-SCHIP1@p.Q371H 1 0.313432836 ENSG00000283154 chr3:159886213-159886213;G/C missense_variant False IQCK@p.L140M 1 0.236842105 ENSG00000174628 chr16:19735394-19735394;C/A missense_variant False IQCK@p.Q244H 1 0.159090909 ENSG00000174628 chr16:19827067-19827067;G/C missense_variant False IQSEC2@p.L1016F 1 0.444444444 ENSG00000124313 chrX:53239262-53239262;C/G missense_variant False IQSEC2@p.N1001K 1 0.25 ENSG00000124313 chrX:53241796-53241796;A/T missense_variant False IQSEC2@p.Q1011H 1 0.363636364 ENSG00000124313 chrX:53239277-53239277;C/A missense_variant False IRAK4@p.M418I 1 0.195876289 ENSG00000198001 chr12:43786464-43786464;G/C missense_variant False IREB2@p.G759Efs*13 1 0.398406375 ENSG00000136381 chr15:78490712-78490712;G/- frameshift_variant False IREB2@p.G184V 1 0.169811321 ENSG00000136381 chr15:78466411-78466411;G/T missense_variant False IREB2@p.E738D 1 0.503597122 ENSG00000136381 chr15:78490651-78490651;A/C missense_variant False IREB2@p.D712N 1 0.46875 ENSG00000136381 chr15:78490479-78490479;G/A missense_variant False IREB2@p.D644N 1 0.198113208 ENSG00000136381 chr15:78488315-78488315;G/A missense_variant False IRAK4@p.Q139H 1 0.414285714 ENSG00000198001 chr12:43772289-43772289;G/C missense_variant False IRAK4@p.G189D 1 0.131147541 ENSG00000198001 chr12:43772987-43772987;G/A missense_variant False IRAK3@p.E178V 1 0.303571429 ENSG00000090376 chr12:66211542-66211542;A/T missense_variant False IRAK4@p.E194Q 1 0.222222222 ENSG00000198001 chr12:43773001-43773001;G/C missense_variant False IRAK4@p.D272H 1 0.06875 ENSG00000198001 chr12:43777727-43777727;G/C missense_variant False IRAK4@p.A335P 1 0.271428571 ENSG00000198001 chr12:43782368-43782368;G/C missense_variant False IRAK3@p.S152C 1 0.107142857 ENSG00000090376 chr12:66211464-66211464;C/G missense_variant False IRAK3@p.M436T 1 0.169014085 ENSG00000090376 chr12:66245255-66245255;T/C missense_variant False IRAK3@p.L443V 1 0.3 ENSG00000090376 chr12:66247707-66247707;C/G missense_variant False IREB2@p.S939L 1 0.134920635 ENSG00000136381 chr15:78498067-78498067;C/T missense_variant False IREB2@p.W69C 1 0.515625 ENSG00000136381 chr15:78463022-78463022;G/C missense_variant False IRF1@p.I318M 1 0.289473684 ENSG00000125347 chr5:132483975-132483975;G/C missense_variant False IRF1@p.L209V 1 0.305555556 ENSG00000125347 chr5:132486293-132486293;G/C missense_variant False IRF2@p.A52V 1 0.237113402 ENSG00000168310 chr4:184419501-184419501;G/A missense_variant False IRF2@p.E204Q 1 0.28 ENSG00000168310 chr4:184398999-184398999;C/G missense_variant False IRF2@p.E208Q 1 0.086956522 ENSG00000168310 chr4:184398987-184398987;C/G missense_variant False IRF2@p.Q309E 1 0.140350877 ENSG00000168310 chr4:184388883-184388883;G/C missense_variant False IRF2@p.S229F 1 0.389830508 ENSG00000168310 chr4:184398923-184398923;G/A missense_variant False IRF2BP1@p.E269K 1 0.29787234 ENSG00000170604 chr19:45884970-45884970;C/T missense_variant False IRF2BP1@p.G409S 1 0.184615385 ENSG00000170604 chr19:45884550-45884550;C/T missense_variant False IRF2BP1@p.S194C 1 0.261538462 ENSG00000170604 chr19:45885194-45885194;G/C missense_variant False IRF2BP2@p.F529L 1 0.06779661 ENSG00000168264 chr1:234607314-234607314;G/C missense_variant False IRF2BP2@p.L498V 1 0.101910828 ENSG00000168264 chr1:234607409-234607409;G/C missense_variant False IRF2BP2@p.S195L 1 0.333333333 ENSG00000168264 chr1:234608911-234608911;G/A missense_variant False IRF2BP2@p.S587W 1 0.133333333 ENSG00000168264 chr1:234607141-234607141;G/C missense_variant False IRF2BPL@p.D632H 1 0.270833333 ENSG00000119669 chr14:77025899-77025899;C/G missense_variant False IRAK3@p.I153M 1 0.461538462 ENSG00000090376 chr12:66211468-66211468;C/G missense_variant False IRAK3@p.D54N 1 0.598039216 ENSG00000090376 chr12:66203737-66203737;G/A missense_variant False IQSEC2@p.T670A 1 0.213592233 ENSG00000124313 chrX:53250568-53250568;T/C missense_variant False IQUB@p.K179N 1 0.578947368 ENSG00000164675 chr7:123503359-123503359;T/G missense_variant False IRAG1@p.R554T 1 0.350877193 ENSG00000072952 chr11:10604487-10604487;C/G missense_variant False IRAG1@p.L344V 1 0.307692308 ENSG00000072952 chr11:10626304-10626304;G/C missense_variant False IRAG1@p.E487Q 1 0.25 ENSG00000072952 chr11:10609840-10609840;C/G missense_variant False IQUB@p.S162L 1 0.184 ENSG00000164675 chr7:123509948-123509948;G/A missense_variant False IQUB@p.Q649E 1 0.081967213 ENSG00000164675 chr7:123461419-123461419;G/C missense_variant False IQUB@p.K355N 1 0.37254902 ENSG00000164675 chr7:123496865-123496865;T/G missense_variant False IQUB@p.D695A 1 0.491803279 ENSG00000164675 chr7:123457490-123457490;T/G missense_variant False IRAK2@p.S577C 1 0.3 ENSG00000134070 chr3:10239004-10239004;C/G missense_variant False IQSEC3@p.V499I 1 0.065217391 ENSG00000120645 chr12:138858-138858;G/A missense_variant False IQSEC3@p.S964L 1 0.675 ENSG00000120645 chr12:165810-165810;C/T missense_variant False IQSEC3@p.M700I 1 0.25 ENSG00000120645 chr12:141232-141232;G/A missense_variant False IQSEC3@p.K975E 1 0.24137931 ENSG00000120645 chr12:165842-165842;A/G missense_variant False IQSEC3@p.G1008E 1 0.312101911 ENSG00000120645 chr12:169064-169064;G/A missense_variant False IQSEC3@p.F898L 1 0.284090909 ENSG00000120645 chr12:163604-163604;C/G missense_variant False IRAG1@p.S486F 1 0.09375 ENSG00000072952 chr11:10609842-10609842;G/A missense_variant False IRAG1@p.S630L 1 0.453020134 ENSG00000072952 chr11:10601046-10601046;G/A missense_variant False IRAG2@p.D958N 1 0.648648649 ENSG00000118308 chr12:25069414-25069414;G/A missense_variant False IRAG2@p.D994N 1 0.121019108 ENSG00000118308 chr12:25079441-25079441;G/A missense_variant False IRAG2@p.L1248P 1 0.513513514 ENSG00000118308 chr12:25101314-25101314;T/C missense_variant False IRAG2@p.L1409F 1 0.237762238 ENSG00000118308 chr12:25107922-25107922;G/C missense_variant False IRAG2@p.N1241I 1 0.068493151 ENSG00000118308 chr12:25101293-25101293;A/T missense_variant False IRAK1@p.D97G 1 0.865384615 ENSG00000184216 chrX:154019445-154019445;T/C missense_variant False IRAK1@p.G14C 1 0.357142857 ENSG00000184216 chrX:154019773-154019773;C/A missense_variant False IRAK1@p.P156R 1 0.333333333 ENSG00000184216 chrX:154019048-154019048;G/C missense_variant False IRAK1BP1@p.E168K 1 0.275 ENSG00000146243 chr6:78897949-78897949;G/A missense_variant False IRAK1BP1@p.E210Q 1 0.128205128 ENSG00000146243 chr6:78898179-78898179;G/C missense_variant False IRAK1BP1@p.Q47P 1 0.206349206 ENSG00000146243 chr6:78867716-78867716;A/C missense_variant False IRAK2@p.K184N 1 0.141176471 ENSG00000134070 chr3:10213230-10213230;G/T missense_variant False IRAK2@p.K461E 1 0.078651685 ENSG00000134070 chr3:10234567-10234567;A/G missense_variant False IRAK2@p.L342V 1 0.1875 ENSG00000134070 chr3:10222646-10222646;T/G missense_variant False IRAK2@p.S144F 1 0.135802469 ENSG00000134070 chr3:10209595-10209595;C/T missense_variant False IQCB1@p.S148Y 1 0.485714286 ENSG00000173226 chr3:121808960-121808960;G/T missense_variant False IQCB1@p.R9S 1 0.125 ENSG00000173226 chr3:121828934-121828934;C/A missense_variant False IQCB1@p.R543S 1 0.287878788 ENSG00000173226 chr3:121770513-121770513;C/A missense_variant False INTS9@p.A109V 1 0.2 ENSG00000104299 chr8:28837712-28837712;G/A missense_variant False INTU@p.D643H 1 0.378640777 ENSG00000164066 chr4:127706625-127706625;G/C missense_variant False INTS9@p.V295M 1 0.4 ENSG00000104299 chr8:28793961-28793961;C/T missense_variant False INTS9@p.N37H 1 0.418604651 ENSG00000104299 chr8:28859464-28859464;T/G missense_variant False INTS9@p.F328S 1 0.053846154 ENSG00000104299 chr8:28793861-28793861;A/G missense_variant False INTS9@p.E473K 1 0.314606742 ENSG00000104299 chr8:28775905-28775905;C/T missense_variant False INTS9@p.E186Q 1 0.248175182 ENSG00000104299 chr8:28813545-28813545;C/G missense_variant False INTS8@p.Y499C 1 0.230769231 ENSG00000164941 chr8:94850080-94850080;A/G missense_variant False INTS7@p.R923I 1 0.196850394 ENSG00000143493 chr1:211941945-211941945;C/A missense_variant False INTS8@p.Q480H 1 0.305555556 ENSG00000164941 chr8:94850024-94850024;G/C missense_variant False INTS8@p.Q328E 1 0.273381295 ENSG00000164941 chr8:94838583-94838583;C/G missense_variant False INTS8@p.K590T 1 0.328467153 ENSG00000164941 chr8:94856793-94856793;A/C missense_variant False INTS8@p.E100Q 1 0.256410256 ENSG00000164941 chr8:94825060-94825060;G/C missense_variant False INTS8@p.A859V 1 0.264851485 ENSG00000164941 chr8:94873416-94873416;C/T missense_variant False INTS7@p.S224C 1 0.254237288 ENSG00000143493 chr1:212007335-212007335;G/C missense_variant False INTU@p.Q60H 1 0.470422535 ENSG00000164066 chr4:127643554-127643554;G/C missense_variant False INTU@p.S21F 1 0.306122449 ENSG00000164066 chr4:127633096-127633096;C/T missense_variant False INTU@p.T792I 1 0.62195122 ENSG00000164066 chr4:127710918-127710918;C/T missense_variant False INVS@p.A230S 1 0.346534653 ENSG00000119509 chr9:100240132-100240132;G/T missense_variant False INVS@p.E1010Q 1 0.328767123 ENSG00000119509 chr9:100297947-100297947;G/C missense_variant False INVS@p.E1041Q 1 0.142857143 ENSG00000119509 chr9:100300597-100300597;G/C missense_variant False INVS@p.E5K 1 0.111111111 ENSG00000119509 chr9:100104534-100104534;G/A missense_variant False INVS@p.L900M 1 0.6875 ENSG00000119509 chr9:100292955-100292955;C/A missense_variant False INVS@p.S1024F 1 0.095238095 ENSG00000119509 chr9:100297990-100297990;C/T missense_variant False INVS@p.W155G 1 0.407407407 ENSG00000119509 chr9:100229675-100229675;T/G missense_variant False IP6K1@p.D416N 1 0.114583333 ENSG00000176095 chr3:49727202-49727202;C/T missense_variant False IP6K1@p.E144Q 1 0.484375 ENSG00000176095 chr3:49738216-49738216;C/G missense_variant False IP6K1@p.E198K 1 0.272727273 ENSG00000176095 chr3:49732815-49732815;C/T missense_variant False IP6K1@p.S197F 1 0.357142857 ENSG00000176095 chr3:49732817-49732817;G/A missense_variant False IP6K2@p.G253S 1 0.176136364 ENSG00000068745 chr3:48689561-48689561;C/T missense_variant False IP6K2@p.H184Y 1 0.173652695 ENSG00000068745 chr3:48691361-48691361;G/A missense_variant False IP6K2@p.R255L 1 0.265625 ENSG00000068745 chr3:48689554-48689554;C/A missense_variant False INTS7@p.S149L 1 0.303571429 ENSG00000143493 chr1:212016949-212016949;G/A missense_variant False INTS7@p.L197F 1 0.166666667 ENSG00000143493 chr1:212007415-212007415;C/A missense_variant False IP6K3@p.R185C 1 0.147540984 ENSG00000161896 chr6:33726767-33726767;G/A missense_variant False INTS4@p.R836Q 1 0.5 ENSG00000149262 chr11:77891404-77891404;C/T missense_variant False INTS5@p.S507F 1 0.554794521 ENSG00000185085 chr11:62648560-62648560;G/A missense_variant False INTS5@p.S356C 1 0.303448276 ENSG00000185085 chr11:62649013-62649013;G/C missense_variant False INTS5@p.Q958E 1 0.334763948 ENSG00000185085 chr11:62647208-62647208;G/C missense_variant False INTS5@p.L845V 1 0.465517241 ENSG00000185085 chr11:62647547-62647547;G/C missense_variant False INTS5@p.L1014V 1 0.505617978 ENSG00000185085 chr11:62647040-62647040;G/C missense_variant False INTS5@p.E905Q 1 0.627118644 ENSG00000185085 chr11:62647367-62647367;C/G missense_variant False INTS4@p.H582Y 1 0.040892193 ENSG00000149262 chr11:77921360-77921360;G/A missense_variant False INTS7@p.G127E 1 0.137614679 ENSG00000143493 chr1:212017015-212017015;C/T missense_variant False INTS4@p.E752A 1 0.384615385 ENSG00000149262 chr11:77894323-77894323;T/G missense_variant False INTS4@p.E246K 1 0.166666667 ENSG00000149262 chr11:77958807-77958807;C/T missense_variant False INTS3@p.T381M 1 0.120879121 ENSG00000143624 chr1:153757756-153757756;C/T missense_variant False INTS3@p.S911C 1 0.109375 ENSG00000143624 chr1:153772351-153772351;C/G missense_variant False INTS3@p.S39L 1 0.044444444 ENSG00000143624 chr1:153728750-153728750;C/T missense_variant False INTS3@p.R346C 1 0.311827957 ENSG00000143624 chr1:153757650-153757650;C/T missense_variant False INTS6@p.D193N 1 0.104046243 ENSG00000102786 chr13:51395336-51395336;C/T missense_variant False INTS6@p.E781Q 1 0.447619048 ENSG00000102786 chr13:51369074-51369074;C/G missense_variant False INTS6@p.R558T 1 0.302325581 ENSG00000102786 chr13:51376104-51376104;C/G missense_variant False INTS6@p.S494L 1 0.446601942 ENSG00000102786 chr13:51378360-51378360;G/A missense_variant False INTS6@p.T158N 1 0.341463415 ENSG00000102786 chr13:51395440-51395440;G/T missense_variant False INTS6L@p.D130N 1 0.328125 ENSG00000165359 chrX:135546428-135546428;G/A missense_variant False INTS6L@p.E182K 1 0.865384615 ENSG00000165359 chrX:135546816-135546816;G/A missense_variant False INTS6L@p.E76K 1 0.911764706 ENSG00000165359 chrX:135545459-135545459;G/A missense_variant False INTS6L@p.H269D 1 0.129682997 ENSG00000165359 chrX:135549704-135549704;C/G missense_variant False INTS6L@p.K467N 1 0.137931034 ENSG00000165359 chrX:135572928-135572928;A/T missense_variant False INTS6L@p.L120* 1 0.433333333 ENSG00000165359 chrX:135546392-135546392;T/- frameshift_variant False INTS6L@p.P576L 1 0.68627451 ENSG00000165359 chrX:135575180-135575180;C/T missense_variant False INTS6L@p.Q218K 1 0.275 ENSG00000165359 chrX:135547175-135547175;C/A missense_variant False INTS6L@p.S716C 1 0.047826087 ENSG00000165359 chrX:135579926-135579926;C/G missense_variant False INTS7@p.D694N 1 0.35483871 ENSG00000143493 chr1:211967912-211967912;C/T missense_variant False INTS7@p.E135K 1 0.221649485 ENSG00000143493 chr1:212016992-212016992;C/T missense_variant False INTS7@p.E832K 1 0.245454545 ENSG00000143493 chr1:211944891-211944891;C/T missense_variant False IP6K3@p.D260N 1 0.192307692 ENSG00000161896 chr6:33723175-33723175;C/T missense_variant False IP6K3@p.R307Q 1 0.191780822 ENSG00000161896 chr6:33723033-33723033;C/T missense_variant False IQCB1@p.R384W 1 0.18115942 ENSG00000173226 chr3:121788412-121788412;G/A missense_variant False IPO8@p.Q913E 1 0.215384615 ENSG00000133704 chr12:30634245-30634245;G/C missense_variant False IPO9@p.L147V 1 0.180327869 ENSG00000198700 chr1:201848519-201848519;C/G missense_variant False IPO9@p.E988K 1 0.202380952 ENSG00000198700 chr1:201875175-201875175;G/A missense_variant False IPO9@p.E941Q 1 0.232876712 ENSG00000198700 chr1:201874360-201874360;G/C missense_variant False IPO9@p.E842Q 1 0.333333333 ENSG00000198700 chr1:201871275-201871275;G/C missense_variant False IPO8@p.T962I 1 0.295081967 ENSG00000133704 chr12:30634097-30634097;G/A missense_variant False IPO8@p.R321S 1 0.4 ENSG00000133704 chr12:30671045-30671045;G/T missense_variant False IPO8@p.I207M 1 0.136363636 ENSG00000133704 chr12:30680500-30680500;G/C missense_variant False IPO7@p.L150F 1 0.445945946 ENSG00000205339 chr11:9410055-9410055;C/T missense_variant False IPO8@p.F292L 1 0.142857143 ENSG00000133704 chr12:30674023-30674023;G/C missense_variant False IPO8@p.E600K 1 0.257142857 ENSG00000133704 chr12:30661224-30661224;C/T missense_variant False IPO8@p.E167K 1 0.117647059 ENSG00000133704 chr12:30680622-30680622;C/T missense_variant False IPO8@p.D509N 1 0.42 ENSG00000133704 chr12:30663558-30663558;C/T missense_variant False IPO7@p.W228C 1 0.272 ENSG00000205339 chr11:9417106-9417106;G/T missense_variant False IPO7@p.R503K 1 0.226190476 ENSG00000205339 chr11:9429113-9429113;G/A missense_variant False IPO9@p.R74H 1 0.256410256 ENSG00000198700 chr1:201847336-201847336;G/A missense_variant False IPO9@p.S322Y 1 0.639344262 ENSG00000198700 chr1:201855177-201855177;C/A missense_variant False IPO9@p.V928I 1 0.272727273 ENSG00000198700 chr1:201874321-201874321;G/A missense_variant False IPP@p.D11N 1 0.304568528 ENSG00000197429 chr1:45746381-45746381;C/T missense_variant False IPP@p.E197K 1 0.328467153 ENSG00000197429 chr1:45741036-45741036;C/T missense_variant False IPP@p.E402K 1 0.092436975 ENSG00000197429 chr1:45717000-45717000;C/T missense_variant False IPP@p.G86V 1 0.25 ENSG00000197429 chr1:45746155-45746155;C/A missense_variant False IPP@p.R523_V537del 1 0.130434783 ENSG00000197429 chr1:45700110-45700154;AACATACAGAAGACCATTGACTGCCACAACACACATGCCTGCTCT/- inframe_deletion False IPPK@p.K91N 1 0.873239437 ENSG00000127080 chr9:92652592-92652592;C/G missense_variant False IPPK@p.P145A 1 0.205882353 ENSG00000127080 chr9:92648130-92648130;G/C missense_variant False IPPK@p.V62I 1 0.411042945 ENSG00000127080 chr9:92656497-92656497;C/T missense_variant False IQCA1@p.Q757H 1 0.86440678 ENSG00000132321 chr2:236331461-236331461;C/G missense_variant False IQCA1@p.R437S 1 0.25 ENSG00000132321 chr2:236392250-236392250;C/G missense_variant False IQCA1@p.S158G 1 0.185185185 ENSG00000132321 chr2:236488176-236488176;T/C missense_variant False IQCB1@p.E22Q 1 0.163265306 ENSG00000173226 chr3:121828897-121828897;C/G missense_variant False IQCB1@p.E500Q 1 0.325925926 ENSG00000173226 chr3:121772626-121772626;C/G missense_variant False IQCB1@p.G594E 1 0.090909091 ENSG00000173226 chr3:121770361-121770361;C/T missense_variant False IPO7@p.L844V 1 0.03652968 ENSG00000205339 chr11:9438120-9438120;C/G missense_variant False IPO7@p.G1032R 1 0.4 ENSG00000205339 chr11:9445171-9445171;G/C missense_variant False IPCEF1@p.M396I 1 0.148148148 ENSG00000074706 chr6:154159954-154159954;C/T missense_variant False IPO11@p.Q293E 1 0.317073171 ENSG00000086200 chr5:62483149-62483149;C/G missense_variant False IPO4@p.C222Y 1 0.208333333 ENSG00000196497 chr14:24186969-24186969;C/T missense_variant False IPO13@p.L601F 1 0.082568807 ENSG00000117408 chr1:43958512-43958512;C/T missense_variant False IPO13@p.E830K 1 0.152777778 ENSG00000117408 chr1:43966747-43966747;G/A missense_variant False IPO13@p.E657K 1 0.373134328 ENSG00000117408 chr1:43958830-43958830;G/A missense_variant False IPO13@p.D745H 1 0.073170732 ENSG00000117408 chr1:43960999-43960999;G/C missense_variant False IPO11@p.S43L 1 0.4375 ENSG00000086200 chr5:62437407-62437407;C/T missense_variant False IPO11@p.E589Q 1 0.154639175 ENSG00000086200 chr5:62506340-62506340;G/C missense_variant False IPO7@p.G1016V 1 0.152173913 ENSG00000205339 chr11:9445124-9445124;G/T missense_variant False IPMK@p.F137C 1 0.538461538 ENSG00000151151 chr10:58216281-58216281;A/C missense_variant False IPMK@p.E241Q 1 0.8 ENSG00000151151 chr10:58196606-58196606;C/G missense_variant False IPMK@p.D270G 1 0.256410256 ENSG00000151151 chr10:58196518-58196518;T/C missense_variant False IPCEF1@p.Y119H 1 0.306122449 ENSG00000074706 chr6:154221291-154221291;A/G missense_variant False IPCEF1@p.T203K 1 0.085470085 ENSG00000074706 chr6:154199967-154199967;G/T missense_variant False IPCEF1@p.S35L 1 0.210526316 ENSG00000074706 chr6:154246730-154246730;G/A missense_variant False IPO4@p.E646K 1 0.596774194 ENSG00000196497 chr14:24183832-24183832;C/T missense_variant False IPO4@p.Q607H 1 0.06 ENSG00000196497 chr14:24184046-24184046;C/G missense_variant False IPO4@p.S47L 1 0.186046512 ENSG00000196497 chr14:24188568-24188568;G/A missense_variant False IPO5@p.A5T 1 0.5 ENSG00000065150 chr13:97976709-97976709;G/A missense_variant False IPO5@p.D333H 1 0.171428571 ENSG00000065150 chr13:97997614-97997614;G/C missense_variant False IPO5@p.E131K 1 0.186046512 ENSG00000065150 chr13:97989088-97989088;G/A missense_variant False IPO5@p.G160A 1 0.222222222 ENSG00000065150 chr13:97990137-97990137;G/C missense_variant False IPO5@p.H153R 1 0.5 ENSG00000065150 chr13:97989155-97989155;A/G missense_variant False IPO5@p.I363del 1 0.25 ENSG00000065150 chr13:98000624-98000626;ATT/- inframe_deletion False IPO5@p.K705Nfs*2 1 0.184782609 ENSG00000065150 chr13:98012302-98012302;C/- frameshift_variant False IPO7@p.C504Y 1 0.785714286 ENSG00000205339 chr11:9429116-9429116;G/A missense_variant False IPO7@p.D121H 1 0.37037037 ENSG00000205339 chr11:9409968-9409968;G/C missense_variant False IPO7@p.D194N 1 0.512658228 ENSG00000205339 chr11:9414355-9414355;G/A missense_variant False IPO7@p.D951G 1 0.402985075 ENSG00000205339 chr11:9440611-9440611;A/G missense_variant False IPO7@p.E499Q 1 0.169230769 ENSG00000205339 chr11:9429100-9429100;G/C missense_variant False IPO7@p.E72K 1 0.461538462 ENSG00000205339 chr11:9408533-9408533;G/A missense_variant False IPO7@p.F651L 1 0.916666667 ENSG00000205339 chr11:9433725-9433725;C/G missense_variant False IRF2BPL@p.G761E 1 0.344827586 ENSG00000119669 chr14:77025511-77025511;C/T missense_variant False IRF2BPL@p.T782N 1 0.40625 ENSG00000119669 chr14:77025448-77025448;G/T missense_variant False INTS3@p.E974K 1 0.106741573 ENSG00000143624 chr1:153772950-153772950;G/A missense_variant False ITGA6@p.S839L 1 0.24375 ENSG00000091409 chr2:172488035-172488035;C/T missense_variant False ITGA7@p.L415V 1 0.263157895 ENSG00000135424 chr12:55698464-55698464;G/C missense_variant False ITGA7@p.L1055F 1 0.289473684 ENSG00000135424 chr12:55688226-55688226;C/G missense_variant False ITGA7@p.H911Mfs*125 1 0.107142857 ENSG00000135424 chr12:55693254-55693254;G/- frameshift_variant False ITGA7@p.F806L 1 0.242424242 ENSG00000135424 chr12:55694514-55694514;G/C missense_variant False ITGA7@p.F456L 1 0.108433735 ENSG00000135424 chr12:55697983-55697983;G/T missense_variant False ITGA7@p.D109N 1 0.428571429 ENSG00000135424 chr12:55703060-55703060;C/T missense_variant False ITGA6@p.S267C 1 0.495327103 ENSG00000091409 chr2:172472798-172472798;C/G missense_variant False ITGA8@p.D964H 1 0.0625 ENSG00000077943 chr10:15531142-15531142;C/G missense_variant False ITGA6@p.R938K 1 0.153191489 ENSG00000091409 chr2:172491040-172491040;G/A missense_variant False ITGA6@p.P271S 1 0.356321839 ENSG00000091409 chr2:172472809-172472809;C/T missense_variant False ITGA6@p.L989V 1 0.205357143 ENSG00000091409 chr2:172491290-172491290;C/G missense_variant False ITGA6@p.L297* 1 0.137931034 ENSG00000091409 chr2:172472886-172472886;C/- frameshift_variant False ITGA6@p.E921K 1 0.208333333 ENSG00000091409 chr2:172489623-172489623;G/A missense_variant False ITGA6@p.E678Q 1 0.288135593 ENSG00000091409 chr2:172487083-172487083;G/C missense_variant False ITGA7@p.R147T 1 0.053380783 ENSG00000135424 chr12:55701129-55701129;C/G missense_variant False ITGA8@p.E851K 1 0.236111111 ENSG00000077943 chr10:15572297-15572297;C/T missense_variant False IRF3@p.G337A 1 0.4 ENSG00000126456 chr19:49660801-49660801;C/G missense_variant False ITGA8@p.T307M 1 0.288888889 ENSG00000077943 chr10:15659027-15659027;G/A missense_variant False ITGA9@p.G957R 1 0.231578947 ENSG00000144668 chr3:37785058-37785058;G/C missense_variant False ITGA9@p.F937L 1 0.472727273 ENSG00000144668 chr3:37785000-37785000;C/A missense_variant False ITGA9@p.F256L 1 0.210526316 ENSG00000144668 chr3:37506025-37506025;C/A missense_variant False ITGA9@p.E537Q 1 0.173913043 ENSG00000144668 chr3:37542505-37542505;G/C missense_variant False ITGA9@p.A627Sfs*3 1 0.18115942 ENSG00000144668 chr3:37653753-37653766;GCAGACCTGCAGCT/- frameshift_variant False ITGA8@p.V75G 1 0.109756098 ENSG00000077943 chr10:15718885-15718885;A/C missense_variant False ITGA8@p.R763K 1 0.086956522 ENSG00000077943 chr10:15592228-15592228;C/T missense_variant False ITGA8@p.E851V 1 0.232876712 ENSG00000077943 chr10:15572296-15572296;T/A missense_variant False ITGA8@p.R355G 1 0.191780822 ENSG00000077943 chr10:15646990-15646990;T/C missense_variant False ITGA8@p.Q176H 1 0.28 ENSG00000077943 chr10:15684044-15684044;C/G missense_variant False ITGA8@p.P871S 1 0.184 ENSG00000077943 chr10:15572237-15572237;G/A missense_variant False ITGA8@p.H803D 1 0.491935484 ENSG00000077943 chr10:15575560-15575560;G/C missense_variant False ITGA8@p.G91R 1 0.346666667 ENSG00000077943 chr10:15718838-15718838;C/T missense_variant False ITGA8@p.G384E 1 0.351351351 ENSG00000077943 chr10:15646902-15646902;C/T missense_variant False ITGA5@p.R353Q 1 0.659090909 ENSG00000161638 chr12:54405333-54405333;C/T missense_variant False ITGA5@p.I241N 1 0.890410959 ENSG00000161638 chr12:54408205-54408205;A/T missense_variant False ITGA5@p.E801K 1 0.127192982 ENSG00000161638 chr12:54401465-54401465;C/T missense_variant False ITGA2B@p.F85L 1 0.214285714 ENSG00000005961 chr17:44386067-44386067;A/G missense_variant False ITGA3@p.H356Y 1 0.298507463 ENSG00000005884 chr17:50072092-50072092;C/T missense_variant False ITGA3@p.E63K 1 0.4 ENSG00000005884 chr17:50056626-50056626;G/A missense_variant False ITGA2B@p.S256Y 1 0.148148148 ENSG00000005961 chr17:44384980-44384980;G/T missense_variant False ITGA2B@p.R551W 1 0.4 ENSG00000005961 chr17:44380103-44380103;G/A missense_variant False ITGA2B@p.G651S 1 0.489361702 ENSG00000005961 chr17:44378505-44378505;C/T missense_variant False ITGA2B@p.G472R 1 0.385321101 ENSG00000005961 chr17:44380625-44380625;C/T missense_variant False ITGA2B@p.E92K 1 0.962962963 ENSG00000005961 chr17:44386046-44386046;C/T missense_variant False ITGA5@p.D583H 1 0.3 ENSG00000161638 chr12:54403654-54403654;C/G missense_variant False ITGA2B@p.E173K 1 0.545454545 ENSG00000005961 chr17:44385608-44385608;C/T missense_variant False ITGA2B@p.E1037D 1 0.607142857 ENSG00000005961 chr17:44372373-44372373;C/G missense_variant False ITGA2B@p.A728S 1 0.178082192 ENSG00000005961 chr17:44377703-44377703;C/A missense_variant False ITGA2B@p.A728D 1 0.183098592 ENSG00000005961 chr17:44377702-44377702;G/T missense_variant False ITGA2B@p.A408V 1 0.079365079 ENSG00000005961 chr17:44381049-44381049;G/A missense_variant False ITGA2@p.S637F 1 0.2 ENSG00000164171 chr5:53065944-53065944;C/T missense_variant False ITGA3@p.P845H 1 0.090909091 ENSG00000005884 chr17:50079209-50079209;C/A missense_variant False ITGA3@p.S202G 1 0.115942029 ENSG00000005884 chr17:50068245-50068245;A/G missense_variant False ITGA3@p.W220C 1 0.465517241 ENSG00000005884 chr17:50068301-50068301;G/T missense_variant False ITGA4@p.C852Y 1 0.109090909 ENSG00000115232 chr2:181530540-181530540;G/A missense_variant False ITGA4@p.D287N 1 0.307692308 ENSG00000115232 chr2:181482378-181482378;G/A missense_variant False ITGA4@p.E137K 1 0.212121212 ENSG00000115232 chr2:181475049-181475049;G/A missense_variant False ITGA4@p.E957D 1 0.452380952 ENSG00000115232 chr2:181534358-181534358;G/T missense_variant False ITGA4@p.G303E 1 0.153333333 ENSG00000115232 chr2:181482518-181482518;G/A missense_variant False ITGA4@p.G451R 1 0.328244275 ENSG00000115232 chr2:181495382-181495382;G/C missense_variant False ITGA4@p.L992V 1 0.260869565 ENSG00000115232 chr2:181534906-181534906;C/G missense_variant False ITGA4@p.R12Q 1 0.384615385 ENSG00000115232 chr2:181457689-181457689;G/A missense_variant False ITGA4@p.R553T 1 0.18487395 ENSG00000115232 chr2:181498740-181498740;G/C missense_variant False ITGA4@p.S433C 1 0.423913043 ENSG00000115232 chr2:181494771-181494771;C/G missense_variant False ITGA4@p.S537C 1 0.23880597 ENSG00000115232 chr2:181498692-181498692;C/G missense_variant False ITGA4@p.S653G 1 0.357142857 ENSG00000115232 chr2:181522225-181522225;A/G missense_variant False ITGA4@p.T615Qfs*2 1 0.384615385 ENSG00000115232 chr2:181509799-181509799;A/- frameshift_variant False ITGA4@p.Y1024N 1 0.094594595 ENSG00000115232 chr2:181535498-181535498;T/A missense_variant False ITGA9@p.H90D 1 0.306666667 ENSG00000144668 chr3:37471089-37471089;C/G missense_variant False ITGA9@p.V454M 1 0.50877193 ENSG00000144668 chr3:37526058-37526058;G/A missense_variant False ITGAD@p.R487Q 1 0.203007519 ENSG00000156886 chr16:31411179-31411179;G/A missense_variant False ITGAV@p.M939I 1 0.327586207 ENSG00000138448 chr2:186675714-186675714;G/A missense_variant False ITGAX@p.S440P 1 0.108695652 ENSG00000140678 chr16:31362712-31362712;T/C missense_variant False ITGAX@p.D985N 1 0.3 ENSG00000140678 chr16:31379841-31379841;G/A missense_variant False ITGAV@p.Y251C 1 0.191304348 ENSG00000138448 chr2:186636202-186636202;A/G missense_variant False ITGAV@p.R10C 1 0.181818182 ENSG00000138448 chr2:186590366-186590366;C/T missense_variant False ITGAV@p.P204R 1 0.4125 ENSG00000138448 chr2:186633354-186633354;C/G missense_variant False ITGAV@p.N488T 1 0.213483146 ENSG00000138448 chr2:186652047-186652047;A/C missense_variant False ITGAV@p.L349Q 1 0.295597484 ENSG00000138448 chr2:186641475-186641475;T/A missense_variant False ITGAM@p.S578F 1 0.546875 ENSG00000169896 chr16:31321263-31321263;C/T missense_variant False ITGAV@p.I841M 1 0.522727273 ENSG00000138448 chr2:186668851-186668851;C/G missense_variant False ITGAV@p.I463M 1 0.112903226 ENSG00000138448 chr2:186649877-186649877;C/G missense_variant False ITGAV@p.I100F 1 0.333333333 ENSG00000138448 chr2:186602133-186602133;A/T missense_variant False ITGAV@p.H621Y 1 0.32 ENSG00000138448 chr2:186663771-186663771;C/T missense_variant False ITGAV@p.F507L 1 0.327586207 ENSG00000138448 chr2:186654665-186654665;C/G missense_variant False ITGAV@p.E45K 1 0.307692308 ENSG00000138448 chr2:186590471-186590471;G/A missense_variant False ITGB1@p.D505H 1 0.213114754 ENSG00000150093 chr10:32912081-32912081;C/G missense_variant False ITGB1@p.G251S 1 0.317460317 ENSG00000150093 chr10:32925906-32925906;C/T missense_variant False ITGB1@p.Q113E 1 0.303278689 ENSG00000150093 chr10:32929861-32929861;G/C missense_variant False ITGB1BP1@p.D125H 1 0.654545455 ENSG00000119185 chr2:9408121-9408121;C/G missense_variant False ITGB1BP1@p.S197Y 1 0.274193548 ENSG00000119185 chr2:9406847-9406847;G/T missense_variant False ITGB1BP2@p.E67K 1 0.36 ENSG00000147166 chrX:71302438-71302438;G/A missense_variant False ITGB1BP2@p.L3V 1 0.965517241 ENSG00000147166 chrX:71301813-71301813;C/G missense_variant False ITGB1BP2@p.P70H 1 0.421052632 ENSG00000147166 chrX:71302448-71302448;C/A missense_variant False ITGB2@p.E220K 1 0.231707317 ENSG00000160255 chr21:44901575-44901575;C/T missense_variant False ITGB2@p.E600D 1 0.1875 ENSG00000160255 chr21:44889425-44889425;C/G missense_variant False ITGB2@p.E692Q 1 0.328125 ENSG00000160255 chr21:44888771-44888771;C/G missense_variant False ITGB2@p.G735D 1 0.115942029 ENSG00000160255 chr21:44886851-44886851;C/T missense_variant False ITGB2@p.L742F 1 0.393442623 ENSG00000160255 chr21:44886831-44886831;G/A missense_variant False ITGB2@p.S668R 1 0.352941176 ENSG00000160255 chr21:44888841-44888841;G/C missense_variant False ITGB2@p.V366M 1 0.395833333 ENSG00000160255 chr21:44895030-44895030;C/T missense_variant False ITGB3@p.E501K 1 0.163265306 ENSG00000259207 chr17:47292379-47292379;G/A missense_variant False ITGB3@p.E81K 1 0.453608247 ENSG00000259207 chr17:47283429-47283429;G/A missense_variant False ITGAV@p.D197N 1 0.434782609 ENSG00000138448 chr2:186633332-186633332;G/A missense_variant False ITGAM@p.S188C 1 0.246153846 ENSG00000169896 chr16:31271851-31271851;C/G missense_variant False ITGAD@p.T886I 1 0.058823529 ENSG00000156886 chr16:31418341-31418341;C/T missense_variant False ITGAE@p.R177C 1 0.658823529 ENSG00000083457 chr17:3761082-3761082;G/A missense_variant False ITGAL@p.D820E 1 0.124137931 ENSG00000005844 chr16:30506808-30506808;C/A missense_variant False ITGAL@p.D742N 1 0.416666667 ENSG00000005844 chr16:30504253-30504253;G/A missense_variant False ITGAE@p.W755C 1 0.337349398 ENSG00000083457 chr17:3745818-3745818;C/G missense_variant False ITGAE@p.V104L 1 0.192307692 ENSG00000083457 chr17:3761920-3761920;C/G missense_variant False ITGAE@p.R746T 1 0.885245902 ENSG00000083457 chr17:3745846-3745846;C/G missense_variant False ITGAE@p.R497T 1 0.342857143 ENSG00000083457 chr17:3753820-3753820;C/G missense_variant False ITGAE@p.H116Y 1 0.720930233 ENSG00000083457 chr17:3761490-3761490;G/A missense_variant False ITGAM@p.S160R 1 0.245989305 ENSG00000169896 chr16:31271006-31271006;C/G missense_variant False ITGAE@p.G641E 1 0.3375 ENSG00000083457 chr17:3750454-3750454;C/T missense_variant False ITGAE@p.E545Q 1 0.444444444 ENSG00000083457 chr17:3753325-3753325;C/G missense_variant False ITGAE@p.E202K 1 0.411764706 ENSG00000083457 chr17:3760282-3760282;C/T missense_variant False ITGAE@p.A24S 1 0.192307692 ENSG00000083457 chr17:3777625-3777625;C/A missense_variant False ITGAD@p.Y333H 1 0.266055046 ENSG00000156886 chr16:31407904-31407904;T/C missense_variant False ITGAD@p.V271F 1 0.272727273 ENSG00000156886 chr16:31407621-31407621;G/T missense_variant False ITGAL@p.E1086K 1 0.401197605 ENSG00000005844 chr16:30519884-30519884;G/A missense_variant False ITGAL@p.E737K 1 0.5 ENSG00000005844 chr16:30504238-30504238;G/A missense_variant False ITGAL@p.E851K 1 0.310344828 ENSG00000005844 chr16:30510403-30510403;G/A missense_variant False ITGAL@p.K416E 1 0.082802548 ENSG00000005844 chr16:30494244-30494244;A/G missense_variant False ITGAL@p.L125V 1 0.081632653 ENSG00000005844 chr16:30479136-30479136;C/G missense_variant False ITGAL@p.L259F 1 0.269230769 ENSG00000005844 chr16:30483879-30483879;C/T missense_variant False ITGAL@p.P994H 1 0.4 ENSG00000005844 chr16:30517653-30517653;C/A missense_variant False ITGAL@p.R613W 1 0.194444444 ENSG00000005844 chr16:30499078-30499078;C/T missense_variant False ITGAL@p.S639L 1 0.196428571 ENSG00000005844 chr16:30499157-30499157;C/T missense_variant False ITGAM@p.A1013D 1 0.184210526 ENSG00000169896 chr16:31330139-31330139;C/A missense_variant False ITGAM@p.E547K 1 0.088888889 ENSG00000169896 chr16:31297883-31297883;G/A missense_variant False ITGAM@p.F1044L 1 0.447761194 ENSG00000169896 chr16:31330376-31330376;C/G missense_variant False ITGAM@p.F627L 1 0.455172414 ENSG00000169896 chr16:31321503-31321503;C/G missense_variant False ITGAM@p.G363S 1 0.458333333 ENSG00000169896 chr16:31276923-31276923;G/A missense_variant False ITGAM@p.H557L 1 0.368421053 ENSG00000169896 chr16:31297914-31297914;A/T missense_variant False ITGAM@p.M169I 1 0.057971014 ENSG00000169896 chr16:31271033-31271033;G/A missense_variant False ITGAM@p.Q710H 1 0.434782609 ENSG00000169896 chr16:31324523-31324523;G/T missense_variant False ITGA2@p.S1036F 1 0.242424242 ENSG00000164171 chr5:53081659-53081659;C/T missense_variant False ITGA2@p.I596V 1 0.131147541 ENSG00000164171 chr5:53065095-53065095;A/G missense_variant False ITGA2@p.F681L 1 0.19047619 ENSG00000164171 chr5:53067215-53067215;T/C missense_variant False IRS4@p.R413T 1 0.466666667 ENSG00000133124 chrX:108735107-108735107;C/G missense_variant False IRX1@p.P397L 1 0.184782609 ENSG00000170549 chr5:3600138-3600138;C/T missense_variant False IRX1@p.P214Q 1 0.137096774 ENSG00000170549 chr5:3599589-3599589;C/A missense_variant False IRX1@p.A67V 1 0.222222222 ENSG00000170549 chr5:3596305-3596305;C/T missense_variant False IRX1@p.A396P 1 0.391304348 ENSG00000170549 chr5:3600134-3600134;G/C missense_variant False IRS4@p.S802T 1 0.133561644 ENSG00000133124 chrX:108733941-108733941;A/T missense_variant False IRS4@p.S62F 1 0.4 ENSG00000133124 chrX:108736160-108736160;G/A missense_variant False IRS4@p.R13K 1 0.388888889 ENSG00000133124 chrX:108736307-108736307;C/T missense_variant False IRS2@p.P1222L 1 0.359375 ENSG00000185950 chr13:109782389-109782389;G/A missense_variant False IRS4@p.R1221Q 1 0.284745763 ENSG00000133124 chrX:108732683-108732683;C/T missense_variant False IRS4@p.R119W 1 0.073170732 ENSG00000133124 chrX:108735990-108735990;G/A missense_variant False IRS4@p.G565V 1 0.199074074 ENSG00000133124 chrX:108734651-108734651;C/A missense_variant False IRS4@p.G215A 1 0.45 ENSG00000133124 chrX:108735701-108735701;C/G missense_variant False IRS4@p.E738Q 1 0.170731707 ENSG00000133124 chrX:108734133-108734133;C/G missense_variant False IRS4@p.E448K 1 0.076923077 ENSG00000133124 chrX:108735003-108735003;C/T missense_variant False IRX1@p.P397S 1 0.16 ENSG00000170549 chr5:3600137-3600137;C/T missense_variant False IRX1@p.P415A 1 0.389830508 ENSG00000170549 chr5:3600191-3600191;C/G missense_variant False IRX1@p.Q200K 1 0.24137931 ENSG00000170549 chr5:3599546-3599546;C/A missense_variant False IRX1@p.R130Q 1 0.84 ENSG00000170549 chr5:3599337-3599337;G/A missense_variant False IRX1@p.R263W 1 0.235294118 ENSG00000170549 chr5:3599735-3599735;C/T missense_variant False IRX1@p.S429L 1 0.5 ENSG00000170549 chr5:3600234-3600234;C/T missense_variant False IRX2@p.N176D 1 0.268965517 ENSG00000170561 chr5:2749511-2749511;T/C missense_variant False IRX2@p.P109L 1 0.465517241 ENSG00000170561 chr5:2749711-2749711;G/A missense_variant False IRX2@p.R409L 1 0.303571429 ENSG00000170561 chr5:2748482-2748482;C/A missense_variant False IRX2@p.Y117N 1 0.163265306 ENSG00000170561 chr5:2749688-2749688;A/T missense_variant False IRX4@p.E152K 1 0.315789474 ENSG00000113430 chr5:1879786-1879786;C/T missense_variant False IRX4@p.E233K 1 0.25 ENSG00000113430 chr5:1879543-1879543;C/T missense_variant False IRX4@p.E318K 1 0.5 ENSG00000113430 chr5:1878577-1878577;C/T missense_variant False IRX4@p.R151C 1 0.35483871 ENSG00000113430 chr5:1879789-1879789;G/A missense_variant False IRX4@p.S108L 1 0.210526316 ENSG00000113430 chr5:1880809-1880809;G/A missense_variant False IRX5@p.D187N 1 0.330645161 ENSG00000176842 chr16:54932807-54932807;G/A missense_variant False IRX5@p.E217K 1 0.35483871 ENSG00000176842 chr16:54932897-54932897;G/A missense_variant False IRS4@p.D698N 1 0.214285714 ENSG00000133124 chrX:108734253-108734253;C/T missense_variant False IRS2@p.K211N 1 0.346153846 ENSG00000185950 chr13:109785421-109785421;C/G missense_variant False IRX5@p.H438Y 1 0.244274809 ENSG00000176842 chr16:54933733-54933733;C/T missense_variant False IRF5@p.P83A 1 0.263157895 ENSG00000128604 chr7:128945896-128945896;C/G missense_variant False IRF7@p.C471F 1 0.287356322 ENSG00000185507 chr11:612784-612784;C/A missense_variant False IRF6@p.V8D 1 0.216216216 ENSG00000117595 chr1:209801391-209801391;A/T missense_variant False IRF6@p.R35Tfs*13 1 0.350515464 ENSG00000117595 chr1:209801311-209801312;-/T frameshift_variant False IRF6@p.Q82E 1 0.279411765 ENSG00000117595 chr1:209796483-209796483;G/C missense_variant False IRF6@p.P39A 1 0.114285714 ENSG00000117595 chr1:209801299-209801299;G/C missense_variant False IRF5@p.S4F 1 0.073529412 ENSG00000128604 chr7:128942092-128942092;C/T missense_variant False IRF5@p.K116N 1 0.08411215 ENSG00000128604 chr7:128945997-128945997;G/C missense_variant False IRS2@p.G633R 1 0.5 ENSG00000185950 chr13:109784157-109784157;C/T missense_variant False IRF5@p.F64L 1 0.25 ENSG00000128604 chr7:128942273-128942273;C/G missense_variant False IRF4@p.R240G 1 0.212121212 ENSG00000137265 chr6:398908-398908;A/G missense_variant False IRF4@p.K94N 1 0.117283951 ENSG00000137265 chr6:394886-394886;G/T missense_variant False IRF4@p.A320P 1 0.296296296 ENSG00000137265 chr6:401636-401636;G/C missense_variant False IRF3@p.Y411S 1 0.444444444 ENSG00000126456 chr19:49659700-49659700;T/G missense_variant False IRF3@p.T253K 1 0.191489362 ENSG00000126456 chr19:49662172-49662172;G/T missense_variant False IRF7@p.F430L 1 0.354166667 ENSG00000185507 chr11:613104-613104;G/T missense_variant False IRF8@p.W177R 1 0.381818182 ENSG00000140968 chr16:85913212-85913212;T/C missense_variant False IRF9@p.G27E 1 0.447552448 ENSG00000213928 chr14:24162224-24162224;G/A missense_variant False IRF9@p.P341L 1 0.444444444 ENSG00000213928 chr14:24165877-24165877;C/T missense_variant False IRGC@p.G353D 1 0.147058824 ENSG00000124449 chr19:43719616-43719616;G/A missense_variant False IRGC@p.R345Q 1 0.275 ENSG00000124449 chr19:43719592-43719592;G/A missense_variant False IRGC@p.R75H 1 0.333333333 ENSG00000124449 chr19:43718782-43718782;G/A missense_variant False IRGC@p.T177M 1 0.409090909 ENSG00000124449 chr19:43719088-43719088;C/T missense_variant False IRGQ@p.I24M 1 0.222222222 ENSG00000167378 chr19:43595267-43595267;G/C missense_variant False IRS1@p.A363D 1 0.5 ENSG00000169047 chr2:226797651-226797651;G/T missense_variant False IRS1@p.E1023K 1 0.153153153 ENSG00000169047 chr2:226795672-226795672;C/T missense_variant False IRS1@p.E224K 1 0.377358491 ENSG00000169047 chr2:226798069-226798069;C/T missense_variant False IRS1@p.E939Q 1 0.413793103 ENSG00000169047 chr2:226795924-226795924;C/G missense_variant False IRS1@p.F1119L 1 0.425925926 ENSG00000169047 chr2:226795384-226795384;A/G missense_variant False IRS1@p.I675V 1 0.482142857 ENSG00000169047 chr2:226796716-226796716;T/C missense_variant False IRS1@p.R520W 1 0.151898734 ENSG00000169047 chr2:226797181-226797181;G/A missense_variant False IRS1@p.R522Q 1 0.273972603 ENSG00000169047 chr2:226797174-226797174;C/T missense_variant False IRX5@p.G441A 1 0.208333333 ENSG00000176842 chr16:54933743-54933743;G/C missense_variant False IRX5@p.L402V 1 0.166666667 ENSG00000176842 chr16:54933625-54933625;C/G missense_variant False ITGA2@p.E919K 1 0.258064516 ENSG00000164171 chr5:53075234-53075234;G/A missense_variant False ITCH@p.L288V 1 0.113207547 ENSG00000289720 chr20:34440214-34440214;C/G missense_variant False ITFG1@p.A372E 1 0.150793651 ENSG00000129636 chr16:47260651-47260651;G/T missense_variant False ITCH@p.S298Y 1 0.209302326 ENSG00000289720 chr20:34440245-34440245;C/A missense_variant False ITCH@p.S240C 1 0.555555556 ENSG00000289720 chr20:34438548-34438548;C/G missense_variant False ITCH@p.R643K 1 0.555555556 ENSG00000289720 chr20:34479776-34479776;G/A missense_variant False ITCH@p.Q401E 1 0.072463768 ENSG00000289720 chr20:34445399-34445399;C/G missense_variant False ITCH@p.Q21E 1 0.175141243 ENSG00000289720 chr20:34393872-34393872;C/G missense_variant False ITCH@p.E751K 1 0.246153846 ENSG00000289720 chr20:34489300-34489300;G/A missense_variant False IST1@p.D362H 1 0.353233831 ENSG00000182149 chr16:71927757-71927757;G/C missense_variant False ITCH@p.D527Gfs*18 1 0.172011662 ENSG00000289720 chr20:34470080-34470092;ACTTCAAAGCAAA/- frameshift_variant False ISYNA1@p.S259L 1 0.125 ENSG00000105655 chr19:18436231-18436231;G/A missense_variant False ISYNA1@p.F442L 1 0.148648649 ENSG00000105655 chr19:18435414-18435414;A/G missense_variant False ISY1-RAB43@p.P321S 1 0.333333333 ENSG00000261796 chr3:129095060-129095060;G/A missense_variant False ISY1-RAB43@p.P142S 1 0.314814815 ENSG00000261796 chr3:129134949-129134949;G/A missense_variant False ISX@p.C10Y 1 0.482142857 ENSG00000175329 chr22:35067116-35067116;G/A missense_variant False ITFG2@p.R9C 1 0.181034483 ENSG00000111203 chr12:2812785-2812785;C/T missense_variant False ITGA10@p.Q663H 1 0.3 ENSG00000143127 chr1:145899275-145899275;C/G missense_variant False ITGA10@p.R1117W 1 0.236363636 ENSG00000143127 chr1:145893250-145893250;G/A missense_variant False ITGA10@p.S1005Y 1 0.169230769 ENSG00000143127 chr1:145896002-145896002;G/T missense_variant False ITGA10@p.S902C 1 0.093220339 ENSG00000143127 chr1:145897050-145897050;G/C missense_variant False ITGA11@p.C1070R 1 0.72972973 ENSG00000137809 chr15:68307663-68307663;A/G missense_variant False ITGA11@p.D323N 1 0.103448276 ENSG00000137809 chr15:68350710-68350710;C/T missense_variant False ITGA11@p.E954K 1 0.25 ENSG00000137809 chr15:68313801-68313801;C/T missense_variant False ITGA11@p.G207A 1 0.424242424 ENSG00000137809 chr15:68357280-68357280;C/G missense_variant False ITGA11@p.K357N 1 0.444444444 ENSG00000137809 chr15:68348890-68348890;C/A missense_variant False ITGA11@p.M103T 1 0.222222222 ENSG00000137809 chr15:68364756-68364756;A/G missense_variant False ITGA11@p.R636H 1 0.525 ENSG00000137809 chr15:68328257-68328257;C/T missense_variant False ITGA1@p.C878F 1 0.164948454 ENSG00000213949 chr5:52927603-52927603;G/T missense_variant False ITGA1@p.R734Q 1 0.5 ENSG00000213949 chr5:52920377-52920377;G/A missense_variant False ITGA1@p.R743K 1 0.260869565 ENSG00000213949 chr5:52920404-52920404;G/A missense_variant False ITGA1@p.R75T 1 0.254545455 ENSG00000213949 chr5:52861488-52861488;G/C missense_variant False ITGA1@p.S284C 1 0.1875 ENSG00000213949 chr5:52887892-52887892;C/G missense_variant False IST1@p.H284Y 1 0.362637363 ENSG00000182149 chr16:71923339-71923339;C/T missense_variant False ISOC2@p.S16C 1 0.116504854 ENSG00000063241 chr19:55456440-55456440;G/C missense_variant False IRX5@p.R400W 1 0.178571429 ENSG00000176842 chr16:54933619-54933619;C/T missense_variant False IRX6@p.R338K 1 0.142857143 ENSG00000159387 chr16:55328991-55328991;G/A missense_variant False ISG20L2@p.L8Q 1 0.171428571 ENSG00000143319 chr1:156727630-156727630;A/T missense_variant False ISG20L2@p.K128N 1 0.144444444 ENSG00000143319 chr1:156727269-156727269;C/G missense_variant False ISG20@p.T110R 1 0.258064516 ENSG00000172183 chr15:88652210-88652210;C/G missense_variant False ISG20@p.E46Q 1 0.118421053 ENSG00000172183 chr15:88639502-88639502;G/C missense_variant False ISCA2@p.D109N 1 0.168831169 ENSG00000165898 chr14:74494860-74494860;G/A missense_variant False IRX6@p.T359I 1 0.133333333 ENSG00000159387 chr16:55329054-55329054;C/T missense_variant False IRX6@p.L144F 1 0.3 ENSG00000159387 chr16:55327604-55327604;G/C missense_variant False ISOC2@p.D171N 1 0.096385542 ENSG00000063241 chr19:55455015-55455015;C/T missense_variant False IRX6@p.G323E 1 0.194174757 ENSG00000159387 chr16:55328946-55328946;G/A missense_variant False IRX6@p.E301Q 1 0.279069767 ENSG00000159387 chr16:55328879-55328879;G/C missense_variant False IRX5@p.T125M 1 0.061728395 ENSG00000176842 chr16:54932622-54932622;C/T missense_variant False IRX5@p.S437C 1 0.323353293 ENSG00000176842 chr16:54933731-54933731;C/G missense_variant False IRX5@p.S29L 1 0.388888889 ENSG00000176842 chr16:54931284-54931284;C/T missense_variant False IRX5@p.S19L 1 0.307692308 ENSG00000176842 chr16:54931254-54931254;C/T missense_variant False ISG20L2@p.S169F 1 0.382022472 ENSG00000143319 chr1:156727147-156727147;G/A missense_variant False ISL1@p.K237N 1 0.363636364 ENSG00000016082 chr5:51389878-51389878;G/C missense_variant False ISL1@p.L299S 1 0.308823529 ENSG00000016082 chr5:51391404-51391404;T/C missense_variant False ISL1@p.M210I 1 0.542857143 ENSG00000016082 chr5:51389797-51389797;G/T missense_variant False ISL2@p.S325Y 1 0.481481481 ENSG00000159556 chr15:76341729-76341729;C/A missense_variant False ISLR2@p.D678H 1 0.285714286 ENSG00000167178 chr15:74134786-74134786;G/C missense_variant False ISLR2@p.E41Q 1 0.105769231 ENSG00000167178 chr15:74132875-74132875;G/C missense_variant False ISLR2@p.I628M 1 0.161290323 ENSG00000167178 chr15:74134638-74134638;C/G missense_variant False ISLR@p.P296L 1 0.221311475 ENSG00000129009 chr15:74175745-74175745;C/T missense_variant False ISM1@p.A250T 1 0.166666667 ENSG00000101230 chr20:13288644-13288644;G/A missense_variant False ISM1@p.D295_W300del 1 0.153846154 ENSG00000101230 chr20:13298947-13298964;GACAGCTGTGAGCGCTGG/- inframe_deletion False ISM1@p.P68Q 1 0.213114754 ENSG00000101230 chr20:13270568-13270568;C/A missense_variant False ISM1@p.S57L 1 0.185185185 ENSG00000101230 chr20:13270535-13270535;C/T missense_variant False ISM2@p.E570K 1 0.404411765 ENSG00000100593 chr14:77475603-77475603;C/T missense_variant False ISM2@p.P230L 1 0.443686007 ENSG00000100593 chr14:77482606-77482606;G/A missense_variant False ISM2@p.S481C 1 0.111111111 ENSG00000100593 chr14:77475869-77475869;G/C missense_variant False ISOC1@p.P181L 1 0.272727273 ENSG00000066583 chr5:129105297-129105297;C/T missense_variant False INTS3@p.G17V 1 0.175438596 ENSG00000143624 chr1:153728684-153728684;G/T missense_variant False INTS2@p.S165C 1 0.256410256 ENSG00000108506 chr17:61921790-61921790;G/C missense_variant False IGSF11@p.I243T 1 0.194117647 ENSG00000144847 chr3:118904774-118904774;A/G missense_variant False IL1RAPL1@p.S576T 1 1.0 ENSG00000169306 chrX:29955456-29955456;G/C missense_variant False IL1RAPL2@p.M246I 1 0.656716418 ENSG00000189108 chrX:105484353-105484353;G/T missense_variant False IL1RAPL2@p.L581I 1 0.123076923 ENSG00000189108 chrX:105767341-105767341;C/A missense_variant False IL1RAPL2@p.L131F 1 0.117647059 ENSG00000189108 chrX:105233854-105233854;G/C missense_variant False IL1RAPL2@p.E624Q 1 0.070422535 ENSG00000189108 chrX:105767470-105767470;G/C missense_variant False IL1RAPL1@p.V632I 1 0.352941176 ENSG00000169306 chrX:29955623-29955623;G/A missense_variant False IL1RAPL1@p.V414L 1 0.96875 ENSG00000169306 chrX:29954560-29954560;G/T missense_variant False IL1RAPL1@p.Q17E 1 0.918918919 ENSG00000169306 chrX:28789392-28789392;C/G missense_variant False IL1RL1@p.E481K 1 0.101123596 ENSG00000115602 chr2:102351691-102351691;G/A missense_variant False IL1RAPL1@p.I290T 1 0.552631579 ENSG00000169306 chrX:29917554-29917554;T/C missense_variant False IL1RAPL1@p.E396Q 1 0.097087379 ENSG00000169306 chrX:29941779-29941779;G/C missense_variant False IL1RAPL1@p.E396D 1 0.25 ENSG00000169306 chrX:29941781-29941781;A/T missense_variant False IL1RAPL1@p.E230K 1 0.103448276 ENSG00000169306 chrX:29399293-29399293;G/A missense_variant False IL1RAPL1@p.D436N 1 0.086956522 ENSG00000169306 chrX:29954626-29954626;G/A missense_variant False IL1RAP@p.V498L 1 0.307317073 ENSG00000196083 chr3:190648484-190648484;G/C missense_variant False IL1RL1@p.E146Q 1 0.172839506 ENSG00000115602 chr2:102340261-102340261;G/C missense_variant False IL1RL2@p.K391T 1 0.384615385 ENSG00000115598 chr2:102232999-102232999;A/C missense_variant False IL6R@p.E51Q 1 0.236111111 ENSG00000160712 chr1:154429261-154429261;G/C missense_variant False IL20RB@p.W170C 1 0.347826087 ENSG00000174564 chr3:136989544-136989544;G/C missense_variant False IL21R@p.P533S 1 0.340425532 ENSG00000103522 chr16:27449263-27449263;C/T missense_variant False IL21R@p.P259L 1 0.46875 ENSG00000103522 chr16:27445267-27445267;C/T missense_variant False IL21R@p.K231E 1 0.239130435 ENSG00000103522 chr16:27445182-27445182;A/G missense_variant False IL21@p.S154F 1 0.326086957 ENSG00000138684 chr4:122612738-122612738;G/A missense_variant False IL21@p.F140L 1 0.142857143 ENSG00000138684 chr4:122612869-122612869;G/C missense_variant False IL21@p.E9V 1 0.128787879 ENSG00000138684 chr4:122620986-122620986;T/A missense_variant False IL20RB@p.N47S 1 0.348148148 ENSG00000174564 chr3:136980517-136980517;A/G missense_variant False IL1RL2@p.R279Q 1 0.428571429 ENSG00000115598 chr2:102219064-102219064;G/A missense_variant False IL20RA@p.V198M 1 0.25 ENSG00000016402 chr6:137008731-137008731;C/T missense_variant False IL20RA@p.R192K 1 0.118110236 ENSG00000016402 chr6:137009321-137009321;C/T missense_variant False IL20RA@p.P303R 1 0.131578947 ENSG00000016402 chr6:137002312-137002312;G/C missense_variant False IL20@p.K26N 1 0.155963303 ENSG00000162891 chr1:206865930-206865930;G/C missense_variant False IL1RN@p.D163H 1 0.22173913 ENSG00000136689 chr2:113132824-113132824;G/C missense_variant False IL1RL2@p.R291W 1 0.171875 ENSG00000115598 chr2:102219897-102219897;C/T missense_variant False IL1RAP@p.I35S 1 0.153846154 ENSG00000196083 chr3:190604167-190604167;T/G missense_variant False IL1RAP@p.E279K 1 0.233333333 ENSG00000196083 chr3:190627382-190627382;G/A missense_variant False IL1RAP@p.E257G 1 0.257142857 ENSG00000196083 chr3:190623410-190623410;A/G missense_variant False IL17RE@p.D325N 1 0.464285714 ENSG00000163701 chr3:9911035-9911035;G/A missense_variant False IL18BP@p.E181K 1 0.470588235 ENSG00000137496 chr11:72001817-72001817;G/A missense_variant False IL17REL@p.R289H 1 0.205479452 ENSG00000188263 chr22:49997696-49997696;C/T missense_variant False IL17REL@p.R192Q 1 0.364705882 ENSG00000188263 chr22:49999317-49999317;C/T missense_variant False IL17REL@p.P294L 1 0.161290323 ENSG00000188263 chr22:49997413-49997413;G/A missense_variant False IL17REL@p.H98D 1 0.06097561 ENSG00000188263 chr22:50000520-50000520;G/C missense_variant False IL17RE@p.L473V 1 0.448818898 ENSG00000163701 chr3:9914747-9914747;C/G missense_variant False IL17RD@p.R660Q 1 0.379310345 ENSG00000144730 chr3:57097724-57097724;C/T missense_variant False IL1R2@p.R295H 1 0.151898734 ENSG00000115590 chr2:102024665-102024665;G/A missense_variant False IL17RD@p.R353Q 1 0.236363636 ENSG00000144730 chr3:57101285-57101285;C/T missense_variant False IL17RD@p.Q523Sfs*66 1 0.153846154 ENSG00000144730 chr3:57098137-57098137;C/- frameshift_variant False IL17RD@p.D366H 1 0.133333333 ENSG00000144730 chr3:57101247-57101247;C/G missense_variant False IL17RC@p.S577L 1 0.4 ENSG00000288550 chr3:9932853-9932853;C/T missense_variant False IL17RC@p.L559del 1 0.234042553 ENSG00000288550 chr3:9932674-9932676;TCC/- inframe_deletion False IL17RC@p.I535M 1 0.540540541 ENSG00000288550 chr3:9932612-9932612;C/G missense_variant False IL18BP@p.E73Q 1 0.62745098 ENSG00000137496 chr11:72000539-72000539;G/C missense_variant False IL18R1@p.E428K 1 0.404761905 ENSG00000115604 chr2:102396542-102396542;G/A missense_variant False IL18R1@p.S510L 1 0.519480519 ENSG00000115604 chr2:102396789-102396789;C/T missense_variant False IL18RAP@p.A553D 1 0.311787072 ENSG00000115607 chr2:102452039-102452039;C/A missense_variant False IL18RAP@p.E95Q 1 0.0625 ENSG00000115607 chr2:102424023-102424023;G/C missense_variant False IL18RAP@p.P524S 1 0.312977099 ENSG00000115607 chr2:102451951-102451951;C/T missense_variant False IL18RAP@p.Q400H 1 0.547945205 ENSG00000115607 chr2:102447197-102447197;G/C missense_variant False IL18RAP@p.R332C 1 0.387096774 ENSG00000115607 chr2:102445262-102445262;C/T missense_variant False IL18RAP@p.S349P 1 0.317460317 ENSG00000115607 chr2:102445313-102445313;T/C missense_variant False IL18RAP@p.T587R 1 0.204081633 ENSG00000115607 chr2:102452141-102452141;C/G missense_variant False IL18RAP@p.T590A 1 0.254901961 ENSG00000115607 chr2:102452149-102452149;A/G missense_variant False IL19@p.I104dup 1 0.373239437 ENSG00000142224 chr1:206839948-206839949;-/ATC inframe_insertion False IL19@p.N135I 1 0.302325581 ENSG00000142224 chr1:206841044-206841044;A/T missense_variant False IL1F10@p.G64E 1 0.144736842 ENSG00000136697 chr2:113074795-113074795;G/A missense_variant False IL1R1@p.S67C 1 0.075949367 ENSG00000115594 chr2:102164912-102164912;C/G missense_variant False IL1R2@p.D130N 1 0.276315789 ENSG00000115590 chr2:102015926-102015926;G/A missense_variant False IL1R2@p.I224T 1 0.465116279 ENSG00000115590 chr2:102019795-102019795;T/C missense_variant False IL21R@p.Q224K 1 0.211538462 ENSG00000103522 chr16:27444704-27444704;C/A missense_variant False IL21R@p.S194L 1 0.25 ENSG00000103522 chr16:27444615-27444615;C/T missense_variant False IL22RA1@p.D477N 1 0.34375 ENSG00000142677 chr1:24121101-24121101;C/T missense_variant False IL37@p.R151C 1 0.216666667 ENSG00000125571 chr2:112918603-112918603;C/T missense_variant False IL4I1@p.G52R 1 0.283783784 ENSG00000104951 chr19:49895913-49895913;C/G missense_variant False IL4I1@p.E207K 1 0.198412698 ENSG00000104951 chr19:49891422-49891422;C/T missense_variant False IL4I1@p.A326E 1 0.5 ENSG00000104951 chr19:49890397-49890397;G/T missense_variant False IL3RA@p.R273G 1 0.390804598 ENSG00000292332 chrX:1365195-1365195;A/G missense_variant False IL3RA@p.R237C 1 0.477124183 ENSG00000292332 chrX:1356313-1356313;C/T missense_variant False IL3RA@p.F281L 1 0.358490566 ENSG00000292332 chrX:1365221-1365221;C/G missense_variant False IL37@p.E210K 1 0.25 ENSG00000125571 chr2:112918780-112918780;G/A missense_variant False IL34@p.P215A 1 0.25 ENSG00000157368 chr16:70660101-70660101;C/G missense_variant False IL37@p.D191Y 1 0.319148936 ENSG00000125571 chr2:112918723-112918723;G/T missense_variant False IL36B@p.L144V 1 0.408450704 ENSG00000136696 chr2:113022739-113022739;G/C missense_variant False IL36B@p.H107R 1 0.125 ENSG00000136696 chr2:113026174-113026174;T/C missense_variant False IL36B@p.D93H 1 0.166666667 ENSG00000136696 chr2:113026217-113026217;C/G missense_variant False IL36A@p.Q16K 1 0.379746835 ENSG00000136694 chr2:113006009-113006009;C/A missense_variant False IL36A@p.L25F 1 0.093167702 ENSG00000136694 chr2:113006036-113006036;C/T missense_variant False IL4I1@p.P537L 1 0.261904762 ENSG00000104951 chr19:49889764-49889764;G/A missense_variant False IL4I1@p.R499C 1 0.310344828 ENSG00000104951 chr19:49889879-49889879;G/A missense_variant False IL4I1@p.S178L 1 0.28 ENSG00000104951 chr19:49894302-49894302;G/A missense_variant False IL4R@p.E418K 1 0.166666667 ENSG00000077238 chr16:27362604-27362604;G/A missense_variant False IL4R@p.G113C 1 0.333333333 ENSG00000077238 chr16:27344996-27344996;G/T missense_variant False IL4R@p.M822I 1 0.473214286 ENSG00000077238 chr16:27363818-27363818;G/A missense_variant False IL4R@p.Q63R 1 0.082191781 ENSG00000077238 chr16:27342238-27342238;A/G missense_variant False IL4R@p.Y713H 1 0.38372093 ENSG00000077238 chr16:27363489-27363489;T/C missense_variant False IL5@p.E121K 1 0.518518519 ENSG00000113525 chr5:132541855-132541855;C/T missense_variant False IL5RA@p.P54T 1 0.432432432 ENSG00000091181 chr3:3102743-3102743;G/T missense_variant False IL5RA@p.Q168P 1 0.18556701 ENSG00000091181 chr3:3098155-3098155;T/G missense_variant False IL5RA@p.Q56E 1 0.428571429 ENSG00000091181 chr3:3102737-3102737;G/C missense_variant False IL5RA@p.R317K 1 0.222222222 ENSG00000091181 chr3:3092268-3092268;C/T missense_variant False IL6@p.E134D 1 0.441176471 ENSG00000136244 chr7:22729591-22729591;G/C missense_variant False IL6@p.H192Y 1 0.084745763 ENSG00000136244 chr7:22731508-22731508;C/T missense_variant False IL6@p.K74N 1 0.064102564 ENSG00000136244 chr7:22728704-22728704;G/C missense_variant False IL6@p.M145I 1 0.146341463 ENSG00000136244 chr7:22729624-22729624;G/A missense_variant False IL34@p.S229L 1 0.129032258 ENSG00000157368 chr16:70660144-70660144;C/T missense_variant False IL33@p.R78S 1 0.256410256 ENSG00000137033 chr9:6251156-6251156;A/T missense_variant False IL22RA1@p.G314R 1 0.34375 ENSG00000142677 chr1:24121590-24121590;C/T missense_variant False IL23R@p.E229K 1 0.692307692 ENSG00000162594 chr1:67206942-67206942;G/A missense_variant False IL27RA@p.E412D 1 0.076923077 ENSG00000104998 chr19:14049075-14049075;G/T missense_variant False IL27RA@p.D143N 1 0.668918919 ENSG00000104998 chr19:14039803-14039803;G/A missense_variant False IL27@p.Q3Rfs*87 1 0.23880597 ENSG00000197272 chr16:28506804-28506805;-/C frameshift_variant False IL26@p.R129T 1 0.25 ENSG00000111536 chr12:68202061-68202061;C/G missense_variant False IL24@p.Q29R 1 0.55 ENSG00000162892 chr1:206899361-206899361;A/G missense_variant False IL23R@p.S424R 1 0.110638298 ENSG00000162594 chr1:67258510-67258510;T/G missense_variant False IL23R@p.E170K 1 0.651162791 ENSG00000162594 chr1:67200753-67200753;G/A missense_variant False IL33@p.L249M 1 0.385964912 ENSG00000137033 chr9:6256100-6256100;C/A missense_variant False IL22RA2@p.M72I 1 0.214285714 ENSG00000164485 chr6:137156836-137156836;C/T missense_variant False IL22RA2@p.E227G 1 0.461538462 ENSG00000164485 chr6:137145736-137145736;T/C missense_variant False IL22RA2@p.E190G 1 0.324324324 ENSG00000164485 chr6:137147795-137147795;T/C missense_variant False IL22RA1@p.V66Wfs*16 1 0.212765957 ENSG00000142677 chr1:24137290-24137290;C/- frameshift_variant False IL22RA1@p.S561C 1 0.14953271 ENSG00000142677 chr1:24120848-24120848;G/C missense_variant False IL22RA1@p.S439R 1 0.523809524 ENSG00000142677 chr1:24121213-24121213;G/T missense_variant False IL27RA@p.R132Q 1 0.157142857 ENSG00000104998 chr19:14039771-14039771;G/A missense_variant False IL2RA@p.C19Y 1 0.101851852 ENSG00000134460 chr10:6062096-6062096;C/T missense_variant False IL2RB@p.A319E 1 0.272727273 ENSG00000100385 chr22:37128796-37128796;G/T missense_variant False IL2RB@p.P438A 1 0.5 ENSG00000100385 chr22:37128440-37128440;G/C missense_variant False IL2RG@p.D324H 1 1.0 ENSG00000147168 chrX:71107876-71107876;C/G missense_variant False IL2RG@p.E334Q 1 1.0 ENSG00000147168 chrX:71107846-71107846;C/G missense_variant False IL2RG@p.L28V 1 0.590909091 ENSG00000147168 chrX:71111458-71111458;G/C missense_variant False IL2RG@p.Q126H 1 0.327586207 ENSG00000147168 chrX:71110580-71110580;T/A missense_variant False IL2RG@p.R222H 1 0.405405405 ENSG00000147168 chrX:71109320-71109320;C/T missense_variant False IL31RA@p.C17* 1 0.255639098 ENSG00000164509 chr5:55851621-55851627;TCCGCAA/- frameshift_variant False IL31RA@p.R712C 1 0.177419355 ENSG00000164509 chr5:55916959-55916959;C/T missense_variant False IL31RA@p.S336Y 1 0.373873874 ENSG00000164509 chr5:55900070-55900070;C/A missense_variant False IL31RA@p.W146R 1 0.415584416 ENSG00000164509 chr5:55872433-55872433;T/A missense_variant False IL32@p.S202L 1 0.233766234 ENSG00000008517 chr16:3069255-3069255;C/T missense_variant False IL32@p.V19* 1 0.278481013 ENSG00000008517 chr16:3067415-3067415;G/- frameshift_variant False IL33@p.H221Y 1 0.066666667 ENSG00000137033 chr9:6256016-6256016;C/T missense_variant False IL33@p.L126I 1 0.285714286 ENSG00000137033 chr9:6252898-6252898;C/A missense_variant False IL17RB@p.E33Q 1 0.364341085 ENSG00000056736 chr3:53849666-53849666;G/C missense_variant False IL17RA@p.S629C 1 0.333333333 ENSG00000177663 chr22:17109105-17109105;C/G missense_variant False IL17RA@p.E123K 1 0.189542484 ENSG00000177663 chr22:17098831-17098831;G/A missense_variant False IHO1@p.E205D 1 0.35483871 ENSG00000173421 chr3:49255472-49255472;G/C missense_variant False IK@p.L170V 1 0.357142857 ENSG00000113141 chr5:140654041-140654041;C/G missense_variant False IHO1@p.S291F 1 0.453125 ENSG00000173421 chr3:49256369-49256369;C/T missense_variant False IHO1@p.S271F 1 0.627906977 ENSG00000173421 chr3:49256309-49256309;C/T missense_variant False IHO1@p.L160V 1 0.282051282 ENSG00000173421 chr3:49244679-49244679;C/G missense_variant False IHO1@p.K293E 1 0.489795918 ENSG00000173421 chr3:49256374-49256374;A/G missense_variant False IHO1@p.F318C 1 0.476635514 ENSG00000173421 chr3:49256450-49256450;T/G missense_variant False IHO1@p.D591H 1 0.206521739 ENSG00000173421 chr3:49257268-49257268;G/C missense_variant False IGSF9B@p.P980L 1 0.333333333 ENSG00000080854 chr11:133920786-133920786;G/A missense_variant False IHO1@p.D583N 1 0.086666667 ENSG00000173421 chr3:49257244-49257244;G/A missense_variant False IHH@p.R73H 1 0.373626374 ENSG00000163501 chr2:219060250-219060250;C/T missense_variant False IGSF9B@p.V985M 1 0.272727273 ENSG00000080854 chr11:133920772-133920772;C/T missense_variant False IGSF9B@p.S542L 1 0.333333333 ENSG00000080854 chr11:133929677-133929677;G/A missense_variant False IGSF9B@p.R1225G 1 0.323529412 ENSG00000080854 chr11:133920052-133920052;G/C missense_variant False IGSF9B@p.R1225C 1 0.607843137 ENSG00000080854 chr11:133920052-133920052;G/A missense_variant False IK@p.R334W 1 0.18 ENSG00000113141 chr5:140658988-140658988;C/T missense_variant False IK@p.T160I 1 0.9375 ENSG00000113141 chr5:140654012-140654012;C/T missense_variant False IKBIP@p.D338N 1 0.106382979 ENSG00000166130 chr12:98613626-98613626;C/T missense_variant False IKBIP@p.E3Q 1 0.222222222 ENSG00000166130 chr12:98644695-98644695;C/G missense_variant False IKBIP@p.E82Q 1 0.138461538 ENSG00000166130 chr12:98634349-98634349;C/G missense_variant False IKBIP@p.E98Q 1 0.307692308 ENSG00000166130 chr12:98634301-98634301;C/G missense_variant False IKBIP@p.K9N 1 0.25 ENSG00000166130 chr12:98644675-98644675;C/A missense_variant False IKBIP@p.R121C 1 0.478873239 ENSG00000166130 chr12:98614277-98614277;G/A missense_variant False IKBKB@p.E274del 1 0.266666667 ENSG00000104365 chr8:42316228-42316230;GGA/- inframe_deletion False IKBKB@p.I30M 1 0.313432836 ENSG00000104365 chr8:42272190-42272190;C/G missense_variant False IKBKB@p.L315F 1 0.394736842 ENSG00000104365 chr8:42316724-42316724;G/C missense_variant False IKBKB@p.P363R 1 0.18 ENSG00000104365 chr8:42316867-42316867;C/G missense_variant False IKBKB@p.S239Tfs*2 1 0.135135135 ENSG00000104365 chr8:42314340-42314367;GAAGAGTGAGGTGGACATTGTTGTTAGC/- frameshift_variant False IKBKE@p.E355K 1 0.13253012 ENSG00000263528 chr1:206479013-206479013;G/A missense_variant False IKBKE@p.S303I 1 0.064516129 ENSG00000263528 chr1:206478255-206478255;G/T missense_variant False IKBKE@p.V505A 1 0.258064516 ENSG00000263528 chr1:206485204-206485204;T/C missense_variant False IKBKG@p.P48A 1 0.431818182 ENSG00000269335 chrX:154552144-154552144;C/G missense_variant False IGSF9B@p.R1182W 1 0.376923077 ENSG00000080854 chr11:133920181-133920181;G/A missense_variant False IGSF9B@p.P441S 1 0.277777778 ENSG00000080854 chr11:133931500-133931500;G/A missense_variant False IKZF1@p.A365V 1 0.25 ENSG00000185811 chr7:50400161-50400161;C/T missense_variant False IGSF1@p.W1014L 1 0.142857143 ENSG00000147255 chrX:131275621-131275621;C/A missense_variant False IGSF3@p.R1054H 1 0.177777778 ENSG00000143061 chr1:116579565-116579565;C/T missense_variant False IGSF3@p.Q1090H 1 0.192307692 ENSG00000143061 chr1:116579456-116579456;C/A missense_variant False IGSF3@p.P330S 1 0.461538462 ENSG00000143061 chr1:116608176-116608176;G/A missense_variant False IGSF3@p.F389L 1 0.37398374 ENSG00000143061 chr1:116607997-116607997;G/T missense_variant False IGSF21@p.R53H 1 0.08411215 ENSG00000117154 chr1:18227985-18227985;G/A missense_variant False IGSF21@p.R126M 1 0.294117647 ENSG00000117154 chr1:18334963-18334963;G/T missense_variant False IGSF1@p.T1026I 1 0.980769231 ENSG00000147255 chrX:131275585-131275585;G/A missense_variant False IGSF9B@p.L248V 1 0.481481481 ENSG00000080854 chr11:133936132-133936132;G/C missense_variant False IGSF1@p.S1206L 1 0.296296296 ENSG00000147255 chrX:131274733-131274733;G/A missense_variant False IGSF1@p.Q1326H 1 0.516129032 ENSG00000147255 chrX:131273829-131273829;C/G missense_variant False IGSF1@p.I198F 1 0.184210526 ENSG00000147255 chrX:131285254-131285254;T/A missense_variant False IGSF1@p.G648R 1 0.105263158 ENSG00000147255 chrX:131278560-131278560;C/G missense_variant False IGSF1@p.E43Q 1 0.68 ENSG00000147255 chrX:131286019-131286019;C/G missense_variant False IGSF11@p.S346C 1 0.254658385 ENSG00000144847 chr3:118902779-118902779;G/C missense_variant False IGSF3@p.R552P 1 0.444444444 ENSG00000143061 chr1:116600315-116600315;C/G missense_variant False IGSF3@p.S77C 1 0.43902439 ENSG00000143061 chr1:116616271-116616271;G/C missense_variant False IGSF5@p.A224T 1 0.165517241 ENSG00000183067 chr21:39771167-39771167;G/A missense_variant False IGSF5@p.T330I 1 0.4 ENSG00000183067 chr21:39792040-39792040;C/T missense_variant False IGSF5@p.V161I 1 0.441860465 ENSG00000183067 chr21:39770978-39770978;G/A missense_variant False IGSF8@p.E208K 1 0.131147541 ENSG00000162729 chr1:160093992-160093992;C/T missense_variant False IGSF8@p.S205Y 1 0.396551724 ENSG00000162729 chr1:160094000-160094000;G/T missense_variant False IGSF9@p.E678K 1 0.04950495 ENSG00000085552 chr1:159930221-159930221;C/T missense_variant False IGSF9@p.L98V 1 0.853658537 ENSG00000085552 chr1:159937794-159937794;G/C missense_variant False IGSF9@p.P310A 1 0.428571429 ENSG00000085552 chr1:159934458-159934458;G/C missense_variant False IGSF9@p.R198Q 1 0.316455696 ENSG00000085552 chr1:159936479-159936479;C/T missense_variant False IGSF9@p.S441C 1 0.075 ENSG00000085552 chr1:159931852-159931852;G/C missense_variant False IGSF9B@p.D554Y 1 0.625 ENSG00000080854 chr11:133927063-133927063;C/A missense_variant False IGSF9B@p.E840K 1 0.206185567 ENSG00000080854 chr11:133921207-133921207;C/T missense_variant False IGSF9B@p.F63I 1 0.361111111 ENSG00000080854 chr11:133946136-133946136;A/T missense_variant False IGSF9B@p.I700F 1 0.219047619 ENSG00000080854 chr11:133924841-133924841;T/A missense_variant False IGSF9B@p.L1204V 1 0.209150327 ENSG00000080854 chr11:133920115-133920115;G/C missense_variant False IKBKG@p.S43L 1 0.509090909 ENSG00000269335 chrX:154552130-154552130;C/T missense_variant False IKZF1@p.E304Q 1 0.213114754 ENSG00000185811 chr7:50399977-50399977;G/C missense_variant False IL17RA@p.D538N 1 0.538461538 ENSG00000177663 chr22:17108831-17108831;G/A missense_variant False IL12RB2@p.S749T 1 0.134615385 ENSG00000081985 chr1:67395746-67395746;G/C missense_variant False IL16@p.C146Afs*9 1 0.285714286 ENSG00000172349 chr15:81265672-81265672;T/- frameshift_variant False IL16@p.A120E 1 0.168831169 ENSG00000172349 chr15:81259818-81259818;C/A missense_variant False IL15RA@p.H266Tfs*11 1 0.243243243 ENSG00000134470 chr10:5953103-5953103;G/- frameshift_variant False IL15@p.R9K 1 0.171428571 ENSG00000164136 chr4:141720482-141720482;G/A missense_variant False IL13RA1@p.V291M 1 0.421052632 ENSG00000131724 chrX:118766572-118766572;G/A missense_variant False IL13RA1@p.K325I 1 0.68 ENSG00000131724 chrX:118766941-118766941;A/T missense_variant False IL12RB2@p.E606K 1 0.158730159 ENSG00000081985 chr1:67380084-67380084;G/A missense_variant False IL11RA@p.S6L 1 0.302325581 ENSG00000137070 chr9:34655234-34655234;C/T missense_variant False IL12RB2@p.E137K 1 0.117647059 ENSG00000081985 chr1:67326779-67326779;G/A missense_variant False IL12RB2@p.A816T 1 0.162068966 ENSG00000081985 chr1:67395946-67395946;G/A missense_variant False IL12RB1@p.S538T 1 0.114285714 ENSG00000096996 chr19:18063881-18063881;C/G missense_variant False IL12RB1@p.G513S 1 0.166666667 ENSG00000096996 chr19:18063957-18063957;C/T missense_variant False IL12B@p.P53H 1 0.421052632 ENSG00000113302 chr5:159323260-159323260;G/T missense_variant False IL12B@p.A198V 1 0.25 ENSG00000113302 chr5:159320410-159320410;G/A missense_variant False IL16@p.E149K 1 0.4 ENSG00000172349 chr15:81265682-81265682;G/A missense_variant False IL16@p.E149V 1 0.36 ENSG00000172349 chr15:81265683-81265683;A/T missense_variant False IL16@p.E901K 1 0.224489796 ENSG00000172349 chr15:81300027-81300027;G/A missense_variant False IL16@p.G363V 1 0.233333333 ENSG00000172349 chr15:81282645-81282645;G/T missense_variant False IL16@p.I343M 1 0.142857143 ENSG00000172349 chr15:81279722-81279722;C/G missense_variant False IL16@p.L1075R 1 0.506849315 ENSG00000172349 chr15:81301418-81301418;T/G missense_variant False IL16@p.P924L 1 0.244186047 ENSG00000172349 chr15:81300097-81300097;C/T missense_variant False IL16@p.Q359H 1 0.3125 ENSG00000172349 chr15:81279770-81279770;G/C missense_variant False IL16@p.R501C 1 0.484848485 ENSG00000172349 chr15:81292636-81292636;C/T missense_variant False IL16@p.S1048L 1 0.564516129 ENSG00000172349 chr15:81300469-81300469;C/T missense_variant False IL17A@p.E125K 1 0.240506329 ENSG00000112115 chr6:52189197-52189197;G/A missense_variant False IL17A@p.G32E 1 0.397590361 ENSG00000112115 chr6:52187670-52187670;G/A missense_variant False IL17B@p.R111H 1 0.2 ENSG00000127743 chr5:149374580-149374580;C/T missense_variant False IL17B@p.T131I 1 0.527777778 ENSG00000127743 chr5:149374520-149374520;G/A missense_variant False IL17C@p.D136A 1 0.55 ENSG00000124391 chr16:88639885-88639885;A/C missense_variant False IL17C@p.R159C 1 0.298245614 ENSG00000124391 chr16:88639953-88639953;C/T missense_variant False IL17F@p.S95L 1 0.166666667 ENSG00000112116 chr6:52237139-52237139;G/A missense_variant False IL12A@p.D111N 1 0.268041237 ENSG00000168811 chr3:159993078-159993078;G/A missense_variant False IL11RA@p.G286R 1 0.454545455 ENSG00000137070 chr9:34659804-34659804;G/A missense_variant False IKZF1@p.E491Q 1 0.152542373 ENSG00000185811 chr7:50400538-50400538;G/C missense_variant False IKZF2@p.F480S 1 0.145833333 ENSG00000030419 chr2:213007502-213007502;A/G missense_variant False IKZF2@p.S163Y 1 0.431372549 ENSG00000030419 chr2:213049799-213049799;G/T missense_variant False IKZF2@p.R520Q 1 0.663265306 ENSG00000030419 chr2:213007382-213007382;C/T missense_variant False IKZF2@p.R203Qfs*32 1 0.433962264 ENSG00000030419 chr2:213022097-213022097;C/- frameshift_variant False IKZF2@p.R203Q 1 0.120689655 ENSG00000030419 chr2:213022097-213022097;C/T missense_variant False IKZF2@p.K429N 1 0.153508772 ENSG00000030419 chr2:213007654-213007654;C/G missense_variant False IKZF2@p.H186R 1 0.107142857 ENSG00000030419 chr2:213049730-213049730;T/C missense_variant False IKZF2@p.F172L 1 0.364864865 ENSG00000030419 chr2:213049771-213049771;G/T missense_variant False IL10RB@p.Q168E 1 0.112676056 ENSG00000243646 chr21:33283097-33283097;C/G missense_variant False IKZF2@p.E98Q 1 0.479166667 ENSG00000030419 chr2:213056947-213056947;C/G missense_variant False IKZF2@p.E474Q 1 0.131944444 ENSG00000030419 chr2:213007521-213007521;C/G missense_variant False IKZF2@p.E411Q 1 0.332179931 ENSG00000030419 chr2:213007710-213007710;C/G missense_variant False IKZF2@p.D497N 1 0.140350877 ENSG00000030419 chr2:213007452-213007452;C/T missense_variant False IKZF1@p.R162Q 1 0.482758621 ENSG00000185811 chr7:50382603-50382603;G/A missense_variant False IKZF1@p.L236M 1 0.526315789 ENSG00000185811 chr7:50387461-50387461;C/A missense_variant False IKZF2@p.V441F 1 0.121621622 ENSG00000030419 chr2:213007620-213007620;C/A missense_variant False IKZF3@p.D390N 1 0.291666667 ENSG00000161405 chr17:39766152-39766152;C/T missense_variant False IKZF3@p.E51Lfs*4 1 0.265306122 ENSG00000161405 chr17:39829399-39829400;-/AG frameshift_variant False IKZF3@p.H136Y 1 0.495049505 ENSG00000161405 chr17:39792691-39792691;G/A missense_variant False IKZF3@p.H498D 1 0.18907563 ENSG00000161405 chr17:39765828-39765828;G/C missense_variant False IKZF3@p.P76L 1 0.379746835 ENSG00000161405 chr17:39792870-39792870;G/A missense_variant False IKZF4@p.E366K 1 0.380165289 ENSG00000123411 chr12:56034669-56034669;G/A missense_variant False IKZF5@p.D50N 1 0.104347826 ENSG00000095574 chr10:122996162-122996162;C/T missense_variant False IL10@p.R50K 1 0.574074074 ENSG00000136634 chr1:206772287-206772287;C/T missense_variant False IL10RA@p.E352K 1 0.46875 ENSG00000110324 chr11:117998958-117998958;G/A missense_variant False IL10RA@p.E35Q 1 0.203947368 ENSG00000110324 chr11:117988417-117988417;G/C missense_variant False IL10RA@p.R262C 1 0.310344828 ENSG00000110324 chr11:117995684-117995684;C/T missense_variant False IL10RA@p.S560R 1 0.184466019 ENSG00000110324 chr11:117999584-117999584;C/A missense_variant False IL10RB@p.E121Q 1 0.208092486 ENSG00000243646 chr21:33279781-33279781;G/C missense_variant False IL10RB@p.E92K 1 0.311827957 ENSG00000243646 chr21:33276696-33276696;G/A missense_variant False IL10RB@p.F34L 1 0.15625 ENSG00000243646 chr21:33268446-33268446;C/G missense_variant False IL10RB@p.L195F 1 0.510204082 ENSG00000243646 chr21:33283178-33283178;C/T missense_variant False IL6R@p.E326K 1 0.384615385 ENSG00000160712 chr1:154448151-154448151;G/A missense_variant False IL6R@p.F248L 1 0.151515152 ENSG00000160712 chr1:154435093-154435093;C/G missense_variant False INTS2@p.R244K 1 0.261146497 ENSG00000108506 chr17:61912013-61912013;C/T missense_variant False INPP5A@p.P152S 1 0.255319149 ENSG00000068383 chr10:132697899-132697899;C/T missense_variant False INPP5D@p.E850D 1 0.242424242 ENSG00000168918 chr2:233193915-233193915;G/C missense_variant False INPP5D@p.D80N 1 0.147058824 ENSG00000168918 chr2:233122146-233122146;G/A missense_variant False INPP5D@p.D107Tfs*11 1 0.166666667 ENSG00000168918 chr2:233122226-233122226;G/- frameshift_variant False INPP5B@p.S85F 1 0.627118644 ENSG00000204084 chr1:37943666-37943666;G/A missense_variant False INPP5B@p.L850V 1 0.1875 ENSG00000204084 chr1:37866537-37866537;G/C missense_variant False INPP5A@p.R350H 1 0.388888889 ENSG00000068383 chr10:132777742-132777742;G/A missense_variant False INPP5A@p.I218V 1 0.075949367 ENSG00000068383 chr10:132726825-132726825;A/G missense_variant False INPP5F@p.D389Y 1 0.244897959 ENSG00000198825 chr10:119804221-119804221;G/T missense_variant False INPP5A@p.E308Q 1 0.237704918 ENSG00000068383 chr10:132765791-132765791;G/C missense_variant False INPP4B@p.W248S 1 0.301886792 ENSG00000109452 chr4:142237957-142237957;C/G missense_variant False INPP4B@p.S403L 1 0.173913043 ENSG00000109452 chr4:142173783-142173783;G/A missense_variant False INPP4B@p.R387G 1 0.454545455 ENSG00000109452 chr4:142193109-142193109;T/C missense_variant False INPP4B@p.I104M 1 0.189873418 ENSG00000109452 chr4:142402998-142402998;G/C missense_variant False INPP4B@p.E916Q 1 0.681818182 ENSG00000109452 chr4:142028811-142028811;C/G missense_variant False INPP5E@p.F376L 1 0.5 ENSG00000148384 chr9:136433186-136433186;G/C missense_variant False INPP5F@p.H315R 1 0.424242424 ENSG00000198825 chr10:119797536-119797536;A/G missense_variant False IL6ST@p.D215Y 1 0.407894737 ENSG00000134352 chr5:55964161-55964161;C/A missense_variant False INPPL1@p.D812H 1 0.356521739 ENSG00000165458 chr11:72235134-72235134;G/C missense_variant False INPPL1@p.L1228I 1 0.5 ENSG00000165458 chr11:72238171-72238171;C/A missense_variant False INPPL1@p.G1191W 1 0.52173913 ENSG00000165458 chr11:72238060-72238060;G/T missense_variant False INPPL1@p.E933Q 1 0.479166667 ENSG00000165458 chr11:72235904-72235904;G/C missense_variant False INPPL1@p.E877Q 1 0.448275862 ENSG00000165458 chr11:72235421-72235421;G/C missense_variant False INPPL1@p.E339Q 1 0.416666667 ENSG00000165458 chr11:72230196-72230196;G/C missense_variant False INPPL1@p.E1084K 1 0.109090909 ENSG00000165458 chr11:72237494-72237494;G/A missense_variant False INPP5K@p.S351L 1 0.186666667 ENSG00000132376 chr17:1496715-1496715;G/A missense_variant False INPP5F@p.L908V 1 0.162790698 ENSG00000198825 chr10:119827103-119827103;C/G missense_variant False INPP5J@p.S453R 1 0.316326531 ENSG00000185133 chr22:31126463-31126463;C/A missense_variant False INPP5F@p.S513I 1 0.326315789 ENSG00000198825 chr10:119808029-119808029;G/T missense_variant False INPP5F@p.S187F 1 0.125506073 ENSG00000198825 chr10:119791984-119791984;C/T missense_variant False INPP5F@p.S1060L 1 0.490740741 ENSG00000198825 chr10:119827560-119827560;C/T missense_variant False INPP5F@p.R636G 1 0.350993377 ENSG00000198825 chr10:119820865-119820865;A/G missense_variant False INPP5F@p.M504V 1 0.525252525 ENSG00000198825 chr10:119808001-119808001;A/G missense_variant False INPP4B@p.E405K 1 0.327433628 ENSG00000109452 chr4:142173778-142173778;C/T missense_variant False INPP4B@p.D847Tfs*7 1 0.278481013 ENSG00000109452 chr4:142082138-142082138;G/- frameshift_variant False INPP4A@p.S754C 1 0.4 ENSG00000040933 chr2:98565733-98565733;C/G missense_variant False INO80@p.E729K 1 0.127118644 ENSG00000128908 chr15:41055250-41055250;C/T missense_variant False INO80@p.Q1215H 1 0.289017341 ENSG00000128908 chr15:40987900-40987900;C/G missense_variant False INO80@p.N946S 1 0.068965517 ENSG00000128908 chr15:41044974-41044974;T/C missense_variant False INO80@p.K658N 1 0.28125 ENSG00000128908 chr15:41058650-41058650;C/G missense_variant False INO80@p.G431E 1 0.4375 ENSG00000128908 chr15:41074405-41074405;C/T missense_variant False INO80@p.E936K 1 0.225352113 ENSG00000128908 chr15:41045005-41045005;C/T missense_variant False INO80@p.E900Q 1 0.566666667 ENSG00000128908 chr15:41047445-41047445;C/G missense_variant False INO80@p.E412Kfs*4 1 0.233766234 ENSG00000128908 chr15:41074463-41074463;C/- frameshift_variant False INPP4A@p.P75S 1 0.078431373 ENSG00000040933 chr2:98533448-98533448;C/T missense_variant False INO80@p.E238K 1 0.055555556 ENSG00000128908 chr15:41085530-41085530;C/T missense_variant False INO80@p.E1306Q 1 0.453333333 ENSG00000128908 chr15:40985343-40985343;C/G missense_variant False INO80@p.E1263K 1 0.387096774 ENSG00000128908 chr15:40987136-40987136;C/T missense_variant False INO80@p.D716V 1 0.166666667 ENSG00000128908 chr15:41055288-41055288;T/A missense_variant False INO80@p.D543N 1 0.259615385 ENSG00000128908 chr15:41070526-41070526;C/T missense_variant False INO80@p.D1312H 1 0.233333333 ENSG00000128908 chr15:40984340-40984340;C/G missense_variant False INO80@p.R1450Q 1 0.152941176 ENSG00000128908 chr15:40982966-40982966;C/T missense_variant False INO80@p.S1508L 1 0.161764706 ENSG00000128908 chr15:40980371-40980371;G/A missense_variant False INO80@p.S240F 1 0.216666667 ENSG00000128908 chr15:41085523-41085523;G/A missense_variant False INO80@p.S79L 1 0.277227723 ENSG00000128908 chr15:41095836-41095836;G/A missense_variant False INO80B@p.S11F 1 0.351648352 ENSG00000115274 chr2:74455148-74455148;C/T missense_variant False INO80D@p.C493G 1 0.363636364 ENSG00000114933 chr2:206017745-206017745;A/C missense_variant False INO80D@p.D281N 1 0.285714286 ENSG00000114933 chr2:206056321-206056321;C/T missense_variant False INO80D@p.E639K 1 0.322580645 ENSG00000114933 chr2:206007287-206007287;C/T missense_variant False INO80D@p.E961K 1 0.44 ENSG00000114933 chr2:206004571-206004571;C/T missense_variant False INO80D@p.K641N 1 0.142857143 ENSG00000114933 chr2:206005529-206005529;C/G missense_variant False INO80D@p.P496L 1 0.260869565 ENSG00000114933 chr2:206017735-206017735;G/A missense_variant False INO80D@p.Q181H 1 0.555555556 ENSG00000114933 chr2:206056619-206056619;C/G missense_variant False INO80E@p.D10H 1 0.352941176 ENSG00000169592 chr16:29996338-29996338;G/C missense_variant False INO80E@p.E65K 1 0.087378641 ENSG00000169592 chr16:29996848-29996848;G/A missense_variant False INO80E@p.P119S 1 0.333333333 ENSG00000169592 chr16:30000999-30000999;C/T missense_variant False INPP1@p.E100Q 1 0.316546763 ENSG00000151689 chr2:190366727-190366727;G/C missense_variant False INPP1@p.G78E 1 0.238938053 ENSG00000151689 chr2:190362655-190362655;G/A missense_variant False INPPL1@p.S1143L 1 0.535714286 ENSG00000165458 chr11:72237672-72237672;C/T missense_variant False INSC@p.E549K 1 0.082352941 ENSG00000188487 chr11:15245945-15245945;G/A missense_variant False INSC@p.Q202P 1 0.68 ENSG00000188487 chr11:15178332-15178332;A/C missense_variant False INTS12@p.E110K 1 0.054455446 ENSG00000138785 chr4:105693468-105693468;C/T missense_variant False INTS13@p.S276C 1 0.514563107 ENSG00000064102 chr12:26922678-26922678;G/C missense_variant False INTS13@p.R238C 1 0.453608247 ENSG00000064102 chr12:26924447-26924447;G/A missense_variant False INTS13@p.G574E 1 0.218241042 ENSG00000064102 chr12:26913541-26913541;C/T missense_variant False INTS13@p.D432H 1 0.207317073 ENSG00000064102 chr12:26914533-26914533;C/G missense_variant False INTS13@p.D412N 1 0.53125 ENSG00000064102 chr12:26916016-26916016;C/T missense_variant False INTS13@p.D31H 1 0.188679245 ENSG00000064102 chr12:26936713-26936713;C/G missense_variant False INTS12@p.D113H 1 0.225609756 ENSG00000138785 chr4:105693459-105693459;C/G missense_variant False INSRR@p.V623M 1 0.237113402 ENSG00000027644 chr1:156846063-156846063;C/T missense_variant False INTS11@p.I305M 1 0.294520548 ENSG00000127054 chr1:1313774-1313774;G/C missense_variant False INSYN2A@p.R160W 1 0.392156863 ENSG00000188916 chr10:127175918-127175918;G/A missense_variant False INSYN2A@p.M28I 1 0.234234234 ENSG00000188916 chr10:127176312-127176312;C/T missense_variant False INSYN2A@p.L120V 1 0.338028169 ENSG00000188916 chr10:127176038-127176038;G/C missense_variant False INSYN2A@p.E320K 1 0.32967033 ENSG00000188916 chr10:127175438-127175438;C/T missense_variant False INSYN2A@p.E149D 1 0.362318841 ENSG00000188916 chr10:127175949-127175949;C/G missense_variant False INTS13@p.T497Nfs*7 1 0.129411765 ENSG00000064102 chr12:26914058-26914059;-/T frameshift_variant False INTS14@p.E495Q 1 0.217877095 ENSG00000138614 chr15:65579482-65579482;C/G missense_variant False INTS14@p.G94D 1 0.38 ENSG00000138614 chr15:65605178-65605178;C/T missense_variant False INTS1@p.E1926K 1 0.138888889 ENSG00000164880 chr7:1474221-1474221;C/T missense_variant False INTS1@p.H848D 1 0.590909091 ENSG00000164880 chr7:1487424-1487424;G/C missense_variant False INTS1@p.K1598Efs*177 1 0.38 ENSG00000164880 chr7:1477775-1477776;-/C frameshift_variant False INTS1@p.L1048V 1 0.126126126 ENSG00000164880 chr7:1485304-1485304;G/C missense_variant False INTS1@p.P1575A 1 0.114942529 ENSG00000164880 chr7:1477844-1477844;G/C missense_variant False INTS1@p.Q1687K 1 0.928571429 ENSG00000164880 chr7:1476798-1476798;G/T missense_variant False INTS1@p.R788Q 1 0.19047619 ENSG00000164880 chr7:1487913-1487913;C/T missense_variant False INTS1@p.S776F 1 0.521472393 ENSG00000164880 chr7:1487949-1487949;G/A missense_variant False INTS1@p.Y775C 1 0.414201183 ENSG00000164880 chr7:1487952-1487952;T/C missense_variant False INTS2@p.E1052Q 1 0.5 ENSG00000108506 chr17:61869281-61869281;C/G missense_variant False INTS2@p.E732K 1 0.367346939 ENSG00000108506 chr17:61881091-61881091;C/T missense_variant False INTS2@p.E925K 1 0.311111111 ENSG00000108506 chr17:61872294-61872294;C/T missense_variant False INTS2@p.H273Y 1 0.5 ENSG00000108506 chr17:61911681-61911681;G/A missense_variant False INTS2@p.L229M 1 0.429487179 ENSG00000108506 chr17:61912059-61912059;G/T missense_variant False INSYN1@p.S82C 1 0.174904943 ENSG00000205363 chr15:73740554-73740554;G/C missense_variant False INSRR@p.R950K 1 0.126984127 ENSG00000027644 chr1:156843474-156843474;C/T missense_variant False INSC@p.Q488H 1 0.079365079 ENSG00000188487 chr11:15239004-15239004;G/T missense_variant False INSL4@p.A2V 1 0.486842105 ENSG00000120211 chr9:5231528-5231528;C/T missense_variant False INSM1@p.L310V 1 0.5 ENSG00000173404 chr20:20369195-20369195;C/G missense_variant False INSM1@p.H487Y 1 0.322580645 ENSG00000173404 chr20:20369726-20369726;C/T missense_variant False INSL6@p.E81K 1 0.328244275 ENSG00000120210 chr9:5185362-5185362;C/T missense_variant False INSL5@p.L8V 1 0.111111111 ENSG00000172410 chr1:66801200-66801200;G/C missense_variant False INSL4@p.R63C 1 0.766666667 ENSG00000120211 chr9:5231710-5231710;C/T missense_variant False INSL4@p.R117S 1 0.864864865 ENSG00000120211 chr9:5233806-5233806;C/A missense_variant False INSL3@p.L94V 1 0.214285714 ENSG00000248099 chr19:17816970-17816970;G/C missense_variant False INSRR@p.P190S 1 0.105263158 ENSG00000027644 chr1:156853821-156853821;G/A missense_variant False INSIG2@p.E5Q 1 0.292682927 ENSG00000125629 chr2:118096569-118096569;G/C missense_variant False INSIG1@p.L220V 1 0.149253731 ENSG00000186480 chr7:155302371-155302371;C/G missense_variant False INSIG1@p.I224T 1 0.188405797 ENSG00000186480 chr7:155302384-155302384;T/C missense_variant False INSIG1@p.F252I 1 0.426829268 ENSG00000186480 chr7:155302796-155302796;T/A missense_variant False INSC@p.V377I 1 0.457142857 ENSG00000188487 chr11:15221645-15221645;G/A missense_variant False INSC@p.S26Y 1 0.340909091 ENSG00000188487 chr11:15112546-15112546;C/A missense_variant False INSM2@p.A521V 1 0.085106383 ENSG00000168348 chr14:35535814-35535814;C/T missense_variant False INSM2@p.E290Q 1 0.423076923 ENSG00000168348 chr14:35535120-35535120;G/C missense_variant False INSM2@p.L28V 1 0.333333333 ENSG00000168348 chr14:35534334-35534334;C/G missense_variant False INSM2@p.S517C 1 0.324324324 ENSG00000168348 chr14:35535802-35535802;C/G missense_variant False INSR@p.C551Y 1 0.171428571 ENSG00000171105 chr19:7166363-7166363;C/T missense_variant False INSR@p.G373E 1 0.128571429 ENSG00000171105 chr19:7174588-7174588;C/T missense_variant False INSR@p.L907V 1 0.111111111 ENSG00000171105 chr19:7132281-7132281;G/C missense_variant False INSR@p.M137I 1 0.245901639 ENSG00000171105 chr19:7267586-7267586;C/T missense_variant False INSR@p.Q718E 1 0.162162162 ENSG00000171105 chr19:7152805-7152805;G/C missense_variant False INSR@p.S244C 1 0.09375 ENSG00000171105 chr19:7184559-7184559;G/C missense_variant False INSR@p.S400C 1 0.198019802 ENSG00000171105 chr19:7172359-7172359;G/C missense_variant False INSR@p.S682L 1 0.301369863 ENSG00000171105 chr19:7152912-7152912;G/A missense_variant False INSRR@p.A496Qfs*57 1 0.391304348 ENSG00000027644 chr1:156849006-156849006;C/- frameshift_variant False INSRR@p.A963T 1 0.68627451 ENSG00000027644 chr1:156843436-156843436;C/T missense_variant False INSRR@p.D650N 1 0.379310345 ENSG00000027644 chr1:156845982-156845982;C/T missense_variant False INSRR@p.E28K 1 0.238636364 ENSG00000027644 chr1:156858540-156858540;C/T missense_variant False INSRR@p.L184P 1 0.092307692 ENSG00000027644 chr1:156853838-156853838;A/G missense_variant False INO80@p.D1023Y 1 0.381818182 ENSG00000128908 chr15:41021107-41021107;C/A missense_variant False INKA2@p.S287L 1 0.097457627 ENSG00000197852 chr1:111727002-111727002;G/A missense_variant False INKA2@p.R13C 1 0.303030303 ENSG00000197852 chr1:111739206-111739206;G/A missense_variant False IMP3@p.V33M 1 0.27027027 ENSG00000177971 chr15:75640072-75640072;C/T missense_variant False IMPA2@p.G105S 1 0.057377049 ENSG00000141401 chr18:12009965-12009965;G/A missense_variant False IMPA2@p.E173K 1 0.296875 ENSG00000141401 chr18:12028069-12028069;G/A missense_variant False IMPA1@p.E162Q 1 0.206896552 ENSG00000133731 chr8:81671021-81671021;C/G missense_variant False IMP4@p.S228L 1 0.282608696 ENSG00000136718 chr2:130346106-130346106;C/T missense_variant False IMP4@p.G63A 1 0.215686275 ENSG00000136718 chr2:130344704-130344704;G/C missense_variant False IMP4@p.A127S 1 0.446153846 ENSG00000136718 chr2:130345639-130345639;G/T missense_variant False IMMT@p.R285K 1 0.576923077 ENSG00000132305 chr2:86162018-86162018;C/T missense_variant False IMMP1L@p.G130V 1 0.398058252 ENSG00000148950 chr11:31433503-31433503;C/A missense_variant False IMMT@p.R275H 1 0.5 ENSG00000132305 chr2:86162048-86162048;C/T missense_variant False IMMT@p.Q672E 1 0.449612403 ENSG00000132305 chr2:86144531-86144531;G/C missense_variant False IMMT@p.K313N 1 0.296610169 ENSG00000132305 chr2:86159629-86159629;C/G missense_variant False IMMT@p.E510K 1 0.41509434 ENSG00000132305 chr2:86147707-86147707;C/T missense_variant False IMMT@p.D649Y 1 0.183098592 ENSG00000132305 chr2:86144600-86144600;C/A missense_variant False IMMT@p.D649H 1 0.340206186 ENSG00000132305 chr2:86144600-86144600;C/G missense_variant False IMPA2@p.T279M 1 0.1 ENSG00000141401 chr18:12030427-12030427;C/T missense_variant False IMPACT@p.D157H 1 0.157407407 ENSG00000154059 chr18:24440597-24440597;G/C missense_variant False IMPACT@p.G274V 1 0.1875 ENSG00000154059 chr18:24449880-24449880;G/T missense_variant False IMPACT@p.K210N 1 0.379310345 ENSG00000154059 chr18:24445428-24445428;G/C missense_variant False IMPACT@p.P63A 1 0.23880597 ENSG00000154059 chr18:24428890-24428890;C/G missense_variant False IMPDH2@p.C331S 1 0.5 ENSG00000178035 chr3:49026338-49026338;C/G missense_variant False IMPDH2@p.E491Q 1 0.31884058 ENSG00000178035 chr3:49024547-49024547;C/G missense_variant False IMPDH2@p.G151R 1 0.296296296 ENSG00000178035 chr3:49027790-49027790;C/G missense_variant False IMPDH2@p.I406M 1 0.470588235 ENSG00000178035 chr3:49024973-49024973;G/C missense_variant False IMPDH2@p.L201V 1 0.068627451 ENSG00000178035 chr3:49026978-49026978;G/C missense_variant False IMPDH2@p.M286I 1 0.6 ENSG00000178035 chr3:49026571-49026571;C/T missense_variant False IMPDH2@p.S388C 1 0.15 ENSG00000178035 chr3:49025028-49025028;G/C missense_variant False IMPG1@p.D390Y 1 0.210526316 ENSG00000112706 chr6:76003918-76003918;C/A missense_variant False IMPG1@p.E237Q 1 0.196721311 ENSG00000112706 chr6:76018816-76018816;C/G missense_variant False IMPG1@p.G619E 1 0.323529412 ENSG00000112706 chr6:75947502-75947502;C/T missense_variant False IMPG1@p.H284N 1 0.323529412 ENSG00000112706 chr6:76011182-76011182;G/T missense_variant False IMPG1@p.I185F 1 0.2375 ENSG00000112706 chr6:76025203-76025203;T/A missense_variant False IMMP2L@p.E121K 1 0.076190476 ENSG00000184903 chr7:110886640-110886640;C/T missense_variant False ILVBL@p.I371M 1 0.114035088 ENSG00000105135 chr19:15117954-15117954;G/C missense_variant False IMPG1@p.R161T 1 0.276923077 ENSG00000112706 chr6:76034330-76034330;C/G missense_variant False IL7@p.D101H 1 0.301886792 ENSG00000104432 chr8:78738563-78738563;C/G missense_variant False IL9R@p.C37Y 1 0.272727273 ENSG00000292373 chrX:156002987-156002987;G/A missense_variant False IL9R@p.A276P 1 0.45 ENSG00000292373 chrX:156006127-156006127;G/C missense_variant False IL7R@p.S335F 1 0.083333333 ENSG00000168685 chr5:35876110-35876110;C/T missense_variant False IL7R@p.M238I 1 0.212765957 ENSG00000168685 chr5:35874456-35874456;G/A missense_variant False IL7R@p.E95D 1 0.104651163 ENSG00000168685 chr5:35867369-35867369;G/C missense_variant False IL7R@p.D312E 1 0.181818182 ENSG00000168685 chr5:35876042-35876042;T/A missense_variant False IL6ST@p.Y344H 1 0.081632653 ENSG00000134352 chr5:55957235-55957235;A/G missense_variant False ILVBL@p.A393S 1 0.170731707 ENSG00000105135 chr19:15117890-15117890;C/A missense_variant False IL6ST@p.S667L 1 0.224489796 ENSG00000134352 chr5:55942689-55942689;G/A missense_variant False IL6ST@p.S506N 1 0.111111111 ENSG00000134352 chr5:55952285-55952285;C/T missense_variant False IL6ST@p.S279F 1 0.071428571 ENSG00000134352 chr5:55960539-55960539;G/A missense_variant False IL6ST@p.G522A 1 0.35 ENSG00000134352 chr5:55952063-55952063;C/G missense_variant False IL6ST@p.E695K 1 0.212121212 ENSG00000134352 chr5:55941756-55941756;C/T missense_variant False IL6ST@p.E488K 1 0.442622951 ENSG00000134352 chr5:55952340-55952340;C/T missense_variant False IL9R@p.S151C 1 0.140350877 ENSG00000292373 chrX:156004438-156004438;C/G missense_variant False IL9R@p.T284S 1 0.357142857 ENSG00000292373 chrX:156006152-156006152;C/G missense_variant False ILDR1@p.Q125H 1 0.6 ENSG00000145103 chr3:122005248-122005248;C/G missense_variant False ILDR1@p.S50F 1 0.138888889 ENSG00000145103 chr3:122007071-122007071;G/A missense_variant False ILDR2@p.Q131P 1 0.152542373 ENSG00000143195 chr1:166956840-166956840;T/G missense_variant False ILDR2@p.V125D 1 0.455555556 ENSG00000143195 chr1:166957774-166957774;A/T missense_variant False ILDR2@p.Y373C 1 0.542666667 ENSG00000143195 chr1:166922686-166922686;T/C missense_variant False ILF2@p.E153K 1 0.046242775 ENSG00000143621 chr1:153665666-153665666;C/T missense_variant False ILF2@p.E384K 1 0.127659574 ENSG00000143621 chr1:153662419-153662419;C/T missense_variant False ILF2@p.Q379E 1 0.297297297 ENSG00000143621 chr1:153662434-153662434;G/C missense_variant False ILF3@p.E484K 1 0.222222222 ENSG00000129351 chr19:10682606-10682606;G/A missense_variant False ILF3@p.G697A 1 0.368421053 ENSG00000129351 chr19:10687376-10687376;G/C missense_variant False ILF3@p.R247Q 1 0.166666667 ENSG00000129351 chr19:10679185-10679185;G/A missense_variant False ILF3@p.S674N 1 0.244186047 ENSG00000129351 chr19:10683932-10683932;G/A missense_variant False ILF3@p.S787L 1 0.583333333 ENSG00000129351 chr19:10687646-10687646;C/T missense_variant False ILK@p.E399D 1 0.238095238 ENSG00000166333 chr11:6610266-6610266;G/C missense_variant False ILK@p.S47C 1 0.441176471 ENSG00000166333 chr11:6608096-6608096;C/G missense_variant False IMPG1@p.P196S 1 0.1 ENSG00000112706 chr6:76022196-76022196;G/A missense_variant False IMPG1@p.S312N 1 0.484375 ENSG00000112706 chr6:76005487-76005487;C/T missense_variant False INKA2@p.E183Q 1 0.564885496 ENSG00000197852 chr1:111727315-111727315;C/G missense_variant False ING5@p.D203N 1 0.336956522 ENSG00000168395 chr2:241723063-241723063;G/A missense_variant False INHBA@p.S356C 1 0.35915493 ENSG00000122641 chr7:41689865-41689865;T/A missense_variant False INHBA@p.E421K 1 0.355263158 ENSG00000122641 chr7:41689670-41689670;C/T missense_variant False INHA@p.R100T 1 0.294117647 ENSG00000123999 chr2:219574724-219574724;G/C missense_variant False INHA@p.Q325E 1 0.532608696 ENSG00000123999 chr2:219575398-219575398;C/G missense_variant False INHA@p.A144D 1 0.452380952 ENSG00000123999 chr2:219574856-219574856;C/A missense_variant False ING5@p.E210K 1 0.255555556 ENSG00000168395 chr2:241723219-241723219;G/A missense_variant False ING4@p.S123R 1 0.238095238 ENSG00000111653 chr12:6652958-6652958;G/T missense_variant False ING1@p.K330Rfs*37 1 0.323308271 ENSG00000153487 chr13:110719647-110719650;GAAG/AAA frameshift_variant False ING4@p.E15Q 1 0.075471698 ENSG00000111653 chr12:6656793-6656793;C/G missense_variant False ING3@p.S279L 1 0.320512821 ENSG00000071243 chr7:120969132-120969132;C/T missense_variant False ING3@p.N150Y 1 0.098360656 ENSG00000071243 chr7:120967540-120967540;A/T missense_variant False ING3@p.L322F 1 0.267605634 ENSG00000071243 chr7:120970745-120970745;A/T missense_variant False ING3@p.D29N 1 0.54676259 ENSG00000071243 chr7:120951220-120951220;G/A missense_variant False ING2@p.K80E 1 0.213675214 ENSG00000168556 chr4:183510347-183510347;A/G missense_variant False INHBA@p.S370L 1 0.082352941 ENSG00000122641 chr7:41689822-41689822;G/A missense_variant False INHBB@p.R244Q 1 0.125874126 ENSG00000163083 chr2:120349381-120349381;G/A missense_variant False INHBB@p.R288H 1 0.716981132 ENSG00000163083 chr2:120349513-120349513;G/A missense_variant False INHBB@p.R313P 1 0.411111111 ENSG00000163083 chr2:120349588-120349588;G/C missense_variant False INHBC@p.T320K 1 0.565217391 ENSG00000175189 chr12:57449922-57449922;C/A missense_variant False INHBE@p.A75V 1 0.12 ENSG00000139269 chr12:57455760-57455760;C/T missense_variant False INHBE@p.E269K 1 0.4 ENSG00000139269 chr12:57456600-57456600;G/A missense_variant False INHBE@p.G167S 1 0.206049149 ENSG00000139269 chr12:57456294-57456294;G/A missense_variant False INHBE@p.L157F 1 0.363636364 ENSG00000139269 chr12:57456264-57456264;C/T missense_variant False INHBE@p.P66T 1 0.214285714 ENSG00000139269 chr12:57455732-57455732;C/A missense_variant False INHBE@p.R78K 1 0.55 ENSG00000139269 chr12:57455769-57455769;G/A missense_variant False INIP@p.E25Q 1 0.380434783 ENSG00000148153 chr9:112694186-112694186;C/G missense_variant False INIP@p.Q86E 1 0.927536232 ENSG00000148153 chr9:112687597-112687597;G/C missense_variant False INKA1@p.A266E 1 0.241573034 ENSG00000185614 chr3:49804926-49804926;C/A missense_variant False INKA1@p.R272H 1 0.316062176 ENSG00000185614 chr3:49804944-49804944;G/A missense_variant False INKA1@p.S128L 1 0.238095238 ENSG00000185614 chr3:49804512-49804512;C/T missense_variant False INKA2@p.D9N 1 0.365384615 ENSG00000197852 chr1:111739218-111739218;C/T missense_variant False ING2@p.D75N 1 0.421965318 ENSG00000168556 chr4:183510332-183510332;G/A missense_variant False ING1@p.A341Rfs*26 1 0.177419355 ENSG00000153487 chr13:110719683-110719683;G/- frameshift_variant False IMPG1@p.Y52H 1 0.520661157 ENSG00000112706 chr6:76042040-76042040;A/G missense_variant False IMPG2@p.I1104V 1 0.135483871 ENSG00000081148 chr3:101231069-101231069;T/C missense_variant False IMPG2@p.S474C 1 0.142857143 ENSG00000081148 chr3:101245924-101245924;G/C missense_variant False IMPG2@p.S371C 1 0.164179104 ENSG00000081148 chr3:101257570-101257570;G/C missense_variant False IMPG2@p.R1048W 1 0.102564103 ENSG00000081148 chr3:101232872-101232872;G/A missense_variant False IMPG2@p.P541T 1 0.194174757 ENSG00000081148 chr3:101244710-101244710;G/T missense_variant False IMPG2@p.N859S 1 0.355704698 ENSG00000081148 chr3:101243755-101243755;T/C missense_variant False IMPG2@p.M138I 1 0.18 ENSG00000081148 chr3:101304233-101304233;C/T missense_variant False IMPG2@p.G130R 1 0.166666667 ENSG00000081148 chr3:101304259-101304259;C/G missense_variant False INF2@p.S263C 1 0.346153846 ENSG00000203485 chr14:104706121-104706121;C/G missense_variant False IMPG2@p.E95K 1 0.594594595 ENSG00000081148 chr3:101319635-101319635;C/T missense_variant False IMPG2@p.E513Rfs*8 1 0.277511962 ENSG00000081148 chr3:101245809-101245810;-/A frameshift_variant False IMPG2@p.E294Q 1 0.38 ENSG00000081148 chr3:101269522-101269522;C/G missense_variant False IMPG2@p.E174Q 1 0.375 ENSG00000081148 chr3:101291492-101291492;C/G missense_variant False IMPG2@p.E1207Q 1 0.181818182 ENSG00000081148 chr3:101229394-101229394;C/G missense_variant False IMPG2@p.D999N 1 0.309090909 ENSG00000081148 chr3:101242715-101242715;C/T missense_variant False IMPG2@p.S527C 1 0.25 ENSG00000081148 chr3:101244751-101244751;G/C missense_variant False INA@p.E303K 1 0.265822785 ENSG00000148798 chr10:103278118-103278118;G/A missense_variant False INAVA@p.E393D 1 0.4375 ENSG00000163362 chr1:200909362-200909362;G/C missense_variant False INAVA@p.E527K 1 0.35 ENSG00000163362 chr1:200911817-200911817;G/A missense_variant False INCA1@p.E169D 1 0.666666667 ENSG00000196388 chr17:4988833-4988833;C/G missense_variant False INCA1@p.E235K 1 0.487179487 ENSG00000196388 chr17:4988413-4988413;C/T missense_variant False INCA1@p.S212L 1 0.227272727 ENSG00000196388 chr17:4988481-4988481;G/A missense_variant False INCENP@p.E394Q 1 0.051282051 ENSG00000149503 chr11:62138894-62138894;G/C missense_variant False INCENP@p.E594K 1 0.20212766 ENSG00000149503 chr11:62145233-62145233;G/A missense_variant False INCENP@p.Q605E 1 0.297029703 ENSG00000149503 chr11:62145266-62145266;C/G missense_variant False INCENP@p.R176L 1 0.24137931 ENSG00000149503 chr11:62130054-62130054;G/T missense_variant False INCENP@p.T478I 1 0.608695652 ENSG00000149503 chr11:62140793-62140793;C/T missense_variant False INF2@p.A592D 1 0.479452055 ENSG00000203485 chr14:104708475-104708475;C/A missense_variant False INF2@p.E851K 1 0.171428571 ENSG00000203485 chr14:104712494-104712494;G/A missense_variant False INF2@p.N642S 1 0.125 ENSG00000203485 chr14:104708708-104708708;A/G missense_variant False INF2@p.R214C 1 0.192090395 ENSG00000203485 chr14:104703427-104703427;C/T missense_variant False INF2@p.S1237F 1 0.268041237 ENSG00000203485 chr14:104715299-104715299;C/T missense_variant False KMT2C@p.D4393G 1 0.260869565 ENSG00000055609 chr7:152148749-152148749;T/C missense_variant True KMT2C@p.D4410N 1 0.139534884 ENSG00000055609 chr7:152148699-152148699;C/T missense_variant True KMT2C@p.D597H 1 0.263157895 ENSG00000055609 chr7:152249900-152249900;C/G missense_variant True MAP1B@p.R1423T 1 0.486486486 ENSG00000131711 chr5:72197623-72197623;G/C missense_variant False MAP1LC3A@p.M3I 1 0.341176471 ENSG00000101460 chr20:34549986-34549986;G/A missense_variant False MAP1LC3A@p.L82M 1 0.312727273 ENSG00000101460 chr20:34559776-34559776;C/A missense_variant False MAP1LC3A@p.I98M 1 0.115384615 ENSG00000101460 chr20:34559826-34559826;C/G missense_variant False MAP1B@p.S1692C 1 0.648148148 ENSG00000131711 chr5:72198430-72198430;C/G missense_variant False MAP1B@p.S1127Y 1 0.413793103 ENSG00000131711 chr5:72196735-72196735;C/A missense_variant False MAP1B@p.R558H 1 0.491803279 ENSG00000131711 chr5:72195028-72195028;G/A missense_variant False MAP1B@p.R125H 1 0.462184874 ENSG00000131711 chr5:72186618-72186618;G/A missense_variant False MAP1LC3B2@p.G107A 1 0.175675676 ENSG00000258102 chr12:116576262-116576262;G/C missense_variant False MAP1B@p.Q2078H 1 0.228070175 ENSG00000131711 chr5:72199589-72199589;G/C missense_variant False MAP1B@p.P526H 1 0.322580645 ENSG00000131711 chr5:72194932-72194932;C/A missense_variant False MAP1B@p.P1139R 1 0.296296296 ENSG00000131711 chr5:72196771-72196771;C/G missense_variant False MAP1B@p.K1476N 1 0.231481481 ENSG00000131711 chr5:72197783-72197783;G/C missense_variant False MAP1B@p.G287R 1 0.142857143 ENSG00000131711 chr5:72194214-72194214;G/A missense_variant False MAP1B@p.G1997C 1 0.115702479 ENSG00000131711 chr5:72199344-72199344;G/T missense_variant False MAP1LC3A@p.R70C 1 0.257918552 ENSG00000101460 chr20:34559740-34559740;C/T missense_variant False MAP1LC3B@p.M60I 1 0.176470588 ENSG00000140941 chr16:87402258-87402258;G/A missense_variant False MAP3K20@p.G684V 1 0.403846154 ENSG00000091436 chr2:173266398-173266398;G/T missense_variant False MAP2@p.D509H 1 0.490566038 ENSG00000078018 chr2:209693695-209693695;G/C missense_variant False MAP2@p.I1210V 1 0.193548387 ENSG00000078018 chr2:209695798-209695798;A/G missense_variant False MAP2@p.E981K 1 0.076923077 ENSG00000078018 chr2:209695111-209695111;G/A missense_variant False MAP2@p.E669G 1 0.34375 ENSG00000078018 chr2:209694176-209694176;A/G missense_variant False MAP2@p.E109K 1 0.208333333 ENSG00000078018 chr2:209678634-209678634;G/A missense_variant False MAP2@p.E1087K 1 0.041237113 ENSG00000078018 chr2:209695429-209695429;G/A missense_variant False MAP2@p.D542Y 1 0.287128713 ENSG00000078018 chr2:209693794-209693794;G/T missense_variant False MAP2@p.D1259N 1 0.138888889 ENSG00000078018 chr2:209695945-209695945;G/A missense_variant False MAP1LC3C@p.E111K 1 0.166666667 ENSG00000197769 chr1:241996276-241996276;C/T missense_variant False MAP2@p.A1010S 1 0.484210526 ENSG00000078018 chr2:209695198-209695198;G/T missense_variant False MAP1S@p.R748C 1 0.227272727 ENSG00000130479 chr19:17727626-17727626;C/T missense_variant False MAP1S@p.G891S 1 0.25 ENSG00000130479 chr19:17728055-17728055;G/A missense_variant False MAP1S@p.G716R 1 0.523809524 ENSG00000130479 chr19:17727530-17727530;G/A missense_variant False MAP1S@p.E216K 1 0.388888889 ENSG00000130479 chr19:17726030-17726030;G/A missense_variant False MAP1S@p.D296N 1 0.176470588 ENSG00000130479 chr19:17726270-17726270;G/A missense_variant False MAP1B@p.E567K 1 0.636363636 ENSG00000131711 chr5:72195054-72195054;G/A missense_variant False MAP1B@p.E2168Q 1 0.104166667 ENSG00000131711 chr5:72199857-72199857;G/C missense_variant False MAP1B@p.E1494K 1 0.219298246 ENSG00000131711 chr5:72197835-72197835;G/A missense_variant False MAP11@p.V239E 1 0.106382979 None chr7:100157381-100157381;A/T missense_variant False MAP1A@p.E1207D 1 0.138613861 ENSG00000166963 chr15:43525094-43525094;G/C missense_variant False MAP1A@p.E1202D 1 0.210526316 ENSG00000166963 chr15:43525079-43525079;G/C missense_variant False MAP1A@p.D1961N 1 0.252252252 ENSG00000166963 chr15:43527354-43527354;G/A missense_variant False MAP1A@p.D1419Y 1 0.311111111 ENSG00000166963 chr15:43525728-43525728;G/T missense_variant False MAP1A@p.D1419H 1 0.4 ENSG00000166963 chr15:43525728-43525728;G/C missense_variant False MAP1A@p.D122N 1 0.239583333 ENSG00000166963 chr15:43521837-43521837;G/A missense_variant False MAP11@p.S157L 1 0.390625 None chr7:100157880-100157880;G/A missense_variant False MAP1B@p.E1129K 1 0.138461538 ENSG00000131711 chr5:72196740-72196740;G/A missense_variant False MAP11@p.P368A 1 0.22 None chr7:100156524-100156524;G/C missense_variant False MAP10@p.Y1045H 1 0.481481481 ENSG00000212916 chr1:232808156-232808156;T/C missense_variant False MAP10@p.S557I 1 0.239130435 ENSG00000212916 chr1:232806693-232806693;G/T missense_variant False MAP10@p.S236Y 1 0.2 ENSG00000212916 chr1:232805730-232805730;C/A missense_variant False MAP10@p.S146L 1 0.347826087 ENSG00000212916 chr1:232805460-232805460;C/T missense_variant False MAP10@p.P563S 1 0.272727273 ENSG00000212916 chr1:232806710-232806710;C/T missense_variant False MAP1A@p.E1486Q 1 0.12 ENSG00000166963 chr15:43525929-43525929;G/C missense_variant False MAP1A@p.E2535K 1 0.186507937 ENSG00000166963 chr15:43529076-43529076;G/A missense_variant False MAP1A@p.E712K 1 0.157894737 ENSG00000166963 chr15:43523607-43523607;G/A missense_variant False MAP1A@p.E949Q 1 0.135714286 ENSG00000166963 chr15:43524318-43524318;G/C missense_variant False MAP1A@p.F2033S 1 0.09375 ENSG00000166963 chr15:43527571-43527571;T/C missense_variant False MAP1A@p.G1031V 1 0.425742574 ENSG00000166963 chr15:43524565-43524565;G/T missense_variant False MAP1A@p.K485Q 1 0.186046512 ENSG00000166963 chr15:43522926-43522926;A/C missense_variant False MAP1A@p.P2177T 1 0.13559322 ENSG00000166963 chr15:43528002-43528002;C/A missense_variant False MAP1A@p.P2500Lfs*93 1 0.101265823 ENSG00000166963 chr15:43528968-43528968;C/- frameshift_variant False MAP1A@p.P2570L 1 0.258064516 ENSG00000166963 chr15:43529182-43529182;C/T missense_variant False MAP1A@p.Q1389H 1 0.259259259 ENSG00000166963 chr15:43525640-43525640;G/C missense_variant False MAP1A@p.S2172L 1 0.100840336 ENSG00000166963 chr15:43527988-43527988;C/T missense_variant False MAP1B@p.D1839N 1 0.930232558 ENSG00000131711 chr5:72198870-72198870;G/A missense_variant False MAP1B@p.D2079N 1 0.226086957 ENSG00000131711 chr5:72199590-72199590;G/A missense_variant False MAP1B@p.D540N 1 0.366666667 ENSG00000131711 chr5:72194973-72194973;G/A missense_variant False MAP1B@p.E1097K 1 0.347826087 ENSG00000131711 chr5:72196644-72196644;G/A missense_variant False MAP1B@p.E1103K 1 0.485714286 ENSG00000131711 chr5:72196662-72196662;G/A missense_variant False MAP2@p.I533S 1 0.405797101 ENSG00000078018 chr2:209693768-209693768;T/G missense_variant False MAP2@p.K330M 1 0.115942029 ENSG00000078018 chr2:209693159-209693159;A/T missense_variant False MAP2@p.L527V 1 0.956521739 ENSG00000078018 chr2:209693749-209693749;T/G missense_variant False MAP3K13@p.E323Q 1 0.215686275 ENSG00000073803 chr3:185447904-185447904;G/C missense_variant False MAP3K14@p.H265Y 1 0.1875 ENSG00000006062 chr17:45286790-45286790;G/A missense_variant False MAP3K14@p.D574N 1 0.136363636 ENSG00000006062 chr17:45271159-45271159;C/T missense_variant False MAP3K13@p.S850C 1 0.283870968 ENSG00000073803 chr3:185480279-185480279;C/G missense_variant False MAP3K13@p.K924N 1 0.098039216 ENSG00000073803 chr3:185480502-185480502;G/T missense_variant False MAP3K13@p.G444E 1 0.070707071 ENSG00000073803 chr3:185463602-185463602;G/A missense_variant False MAP3K13@p.E860Q 1 0.282352941 ENSG00000073803 chr3:185480308-185480308;G/C missense_variant False MAP3K13@p.E108Q 1 0.36 ENSG00000073803 chr3:185428903-185428903;G/C missense_variant False MAP3K12@p.P819A 1 0.228571429 ENSG00000139625 chr12:53481967-53481967;G/C missense_variant False MAP3K13@p.D865N 1 0.527272727 ENSG00000073803 chr3:185480323-185480323;G/A missense_variant False MAP3K13@p.D857H 1 0.349056604 ENSG00000073803 chr3:185480299-185480299;G/C missense_variant False MAP3K13@p.D451N 1 0.131147541 ENSG00000073803 chr3:185463622-185463622;G/A missense_variant False MAP3K12@p.S832C 1 0.142857143 ENSG00000139625 chr12:53481267-53481267;G/C missense_variant False MAP3K12@p.S536L 1 0.177777778 ENSG00000139625 chr12:53483097-53483097;G/A missense_variant False MAP3K12@p.S536Hfs*45 1 0.25 ENSG00000139625 chr12:53483099-53483099;G/- frameshift_variant False MAP3K14@p.T197N 1 0.46875 ENSG00000006062 chr17:45286993-45286993;G/T missense_variant False MAP3K15@p.G990Afs*66 1 0.315789474 ENSG00000180815 chrX:19372792-19372792;C/- frameshift_variant False MAP3K15@p.R339G 1 0.8125 ENSG00000180815 chrX:19431589-19431589;G/C missense_variant False MAP3K15@p.S1072L 1 0.457627119 ENSG00000180815 chrX:19371424-19371424;G/A missense_variant False MAP3K15@p.T1163A 1 0.068965517 ENSG00000180815 chrX:19369133-19369133;T/C missense_variant False MAP3K19@p.D1249N 1 0.179104478 ENSG00000176601 chr2:134980996-134980996;C/T missense_variant False MAP3K19@p.R696H 1 0.423076923 ENSG00000176601 chr2:134986785-134986785;C/T missense_variant False MAP3K19@p.R88K 1 0.073684211 ENSG00000176601 chr2:134999988-134999988;C/T missense_variant False MAP3K19@p.S1150T 1 0.2 ENSG00000176601 chr2:134981292-134981292;C/G missense_variant False MAP3K19@p.S23C 1 0.121212121 ENSG00000176601 chr2:135021785-135021785;G/C missense_variant False MAP3K19@p.S368L 1 0.418604651 ENSG00000176601 chr2:134987769-134987769;G/A missense_variant False MAP3K1@p.D645H 1 0.117647059 ENSG00000095015 chr5:56875278-56875278;G/C missense_variant True MAP3K1@p.E1179K 1 0.195121951 ENSG00000095015 chr5:56882735-56882735;G/A missense_variant True MAP3K1@p.E753Q 1 0.241935484 ENSG00000095015 chr5:56881160-56881160;G/C missense_variant True MAP3K1@p.E864Q 1 0.204819277 ENSG00000095015 chr5:56881790-56881790;G/C missense_variant True MAP3K1@p.R1355H 1 0.391891892 ENSG00000095015 chr5:56886013-56886013;G/A missense_variant True MAP3K1@p.R855C 1 0.109090909 ENSG00000095015 chr5:56881763-56881763;C/T missense_variant True MAP3K12@p.S11F 1 0.367088608 ENSG00000139625 chr12:53487360-53487360;G/A missense_variant False MAP3K12@p.K163T 1 0.212765957 ENSG00000139625 chr12:53486481-53486481;T/G missense_variant False MAP2@p.M237I 1 0.186206897 ENSG00000078018 chr2:209692881-209692881;G/A missense_variant False MAP2K3@p.G210C 1 0.144329897 ENSG00000034152 chr17:21304485-21304485;G/T missense_variant False MAP2K4@p.P326A 1 0.507246377 ENSG00000065559 chr17:12129223-12129223;C/G missense_variant False MAP2K4@p.P325T 1 0.294117647 ENSG00000065559 chr17:12129220-12129220;C/A missense_variant False MAP2K4@p.P159L 1 0.141025641 ENSG00000065559 chr17:12095657-12095657;C/T missense_variant False MAP2K4@p.E332K 1 0.166666667 ENSG00000065559 chr17:12129241-12129241;G/A missense_variant False MAP2K3@p.W137C 1 0.176 ENSG00000034152 chr17:21302154-21302154;G/T missense_variant False MAP2K3@p.R152Q 1 0.178571429 ENSG00000034152 chr17:21302198-21302198;G/A missense_variant False MAP2K3@p.D110N 1 0.105769231 ENSG00000034152 chr17:21300922-21300922;G/A missense_variant False MAP3K12@p.E408K 1 0.142156863 ENSG00000139625 chr12:53483948-53483948;C/T missense_variant False MAP2K2@p.Y134C 1 0.169811321 ENSG00000126934 chr19:4110558-4110558;T/C missense_variant False MAP2K2@p.P128L 1 0.403846154 ENSG00000126934 chr19:4110576-4110576;G/A missense_variant False MAP2K2@p.L58V 1 0.380434783 ENSG00000126934 chr19:4117550-4117550;G/C missense_variant False MAP2K2@p.E237Q 1 0.166666667 ENSG00000126934 chr19:4099411-4099411;C/G missense_variant False MAP2K1@p.L235H 1 0.363984674 ENSG00000169032 chr15:66485000-66485000;T/A missense_variant True MAP2@p.V1476I 1 0.120689655 ENSG00000078018 chr2:209696955-209696955;G/A missense_variant False MAP2K5@p.D377N 1 0.272727273 ENSG00000137764 chr15:67748596-67748596;G/A missense_variant False MAP2K5@p.G177V 1 0.396825397 ENSG00000137764 chr15:67600734-67600734;G/T missense_variant False MAP2K5@p.G229V 1 0.166666667 ENSG00000137764 chr15:67646419-67646419;G/T missense_variant False MAP2K5@p.R262K 1 0.195488722 ENSG00000137764 chr15:67658601-67658601;G/A missense_variant False MAP2K6@p.C128Y 1 0.545454545 ENSG00000108984 chr17:69520286-69520286;G/A missense_variant False MAP2K6@p.S292L 1 0.263157895 ENSG00000108984 chr17:69526703-69526703;C/T missense_variant False MAP2K7@p.E23K 1 0.5 ENSG00000076984 chr19:7904011-7904011;G/A missense_variant False MAP2K7@p.T103M 1 0.272727273 ENSG00000076984 chr19:7910104-7910104;C/T missense_variant False MAP3K10@p.E337K 1 0.375 ENSG00000130758 chr19:40204630-40204630;G/A missense_variant False MAP3K10@p.R857H 1 0.448275862 ENSG00000130758 chr19:40214997-40214997;G/A missense_variant False MAP3K11@p.D51H 1 0.391304348 ENSG00000173327 chr11:65613606-65613606;C/G missense_variant False MAP3K11@p.E139K 1 0.507692308 ENSG00000173327 chr11:65613342-65613342;C/T missense_variant False MAP3K11@p.S300F 1 0.3 ENSG00000173327 chr11:65608289-65608289;G/A missense_variant False MAP3K12@p.A2V 1 0.430379747 ENSG00000139625 chr12:53487387-53487387;G/A missense_variant False MAP3K12@p.D370N 1 0.132075472 ENSG00000139625 chr12:53484298-53484298;C/T missense_variant False MAP3K12@p.E307K 1 0.214285714 ENSG00000139625 chr12:53485177-53485177;C/T missense_variant False MAP3K12@p.E388K 1 0.111842105 ENSG00000139625 chr12:53484008-53484008;C/T missense_variant False MAP10@p.K44T 1 0.440329218 ENSG00000212916 chr1:232805154-232805154;A/C missense_variant False MAP10@p.E805D 1 0.553846154 ENSG00000212916 chr1:232807438-232807438;A/T missense_variant False MAP10@p.E661K 1 0.375 ENSG00000212916 chr1:232807004-232807004;G/A missense_variant False MAMDC4@p.E561K 1 0.086956522 ENSG00000177943 chr9:136856110-136856110;G/A missense_variant False MAML1@p.Y611C 1 0.383647799 ENSG00000161021 chr5:179768950-179768950;A/G missense_variant False MAML1@p.G233S 1 0.290322581 ENSG00000161021 chr5:179765707-179765707;G/A missense_variant False MAML1@p.D132V 1 0.453125 ENSG00000161021 chr5:179765405-179765405;A/T missense_variant False MAMDC4@p.R537Q 1 0.148148148 ENSG00000177943 chr9:136856039-136856039;G/A missense_variant False MAMDC4@p.Q1178H 1 0.263157895 ENSG00000177943 chr9:136859989-136859989;G/C missense_variant False MAMDC4@p.G1116R 1 0.13253012 ENSG00000177943 chr9:136859233-136859233;G/C missense_variant False MAMDC4@p.E216K 1 0.18 ENSG00000177943 chr9:136854052-136854052;G/A missense_variant False MALT1@p.S382L 1 0.389830508 ENSG00000172175 chr18:58723174-58723174;C/T missense_variant False MAMDC4@p.E1018K 1 0.2 ENSG00000177943 chr9:136858540-136858540;G/A missense_variant False MAMDC4@p.D686E 1 0.4375 ENSG00000177943 chr9:136856810-136856810;C/A missense_variant False MAMDC2@p.R113S 1 0.384615385 ENSG00000165072 chr9:70108399-70108399;C/A missense_variant False MAMDC2@p.M104I 1 0.162790698 ENSG00000165072 chr9:70108374-70108374;G/C missense_variant False MAMDC2@p.K658T 1 0.153846154 ENSG00000165072 chr9:70225811-70225811;A/C missense_variant False MAMDC2@p.E685Q 1 0.357142857 ENSG00000165072 chr9:70226024-70226024;G/C missense_variant False MAML2@p.G724S 1 0.359375 ENSG00000184384 chr11:95991693-95991693;C/T missense_variant False MAML2@p.L753F 1 0.142857143 ENSG00000184384 chr11:95991604-95991604;C/G missense_variant False MAML2@p.M235I 1 0.22972973 ENSG00000184384 chr11:96093326-96093326;C/G missense_variant False MAML2@p.N1070S 1 0.516666667 ENSG00000184384 chr11:95979210-95979210;T/C missense_variant False MAML2@p.R43G 1 0.333333333 ENSG00000184384 chr11:96341769-96341769;G/C missense_variant False MAML2@p.R60P 1 0.172413793 ENSG00000184384 chr11:96341717-96341717;C/G missense_variant False MAML3@p.E338Q 1 0.233766234 ENSG00000196782 chr4:139890424-139890424;C/G missense_variant False MAML3@p.L597V 1 0.145728643 ENSG00000196782 chr4:139889647-139889647;G/C missense_variant False MAML3@p.Q950H 1 0.319727891 ENSG00000196782 chr4:139719890-139719890;C/G missense_variant False MAML3@p.R702Q 1 0.277777778 ENSG00000196782 chr4:139730642-139730642;C/T missense_variant False MAMLD1@p.S228L 1 0.247933884 ENSG00000013619 chrX:150470256-150470256;C/T missense_variant False MAMLD1@p.S445F 1 0.352657005 ENSG00000013619 chrX:150470907-150470907;C/T missense_variant False MAMSTR@p.D321N 1 0.314814815 ENSG00000176909 chr19:48713719-48713719;C/T missense_variant False MAMSTR@p.S129C 1 0.266666667 ENSG00000176909 chr19:48715301-48715301;G/C missense_variant False MAN1A1@p.E126K 1 0.369863014 ENSG00000111885 chr6:119348690-119348690;C/T missense_variant False MAN1A1@p.Q159R 1 0.069444444 ENSG00000111885 chr6:119348590-119348590;T/C missense_variant False MAN1A1@p.R169T 1 0.230215827 ENSG00000111885 chr6:119348560-119348560;C/G missense_variant False MALT1@p.S78P 1 0.647058824 ENSG00000172175 chr18:58681192-58681192;T/C missense_variant False MALT1@p.N193Mfs*32 1 0.388888889 ENSG00000172175 chr18:58700519-58700561;AATAACAATTTCACCTTTGAATTCAGCCAGTGGTCACAGCTGG/- frameshift_variant False MAN1A2@p.E116K 1 0.209876543 ENSG00000198162 chr1:117402229-117402229;G/A missense_variant False MAGOH@p.I90Sfs*40 1 0.2 ENSG00000162385 chr1:53228945-53228945;T/- frameshift_variant False MAIP1@p.E146Q 1 0.327102804 ENSG00000162972 chr2:199956234-199956234;G/C missense_variant False MAGT1@p.E288Q 1 0.833333333 ENSG00000102158 chrX:77841285-77841285;C/G missense_variant False MAGT1@p.A17V 1 0.266666667 ENSG00000102158 chrX:77895361-77895361;G/A missense_variant False MAGOHB@p.S100C 1 0.109589041 ENSG00000111196 chr12:10607902-10607902;G/C missense_variant False MAGOHB@p.M59_I65del 1 0.311111111 ENSG00000111196 chr12:10609898-10609918;ATAATTCTCTTCAGTTCTTCC/- inframe_deletion False MAGOH@p.R82Q 1 0.508196721 ENSG00000162385 chr1:53233555-53233555;C/T missense_variant False MAGIX@p.Q108P 1 0.068322981 ENSG00000269313 chrX:49164906-49164906;A/C missense_variant False MALT1@p.M96L 1 0.151515152 ENSG00000172175 chr18:58681246-58681246;A/T missense_variant False MAGIX@p.P228L 1 0.75 ENSG00000269313 chrX:49166077-49166077;C/T missense_variant False MAGI3@p.S557L 1 0.051724138 ENSG00000081026 chr1:113642220-113642220;C/T missense_variant False MAGI3@p.R1314Q 1 0.324786325 ENSG00000081026 chr1:113683509-113683509;G/A missense_variant False MAGI3@p.Q120E 1 0.294117647 ENSG00000081026 chr1:113549556-113549556;C/G missense_variant False MAGI3@p.L295V 1 0.076923077 ENSG00000081026 chr1:113590603-113590603;C/G missense_variant False MAGI3@p.K620Cfs*21 1 0.208333333 ENSG00000081026 chr1:113642408-113642427;AAGGAAATATACCATCAAAA/- frameshift_variant False MAIP1@p.S140N 1 0.247863248 ENSG00000162972 chr2:199956217-199956217;G/A missense_variant False MAJIN@p.F87L 1 0.488 ENSG00000168070 chr11:64949831-64949831;G/C missense_variant False MAJIN@p.S179A 1 0.19047619 ENSG00000168070 chr11:64940585-64940585;A/C missense_variant False MAK16@p.D207N 1 0.555555556 ENSG00000198042 chr8:33496721-33496721;G/A missense_variant False MAK16@p.H184Y 1 0.216216216 ENSG00000198042 chr8:33496652-33496652;C/T missense_variant False MAK@p.I32M 1 0.372093023 ENSG00000111837 chr6:10830553-10830553;G/C missense_variant False MAK@p.Q336P 1 0.094736842 ENSG00000111837 chr6:10796134-10796134;T/G missense_variant False MAK@p.S446L 1 0.442857143 ENSG00000111837 chr6:10784552-10784552;G/A missense_variant False MAL@p.S152F 1 0.182926829 ENSG00000172005 chr2:95053448-95053448;C/T missense_variant False MALSU1@p.D154Y 1 0.383233533 ENSG00000156928 chr7:23307892-23307892;G/T missense_variant False MALSU1@p.E117Q 1 0.470588235 ENSG00000156928 chr7:23300931-23300931;G/C missense_variant False MALSU1@p.E183Q 1 0.155737705 ENSG00000156928 chr7:23309385-23309385;G/C missense_variant False MALSU1@p.R107G 1 0.34965035 ENSG00000156928 chr7:23300901-23300901;A/G missense_variant False MALT1@p.E305Q 1 0.279411765 ENSG00000172175 chr18:58710060-58710060;G/C missense_variant False MALT1@p.E497V 1 0.413793103 ENSG00000172175 chr18:58735216-58735216;A/T missense_variant False MALT1@p.H797R 1 0.226923077 ENSG00000172175 chr18:58747757-58747757;A/G missense_variant False MALT1@p.M351I 1 0.247191011 ENSG00000172175 chr18:58723082-58723082;G/T missense_variant False MAN1A2@p.E103Q 1 0.552238806 ENSG00000198162 chr1:117402190-117402190;G/C missense_variant False MAN1A2@p.E152K 1 0.354166667 ENSG00000198162 chr1:117402337-117402337;G/A missense_variant False MAP10@p.E397K 1 0.222641509 ENSG00000212916 chr1:232806212-232806212;G/A missense_variant False MAN2C1@p.R768W 1 0.161290323 ENSG00000140400 chr15:75358563-75358563;G/A missense_variant False MANEA@p.E129Q 1 0.37628866 ENSG00000172469 chr6:95586824-95586824;G/C missense_variant False MANBAL@p.G29A 1 0.112582781 ENSG00000101363 chr20:37301349-37301349;G/C missense_variant False MANBA@p.S362L 1 0.268965517 ENSG00000109323 chr4:102673946-102673946;G/A missense_variant False MANBA@p.Q472E 1 0.321428571 ENSG00000109323 chr4:102669004-102669004;G/C missense_variant False MANBA@p.L651del 1 0.326315789 ENSG00000109323 chr4:102650590-102650592;GGA/- inframe_deletion False MANBA@p.I665M 1 0.195121951 ENSG00000109323 chr4:102650549-102650549;G/C missense_variant False MAN2C1@p.M657L 1 0.192307692 ENSG00000140400 chr15:75359405-75359405;T/G missense_variant False MAN2B2@p.E427K 1 0.205607477 ENSG00000013288 chr4:6598228-6598228;G/A missense_variant False MAN2C1@p.M161V 1 0.088888889 ENSG00000140400 chr15:75364607-75364607;T/C missense_variant False MAN2C1@p.E106K 1 0.102564103 ENSG00000140400 chr15:75367546-75367546;C/T missense_variant False MAN2B2@p.R71G 1 0.384615385 ENSG00000013288 chr4:6576650-6576650;C/G missense_variant False MAN2B2@p.R567H 1 0.282352941 ENSG00000013288 chr4:6605215-6605215;G/A missense_variant False MAN2B2@p.M758I 1 0.114285714 ENSG00000013288 chr4:6610894-6610894;G/A missense_variant False MAN2B2@p.L136F 1 0.55 ENSG00000013288 chr4:6587010-6587010;C/T missense_variant False MANEA@p.G112R 1 0.347826087 ENSG00000172469 chr6:95586773-95586773;G/A missense_variant False MANEA@p.G319E 1 0.203703704 ENSG00000172469 chr6:95605972-95605972;G/A missense_variant False MANEA@p.N375D 1 0.54954955 ENSG00000172469 chr6:95606139-95606139;A/G missense_variant False MANEAL@p.D298N 1 0.423076923 ENSG00000185090 chr1:37799721-37799721;G/A missense_variant False MANEAL@p.Q454H 1 0.11409396 ENSG00000185090 chr1:37800191-37800191;G/T missense_variant False MANEAL@p.T386M 1 0.424778761 ENSG00000185090 chr1:37799986-37799986;C/T missense_variant False MANSC1@p.M188T 1 0.376811594 ENSG00000111261 chr12:12330760-12330760;A/G missense_variant False MANSC1@p.R169T 1 0.141666667 ENSG00000111261 chr12:12330817-12330817;C/G missense_variant False MANSC1@p.V402I 1 0.275 ENSG00000111261 chr12:12330119-12330119;C/T missense_variant False MAOA@p.G235R 1 0.8 ENSG00000189221 chrX:43731298-43731298;G/A missense_variant False MAOA@p.H187Q 1 0.287581699 ENSG00000189221 chrX:43728230-43728230;C/A missense_variant False MAOA@p.P332A 1 0.259259259 ENSG00000189221 chrX:43732737-43732737;C/G missense_variant False MAOA@p.V220I 1 0.435897436 ENSG00000189221 chrX:43731253-43731253;G/A missense_variant False MAOA@p.Y100N 1 0.373333333 ENSG00000189221 chrX:43693420-43693420;T/A missense_variant False MAP10@p.A134V 1 0.425 ENSG00000212916 chr1:232805424-232805424;C/T missense_variant False MAP10@p.D316N 1 0.3 ENSG00000212916 chr1:232805969-232805969;G/A missense_variant False MAP10@p.E371K 1 0.125 ENSG00000212916 chr1:232806134-232806134;G/A missense_variant False MAN2B2@p.E776Q 1 0.164835165 ENSG00000013288 chr4:6610946-6610946;G/C missense_variant False MAN2B1@p.T640S 1 0.255319149 ENSG00000104774 chr19:12652373-12652373;T/A missense_variant False MAN1A2@p.H622Y 1 0.2625 ENSG00000198162 chr1:117522895-117522895;C/T missense_variant False MAN1B1@p.S17T 1 0.611111111 ENSG00000177239 chr9:137087048-137087048;T/A missense_variant False MAN2A1@p.F15L 1 0.72 ENSG00000112893 chr5:109690462-109690462;C/G missense_variant False MAN2A1@p.D254N 1 0.36036036 ENSG00000112893 chr5:109755381-109755381;G/A missense_variant False MAN1C1@p.S13F 1 0.392857143 ENSG00000117643 chr1:25617835-25617835;C/T missense_variant False MAN1C1@p.E499Q 1 0.402985075 ENSG00000117643 chr1:25780957-25780957;G/C missense_variant False MAN1C1@p.D162N 1 0.272727273 ENSG00000117643 chr1:25618281-25618281;G/A missense_variant False MAN1B1@p.Y101N 1 0.125 ENSG00000177239 chr9:137088156-137088156;T/A missense_variant False MAN1B1@p.M121I 1 0.643939394 ENSG00000177239 chr9:137088903-137088903;G/A missense_variant False MAN2B1@p.R839P 1 0.407407407 ENSG00000104774 chr19:12648323-12648323;C/G missense_variant False MAN1B1@p.I695M 1 0.444444444 ENSG00000177239 chr9:137108576-137108576;C/G missense_variant False MAN1B1@p.E283K 1 0.085714286 ENSG00000177239 chr9:137099812-137099812;G/A missense_variant False MAN1B1@p.D486N 1 0.405405405 ENSG00000177239 chr9:137106699-137106699;G/A missense_variant False MAN1A2@p.S129L 1 0.159090909 ENSG00000198162 chr1:117402269-117402269;C/T missense_variant False MAN1A2@p.R383T 1 0.25 ENSG00000198162 chr1:117466407-117466407;G/C missense_variant False MAN1A2@p.L31F 1 0.237704918 ENSG00000198162 chr1:117368276-117368276;G/C missense_variant False MAN2A1@p.H1015N 1 0.5 ENSG00000112893 chr5:109855206-109855206;C/A missense_variant False MAN2A1@p.H1047Y 1 0.225806452 ENSG00000112893 chr5:109855302-109855302;C/T missense_variant False MAN2A1@p.H392Y 1 0.186046512 ENSG00000112893 chr5:109770519-109770519;C/T missense_variant False MAN2A1@p.K365E 1 0.52991453 ENSG00000112893 chr5:109770438-109770438;A/G missense_variant False MAN2A1@p.L1051F 1 0.395348837 ENSG00000112893 chr5:109855316-109855316;G/C missense_variant False MAN2A1@p.L650F 1 0.131313131 ENSG00000112893 chr5:109817277-109817277;C/T missense_variant False MAN2A1@p.Q167E 1 0.471698113 ENSG00000112893 chr5:109716228-109716228;C/G missense_variant False MAN2A1@p.R1072T 1 0.288888889 ENSG00000112893 chr5:109865079-109865079;G/C missense_variant False MAN2A1@p.S158C 1 0.285714286 ENSG00000112893 chr5:109716202-109716202;C/G missense_variant False MAN2A2@p.H852N 1 0.25 ENSG00000196547 chr15:90912961-90912961;C/A missense_variant False MAN2A2@p.L464F 1 0.065420561 ENSG00000196547 chr15:90910105-90910105;C/T missense_variant False MAN2A2@p.M1140T 1 0.31372549 ENSG00000196547 chr15:90919753-90919753;T/C missense_variant False MAN2A2@p.M309I 1 0.262135922 ENSG00000196547 chr15:90906831-90906831;G/A missense_variant False MAN2B1@p.H70Y 1 0.328358209 ENSG00000104774 chr19:12665757-12665757;G/A missense_variant False MAN2B1@p.Q767L 1 0.25 ENSG00000104774 chr19:12649396-12649396;T/A missense_variant False MAN2B1@p.R283C 1 0.277777778 ENSG00000104774 chr19:12663379-12663379;G/A missense_variant False MAN2B1@p.R708Q 1 0.315789474 ENSG00000104774 chr19:12650146-12650146;C/T missense_variant False MAP3K20@p.G662Afs*170 1 0.181818182 ENSG00000091436 chr2:173266331-173266331;G/- frameshift_variant False MAP3K20@p.L209F 1 0.202380952 ENSG00000091436 chr2:173198070-173198070;G/T missense_variant False MAGI3@p.I1358M 1 0.153846154 ENSG00000081026 chr1:113683642-113683642;C/G missense_variant False MAPK9@p.N63K 1 0.871794872 ENSG00000050748 chr5:180269343-180269343;G/T missense_variant False MAPKAPK3@p.G11Cfs*27 1 0.590909091 ENSG00000114738 chr3:50617595-50617601;GGGCCCT/- frameshift_variant False MAPKAPK2@p.R278C 1 0.241758242 ENSG00000162889 chr1:206731202-206731202;C/T missense_variant False MAPKAP1@p.R503T 1 0.551724138 ENSG00000119487 chr9:125438948-125438948;C/G missense_variant False MAPKAP1@p.E477K 1 0.235294118 ENSG00000119487 chr9:125444515-125444515;C/T missense_variant False MAPKAP1@p.E220K 1 0.322916667 ENSG00000119487 chr9:125585568-125585568;C/T missense_variant False MAPK9@p.V15L 1 0.163636364 ENSG00000050748 chr5:180280519-180280519;C/G missense_variant False MAPK9@p.E204K 1 0.422744129 ENSG00000050748 chr5:180248979-180248979;C/T missense_variant False MAPKAPK5@p.P358L 1 0.240601504 ENSG00000089022 chr12:111888591-111888591;C/T missense_variant False MAPK8IP3@p.S609I 1 0.49122807 ENSG00000138834 chr16:1762937-1762937;G/T missense_variant False MAPK8IP3@p.R494C 1 0.06 ENSG00000138834 chr16:1761249-1761249;C/T missense_variant False MAPK8IP3@p.Q125E 1 0.177419355 ENSG00000138834 chr16:1724611-1724611;C/G missense_variant False MAPK8IP3@p.E72K 1 0.342857143 ENSG00000138834 chr16:1706553-1706553;G/A missense_variant False MAPK8IP3@p.E473Q 1 0.23255814 ENSG00000138834 chr16:1760495-1760495;G/C missense_variant False MAPK8IP3@p.E463Q 1 0.287769784 ENSG00000138834 chr16:1760465-1760465;G/C missense_variant False MAPKAPK3@p.Q68H 1 0.483333333 ENSG00000114738 chr3:50617769-50617769;G/C missense_variant False MAPKAPK5@p.Q45E 1 0.25 ENSG00000089022 chr12:111866178-111866178;C/G missense_variant False MAP3K20@p.Q625E 1 0.111111111 ENSG00000091436 chr2:173266220-173266220;C/G missense_variant False MAPRE1@p.D123N 1 0.492537313 ENSG00000101367 chr20:32836733-32836733;G/A missense_variant False MAPRE2@p.N286I 1 0.276595745 ENSG00000166974 chr18:35132138-35132138;A/T missense_variant False MAPRE2@p.H196Y 1 0.428571429 ENSG00000166974 chr18:35102135-35102135;C/T missense_variant False MAPRE2@p.D69N 1 0.096385542 ENSG00000166974 chr18:35070277-35070277;G/A missense_variant False MAPRE2@p.A212P 1 0.302083333 ENSG00000166974 chr18:35126971-35126971;G/C missense_variant False MAPRE1@p.N235Kfs*9 1 0.106382979 ENSG00000101367 chr20:32846725-32846725;C/- frameshift_variant False MAPRE1@p.E68Q 1 0.214285714 ENSG00000101367 chr20:32833797-32833797;G/C missense_variant False MAPRE1@p.A117T 1 0.678571429 ENSG00000101367 chr20:32836715-32836715;G/A missense_variant False MAPKBP1@p.D1459N 1 0.428571429 ENSG00000137802 chr15:41825266-41825266;G/A missense_variant False MAPKBP1@p.V838M 1 0.3 ENSG00000137802 chr15:41820844-41820844;G/A missense_variant False MAPKBP1@p.S89F 1 0.204081633 ENSG00000137802 chr15:41810942-41810942;C/T missense_variant False MAPKBP1@p.R53I 1 0.276923077 ENSG00000137802 chr15:41799866-41799866;G/T missense_variant False MAPKBP1@p.E1342K 1 0.216216216 ENSG00000137802 chr15:41823854-41823854;G/A missense_variant False MAPKBP1@p.D58N 1 0.277310924 ENSG00000137802 chr15:41799880-41799880;G/A missense_variant False MAPKBP1@p.D472N 1 0.194444444 ENSG00000137802 chr15:41815702-41815702;G/A missense_variant False MAPK8IP3@p.E356Q 1 0.071428571 ENSG00000138834 chr16:1748318-1748318;G/C missense_variant False MAPK8IP3@p.E118Q 1 0.289855072 ENSG00000138834 chr16:1724590-1724590;G/C missense_variant False MAPK8IP3@p.D926N 1 0.25 ENSG00000138834 chr16:1766369-1766369;G/A missense_variant False MAPK3@p.E98K 1 0.454545455 ENSG00000102882 chr16:30121885-30121885;C/T missense_variant False MAPK4@p.R275H 1 0.333333333 ENSG00000141639 chr18:50722070-50722070;G/A missense_variant False MAPK4@p.E280K 1 0.266666667 ENSG00000141639 chr18:50722084-50722084;G/A missense_variant False MAPK4@p.A172V 1 0.196850394 ENSG00000141639 chr18:50664473-50664473;C/T missense_variant False MAPK3@p.R318W 1 0.493421053 ENSG00000102882 chr16:30116959-30116959;G/A missense_variant False MAPK3@p.R16I 1 0.5 ENSG00000102882 chr16:30123163-30123163;C/A missense_variant False MAPK3@p.I73M 1 0.379310345 ENSG00000102882 chr16:30121958-30121958;G/C missense_variant False MAPK3@p.E18Q 1 0.685714286 ENSG00000102882 chr16:30123158-30123158;C/G missense_variant False MAPK8IP3@p.D340N 1 0.236111111 ENSG00000138834 chr16:1748270-1748270;G/A missense_variant False MAPK3@p.D335N 1 0.104294479 ENSG00000102882 chr16:30116908-30116908;C/T missense_variant False MAPK15@p.L344P 1 0.196969697 ENSG00000181085 chr8:143721238-143721238;T/C missense_variant False MAPK15@p.G476D 1 0.181818182 ENSG00000181085 chr8:143721849-143721849;G/A missense_variant False MAPK15@p.G347V 1 0.330097087 ENSG00000181085 chr8:143721247-143721247;G/T missense_variant False MAPK15@p.E334Q 1 0.142857143 ENSG00000181085 chr8:143721082-143721082;G/C missense_variant False MAPK14@p.P191S 1 0.08 ENSG00000112062 chr6:36075923-36075923;C/T missense_variant False MAPK4@p.R407H 1 0.62962963 ENSG00000141639 chr18:50729310-50729310;G/A missense_variant False MAPK4@p.S186L 1 0.149425287 ENSG00000141639 chr18:50715089-50715089;C/T missense_variant False MAPK6@p.H12Y 1 0.1 ENSG00000069956 chr15:52046494-52046494;C/T missense_variant False MAPK6@p.K636E 1 0.271428571 ENSG00000069956 chr15:52064740-52064740;A/G missense_variant False MAPK6@p.N456D 1 0.227272727 ENSG00000069956 chr15:52064200-52064200;A/G missense_variant False MAPK6@p.Q379L 1 0.157894737 ENSG00000069956 chr15:52063970-52063970;A/T missense_variant False MAPK6@p.S487C 1 0.285714286 ENSG00000069956 chr15:52064294-52064294;C/G missense_variant False MAPK7@p.E370K 1 0.178947368 ENSG00000166484 chr17:19381317-19381317;G/A missense_variant False MAPK7@p.G738E 1 0.474358974 ENSG00000166484 chr17:19382862-19382862;G/A missense_variant False MAPK7@p.P605S 1 1.0 ENSG00000166484 chr17:19382116-19382116;C/T missense_variant False MAPK8@p.D283H 1 0.073170732 ENSG00000107643 chr10:48426046-48426046;G/C missense_variant False MAPK8@p.E247Q 1 0.142857143 ENSG00000107643 chr10:48425938-48425938;G/C missense_variant False MAPK8@p.P246R 1 0.4 ENSG00000107643 chr10:48425936-48425936;C/G missense_variant False MAPK8@p.Q240R 1 0.160714286 ENSG00000107643 chr10:48425918-48425918;A/G missense_variant False MAPK8IP1@p.E343Q 1 0.25 ENSG00000121653 chr11:45902794-45902794;G/C missense_variant False MAPK8IP1@p.S375P 1 0.666666667 ENSG00000121653 chr11:45902890-45902890;T/C missense_variant False MAPK8IP2@p.D621Y 1 0.444444444 ENSG00000008735 chr22:50605581-50605581;G/T missense_variant False MAPRE2@p.P2L 1 0.481675393 ENSG00000166974 chr18:35041544-35041544;C/T missense_variant False MAPRE3@p.I236M 1 0.135135135 ENSG00000084764 chr2:27025963-27025963;C/G missense_variant False MAPRE3@p.R192Q 1 0.229166667 ENSG00000084764 chr2:27025688-27025688;G/A missense_variant False MARCHF8@p.R121H 1 0.48 ENSG00000165406 chr10:45461292-45461292;C/T missense_variant False MARCO@p.G352A 1 0.294642857 ENSG00000019169 chr2:118982402-118982402;G/C missense_variant False MARCO@p.E227K 1 0.5 ENSG00000019169 chr2:118977848-118977848;G/A missense_variant False MARCKS@p.E332Q 1 0.582822086 ENSG00000277443 chr6:113860574-113860574;G/C missense_variant False MARCKS@p.E332K 1 0.257142857 ENSG00000277443 chr6:113860574-113860574;G/A missense_variant False MARCKS@p.E13Q 1 0.344827586 ENSG00000277443 chr6:113857782-113857782;G/C missense_variant False MARCHF9@p.K212N 1 0.269662921 ENSG00000139266 chr12:57758230-57758230;G/T missense_variant False MARCHF7@p.R471K 1 0.154269972 ENSG00000136536 chr2:159748702-159748702;G/A missense_variant False MARCHF7@p.G104R 1 0.328947368 ENSG00000136536 chr2:159743217-159743217;G/A missense_variant False MARCHF7@p.R406T 1 0.379310345 ENSG00000136536 chr2:159748507-159748507;G/C missense_variant False MARCHF7@p.R353Q 1 0.392857143 ENSG00000136536 chr2:159748348-159748348;G/A missense_variant False MARCHF7@p.R29K 1 0.139534884 ENSG00000136536 chr2:159729108-159729108;G/A missense_variant False MARCHF7@p.R285L 1 0.063063063 ENSG00000136536 chr2:159748144-159748144;G/T missense_variant False MARCHF7@p.Q468E 1 0.11827957 ENSG00000136536 chr2:159748692-159748692;C/G missense_variant False MARCHF7@p.Q264E 1 0.117647059 ENSG00000136536 chr2:159748080-159748080;C/G missense_variant False MARCO@p.G406R 1 0.377358491 ENSG00000019169 chr2:118992440-118992440;G/A missense_variant False MARCO@p.H22Y 1 0.161764706 ENSG00000019169 chr2:118942364-118942364;C/T missense_variant False MARCO@p.K473E 1 0.418439716 ENSG00000019169 chr2:118993288-118993288;A/G missense_variant False MARCO@p.T491M 1 0.220930233 ENSG00000019169 chr2:118994429-118994429;C/T missense_variant False MARF1@p.E1258K 1 0.157894737 ENSG00000166783 chr16:15609705-15609705;C/T missense_variant False MARF1@p.E1654Q 1 0.342105263 ENSG00000166783 chr16:15598878-15598878;C/G missense_variant False MARF1@p.E967Q 1 0.348484848 ENSG00000166783 chr16:15617357-15617357;C/G missense_variant False MARF1@p.K1092N 1 0.105882353 ENSG00000166783 chr16:15612755-15612755;C/G missense_variant False MARF1@p.Q299E 1 0.112244898 ENSG00000166783 chr16:15634868-15634868;G/C missense_variant False MARF1@p.R376T 1 0.198473282 ENSG00000166783 chr16:15633723-15633723;C/G missense_variant False MARF1@p.R386T 1 0.268907563 ENSG00000166783 chr16:15633693-15633693;C/G missense_variant False MARK1@p.D347H 1 0.103174603 ENSG00000116141 chr1:220632230-220632230;G/C missense_variant False MARK1@p.E156Q 1 0.168141593 ENSG00000116141 chr1:220604108-220604108;G/C missense_variant False MARK1@p.E376K 1 0.153846154 ENSG00000116141 chr1:220635379-220635379;G/A missense_variant False MARK1@p.E736Q 1 0.057471264 ENSG00000116141 chr1:220661984-220661984;G/C missense_variant False MARK1@p.K157I 1 0.276190476 ENSG00000116141 chr1:220604112-220604112;A/T missense_variant False MARK1@p.K289N 1 0.380952381 ENSG00000116141 chr1:220618713-220618713;G/T missense_variant False MARCHF7@p.L576F 1 0.272727273 ENSG00000136536 chr2:159752516-159752516;G/C missense_variant False MARCHF7@p.C570Y 1 0.053012048 ENSG00000136536 chr2:159752497-159752497;G/A missense_variant False MAPT@p.D13N 1 0.25 ENSG00000186868 chr17:45962374-45962374;G/A missense_variant False MAPT@p.P511T 1 0.429042904 ENSG00000186868 chr17:45990001-45990001;C/A missense_variant False MARCHF10@p.Q552E 1 0.155844156 ENSG00000173838 chr17:62736214-62736214;G/C missense_variant False MARCHF10@p.P462A 1 0.16091954 ENSG00000173838 chr17:62736484-62736484;G/C missense_variant False MARCHF10@p.M112I 1 0.177966102 ENSG00000173838 chr17:62759881-62759881;C/G missense_variant False MARCHF10@p.E74K 1 0.67961165 ENSG00000173838 chr17:62759997-62759997;C/T missense_variant False MARCHF10@p.D488Y 1 0.087719298 ENSG00000173838 chr17:62736406-62736406;C/A missense_variant False MAPT@p.P611H 1 0.433333333 ENSG00000186868 chr17:45996498-45996498;C/A missense_variant False MAPT@p.P511L 1 0.424342105 ENSG00000186868 chr17:45990002-45990002;C/T missense_variant False MARCHF6@p.Q166H 1 0.230046948 ENSG00000145495 chr5:10390422-10390422;G/C missense_variant False MAPT@p.K515E 1 0.478764479 ENSG00000186868 chr17:45990013-45990013;A/G missense_variant False MAPT@p.G462R 1 0.113636364 ENSG00000186868 chr17:45987072-45987072;G/A missense_variant False MAPT@p.E88K 1 0.346938776 ENSG00000186868 chr17:45978416-45978416;G/A missense_variant False MAPT@p.E531K 1 0.488372093 ENSG00000186868 chr17:45990061-45990061;G/A missense_variant False MAPT@p.E423V 1 0.210526316 ENSG00000186868 chr17:45983847-45983847;A/T missense_variant False MAPT@p.D750Afs*12 1 0.291970803 ENSG00000186868 chr17:46018685-46018706;GTCCCTGGACAATATCACCCAC/- frameshift_variant False MARCHF10@p.Q759H 1 0.054263566 ENSG00000173838 chr17:62711282-62711282;C/G missense_variant False MARCHF10@p.S323L 1 0.386018237 ENSG00000173838 chr17:62736900-62736900;G/A missense_variant False MARCHF10@p.S343C 1 0.184782609 ENSG00000173838 chr17:62736840-62736840;G/C missense_variant False MARCHF11@p.Q197K 1 0.098039216 ENSG00000183654 chr5:16177830-16177830;G/T missense_variant False MARCHF11@p.Q368K 1 0.339285714 ENSG00000183654 chr5:16067578-16067578;G/T missense_variant False MARCHF11@p.R218K 1 0.202898551 ENSG00000183654 chr5:16177766-16177766;C/T missense_variant False MARCHF11@p.S341G 1 0.3 ENSG00000183654 chr5:16067659-16067659;T/C missense_variant False MARCHF11@p.V399M 1 0.462908012 ENSG00000183654 chr5:16067485-16067485;C/T missense_variant False MARCHF1@p.T95A 1 0.166666667 ENSG00000145416 chr4:163585889-163585889;T/C missense_variant False MARCHF4@p.E358K 1 0.123076923 ENSG00000144583 chr2:216259473-216259473;C/T missense_variant False MARCHF4@p.N333K 1 0.388888889 ENSG00000144583 chr2:216259546-216259546;G/T missense_variant False MARCHF5@p.G224S 1 0.296089385 ENSG00000198060 chr10:92349787-92349787;G/A missense_variant False MARCHF6@p.D241N 1 0.28 ENSG00000145495 chr5:10391686-10391686;G/A missense_variant False MARCHF6@p.E237Q 1 0.5 ENSG00000145495 chr5:10391674-10391674;G/C missense_variant False MARCHF6@p.L356V 1 0.426829268 ENSG00000145495 chr5:10402396-10402396;C/G missense_variant False MARCHF6@p.L388V 1 0.322147651 ENSG00000145495 chr5:10402572-10402572;C/G missense_variant False MARCHF6@p.P746L 1 0.238095238 ENSG00000145495 chr5:10417358-10417358;C/T missense_variant False MAPK14@p.E192Q 1 0.253968254 ENSG00000112062 chr6:36075926-36075926;G/C missense_variant False MAPK13@p.Q264H 1 0.317073171 ENSG00000156711 chr6:36138731-36138731;G/T missense_variant False MAPK13@p.D325N 1 0.272727273 ENSG00000156711 chr6:36139010-36139010;G/A missense_variant False MAP3K6@p.A635T 1 0.447368421 ENSG00000142733 chr1:27360938-27360938;C/T missense_variant False MAP3K7@p.D391N 1 0.109090909 ENSG00000135341 chr6:90547297-90547297;C/T missense_variant False MAP3K6@p.L696V 1 0.189189189 ENSG00000142733 chr1:27360337-27360337;G/C missense_variant False MAP3K6@p.E817K 1 0.12987013 ENSG00000142733 chr1:27358843-27358843;C/T missense_variant False MAP3K6@p.E1124Dfs*8 1 0.15 ENSG00000142733 chr1:27356726-27356742;GTGAGACCGCCTCCTTC/- frameshift_variant False MAP3K6@p.D1174H 1 0.130434783 ENSG00000142733 chr1:27356594-27356594;C/G missense_variant False MAP3K6@p.D1105Y 1 0.25 ENSG00000142733 chr1:27357060-27357060;C/A missense_variant False MAP3K5@p.T1168Cfs*13 1 0.308641975 ENSG00000197442 chr6:136580308-136580316;CAGGATGGT/A frameshift_variant False MAP3K5@p.H1145Y 1 0.376811594 ENSG00000197442 chr6:136580385-136580385;G/A missense_variant False MAP3K5@p.S72Y 1 0.166666667 ENSG00000197442 chr6:136791943-136791943;G/T missense_variant False MAP3K5@p.S329C 1 0.1875 ENSG00000197442 chr6:136696047-136696047;G/C missense_variant False MAP3K5@p.R683K 1 0.463768116 ENSG00000197442 chr6:136622950-136622950;C/T missense_variant False MAP3K5@p.P880L 1 0.203389831 ENSG00000197442 chr6:136605249-136605249;G/A missense_variant False MAP3K5@p.P593S 1 0.254237288 ENSG00000197442 chr6:136650995-136650995;G/A missense_variant False MAP3K5@p.L192V 1 0.482758621 ENSG00000197442 chr6:136720464-136720464;G/C missense_variant False MAP3K7@p.E558K 1 0.202531646 ENSG00000135341 chr6:90516650-90516650;C/T missense_variant False MAP3K7@p.R546I 1 0.416666667 ENSG00000135341 chr6:90518450-90518450;C/A missense_variant False MAP3K7@p.S276L 1 0.214285714 ENSG00000135341 chr6:90552089-90552089;G/A missense_variant False MAP3K7@p.S318L 1 0.381818182 ENSG00000135341 chr6:90548174-90548174;G/A missense_variant False MAP3K7CL@p.L186F 1 0.516129032 ENSG00000156265 chr21:29174719-29174719;C/T missense_variant False MAP3K8@p.D355N 1 0.425531915 ENSG00000107968 chr10:30459291-30459291;G/A missense_variant False MAP3K8@p.E43Q 1 0.254545455 ENSG00000107968 chr10:30439065-30439065;G/C missense_variant False MAP3K8@p.S177C 1 0.189189189 ENSG00000107968 chr10:30450283-30450283;C/G missense_variant False MAP3K9@p.A358T 1 0.258064516 ENSG00000006432 chr14:70750011-70750011;C/T missense_variant False MAP3K9@p.D435H 1 0.393162393 ENSG00000006432 chr14:70748852-70748852;C/G missense_variant False MAP3K9@p.D855N 1 0.159090909 ENSG00000006432 chr14:70732806-70732806;C/T missense_variant False MAP3K9@p.E1027D 1 0.09375 ENSG00000006432 chr14:70730614-70730614;C/G missense_variant False MAP3K9@p.E471Q 1 0.270833333 ENSG00000006432 chr14:70742507-70742507;C/G missense_variant False MAP3K9@p.E585K 1 0.25 ENSG00000006432 chr14:70738336-70738336;C/T missense_variant False MAP3K9@p.G755S 1 0.345454545 ENSG00000006432 chr14:70733106-70733106;C/T missense_variant False MAP3K9@p.K459N 1 0.428571429 ENSG00000006432 chr14:70742541-70742541;C/A missense_variant False MAP3K9@p.R251T 1 0.311688312 ENSG00000006432 chr14:70800735-70800735;C/G missense_variant False MAP3K5@p.I635M 1 0.409090909 ENSG00000197442 chr6:136639572-136639572;G/C missense_variant False MAP3K5@p.G790A 1 0.103448276 ENSG00000197442 chr6:136613166-136613166;C/G missense_variant False MAP4@p.K790M 1 0.383050847 ENSG00000047849 chr3:47872054-47872054;T/A missense_variant False MAP3K2@p.E104G 1 0.615384615 ENSG00000169967 chr2:127330459-127330459;T/C missense_variant False MAP3K4@p.D421H 1 0.111111111 ENSG00000085511 chr6:161049533-161049533;G/C missense_variant False MAP3K4@p.D281N 1 0.392405063 ENSG00000085511 chr6:161049113-161049113;G/A missense_variant False MAP3K4@p.A1004S 1 0.256578947 ENSG00000085511 chr6:161091415-161091415;G/T missense_variant False MAP3K3@p.E537K 1 0.123287671 ENSG00000198909 chr17:63692376-63692376;G/A missense_variant False MAP3K2@p.S331N 1 1.0 ENSG00000169967 chr2:127322099-127322099;C/T missense_variant False MAP3K2@p.E381Q 1 0.164179104 ENSG00000169967 chr2:127318222-127318222;C/G missense_variant False MAP3K21@p.P866L 1 0.617647059 ENSG00000143674 chr1:233379603-233379603;C/T missense_variant False MAP3K5@p.E291Q 1 0.666666667 ENSG00000197442 chr6:136697323-136697323;C/G missense_variant False MAP3K21@p.P612T 1 0.208333333 ENSG00000143674 chr1:233376437-233376437;C/A missense_variant False MAP3K21@p.L482V 1 0.157303371 ENSG00000143674 chr1:233362185-233362185;C/G missense_variant False MAP3K21@p.I316M 1 0.117647059 ENSG00000143674 chr1:233346584-233346584;C/G missense_variant False MAP3K21@p.E171K 1 0.428571429 ENSG00000143674 chr1:233328539-233328539;G/A missense_variant False MAP3K21@p.D602N 1 0.367346939 ENSG00000143674 chr1:233376044-233376044;G/A missense_variant False MAP3K20@p.R98G 1 0.155555556 ENSG00000091436 chr2:173182898-173182898;A/G missense_variant False MAP3K4@p.E1583Q 1 0.533333333 ENSG00000085511 chr6:161115243-161115243;G/C missense_variant False MAP3K4@p.E629K 1 0.142857143 ENSG00000085511 chr6:161070785-161070785;G/A missense_variant False MAP3K4@p.F282L 1 0.775862069 ENSG00000085511 chr6:161049118-161049118;C/A missense_variant False MAP3K4@p.G1346R 1 0.653846154 ENSG00000085511 chr6:161106693-161106693;G/A missense_variant False MAP3K4@p.G1366E 1 0.488888889 ENSG00000085511 chr6:161107947-161107947;G/A missense_variant False MAP3K4@p.H1580Y 1 0.44 ENSG00000085511 chr6:161115234-161115234;C/T missense_variant False MAP3K4@p.H340D 1 0.091836735 ENSG00000085511 chr6:161049290-161049290;C/G missense_variant False MAP3K4@p.L1336F 1 0.422018349 ENSG00000085511 chr6:161106665-161106665;G/C missense_variant False MAP3K4@p.L619F 1 0.085714286 ENSG00000085511 chr6:161070755-161070755;C/T missense_variant False MAP3K4@p.L646F 1 0.454545455 ENSG00000085511 chr6:161070838-161070838;G/C missense_variant False MAP3K4@p.L804H 1 0.46875 ENSG00000085511 chr6:161086417-161086417;T/A missense_variant False MAP3K4@p.Q100E 1 0.12 ENSG00000085511 chr6:161034404-161034404;C/G missense_variant False MAP3K4@p.Q1553E 1 0.229166667 ENSG00000085511 chr6:161115153-161115153;C/G missense_variant False MAP3K4@p.R741W 1 0.28 ENSG00000085511 chr6:161081004-161081004;C/T missense_variant False MAP3K5@p.D1233N 1 0.472222222 ENSG00000197442 chr6:136567695-136567695;C/T missense_variant False MAP3K5@p.D344H 1 0.365217391 ENSG00000197442 chr6:136696003-136696003;C/G missense_variant False MAP3K5@p.E1183K 1 0.431818182 ENSG00000197442 chr6:136567845-136567845;C/T missense_variant False MAP4@p.E1094K 1 0.352941176 ENSG00000047849 chr3:47853334-47853334;C/T missense_variant False MAP4@p.Q1141H 1 0.327586207 ENSG00000047849 chr3:47853191-47853191;C/G missense_variant False MAPK12@p.A175P 1 0.341463415 ENSG00000188130 chr22:50256181-50256181;C/G missense_variant False MAP7D1@p.E85Q 1 0.275 ENSG00000116871 chr1:36171177-36171177;G/C missense_variant False MAP7D3@p.D66G 1 0.19047619 ENSG00000129680 chrX:136246121-136246121;T/C missense_variant False MAP7D2@p.E337Q 1 0.067567568 ENSG00000184368 chrX:20025828-20025828;C/G missense_variant False MAP7D2@p.A244G 1 0.163934426 ENSG00000184368 chrX:20044389-20044389;G/C missense_variant False MAP7D1@p.P82L 1 0.416666667 ENSG00000116871 chr1:36171169-36171169;C/T missense_variant False MAP7D1@p.P792L 1 0.315789474 ENSG00000116871 chr1:36179927-36179927;C/T missense_variant False MAP7D1@p.M55I 1 0.08490566 ENSG00000116871 chr1:36171089-36171089;G/T missense_variant False MAP7D1@p.E822K 1 0.333333333 ENSG00000116871 chr1:36180016-36180016;G/A missense_variant False MAP6@p.Q727E 1 0.102661597 ENSG00000171533 chr11:75587322-75587322;G/C missense_variant False MAP7D1@p.E293Q 1 0.161764706 ENSG00000116871 chr1:36176225-36176225;G/C missense_variant False MAP7@p.S265C 1 0.113636364 ENSG00000135525 chr6:136372583-136372583;G/C missense_variant False MAP7@p.R84T 1 0.335227273 ENSG00000135525 chr6:136389511-136389511;C/G missense_variant False MAP7@p.P427L 1 0.129032258 ENSG00000135525 chr6:136362696-136362696;G/A missense_variant False MAP7@p.E604Q 1 0.256756757 ENSG00000135525 chr6:136360025-136360025;C/G missense_variant False MAP7@p.E498Q 1 0.241706161 ENSG00000135525 chr6:136362484-136362484;C/G missense_variant False MAP7D3@p.V406M 1 0.98989899 ENSG00000129680 chrX:136231741-136231741;C/T missense_variant False MAP9@p.A371T 1 0.127272727 ENSG00000164114 chr4:155357459-155357459;C/T missense_variant False MAP9@p.A427S 1 0.175438596 ENSG00000164114 chr4:155355727-155355727;C/A missense_variant False MAP9@p.E300V 1 0.275 ENSG00000164114 chr4:155360319-155360319;T/A missense_variant False MAP9@p.K316M 1 0.25 ENSG00000164114 chr4:155360271-155360271;T/A missense_variant False MAP9@p.L233V 1 0.390625 ENSG00000164114 chr4:155368597-155368597;G/C missense_variant False MAP9@p.Q250L 1 0.489583333 ENSG00000164114 chr4:155362101-155362101;T/A missense_variant False MAPK10@p.A267V 1 0.230769231 ENSG00000109339 chr4:86067844-86067844;G/A missense_variant False MAPK10@p.E344K 1 0.217391304 ENSG00000109339 chr4:86031398-86031398;C/T missense_variant False MAPK10@p.I356M 1 0.285714286 ENSG00000109339 chr4:86029267-86029267;G/C missense_variant False MAPK10@p.K203T 1 0.8 ENSG00000109339 chr4:86101060-86101060;T/G missense_variant False MAPK10@p.P244L 1 0.090909091 ENSG00000109339 chr4:86067913-86067913;G/A missense_variant False MAPK10@p.R59I 1 0.405405405 ENSG00000109339 chr4:86107299-86107299;C/A missense_variant False MAPK10@p.S144F 1 0.497005988 ENSG00000109339 chr4:86101913-86101913;G/A missense_variant False MAPK10@p.Y338C 1 0.264705882 ENSG00000109339 chr4:86031415-86031415;T/C missense_variant False MAPK11@p.M179I 1 0.164179104 ENSG00000185386 chr22:50267007-50267007;C/T missense_variant False MAPK11@p.Q128E 1 0.285714286 ENSG00000185386 chr22:50267406-50267406;G/C missense_variant False MAP7@p.D31N 1 0.347826087 ENSG00000135525 chr6:136421776-136421776;C/T missense_variant False MAP6@p.P575S 1 0.371257485 ENSG00000171533 chr11:75587778-75587778;G/A missense_variant False MAP4@p.R785dup 1 0.272727273 ENSG00000047849 chr3:47872067-47872068;-/CCG inframe_insertion False MAP4K1@p.Y103N 1 0.240963855 ENSG00000104814 chr19:38616201-38616201;A/T missense_variant False MAP4K3@p.E732K 1 0.229508197 ENSG00000011566 chr2:39260720-39260720;C/T missense_variant False MAP4K3@p.E186Q 1 0.360759494 ENSG00000011566 chr2:39326252-39326252;C/G missense_variant False MAP4K2@p.S703L 1 0.170731707 ENSG00000168067 chr11:64790447-64790447;G/A missense_variant False MAP4K2@p.R786Q 1 0.166666667 ENSG00000168067 chr11:64789748-64789748;C/T missense_variant False MAP4K2@p.I62T 1 0.388888889 ENSG00000168067 chr11:64802623-64802623;A/G missense_variant False MAP4K2@p.E747Q 1 0.132653061 ENSG00000168067 chr11:64790197-64790197;C/G missense_variant False MAP4K1@p.R350T 1 0.208333333 ENSG00000104814 chr19:38608128-38608128;C/G missense_variant False MAP6@p.F30S 1 0.184210526 ENSG00000171533 chr11:75668281-75668281;A/G missense_variant False MAP4K1@p.R337Q 1 0.282051282 ENSG00000104814 chr19:38608167-38608167;C/T missense_variant False MAP4K1@p.R169C 1 0.304347826 ENSG00000104814 chr19:38613908-38613908;G/A missense_variant False MAP4K1@p.K480N 1 0.363636364 ENSG00000104814 chr19:38605415-38605415;C/G missense_variant False MAP4K1@p.E409K 1 0.206896552 ENSG00000104814 chr19:38605706-38605706;C/T missense_variant False MAP4@p.S330L 1 0.394618834 ENSG00000047849 chr3:47916838-47916838;G/A missense_variant False MAP4@p.S1010F 1 0.115044248 ENSG00000047849 chr3:47867283-47867283;G/A missense_variant False MAP4K3@p.F725S 1 0.279411765 ENSG00000011566 chr2:39260740-39260740;A/G missense_variant False MAP4K3@p.I459M 1 0.373493976 ENSG00000011566 chr2:39288218-39288218;G/C missense_variant False MAP4K3@p.I666M 1 0.593548387 ENSG00000011566 chr2:39267223-39267223;G/C missense_variant False MAP4K3@p.N534K 1 0.347368421 ENSG00000011566 chr2:39282540-39282540;A/C missense_variant False MAP4K3@p.N611I 1 0.4 ENSG00000011566 chr2:39272505-39272505;T/A missense_variant False MAP4K3@p.R320K 1 0.585714286 ENSG00000011566 chr2:39315348-39315348;C/T missense_variant False MAP4K4@p.D1098N 1 0.472222222 ENSG00000071054 chr2:101887193-101887193;G/A missense_variant False MAP4K4@p.E1009K 1 0.051724138 ENSG00000071054 chr2:101882625-101882625;G/A missense_variant False MAP4K4@p.E1132Q 1 0.362318841 ENSG00000071054 chr2:101887835-101887835;G/C missense_variant False MAP4K4@p.L973F 1 0.373134328 ENSG00000071054 chr2:101877113-101877113;C/T missense_variant False MAP4K4@p.S367F 1 0.131578947 ENSG00000071054 chr2:101844178-101844178;C/T missense_variant False MAP4K5@p.K475N 1 0.461538462 ENSG00000012983 chr14:50443951-50443951;T/G missense_variant False MAP4K5@p.R471Q 1 0.466666667 ENSG00000012983 chr14:50443964-50443964;C/T missense_variant False MAP4K5@p.S445C 1 0.153846154 ENSG00000012983 chr14:50445046-50445046;G/C missense_variant False MAP4K5@p.T529P 1 0.5 ENSG00000012983 chr14:50440421-50440421;T/G missense_variant False MAP6@p.D761N 1 0.151515152 ENSG00000171533 chr11:75587220-75587220;C/T missense_variant False MAP6@p.E436K 1 0.29375 ENSG00000171533 chr11:75605818-75605818;C/T missense_variant False MAGI3@p.K521M 1 0.12745098 ENSG00000081026 chr1:113642112-113642112;A/T missense_variant False MAGI3@p.E230K 1 0.310344828 ENSG00000081026 chr1:113585521-113585521;G/A missense_variant False MARK1@p.R42W 1 0.303571429 ENSG00000116141 chr1:220579426-220579426;C/T missense_variant False LY6G5B@p.R177C 1 0.079754601 ENSG00000240053 chr6:31672205-31672205;C/T missense_variant False LY75@p.E1049G 1 0.072916667 ENSG00000054219 chr2:159849984-159849984;T/C missense_variant False LY75-CD302@p.S1840Y 1 0.333333333 ENSG00000248672 chr2:159771954-159771954;G/T missense_variant False LY75-CD302@p.K1775E 1 0.153846154 ENSG00000248672 chr2:159780074-159780074;T/C missense_variant False LY6G6F-LY6G6D@p.V31A 1 0.394366197 ENSG00000250641 chr6:31707497-31707497;T/C missense_variant False LY6G6F-LY6G6D@p.L347V 1 0.251612903 ENSG00000250641 chr6:31717694-31717694;C/G missense_variant False LY6G6F-LY6G6D@p.H315Y 1 0.584541063 ENSG00000250641 chr6:31717598-31717598;C/T missense_variant False LY6G5B@p.E154Q 1 0.126436782 ENSG00000240053 chr6:31672136-31672136;G/C missense_variant False LY75@p.E1649Q 1 0.465346535 ENSG00000054219 chr2:159807018-159807018;C/G missense_variant False LXN@p.M133I 1 0.318181818 ENSG00000079257 chr3:158669104-158669104;C/T missense_variant False LVRN@p.E854G 1 0.292682927 ENSG00000172901 chr5:116015362-116015362;A/G missense_variant False LVRN@p.D390H 1 0.445783133 ENSG00000172901 chr5:115992185-115992185;G/C missense_variant False LVRN@p.D286Y 1 0.214285714 ENSG00000172901 chr5:115984587-115984587;G/T missense_variant False LVRN@p.A309T 1 0.513513514 ENSG00000172901 chr5:115984656-115984656;G/A missense_variant False LUZP2@p.Q183H 1 0.212765957 ENSG00000187398 chr11:24976617-24976617;A/T missense_variant False LY75@p.E1130K 1 0.118181818 ENSG00000054219 chr2:159840848-159840848;C/T missense_variant False LY75@p.E590Q 1 0.08988764 ENSG00000054219 chr2:159878330-159878330;C/G missense_variant False LZTR1@p.G248R 1 0.285714286 ENSG00000099949 chr22:20990476-20990476;G/A missense_variant False LY75@p.Y446C 1 0.127659574 ENSG00000054219 chr2:159881150-159881150;T/C missense_variant False LY9@p.I445N 1 0.147540984 ENSG00000122224 chr1:160816855-160816855;T/A missense_variant False LY9@p.E493K 1 0.04595186 ENSG00000122224 chr1:160819353-160819353;G/A missense_variant False LY9@p.E409G 1 0.069767442 ENSG00000122224 chr1:160816747-160816747;A/G missense_variant False LY9@p.E184Q 1 0.113360324 ENSG00000122224 chr1:160813731-160813731;G/C missense_variant False LY9@p.D72N 1 0.113636364 ENSG00000122224 chr1:160799842-160799842;G/A missense_variant False LY96@p.S8Pfs*45 1 0.22826087 ENSG00000154589 chr8:73991458-73991458;T/- frameshift_variant False LY75@p.T1268P 1 0.240963855 ENSG00000054219 chr2:159834083-159834083;T/G missense_variant False LY75@p.E633Q 1 0.237410072 ENSG00000054219 chr2:159875521-159875521;C/G missense_variant False LY75@p.R876T 1 0.085365854 ENSG00000054219 chr2:159853666-159853666;C/G missense_variant False LY75@p.P1478Q 1 0.628571429 ENSG00000054219 chr2:159815521-159815521;G/T missense_variant False LY75@p.L125V 1 0.232142857 ENSG00000054219 chr2:159898781-159898781;G/C missense_variant False LY75@p.L1114V 1 0.133802817 ENSG00000054219 chr2:159840896-159840896;G/C missense_variant False LY75@p.F392L 1 0.111888112 ENSG00000054219 chr2:159882194-159882194;G/C missense_variant False LY75@p.F173I 1 0.73 ENSG00000054219 chr2:159894034-159894034;A/T missense_variant False LUZP2@p.P224H 1 0.5 ENSG00000187398 chr11:24983199-24983199;C/A missense_variant False LUZP2@p.L136F 1 0.098591549 ENSG00000187398 chr11:24906002-24906002;G/C missense_variant False LUZP2@p.E100K 1 0.233333333 ENSG00000187398 chr11:24738267-24738267;G/A missense_variant False LTV1@p.E264Q 1 0.666666667 ENSG00000135521 chr6:143858002-143858002;G/C missense_variant False LUC7L3@p.D63H 1 0.393939394 ENSG00000108848 chr17:50740326-50740326;G/C missense_variant False LUC7L2@p.R387C 1 0.221153846 ENSG00000269955 chr7:139422320-139422320;C/T missense_variant False LUC7L2@p.D208V 1 0.193333333 ENSG00000269955 chr7:139407286-139407286;A/T missense_variant False LUC7L2@p.D208N 1 0.196428571 ENSG00000269955 chr7:139407285-139407285;G/A missense_variant False LTV1@p.Y66C 1 0.127659574 ENSG00000135521 chr6:143846112-143846112;A/G missense_variant False LTV1@p.L40V 1 0.166666667 ENSG00000135521 chr6:143844600-143844600;C/G missense_variant False LTO1@p.G111E 1 0.465116279 ENSG00000149716 chr11:69667908-69667908;C/T missense_variant False LUZP2@p.D53E 1 0.5 ENSG00000187398 chr11:24729265-24729265;T/A missense_variant False LTN1@p.W712S 1 0.333333333 ENSG00000198862 chr21:28965893-28965893;C/G missense_variant False LTN1@p.W712C 1 0.333333333 ENSG00000198862 chr21:28965892-28965892;C/A missense_variant False LTN1@p.Q1339E 1 0.151898734 ENSG00000198862 chr21:28943872-28943872;G/C missense_variant False LTN1@p.L994V 1 0.565789474 ENSG00000198862 chr21:28956861-28956861;G/C missense_variant False LTN1@p.L715F 1 0.294117647 ENSG00000198862 chr21:28965885-28965885;G/A missense_variant False LTN1@p.K1372R 1 0.148351648 ENSG00000198862 chr21:28943772-28943772;T/C missense_variant False LUC7L3@p.E82Q 1 0.300699301 ENSG00000108848 chr17:50741139-50741139;G/C missense_variant False LUC7L3@p.Q399H 1 0.2 ENSG00000108848 chr17:50750559-50750559;G/C missense_variant False LUC7L@p.E102K 1 0.346666667 ENSG00000007392 chr16:208140-208140;C/T missense_variant False LUC7L@p.E83Q 1 0.380116959 ENSG00000007392 chr16:220657-220657;C/G missense_variant False LUC7L@p.R333G 1 0.609756098 ENSG00000007392 chr16:189317-189317;T/C missense_variant False LUM@p.E327Q 1 0.302325581 ENSG00000139329 chr12:91104203-91104203;C/G missense_variant False LUM@p.G15S 1 0.324324324 ENSG00000139329 chr12:91108937-91108937;C/T missense_variant False LURAP1@p.K22N 1 0.137931034 ENSG00000171357 chr1:46203492-46203492;G/C missense_variant False LURAP1L@p.E223K 1 0.58974359 ENSG00000153714 chr9:12821740-12821740;G/A missense_variant False LUZP1@p.D660N 1 0.329166667 ENSG00000169641 chr1:23092284-23092284;C/T missense_variant False LUZP1@p.E206Q 1 0.395833333 ENSG00000169641 chr1:23093646-23093646;C/G missense_variant False LUZP1@p.E268K 1 0.38372093 ENSG00000169641 chr1:23093460-23093460;C/T missense_variant False LUZP1@p.E625K 1 0.328125 ENSG00000169641 chr1:23092389-23092389;C/T missense_variant False LUZP1@p.R647Q 1 0.13253012 ENSG00000169641 chr1:23092322-23092322;C/T missense_variant False LUZP1@p.R654T 1 0.320158103 ENSG00000169641 chr1:23092301-23092301;C/G missense_variant False LUZP1@p.S460P 1 0.171755725 ENSG00000169641 chr1:23092884-23092884;A/G missense_variant False LUZP2@p.D23E 1 0.318181818 ENSG00000187398 chr11:24729175-24729175;C/A missense_variant False LY9@p.K5N 1 0.148148148 ENSG00000122224 chr1:160796202-160796202;G/C missense_variant False LYAR@p.E193K 1 0.208695652 ENSG00000145220 chr4:4274622-4274622;C/T missense_variant False LYG1@p.S120F 1 0.413793103 ENSG00000144214 chr2:99284795-99284795;G/A missense_variant False LYST@p.P1527A 1 0.294117647 ENSG00000143669 chr1:235788810-235788810;G/C missense_variant False LYST@p.S1742L 1 0.213114754 ENSG00000143669 chr1:235777298-235777298;G/A missense_variant False LYST@p.S1541L 1 0.34375 ENSG00000143669 chr1:235788767-235788767;G/A missense_variant False LYST@p.S1347C 1 0.443661972 ENSG00000143669 chr1:235793579-235793579;G/C missense_variant False LYST@p.R2102H 1 0.193181818 ENSG00000143669 chr1:235759548-235759548;C/T missense_variant False LYST@p.R1986Q 1 0.50174216 ENSG00000143669 chr1:235766243-235766243;C/T missense_variant False LYST@p.R156T 1 0.4375 ENSG00000143669 chr1:235810351-235810351;C/G missense_variant False LYST@p.N111Y 1 0.772727273 ENSG00000143669 chr1:235810487-235810487;T/A missense_variant False LYST@p.E3715Q 1 0.357142857 ENSG00000143669 chr1:235664517-235664517;C/G missense_variant False LYST@p.M2490I 1 0.227272727 ENSG00000143669 chr1:235752162-235752162;C/T missense_variant False LYST@p.L2752V 1 0.259259259 ENSG00000143669 chr1:235741526-235741526;A/C missense_variant False LYST@p.L1560V 1 0.225352113 ENSG00000143669 chr1:235788711-235788711;G/C missense_variant False LYST@p.I1152T 1 0.397590361 ENSG00000143669 chr1:235804604-235804604;A/G missense_variant False LYST@p.H3112D 1 0.189655172 ENSG00000143669 chr1:235720887-235720887;G/C missense_variant False LYST@p.G2123E 1 0.075471698 ENSG00000143669 chr1:235759485-235759485;C/T missense_variant False LYST@p.S3064T 1 0.071428571 ENSG00000143669 chr1:235724153-235724153;A/T missense_variant False LYST@p.S3793C 1 0.034285714 ENSG00000143669 chr1:235662968-235662968;G/C missense_variant False LYST@p.S494L 1 0.345679012 ENSG00000143669 chr1:235809337-235809337;G/A missense_variant False LYST@p.S507F 1 0.457142857 ENSG00000143669 chr1:235809298-235809298;G/A missense_variant False LYST@p.V778L 1 0.288135593 ENSG00000143669 chr1:235808486-235808486;C/A missense_variant False LYZ@p.P121S 1 0.046875 ENSG00000090382 chr12:69352279-69352279;C/T missense_variant False LYZ@p.R133H 1 0.376470588 ENSG00000090382 chr12:69353170-69353170;G/A missense_variant False LYZL1@p.E24K 1 0.214285714 ENSG00000120563 chr10:29289187-29289187;G/A missense_variant False LYZL1@p.V193I 1 0.384615385 ENSG00000120563 chr10:29311051-29311051;G/A missense_variant False LYZL2@p.G132E 1 0.113989637 ENSG00000151033 chr10:30626146-30626146;C/T missense_variant False LYZL2@p.M169I 1 0.25 ENSG00000151033 chr10:30612830-30612830;C/T missense_variant False LYZL6@p.E128Q 1 0.208333333 ENSG00000275722 chr17:35934861-35934861;C/G missense_variant False LYZL6@p.K87N 1 0.380434783 ENSG00000275722 chr17:35937795-35937795;C/G missense_variant False LYZL6@p.S90W 1 0.31496063 ENSG00000275722 chr17:35937787-35937787;G/C missense_variant False LZIC@p.D170H 1 0.285714286 ENSG00000162441 chr1:9931897-9931897;C/G missense_variant False LZTFL1@p.E162D 1 0.157894737 ENSG00000163818 chr3:45831109-45831109;C/G missense_variant False LZTFL1@p.K24N 1 0.179487179 ENSG00000163818 chr3:45837983-45837983;C/G missense_variant False LYST@p.E505Q 1 0.090909091 ENSG00000143669 chr1:235809305-235809305;C/G missense_variant False LYST@p.E2953K 1 0.379310345 ENSG00000143669 chr1:235731122-235731122;C/T missense_variant False LYG1@p.V85M 1 0.351648352 ENSG00000144214 chr2:99291317-99291317;C/T missense_variant False LYN@p.R244Q 1 0.205607477 ENSG00000254087 chr8:55953925-55953925;G/A missense_variant False LYPD4@p.S139C 1 0.173333333 ENSG00000273111 chr19:41838057-41838057;G/C missense_variant False LYPD4@p.I208M 1 0.296875 ENSG00000273111 chr19:41837260-41837260;G/C missense_variant False LYPD3@p.M12I 1 0.335078534 ENSG00000124466 chr19:43465536-43465536;C/T missense_variant False LYPD3@p.G93C 1 0.115384615 ENSG00000124466 chr19:43463704-43463704;C/A missense_variant False LYPD3@p.D174N 1 0.455284553 ENSG00000124466 chr19:43463150-43463150;C/T missense_variant False LYNX1-SLURP2@p.S119A 1 0.458823529 ENSG00000284505 chr8:142764646-142764646;A/C missense_variant False LYN@p.I364N 1 0.216666667 ENSG00000254087 chr8:55998386-55998386;T/A missense_variant False LYST@p.E2297K 1 0.130434783 ENSG00000143669 chr1:235757451-235757451;C/T missense_variant False LYN@p.I364L 1 0.213114754 ENSG00000254087 chr8:55998385-55998385;A/C missense_variant False LYN@p.D470H 1 0.114583333 ENSG00000254087 chr8:56009979-56009979;G/C missense_variant False LYG2@p.I84N 1 0.222222222 ENSG00000185674 chr2:99245392-99245392;A/T missense_variant False LYG2@p.F206L 1 0.357142857 ENSG00000185674 chr2:99242385-99242385;G/T missense_variant False LYG2@p.E71D 1 0.166666667 ENSG00000185674 chr2:99245430-99245430;C/G missense_variant False LYG2@p.E184Q 1 0.236363636 ENSG00000185674 chr2:99242453-99242453;C/G missense_variant False LYPD6@p.A23T 1 0.272727273 ENSG00000187123 chr2:149437775-149437775;G/A missense_variant False LYPD6@p.T74I 1 0.295238095 ENSG00000187123 chr2:149468648-149468648;C/T missense_variant False LYPLA1@p.S165Y 1 0.385964912 ENSG00000120992 chr8:54051157-54051157;G/T missense_variant False LYPLA2@p.E222K 1 0.114285714 ENSG00000011009 chr1:23794700-23794700;G/A missense_variant False LYPLA2@p.E97D 1 0.259259259 ENSG00000011009 chr1:23793926-23793926;G/C missense_variant False LYRM1@p.R49Q 1 0.23255814 ENSG00000102897 chr16:20915701-20915701;G/A missense_variant False LYRM4@p.D38H 1 0.105263158 ENSG00000214113 chr6:5216713-5216713;C/G missense_variant False LYSMD1@p.E127D 1 0.120481928 ENSG00000163155 chr1:151161900-151161900;C/G missense_variant False LYSMD1@p.G47E 1 0.518518519 ENSG00000163155 chr1:151165119-151165119;C/T missense_variant False LYSMD1@p.S155F 1 0.140186916 ENSG00000163155 chr1:151161817-151161817;G/A missense_variant False LYSMD2@p.D105Y 1 0.416666667 ENSG00000140280 chr15:51725082-51725082;C/A missense_variant False LYSMD2@p.D184H 1 0.265306122 ENSG00000140280 chr15:51724845-51724845;C/G missense_variant False LYSMD2@p.D184N 1 0.178571429 ENSG00000140280 chr15:51724845-51724845;C/T missense_variant False LYSMD3@p.S116F 1 0.318681319 ENSG00000176018 chr5:90519393-90519393;G/A missense_variant False LYSMD3@p.S156L 1 0.25 ENSG00000176018 chr5:90519273-90519273;G/A missense_variant False LYST@p.A218D 1 0.284810127 ENSG00000143669 chr1:235810165-235810165;G/T missense_variant False LYST@p.D2215N 1 0.327586207 ENSG00000143669 chr1:235759210-235759210;C/T missense_variant False LTN1@p.H897Y 1 0.131147541 ENSG00000198862 chr21:28958444-28958444;G/A missense_variant False LTN1@p.E561Q 1 0.65 ENSG00000198862 chr21:28966810-28966810;C/G missense_variant False LTN1@p.E551D 1 0.166666667 ENSG00000198862 chr21:28966838-28966838;C/G missense_variant False LSG1@p.E574K 1 0.490909091 ENSG00000041802 chr3:194644650-194644650;C/T missense_variant False LSM10@p.L69P 1 0.134328358 ENSG00000181817 chr1:36393924-36393924;A/G missense_variant False LSG1@p.R553K 1 0.177777778 ENSG00000041802 chr3:194644712-194644712;C/T missense_variant False LSG1@p.R465T 1 0.53968254 ENSG00000041802 chr3:194650906-194650906;C/G missense_variant False LSG1@p.R28G 1 0.327272727 ENSG00000041802 chr3:194672081-194672081;G/C missense_variant False LSG1@p.R25Q 1 0.361445783 ENSG00000041802 chr3:194672089-194672089;C/T missense_variant False LSG1@p.G70E 1 0.266666667 ENSG00000041802 chr3:194670026-194670026;C/T missense_variant False LSAMP@p.E265Q 1 0.104477612 ENSG00000185565 chr3:115841971-115841971;C/G missense_variant False LRTM2@p.K341N 1 0.313953488 ENSG00000166159 chr12:1834631-1834631;G/T missense_variant False LSAMP@p.D57Y 1 0.605263158 ENSG00000185565 chr3:116086543-116086543;C/A missense_variant False LSAMP@p.A293T 1 0.161764706 ENSG00000185565 chr3:115841887-115841887;C/T missense_variant False LRWD1@p.D53N 1 0.357142857 ENSG00000161036 chr7:102465893-102465893;G/A missense_variant False LRWD1@p.D108N 1 0.095652174 ENSG00000161036 chr7:102466160-102466160;G/A missense_variant False LRTM2@p.S367C 1 0.228571429 ENSG00000166159 chr12:1834708-1834708;C/G missense_variant False LRTM2@p.S139L 1 0.270588235 ENSG00000166159 chr12:1831283-1831283;C/T missense_variant False LSM11@p.E165K 1 0.170731707 ENSG00000155858 chr5:157751434-157751434;G/A missense_variant False LSM12@p.S110F 1 0.242424242 ENSG00000161654 chr17:44040186-44040186;G/A missense_variant False LSM14A@p.L38F 1 0.06 ENSG00000257103 chr19:34172754-34172754;C/T missense_variant False LSM14A@p.M290I 1 0.098039216 ENSG00000257103 chr19:34219479-34219479;G/A missense_variant False LSM14A@p.P356A 1 0.378378378 ENSG00000257103 chr19:34219807-34219807;C/G missense_variant False LSM14A@p.P54S 1 0.417218543 ENSG00000257103 chr19:34194516-34194516;C/T missense_variant False LSM14B@p.E338Q 1 0.416666667 ENSG00000149657 chr20:62133315-62133315;G/C missense_variant False LSM14B@p.K13N 1 0.396226415 ENSG00000149657 chr20:62122705-62122705;G/C missense_variant False LSM14B@p.P8L 1 0.157894737 ENSG00000149657 chr20:62122689-62122689;C/T missense_variant False LSM14B@p.S165F 1 0.4 ENSG00000149657 chr20:62129851-62129851;C/T missense_variant False LSM14B@p.S324F 1 0.078431373 ENSG00000149657 chr20:62131491-62131491;C/T missense_variant False LSM2@p.K20Q 1 0.615384615 ENSG00000204392 chr6:31806088-31806088;T/G missense_variant False LSM2@p.S31F 1 0.32967033 ENSG00000204392 chr6:31798487-31798487;G/A missense_variant False LSM3@p.E38K 1 0.169230769 ENSG00000170860 chr3:14181650-14181650;G/A missense_variant False LSMEM2@p.E15Q 1 0.277777778 ENSG00000179564 chr3:50279156-50279156;G/C missense_variant False LSP1@p.K216N 1 0.225806452 ENSG00000130592 chr11:1884512-1884512;G/C missense_variant False LSP1@p.P339S 1 0.1875 ENSG00000130592 chr11:1887558-1887558;C/T missense_variant False LRTM2@p.R129S 1 0.170940171 ENSG00000166159 chr12:1831254-1831254;G/C missense_variant False LRTM1@p.L273F 1 0.306451613 ENSG00000144771 chr3:54918680-54918680;G/A missense_variant False LSR@p.E411Q 1 0.34375 ENSG00000105699 chr19:35266910-35266910;G/C missense_variant False LRRTM1@p.A312P 1 0.315789474 ENSG00000162951 chr2:80302886-80302886;C/G missense_variant False LRRTM1@p.S145L 1 0.380952381 ENSG00000162951 chr2:80303386-80303386;G/A missense_variant False LRRTM1@p.R73H 1 0.291208791 ENSG00000162951 chr2:80303602-80303602;C/T missense_variant False LRRTM1@p.M483L 1 0.260869565 ENSG00000162951 chr2:80302373-80302373;T/A missense_variant False LRRTM1@p.L128R 1 0.2625 ENSG00000162951 chr2:80303437-80303437;A/C missense_variant False LRRTM1@p.A422T 1 0.267857143 ENSG00000162951 chr2:80302556-80302556;C/T missense_variant False LRRTM1@p.A343V 1 0.380952381 ENSG00000162951 chr2:80302792-80302792;G/A missense_variant False LRRN4CL@p.E173K 1 0.620689655 ENSG00000177363 chr11:62687992-62687992;C/T missense_variant False LRSAM1@p.V111M 1 0.416666667 ENSG00000148356 chr9:127461182-127461182;G/A missense_variant False LRRN4@p.S489L 1 0.325203252 ENSG00000125872 chr20:6041779-6041779;G/A missense_variant False LRRN4@p.Q261E 1 0.057471264 ENSG00000125872 chr20:6050858-6050858;G/C missense_variant False LRRN4@p.I471M 1 0.18627451 ENSG00000125872 chr20:6041832-6041832;G/C missense_variant False LRRN4@p.H608Y 1 0.176470588 ENSG00000125872 chr20:6041423-6041423;G/A missense_variant False LRRN3@p.S550C 1 0.178571429 ENSG00000173114 chr7:111124421-111124421;C/G missense_variant False LRRN3@p.S536L 1 0.280701754 ENSG00000173114 chr7:111124379-111124379;C/T missense_variant False LRRTM1@p.T392I 1 0.186046512 ENSG00000162951 chr2:80302645-80302645;G/A missense_variant False LRRTM2@p.D285N 1 0.170886076 ENSG00000146006 chr5:138873708-138873708;C/T missense_variant False LRRTM2@p.R208K 1 0.890052356 ENSG00000146006 chr5:138873938-138873938;C/T missense_variant False LRRTM2@p.T261A 1 0.050458716 ENSG00000146006 chr5:138873780-138873780;T/C missense_variant False LRRTM3@p.D306G 1 0.44295302 ENSG00000198739 chr10:66927833-66927833;A/G missense_variant False LRRTM3@p.G11E 1 0.32 ENSG00000198739 chr10:66926948-66926948;G/A missense_variant False LRRTM3@p.I244K 1 0.231578947 ENSG00000198739 chr10:66927647-66927647;T/A missense_variant False LRRTM3@p.R227T 1 0.164473684 ENSG00000198739 chr10:66927596-66927596;G/C missense_variant False LRRTM3@p.R459Q 1 0.216216216 ENSG00000198739 chr10:66928292-66928292;G/A missense_variant False LRRTM3@p.S544Y 1 0.277777778 ENSG00000198739 chr10:67097681-67097681;C/A missense_variant False LRRTM3@p.Y445H 1 0.24691358 ENSG00000198739 chr10:66928249-66928249;T/C missense_variant False LRRTM4@p.E369D 1 0.4375 ENSG00000176204 chr2:77518762-77518762;T/A missense_variant False LRRTM4@p.G267E 1 0.375 ENSG00000176204 chr2:77519069-77519069;C/T missense_variant False LRRTM4@p.L164F 1 0.095238095 ENSG00000176204 chr2:77519377-77519377;C/G missense_variant False LRRTM4@p.T388A 1 0.107142857 ENSG00000176204 chr2:77518707-77518707;T/C missense_variant False LRRTM4@p.V374L 1 0.379310345 ENSG00000176204 chr2:77518749-77518749;C/A missense_variant False LRSAM1@p.P45A 1 0.326315789 ENSG00000148356 chr9:127455579-127455579;C/G missense_variant False LSR@p.D536N 1 0.225 ENSG00000105699 chr19:35267426-35267426;G/A missense_variant False LSR@p.R445W 1 0.234693878 ENSG00000105699 chr19:35267153-35267153;C/T missense_variant False LTN1@p.E477K 1 0.104265403 ENSG00000198862 chr21:28967062-28967062;C/T missense_variant False LTBP3@p.Q86H 1 0.068181818 ENSG00000168056 chr11:65557702-65557702;C/G missense_variant False LTBP4@p.R1335C 1 0.136363636 ENSG00000090006 chr19:40624052-40624052;C/T missense_variant False LTBP4@p.P173L 1 0.212121212 ENSG00000090006 chr19:40605101-40605101;C/T missense_variant False LTBP4@p.G559E 1 0.96969697 ENSG00000090006 chr19:40609578-40609578;G/A missense_variant False LTBP4@p.E881K 1 0.631578947 ENSG00000090006 chr19:40613412-40613412;G/A missense_variant False LTBP4@p.E1580K 1 0.138211382 ENSG00000090006 chr19:40629413-40629413;G/A missense_variant False LTBP4@p.C978Y 1 0.375 ENSG00000090006 chr19:40614366-40614366;G/A missense_variant False LTBP3@p.E663K 1 0.468253968 ENSG00000168056 chr11:65547559-65547559;C/T missense_variant False LTBP2@p.A154V 1 0.1 ENSG00000119681 chr14:74611484-74611484;G/A missense_variant False LTBP3@p.E521D 1 0.235294118 ENSG00000168056 chr11:65551460-65551460;C/G missense_variant False LTBP3@p.E301K 1 0.357142857 ENSG00000168056 chr11:65553494-65553494;C/T missense_variant False LTBP3@p.A339T 1 0.325203252 ENSG00000168056 chr11:65553212-65553212;C/T missense_variant False LTBP2@p.V40I 1 0.212121212 ENSG00000119681 chr14:74611827-74611827;C/T missense_variant False LTBP2@p.P1626L 1 0.208333333 ENSG00000119681 chr14:74503230-74503230;G/A missense_variant False LTBP2@p.L1287V 1 0.112676056 ENSG00000119681 chr14:74507227-74507227;G/C missense_variant False LTBP4@p.R1365G 1 0.4 ENSG00000090006 chr19:40625916-40625916;C/G missense_variant False LTBP4@p.R684Q 1 0.127659574 ENSG00000090006 chr19:40611191-40611191;G/A missense_variant False LTBP4@p.R72S 1 0.107142857 ENSG00000090006 chr19:40599431-40599431;G/T missense_variant False LTBP4@p.S284L 1 0.333333333 ENSG00000090006 chr19:40605612-40605612;C/T missense_variant False LTBR@p.E49Gfs*4 1 0.365384615 ENSG00000111321 chr12:6384630-6384631;-/A frameshift_variant False LTF@p.A588T 1 0.179104478 ENSG00000012223 chr3:46439442-46439442;C/T missense_variant False LTF@p.E530V 1 0.064705882 ENSG00000012223 chr3:46443507-46443507;T/A missense_variant False LTF@p.E85K 1 0.243055556 ENSG00000012223 chr3:46456353-46456353;C/T missense_variant False LTF@p.L289F 1 0.257142857 ENSG00000012223 chr3:46450512-46450512;G/A missense_variant False LTF@p.M45I 1 0.088888889 ENSG00000012223 chr3:46459728-46459728;C/T missense_variant False LTF@p.V4I 1 0.413793103 ENSG00000012223 chr3:46464858-46464858;C/T missense_variant False LTF@p.Y544C 1 0.25106383 ENSG00000012223 chr3:46443465-46443465;T/C missense_variant False LTK@p.E65Q 1 0.068965517 ENSG00000062524 chr15:41512873-41512873;C/G missense_variant False LTK@p.E800Q 1 0.294117647 ENSG00000062524 chr15:41504193-41504193;C/G missense_variant False LTN1@p.D825H 1 0.19047619 ENSG00000198862 chr21:28959578-28959578;C/G missense_variant False LTN1@p.D825Y 1 0.134228188 ENSG00000198862 chr21:28959578-28959578;C/A missense_variant False LTN1@p.D951N 1 0.173913043 ENSG00000198862 chr21:28957373-28957373;C/T missense_variant False LTBP2@p.D435H 1 0.078125 ENSG00000119681 chr14:74552283-74552283;C/G missense_variant False LTBP1@p.T651I 1 0.168831169 ENSG00000049323 chr2:33243737-33243737;C/T missense_variant False LSR@p.S444F 1 0.23 ENSG00000105699 chr19:35267151-35267151;C/T missense_variant False LTA4H@p.D482H 1 0.176470588 ENSG00000111144 chr12:96006400-96006400;C/G missense_variant False LTB4R2@p.E357Q 1 0.2375 ENSG00000213906 chr14:24311640-24311640;G/C missense_variant False LTB4R2@p.D196N 1 0.304347826 ENSG00000213906 chr14:24311157-24311157;G/A missense_variant False LTA@p.D84N 1 0.357142857 ENSG00000226979 chr6:31573325-31573325;G/A missense_variant False LTA4H@p.S299F 1 0.15037594 ENSG00000111144 chr12:96017095-96017095;G/A missense_variant False LTA4H@p.H582R 1 0.161290323 ENSG00000111144 chr12:96001080-96001080;T/C missense_variant False LTA4H@p.F415C 1 0.354166667 ENSG00000111144 chr12:96013814-96013814;A/C missense_variant False LST1@p.T87N 1 0.346153846 ENSG00000204482 chr6:31588621-31588621;C/A missense_variant False LTBP1@p.T537A 1 0.090909091 ENSG00000049323 chr2:33188759-33188759;A/G missense_variant False LST1@p.E42D 1 0.142857143 ENSG00000204482 chr6:31587957-31587957;G/C missense_variant False LSS@p.T356I 1 0.142857143 ENSG00000160285 chr21:46213780-46213780;G/A missense_variant False LSS@p.M657I 1 0.097560976 ENSG00000160285 chr21:46194508-46194508;C/T missense_variant False LSS@p.E725K 1 0.140350877 ENSG00000160285 chr21:46191130-46191130;C/T missense_variant False LSS@p.E679D 1 0.384615385 ENSG00000160285 chr21:46191911-46191911;C/G missense_variant False LSS@p.D485N 1 0.322580645 ENSG00000160285 chr21:46207442-46207442;C/T missense_variant False LTB4R2@p.R162W 1 0.5 ENSG00000213906 chr14:24311055-24311055;C/T missense_variant False LTB4R2@p.V317Gfs*36 1 0.264705882 ENSG00000213906 chr14:24311515-24311516;-/C frameshift_variant False LTB4R@p.L92R 1 0.403508772 ENSG00000213903 chr14:24315926-24315926;T/G missense_variant False LTB@p.E180Q 1 0.263157895 ENSG00000227507 chr6:31580906-31580906;C/G missense_variant False LTB@p.E57Q 1 0.053191489 ENSG00000227507 chr6:31581853-31581853;C/G missense_variant False LTB@p.S18F 1 0.277777778 ENSG00000227507 chr6:31582365-31582365;G/A missense_variant False LTBP1@p.C370S 1 0.227848101 ENSG00000049323 chr2:33134868-33134868;G/C missense_variant False LTBP1@p.D1611H 1 0.085106383 ENSG00000049323 chr2:33389303-33389303;G/C missense_variant False LTBP1@p.D504N 1 0.336538462 ENSG00000049323 chr2:33188660-33188660;G/A missense_variant False LTBP1@p.E1486K 1 0.396825397 ENSG00000049323 chr2:33364272-33364272;G/A missense_variant False LTBP1@p.H1076Y 1 0.383333333 ENSG00000049323 chr2:33293273-33293273;C/T missense_variant False LTBP1@p.L292V 1 0.342857143 ENSG00000049323 chr2:33110592-33110592;C/G missense_variant False LTBP1@p.N1513D 1 0.6 ENSG00000049323 chr2:33364353-33364353;A/G missense_variant False LTBP1@p.N167T 1 0.2 ENSG00000049323 chr2:32948880-32948880;A/C missense_variant False LTBP1@p.P126L 1 0.333333333 ENSG00000049323 chr2:32947701-32947701;C/T missense_variant False LTBP1@p.Q1276E 1 0.222222222 ENSG00000049323 chr2:33342933-33342933;C/G missense_variant False LTBP1@p.S325F 1 0.226804124 ENSG00000049323 chr2:33110692-33110692;C/T missense_variant False LZTR1@p.G160D 1 0.433962264 ENSG00000099949 chr22:20988088-20988088;G/A missense_variant False LZTR1@p.P115L 1 0.125 ENSG00000099949 chr22:20987527-20987527;C/T missense_variant False MAGI3@p.E154Q 1 0.134615385 ENSG00000081026 chr1:113580568-113580568;G/C missense_variant False MAGEB16@p.T189I 1 0.10989011 ENSG00000189023 chrX:35802762-35802762;C/T missense_variant False MAGEB1@p.S336C 1 0.612244898 ENSG00000214107 chrX:30251500-30251500;C/G missense_variant False MAGEB1@p.E287Q 1 0.13559322 ENSG00000214107 chrX:30251352-30251352;G/C missense_variant False MAGEB18@p.R331C 1 0.615384615 ENSG00000176774 chrX:26139976-26139976;C/T missense_variant False MAGEB18@p.L307F 1 0.222222222 ENSG00000176774 chrX:26139906-26139906;G/C missense_variant False MAGEB18@p.G4C 1 0.260869565 ENSG00000176774 chrX:26138995-26138995;G/T missense_variant False MAGEB18@p.A298S 1 1.0 ENSG00000176774 chrX:26139877-26139877;G/T missense_variant False MAGEB16@p.R247K 1 0.388888889 ENSG00000189023 chrX:35802936-35802936;G/A missense_variant False MAGEB1@p.Y268C 1 0.197802198 ENSG00000214107 chrX:30251296-30251296;A/G missense_variant False MAGEB16@p.E82K 1 0.892857143 ENSG00000189023 chrX:35802440-35802440;G/A missense_variant False MAGEB10@p.T201A 1 0.25 ENSG00000177689 chrX:27821907-27821907;A/G missense_variant False MAGEB10@p.R19L 1 0.103448276 ENSG00000177689 chrX:27821362-27821362;G/T missense_variant False MAGEB10@p.E66K 1 0.484848485 ENSG00000177689 chrX:27821502-27821502;G/A missense_variant False MAGEB10@p.E23K 1 0.476190476 ENSG00000177689 chrX:27821373-27821373;G/A missense_variant False MAGEA8@p.D84V 1 0.108108108 ENSG00000156009 chrX:149884523-149884523;A/T missense_variant False MAGEB1@p.V104F 1 0.8 ENSG00000214107 chrX:30250803-30250803;G/T missense_variant False MAGEB2@p.A156G 1 1.0 ENSG00000099399 chrX:30219047-30219047;C/G missense_variant False LZTR1@p.P279A 1 0.272727273 ENSG00000099949 chr22:20991671-20991671;C/G missense_variant False MAGEB6B@p.P136S 1 0.534246575 ENSG00000232030 chrX:26161006-26161006;C/T missense_variant False MAGEC1@p.F451S 1 0.111111111 ENSG00000155495 chrX:141906756-141906756;T/C missense_variant False MAGEC1@p.E877K 1 0.414414414 ENSG00000155495 chrX:141908033-141908033;G/A missense_variant False MAGEC1@p.E680K 1 0.304123711 ENSG00000155495 chrX:141907442-141907442;G/A missense_variant False MAGEC1@p.D981H 1 0.534653465 ENSG00000155495 chrX:141908345-141908345;G/C missense_variant False MAGEB6B@p.V372A 1 0.259259259 ENSG00000232030 chrX:26161715-26161715;T/C missense_variant False MAGEB6B@p.P353S 1 0.217821782 ENSG00000232030 chrX:26161657-26161657;C/T missense_variant False MAGEB6B@p.G76C 1 0.632352941 ENSG00000232030 chrX:26160826-26160826;G/T missense_variant False MAGEB4@p.L195Ffs*7 1 0.189873418 ENSG00000120289 chrX:30242716-30242716;C/- frameshift_variant False MAGEB6B@p.E33Q 1 0.245283019 ENSG00000232030 chrX:26160697-26160697;G/C missense_variant False MAGEB6@p.T26M 1 0.450980392 ENSG00000176746 chrX:26193923-26193923;C/T missense_variant False MAGEB6@p.I396K 1 0.669902913 ENSG00000176746 chrX:26195033-26195033;T/A missense_variant False MAGEB6@p.G172V 1 0.137931034 ENSG00000176746 chrX:26194361-26194361;G/T missense_variant False MAGEB6@p.E171K 1 0.242424242 ENSG00000176746 chrX:26194357-26194357;G/A missense_variant False MAGEB4@p.T131K 1 0.5625 ENSG00000120289 chrX:30242527-30242527;C/A missense_variant False MAGEA6@p.P262R 1 0.403726708 ENSG00000221867 chrX:152766866-152766866;G/C missense_variant False MAGEA6@p.G137W 1 0.145454545 ENSG00000221867 chrX:152767242-152767242;C/A missense_variant False MAGEA6@p.E314Q 1 0.413173653 ENSG00000221867 chrX:152766711-152766711;C/G missense_variant False MAF@p.E104K 1 0.142857143 ENSG00000178573 chr16:79599593-79599593;C/T missense_variant False MAFK@p.V121M 1 0.3 ENSG00000198517 chr7:1540265-1540265;G/A missense_variant False MAFB@p.T47A 1 0.243243243 ENSG00000204103 chr20:40688712-40688712;T/C missense_variant False MAFB@p.S304F 1 0.143939394 ENSG00000204103 chr20:40687940-40687940;G/A missense_variant False MAFB@p.N248K 1 0.12195122 ENSG00000204103 chr20:40688107-40688107;G/C missense_variant False MAFB@p.G203C 1 0.615384615 ENSG00000204103 chr20:40688244-40688244;C/A missense_variant False MAF@p.N298T 1 0.085106383 ENSG00000178573 chr16:79599010-79599010;T/G missense_variant False MAF1@p.L135M 1 0.645833333 ENSG00000179632 chr8:144106367-144106367;C/A missense_variant False MAGEA6@p.E232Q 1 0.266666667 ENSG00000221867 chrX:152766957-152766957;C/G missense_variant False MAF1@p.E162K 1 0.134328358 ENSG00000179632 chr8:144106448-144106448;G/A missense_variant False MAEL@p.W265Gfs*6 1 0.363636364 ENSG00000143194 chr1:167005344-167005344;T/- frameshift_variant False MAEL@p.N412K 1 0.484375 ENSG00000143194 chr1:167021786-167021786;C/G missense_variant False MAEL@p.L310V 1 0.302816901 ENSG00000143194 chr1:167017846-167017846;C/G missense_variant False MAEL@p.E246Q 1 0.130434783 ENSG00000143194 chr1:167005288-167005288;G/C missense_variant False MAEA@p.P246R 1 0.230769231 ENSG00000090316 chr4:1332837-1332837;C/G missense_variant False MAG@p.E372K 1 0.163043478 ENSG00000105695 chr19:35302591-35302591;G/A missense_variant False MAG@p.G505E 1 0.27027027 ENSG00000105695 chr19:35310156-35310156;G/A missense_variant False MAG@p.R508Q 1 0.333333333 ENSG00000105695 chr19:35310550-35310550;G/A missense_variant False MAG@p.S63N 1 0.375 ENSG00000105695 chr19:35295754-35295754;G/A missense_variant False MAGEA10@p.G288S 1 0.642857143 ENSG00000124260 chrX:152134759-152134759;C/T missense_variant False MAGEA10@p.Q85H 1 0.636363636 ENSG00000124260 chrX:152135366-152135366;C/G missense_variant False MAGEA11@p.E144K 1 0.282051282 ENSG00000185247 chrX:149715916-149715916;G/A missense_variant False MAGEA11@p.E144Q 1 0.125 ENSG00000185247 chrX:149715916-149715916;G/C missense_variant False MAGEA12@p.K292R 1 0.200968523 ENSG00000213401 chrX:152737036-152737036;A/G missense_variant False MAGEA12@p.L250F 1 0.232394366 ENSG00000213401 chrX:152736911-152736911;G/C missense_variant False MAGEA12@p.R51Q 1 0.849056604 ENSG00000213401 chrX:152736313-152736313;G/A missense_variant False MAGEA12@p.S69F 1 0.05 ENSG00000213401 chrX:152736367-152736367;C/T missense_variant False MAGEA1@p.F70V 1 0.137681159 ENSG00000198681 chrX:153182597-153182597;T/G missense_variant False MAGEA3@p.E17Q 1 0.117647059 ENSG00000221867 chrX:152700881-152700881;G/C missense_variant False MAGEA3@p.E313V 1 0.685393258 ENSG00000221867 chrX:152701770-152701770;A/T missense_variant False MAGEA3@p.I150M 1 0.325757576 ENSG00000221867 chrX:152701282-152701282;C/G missense_variant False MAGEA4@p.E34K 1 0.274193548 ENSG00000147381 chrX:151923764-151923764;G/A missense_variant False MAGEC1@p.I1006T 1 0.333333333 ENSG00000155495 chrX:141908421-141908421;T/C missense_variant False MAGEC1@p.K844N 1 0.075949367 ENSG00000155495 chrX:141907936-141907936;G/C missense_variant False MAGEC1@p.L903F 1 0.366935484 ENSG00000155495 chrX:141908113-141908113;G/T missense_variant False MAGI1@p.I498M 1 0.532051282 ENSG00000151276 chr3:65430751-65430751;G/C missense_variant False MAGI1@p.R1295Q 1 0.12244898 ENSG00000151276 chr3:65356883-65356883;C/T missense_variant False MAGI1@p.R1060S 1 0.293577982 ENSG00000151276 chr3:65375763-65375763;G/T missense_variant False MAGI1@p.P789T 1 0.227848101 ENSG00000151276 chr3:65391193-65391193;G/T missense_variant False MAGI1@p.N1040K 1 0.147058824 ENSG00000151276 chr3:65375821-65375821;G/T missense_variant False MAGI1@p.L552F 1 0.406779661 ENSG00000151276 chr3:65430033-65430033;G/A missense_variant False MAGI1@p.K885R 1 0.4375 ENSG00000151276 chr3:65381924-65381924;T/C missense_variant False MAGI1@p.I1030N 1 0.387096774 ENSG00000151276 chr3:65375852-65375852;A/T missense_variant False MAGEH1@p.F162C 1 0.939393939 ENSG00000187601 chrX:55452859-55452859;T/G missense_variant False MAGI1@p.E51K 1 0.313131313 ENSG00000151276 chr3:66038158-66038158;C/T missense_variant False MAGI1@p.E239K 1 0.204225352 ENSG00000151276 chr3:65478634-65478634;C/T missense_variant False MAGI1@p.E1379K 1 0.289156627 ENSG00000151276 chr3:65356632-65356632;C/T missense_variant False MAGEL2@p.R1249G 1 0.307692308 ENSG00000254585 chr15:23643998-23643998;G/C missense_variant False MAGEL2@p.R1187Q 1 0.319444444 ENSG00000254585 chr15:23644183-23644183;C/T missense_variant False MAGEL2@p.Q644L 1 0.333333333 ENSG00000254585 chr15:23645812-23645812;T/A missense_variant False MAGI1@p.R929H 1 0.120567376 ENSG00000151276 chr3:65379470-65379470;C/T missense_variant False MAGI1@p.S327C 1 0.394366197 ENSG00000151276 chr3:65453320-65453320;G/C missense_variant False MAGI2@p.A1324T 1 0.555555556 ENSG00000187391 chr7:78019713-78019713;C/T missense_variant False MAGI2@p.G835S 1 0.494318182 ENSG00000187391 chr7:78168009-78168009;C/T missense_variant False MAGI2@p.H1125Q 1 0.47761194 ENSG00000187391 chr7:78127245-78127245;G/C missense_variant False MAGI2@p.H16Y 1 0.163636364 ENSG00000187391 chr7:79453275-79453275;G/A missense_variant False MAGI2@p.I321T 1 0.204545455 ENSG00000187391 chr7:78501580-78501580;A/G missense_variant False MAGI2@p.M164I 1 0.094594595 ENSG00000187391 chr7:78627166-78627166;C/T missense_variant False MAGI2@p.Q1024H 1 0.087431694 ENSG00000187391 chr7:78133020-78133020;C/G missense_variant False MAGI2@p.Q635E 1 0.428571429 ENSG00000187391 chr7:78256087-78256087;G/C missense_variant False MAGI2@p.R681P 1 0.106382979 ENSG00000187391 chr7:78255948-78255948;C/G missense_variant False MAGI2@p.R850H 1 0.361702128 ENSG00000187391 chr7:78167963-78167963;C/T missense_variant False MAGI2@p.T1147A 1 0.333333333 ENSG00000187391 chr7:78125822-78125822;T/C missense_variant False MAGI2@p.V662I 1 0.307692308 ENSG00000187391 chr7:78256006-78256006;C/T missense_variant False MAGI3@p.D764H 1 0.392857143 ENSG00000081026 chr1:113651056-113651056;G/C missense_variant False MAGI3@p.D917H 1 0.165217391 ENSG00000081026 chr1:113659199-113659199;G/C missense_variant False MAGI3@p.E1305K 1 0.064516129 ENSG00000081026 chr1:113683481-113683481;G/A missense_variant False MAGEL2@p.E923D 1 0.080645161 ENSG00000254585 chr15:23644974-23644974;C/G missense_variant False MAGEF1@p.A66Qfs*9 1 0.388888889 ENSG00000177383 chr3:184711620-184711626;CCAAGGC/- frameshift_variant False MAGEC1@p.L920F 1 0.207650273 ENSG00000155495 chrX:141908162-141908162;C/T missense_variant False MAGEC1@p.S742C 1 0.777777778 ENSG00000155495 chrX:141907628-141907628;A/T missense_variant False MAGEC3@p.F226S 1 0.473333333 ENSG00000165509 chrX:141881564-141881564;T/C missense_variant False MAGEC3@p.E526K 1 0.341463415 ENSG00000165509 chrX:141897334-141897334;G/A missense_variant False MAGEC2@p.S372F 1 0.651515152 ENSG00000046774 chrX:142202873-142202873;G/A missense_variant False MAGEC2@p.K183N 1 0.603092784 ENSG00000046774 chrX:142203439-142203439;C/G missense_variant False MAGEC2@p.E251K 1 0.31372549 ENSG00000046774 chrX:142203237-142203237;C/T missense_variant False MAGEC1@p.W1048L 1 0.240875912 ENSG00000155495 chrX:141908547-141908547;G/T missense_variant False MAGEC1@p.S576F 1 0.052840159 ENSG00000155495 chrX:141907131-141907131;C/T missense_variant False MAGEE2@p.G468C 1 0.342465753 ENSG00000186675 chrX:75783650-75783650;C/A missense_variant False MAGEC1@p.S560C 1 0.201550388 ENSG00000155495 chrX:141907083-141907083;C/G missense_variant False MAGEC1@p.S461R 1 0.103174603 ENSG00000155495 chrX:141906787-141906787;T/G missense_variant False MAGEC1@p.S357Y 1 0.942307692 ENSG00000155495 chrX:141906474-141906474;C/A missense_variant False MAGEC1@p.S357Ffs*30 1 0.266666667 ENSG00000155495 chrX:141906474-141906474;C/- frameshift_variant False MAGEC1@p.Q16H 1 0.484210526 ENSG00000155495 chrX:141905452-141905452;G/C missense_variant False MAGEC1@p.P691S 1 0.25 ENSG00000155495 chrX:141907475-141907475;C/T missense_variant False MAGEC3@p.G220D 1 0.550458716 ENSG00000165509 chrX:141881546-141881546;G/A missense_variant False MAGEC3@p.Q349E 1 0.967741935 ENSG00000165509 chrX:141895404-141895404;C/G missense_variant False MAGEC3@p.S522F 1 0.093333333 ENSG00000165509 chrX:141897323-141897323;C/T missense_variant False MAGEC3@p.S554G 1 0.245614035 ENSG00000165509 chrX:141897418-141897418;A/G missense_variant False MAGED1@p.Q66E 1 0.947368421 ENSG00000179222 chrX:51895203-51895203;C/G missense_variant False MAGED1@p.R693C 1 0.833333333 ENSG00000179222 chrX:51901670-51901670;C/T missense_variant False MAGED2@p.E142K 1 0.428571429 ENSG00000102316 chrX:54810100-54810100;G/A missense_variant False MAGED2@p.E488K 1 0.787878788 ENSG00000102316 chrX:54815323-54815323;G/A missense_variant False MAGED2@p.F441L 1 0.814814815 ENSG00000102316 chrX:54814712-54814712;C/A missense_variant False MAGED2@p.L348V 1 0.631578947 ENSG00000102316 chrX:54812208-54812208;C/G missense_variant False MAGEE1@p.L838F 1 0.461538462 ENSG00000198934 chrX:76430444-76430444;G/C missense_variant False MAGEE1@p.P490T 1 0.256410256 ENSG00000198934 chrX:76429398-76429398;C/A missense_variant False MAGEE1@p.R526C 1 0.827586207 ENSG00000198934 chrX:76429506-76429506;C/T missense_variant False MAGEE1@p.R658K 1 0.243243243 ENSG00000198934 chrX:76429903-76429903;G/A missense_variant False MAGEE1@p.R923K 1 0.642857143 ENSG00000198934 chrX:76430698-76430698;G/A missense_variant False MAGEE1@p.S211F 1 0.333333333 ENSG00000198934 chrX:76428562-76428562;C/T missense_variant False MAGEE2@p.E276K 1 1.0 ENSG00000186675 chrX:75784226-75784226;C/T missense_variant False MAEA@p.D72Y 1 0.180555556 ENSG00000090316 chr4:1312123-1312123;G/T missense_variant False MADD@p.S916Y 1 0.1375 ENSG00000110514 chr11:47289424-47289424;C/A missense_variant False MADD@p.R544K 1 0.212765957 ENSG00000110514 chr11:47282542-47282542;G/A missense_variant False MACF1@p.E3747Q 1 0.358974359 ENSG00000127603 chr1:39353031-39353031;G/C missense_variant False MACF1@p.E5365Q 1 0.390625 ENSG00000127603 chr1:39422829-39422829;G/C missense_variant False MACF1@p.E4573Q 1 0.287671233 ENSG00000127603 chr1:39382006-39382006;G/C missense_variant False MACF1@p.E4385K 1 0.2625 ENSG00000127603 chr1:39372521-39372521;G/A missense_variant False MACF1@p.E4070K 1 0.197674419 ENSG00000127603 chr1:39359213-39359213;G/A missense_variant False MACF1@p.E4039Q 1 0.266666667 ENSG00000127603 chr1:39358853-39358853;G/C missense_variant False MACF1@p.E3930Q 1 0.172413793 ENSG00000127603 chr1:39357723-39357723;G/C missense_variant False MACF1@p.E3037K 1 0.295774648 ENSG00000127603 chr1:39335682-39335682;G/A missense_variant False MACF1@p.D6124H 1 0.20952381 ENSG00000127603 chr1:39441961-39441961;G/C missense_variant False MACF1@p.E2782Q 1 0.102189781 ENSG00000127603 chr1:39334917-39334917;G/C missense_variant False MACF1@p.E2581Q 1 0.181818182 ENSG00000127603 chr1:39334314-39334314;G/C missense_variant False MACF1@p.E1177Q 1 0.629139073 ENSG00000127603 chr1:39316455-39316455;G/C missense_variant False MACF1@p.E1052K 1 0.571428571 ENSG00000127603 chr1:39310869-39310869;G/A missense_variant False MACF1@p.D6902E 1 0.366197183 ENSG00000127603 chr1:39455040-39455040;T/G missense_variant False MACF1@p.D6629H 1 0.24 ENSG00000127603 chr1:39448702-39448702;G/C missense_variant False MACF1@p.E5460Q 1 0.266129032 ENSG00000127603 chr1:39427501-39427501;G/C missense_variant False MACF1@p.E5473Q 1 0.13740458 ENSG00000127603 chr1:39427540-39427540;G/C missense_variant False MACF1@p.E5791Q 1 0.8625 ENSG00000127603 chr1:39434531-39434531;G/C missense_variant False MACF1@p.E5905D 1 0.12987013 ENSG00000127603 chr1:39437815-39437815;G/C missense_variant False MACF1@p.E6057Q 1 0.137931034 ENSG00000127603 chr1:39441036-39441036;G/C missense_variant False MACF1@p.E607Q 1 0.107142857 ENSG00000127603 chr1:39291928-39291928;G/C missense_variant False MACF1@p.E6106Q 1 0.125 ENSG00000127603 chr1:39441281-39441281;G/C missense_variant False MACF1@p.E630K 1 0.473684211 ENSG00000127603 chr1:39291997-39291997;G/A missense_variant False MACF1@p.E6727D 1 0.563106796 ENSG00000127603 chr1:39452230-39452230;G/C missense_variant False MACF1@p.E6817Q 1 0.502645503 ENSG00000127603 chr1:39453725-39453725;G/C missense_variant False MACF1@p.E6955Q 1 0.12962963 ENSG00000127603 chr1:39458469-39458469;G/C missense_variant False MACF1@p.E703K 1 0.309090909 ENSG00000127603 chr1:39293557-39293557;G/A missense_variant False MACF1@p.E7078D 1 0.273972603 ENSG00000127603 chr1:39461905-39461905;G/C missense_variant False MACF1@p.E7078Q 1 0.329787234 ENSG00000127603 chr1:39461903-39461903;G/C missense_variant False MACF1@p.E7194Q 1 0.29787234 ENSG00000127603 chr1:39479818-39479818;G/C missense_variant False MACF1@p.F3356L 1 0.52 ENSG00000127603 chr1:39336641-39336641;C/A missense_variant False MACF1@p.F3894C 1 0.048076923 ENSG00000127603 chr1:39357616-39357616;T/G missense_variant False MACF1@p.D6252Y 1 0.049180328 ENSG00000127603 chr1:39442529-39442529;G/T missense_variant False MACF1@p.D2738N 1 0.120879121 ENSG00000127603 chr1:39334785-39334785;G/A missense_variant False MACF1@p.G3991A 1 0.305084746 ENSG00000127603 chr1:39358710-39358710;G/C missense_variant False LZTS2@p.R367P 1 0.105263158 ENSG00000107816 chr10:101005489-101005489;G/C missense_variant False MAB21L1@p.E236K 1 0.12987013 ENSG00000180660 chr13:35475433-35475433;C/T missense_variant False M1AP@p.S512Y 1 0.5 ENSG00000159374 chr2:74558774-74558774;G/T missense_variant False M1AP@p.Q100H 1 0.088372093 ENSG00000159374 chr2:74615090-74615090;C/G missense_variant False M1AP@p.L51V 1 0.461538462 ENSG00000159374 chr2:74640125-74640125;G/C missense_variant False M1AP@p.E153Q 1 0.185185185 ENSG00000159374 chr2:74607193-74607193;C/G missense_variant False LZTS3@p.S96T 1 0.193548387 ENSG00000088899 chr20:3166878-3166878;A/T missense_variant False LZTS2@p.R262Q 1 0.173913043 ENSG00000107816 chr10:101003883-101003883;G/A missense_variant False MACF1@p.D1574H 1 0.230769231 ENSG00000127603 chr1:39331293-39331293;G/C missense_variant False LZTS2@p.G536V 1 0.25 ENSG00000107816 chr10:101006765-101006765;G/T missense_variant False LZTS1@p.G95R 1 0.382978723 ENSG00000061337 chr8:20254899-20254899;C/T missense_variant False LZTS1@p.E589Q 1 0.327868852 ENSG00000061337 chr8:20249748-20249748;C/G missense_variant False LZTS1@p.E296K 1 0.109090909 ENSG00000061337 chr8:20253045-20253045;C/T missense_variant False LZTR1@p.V74M 1 0.519480519 ENSG00000099949 chr22:20983046-20983046;G/A missense_variant False LZTR1@p.R755L 1 0.6875 ENSG00000099949 chr22:20996740-20996740;G/T missense_variant False MAB21L1@p.S279P 1 0.10989011 ENSG00000180660 chr13:35475304-35475304;A/G missense_variant False MAB21L2@p.E336D 1 0.5 ENSG00000181541 chr4:150584037-150584037;G/C missense_variant False MAB21L2@p.L56F 1 0.324324324 ENSG00000181541 chr4:150583197-150583197;G/C missense_variant False MAB21L2@p.R247Q 1 0.107142857 ENSG00000181541 chr4:150583769-150583769;G/A missense_variant False MAB21L2@p.R314H 1 0.282051282 ENSG00000181541 chr4:150583970-150583970;G/A missense_variant False MAB21L3@p.G135R 1 0.361111111 ENSG00000173212 chr1:116124279-116124279;G/A missense_variant False MAB21L3@p.H37N 1 0.122743682 ENSG00000173212 chr1:116120992-116120992;C/A missense_variant False MAB21L4@p.S173L 1 0.153846154 ENSG00000172478 chr2:240891760-240891760;G/A missense_variant False MACC1@p.A15T 1 0.389380531 ENSG00000183742 chr7:20161820-20161820;C/T missense_variant False MACC1@p.H123R 1 0.365853659 ENSG00000183742 chr7:20159993-20159993;T/C missense_variant False MACC1@p.I649M 1 0.114035088 ENSG00000183742 chr7:20158414-20158414;G/C missense_variant False MACC1@p.P492L 1 0.340659341 ENSG00000183742 chr7:20158886-20158886;G/A missense_variant False MACC1@p.S626P 1 0.504132231 ENSG00000183742 chr7:20158485-20158485;A/G missense_variant False MACC1@p.Y799C 1 0.704861111 ENSG00000183742 chr7:20141109-20141109;T/C missense_variant False MACF1@p.A1075T 1 0.421052632 ENSG00000127603 chr1:39310938-39310938;G/A missense_variant False MACF1@p.A6365T 1 0.369047619 ENSG00000127603 chr1:39443548-39443548;G/A missense_variant False MACF1@p.C1025F 1 0.260869565 ENSG00000127603 chr1:39310387-39310387;G/T missense_variant False MACF1@p.G1664A 1 0.202531646 ENSG00000127603 chr1:39331564-39331564;G/C missense_variant False MACF1@p.H2927D 1 0.346153846 ENSG00000127603 chr1:39335352-39335352;C/G missense_variant False MADD@p.P608L 1 0.064814815 ENSG00000110514 chr11:47282930-47282930;C/T missense_variant False MACROH2A1@p.S345Y 1 0.132743363 ENSG00000113648 chr5:135335061-135335061;G/T missense_variant False MAD2L1@p.R133K 1 0.272727273 ENSG00000164109 chr4:120060921-120060921;C/T missense_variant False MAD2L1@p.G15R 1 0.11627907 ENSG00000164109 chr4:120066692-120066692;C/T missense_variant False MAD1L1@p.S671L 1 0.376623377 ENSG00000002822 chr7:1816215-1816215;G/A missense_variant False MAD1L1@p.E340Q 1 0.235294118 ENSG00000002822 chr7:2149207-2149207;C/G missense_variant False MACROH2A2@p.D203N 1 0.125 ENSG00000099284 chr10:70095672-70095672;G/A missense_variant False MACROH2A1@p.V85M 1 0.12195122 ENSG00000113648 chr5:135370062-135370062;C/T missense_variant False MACROH2A1@p.L290V 1 0.25862069 ENSG00000113648 chr5:135343345-135343345;G/C missense_variant False MACO1@p.S423L 1 0.403508772 ENSG00000204178 chr1:25484229-25484229;C/T missense_variant False MACROH2A1@p.E112K 1 0.189189189 ENSG00000113648 chr5:135369549-135369549;C/T missense_variant False MACROD2@p.T144A 1 0.344827586 ENSG00000172264 chr20:15229951-15229951;A/G missense_variant False MACROD2@p.S73Y 1 0.35 ENSG00000172264 chr20:14085675-14085675;C/A missense_variant False MACROD2@p.P137S 1 0.441666667 ENSG00000172264 chr20:14684950-14684950;C/T missense_variant False MACROD2@p.L95V 1 0.319148936 ENSG00000172264 chr20:14493490-14493490;C/G missense_variant False MACROD2@p.C104G 1 0.073684211 ENSG00000172264 chr20:14684851-14684851;T/G missense_variant False MAD2L1@p.S80L 1 0.25 ENSG00000164109 chr4:120062077-120062077;G/A missense_variant False MAD2L1BP@p.D224H 1 0.548387097 ENSG00000124688 chr6:43640378-43640378;G/C missense_variant False MAD2L1BP@p.E67D 1 0.344827586 ENSG00000124688 chr6:43636535-43636535;A/C missense_variant False MAD2L1BP@p.E92K 1 0.869047619 ENSG00000124688 chr6:43636608-43636608;G/A missense_variant False MAD2L1BP@p.V234M 1 0.196721311 ENSG00000124688 chr6:43640408-43640408;G/A missense_variant False MAD2L1BP@p.Y91D 1 0.12455516 ENSG00000124688 chr6:43636605-43636605;T/G missense_variant False MAD2L2@p.L29F 1 0.482428115 ENSG00000116670 chr1:11680427-11680427;G/A missense_variant False MADCAM1@p.G315Vfs*45 1 0.126126126 ENSG00000099866 chr19:504758-504758;G/- frameshift_variant False MADD@p.E1151K 1 0.235294118 ENSG00000110514 chr11:47293918-47293918;G/A missense_variant False MADD@p.E1306Q 1 0.582417582 ENSG00000110514 chr11:47309027-47309027;G/C missense_variant False MADD@p.E45K 1 0.071428571 ENSG00000110514 chr11:47274633-47274633;G/A missense_variant False MADD@p.E823Q 1 0.081481481 ENSG00000110514 chr11:47285506-47285506;G/C missense_variant False MADD@p.E973K 1 0.484536082 ENSG00000110514 chr11:47289967-47289967;G/A missense_variant False MADD@p.F1510L 1 0.126984127 ENSG00000110514 chr11:47323823-47323823;C/A missense_variant False MADD@p.I1601V 1 0.223880597 ENSG00000110514 chr11:47328666-47328666;A/G missense_variant False MADD@p.M435I 1 0.093023256 ENSG00000110514 chr11:47281589-47281589;G/C missense_variant False MADD@p.P573S 1 0.28 ENSG00000110514 chr11:47282824-47282824;C/T missense_variant False MACO1@p.Y640C 1 0.097222222 ENSG00000204178 chr1:25498390-25498390;A/G missense_variant False MACO1@p.M425R 1 0.180327869 ENSG00000204178 chr1:25484235-25484235;T/G missense_variant False MACF1@p.K3506T 1 0.5 ENSG00000127603 chr1:39340874-39340874;A/C missense_variant False MACF1@p.P64L 1 0.5 ENSG00000127603 chr1:39084409-39084409;C/T missense_variant False MACF1@p.R5410T 1 0.178571429 ENSG00000127603 chr1:39424092-39424092;G/C missense_variant False MACF1@p.R5324Q 1 0.310810811 ENSG00000127603 chr1:39422513-39422513;G/A missense_variant False MACF1@p.Q6418H 1 0.448717949 ENSG00000127603 chr1:39444796-39444796;G/T missense_variant False MACF1@p.Q5015K 1 0.359375 ENSG00000127603 chr1:39387870-39387870;C/A missense_variant False MACF1@p.Q2944E 1 0.086956522 ENSG00000127603 chr1:39335403-39335403;C/G missense_variant False MACF1@p.Q2550H 1 0.102739726 ENSG00000127603 chr1:39334223-39334223;G/T missense_variant False MACF1@p.P539T 1 0.139534884 ENSG00000127603 chr1:39287377-39287377;C/A missense_variant False MACO1@p.L127F 1 0.37254902 ENSG00000204178 chr1:25454288-25454288;C/T missense_variant False MACF1@p.M7245L 1 0.304347826 ENSG00000127603 chr1:39479971-39479971;A/T missense_variant False MACF1@p.M3812I 1 0.45 ENSG00000127603 chr1:39353228-39353228;G/A missense_variant False MACF1@p.M2907I 1 0.079365079 ENSG00000127603 chr1:39335294-39335294;G/C missense_variant False MACF1@p.L4779F 1 0.325581395 ENSG00000127603 chr1:39385905-39385905;C/T missense_variant False MACF1@p.L2493I 1 0.540983607 ENSG00000127603 chr1:39334050-39334050;C/A missense_variant False MACF1@p.L1745F 1 0.058510638 ENSG00000127603 chr1:39331808-39331808;G/C missense_variant False MACF1@p.R6636T 1 0.155555556 ENSG00000127603 chr1:39448724-39448724;G/C missense_variant False MACF1@p.R6760Q 1 0.2 ENSG00000127603 chr1:39452328-39452328;G/A missense_variant False MACF1@p.R6869C 1 0.227272727 ENSG00000127603 chr1:39454939-39454939;C/T missense_variant False MACF1@p.R7196K 1 0.425 ENSG00000127603 chr1:39479825-39479825;G/A missense_variant False MACF1@p.R811Q 1 0.459016393 ENSG00000127603 chr1:39297681-39297681;G/A missense_variant False MACF1@p.S2658L 1 0.23943662 ENSG00000127603 chr1:39334546-39334546;C/T missense_variant False MACF1@p.S3963L 1 0.205128205 ENSG00000127603 chr1:39357823-39357823;C/T missense_variant False MACF1@p.S4027L 1 0.263157895 ENSG00000127603 chr1:39358818-39358818;C/T missense_variant False MACF1@p.S4230C 1 0.446601942 ENSG00000127603 chr1:39361580-39361580;C/G missense_variant False MACF1@p.S4864C 1 0.213483146 ENSG00000127603 chr1:39387418-39387418;C/G missense_variant False MACF1@p.S5184Y 1 0.307692308 ENSG00000127603 chr1:39388378-39388378;C/A missense_variant False MACF1@p.T4896Lfs*29 1 0.254901961 ENSG00000127603 chr1:39387507-39387507;A/- frameshift_variant False MACF1@p.V849I 1 0.19760479 ENSG00000127603 chr1:39300258-39300258;G/A missense_variant False MACF1@p.W4813C 1 0.08988764 ENSG00000127603 chr1:39387266-39387266;G/T missense_variant False MACO1@p.D262Y 1 0.319148936 ENSG00000204178 chr1:25458522-25458522;G/T missense_variant False MACO1@p.E424K 1 0.285714286 ENSG00000204178 chr1:25484231-25484231;G/A missense_variant False MACO1@p.E433K 1 0.133333333 ENSG00000204178 chr1:25484258-25484258;G/A missense_variant False MARK1@p.L288M 1 0.166666667 ENSG00000116141 chr1:220618708-220618708;C/A missense_variant False MARK1@p.S546L 1 0.355769231 ENSG00000116141 chr1:220652051-220652051;C/T missense_variant False KMT2C@p.D935N 1 0.12345679 ENSG00000055609 chr7:152230288-152230288;C/T missense_variant True MEGF8@p.P2167S 1 0.46 ENSG00000105429 chr19:42368860-42368860;C/T missense_variant False MEGF9@p.S196C 1 0.25 ENSG00000106780 chr9:120713772-120713772;G/C missense_variant False MEGF9@p.Q138E 1 0.363636364 ENSG00000106780 chr9:120713947-120713947;G/C missense_variant False MEGF9@p.G222R 1 0.434782609 ENSG00000106780 chr9:120659513-120659513;C/T missense_variant False MEGF9@p.F336V 1 0.25 ENSG00000106780 chr9:120612477-120612477;A/C missense_variant False MEGF8@p.R1953H 1 0.43715847 ENSG00000105429 chr19:42362397-42362397;G/A missense_variant False MEGF8@p.R1104P 1 0.2 ENSG00000105429 chr19:42352417-42352417;G/C missense_variant False MEGF8@p.G1890E 1 0.514705882 ENSG00000105429 chr19:42360955-42360955;G/A missense_variant False MEI1@p.E331Q 1 0.452380952 ENSG00000167077 chr22:41730532-41730532;G/C missense_variant False MEGF8@p.G1890A 1 0.186046512 ENSG00000105429 chr19:42360955-42360955;G/C missense_variant False MEGF8@p.E80K 1 0.186440678 ENSG00000105429 chr19:42333655-42333655;G/A missense_variant False MEGF8@p.E194K 1 0.37037037 ENSG00000105429 chr19:42335056-42335056;G/A missense_variant False MEGF8@p.D479H 1 0.333333333 ENSG00000105429 chr19:42337128-42337128;G/C missense_variant False MEGF8@p.C1085Y 1 0.533333333 ENSG00000105429 chr19:42352360-42352360;G/A missense_variant False MEGF8@p.A2T 1 0.466666667 ENSG00000105429 chr19:42326247-42326247;G/A missense_variant False MEGF9@p.S281C 1 0.074074074 ENSG00000106780 chr9:120622717-120622717;G/C missense_variant False MEI1@p.I165T 1 0.285714286 ENSG00000167077 chr22:41716111-41716111;T/C missense_variant False METAP1D@p.E201K 1 0.573770492 ENSG00000172878 chr2:172070967-172070967;G/A missense_variant False MEIOC@p.N586K 1 0.259259259 ENSG00000180336 chr17:44667669-44667669;T/G missense_variant False MEIS2@p.A29T 1 0.291666667 ENSG00000134138 chr15:37098127-37098127;C/T missense_variant False MEIS1@p.V359L 1 0.391534392 ENSG00000143995 chr2:66568717-66568717;G/T missense_variant False MEIS1@p.S301F 1 0.46 ENSG00000143995 chr2:66547956-66547956;C/T missense_variant False MEIOC@p.T252K 1 0.444444444 ENSG00000180336 chr17:44666666-44666666;C/A missense_variant False MEIOC@p.R691K 1 0.147058824 ENSG00000180336 chr17:44667983-44667983;G/A missense_variant False MEIOC@p.R492Q 1 0.225 ENSG00000180336 chr17:44667386-44667386;G/A missense_variant False MEIOC@p.L629V 1 0.4 ENSG00000180336 chr17:44667796-44667796;T/G missense_variant False MEI1@p.Q519H 1 0.189189189 ENSG00000167077 chr22:41745903-41745903;G/C missense_variant False MEIOC@p.E554Q 1 0.181818182 ENSG00000180336 chr17:44667571-44667571;G/C missense_variant False MEIOB@p.G396E 1 0.18 ENSG00000162039 chr16:1839286-1839286;C/T missense_variant False MEIG1@p.R39K 1 0.430555556 ENSG00000197889 chr10:14966584-14966584;G/A missense_variant False MEI1@p.S1100L 1 0.933333333 ENSG00000167077 chr22:41784737-41784737;C/T missense_variant False MEI1@p.S1073C 1 0.274509804 ENSG00000167077 chr22:41784656-41784656;C/G missense_variant False MEI1@p.R883G 1 0.396396396 ENSG00000167077 chr22:41776204-41776204;C/G missense_variant False MEGF8@p.A2606V 1 0.086705202 ENSG00000105429 chr19:42376054-42376054;C/T missense_variant False MEGF6@p.R500Q 1 0.21875 ENSG00000162591 chr1:3509104-3509104;C/T missense_variant False MEGF6@p.Q571H 1 0.338235294 ENSG00000162591 chr1:3507871-3507871;C/G missense_variant False MEF2C@p.E456K 1 0.634146341 ENSG00000081189 chr5:88722660-88722660;C/T missense_variant False MEFV@p.D321H 1 0.263157895 ENSG00000103313 chr16:3249730-3249730;C/G missense_variant False MEF2D@p.K5N 1 0.21875 ENSG00000116604 chr1:156483278-156483278;C/A missense_variant False MEF2D@p.H284Y 1 0.092105263 ENSG00000116604 chr1:156477017-156477017;G/A missense_variant False MEF2C@p.R118K 1 0.282051282 ENSG00000081189 chr5:88761234-88761234;C/T missense_variant False MEF2C@p.I390M 1 0.166666667 ENSG00000081189 chr5:88722856-88722856;G/C missense_variant False MEF2C@p.H188R 1 0.135 ENSG00000081189 chr5:88751883-88751883;T/C missense_variant False MEF2B@p.R219L 1 0.152777778 ENSG00000213999 chr19:19146761-19146761;C/A missense_variant False MEGF6@p.E713K 1 0.28125 ENSG00000162591 chr1:3505259-3505259;C/T missense_variant False MEF2B@p.E104K 1 0.15625 ENSG00000213999 chr19:19147781-19147781;C/T missense_variant False MEF2B@p.D96H 1 0.24691358 ENSG00000213999 chr19:19147805-19147805;C/G missense_variant False MEF2A@p.L207F 1 0.1 ENSG00000068305 chr15:99675409-99675409;G/C missense_variant False MEF2A@p.G258V 1 0.166666667 ENSG00000068305 chr15:99690343-99690343;G/T missense_variant False MEF2A@p.G217A 1 0.369230769 ENSG00000068305 chr15:99675438-99675438;G/C missense_variant False MEF2A@p.D103N 1 0.193877551 ENSG00000068305 chr15:99671371-99671371;G/A missense_variant False MEFV@p.E446Q 1 0.122699387 ENSG00000103313 chr16:3248929-3248929;C/G missense_variant False MEFV@p.E524K 1 0.40625 ENSG00000103313 chr16:3247033-3247033;C/T missense_variant False MEFV@p.E581K 1 0.439393939 ENSG00000103313 chr16:3244272-3244272;C/T missense_variant False MEFV@p.G138A 1 0.485714286 ENSG00000103313 chr16:3254655-3254655;C/G missense_variant False MEFV@p.G532E 1 0.324324324 ENSG00000103313 chr16:3246540-3246540;C/T missense_variant False MEFV@p.G727A 1 0.263157895 ENSG00000103313 chr16:3243307-3243307;C/G missense_variant False MEFV@p.K35del 1 0.127659574 ENSG00000103313 chr16:3256483-3256485;CTT/- inframe_deletion False MEGF10@p.F959L 1 0.432432432 ENSG00000145794 chr5:127449119-127449119;T/G missense_variant False MEGF10@p.G1004R 1 0.517241379 ENSG00000145794 chr5:127454595-127454595;G/A missense_variant False MEGF10@p.Q236H 1 0.244897959 ENSG00000145794 chr5:127398724-127398724;G/C missense_variant False MEGF10@p.R455C 1 0.188405797 ENSG00000145794 chr5:127419177-127419177;C/T missense_variant False MEGF10@p.R844L 1 0.484848485 ENSG00000145794 chr5:127445496-127445496;G/T missense_variant False MEGF10@p.W144C 1 0.077348066 ENSG00000145794 chr5:127396551-127396551;G/C missense_variant False MEGF11@p.E830K 1 0.238095238 ENSG00000157890 chr15:65913959-65913959;C/T missense_variant False MEGF11@p.G377A 1 0.5625 ENSG00000157890 chr15:65957704-65957704;C/G missense_variant False MEGF6@p.A1539T 1 0.323809524 ENSG00000162591 chr1:3490539-3490539;C/T missense_variant False MEGF6@p.E507G 1 0.260869565 ENSG00000162591 chr1:3509083-3509083;T/C missense_variant False MEIS2@p.A53T 1 0.153846154 ENSG00000134138 chr15:37098055-37098055;C/T missense_variant False MEIS2@p.A99V 1 0.19047619 ENSG00000134138 chr15:37096380-37096380;G/A missense_variant False MEIS2@p.D390G 1 0.071823204 ENSG00000134138 chr15:36892438-36892438;T/C missense_variant False MERTK@p.Y749C 1 0.255434783 ENSG00000153208 chr2:112021478-112021478;A/G missense_variant False MESP2@p.S344G 1 0.086956522 ENSG00000188095 chr15:89778170-89778170;A/G missense_variant False MESP2@p.E315K 1 0.16 ENSG00000188095 chr15:89778083-89778083;G/A missense_variant False MESP2@p.A247E 1 0.3125 ENSG00000188095 chr15:89777097-89777097;C/A missense_variant False MESD@p.R8C 1 0.8125 ENSG00000117899 chr15:80989770-80989770;G/A missense_variant False MESD@p.G30V 1 0.328571429 ENSG00000117899 chr15:80989703-80989703;C/A missense_variant False MESD@p.D92H 1 0.149425287 ENSG00000117899 chr15:80982122-80982122;C/G missense_variant False MERTK@p.L895F 1 0.158878505 ENSG00000153208 chr2:112028549-112028549;G/C missense_variant False MEPE@p.T298R 1 0.25 ENSG00000152595 chr4:87845761-87845761;C/G missense_variant False MERTK@p.L653V 1 0.321428571 ENSG00000153208 chr2:112008472-112008472;C/G missense_variant False MERTK@p.I897M 1 0.42 ENSG00000153208 chr2:112028555-112028555;C/G missense_variant False MERTK@p.I229V 1 0.25 ENSG00000153208 chr2:111947495-111947495;A/G missense_variant False MERTK@p.H565L 1 0.25 ENSG00000153208 chr2:112003095-112003095;A/T missense_variant False MERTK@p.G887R 1 0.411764706 ENSG00000153208 chr2:112028523-112028523;G/C missense_variant False MERTK@p.E364K 1 0.490196078 ENSG00000153208 chr2:111975418-111975418;G/A missense_variant False MEST@p.G67E 1 0.146341463 ENSG00000106484 chr7:130497174-130497174;G/A missense_variant False MET@p.C95F 1 0.238636364 ENSG00000105976 chr7:116699368-116699368;G/T missense_variant True MET@p.D864N 1 0.222222222 ENSG00000105976 chr7:116769651-116769651;G/A missense_variant True MET@p.E1378K 1 0.20441989 ENSG00000105976 chr7:116796083-116796083;G/A missense_variant True MET@p.E355K 1 0.29787234 ENSG00000105976 chr7:116700147-116700147;G/A missense_variant True MET@p.F1124L 1 0.160714286 ENSG00000105976 chr7:116778805-116778805;T/C missense_variant True MET@p.G764R 1 0.125 ENSG00000105976 chr7:116759416-116759416;G/C missense_variant True MET@p.L903F 1 0.15625 ENSG00000105976 chr7:116769770-116769770;G/C missense_variant True MET@p.Q808K 1 0.166666667 ENSG00000105976 chr7:116763107-116763107;C/A missense_variant True MET@p.R1148Q 1 0.179411765 ENSG00000105976 chr7:116778878-116778878;G/A missense_variant True MET@p.R384T 1 0.086092715 ENSG00000105976 chr7:116700235-116700235;G/C missense_variant True MET@p.V1352L 1 0.372413793 ENSG00000105976 chr7:116796005-116796005;G/T missense_variant True MET@p.V370I 1 0.25974026 ENSG00000105976 chr7:116700192-116700192;G/A missense_variant True MET@p.V939F 1 0.169934641 ENSG00000105976 chr7:116771582-116771582;G/T missense_variant True METAP1@p.E369Q 1 0.294117647 ENSG00000164024 chr4:99061261-99061261;G/C missense_variant False METAP1@p.Q127E 1 0.237113402 ENSG00000164024 chr4:99039412-99039412;C/G missense_variant False METAP1D@p.D165H 1 0.28 ENSG00000172878 chr2:172065748-172065748;G/C missense_variant False MERTK@p.D811N 1 0.253521127 ENSG00000153208 chr2:112022339-112022339;G/A missense_variant False MEPE@p.S212N 1 0.4 ENSG00000152595 chr4:87845503-87845503;G/A missense_variant False MEIS2@p.P302Q 1 0.080645161 ENSG00000134138 chr15:36950396-36950396;G/T missense_variant False MELTF@p.G485D 1 0.136986301 ENSG00000163975 chr3:197009689-197009689;C/T missense_variant False MEOX1@p.M224I 1 0.2 ENSG00000005102 chr17:43642003-43642003;C/G missense_variant False MEN1@p.S313L 1 0.351145038 ENSG00000133895 chr11:64806358-64806358;G/A missense_variant True MEN1@p.R521Pfs*15 1 0.545454545 ENSG00000133895 chr11:64804620-64804621;-/G frameshift_variant True MEMO1@p.D106Y 1 0.428571429 ENSG00000162959 chr2:31920807-31920807;C/A missense_variant False MELTF@p.V138M 1 0.48 ENSG00000163975 chr3:197024378-197024378;C/T missense_variant False MELTF@p.G537R 1 0.049261084 ENSG00000163975 chr3:197008882-197008882;C/G missense_variant False MELTF@p.E41Q 1 0.28 ENSG00000163975 chr3:197027839-197027839;C/G missense_variant False MEPE@p.R148T 1 0.216216216 ENSG00000152595 chr4:87845311-87845311;G/C missense_variant False MELK@p.V506A 1 0.256410256 ENSG00000165304 chr9:36671009-36671009;T/C missense_variant False MELK@p.L207P 1 0.375 ENSG00000165304 chr9:36607627-36607627;T/C missense_variant False MELK@p.E507K 1 0.263157895 ENSG00000165304 chr9:36671011-36671011;G/A missense_variant False MEIS3@p.R319L 1 0.333333333 ENSG00000105419 chr19:47407117-47407117;C/A missense_variant False MEIS3@p.P288R 1 0.512820513 ENSG00000105419 chr19:47407424-47407424;G/C missense_variant False MEIS3@p.E77K 1 0.222222222 ENSG00000105419 chr19:47416920-47416920;C/T missense_variant False MEOX1@p.P49S 1 0.204081633 ENSG00000005102 chr17:43661390-43661390;G/A missense_variant False MEOX2@p.D113N 1 0.538461538 ENSG00000106511 chr7:15686066-15686066;C/T missense_variant False MEOX2@p.H303Y 1 0.111111111 ENSG00000106511 chr7:15612395-15612395;G/A missense_variant False MEOX2@p.Q236L 1 0.088709677 ENSG00000106511 chr7:15612595-15612595;T/A missense_variant False MEP1A@p.E446K 1 0.211678832 ENSG00000112818 chr6:46833265-46833265;G/A missense_variant False MEP1A@p.E514K 1 0.148148148 ENSG00000112818 chr6:46833469-46833469;G/A missense_variant False MEP1A@p.G298E 1 0.383458647 ENSG00000112818 chr6:46826468-46826468;G/A missense_variant False MEP1B@p.P72L 1 0.316666667 ENSG00000141434 chr18:32195450-32195450;C/T missense_variant False MEP1B@p.S423L 1 0.169811321 ENSG00000141434 chr18:32213248-32213248;C/T missense_variant False MEP1B@p.T500K 1 0.086206897 ENSG00000141434 chr18:32213479-32213479;C/A missense_variant False MEPCE@p.L290I 1 0.258741259 ENSG00000289690 chr7:100430886-100430886;C/A missense_variant False MEPCE@p.Q314Nfs*124 1 0.488372093 ENSG00000289690 chr7:100430953-100430953;C/- frameshift_variant False MEPCE@p.R325K 1 0.41509434 ENSG00000289690 chr7:100430992-100430992;G/A missense_variant False MEPCE@p.R361Q 1 0.191489362 ENSG00000289690 chr7:100431100-100431100;G/A missense_variant False MEPE@p.E311K 1 0.163636364 ENSG00000152595 chr4:87845799-87845799;G/A missense_variant False MEPE@p.G125R 1 0.378947368 ENSG00000152595 chr4:87845241-87845241;G/A missense_variant False MEPE@p.P376L 1 0.744186047 ENSG00000152595 chr4:87845995-87845995;C/T missense_variant False MEDAG@p.R276T 1 0.04950495 ENSG00000102802 chr13:30924350-30924350;G/C missense_variant False MEDAG@p.R249S 1 0.577777778 ENSG00000102802 chr13:30921806-30921806;G/C missense_variant False MEDAG@p.I144R 1 0.068181818 ENSG00000102802 chr13:30921056-30921056;T/G missense_variant False MED13@p.Q1800E 1 0.227272727 ENSG00000108510 chr17:61960949-61960949;G/C missense_variant False MED13@p.S1138L 1 0.136363636 ENSG00000108510 chr17:61982590-61982590;G/A missense_variant False MED13@p.R1222H 1 0.165562914 ENSG00000108510 chr17:61982338-61982338;C/T missense_variant False MED13@p.Q632E 1 0.309090909 ENSG00000108510 chr17:62010623-62010623;G/C missense_variant False MED13@p.Q556H 1 0.239316239 ENSG00000108510 chr17:62010849-62010849;C/G missense_variant False MED13@p.Q532E 1 0.057251908 ENSG00000108510 chr17:62010923-62010923;G/C missense_variant False MED13@p.Q2041H 1 0.079646018 ENSG00000108510 chr17:61950993-61950993;C/G missense_variant False MED13@p.P1490S 1 0.32183908 ENSG00000108510 chr17:61965382-61965382;G/A missense_variant False MED13@p.E607K 1 0.278846154 ENSG00000108510 chr17:62010698-62010698;C/T missense_variant False MED13@p.L232I 1 0.25 ENSG00000108510 chr17:62033907-62033907;A/T missense_variant False MED13@p.G1812A 1 0.202898551 ENSG00000108510 chr17:61960912-61960912;C/G missense_variant False MED13@p.F1985L 1 0.136986301 ENSG00000108510 chr17:61955395-61955395;G/C missense_variant False MED13@p.F120L 1 0.229946524 ENSG00000108510 chr17:62052647-62052647;G/C missense_variant False MED13@p.E87K 1 0.29245283 ENSG00000108510 chr17:62063109-62063109;C/T missense_variant False MED13@p.E856Q 1 0.358490566 ENSG00000108510 chr17:61984776-61984776;C/G missense_variant False MED13@p.S1185C 1 0.328244275 ENSG00000108510 chr17:61982449-61982449;G/C missense_variant False MED13@p.S1539L 1 0.315384615 ENSG00000108510 chr17:61965234-61965234;G/A missense_variant False MED13@p.S1717L 1 0.197802198 ENSG00000108510 chr17:61961694-61961694;G/A missense_variant False MED13@p.S509L 1 0.235294118 ENSG00000108510 chr17:62010991-62010991;G/A missense_variant False MED13@p.V2104M 1 0.147826087 ENSG00000108510 chr17:61946999-61946999;C/T missense_variant False MED13@p.W1846dup 1 0.107692308 ENSG00000108510 chr17:61956421-61956422;-/CAC inframe_insertion False MED13L@p.D1336H 1 0.092592593 ENSG00000123066 chr12:115987217-115987217;C/G missense_variant False MED13L@p.E1296K 1 0.273972603 ENSG00000123066 chr12:115991068-115991068;C/T missense_variant False MED13L@p.E131Q 1 0.103703704 ENSG00000123066 chr12:116111432-116111432;C/G missense_variant False MED13L@p.E1664K 1 0.225 ENSG00000123066 chr12:115982569-115982569;C/T missense_variant False MED13L@p.E1709K 1 0.185714286 ENSG00000123066 chr12:115982434-115982434;C/T missense_variant False MED13L@p.E402Q 1 0.23 ENSG00000123066 chr12:116012873-116012873;C/G missense_variant False MED13L@p.R863K 1 0.242105263 ENSG00000123066 chr12:115997212-115997212;C/T missense_variant False MED13L@p.S424C 1 0.24260355 ENSG00000123066 chr12:116012806-116012806;G/C missense_variant False MED13L@p.Y1012C 1 0.3 ENSG00000123066 chr12:115991919-115991919;T/C missense_variant False MED14@p.D972N 1 0.265306122 ENSG00000180182 chrX:40675328-40675328;C/T missense_variant False MED14@p.P984H 1 0.5 ENSG00000180182 chrX:40675291-40675291;G/T missense_variant False MED13@p.E705K 1 0.297752809 ENSG00000108510 chr17:61995220-61995220;C/T missense_variant False MED13@p.E179K 1 0.26984127 ENSG00000108510 chr17:62035544-62035544;C/T missense_variant False MED14@p.R1162G 1 0.111111111 ENSG00000180182 chrX:40663125-40663125;G/C missense_variant False MED12@p.Q199H 1 0.74 ENSG00000184634 chrX:71121014-71121014;G/C missense_variant True MED12L@p.D350H 1 0.237804878 ENSG00000144893 chr3:151160042-151160042;G/C missense_variant False MED12L@p.D1542N 1 0.3 ENSG00000144893 chr3:151383827-151383827;G/A missense_variant False MED12@p.S1891A 1 0.5 ENSG00000184634 chrX:71137306-71137306;T/G missense_variant True MED12@p.Q323E 1 0.358490566 ENSG00000184634 chrX:71121682-71121682;C/G missense_variant True MED12@p.Q31E 1 0.172413793 ENSG00000184634 chrX:71118845-71118845;C/G missense_variant True MED12@p.Q27E 1 0.413793103 ENSG00000184634 chrX:71118833-71118833;C/G missense_variant True MED12@p.M2033I 1 0.204081633 ENSG00000184634 chrX:71140689-71140689;G/A missense_variant True MED13@p.E1755Q 1 0.1875 ENSG00000108510 chr17:61961084-61961084;C/G missense_variant False MED12@p.L1312S 1 0.833333333 ENSG00000184634 chrX:71130102-71130102;T/C missense_variant True MED12@p.L120V 1 0.769230769 ENSG00000184634 chrX:71119839-71119839;T/G missense_variant True MED12@p.K1788E 1 0.739130435 ENSG00000184634 chrX:71136617-71136617;A/G missense_variant True MED12@p.H318D 1 0.8 ENSG00000184634 chrX:71121667-71121667;C/G missense_variant True MED12@p.G1218R 1 0.225806452 ENSG00000184634 chrX:71129390-71129390;G/A missense_variant True MED12@p.E749D 1 0.646341463 ENSG00000184634 chrX:71125371-71125371;G/T missense_variant True MED12L@p.F488L 1 0.208 ENSG00000144893 chr3:151165952-151165952;C/G missense_variant False MED12L@p.L2092F 1 0.152380952 ENSG00000144893 chr3:151416393-151416393;C/T missense_variant False MED12L@p.L273S 1 0.166666667 ENSG00000144893 chr3:151158780-151158780;T/C missense_variant False MED12L@p.M1640V 1 0.591346154 ENSG00000144893 chr3:151385126-151385126;A/G missense_variant False MED12L@p.M966L 1 0.431034483 ENSG00000144893 chr3:151365022-151365022;A/C missense_variant False MED12L@p.P1626L 1 0.242677824 ENSG00000144893 chr3:151385085-151385085;C/T missense_variant False MED12L@p.P1973A 1 0.292307692 ENSG00000144893 chr3:151411389-151411389;C/G missense_variant False MED12L@p.Q831E 1 0.109090909 ENSG00000144893 chr3:151355974-151355974;C/G missense_variant False MED12L@p.R1695Q 1 0.156862745 ENSG00000144893 chr3:151387910-151387910;G/A missense_variant False MED12L@p.R1838T 1 0.206422018 ENSG00000144893 chr3:151394665-151394665;G/C missense_variant False MED12L@p.S1553L 1 0.5 ENSG00000144893 chr3:151383861-151383861;C/T missense_variant False MED12L@p.S1855L 1 0.306451613 ENSG00000144893 chr3:151394716-151394716;C/T missense_variant False MED13@p.D1186N 1 0.420454545 ENSG00000108510 chr17:61982447-61982447;C/T missense_variant False MED13@p.D636H 1 0.226415094 ENSG00000108510 chr17:62010611-62010611;C/G missense_variant False MED13@p.D688N 1 0.296875 ENSG00000108510 chr17:61995271-61995271;C/T missense_variant False MED13@p.D696N 1 0.3 ENSG00000108510 chr17:61995247-61995247;C/T missense_variant False MED13@p.D730Y 1 0.142857143 ENSG00000108510 chr17:61992615-61992615;C/A missense_variant False MED14@p.R1162C 1 0.894736842 ENSG00000180182 chrX:40663125-40663125;G/A missense_variant False MED15@p.A142S 1 0.333333333 ENSG00000099917 chr22:20555121-20555121;G/T missense_variant False MED9@p.E61K 1 0.470588235 ENSG00000141026 chr17:17477222-17477222;G/A missense_variant False MED25@p.L169V 1 0.1 ENSG00000104973 chr19:49829070-49829070;C/G missense_variant False MED26@p.R400P 1 0.277777778 ENSG00000105085 chr19:16576631-16576631;C/G missense_variant False MED26@p.P265Sfs*17 1 0.565217391 ENSG00000105085 chr19:16577037-16577038;-/A frameshift_variant False MED26@p.E513Q 1 0.29787234 ENSG00000105085 chr19:16576293-16576293;C/G missense_variant False MED26@p.D588N 1 0.896551724 ENSG00000105085 chr19:16576068-16576068;C/T missense_variant False MED25@p.P330R 1 0.525 ENSG00000104973 chr19:49830775-49830775;C/G missense_variant False MED25@p.L191V 1 0.4375 ENSG00000104973 chr19:49829831-49829831;C/G missense_variant False MED25@p.K440N 1 0.24691358 ENSG00000104973 chr19:49832103-49832103;G/T missense_variant False MED22@p.I37M 1 0.283333333 ENSG00000148297 chr9:133346552-133346552;G/C missense_variant False MED24@p.S89F 1 0.104477612 ENSG00000008838 chr17:40035782-40035782;G/A missense_variant False MED24@p.R548P 1 0.677419355 ENSG00000008838 chr17:40026922-40026922;C/G missense_variant False MED24@p.K446N 1 0.275862069 ENSG00000008838 chr17:40028897-40028897;C/G missense_variant False MED24@p.E332Q 1 0.2 ENSG00000008838 chr17:40031611-40031611;C/G missense_variant False MED23@p.S104C 1 0.15 ENSG00000112282 chr6:131623436-131623436;G/C missense_variant False MED23@p.N438D 1 0.411764706 ENSG00000112282 chr6:131606534-131606534;T/C missense_variant False MED26@p.R492Q 1 0.294117647 ENSG00000105085 chr19:16576355-16576355;C/T missense_variant False MED26@p.S386L 1 0.357142857 ENSG00000105085 chr19:16576673-16576673;G/A missense_variant False MED27@p.D170N 1 0.079365079 ENSG00000160563 chr9:131939446-131939446;C/T missense_variant False MED27@p.Q106E 1 0.167259786 ENSG00000160563 chr9:132077474-132077474;G/C missense_variant False MED27@p.R146H 1 0.252336449 ENSG00000160563 chr9:132014379-132014379;C/T missense_variant False MED27@p.T212del 1 0.177419355 ENSG00000160563 chr9:131893929-131893931;TTG/- inframe_deletion False MED28@p.E117Q 1 0.177419355 ENSG00000118579 chr4:17623610-17623610;G/C missense_variant False MED28@p.E47D 1 0.101265823 ENSG00000118579 chr4:17614795-17614795;G/C missense_variant False MED28@p.R74G 1 0.073529412 ENSG00000118579 chr4:17619961-17619961;C/G missense_variant False MED29@p.E129K 1 0.08358209 ENSG00000063322 chr19:39393599-39393599;G/A missense_variant False MED29@p.L95F 1 0.328571429 ENSG00000063322 chr19:39392469-39392469;G/C missense_variant False MED29@p.S34L 1 0.233333333 ENSG00000063322 chr19:39391460-39391460;C/T missense_variant False MED4@p.N24D 1 0.833333333 ENSG00000136146 chr13:48095009-48095009;T/C missense_variant False MED6@p.Q74E 1 0.156862745 ENSG00000133997 chr14:70596665-70596665;G/C missense_variant False MED6@p.R138Q 1 0.190909091 ENSG00000133997 chr14:70592933-70592933;C/T missense_variant False MED7@p.Q214E 1 0.15862069 ENSG00000155868 chr5:157138792-157138792;G/C missense_variant False MED8@p.L220F 1 0.163865546 ENSG00000159479 chr1:43386060-43386060;T/G missense_variant False MED23@p.H454R 1 0.204081633 ENSG00000112282 chr6:131606485-131606485;T/C missense_variant False MED20@p.G185S 1 0.173076923 ENSG00000288721 chr6:41907158-41907158;C/T missense_variant False MED15@p.G651S 1 0.180904523 ENSG00000099917 chr22:20585002-20585002;G/A missense_variant False MED16@p.V18L 1 0.237288136 ENSG00000175221 chr19:891080-891080;C/G missense_variant False MED17@p.L204I 1 0.388888889 ENSG00000042429 chr11:93790766-93790766;C/A missense_variant False MED17@p.I491V 1 0.085106383 ENSG00000042429 chr11:93807522-93807522;A/G missense_variant False MED17@p.G426V 1 0.125 ENSG00000042429 chr11:93797668-93797668;G/T missense_variant False MED17@p.E500Q 1 0.306666667 ENSG00000042429 chr11:93807549-93807549;G/C missense_variant False MED17@p.D414H 1 0.24375 ENSG00000042429 chr11:93797631-93797631;G/C missense_variant False MED16@p.V213M 1 0.166666667 ENSG00000175221 chr19:886012-886012;C/T missense_variant False MED16@p.S562L 1 0.302325581 ENSG00000175221 chr19:875330-875330;G/A missense_variant False MED1@p.S387T 1 0.239583333 ENSG00000125686 chr17:39419854-39419854;C/G missense_variant False MED15@p.S74F 1 0.112 ENSG00000099917 chr22:20553157-20553157;C/T missense_variant False MED15@p.Q312H 1 0.054054054 ENSG00000099917 chr22:20566712-20566712;G/C missense_variant False MED15@p.Q193H 1 0.538461538 ENSG00000099917 chr22:20564577-20564577;G/T missense_variant False MED15@p.P545H 1 0.5 ENSG00000099917 chr22:20583209-20583209;C/A missense_variant False MED15@p.M27I 1 0.11627907 ENSG00000099917 chr22:20537129-20537129;G/A missense_variant False MED15@p.G95E 1 0.297297297 ENSG00000099917 chr22:20554981-20554981;G/A missense_variant False MED17@p.L387F 1 0.056338028 ENSG00000042429 chr11:93797552-93797552;G/C missense_variant False MED19@p.R164H 1 0.206896552 ENSG00000156603 chr11:57704799-57704799;C/T missense_variant False MED1@p.E8K 1 0.106870229 ENSG00000125686 chr17:39451041-39451041;C/T missense_variant False MED1@p.H1526D 1 0.18852459 ENSG00000125686 chr17:39407645-39407645;G/C missense_variant False MED1@p.K202N 1 0.416326531 ENSG00000125686 chr17:39431158-39431158;C/G missense_variant False MED1@p.K283T 1 0.470588235 ENSG00000125686 chr17:39424630-39424630;T/G missense_variant False MED1@p.L305F 1 0.075471698 ENSG00000125686 chr17:39423758-39423758;C/G missense_variant False MED1@p.L69I 1 0.15 ENSG00000125686 chr17:39443556-39443556;G/T missense_variant False MED1@p.M1172I 1 0.130434783 ENSG00000125686 chr17:39408705-39408705;C/T missense_variant False MED1@p.P381A 1 0.263736264 ENSG00000125686 chr17:39419873-39419873;G/C missense_variant False MED1@p.S1111L 1 0.138888889 ENSG00000125686 chr17:39408889-39408889;G/A missense_variant False MED1@p.S1218C 1 0.550724638 ENSG00000125686 chr17:39408568-39408568;G/C missense_variant False MED1@p.S1227L 1 0.233333333 ENSG00000125686 chr17:39408541-39408541;G/A missense_variant False MED1@p.S1368F 1 0.089041096 ENSG00000125686 chr17:39408118-39408118;G/A missense_variant False MED1@p.S1379L 1 0.395522388 ENSG00000125686 chr17:39408085-39408085;G/A missense_variant False MED1@p.S1439F 1 0.087591241 ENSG00000125686 chr17:39407905-39407905;G/A missense_variant False MED1@p.S349L 1 0.376470588 ENSG00000125686 chr17:39423376-39423376;G/A missense_variant False METAP1D@p.D72H 1 0.1 ENSG00000172878 chr2:172063726-172063726;G/C missense_variant False METAP1D@p.H25Y 1 0.231788079 ENSG00000172878 chr2:172061530-172061530;C/T missense_variant False MED12@p.E1652K 1 0.875 ENSG00000184634 chrX:71135182-71135182;G/A missense_variant True MGA@p.L886F 1 0.146892655 ENSG00000174197 chr15:41710923-41710923;G/C missense_variant False MGA@p.S1941C 1 0.223880597 ENSG00000174197 chr15:41749429-41749429;C/G missense_variant False MGA@p.S1398C 1 0.223684211 ENSG00000174197 chr15:41736457-41736457;C/G missense_variant False MGA@p.R134C 1 0.338942308 ENSG00000174197 chr15:41669294-41669294;C/T missense_variant False MGA@p.Q2737H 1 0.473684211 ENSG00000174197 chr15:41766293-41766293;G/C missense_variant False MGA@p.Q246E 1 0.483870968 ENSG00000174197 chr15:41669630-41669630;C/G missense_variant False MGA@p.Q2107E 1 0.227272727 ENSG00000174197 chr15:41749926-41749926;C/G missense_variant False MGA@p.L1966Ffs*3 1 0.282608696 ENSG00000174197 chr15:41749501-41749501;C/- frameshift_variant False MGA@p.S913L 1 0.270833333 ENSG00000174197 chr15:41711003-41711003;C/T missense_variant False MGA@p.K2532N 1 0.269230769 ENSG00000174197 chr15:41762214-41762214;G/C missense_variant False MGA@p.K1248T 1 0.285714286 ENSG00000174197 chr15:41729249-41729249;A/C missense_variant False MGA@p.H1445Y 1 0.225806452 ENSG00000174197 chr15:41736597-41736597;C/T missense_variant False MGA@p.G2709C 1 0.485714286 ENSG00000174197 chr15:41766207-41766207;G/T missense_variant False MGA@p.E504K 1 0.144736842 ENSG00000174197 chr15:41696520-41696520;G/A missense_variant False MGA@p.E2760D 1 0.181818182 ENSG00000174197 chr15:41766362-41766362;G/C missense_variant False MGA@p.S2620C 1 0.06626506 ENSG00000174197 chr15:41765000-41765000;C/G missense_variant False MGA@p.T958S 1 0.20610687 ENSG00000174197 chr15:41711138-41711138;C/G missense_variant False METAP1D@p.K69R 1 0.185185185 ENSG00000172878 chr2:172063718-172063718;A/G missense_variant False MGAM@p.S1515C 1 0.375 ENSG00000257335 chr7:142065394-142065394;C/G missense_variant False MGAT1@p.Q337H 1 0.743589744 ENSG00000131446 chr5:180791961-180791961;C/A missense_variant False MGAT1@p.Q141H 1 0.36 ENSG00000131446 chr5:180792549-180792549;C/A missense_variant False MGAT1@p.D142Y 1 0.352941176 ENSG00000131446 chr5:180792548-180792548;C/A missense_variant False MGARP@p.E200Q 1 0.091954023 ENSG00000137463 chr4:139266724-139266724;C/G missense_variant False MGARP@p.E186Q 1 0.202531646 ENSG00000137463 chr4:139266766-139266766;C/G missense_variant False MGAM@p.Y1241H 1 0.063241107 ENSG00000257335 chr7:142058230-142058230;T/C missense_variant False MGAM@p.S1004F 1 0.079710145 ENSG00000257335 chr7:142052836-142052836;C/T missense_variant False MGAM@p.A843D 1 0.40625 ENSG00000257335 chr7:142047814-142047814;C/A missense_variant False MGAM@p.R816Q 1 0.338709677 ENSG00000257335 chr7:142040795-142040795;G/A missense_variant False MGAM@p.P78A 1 0.239130435 ENSG00000257335 chr7:142008610-142008610;C/G missense_variant False MGAM@p.L905F 1 0.31147541 ENSG00000257335 chr7:142050772-142050772;C/T missense_variant False MGAM@p.L213F 1 0.202380952 ENSG00000257335 chr7:142021666-142021666;G/C missense_variant False MGAM@p.G1014E 1 0.164383562 ENSG00000257335 chr7:142052866-142052866;G/A missense_variant False MGAM@p.E515Q 1 0.161904762 ENSG00000257335 chr7:142031752-142031752;G/C missense_variant False MGA@p.E1971K 1 0.333333333 ENSG00000174197 chr15:41749518-41749518;G/A missense_variant False MGA@p.D869H 1 0.344262295 ENSG00000174197 chr15:41710870-41710870;G/C missense_variant False MGA@p.D2895N 1 0.252747253 ENSG00000174197 chr15:41766765-41766765;G/A missense_variant False MFSD5@p.E435Q 1 0.185185185 ENSG00000182544 chr12:53254138-53254138;G/C missense_variant False MFSD6@p.S304Y 1 0.34351145 ENSG00000151690 chr2:190436940-190436940;C/A missense_variant False MFSD6@p.R664G 1 0.087912088 ENSG00000151690 chr2:190497537-190497537;C/G missense_variant False MFSD6@p.P563S 1 0.369565217 ENSG00000151690 chr2:190488713-190488713;C/T missense_variant False MFSD6@p.D652N 1 0.754152824 ENSG00000151690 chr2:190497501-190497501;G/A missense_variant False MFSD5@p.S15Y 1 0.390909091 ENSG00000182544 chr12:53252879-53252879;C/A missense_variant False MFSD5@p.E443K 1 0.235294118 ENSG00000182544 chr12:53254162-53254162;G/A missense_variant False MFSD5@p.A375T 1 0.351724138 ENSG00000182544 chr12:53253958-53253958;G/A missense_variant False MGA@p.D2665Y 1 0.181818182 ENSG00000174197 chr15:41766075-41766075;G/T missense_variant False MFSD4A@p.M373I 1 0.276190476 ENSG00000174514 chr1:205586177-205586177;G/A missense_variant False MFSD4A@p.F355L 1 0.954545455 ENSG00000174514 chr1:205586123-205586123;C/G missense_variant False MFSD3@p.I316M 1 0.178571429 ENSG00000167700 chr8:144510715-144510715;C/G missense_variant False MFSD2B@p.V52G 1 0.285714286 ENSG00000205639 chr2:24013343-24013343;T/G missense_variant False MFSD2B@p.D95N 1 0.178082192 ENSG00000205639 chr2:24016216-24016216;G/A missense_variant False MFSD2A@p.E533K 1 0.677419355 ENSG00000168389 chr1:39969533-39969533;G/A missense_variant False MFSD6L@p.A59S 1 0.147540984 ENSG00000185156 chr17:8798946-8798946;C/A missense_variant False MFSD6L@p.D268H 1 0.142857143 ENSG00000185156 chr17:8798319-8798319;C/G missense_variant False MFSD6L@p.I302M 1 0.15 ENSG00000185156 chr17:8798215-8798215;G/C missense_variant False MFSD6L@p.I541K 1 0.4 ENSG00000185156 chr17:8797499-8797499;A/T missense_variant False MFSD6L@p.M393I 1 0.14516129 ENSG00000185156 chr17:8797942-8797942;C/T missense_variant False MFSD8@p.E319K 1 0.287128713 ENSG00000164073 chr4:127930726-127930726;C/T missense_variant False MFSD8@p.G145A 1 0.15 ENSG00000164073 chr4:127943757-127943757;C/G missense_variant False MFSD8@p.L107V 1 0.290322581 ENSG00000164073 chr4:127943872-127943872;G/C missense_variant False MFSD8@p.L96Qfs*11 1 0.123188406 ENSG00000164073 chr4:127943887-127943905;GTCTATAATTAGACCATAA/- frameshift_variant False MFSD8@p.M57L 1 0.368 ENSG00000164073 chr4:127949833-127949833;T/A missense_variant False MFSD8@p.R505T 1 0.546875 ENSG00000164073 chr4:127920673-127920673;C/G missense_variant False MFSD9@p.G127R 1 0.530612245 ENSG00000135953 chr2:102726893-102726893;C/G missense_variant False MFSD9@p.G29E 1 0.425925926 ENSG00000135953 chr2:102736725-102736725;C/T missense_variant False MFSD9@p.S385T 1 0.2 ENSG00000135953 chr2:102718692-102718692;A/T missense_variant False MGA@p.A2956S 1 0.4 ENSG00000174197 chr15:41766948-41766948;G/T missense_variant False MGA@p.D1302H 1 0.24 ENSG00000174197 chr15:41734582-41734582;G/C missense_variant False MGA@p.D2332H 1 0.2 ENSG00000174197 chr15:41750601-41750601;G/C missense_variant False MGAT1@p.R201C 1 0.290909091 ENSG00000131446 chr5:180792371-180792371;G/A missense_variant False MGAT1@p.R223W 1 0.365079365 ENSG00000131446 chr5:180792305-180792305;G/A missense_variant False MGAT1@p.S131L 1 0.229885057 ENSG00000131446 chr5:180792580-180792580;G/A missense_variant False MGST3@p.R114Q 1 0.261904762 ENSG00000143198 chr1:165655386-165655386;G/A missense_variant False MIA2@p.K399N 1 0.15 ENSG00000150527 chr14:39313343-39313343;A/T missense_variant False MIA2@p.I421Dfs*6 1 0.125 ENSG00000150527 chr14:39313401-39313402;-/A frameshift_variant False MIA2@p.G716A 1 0.181372549 ENSG00000150527 chr14:39348876-39348876;G/C missense_variant False MIA2@p.E660K 1 0.078431373 ENSG00000150527 chr14:39347736-39347736;G/A missense_variant False MIA2@p.E536K 1 0.385714286 ENSG00000150527 chr14:39252786-39252786;G/A missense_variant False MIA2@p.E261D 1 0.428571429 ENSG00000150527 chr14:39247357-39247357;G/T missense_variant False MGST2@p.Q18E 1 0.340909091 ENSG00000085871 chr4:139666071-139666071;C/G missense_variant False MGME1@p.W252C 1 0.507042254 ENSG00000125871 chr20:17988190-17988190;G/C missense_variant False MGST1@p.L142V 1 0.280701754 ENSG00000008394 chr12:16363997-16363997;C/G missense_variant False MGRN1@p.S233F 1 0.305555556 ENSG00000102858 chr16:4668284-4668284;C/T missense_variant False MGRN1@p.R530Q 1 0.315789474 ENSG00000102858 chr16:4683903-4683903;G/A missense_variant False MGRN1@p.N258I 1 0.318181818 ENSG00000102858 chr16:4671437-4671437;A/T missense_variant False MGRN1@p.E207_G208dup 1 0.4 ENSG00000102858 chr16:4664765-4664766;-/GAAGGA inframe_insertion False MGMT@p.H177D 1 0.583333333 ENSG00000170430 chr10:129766809-129766809;C/G missense_variant False MIA2@p.L595V 1 0.14893617 ENSG00000150527 chr14:39326974-39326974;C/G missense_variant False MIA2@p.P518Hfs*65 1 0.171717172 ENSG00000150527 chr14:39320934-39320934;C/- frameshift_variant False MIA2@p.Q160K 1 0.333333333 ENSG00000150527 chr14:39247052-39247052;C/A missense_variant False MIA2@p.Q390E 1 0.368421053 ENSG00000150527 chr14:39308562-39308562;C/G missense_variant False MIA2@p.S526C 1 0.494505495 ENSG00000150527 chr14:39252757-39252757;C/G missense_variant False MIA2@p.S590C 1 0.0625 ENSG00000150527 chr14:39326960-39326960;C/G missense_variant False MIA2@p.S83C 1 0.423728814 ENSG00000150527 chr14:39279479-39279479;C/G missense_variant False MIA2@p.T510A 1 0.239130435 ENSG00000150527 chr14:39248102-39248102;A/G missense_variant False MIA2@p.Y734C 1 0.189655172 ENSG00000150527 chr14:39348930-39348930;A/G missense_variant False MIA3@p.A599G 1 0.105769231 ENSG00000154305 chr1:222629016-222629016;C/G missense_variant False MIA3@p.D1430H 1 0.217948718 ENSG00000154305 chr1:222653306-222653306;G/C missense_variant False MIA3@p.D438N 1 0.046357616 ENSG00000154305 chr1:222628532-222628532;G/A missense_variant False MIA3@p.D832N 1 0.211538462 ENSG00000154305 chr1:222629714-222629714;G/A missense_variant False MIA3@p.E187Q 1 0.111111111 ENSG00000154305 chr1:222627779-222627779;G/C missense_variant False MIA3@p.E777K 1 0.252525253 ENSG00000154305 chr1:222629549-222629549;G/A missense_variant False MIA3@p.K1070N 1 0.32183908 ENSG00000154305 chr1:222632205-222632205;G/T missense_variant False MIA3@p.N746Kfs*10 1 0.144927536 ENSG00000154305 chr1:222629450-222629451;-/A frameshift_variant False MGMT@p.G231C 1 0.307692308 ENSG00000170430 chr10:129766971-129766971;G/T missense_variant False MGME1@p.M3I 1 0.139534884 ENSG00000125871 chr20:17969868-17969868;G/A missense_variant False MGAT1@p.S154C 1 0.430769231 ENSG00000131446 chr5:180792511-180792511;G/C missense_variant False MGAT4A@p.E40K 1 0.171428571 ENSG00000071073 chr2:98678448-98678448;C/T missense_variant False MGAT4C@p.D218N 1 0.222222222 ENSG00000182050 chr12:85980074-85980074;C/T missense_variant False MGAT4B@p.T205M 1 0.157894737 ENSG00000161013 chr5:179800589-179800589;G/A missense_variant False MGAT4B@p.R393W 1 0.426035503 ENSG00000161013 chr5:179799094-179799094;G/A missense_variant False MGAT4A@p.L83F 1 0.139534884 ENSG00000071073 chr2:98678317-98678317;C/G missense_variant False MGAT4A@p.G6E 1 0.270833333 ENSG00000071073 chr2:98726316-98726316;C/T missense_variant False MGAT4A@p.E40V 1 0.179245283 ENSG00000071073 chr2:98678447-98678447;T/A missense_variant False MGAT4A@p.E119Q 1 0.447761194 ENSG00000071073 chr2:98675083-98675083;C/G missense_variant False MGME1@p.E74Q 1 0.188679245 ENSG00000125871 chr20:17970079-17970079;G/C missense_variant False MGAT4A@p.D183Mfs*6 1 0.142857143 ENSG00000071073 chr2:98658252-98658255;AATC/- frameshift_variant False MGAT3@p.P137S 1 0.444444444 ENSG00000128268 chr22:39487756-39487756;C/T missense_variant False MGAT3@p.F218L 1 0.212121212 ENSG00000128268 chr22:39488001-39488001;C/A missense_variant False MGAT3@p.E91K 1 0.2 ENSG00000128268 chr22:39487618-39487618;G/A missense_variant False MGAT2@p.D192N 1 0.264367816 ENSG00000168282 chr14:49621842-49621842;G/A missense_variant False MGAT1@p.Y155C 1 0.385826772 ENSG00000131446 chr5:180792508-180792508;T/C missense_variant False MGAT4C@p.D404H 1 0.326086957 ENSG00000182050 chr12:85979516-85979516;C/G missense_variant False MGAT4C@p.G113V 1 0.5 ENSG00000182050 chr12:85980388-85980388;C/A missense_variant False MGAT4C@p.H407L 1 0.141025641 ENSG00000182050 chr12:85979506-85979506;T/A missense_variant False MGAT4C@p.S374T 1 0.096774194 ENSG00000182050 chr12:85979606-85979606;A/T missense_variant False MGAT5@p.D352N 1 0.10982659 ENSG00000152127 chr2:134345006-134345006;G/A missense_variant False MGAT5@p.E644K 1 0.120689655 ENSG00000152127 chr2:134441818-134441818;G/A missense_variant False MGAT5@p.L18V 1 0.173913043 ENSG00000152127 chr2:134254455-134254455;C/G missense_variant False MGAT5@p.S44F 1 0.142857143 ENSG00000152127 chr2:134254534-134254534;C/T missense_variant False MGAT5B@p.A266V 1 0.203703704 ENSG00000167889 chr17:76905275-76905275;C/T missense_variant False MGAT5B@p.D7N 1 0.404580153 ENSG00000167889 chr17:76869048-76869048;G/A missense_variant False MGAT5B@p.F552L 1 0.076923077 ENSG00000167889 chr17:76940473-76940473;C/A missense_variant False MGAT5B@p.F715L 1 0.457142857 ENSG00000167889 chr17:76948051-76948051;C/A missense_variant False MGAT5B@p.K248R 1 0.433333333 ENSG00000167889 chr17:76905221-76905221;A/G missense_variant False MGAT5B@p.P227L 1 0.444444444 ENSG00000167889 chr17:76904412-76904412;C/T missense_variant False MGAT5B@p.Q373H 1 0.384615385 ENSG00000167889 chr17:76925059-76925059;G/C missense_variant False MGLL@p.E154Q 1 0.237704918 ENSG00000074416 chr3:127721073-127721073;C/G missense_variant False MGLL@p.F31L 1 0.12 ENSG00000074416 chr3:127821726-127821726;G/C missense_variant False MFSD2A@p.E188K 1 0.591836735 ENSG00000168389 chr1:39965516-39965516;G/A missense_variant False MFSD1@p.M346I 1 0.166666667 ENSG00000118855 chr3:158822101-158822101;G/A missense_variant False MFSD1@p.L335F 1 0.47761194 ENSG00000118855 chr3:158822066-158822066;C/T missense_variant False METTL3@p.D453N 1 0.28440367 ENSG00000165819 chr14:21499587-21499587;C/T missense_variant False METTL3@p.F316L 1 0.411764706 ENSG00000165819 chr14:21501081-21501081;G/C missense_variant False METTL3@p.E532Q 1 0.245614035 ENSG00000165819 chr14:21499062-21499062;C/G missense_variant False METTL3@p.E532K 1 0.213483146 ENSG00000165819 chr14:21499062-21499062;C/T missense_variant False METTL3@p.E454K 1 0.663265306 ENSG00000165819 chr14:21499584-21499584;C/T missense_variant False METTL3@p.E262K 1 0.287356322 ENSG00000165819 chr14:21501843-21501843;C/T missense_variant False METTL3@p.D515Y 1 0.133333333 ENSG00000165819 chr14:21499113-21499113;C/A missense_variant False METTL2B@p.S179L 1 0.194915254 ENSG00000165055 chr7:128479491-128479491;C/T missense_variant False METTL27@p.G77S 1 0.25 ENSG00000165171 chr7:73841093-73841093;C/T missense_variant False METTL2B@p.S178F 1 0.145631068 ENSG00000165055 chr7:128479488-128479488;C/T missense_variant False METTL2B@p.Q200R 1 0.297520661 ENSG00000165055 chr7:128480687-128480687;A/G missense_variant False METTL2B@p.D167N 1 0.166666667 ENSG00000165055 chr7:128479454-128479454;G/A missense_variant False METTL2A@p.S178F 1 0.379310345 ENSG00000087995 chr17:62426629-62426629;C/T missense_variant False METTL2A@p.G319E 1 0.424137931 ENSG00000087995 chr17:62447740-62447740;G/A missense_variant False METTL2A@p.F325L 1 0.408114558 ENSG00000087995 chr17:62447759-62447759;C/A missense_variant False METTL3@p.H512Q 1 0.705882353 ENSG00000165819 chr14:21499120-21499120;A/C missense_variant False METTL3@p.N318I 1 0.271186441 ENSG00000165819 chr14:21501076-21501076;T/A missense_variant False METTL3@p.P514T 1 0.434782609 ENSG00000165819 chr14:21499116-21499116;G/T missense_variant False METTL3@p.P94L 1 0.081081081 ENSG00000165819 chr14:21503701-21503701;G/A missense_variant False METTL3@p.R468Nfs*30 1 0.330827068 ENSG00000165819 chr14:21499531-21499542;ACGGCCTGTCCG/T frameshift_variant False METTL3@p.R468Q 1 0.093457944 ENSG00000165819 chr14:21499541-21499541;C/T missense_variant False METTL3@p.R471H 1 0.875 ENSG00000165819 chr14:21499532-21499532;C/T missense_variant False METTL3@p.S193L 1 0.391891892 ENSG00000165819 chr14:21503318-21503318;G/A missense_variant False METTL4@p.E353Q 1 0.24822695 ENSG00000101574 chr18:2547372-2547372;C/G missense_variant False METTL4@p.F365C 1 0.217391304 ENSG00000101574 chr18:2544740-2544740;A/C missense_variant False METTL4@p.S56C 1 0.085106383 ENSG00000101574 chr18:2567050-2567050;G/C missense_variant False METTL4@p.S8L 1 0.125 ENSG00000101574 chr18:2567194-2567194;G/A missense_variant False METTL5@p.D49Y 1 0.201877934 ENSG00000138382 chr2:169822022-169822022;C/A missense_variant False METTL5@p.K7E 1 0.116666667 ENSG00000138382 chr2:169824579-169824579;T/C missense_variant False METTL6@p.D224N 1 0.365853659 ENSG00000206562 chr3:15414024-15414024;C/T missense_variant False METTL6@p.H164Y 1 0.185365854 ENSG00000206562 chr3:15415813-15415813;G/A missense_variant False METTL6@p.K43R 1 0.155405405 ENSG00000206562 chr3:15426384-15426384;T/C missense_variant False METTL2A@p.D167N 1 0.368421053 ENSG00000087995 chr17:62426595-62426595;G/A missense_variant False METTL25@p.S74L 1 0.387096774 ENSG00000127720 chr12:82358786-82358786;C/T missense_variant False METTL7A@p.E179Q 1 0.225925926 ENSG00000185432 chr12:50929950-50929950;G/C missense_variant False A1BG@p.G246R 1 0.174603175 ENSG00000121410 chr19:58351565-58351565;C/T missense_variant False METTL18@p.D224H 1 0.160377358 ENSG00000171806 chr1:169793026-169793026;C/G missense_variant False METTL17@p.E152K 1 0.236842105 ENSG00000165792 chr14:20992548-20992548;G/A missense_variant False METTL17@p.A301G 1 0.349056604 ENSG00000165792 chr14:20995190-20995190;C/G missense_variant False METTL16@p.P268R 1 0.068965517 ENSG00000127804 chr17:2438194-2438194;G/C missense_variant False METTL14@p.L385F 1 0.561403509 ENSG00000145388 chr4:118710086-118710086;G/C missense_variant False METTL14@p.I204M 1 0.265306122 ENSG00000145388 chr4:118697290-118697290;C/G missense_variant False METTL14@p.E197K 1 0.388888889 ENSG00000145388 chr4:118697267-118697267;G/A missense_variant False METTL25@p.S357L 1 0.425531915 ENSG00000127720 chr12:82399333-82399333;C/T missense_variant False METTL14@p.D312N 1 0.345238095 ENSG00000145388 chr4:118705689-118705689;G/A missense_variant False METTL14@p.D301N 1 0.227272727 ENSG00000145388 chr4:118705656-118705656;G/A missense_variant False METTL14@p.D125E 1 0.272727273 ENSG00000145388 chr4:118692031-118692031;C/A missense_variant False METAP2@p.F387V 1 0.416666667 ENSG00000111142 chr12:95512891-95512891;T/G missense_variant False METAP2@p.E425Q 1 0.192771084 ENSG00000111142 chr12:95513740-95513740;G/C missense_variant False METAP2@p.D274N 1 0.251851852 ENSG00000111142 chr12:95496051-95496051;G/A missense_variant False METTL18@p.D300N 1 0.205479452 ENSG00000171806 chr1:169792798-169792798;C/T missense_variant False METTL18@p.G209R 1 0.227272727 ENSG00000171806 chr1:169793071-169793071;C/T missense_variant False METTL18@p.S293L 1 0.323529412 ENSG00000171806 chr1:169792818-169792818;G/A missense_variant False METTL21A@p.E208K 1 0.229166667 ENSG00000144401 chr2:207613081-207613081;C/T missense_variant False METTL21C@p.D230E 1 0.489361702 ENSG00000139780 chr13:102686136-102686136;G/C missense_variant False METTL21C@p.K47N 1 0.107526882 ENSG00000139780 chr13:102690954-102690954;C/G missense_variant False METTL23@p.D95H 1 0.441176471 ENSG00000181038 chr17:76733176-76733176;G/C missense_variant False METTL23@p.E142K 1 0.216666667 ENSG00000181038 chr17:76733537-76733537;G/A missense_variant False METTL23@p.H57Y 1 0.333333333 ENSG00000181038 chr17:76733062-76733062;C/T missense_variant False METTL23@p.M150I 1 0.5 ENSG00000181038 chr17:76733563-76733563;G/A missense_variant False METTL24@p.H333Y 1 0.126315789 ENSG00000053328 chr6:110246050-110246050;G/A missense_variant False METTL24@p.L266F 1 0.297297297 ENSG00000053328 chr6:110246251-110246251;G/A missense_variant False METTL24@p.Q242R 1 0.126582278 ENSG00000053328 chr6:110298983-110298983;T/C missense_variant False METTL25@p.E335K 1 0.06557377 ENSG00000127720 chr12:82399266-82399266;G/A missense_variant False METTL25@p.E419K 1 0.073170732 ENSG00000127720 chr12:82403106-82403106;G/A missense_variant False METTL25@p.E83K 1 0.487179487 ENSG00000127720 chr12:82358812-82358812;G/A missense_variant False METTL25@p.P78S 1 0.092592593 ENSG00000127720 chr12:82358797-82358797;C/T missense_variant False METTL6@p.P113S 1 0.123287671 ENSG00000206562 chr3:15424978-15424978;G/A missense_variant False METTL7A@p.L157F 1 0.306451613 ENSG00000185432 chr12:50925507-50925507;C/T missense_variant False MFSD1@p.K260T 1 0.364864865 ENSG00000118855 chr3:158820242-158820242;A/C missense_variant False MFN1@p.I520L 1 0.101123596 ENSG00000171109 chr3:179378710-179378710;A/C missense_variant False MFRP@p.S164C 1 0.35 ENSG00000235718 chr11:119341669-119341669;G/C missense_variant False MFRP@p.F140V 1 0.128205128 ENSG00000235718 chr11:119341742-119341742;A/C missense_variant False MFN2@p.R384G 1 0.214953271 ENSG00000116688 chr1:12002093-12002093;C/G missense_variant False MFN2@p.Q512E 1 0.208955224 ENSG00000116688 chr1:12005749-12005749;C/G missense_variant False MFN2@p.N161D 1 0.928571429 ENSG00000116688 chr1:11997303-11997303;A/G missense_variant False MFN1@p.S410L 1 0.322916667 ENSG00000171109 chr3:179377348-179377348;C/T missense_variant False MFN1@p.F281V 1 0.607843137 ENSG00000171109 chr3:179367526-179367526;T/G missense_variant False MFHAS1@p.E548Q 1 0.366666667 ENSG00000147324 chr8:8891417-8891417;C/G missense_variant False MFN1@p.E725Q 1 0.304347826 ENSG00000171109 chr3:179392006-179392006;G/C missense_variant False MFN1@p.D23N 1 0.19266055 ENSG00000171109 chr3:179348918-179348918;G/A missense_variant False MFN1@p.D193H 1 0.076923077 ENSG00000171109 chr3:179364337-179364337;G/C missense_variant False MFHAS1@p.S885R 1 0.428571429 ENSG00000147324 chr8:8890406-8890406;T/G missense_variant False MFHAS1@p.R661Q 1 0.5 ENSG00000147324 chr8:8891077-8891077;C/T missense_variant False MFHAS1@p.R1007K 1 0.7 ENSG00000147324 chr8:8797470-8797470;C/T missense_variant False MFSD10@p.S111C 1 0.19047619 ENSG00000109736 chr4:2933146-2933146;G/C missense_variant False MFSD11@p.L186V 1 0.315068493 ENSG00000092931 chr17:76744381-76744381;C/G missense_variant False MFSD11@p.N218S 1 0.351351351 ENSG00000092931 chr17:76754058-76754058;A/G missense_variant False MFSD11@p.R169P 1 0.376344086 ENSG00000092931 chr17:76744331-76744331;G/C missense_variant False MFSD11@p.R191W 1 0.396039604 ENSG00000092931 chr17:76744396-76744396;C/T missense_variant False MFSD12@p.E165Q 1 0.391304348 ENSG00000161091 chr19:3551000-3551000;C/G missense_variant False MFSD12@p.T167M 1 0.585365854 ENSG00000161091 chr19:3550993-3550993;G/A missense_variant False MFSD12@p.Y131C 1 0.161290323 ENSG00000161091 chr19:3551101-3551101;T/C missense_variant False MFSD13A@p.S176Cfs*43 1 0.114942529 ENSG00000138111 chr10:102470936-102470937;CT/- frameshift_variant False MFSD14A@p.D243H 1 0.304761905 ENSG00000156875 chr1:100068494-100068494;G/C missense_variant False MFSD14A@p.I177V 1 0.191489362 ENSG00000156875 chr1:100068019-100068019;A/G missense_variant False MFSD14A@p.L269Ffs*43 1 0.333333333 ENSG00000156875 chr1:100068565-100068566;-/T frameshift_variant False MFSD14A@p.P233R 1 0.142857143 ENSG00000156875 chr1:100068188-100068188;C/G missense_variant False MFSD14B@p.L91V 1 0.370967742 ENSG00000148110 chr9:94438404-94438404;C/G missense_variant False MFSD14B@p.S190P 1 0.076923077 ENSG00000148110 chr9:94445021-94445021;T/C missense_variant False MFSD14B@p.S93Y 1 0.720588235 ENSG00000148110 chr9:94438411-94438411;C/A missense_variant False MFSD1@p.E18K 1 0.2 ENSG00000118855 chr3:158802204-158802204;G/A missense_variant False MFHAS1@p.E80K 1 0.555555556 ENSG00000147324 chr8:8892821-8892821;C/T missense_variant False MFHAS1@p.D600H 1 0.058333333 ENSG00000147324 chr8:8891261-8891261;C/G missense_variant False MEX3A@p.E146D 1 0.307692308 ENSG00000254726 chr1:156081561-156081561;C/G missense_variant False MEX3C@p.G476E 1 0.294117647 ENSG00000176624 chr18:51176904-51176904;C/T missense_variant False MFAP1@p.E254K 1 0.166666667 ENSG00000140259 chr15:43813114-43813114;C/T missense_variant False MFAP1@p.E214K 1 0.576923077 ENSG00000140259 chr15:43813335-43813335;C/T missense_variant False MFAP1@p.D367N 1 0.375 ENSG00000140259 chr15:43805414-43805414;C/T missense_variant False MEX3D@p.S188C 1 0.384615385 ENSG00000181588 chr19:1567496-1567496;G/C missense_variant False MEX3D@p.D313N 1 0.3 ENSG00000181588 chr19:1556582-1556582;C/T missense_variant False MEX3C@p.I349V 1 0.212121212 ENSG00000176624 chr18:51177286-51177286;T/C missense_variant False MEX3B@p.S506Y 1 0.217391304 ENSG00000183496 chr15:82043353-82043353;G/T missense_variant False MFGE8@p.P199S 1 0.239726027 ENSG00000140545 chr15:88905847-88905847;G/A missense_variant False MEX3B@p.S322* 1 0.261904762 ENSG00000183496 chr15:82043907-82043908;-/G frameshift_variant False MEX3B@p.G173R 1 0.182926829 ENSG00000183496 chr15:82044353-82044353;C/G missense_variant False MEX3A@p.S407C 1 0.5 ENSG00000254726 chr1:156076917-156076917;G/C missense_variant False MEX3A@p.R335W 1 0.507407407 ENSG00000254726 chr1:156077134-156077134;G/A missense_variant False MEX3A@p.E283K 1 0.186440678 ENSG00000254726 chr1:156077290-156077290;C/T missense_variant False MEX3A@p.E198K 1 0.272727273 ENSG00000254726 chr1:156077545-156077545;C/T missense_variant False MFAP1@p.E32K 1 0.295238095 ENSG00000140259 chr15:43817434-43817434;C/T missense_variant False MFAP1@p.E95K 1 0.159793814 ENSG00000140259 chr15:43817245-43817245;C/T missense_variant False MFAP1@p.K43R 1 0.125 ENSG00000140259 chr15:43817400-43817400;T/C missense_variant False MFAP2@p.V33I 1 0.30952381 ENSG00000117122 chr1:16977139-16977139;C/T missense_variant False MFAP3@p.E186K 1 0.109756098 ENSG00000037749 chr5:154053180-154053180;G/A missense_variant False MFAP3@p.L74F 1 0.341176471 ENSG00000037749 chr5:154049942-154049942;C/T missense_variant False MFAP3@p.M147I 1 0.355555556 ENSG00000037749 chr5:154053065-154053065;G/C missense_variant False MFAP3@p.R131C 1 0.425925926 ENSG00000037749 chr5:154053015-154053015;C/T missense_variant False MFAP3@p.S331C 1 0.320512821 ENSG00000037749 chr5:154053616-154053616;C/G missense_variant False MFAP5@p.S154F 1 0.493506494 ENSG00000197614 chr12:8648152-8648152;G/A missense_variant False MFF@p.D286H 1 0.370967742 ENSG00000168958 chr2:227355720-227355720;G/C missense_variant False MFF@p.E81K 1 0.243902439 ENSG00000168958 chr2:227330828-227330828;G/A missense_variant False MFF@p.R152T 1 0.625 ENSG00000168958 chr2:227340317-227340317;G/C missense_variant False MFGE8@p.A307S 1 0.106060606 ENSG00000140545 chr15:88899763-88899763;C/A missense_variant False MFGE8@p.D124N 1 0.53125 ENSG00000140545 chr15:88907212-88907212;C/T missense_variant False MFGE8@p.K355N 1 0.424920128 ENSG00000140545 chr15:88899494-88899494;C/A missense_variant False MFGE8@p.L218V 1 0.166666667 ENSG00000140545 chr15:88905790-88905790;G/C missense_variant False MED12@p.E172Q 1 0.352941176 ENSG00000184634 chrX:71120131-71120131;G/C missense_variant True MED12@p.E141Q 1 0.527777778 ENSG00000184634 chrX:71120038-71120038;G/C missense_variant True MARK1@p.S558C 1 0.361111111 ENSG00000116141 chr1:220652087-220652087;C/G missense_variant False MBLAC1@p.A224V 1 0.483870968 ENSG00000214309 chr7:100128066-100128066;C/T missense_variant False MBNL1@p.R9W 1 0.225352113 ENSG00000152601 chr3:152300218-152300218;C/T missense_variant False MBLAC2@p.L120P 1 0.307692308 ENSG00000176055 chr5:90473934-90473934;A/G missense_variant False MBLAC1@p.S242L 1 0.266666667 ENSG00000214309 chr7:100128120-100128120;C/T missense_variant False MBLAC1@p.E200K 1 0.304347826 ENSG00000214309 chr7:100127993-100127993;G/A missense_variant False MBLAC1@p.D36N 1 0.5 ENSG00000214309 chr7:100127501-100127501;G/A missense_variant False MBLAC1@p.D260H 1 0.416666667 ENSG00000214309 chr7:100128173-100128173;G/C missense_variant False MBL2@p.I43M 1 0.1875 ENSG00000165471 chr10:52771507-52771507;G/C missense_variant False MBNL2@p.H235Y 1 0.297297297 ENSG00000139793 chr13:97346966-97346966;C/T missense_variant False MBIP@p.R333K 1 0.262195122 ENSG00000151332 chr14:36299120-36299120;C/T missense_variant False MBIP@p.E32K 1 0.219512195 ENSG00000151332 chr14:36320495-36320495;C/T missense_variant False MBIP@p.D198N 1 0.258823529 ENSG00000151332 chr14:36312004-36312004;C/T missense_variant False MBD6@p.T672Yfs*45 1 0.225806452 ENSG00000166987 chr12:57527150-57527151;-/C frameshift_variant False MBD6@p.S358L 1 0.25 ENSG00000166987 chr12:57526041-57526041;C/T missense_variant False MBD6@p.S325C 1 0.203703704 ENSG00000166987 chr12:57525942-57525942;C/G missense_variant False MBNL2@p.E33Q 1 0.106299213 ENSG00000139793 chr13:97276332-97276332;G/C missense_variant False MBNL2@p.S347F 1 0.344827586 ENSG00000139793 chr13:97391367-97391367;C/T missense_variant False MCF2L2@p.I268M 1 0.626373626 ENSG00000053524 chr3:183311722-183311722;G/C missense_variant False MBOAT7@p.L63F 1 0.068376068 ENSG00000125505 chr19:54188236-54188236;G/A missense_variant False MBTD1@p.Q379H 1 0.176870748 ENSG00000011258 chr17:51201679-51201679;C/G missense_variant False MBTD1@p.F351L 1 0.264705882 ENSG00000011258 chr17:51202711-51202711;G/C missense_variant False MBTD1@p.E213Q 1 0.417266187 ENSG00000011258 chr17:51203893-51203893;C/G missense_variant False MBP@p.G238E 1 0.449392713 ENSG00000197971 chr18:76988881-76988881;C/T missense_variant False MBOAT7@p.S53Y 1 0.489130435 ENSG00000125505 chr19:54188265-54188265;G/T missense_variant False MBOAT7@p.R424W 1 0.159090909 ENSG00000125505 chr19:54174193-54174193;G/A missense_variant False MBOAT7@p.E376K 1 0.539130435 ENSG00000125505 chr19:54174337-54174337;C/T missense_variant False MBNL3@p.D210V 1 0.985714286 ENSG00000076770 chrX:132390989-132390989;T/A missense_variant False MBOAT2@p.S53C 1 0.1 ENSG00000143797 chr2:8958560-8958560;G/C missense_variant False MBOAT2@p.R43Q 1 0.421875 ENSG00000143797 chr2:8958590-8958590;C/T missense_variant False MBOAT2@p.I438V 1 0.194805195 ENSG00000143797 chr2:8860638-8860638;T/C missense_variant False MBOAT2@p.F334L 1 0.1875 ENSG00000143797 chr2:8864220-8864220;G/C missense_variant False MBOAT1@p.L465V 1 0.382608696 ENSG00000172197 chr6:20102381-20102381;G/C missense_variant False MBNL3@p.G26E 1 0.196581197 ENSG00000076770 chrX:132439535-132439535;C/T missense_variant False MBD6@p.S292L 1 0.409090909 ENSG00000166987 chr12:57525843-57525843;C/T missense_variant False MBD6@p.P784Sfs*10 1 0.289855072 ENSG00000166987 chr12:57527956-57527957;-/AGCC frameshift_variant False MBD6@p.P67S 1 0.289473684 ENSG00000166987 chr12:57524805-57524805;C/T missense_variant False MBD1@p.I242Sfs*80 1 0.133333333 ENSG00000141644 chr18:50275669-50275669;G/- frameshift_variant False MBD3@p.Q103H 1 0.388059701 ENSG00000071655 chr19:1584639-1584639;C/G missense_variant False MBD3@p.K124N 1 0.215686275 ENSG00000071655 chr19:1584576-1584576;C/G missense_variant False MBD2@p.K161E 1 0.272727273 ENSG00000134046 chr18:54224079-54224079;T/C missense_variant False MBD1@p.V530I 1 0.426086957 ENSG00000141644 chr18:50272952-50272952;C/T missense_variant False MBD1@p.R248Afs*74 1 0.310810811 ENSG00000141644 chr18:50275650-50275650;G/- frameshift_variant False MBD1@p.K359_G364del 1 0.230769231 ENSG00000141644 chr18:50274239-50274256;TGCCCCCGAATTTGGGCT/- inframe_deletion False MBD1@p.G67D 1 0.733333333 ENSG00000141644 chr18:50277115-50277115;C/T missense_variant False MBD6@p.P67L 1 0.282051282 ENSG00000166987 chr12:57524806-57524806;C/T missense_variant False MBD1@p.E545Q 1 0.181818182 ENSG00000141644 chr18:50272907-50272907;C/G missense_variant False MBD1@p.C377R 1 0.219178082 ENSG00000141644 chr18:50274203-50274203;A/G missense_variant False MBD1@p.C344S 1 0.486486486 ENSG00000141644 chr18:50274302-50274302;A/T missense_variant False MB@p.E149K 1 0.333333333 ENSG00000198125 chr22:35607317-35607317;C/T missense_variant False MB21D2@p.R32W 1 0.31147541 ENSG00000180611 chr3:192917747-192917747;G/A missense_variant False MB21D2@p.G445R 1 0.251552795 ENSG00000180611 chr3:192798529-192798529;C/G missense_variant False MBD4@p.I151M 1 0.28313253 ENSG00000129071 chr3:129437191-129437191;G/C missense_variant False MBD4@p.N206K 1 0.105263158 ENSG00000129071 chr3:129437026-129437026;G/C missense_variant False MBD4@p.R92T 1 0.267206478 ENSG00000129071 chr3:129437780-129437780;C/G missense_variant False MBD5@p.E1406Q 1 0.22 ENSG00000204406 chr2:148490547-148490547;G/C missense_variant False MBD5@p.H153Y 1 0.323529412 ENSG00000204406 chr2:148468400-148468400;C/T missense_variant False MBD5@p.I453M 1 0.543859649 ENSG00000204406 chr2:148469302-148469302;T/G missense_variant False MBD5@p.L667F 1 0.301470588 ENSG00000204406 chr2:148469944-148469944;G/C missense_variant False MBD5@p.M310I 1 0.234234234 ENSG00000204406 chr2:148468873-148468873;G/C missense_variant False MBD5@p.P261S 1 0.326315789 ENSG00000204406 chr2:148468724-148468724;C/T missense_variant False MBD5@p.P265T 1 0.478632479 ENSG00000204406 chr2:148468736-148468736;C/A missense_variant False MBD5@p.R641Q 1 0.287128713 ENSG00000204406 chr2:148469865-148469865;G/A missense_variant False MBD6@p.A783Sfs*10 1 0.390243902 ENSG00000166987 chr12:57527948-57527949;-/G frameshift_variant False MBD6@p.A783T 1 0.375 ENSG00000166987 chr12:57527958-57527958;G/A missense_variant False MBD6@p.E524K 1 0.232758621 ENSG00000166987 chr12:57526715-57526715;G/A missense_variant False MBD6@p.G380R 1 0.480874317 ENSG00000166987 chr12:57526106-57526106;G/C missense_variant False MBD6@p.H249N 1 0.117073171 ENSG00000166987 chr12:57525713-57525713;C/A missense_variant False MBD6@p.P671Lfs*4 1 0.5 ENSG00000166987 chr12:57527151-57527151;C/- frameshift_variant False MBTD1@p.R303Q 1 0.158536585 ENSG00000011258 chr17:51202856-51202856;C/T missense_variant False MBTD1@p.R493C 1 0.302325581 ENSG00000011258 chr17:51192995-51192995;G/A missense_variant False MBTD1@p.V304I 1 0.71372549 ENSG00000011258 chr17:51202854-51202854;C/T missense_variant False MCCC1@p.E94K 1 0.545454545 ENSG00000078070 chr3:183086782-183086782;C/T missense_variant False MCCC1@p.R84K 1 0.247058824 ENSG00000078070 chr3:183092431-183092431;C/T missense_variant False MCCC1@p.R385T 1 0.051724138 ENSG00000078070 chr3:183041680-183041680;C/G missense_variant False MCCC1@p.R197T 1 0.287037037 ENSG00000078070 chr3:183071259-183071259;C/G missense_variant False MCCC1@p.G352V 1 0.1 ENSG00000078070 chr3:183045441-183045441;C/A missense_variant False MCCC1@p.G174A 1 0.363636364 ENSG00000078070 chr3:183071328-183071328;C/G missense_variant False MCCC1@p.G128A 1 0.155555556 ENSG00000078070 chr3:183072474-183072474;C/G missense_variant False MCCC1@p.E221Q 1 0.155844156 ENSG00000078070 chr3:183071099-183071099;C/G missense_variant False MCC@p.D110H 1 0.3 ENSG00000171444 chr5:113385055-113385055;C/G missense_variant False MCC@p.R394T 1 0.225 ENSG00000171444 chr5:113082893-113082893;C/G missense_variant False MCC@p.K780N 1 0.398907104 ENSG00000171444 chr5:113027452-113027452;C/G missense_variant False MCC@p.E72Q 1 0.157894737 ENSG00000171444 chr5:113143318-113143318;C/G missense_variant False MCC@p.E362K 1 0.277777778 ENSG00000171444 chr5:113082990-113082990;C/T missense_variant False MCC@p.E279K 1 0.195652174 ENSG00000171444 chr5:113085304-113085304;C/T missense_variant False MCC@p.E109K 1 0.333333333 ENSG00000171444 chr5:113122816-113122816;C/T missense_variant False MCCC1@p.V316A 1 0.104166667 ENSG00000078070 chr3:183052167-183052167;A/G missense_variant False MCCC2@p.E258K 1 0.461538462 ENSG00000131844 chr5:71632154-71632154;G/A missense_variant False MCCC2@p.E305Sfs*3 1 0.076923077 ENSG00000131844 chr5:71635157-71635179;ATTGAACCTTCTGAAGAGCCTTT/- frameshift_variant False MCCC2@p.H275Q 1 0.563380282 ENSG00000131844 chr5:71634964-71634964;C/A missense_variant False MCCC2@p.R86K 1 0.109090909 ENSG00000131844 chr5:71596340-71596340;G/A missense_variant False MCCC2@p.Y365C 1 0.30952381 ENSG00000131844 chr5:71643840-71643840;A/G missense_variant False MCCD1@p.S20F 1 0.280701754 ENSG00000204511 chr6:31529073-31529073;C/T missense_variant False MCEE@p.L137F 1 0.160714286 ENSG00000124370 chr2:71110090-71110090;C/G missense_variant False MCEE@p.S41C 1 0.791666667 ENSG00000124370 chr2:71124462-71124462;G/C missense_variant False MCF2@p.E777Q 1 0.325 ENSG00000101977 chrX:139589876-139589876;C/G missense_variant False MCF2@p.H197Y 1 0.234375 ENSG00000101977 chrX:139626291-139626291;G/A missense_variant False MCF2@p.I635T 1 0.161290323 ENSG00000101977 chrX:139598431-139598431;A/G missense_variant False MCF2@p.Q833E 1 0.28440367 ENSG00000101977 chrX:139587741-139587741;G/C missense_variant False MCF2@p.R38Q 1 0.984375 ENSG00000101977 chrX:139632393-139632393;C/T missense_variant False MCF2@p.V862E 1 0.365079365 ENSG00000101977 chrX:139586425-139586425;A/T missense_variant False MCF2L2@p.E1030D 1 0.439716312 ENSG00000053524 chr3:183180086-183180086;C/G missense_variant False MCF2L2@p.E58Q 1 0.722222222 ENSG00000053524 chr3:183379400-183379400;C/G missense_variant False MCC@p.D764H 1 0.147286822 ENSG00000171444 chr5:113028953-113028953;C/G missense_variant False MCAM@p.R267C 1 0.226190476 ENSG00000076706 chr11:119312589-119312589;G/A missense_variant False MBTPS1@p.D119H 1 0.180722892 ENSG00000140943 chr16:84099119-84099119;C/G missense_variant False MBTPS1@p.S411L 1 0.230769231 ENSG00000140943 chr16:84085037-84085037;G/A missense_variant False MBTPS2@p.S112F 1 0.108108108 ENSG00000012174 chrX:21845281-21845281;C/T missense_variant False MBTPS2@p.R66Q 1 0.676923077 ENSG00000012174 chrX:21843291-21843291;G/A missense_variant False MBTPS2@p.L93V 1 0.444444444 ENSG00000012174 chrX:21845223-21845223;C/G missense_variant False MBTPS2@p.L93Sfs*16 1 0.333333333 ENSG00000012174 chrX:21845216-21845217;-/T frameshift_variant False MBTPS2@p.D108N 1 0.121621622 ENSG00000012174 chrX:21845268-21845268;G/A missense_variant False MBTPS1@p.S71L 1 0.202531646 ENSG00000140943 chr16:84099262-84099262;G/A missense_variant False MBTPS1@p.S287C 1 0.246575342 ENSG00000140943 chr16:84091835-84091835;G/C missense_variant False MCAM@p.E620Q 1 0.155339806 ENSG00000076706 chr11:119310402-119310402;C/G missense_variant False MBTPS1@p.S171C 1 0.210227273 ENSG00000140943 chr16:84095715-84095715;G/C missense_variant False MBTPS1@p.Q580E 1 0.134020619 ENSG00000140943 chr16:84070632-84070632;G/C missense_variant False MBTPS1@p.P935A 1 0.303030303 ENSG00000140943 chr16:84059330-84059330;G/C missense_variant False MBTPS1@p.L410R 1 0.3 ENSG00000140943 chr16:84085040-84085040;A/C missense_variant False MBTPS1@p.L21V 1 0.345864662 ENSG00000140943 chr16:84101723-84101723;G/C missense_variant False MBTPS1@p.H906N 1 0.181818182 ENSG00000140943 chr16:84059417-84059417;G/T missense_variant False MC1R@p.F257L 1 0.154929577 ENSG00000258839 chr16:89920029-89920029;C/G missense_variant False MC1R@p.F280L 1 0.5 ENSG00000258839 chr16:89920098-89920098;C/A missense_variant False MC3R@p.D121G 1 0.208333333 ENSG00000124089 chr20:56249205-56249205;A/G missense_variant False MC3R@p.E184D 1 0.103773585 ENSG00000124089 chr20:56249395-56249395;G/C missense_variant False MC3R@p.E94Q 1 0.181818182 ENSG00000124089 chr20:56249123-56249123;G/C missense_variant False MC3R@p.I266M 1 0.218934911 ENSG00000124089 chr20:56249641-56249641;C/G missense_variant False MC4R@p.C279Lfs*6 1 0.144927536 ENSG00000166603 chr18:60371514-60371515;CA/- frameshift_variant False MC4R@p.D327N 1 0.631578947 ENSG00000166603 chr18:60371371-60371371;C/T missense_variant False MC4R@p.D37N 1 0.053846154 ENSG00000166603 chr18:60372241-60372241;C/T missense_variant False MC5R@p.F273L 1 0.050704225 ENSG00000176136 chr18:13826584-13826584;C/A missense_variant False MC5R@p.L211P 1 0.154320988 ENSG00000176136 chr18:13826397-13826397;T/C missense_variant False MC5R@p.V75A 1 0.163934426 ENSG00000176136 chr18:13825989-13825989;T/C missense_variant False MCAM@p.E111K 1 0.5 ENSG00000076706 chr11:119314902-119314902;C/T missense_variant False MCAM@p.E34K 1 0.520833333 ENSG00000076706 chr11:119315231-119315231;C/T missense_variant False MCAM@p.E368Q 1 0.146341463 ENSG00000076706 chr11:119312093-119312093;C/G missense_variant False MCAM@p.E387A 1 0.345323741 ENSG00000076706 chr11:119311933-119311933;T/G missense_variant False MCAM@p.E556D 1 0.382352941 ENSG00000076706 chr11:119310881-119310881;C/G missense_variant False MAZ@p.M322I 1 0.101694915 ENSG00000103495 chr16:29807751-29807751;G/A missense_variant False MAZ@p.M28I 1 0.461538462 ENSG00000103495 chr16:29806785-29806785;G/T missense_variant False MAZ@p.K200N 1 0.238095238 ENSG00000103495 chr16:29807385-29807385;G/C missense_variant False MASP2@p.N308T 1 0.174418605 ENSG00000009724 chr1:11037778-11037778;T/G missense_variant False MAST1@p.F979Y 1 0.101265823 ENSG00000105613 chr19:12869228-12869228;T/A missense_variant False MAST1@p.E1268K 1 0.411764706 ENSG00000105613 chr19:12873959-12873959;G/A missense_variant False MAST1@p.A74Pfs*103 1 0.5 ENSG00000105613 chr19:12841033-12841033;C/- frameshift_variant False MASP2@p.R630T 1 0.745901639 ENSG00000009724 chr1:11027057-11027057;C/G missense_variant False MASP2@p.R175H 1 0.372340426 ENSG00000009724 chr1:11045428-11045428;C/T missense_variant False MASP2@p.P301L 1 0.428571429 ENSG00000009724 chr1:11037799-11037799;G/A missense_variant False MASP1@p.Y7C 1 0.114754098 ENSG00000127241 chr3:187286042-187286042;T/C missense_variant False MAS1L@p.F18L 1 0.296296296 ENSG00000204687 chr6:29487851-29487851;A/G missense_variant False MASP1@p.V535I 1 0.085714286 ENSG00000127241 chr3:187225462-187225462;C/T missense_variant False MASP1@p.Q456H 1 0.235294118 ENSG00000127241 chr3:187229833-187229833;C/G missense_variant False MASP1@p.L336P 1 0.36036036 ENSG00000127241 chr3:187251638-187251638;A/G missense_variant False MASP1@p.H273R 1 0.327777778 ENSG00000127241 chr3:187253242-187253242;T/C missense_variant False MASP1@p.E348Q 1 0.361867704 ENSG00000127241 chr3:187250299-187250299;C/G missense_variant False MASP1@p.C301F 1 0.064935065 ENSG00000127241 chr3:187251743-187251743;C/A missense_variant False MAST1@p.H510Y 1 0.113207547 ENSG00000105613 chr19:12865068-12865068;C/T missense_variant False MAST1@p.M178I 1 0.119402985 ENSG00000105613 chr19:12847657-12847657;G/A missense_variant False MAST1@p.Q658H 1 0.095238095 ENSG00000105613 chr19:12866047-12866047;G/C missense_variant False MAST1@p.R1423C 1 0.186046512 ENSG00000105613 chr19:12874424-12874424;C/T missense_variant False MAST1@p.R82Q 1 0.293103448 ENSG00000105613 chr19:12841063-12841063;G/A missense_variant False MAST1@p.S1113W 1 0.25 ENSG00000105613 chr19:12873398-12873398;C/G missense_variant False MAST1@p.S1161L 1 0.24 ENSG00000105613 chr19:12873639-12873639;C/T missense_variant False MAST1@p.S1172L 1 0.388888889 ENSG00000105613 chr19:12873672-12873672;C/T missense_variant False MAST1@p.S722W 1 0.347826087 ENSG00000105613 chr19:12867499-12867499;C/G missense_variant False MAST2@p.A1026D 1 0.24 ENSG00000086015 chr1:46031475-46031475;C/A missense_variant False MAST2@p.E1175Q 1 0.157894737 ENSG00000086015 chr1:46032704-46032704;G/C missense_variant False MAST2@p.E280K 1 0.333333333 ENSG00000086015 chr1:46006331-46006331;G/A missense_variant False MAST2@p.E286Q 1 0.107526882 ENSG00000086015 chr1:46006349-46006349;G/C missense_variant False MAST2@p.H1077Gfs*10 1 0.264705882 ENSG00000086015 chr1:46032217-46032262;CACATTCTCAGTCGTCCAACCCATCATCCCGGGACTCTTCTCCAAG/- frameshift_variant False MAST2@p.M140I 1 0.222222222 ENSG00000086015 chr1:45829533-45829533;G/C missense_variant False MAST2@p.T1638N 1 0.177083333 ENSG00000086015 chr1:46035582-46035582;C/A missense_variant False MAST2@p.W1658C 1 0.282051282 ENSG00000086015 chr1:46035643-46035643;G/C missense_variant False MAS1L@p.I197M 1 0.160714286 ENSG00000204687 chr6:29487312-29487312;G/C missense_variant False MAS1L@p.D288H 1 0.071428571 ENSG00000204687 chr6:29487041-29487041;C/G missense_variant False MAST3@p.G376A 1 0.173076923 ENSG00000099308 chr19:18128942-18128942;G/C missense_variant False MARK2@p.T549Rfs*67 1 0.444444444 ENSG00000072518 chr11:63904110-63904110;C/- frameshift_variant False MARK3@p.Q406H 1 0.282608696 ENSG00000075413 chr14:103468140-103468140;G/C missense_variant False MARK3@p.P672T 1 0.117647059 ENSG00000075413 chr14:103502979-103502979;C/A missense_variant False MARK3@p.N291_P292dup 1 0.21875 ENSG00000075413 chr14:103466063-103466064;-/AAATCC inframe_insertion False MARK3@p.L184V 1 0.134020619 ENSG00000075413 chr14:103465566-103465566;C/G missense_variant False MARK3@p.E347Q 1 0.333333333 ENSG00000075413 chr14:103467120-103467120;G/C missense_variant False MARK3@p.E347A 1 0.081081081 ENSG00000075413 chr14:103467121-103467121;A/C missense_variant False MARK2@p.S93del 1 0.125714286 ENSG00000072518 chr11:63895615-63895617;CTC/- inframe_deletion False MAS1@p.V152G 1 0.382608696 ENSG00000130368 chr6:159907410-159907410;T/G missense_variant False MARK2@p.R528C 1 0.25 ENSG00000072518 chr11:63904053-63904053;C/T missense_variant False MARK2@p.N777Kfs*6 1 0.243697479 ENSG00000072518 chr11:63909201-63909201;C/- frameshift_variant False MARK2@p.N481Ifs*26 1 0.288888889 ENSG00000072518 chr11:63903084-63903084;A/- frameshift_variant False MARK2@p.N305Wfs*8 1 0.412037037 ENSG00000072518 chr11:63900801-63900804;ATGA/- frameshift_variant False MARK2@p.E130V 1 0.373333333 ENSG00000072518 chr11:63898659-63898659;A/T missense_variant False MARK2@p.E130K 1 0.27184466 ENSG00000072518 chr11:63898658-63898658;G/A missense_variant False MARK3@p.S380C 1 0.520547945 ENSG00000075413 chr14:103468060-103468060;A/T missense_variant False MARK4@p.D213H 1 0.211594203 ENSG00000007047 chr19:45271559-45271559;G/C missense_variant False MARS1@p.P433L 1 0.228571429 ENSG00000166986 chr12:57504229-57504229;C/T missense_variant False MARS1@p.Q302P 1 0.206896552 ENSG00000166986 chr12:57498437-57498437;A/C missense_variant False MARS2@p.E174K 1 0.333333333 ENSG00000247626 chr2:197705925-197705925;G/A missense_variant False MARS2@p.Q100E 1 0.173913043 ENSG00000247626 chr2:197705703-197705703;C/G missense_variant False MARS2@p.R227Q 1 0.450980392 ENSG00000247626 chr2:197706085-197706085;G/A missense_variant False MARS2@p.R409L 1 0.240384615 ENSG00000247626 chr2:197706631-197706631;G/T missense_variant False MARS2@p.S33F 1 0.285714286 ENSG00000247626 chr2:197705503-197705503;C/T missense_variant False MARVELD2@p.H538Y 1 0.420289855 ENSG00000152939 chr5:69441589-69441589;C/T missense_variant False MARVELD2@p.K517N 1 0.5 ENSG00000152939 chr5:69440497-69440497;G/C missense_variant False MARVELD2@p.Q381R 1 0.324324324 ENSG00000152939 chr5:69420527-69420527;A/G missense_variant False MARVELD2@p.S558C 1 0.409090909 ENSG00000152939 chr5:69441650-69441650;C/G missense_variant False MARVELD3@p.K394N 1 0.460674157 ENSG00000140832 chr16:71634779-71634779;G/T missense_variant False MARVELD3@p.P319T 1 0.130434783 ENSG00000140832 chr16:71634552-71634552;C/A missense_variant False MARVELD3@p.S166L 1 0.1625 ENSG00000140832 chr16:71629396-71629396;C/T missense_variant False MAS1@p.R290T 1 0.222222222 ENSG00000130368 chr6:159907824-159907824;G/C missense_variant False MAST3@p.E794Q 1 0.425925926 ENSG00000099308 chr19:18143890-18143890;G/C missense_variant False MAST3@p.G759E 1 0.448979592 ENSG00000099308 chr19:18143786-18143786;G/A missense_variant False MAVS@p.Y9C 1 0.368932039 ENSG00000088888 chr20:3854650-3854650;A/G missense_variant False MATN4@p.E129K 1 0.2 ENSG00000124159 chr20:45304486-45304486;C/T missense_variant False MATN4@p.R132Q 1 0.214285714 ENSG00000124159 chr20:45304476-45304476;C/T missense_variant False MATN4@p.H306D 1 0.096385542 ENSG00000124159 chr20:45301198-45301198;G/C missense_variant False MATN4@p.G466W 1 0.147058824 ENSG00000124159 chr20:45298323-45298323;C/A missense_variant False MATN4@p.E598G 1 0.862068966 ENSG00000124159 chr20:45293925-45293925;T/C missense_variant False MATN4@p.E437K 1 0.592391304 ENSG00000124159 chr20:45298410-45298410;C/T missense_variant False MATN4@p.E156K 1 0.2 ENSG00000124159 chr20:45304405-45304405;C/T missense_variant False MATN4@p.A480V 1 0.509615385 ENSG00000124159 chr20:45298280-45298280;G/A missense_variant False MATN2@p.E286Q 1 0.191616766 ENSG00000132561 chr8:97961428-97961428;G/C missense_variant False MATN3@p.Q167H 1 0.208333333 ENSG00000132031 chr2:20006033-20006033;C/A missense_variant False MATN3@p.F243L 1 0.583333333 ENSG00000132031 chr2:20005805-20005805;G/T missense_variant False MATN3@p.D392N 1 0.2 ENSG00000132031 chr2:19997254-19997254;C/T missense_variant False MATN2@p.S528C 1 0.411764706 ENSG00000132561 chr8:98016549-98016549;C/G missense_variant False MATN2@p.L892S 1 0.352941176 ENSG00000132561 chr8:98033135-98033135;T/C missense_variant False MATN2@p.E777K 1 0.269230769 ENSG00000132561 chr8:98027802-98027802;G/A missense_variant False MATN4@p.S186L 1 0.4 ENSG00000124159 chr20:45304314-45304314;G/A missense_variant False MATR3@p.E151K 1 0.52173913 ENSG00000280987 chr5:139307866-139307866;G/A missense_variant False MATR3@p.E180K 1 0.166666667 ENSG00000280987 chr5:139307953-139307953;G/A missense_variant False MATR3@p.E623K 1 0.444444444 ENSG00000280987 chr5:139322686-139322686;G/A missense_variant False MATR3@p.K844N 1 0.153153153 ENSG00000280987 chr5:139329383-139329383;G/C missense_variant False MATR3@p.P286A 1 0.168918919 ENSG00000280987 chr5:139308271-139308271;C/G missense_variant False MATR3@p.R207H 1 0.179104478 ENSG00000280987 chr5:139308035-139308035;G/A missense_variant False MATR3@p.S506C 1 0.178947368 ENSG00000280987 chr5:139319416-139319416;C/G missense_variant False MATR3@p.S98F 1 0.243243243 ENSG00000280987 chr5:139307708-139307708;C/T missense_variant False MATR3@p.Y171Tfs*54 1 0.226415094 ENSG00000280987 chr5:139307925-139307925;A/- frameshift_variant False MAU2@p.D268N 1 0.558441558 ENSG00000129933 chr19:19342601-19342601;G/A missense_variant False MAU2@p.E34Q 1 0.266666667 ENSG00000129933 chr19:19320959-19320959;G/C missense_variant False MAU2@p.E442K 1 0.28 ENSG00000129933 chr19:19348904-19348904;G/A missense_variant False MAVS@p.A123T 1 0.117647059 ENSG00000088888 chr20:3861406-3861406;G/A missense_variant False MAVS@p.L349F 1 0.25 ENSG00000088888 chr20:3864677-3864677;G/T missense_variant False MAVS@p.R538H 1 0.181818182 ENSG00000088888 chr20:3866137-3866137;G/A missense_variant False MAVS@p.S49L 1 0.069444444 ENSG00000088888 chr20:3857663-3857663;C/T missense_variant False MATN2@p.E512Q 1 0.218390805 ENSG00000132561 chr8:98007562-98007562;G/C missense_variant False MATN1@p.R287S 1 0.233333333 ENSG00000162510 chr1:30716255-30716255;C/A missense_variant False MAST3@p.V578M 1 0.320512821 ENSG00000099308 chr19:18134931-18134931;G/A missense_variant False MAST4@p.R1347G 1 0.205128205 ENSG00000069020 chr5:67163218-67163218;C/G missense_variant False MASTL@p.G359D 1 0.188888889 ENSG00000120539 chr10:27170035-27170035;G/A missense_variant False MASTL@p.E600Q 1 0.071428571 ENSG00000120539 chr10:27170757-27170757;G/C missense_variant False MASTL@p.E33K 1 0.229166667 ENSG00000120539 chr10:27155523-27155523;G/A missense_variant False MASTL@p.D515N 1 0.162790698 ENSG00000120539 chr10:27170502-27170502;G/A missense_variant False MAST4@p.S1395L 1 0.137931034 ENSG00000069020 chr5:67163363-67163363;C/T missense_variant False MAST4@p.S1116C 1 0.035460993 ENSG00000069020 chr5:67152688-67152688;C/G missense_variant False MAST4@p.L1809V 1 0.083969466 ENSG00000069020 chr5:67164604-67164604;C/G missense_variant False MATN1@p.I298M 1 0.217948718 ENSG00000162510 chr1:30716222-30716222;G/C missense_variant False MAST4@p.G2562R 1 0.157894737 ENSG00000069020 chr5:67166863-67166863;G/C missense_variant False MAST4@p.E2084K 1 0.140495868 ENSG00000069020 chr5:67165429-67165429;G/A missense_variant False MAST4@p.E1017K 1 0.98 ENSG00000069020 chr5:67145334-67145334;G/A missense_variant False MAST4@p.D963H 1 0.958333333 ENSG00000069020 chr5:67145172-67145172;G/C missense_variant False MAST4@p.A276S 1 0.179487179 ENSG00000069020 chr5:67090224-67090224;G/T missense_variant False MAST3@p.V952F 1 0.40969163 ENSG00000099308 chr19:18145131-18145131;G/T missense_variant False MASTL@p.G876E 1 0.366013072 ENSG00000120539 chr10:27186523-27186523;G/A missense_variant False MASTL@p.L157F 1 0.139344262 ENSG00000120539 chr10:27161100-27161100;G/C missense_variant False MASTL@p.P638L 1 0.185714286 ENSG00000120539 chr10:27170872-27170872;C/T missense_variant False MASTL@p.S598C 1 0.323529412 ENSG00000120539 chr10:27170752-27170752;C/G missense_variant False MAT1A@p.D93N 1 0.182692308 ENSG00000151224 chr10:80283931-80283931;C/T missense_variant False MAT1A@p.E128K 1 0.243697479 ENSG00000151224 chr10:80280703-80280703;C/T missense_variant False MAT1A@p.W387S 1 0.287037037 ENSG00000151224 chr10:80273809-80273809;C/G missense_variant False MAT2A@p.D51H 1 0.170212766 ENSG00000168906 chr2:85541142-85541142;G/C missense_variant False MAT2A@p.E111Q 1 0.211538462 ENSG00000168906 chr2:85541671-85541671;G/C missense_variant False MAT2A@p.F353L 1 0.394736842 ENSG00000168906 chr2:85543008-85543008;C/G missense_variant False MAT2A@p.K340N 1 0.270588235 ENSG00000168906 chr2:85542969-85542969;G/C missense_variant False MAT2B@p.A293V 1 0.15942029 ENSG00000038274 chr5:163518236-163518236;C/T missense_variant False MATK@p.E148K 1 0.142857143 ENSG00000007264 chr19:3783954-3783954;C/T missense_variant False MATK@p.E243Q 1 0.254901961 ENSG00000007264 chr19:3781622-3781622;C/G missense_variant False MATK@p.E338Q 1 0.16 ENSG00000007264 chr19:3779177-3779177;C/G missense_variant False MATN1@p.E194K 1 0.103448276 ENSG00000162510 chr1:30718819-30718819;C/T missense_variant False MATN1@p.F383L 1 0.269230769 ENSG00000162510 chr1:30715967-30715967;G/C missense_variant False MCF2L2@p.E631K 1 0.368421053 ENSG00000053524 chr3:183230989-183230989;C/T missense_variant False MCF2L2@p.I960M 1 0.342857143 ENSG00000053524 chr3:183205880-183205880;G/C missense_variant False MED12@p.D891N 1 0.087912088 ENSG00000184634 chrX:71126470-71126470;G/A missense_variant True MDK@p.S48R 1 0.6 ENSG00000110492 chr11:46382361-46382361;C/A missense_variant False MDM1@p.P619A 1 0.029489205 ENSG00000111554 chr12:68302737-68302737;G/C missense_variant False MDM1@p.L649V 1 0.256097561 ENSG00000111554 chr12:68302647-68302647;G/C missense_variant False MDM1@p.K509R 1 0.269230769 ENSG00000111554 chr12:68313727-68313727;T/C missense_variant False MDM1@p.G659A 1 0.03286385 ENSG00000111554 chr12:68296979-68296979;C/G missense_variant False MDM1@p.G588D 1 0.177570093 ENSG00000111554 chr12:68302829-68302829;C/T missense_variant False MDM1@p.D272H 1 0.059701493 ENSG00000111554 chr12:68321616-68321616;C/G missense_variant False MDK@p.K50N 1 0.384615385 ENSG00000110492 chr11:46382367-46382367;G/C missense_variant False MDM1@p.S631C 1 0.487804878 ENSG00000111554 chr12:68302700-68302700;G/C missense_variant False MDH1B@p.T199M 1 0.261904762 ENSG00000138400 chr2:206755323-206755323;G/A missense_variant False MDH1B@p.R342H 1 0.2 ENSG00000138400 chr2:206750961-206750961;C/T missense_variant False MDH1B@p.N346K 1 0.826086957 ENSG00000138400 chr2:206750948-206750948;G/T missense_variant False MDH1B@p.L225V 1 0.548780488 ENSG00000138400 chr2:206755246-206755246;G/C missense_variant False MDH1@p.G52S 1 0.484848485 ENSG00000014641 chr2:63595474-63595474;G/A missense_variant False MDH1@p.E97D 1 0.393939394 ENSG00000014641 chr2:63597490-63597490;G/C missense_variant False MDM1@p.R56I 1 0.5 ENSG00000111554 chr12:68326988-68326988;C/A missense_variant False MDM2@p.E220K 1 0.058441558 ENSG00000135679 chr12:68828905-68828905;G/A missense_variant False MCF2L2@p.N283I 1 0.306306306 ENSG00000053524 chr3:183311678-183311678;T/A missense_variant False MDN1@p.E1552K 1 0.402985075 ENSG00000112159 chr6:89738395-89738395;C/T missense_variant False MDN1@p.E4389D 1 0.444444444 ENSG00000112159 chr6:89674184-89674184;C/G missense_variant False MDN1@p.E241Q 1 0.1875 ENSG00000112159 chr6:89793896-89793896;C/G missense_variant False MDN1@p.E2260Q 1 0.210526316 ENSG00000112159 chr6:89715735-89715735;C/G missense_variant False MDN1@p.E2141K 1 0.333333333 ENSG00000112159 chr6:89718528-89718528;C/T missense_variant False MDN1@p.E1984K 1 0.13368984 ENSG00000112159 chr6:89722972-89722972;C/T missense_variant False MDN1@p.E1930K 1 0.134408602 ENSG00000112159 chr6:89723134-89723134;C/T missense_variant False MDN1@p.D5346H 1 0.933333333 ENSG00000112159 chr6:89650194-89650194;C/G missense_variant False MDM2@p.P497A 1 0.384615385 ENSG00000135679 chr12:68839844-68839844;C/G missense_variant False MDN1@p.D497N 1 0.196581197 ENSG00000112159 chr6:89781553-89781553;C/T missense_variant False MDN1@p.D4841N 1 0.098684211 ENSG00000112159 chr6:89662131-89662131;C/T missense_variant False MDN1@p.D2437H 1 0.75 ENSG00000112159 chr6:89712696-89712696;C/G missense_variant False MDN1@p.A5574T 1 0.222222222 ENSG00000112159 chr6:89644076-89644076;C/T missense_variant False MDM4@p.T2S 1 0.262295082 ENSG00000198625 chr1:204525522-204525522;A/T missense_variant False MDM2@p.S246L 1 0.325 ENSG00000135679 chr12:68835881-68835881;C/T missense_variant False MDGA2@p.W726C 1 0.2 ENSG00000139915 chr14:46920072-46920072;C/G missense_variant False MDGA2@p.V553L 1 0.333333333 ENSG00000139915 chr14:47035173-47035173;C/G missense_variant False MDGA2@p.R653W 1 0.32183908 ENSG00000139915 chr14:46957506-46957506;G/A missense_variant False MDC1@p.D875H 1 0.190789474 ENSG00000137337 chr6:30707956-30707956;C/G missense_variant False MDC1@p.P346S 1 0.302083333 ENSG00000137337 chr6:30712906-30712906;G/A missense_variant False MDC1@p.P1469H 1 0.443925234 ENSG00000137337 chr6:30704777-30704777;G/T missense_variant False MDC1@p.P1043S 1 0.561797753 ENSG00000137337 chr6:30706056-30706056;G/A missense_variant False MDC1@p.L216F 1 0.090909091 ENSG00000137337 chr6:30713294-30713294;C/A missense_variant False MDC1@p.L1038V 1 0.534090909 ENSG00000137337 chr6:30706071-30706071;G/C missense_variant False MDC1@p.E2K 1 0.489361702 ENSG00000137337 chr6:30715172-30715172;C/T missense_variant False MDC1@p.D117N 1 0.230769231 ENSG00000137337 chr6:30713971-30713971;C/T missense_variant False MDGA2@p.H911P 1 0.115384615 ENSG00000139915 chr14:46873453-46873453;T/G missense_variant False MCUR1@p.T314A 1 0.179487179 ENSG00000050393 chr6:13791962-13791962;T/C missense_variant False MCUR1@p.E290K 1 0.392156863 ENSG00000050393 chr6:13793935-13793935;C/T missense_variant False MCUB@p.I255M 1 0.142857143 ENSG00000005059 chr4:109684595-109684595;C/G missense_variant False MCU@p.S129L 1 0.541666667 ENSG00000156026 chr10:72859342-72859342;C/T missense_variant False MCU@p.E315Q 1 0.152380952 ENSG00000156026 chr10:72884347-72884347;G/C missense_variant False MCTS1@p.I111M 1 0.075 ENSG00000232119 chrX:120608295-120608295;C/G missense_variant False MDC1@p.Q1226E 1 0.194656489 ENSG00000137337 chr6:30705507-30705507;G/C missense_variant False MDC1@p.R1562K 1 0.569230769 ENSG00000137337 chr6:30704498-30704498;C/T missense_variant False MDC1@p.S1458C 1 0.213333333 ENSG00000137337 chr6:30704810-30704810;G/C missense_variant False MDC1@p.S1605C 1 0.502538071 ENSG00000137337 chr6:30704369-30704369;G/C missense_variant False MDC1@p.T1666Qfs*10 1 0.178861789 ENSG00000137337 chr6:30704188-30704188;G/- frameshift_variant False MDC1@p.T1858Nfs*30 1 0.446153846 ENSG00000137337 chr6:30703527-30703528;-/T frameshift_variant False MDC1@p.Y775C 1 0.086021505 ENSG00000137337 chr6:30708255-30708255;T/C missense_variant False MDFIC@p.I171T 1 0.234234234 ENSG00000135272 chr7:115015706-115015706;T/C missense_variant False MDGA1@p.A35T 1 0.071428571 ENSG00000112139 chr6:37664071-37664071;C/T missense_variant False MDGA1@p.A934T 1 0.287037037 ENSG00000112139 chr6:37637436-37637436;C/T missense_variant False MDGA1@p.E52Q 1 0.194029851 ENSG00000112139 chr6:37664020-37664020;C/G missense_variant False MDGA1@p.L250V 1 0.359375 ENSG00000112139 chr6:37654508-37654508;G/C missense_variant False MDGA1@p.R144Q 1 0.105263158 ENSG00000112139 chr6:37655848-37655848;C/T missense_variant False MDGA1@p.S344N 1 0.296296296 ENSG00000112139 chr6:37652292-37652292;C/T missense_variant False MDGA2@p.D557Y 1 0.145454545 ENSG00000139915 chr14:47035161-47035161;C/A missense_variant False MDGA2@p.D658N 1 0.438596491 ENSG00000139915 chr14:46957491-46957491;C/T missense_variant False MDGA2@p.E644K 1 0.329787234 ENSG00000139915 chr14:46957533-46957533;C/T missense_variant False MDN1@p.E4389K 1 0.209302326 ENSG00000112159 chr6:89674186-89674186;C/T missense_variant False MDN1@p.E4708Q 1 0.242424242 ENSG00000112159 chr6:89664601-89664601;C/G missense_variant False MDN1@p.E4744K 1 0.244755245 ENSG00000112159 chr6:89664493-89664493;C/T missense_variant False MECOM@p.E657Q 1 0.387096774 ENSG00000085276 chr3:169112831-169112831;C/G missense_variant False MECOM@p.Q583_P584del 1 0.090909091 ENSG00000085276 chr3:169115555-169115560;GGGGCT/- inframe_deletion False MECOM@p.P43S 1 0.055555556 ENSG00000085276 chr3:169127983-169127983;G/A missense_variant False MECOM@p.M94L 1 0.569230769 ENSG00000085276 chr3:169122714-169122714;T/G missense_variant False MECOM@p.F282V 1 0.41509434 ENSG00000085276 chr3:169116464-169116464;A/C missense_variant False MECOM@p.E904V 1 0.407058824 ENSG00000085276 chr3:169090126-169090126;T/A missense_variant False MECOM@p.E904K 1 0.411627907 ENSG00000085276 chr3:169090127-169090127;C/T missense_variant False MECOM@p.E461Q 1 0.071428571 ENSG00000085276 chr3:169115927-169115927;C/G missense_variant False ME3@p.M111I 1 0.26 ENSG00000151376 chr11:86556687-86556687;C/G missense_variant False MECOM@p.E240K 1 0.117647059 ENSG00000085276 chr3:169116590-169116590;C/T missense_variant False MECOM@p.D264Y 1 0.544117647 ENSG00000085276 chr3:169116518-169116518;C/A missense_variant False MEA1@p.G64Afs*4 1 0.228187919 ENSG00000124733 chr6:43013209-43013227;TAGGAGTAGCCAGCTGGGC/- frameshift_variant False MEA1@p.E52K 1 0.06185567 ENSG00000124733 chr6:43013264-43013264;C/T missense_variant False MEA1@p.E35K 1 0.154228856 ENSG00000124733 chr6:43013315-43013315;C/T missense_variant False ME3@p.T138M 1 0.177419355 ENSG00000151376 chr11:86556607-86556607;G/A missense_variant False MECOM@p.R205C 1 0.282352941 ENSG00000085276 chr3:169116695-169116695;G/A missense_variant False MECOM@p.R83G 1 0.138613861 ENSG00000085276 chr3:169381315-169381315;G/C missense_variant False MECOM@p.S409L 1 0.093333333 ENSG00000085276 chr3:169116082-169116082;G/A missense_variant False MECOM@p.S769L 1 0.44 ENSG00000085276 chr3:169095225-169095225;G/A missense_variant False MECOM@p.Y21C 1 0.105263158 ENSG00000085276 chr3:169128048-169128048;T/C missense_variant False MECP2@p.E102K 1 0.717741935 ENSG00000169057 chrX:154032280-154032280;C/T missense_variant False MECP2@p.E235K 1 0.31152648 ENSG00000169057 chrX:154031125-154031125;C/T missense_variant False MECP2@p.R270Q 1 0.964912281 ENSG00000169057 chrX:154031019-154031019;C/T missense_variant False MECR@p.D185Gfs*36 1 0.357142857 ENSG00000116353 chr1:29203230-29203231;-/C frameshift_variant False MECR@p.E234Q 1 0.197879859 ENSG00000116353 chr1:29201999-29201999;C/G missense_variant False MECR@p.F96L 1 0.308510638 ENSG00000116353 chr1:29216123-29216123;G/T missense_variant False MECR@p.Q222H 1 0.261290323 ENSG00000116353 chr1:29202033-29202033;C/A missense_variant False MED11@p.E116Q 1 0.12 ENSG00000161920 chr17:4733179-4733179;G/C missense_variant False MED11@p.E38K 1 0.40625 ENSG00000161920 chr17:4731802-4731802;G/A missense_variant False MED12@p.D1069Y 1 0.204545455 ENSG00000184634 chrX:71128116-71128116;G/T missense_variant True MED12@p.D1309N 1 0.461538462 ENSG00000184634 chrX:71130092-71130092;G/A missense_variant True MED12@p.D501G 1 0.47826087 ENSG00000184634 chrX:71123111-71123111;A/G missense_variant True ME3@p.R364K 1 0.260089686 ENSG00000151376 chr11:86449929-86449929;C/T missense_variant False ME3@p.I277V 1 0.537634409 ENSG00000151376 chr11:86465181-86465181;T/C missense_variant False MDN1@p.E4955Q 1 0.116197183 ENSG00000112159 chr6:89658768-89658768;C/G missense_variant False MDN1@p.M2058I 1 0.070422535 ENSG00000112159 chr6:89718914-89718914;C/G missense_variant False MDN1@p.R2598Q 1 0.410596026 ENSG00000112159 chr6:89708601-89708601;C/T missense_variant False MDN1@p.R2352L 1 0.153846154 ENSG00000112159 chr6:89714557-89714557;C/A missense_variant False MDN1@p.Q5314H 1 0.146341463 ENSG00000112159 chr6:89650821-89650821;C/G missense_variant False MDN1@p.Q4280R 1 0.28 ENSG00000112159 chr6:89674512-89674512;T/C missense_variant False MDN1@p.P3937L 1 0.311111111 ENSG00000112159 chr6:89684895-89684895;G/A missense_variant False MDN1@p.N1735H 1 0.507936508 ENSG00000112159 chr6:89729077-89729077;T/G missense_variant False MDN1@p.M1981I 1 0.123931624 ENSG00000112159 chr6:89722979-89722979;C/T missense_variant False ME3@p.E189K 1 0.337349398 ENSG00000151376 chr11:86498103-86498103;C/T missense_variant False MDN1@p.L735V 1 0.118644068 ENSG00000112159 chr6:89762472-89762472;G/C missense_variant False MDN1@p.L1253I 1 0.277777778 ENSG00000112159 chr6:89749228-89749228;G/T missense_variant False MDN1@p.H3095Y 1 0.447368421 ENSG00000112159 chr6:89696460-89696460;G/A missense_variant False MDN1@p.G4960V 1 0.213333333 ENSG00000112159 chr6:89658752-89658752;C/A missense_variant False MDN1@p.E527Q 1 0.123809524 ENSG00000112159 chr6:89781463-89781463;C/G missense_variant False MDN1@p.E509Q 1 0.058139535 ENSG00000112159 chr6:89781517-89781517;C/G missense_variant False MDN1@p.R4226T 1 0.375 ENSG00000112159 chr6:89675548-89675548;C/G missense_variant False MDN1@p.R5517G 1 0.117647059 ENSG00000112159 chr6:89645068-89645068;G/C missense_variant False MDN1@p.R5517W 1 0.101694915 ENSG00000112159 chr6:89645068-89645068;G/A missense_variant False MDN1@p.S1338Y 1 0.469230769 ENSG00000112159 chr6:89745518-89745518;G/T missense_variant False MDN1@p.S3735P 1 0.333333333 ENSG00000112159 chr6:89688629-89688629;A/G missense_variant False MDN1@p.S857F 1 0.245614035 ENSG00000112159 chr6:89758851-89758851;G/A missense_variant False MDN1@p.T1656I 1 0.191780822 ENSG00000112159 chr6:89730899-89730899;G/A missense_variant False MDN1@p.W3021C 1 0.194444444 ENSG00000112159 chr6:89698970-89698970;C/G missense_variant False MDN1@p.Y5565H 1 0.2 ENSG00000112159 chr6:89644103-89644103;A/G missense_variant False MDP1@p.T162S 1 0.313432836 ENSG00000213920 chr14:24214070-24214070;G/C missense_variant False ME1@p.G168C 1 0.272727273 ENSG00000065833 chr6:83346271-83346271;C/A missense_variant False ME1@p.L511V 1 0.12195122 ENSG00000065833 chr6:83216515-83216515;G/C missense_variant False ME1@p.N257K 1 0.192 ENSG00000065833 chr6:83253672-83253672;G/T missense_variant False ME1@p.S92C 1 0.2 ENSG00000065833 chr6:83398454-83398454;G/C missense_variant False ME1@p.T273K 1 0.076923077 ENSG00000065833 chr6:83239633-83239633;G/T missense_variant False ME2@p.A356* 1 0.471698113 ENSG00000082212 chr18:50924104-50924110;AAAGCAA/- frameshift_variant False ME3@p.A466V 1 0.442307692 ENSG00000151376 chr11:86446471-86446471;G/A missense_variant False MCTS1@p.D98H 1 0.1 ENSG00000232119 chrX:120608254-120608254;G/C missense_variant False MCTP2@p.P593T 1 0.333333333 ENSG00000140563 chr15:94385514-94385514;C/A missense_variant False MCTP2@p.I709T 1 0.173076923 ENSG00000140563 chr15:94440216-94440216;T/C missense_variant False MCM3AP@p.Q1227H 1 0.068965517 ENSG00000160294 chr21:46258992-46258992;C/G missense_variant False MCM4@p.E460D 1 0.738675958 ENSG00000104738 chr8:47970003-47970003;G/C missense_variant False MCM3AP@p.T727S 1 0.2 ENSG00000160294 chr21:46273405-46273405;T/A missense_variant False MCM3AP@p.T727M 1 0.197368421 ENSG00000160294 chr21:46273404-46273404;G/A missense_variant False MCM3AP@p.R340W 1 0.06122449 ENSG00000160294 chr21:46284269-46284269;G/A missense_variant False MCM3AP@p.Q382E 1 0.090322581 ENSG00000160294 chr21:46284143-46284143;G/C missense_variant False MCM3AP@p.Q1906E 1 0.125 ENSG00000160294 chr21:46236897-46236897;G/C missense_variant False MCM3AP@p.K988R 1 0.204819277 ENSG00000160294 chr21:46265993-46265993;T/C missense_variant False MCM3AP@p.A484V 1 0.388888889 ENSG00000160294 chr21:46280568-46280568;G/A missense_variant False MCM3AP@p.G335C 1 0.204968944 ENSG00000160294 chr21:46284284-46284284;C/A missense_variant False MCM3AP@p.E690K 1 0.347826087 ENSG00000160294 chr21:46273516-46273516;C/T missense_variant False MCM3AP@p.E643Q 1 0.227272727 ENSG00000160294 chr21:46275257-46275257;C/G missense_variant False MCM3AP@p.E1536K 1 0.471698113 ENSG00000160294 chr21:46246348-46246348;C/T missense_variant False MCM3AP@p.E1515Q 1 0.476415094 ENSG00000160294 chr21:46246634-46246634;C/G missense_variant False MCM3AP@p.E1375Q 1 0.46 ENSG00000160294 chr21:46254405-46254405;C/G missense_variant False MCM4@p.E575K 1 0.295454545 ENSG00000104738 chr8:47970799-47970799;G/A missense_variant False MCM4@p.E704Q 1 0.8 ENSG00000104738 chr8:47973038-47973038;G/C missense_variant False MCM4@p.L805F 1 0.178082192 ENSG00000104738 chr8:47975764-47975764;G/C missense_variant False MCM4@p.N201S 1 0.5 ENSG00000104738 chr8:47962949-47962949;A/G missense_variant False MCM4@p.P191H 1 0.165517241 ENSG00000104738 chr8:47962834-47962834;C/A missense_variant False MCM4@p.Q521E 1 0.293103448 ENSG00000104738 chr8:47970637-47970637;C/G missense_variant False MCM4@p.R766W 1 0.268656716 ENSG00000104738 chr8:47974893-47974893;C/T missense_variant False MCM4@p.S32C 1 0.316666667 ENSG00000104738 chr8:47961540-47961540;C/G missense_variant False MCM4@p.Y92C 1 0.268041237 ENSG00000104738 chr8:47962092-47962092;A/G missense_variant False MCM5@p.A543T 1 0.392670157 ENSG00000100297 chr22:35417780-35417780;G/A missense_variant False MCM5@p.L121F 1 0.058823529 ENSG00000100297 chr22:35403480-35403480;C/T missense_variant False MCM5@p.P7A 1 0.24516129 ENSG00000100297 chr22:35400457-35400457;C/G missense_variant False MCM5@p.S490L 1 0.558139535 ENSG00000100297 chr22:35416693-35416693;C/T missense_variant False MCM6@p.E339Q 1 0.294117647 ENSG00000076003 chr2:135865076-135865076;C/G missense_variant False MCM6@p.E441Q 1 0.161290323 ENSG00000076003 chr2:135859342-135859342;C/G missense_variant False MCM6@p.F97L 1 0.242857143 ENSG00000076003 chr2:135870327-135870327;A/G missense_variant False MCM6@p.K744N 1 0.387096774 ENSG00000076003 chr2:135844662-135844662;C/G missense_variant False MCM3AP@p.D424N 1 0.144827586 ENSG00000160294 chr21:46283788-46283788;C/T missense_variant False MCM3@p.S384F 1 0.351851852 ENSG00000112118 chr6:52277111-52277111;G/A missense_variant False MCM6@p.S724C 1 0.581632653 ENSG00000076003 chr2:135846275-135846275;G/C missense_variant False MCF2L@p.P21S 1 0.4 ENSG00000126217 chr13:112902263-112902263;C/T missense_variant False MCHR1@p.Y362H 1 0.276923077 ENSG00000128285 chr22:40681743-40681743;T/C missense_variant False MCHR1@p.S114L 1 0.212765957 ENSG00000128285 chr22:40681000-40681000;C/T missense_variant False MCHR1@p.P289T 1 0.323076923 ENSG00000128285 chr22:40681524-40681524;C/A missense_variant False MCHR1@p.L391F 1 0.306818182 ENSG00000128285 chr22:40681832-40681832;G/C missense_variant False MCF2L@p.W227Cfs*15 1 0.089285714 ENSG00000126217 chr13:113064404-113064404;G/- frameshift_variant False MCF2L@p.V1095I 1 0.25 ENSG00000126217 chr13:113096554-113096554;G/A missense_variant False MCF2L@p.E297Q 1 0.357142857 ENSG00000126217 chr13:113066088-113066088;G/C missense_variant False MCM3@p.K280T 1 0.088888889 ENSG00000112118 chr6:52278812-52278812;T/G missense_variant False MCF2L@p.E26K 1 0.146666667 ENSG00000126217 chr13:112902278-112902278;G/A missense_variant False MCF2L@p.E214K 1 0.150684932 ENSG00000126217 chr13:113064364-113064364;G/A missense_variant False MCF2L@p.D215E 1 0.113636364 ENSG00000126217 chr13:113064369-113064369;C/A missense_variant False MCF2L2@p.T992A 1 0.053435115 ENSG00000053524 chr3:183193041-183193041;T/C missense_variant False MCF2L2@p.R458G 1 0.088495575 ENSG00000053524 chr3:183297101-183297101;G/C missense_variant False MCF2L2@p.N283T 1 0.103448276 ENSG00000053524 chr3:183311678-183311678;T/G missense_variant False MCHR2@p.K251N 1 0.344086022 ENSG00000152034 chr6:99921210-99921210;C/G missense_variant False MCHR2@p.S30R 1 0.112676056 ENSG00000152034 chr6:99956058-99956058;A/T missense_variant False MCL1@p.R187W 1 0.320512821 ENSG00000143384 chr1:150578972-150578972;G/A missense_variant False MCL1@p.T196R 1 0.37804878 ENSG00000143384 chr1:150578944-150578944;G/C missense_variant False MCM10@p.D43H 1 0.129496403 ENSG00000065328 chr10:13171041-13171041;G/C missense_variant False MCM10@p.D457H 1 0.128834356 ENSG00000065328 chr10:13189031-13189031;G/C missense_variant False MCM10@p.E89Q 1 0.175925926 ENSG00000065328 chr10:13171179-13171179;G/C missense_variant False MCM10@p.G352E 1 0.110429448 ENSG00000065328 chr10:13183054-13183054;G/A missense_variant False MCM10@p.L379V 1 0.11026616 ENSG00000065328 chr10:13186197-13186197;T/G missense_variant False MCM10@p.P621Q 1 0.457142857 ENSG00000065328 chr10:13195154-13195154;C/A missense_variant False MCM10@p.S371C 1 0.215686275 ENSG00000065328 chr10:13186174-13186174;C/G missense_variant False MCM10@p.S468L 1 0.361702128 ENSG00000065328 chr10:13189065-13189065;C/T missense_variant False MCM10@p.S516C 1 0.166666667 ENSG00000065328 chr10:13192282-13192282;C/G missense_variant False MCM2@p.D36N 1 0.377358491 ENSG00000073111 chr3:127599417-127599417;G/A missense_variant False MCM2@p.D423N 1 0.453642384 ENSG00000073111 chr3:127608862-127608862;G/A missense_variant False MCM2@p.E91K 1 0.4125 ENSG00000073111 chr3:127604642-127604642;G/A missense_variant False MCM2@p.S351F 1 0.125 ENSG00000073111 chr3:127606768-127606768;C/T missense_variant False MCM6@p.R558K 1 0.112903226 ENSG00000076003 chr2:135852869-135852869;C/T missense_variant False MCM7@p.D242N 1 0.551724138 ENSG00000166508 chr7:100098287-100098287;C/T missense_variant False MCTP2@p.I627T 1 0.40625 ENSG00000140563 chr15:94399052-94399052;T/C missense_variant False MCPH1@p.N475K 1 0.487804878 ENSG00000147316 chr8:6445147-6445147;T/G missense_variant False MCRS1@p.I412M 1 0.083333333 ENSG00000187778 chr12:49558909-49558909;G/C missense_variant False MCRS1@p.E285K 1 0.076923077 ENSG00000187778 chr12:49560323-49560323;C/T missense_variant False MCRS1@p.E23K 1 0.365853659 ENSG00000187778 chr12:49566159-49566159;C/T missense_variant False MCRIP2@p.T79M 1 0.58974359 ENSG00000172366 chr16:647470-647470;C/T missense_variant False MCRIP2@p.F100I 1 0.25 ENSG00000172366 chr16:647532-647532;T/A missense_variant False MCRIP2@p.E95K 1 0.133333333 ENSG00000172366 chr16:647517-647517;G/A missense_variant False MCPH1@p.E829Q 1 0.090909091 ENSG00000147316 chr8:6643026-6643026;G/C missense_variant False MCOLN3@p.G387A 1 0.307692308 ENSG00000055732 chr1:85022336-85022336;C/G missense_variant False MCPH1@p.E725K 1 0.575342466 ENSG00000147316 chr8:6499888-6499888;G/A missense_variant False MCPH1@p.E681K 1 0.425925926 ENSG00000147316 chr8:6480781-6480781;G/A missense_variant False MCPH1@p.A806T 1 0.129032258 ENSG00000147316 chr8:6621655-6621655;G/A missense_variant False MCPH1@p.A518T 1 0.24691358 ENSG00000147316 chr8:6445274-6445274;G/A missense_variant False MCOLN3@p.R231C 1 0.072289157 ENSG00000055732 chr1:85032737-85032737;G/A missense_variant False MCOLN3@p.L496F 1 0.515151515 ENSG00000055732 chr1:85021111-85021111;G/A missense_variant False MCRS1@p.I452M 1 0.197802198 ENSG00000187778 chr12:49558676-49558676;G/C missense_variant False MCRS1@p.Q204H 1 0.315789474 ENSG00000187778 chr12:49563492-49563492;C/G missense_variant False MCRS1@p.S360L 1 0.451612903 ENSG00000187778 chr12:49559460-49559460;G/A missense_variant False MCTP1@p.D683Ifs*8 1 0.322033898 ENSG00000175471 chr5:94871408-94871408;T/- frameshift_variant False MCTP1@p.D860H 1 0.145833333 ENSG00000175471 chr5:94779142-94779142;C/G missense_variant False MCTP1@p.E765Q 1 0.361702128 ENSG00000175471 chr5:94870440-94870440;C/G missense_variant False MCTP1@p.E863K 1 0.384615385 ENSG00000175471 chr5:94779133-94779133;C/T missense_variant False MCTP1@p.K771I 1 0.396825397 ENSG00000175471 chr5:94870421-94870421;T/A missense_variant False MCTP1@p.N304I 1 0.52173913 ENSG00000175471 chr5:94953289-94953289;T/A missense_variant False MCTP1@p.R480K 1 0.584158416 ENSG00000175471 chr5:94912888-94912888;C/T missense_variant False MCTP1@p.R529T 1 0.225 ENSG00000175471 chr5:94909317-94909317;C/G missense_variant False MCTP1@p.S599F 1 0.578947368 ENSG00000175471 chr5:94894692-94894692;G/A missense_variant False MCTP1@p.V418M 1 0.392857143 ENSG00000175471 chr5:94923982-94923982;C/T missense_variant False MCTP2@p.D243N 1 0.467889908 ENSG00000140563 chr15:94339379-94339379;G/A missense_variant False MCTP2@p.D749H 1 0.093023256 ENSG00000140563 chr15:94442955-94442955;G/C missense_variant False MCTP2@p.G137C 1 0.12244898 ENSG00000140563 chr15:94298674-94298674;G/T missense_variant False MCTP2@p.H171Y 1 0.153846154 ENSG00000140563 chr15:94314327-94314327;C/T missense_variant False MCOLN3@p.K99R 1 0.168674699 ENSG00000055732 chr1:85041110-85041110;T/C missense_variant False MCOLN3@p.C303Wfs*3 1 0.17218543 ENSG00000055732 chr1:85026208-85026209;-/C frameshift_variant False MCM7@p.D53H 1 0.295652174 ENSG00000166508 chr7:100099708-100099708;C/G missense_variant False MCM8@p.K126E 1 0.372340426 ENSG00000125885 chr20:5955141-5955141;A/G missense_variant False MCM9@p.E34K 1 0.274725275 ENSG00000111877 chr6:118931624-118931624;C/T missense_variant False MCM9@p.E282K 1 0.157894737 ENSG00000111877 chr6:118917621-118917621;C/T missense_variant False MCM8@p.S497C 1 0.325581395 ENSG00000125885 chr20:5977970-5977970;C/G missense_variant False MCM8@p.R309Q 1 0.43373494 ENSG00000125885 chr20:5967486-5967486;G/A missense_variant False MCM8@p.P252R 1 0.12 ENSG00000125885 chr20:5958692-5958692;C/G missense_variant False MCM8@p.L689F 1 0.415384615 ENSG00000125885 chr20:5986033-5986033;C/T missense_variant False MCM8@p.I107S 1 0.222222222 ENSG00000125885 chr20:5954674-5954674;T/G missense_variant False MCOLN3@p.A97T 1 0.161764706 ENSG00000055732 chr1:85041117-85041117;C/T missense_variant False MCM8@p.E4Q 1 0.183673469 ENSG00000125885 chr20:5952025-5952025;G/C missense_variant False MCM8@p.E100Q 1 0.18556701 ENSG00000125885 chr20:5954652-5954652;G/C missense_variant False MCM7@p.R527Q 1 0.272401434 ENSG00000166508 chr7:100095789-100095789;C/T missense_variant False MCM7@p.M306I 1 0.153846154 ENSG00000166508 chr7:100097901-100097901;C/A missense_variant False MCM7@p.I634M 1 0.153846154 ENSG00000166508 chr7:100093348-100093348;G/C missense_variant False MCM7@p.D64N 1 0.304347826 ENSG00000166508 chr7:100099675-100099675;C/T missense_variant False MCM9@p.E49K 1 0.148148148 ENSG00000111877 chr6:118931579-118931579;C/T missense_variant False MCM9@p.E49Q 1 0.235294118 ENSG00000111877 chr6:118931579-118931579;C/G missense_variant False MCM9@p.R74Q 1 0.35483871 ENSG00000111877 chr6:118931503-118931503;C/T missense_variant False MCM9@p.S187L 1 0.26984127 ENSG00000111877 chr6:118923872-118923872;G/A missense_variant False MCMBP@p.E534Q 1 0.670588235 ENSG00000197771 chr10:119835653-119835653;C/G missense_variant False MCMBP@p.L393F 1 0.413793103 ENSG00000197771 chr10:119840912-119840912;C/G missense_variant False MCMBP@p.Q496H 1 0.265306122 ENSG00000197771 chr10:119836956-119836956;C/G missense_variant False MCMBP@p.S546F 1 0.282352941 ENSG00000197771 chr10:119835616-119835616;G/A missense_variant False MCMDC2@p.E339K 1 0.274193548 ENSG00000178460 chr8:66883936-66883936;G/A missense_variant False MCMDC2@p.F23C 1 0.234042553 ENSG00000178460 chr8:66874208-66874208;T/G missense_variant False MCMDC2@p.I251S 1 0.395833333 ENSG00000178460 chr8:66880891-66880891;T/G missense_variant False MCMDC2@p.I410T 1 0.583333333 ENSG00000178460 chr8:66891020-66891020;T/C missense_variant False MCMDC2@p.R469K 1 0.177966102 ENSG00000178460 chr8:66896296-66896296;G/A missense_variant False MCMDC2@p.V72A 1 0.295918367 ENSG00000178460 chr8:66874446-66874446;T/C missense_variant False MCOLN1@p.D183H 1 0.476744186 ENSG00000090674 chr19:7526902-7526902;G/C missense_variant False MCOLN1@p.N241D 1 0.220588235 ENSG00000090674 chr19:7527904-7527904;A/G missense_variant False MCOLN1@p.S268N 1 0.229050279 ENSG00000090674 chr19:7528183-7528183;G/A missense_variant False LRRN3@p.S242C 1 0.305263158 ENSG00000173114 chr7:111123497-111123497;C/G missense_variant False LRRN3@p.L289S 1 0.315068493 ENSG00000173114 chr7:111123638-111123638;T/C missense_variant False LRRN3@p.G437R 1 0.333333333 ENSG00000173114 chr7:111124081-111124081;G/A missense_variant False LAMA5@p.A1016T 1 0.138888889 ENSG00000130702 chr20:62333457-62333457;C/T missense_variant False LAMA5@p.E2638K 1 0.5 ENSG00000130702 chr20:62315163-62315163;C/T missense_variant False LAMA5@p.E2140Q 1 0.321428571 ENSG00000130702 chr20:62322097-62322097;C/G missense_variant False LAMA5@p.D2537N 1 0.222222222 ENSG00000130702 chr20:62316926-62316926;C/T missense_variant False LAMA5@p.D2462H 1 0.1 ENSG00000130702 chr20:62317472-62317472;C/G missense_variant False LAMA5@p.D2383N 1 0.109243697 ENSG00000130702 chr20:62318546-62318546;C/T missense_variant False LAMA5@p.D194N 1 0.298245614 ENSG00000130702 chr20:62352349-62352349;C/T missense_variant False LAMA4@p.R1677H 1 0.3375 ENSG00000112769 chr6:112115945-112115945;C/T missense_variant False LAMA5@p.E432K 1 0.333333333 ENSG00000130702 chr20:62346204-62346204;C/T missense_variant False LAMA4@p.R1566L 1 0.433962264 ENSG00000112769 chr6:112119280-112119280;C/A missense_variant False LAMA4@p.P1437A 1 0.279411765 ENSG00000112769 chr6:112122180-112122180;G/C missense_variant False LAMA4@p.M865I 1 0.338461538 ENSG00000112769 chr6:112142191-112142191;C/T missense_variant False LAMA4@p.K666N 1 0.449541284 ENSG00000112769 chr6:112154909-112154909;T/A missense_variant False LAMA4@p.K619T 1 0.296703297 ENSG00000112769 chr6:112155668-112155668;T/G missense_variant False LAMA4@p.I395N 1 0.181818182 ENSG00000112769 chr6:112178126-112178126;A/T missense_variant False LAMA5@p.E2969K 1 0.444444444 ENSG00000130702 chr20:62313138-62313138;C/T missense_variant False LAMA5@p.M909I 1 0.634920635 ENSG00000130702 chr20:62334198-62334198;C/T missense_variant False LARGE1@p.D375Y 1 0.173913043 ENSG00000133424 chr22:33381927-33381927;C/A missense_variant False LAMB1@p.Q1063H 1 0.148148148 ENSG00000091136 chr7:107952114-107952114;C/G missense_variant False LAMB2@p.A1590T 1 0.441860465 ENSG00000172037 chr3:49122176-49122176;C/T missense_variant False LAMB1@p.V99M 1 0.427419355 ENSG00000091136 chr7:107998411-107998411;C/T missense_variant False LAMB1@p.T201N 1 0.145631068 ENSG00000091136 chr7:107986185-107986185;G/T missense_variant False LAMB1@p.S690F 1 0.179104478 ENSG00000091136 chr7:107961246-107961246;G/A missense_variant False LAMB1@p.S192C 1 0.2375 ENSG00000091136 chr7:107986212-107986212;G/C missense_variant False LAMB1@p.R1745T 1 0.638297872 ENSG00000091136 chr7:107924078-107924078;C/G missense_variant False LAMB1@p.L1729V 1 0.303448276 ENSG00000091136 chr7:107924269-107924269;G/C missense_variant False LAMA5@p.S1641F 1 0.181818182 ENSG00000130702 chr20:62327545-62327545;G/A missense_variant False LAMB1@p.F77L 1 0.125 ENSG00000091136 chr7:107998475-107998475;G/T missense_variant False LAMB1@p.E396K 1 0.130434783 ENSG00000091136 chr7:107975692-107975692;C/T missense_variant False LAMB1@p.E1670Q 1 0.156862745 ENSG00000091136 chr7:107926239-107926239;C/G missense_variant False LAMB1@p.E1558Q 1 0.301204819 ENSG00000091136 chr7:107929485-107929485;C/G missense_variant False LAMB1@p.E1202Q 1 0.061643836 ENSG00000091136 chr7:107940146-107940146;C/G missense_variant False LAMA5@p.Y823H 1 0.184210526 ENSG00000130702 chr20:62335036-62335036;A/G missense_variant False LAMA4@p.G218A 1 0.058823529 ENSG00000112769 chr6:112191701-112191701;C/G missense_variant False LAMA4@p.F1670I 1 0.193181818 ENSG00000112769 chr6:112115967-112115967;A/T missense_variant False LAMA4@p.E723K 1 0.228346457 ENSG00000112769 chr6:112150517-112150517;C/T missense_variant False LAMA3@p.G701V 1 0.279069767 ENSG00000053747 chr18:23816442-23816442;G/T missense_variant False LAMA3@p.M1322I 1 0.318181818 ENSG00000053747 chr18:23847498-23847498;G/A missense_variant False LAMA3@p.L2410F 1 0.508196721 ENSG00000053747 chr18:23912782-23912782;G/C missense_variant False LAMA3@p.L1103F 1 0.358024691 ENSG00000053747 chr18:23839900-23839900;C/T missense_variant False LAMA3@p.K2559N 1 0.11627907 ENSG00000053747 chr18:23915321-23915321;A/T missense_variant False LAMA3@p.K1938R 1 0.235294118 ENSG00000053747 chr18:23899042-23899042;A/G missense_variant False LAMA3@p.H2984Y 1 0.278125 ENSG00000053747 chr18:23939310-23939310;C/T missense_variant False LAMA3@p.G560A 1 0.138297872 ENSG00000053747 chr18:23810441-23810441;G/C missense_variant False LAMA4@p.E684Q 1 0.284210526 ENSG00000112769 chr6:112154857-112154857;C/G missense_variant False LAMA3@p.G382S 1 0.443396226 ENSG00000053747 chr18:23763485-23763485;G/A missense_variant False LAMA3@p.G2718V 1 0.29787234 ENSG00000053747 chr18:23921561-23921561;G/T missense_variant False LAMA3@p.G1415E 1 0.458333333 ENSG00000053747 chr18:23857951-23857951;G/A missense_variant False LAMA3@p.F902L 1 0.03626943 ENSG00000053747 chr18:23827350-23827350;C/G missense_variant False LAMA3@p.F1399Sfs*10 1 0.335526316 ENSG00000053747 chr18:23857900-23857913;GCTTTCCTGAGTGT/- frameshift_variant False LAMA3@p.E965K 1 0.218340611 ENSG00000053747 chr18:23833897-23833897;G/A missense_variant False LAMA3@p.M1976I 1 0.211111111 ENSG00000053747 chr18:23899379-23899379;G/A missense_variant False LAMA3@p.M2232I 1 0.308724832 ENSG00000053747 chr18:23905602-23905602;G/A missense_variant False LAMA3@p.P1139T 1 0.4 ENSG00000053747 chr18:23842473-23842473;C/A missense_variant False LAMA3@p.P951L 1 0.164658635 ENSG00000053747 chr18:23833856-23833856;C/T missense_variant False LAMA3@p.Q1950H 1 0.288888889 ENSG00000053747 chr18:23899301-23899301;G/C missense_variant False LAMA3@p.R1008S 1 0.12 ENSG00000053747 chr18:23837018-23837018;C/A missense_variant False LAMA3@p.R1391Q 1 0.662650602 ENSG00000053747 chr18:23857879-23857879;G/A missense_variant False LAMA3@p.R1990K 1 0.418181818 ENSG00000053747 chr18:23899420-23899420;G/A missense_variant False LAMA3@p.S1156F 1 0.190909091 ENSG00000053747 chr18:23842614-23842614;C/T missense_variant False LAMA4@p.C1727R 1 0.333333333 ENSG00000112769 chr6:112114690-112114690;A/G missense_variant False LAMA4@p.D1294N 1 0.356164384 ENSG00000112769 chr6:112131056-112131056;C/T missense_variant False LAMA4@p.D1329N 1 0.291666667 ENSG00000112769 chr6:112130024-112130024;C/T missense_variant False LAMA4@p.D622H 1 0.169642857 ENSG00000112769 chr6:112155660-112155660;C/G missense_variant False LAMA4@p.D649N 1 0.258064516 ENSG00000112769 chr6:112155579-112155579;C/T missense_variant False LAMA4@p.E1642K 1 0.322222222 ENSG00000112769 chr6:112117796-112117796;C/T missense_variant False LAMA4@p.E410D 1 0.140625 ENSG00000112769 chr6:112175440-112175440;T/A missense_variant False LAMA4@p.E458K 1 0.107142857 ENSG00000112769 chr6:112172790-112172790;C/T missense_variant False LAMB2@p.D1631H 1 0.114942529 ENSG00000172037 chr3:49121976-49121976;C/G missense_variant False LAMB2@p.E1431Q 1 0.4375 ENSG00000172037 chr3:49122986-49122986;C/G missense_variant False LAMB2@p.E609Q 1 0.315789474 ENSG00000172037 chr3:49128726-49128726;C/G missense_variant False LAMP1@p.P316L 1 0.647058824 ENSG00000185896 chr13:113321560-113321560;C/T missense_variant False LAMP5@p.A254V 1 0.384615385 ENSG00000125869 chr20:9529738-9529738;C/T missense_variant False LAMP3@p.Q76K 1 0.520710059 ENSG00000078081 chr3:183154215-183154215;G/T missense_variant False LAMP3@p.Q361E 1 0.077363897 ENSG00000078081 chr3:183135753-183135753;G/C missense_variant False LAMP3@p.G393V 1 0.362637363 ENSG00000078081 chr3:183124154-183124154;C/A missense_variant False LAMP2@p.R266H 1 0.157303371 ENSG00000005893 chrX:120446372-120446372;C/T missense_variant False LAMP2@p.K191E 1 0.253968254 ENSG00000005893 chrX:120448011-120448011;T/C missense_variant False LAMP1@p.P311S 1 0.151515152 ENSG00000185896 chr13:113321458-113321458;C/T missense_variant False LAMC2@p.S880L 1 0.227272727 ENSG00000058085 chr1:183237389-183237389;C/T missense_variant False LAMC3@p.V1239A 1 0.333333333 ENSG00000050555 chr9:131077273-131077273;T/C missense_variant False LAMC3@p.Q781H 1 0.4 ENSG00000050555 chr9:131061219-131061219;G/C missense_variant False LAMC3@p.L1136F 1 0.230769231 ENSG00000050555 chr9:131072824-131072824;C/T missense_variant False LAMC3@p.G981D 1 1.0 ENSG00000050555 chr9:131069723-131069723;G/A missense_variant False LAMC3@p.E979K 1 0.482758621 ENSG00000050555 chr9:131069716-131069716;G/A missense_variant False LAMC3@p.E175K 1 0.115789474 ENSG00000050555 chr9:131026434-131026434;G/A missense_variant False LAMP5@p.D46Y 1 0.409638554 ENSG00000125869 chr20:9515524-9515524;G/T missense_variant False LAMP5@p.E94K 1 0.333333333 ENSG00000125869 chr20:9516042-9516042;G/A missense_variant False LAMTOR5@p.D25N 1 0.315789474 ENSG00000134248 chr1:110406342-110406342;C/T missense_variant False LAMTOR5@p.S91C 1 0.293478261 ENSG00000134248 chr1:110401527-110401527;G/C missense_variant False LANCL1@p.L75V 1 0.5 ENSG00000115365 chr2:210455291-210455291;G/C missense_variant False LANCL2@p.D315N 1 0.066037736 ENSG00000132434 chr7:55412024-55412024;G/A missense_variant False LANCL2@p.H71D 1 0.288888889 ENSG00000132434 chr7:55391799-55391799;C/G missense_variant False LANCL2@p.W254C 1 0.462962963 ENSG00000132434 chr7:55401257-55401257;G/C missense_variant False LANCL3@p.P195L 1 0.611111111 ENSG00000147036 chrX:37655698-37655698;C/T missense_variant False LAP3@p.E274K 1 0.18699187 ENSG00000002549 chr4:17588934-17588934;G/A missense_variant False LAP3@p.L495V 1 0.329411765 ENSG00000002549 chr4:17607512-17607512;C/G missense_variant False LAP3@p.R513C 1 0.553191489 ENSG00000002549 chr4:17607566-17607566;C/T missense_variant False LAPTM4A@p.L83V 1 0.388888889 ENSG00000068697 chr2:20037600-20037600;G/C missense_variant False LAPTM4A@p.M57K 1 0.056701031 ENSG00000068697 chr2:20040953-20040953;A/T missense_variant False LAPTM4A@p.M90R 1 0.492753623 ENSG00000068697 chr2:20037578-20037578;A/C missense_variant False LAPTM4B@p.R6W 1 0.684210526 ENSG00000104341 chr8:97775752-97775752;C/T missense_variant False LAPTM5@p.A20T 1 0.52238806 ENSG00000162511 chr1:30757688-30757688;C/T missense_variant False LAMC3@p.D239N 1 0.140740741 ENSG00000050555 chr9:131032081-131032081;G/A missense_variant False LAMC2@p.Q1005H 1 0.257352941 ENSG00000058085 chr1:183239509-183239509;G/C missense_variant False LAMB2@p.E728Q 1 0.642857143 ENSG00000172037 chr3:49126129-49126129;C/G missense_variant False LAMB4@p.D119H 1 0.056818182 ENSG00000091128 chr7:108109218-108109218;C/G missense_variant False LAMB4@p.H1316Y 1 0.367816092 ENSG00000091128 chr7:108049502-108049502;G/A missense_variant False LAMB4@p.G883V 1 0.132352941 ENSG00000091128 chr7:108066399-108066399;C/A missense_variant False LAMB4@p.G1684E 1 0.112676056 ENSG00000091128 chr7:108029138-108029138;C/T missense_variant False LAMB4@p.E875K 1 0.476190476 ENSG00000091128 chr7:108066424-108066424;C/T missense_variant False LAMB4@p.E487K 1 0.275 ENSG00000091128 chr7:108095239-108095239;C/T missense_variant False LAMB4@p.D448N 1 0.527777778 ENSG00000091128 chr7:108098421-108098421;C/T missense_variant False LAMB3@p.S719N 1 0.282608696 ENSG00000196878 chr1:209623707-209623707;C/T missense_variant False LAMC2@p.P385H 1 0.134146341 ENSG00000058085 chr1:183226785-183226785;C/A missense_variant False LAMB3@p.R817C 1 0.478873239 ENSG00000196878 chr1:209623089-209623089;G/A missense_variant False LAMB3@p.E1121D 1 0.285714286 ENSG00000196878 chr1:209616490-209616490;C/G missense_variant False LAMB3@p.E1118K 1 0.058823529 ENSG00000196878 chr1:209616501-209616501;C/T missense_variant False LAMB3@p.C1171Y 1 0.144927536 ENSG00000196878 chr1:209615278-209615278;C/T missense_variant False LAMB2@p.L668V 1 0.318181818 ENSG00000172037 chr3:49128474-49128474;G/C missense_variant False LAMB2@p.F393L 1 0.25 ENSG00000172037 chr3:49130277-49130277;G/C missense_variant False LAMB4@p.Q1580E 1 0.340909091 ENSG00000091128 chr7:108034288-108034288;G/C missense_variant False LAMB4@p.R1437C 1 0.136094675 ENSG00000091128 chr7:108047925-108047925;G/A missense_variant False LAMB4@p.S1079L 1 0.472222222 ENSG00000091128 chr7:108062820-108062820;G/A missense_variant False LAMB4@p.T1350A 1 0.321428571 ENSG00000091128 chr7:108049400-108049400;T/C missense_variant False LAMC1@p.D998N 1 0.246575342 ENSG00000135862 chr1:183127273-183127273;G/A missense_variant False LAMC1@p.L538V 1 0.622222222 ENSG00000135862 chr1:183117367-183117367;C/G missense_variant False LAMC1@p.L571F 1 0.154761905 ENSG00000135862 chr1:183117559-183117559;G/C missense_variant False LAMC1@p.Q1104H 1 0.080645161 ENSG00000135862 chr1:183130375-183130375;G/C missense_variant False LAMC1@p.Q645E 1 0.183673469 ENSG00000135862 chr1:183118089-183118089;C/G missense_variant False LAMC1@p.Q963L 1 0.162601626 ENSG00000135862 chr1:183126206-183126206;A/T missense_variant False LAMC1@p.R1184Q 1 0.384615385 ENSG00000135862 chr1:183131363-183131363;G/A missense_variant False LAMC1@p.R167Q 1 0.417322835 ENSG00000135862 chr1:183103409-183103409;G/A missense_variant False LAMC1@p.V1377L 1 0.416666667 ENSG00000135862 chr1:183136400-183136400;G/C missense_variant False LAMC2@p.D532H 1 0.460526316 ENSG00000058085 chr1:183228499-183228499;G/C missense_variant False LAMC2@p.E1052Q 1 0.19266055 ENSG00000058085 chr1:183240124-183240124;G/C missense_variant False LAMC2@p.E182K 1 0.117117117 ENSG00000058085 chr1:183220865-183220865;G/A missense_variant False LAMC2@p.N521K 1 0.492063492 ENSG00000058085 chr1:183228468-183228468;C/A missense_variant False LAMA3@p.E481Q 1 0.339449541 ENSG00000053747 chr18:23777592-23777592;G/C missense_variant False LAMA3@p.E431K 1 0.230769231 ENSG00000053747 chr18:23775809-23775809;G/A missense_variant False LAMA3@p.E3317K 1 0.241935484 ENSG00000053747 chr18:23954595-23954595;G/A missense_variant False L1CAM@p.D1210N 1 0.319444444 ENSG00000198910 chrX:153862809-153862809;C/T missense_variant False L1TD1@p.E138K 1 0.151515152 ENSG00000240563 chr1:62207040-62207040;G/A missense_variant False L1CAM@p.R971W 1 0.355140187 ENSG00000198910 chrX:153864956-153864956;G/A missense_variant False L1CAM@p.Q470H 1 0.536585366 ENSG00000198910 chrX:153868697-153868697;C/A missense_variant False L1CAM@p.P835L 1 0.295857988 ENSG00000198910 chrX:153865747-153865747;G/A missense_variant False L1CAM@p.E822Q 1 0.223021583 ENSG00000198910 chrX:153865787-153865787;C/G missense_variant False L1CAM@p.D471Y 1 0.536585366 ENSG00000198910 chrX:153868696-153868696;C/A missense_variant False KYNU@p.L251Q 1 0.353846154 ENSG00000115919 chr2:142985106-142985106;T/A missense_variant False KTN1@p.L567V 1 0.132075472 ENSG00000126777 chr14:55637347-55637347;C/G missense_variant False KYAT3@p.S255C 1 0.210191083 ENSG00000137944 chr1:88961190-88961190;G/C missense_variant False KYAT3@p.E358K 1 0.194444444 ENSG00000137944 chr1:88949160-88949160;C/T missense_variant False KYAT3@p.E336Q 1 0.384615385 ENSG00000137944 chr1:88949226-88949226;C/G missense_variant False KY@p.L402F 1 0.245901639 ENSG00000174611 chr3:134604359-134604359;C/A missense_variant False KY@p.K165N 1 0.7 ENSG00000174611 chr3:134620846-134620846;C/G missense_variant False KXD1@p.E97Q 1 0.306122449 ENSG00000105700 chr19:18567166-18567166;G/C missense_variant False L1TD1@p.E436Q 1 0.138888889 ENSG00000240563 chr1:62210080-62210080;G/C missense_variant False L1TD1@p.L856F 1 0.397260274 ENSG00000240563 chr1:62211342-62211342;G/C missense_variant False L2HGDH@p.D275H 1 0.427631579 ENSG00000087299 chr14:50269246-50269246;C/G missense_variant False L2HGDH@p.D347N 1 0.081967213 ENSG00000087299 chr14:50267778-50267778;C/T missense_variant False L2HGDH@p.F315L 1 0.102189781 ENSG00000087299 chr14:50267872-50267872;G/C missense_variant False L3HYPDH@p.E149K 1 0.647058824 ENSG00000126790 chr14:59483872-59483872;C/T missense_variant False L3HYPDH@p.R51Q 1 0.454545455 ENSG00000126790 chr14:59484165-59484165;C/T missense_variant False L3MBTL1@p.D470H 1 0.076271186 ENSG00000185513 chr20:43532896-43532896;G/C missense_variant False L3MBTL1@p.E278K 1 0.209876543 ENSG00000185513 chr20:43516147-43516147;G/A missense_variant False L3MBTL1@p.F215L 1 0.442622951 ENSG00000185513 chr20:43515151-43515151;C/G missense_variant False L3MBTL1@p.G438A 1 0.108333333 ENSG00000185513 chr20:43532801-43532801;G/C missense_variant False L3MBTL1@p.S377C 1 0.102564103 ENSG00000185513 chr20:43530357-43530357;C/G missense_variant False L3MBTL2@p.D222N 1 0.435643564 ENSG00000100395 chr22:41219482-41219482;G/A missense_variant False L3MBTL2@p.E677Q 1 0.215686275 ENSG00000100395 chr22:41230162-41230162;G/C missense_variant False L3MBTL3@p.E645Q 1 0.118181818 ENSG00000198945 chr6:130120925-130120925;G/C missense_variant False L3MBTL3@p.H432R 1 0.175925926 ENSG00000198945 chr6:130078608-130078608;A/G missense_variant False L3MBTL3@p.K383N 1 0.173913043 ENSG00000198945 chr6:130071032-130071032;G/C missense_variant False KTN1@p.Q901E 1 0.216216216 ENSG00000126777 chr14:55653023-55653023;C/G missense_variant False KTN1@p.K63_K65del 1 0.13559322 ENSG00000126777 chr14:55612235-55612243;AAAAAGAAA/- inframe_deletion False L3MBTL3@p.S651L 1 0.172043011 ENSG00000198945 chr6:130120944-130120944;C/T missense_variant False KRTAP8-1@p.Y21S 1 0.954545455 ENSG00000183640 chr21:30813159-30813159;T/G missense_variant False KRTCAP2@p.E74K 1 0.316666667 ENSG00000163463 chr1:155172568-155172568;C/T missense_variant False KRTAP9-9@p.E146K 1 0.221875 ENSG00000198083 chr17:41255821-41255821;G/A missense_variant False KRTAP9-8@p.P7A 1 0.388235294 ENSG00000187272 chr17:41238070-41238070;C/G missense_variant False KRTAP9-8@p.C4G 1 0.18018018 ENSG00000187272 chr17:41238061-41238061;T/G missense_variant False KRTAP9-4@p.R102K 1 0.308641975 ENSG00000241595 chr17:41250025-41250025;G/A missense_variant False KRTAP9-2@p.A41D 1 0.061403509 ENSG00000239886 chr17:41226776-41226776;C/A missense_variant False KRTAP6-2@p.G45S 1 0.255813953 ENSG00000186930 chr21:30598742-30598742;C/T missense_variant False KTN1@p.I130M 1 0.260416667 ENSG00000126777 chr14:55612438-55612438;C/G missense_variant False KRTAP6-2@p.G22R 1 0.235955056 ENSG00000186930 chr21:30598811-30598811;C/G missense_variant False KRTAP5-7@p.V157F 1 0.403061224 ENSG00000244411 chr11:71527769-71527769;G/T missense_variant False KRTAP5-6@p.S102L 1 0.485294118 ENSG00000205864 chr11:1697550-1697550;C/T missense_variant False KRTAP5-5@p.G148C 1 0.587628866 ENSG00000185940 chr11:1630282-1630282;G/T missense_variant False KRTAP5-1@p.S159C 1 0.110344828 ENSG00000205869 chr11:1584774-1584774;G/C missense_variant False KRTAP5-11@p.S72Afs*99 1 0.170731707 ENSG00000204571 chr11:71582625-71582625;C/- frameshift_variant False KRTCAP3@p.M209I 1 0.101694915 ENSG00000157992 chr2:27443960-27443960;G/A missense_variant False KRTCAP3@p.R84S 1 0.091954023 ENSG00000157992 chr2:27442880-27442880;G/C missense_variant False KSR1@p.E771K 1 0.455882353 ENSG00000141068 chr17:27610152-27610152;G/A missense_variant False KSR1@p.R417K 1 0.533333333 ENSG00000141068 chr17:27592577-27592577;G/A missense_variant False KSR2@p.Q896H 1 0.5 ENSG00000171435 chr12:117471215-117471215;C/G missense_variant False KSR2@p.R463L 1 0.132075472 ENSG00000171435 chr12:117558511-117558511;C/A missense_variant False KSR2@p.R587Q 1 0.293577982 ENSG00000171435 chr12:117530983-117530983;C/T missense_variant False KSR2@p.S749C 1 0.153846154 ENSG00000171435 chr12:117485665-117485665;G/C missense_variant False KSR2@p.V427I 1 0.636363636 ENSG00000171435 chr12:117579165-117579165;C/T missense_variant False KSR2@p.W166L 1 0.345454545 ENSG00000171435 chr12:117761500-117761500;C/A missense_variant False KTI12@p.D296N 1 0.158940397 ENSG00000198841 chr1:52032876-52032876;C/T missense_variant False KTI12@p.D74Y 1 0.209302326 ENSG00000198841 chr1:52033542-52033542;C/A missense_variant False KTI12@p.E139K 1 0.176 ENSG00000198841 chr1:52033347-52033347;C/T missense_variant False KTI12@p.E28K 1 0.333333333 ENSG00000198841 chr1:52033680-52033680;C/T missense_variant False KTN1@p.D679H 1 0.318181818 ENSG00000126777 chr14:55641140-55641140;G/C missense_variant False KTN1@p.D76N 1 0.255319149 ENSG00000126777 chr14:55612274-55612274;G/A missense_variant False KTN1@p.E1195K 1 0.425531915 ENSG00000126777 chr14:55672681-55672681;G/A missense_variant False L3MBTL3@p.R433K 1 0.114035088 ENSG00000198945 chr6:130078611-130078611;G/A missense_variant False L3MBTL4@p.E91Q 1 0.160305344 ENSG00000154655 chr18:6244537-6244537;C/G missense_variant False LAMA3@p.E3163K 1 0.25748503 ENSG00000053747 chr18:23949900-23949900;G/A missense_variant False LAMA2@p.F1329V 1 0.391891892 ENSG00000196569 chr6:129316098-129316098;T/G missense_variant False LAMA2@p.K1084N 1 0.375 ENSG00000196569 chr6:129312938-129312938;A/T missense_variant False LAMA2@p.G693E 1 0.093023256 ENSG00000196569 chr6:129252277-129252277;G/A missense_variant False LAMA2@p.G2946R 1 0.216101695 ENSG00000196569 chr6:129507621-129507621;G/C missense_variant False LAMA2@p.G2250E 1 0.797297297 ENSG00000196569 chr6:129456376-129456376;G/A missense_variant False LAMA2@p.G1038A 1 0.25974026 ENSG00000196569 chr6:129300811-129300811;G/C missense_variant False LAMA2@p.F698S 1 0.511111111 ENSG00000196569 chr6:129252292-129252292;T/C missense_variant False LAMA2@p.E1630K 1 0.275 ENSG00000196569 chr6:129369919-129369919;G/A missense_variant False LAMA1@p.R2443K 1 0.148148148 ENSG00000101680 chr18:6964671-6964671;C/T missense_variant False LAMA2@p.E1191K 1 0.242424242 ENSG00000196569 chr6:129315491-129315491;G/A missense_variant False LAMA2@p.D262H 1 0.389830508 ENSG00000196569 chr6:129144045-129144045;G/C missense_variant False LAMA2@p.D159H 1 0.196850394 ENSG00000196569 chr6:129098251-129098251;G/C missense_variant False LAMA2@p.D1490N 1 0.2 ENSG00000196569 chr6:129349329-129349329;G/A missense_variant False LAMA1@p.V600I 1 0.295081967 ENSG00000101680 chr18:7036028-7036028;C/T missense_variant False LAMA1@p.S725C 1 0.375 ENSG00000101680 chr18:7032166-7032166;G/C missense_variant False LAMA2@p.L1582V 1 0.5 ENSG00000196569 chr6:129366245-129366245;C/G missense_variant False LAMA2@p.M1594I 1 0.247933884 ENSG00000196569 chr6:129366283-129366283;G/C missense_variant False LAMA2@p.P1538Qfs*52 1 0.271604938 ENSG00000196569 chr6:129353252-129353267;CCCTGTGACCCTGTCA/- frameshift_variant False LAMA2@p.P2679H 1 0.361111111 ENSG00000196569 chr6:129492038-129492038;C/A missense_variant False LAMA2@p.Q1404E 1 0.4 ENSG00000196569 chr6:129328311-129328311;C/G missense_variant False LAMA2@p.R399T 1 0.162790698 ENSG00000196569 chr6:129154673-129154673;G/C missense_variant False LAMA2@p.R499C 1 0.5 ENSG00000196569 chr6:129190232-129190232;C/T missense_variant False LAMA2@p.S2373L 1 0.420454545 ENSG00000196569 chr6:129464415-129464415;C/T missense_variant False LAMA2@p.S476Rfs*65 1 0.239669421 ENSG00000196569 chr6:129177827-129177827;C/- frameshift_variant False LAMA3@p.D167N 1 0.229885057 ENSG00000053747 chr18:23747994-23747994;G/A missense_variant False LAMA3@p.D2789N 1 0.155555556 ENSG00000053747 chr18:23928694-23928694;G/A missense_variant False LAMA3@p.D668H 1 0.195652174 ENSG00000053747 chr18:23815528-23815528;G/C missense_variant False LAMA3@p.E1341Q 1 0.489795918 ENSG00000053747 chr18:23847553-23847553;G/C missense_variant False LAMA3@p.E1838V 1 0.117647059 ENSG00000053747 chr18:23894958-23894958;A/T missense_variant False LAMA3@p.E1903K 1 0.14893617 ENSG00000053747 chr18:23898831-23898831;G/A missense_variant False LAMA3@p.E2058Q 1 0.219512195 ENSG00000053747 chr18:23901294-23901294;G/C missense_variant False LAMA3@p.E2667Q 1 0.142857143 ENSG00000053747 chr18:23921010-23921010;G/C missense_variant False LAMA1@p.S2307F 1 0.3125 ENSG00000101680 chr18:6966277-6966277;G/A missense_variant False LAMA1@p.R1814T 1 0.36123348 ENSG00000101680 chr18:6985582-6985582;C/G missense_variant False L3MBTL4@p.L257V 1 0.173913043 ENSG00000154655 chr18:6237979-6237979;G/C missense_variant False LACTB@p.R24Q 1 0.4 ENSG00000103642 chr15:63121942-63121942;G/A missense_variant False LAIR1@p.E81K 1 0.207070707 ENSG00000167613 chr19:54361039-54361039;C/T missense_variant False LAG3@p.Q390H 1 0.37037037 ENSG00000089692 chr12:6777376-6777376;G/C missense_variant False LAD1@p.S498C 1 0.225352113 ENSG00000159166 chr1:201382307-201382307;G/C missense_variant False LAD1@p.E501D 1 0.648514851 ENSG00000159166 chr1:201382297-201382297;C/G missense_variant False LAD1@p.E351K 1 0.172839506 ENSG00000159166 chr1:201385781-201385781;C/T missense_variant False LAD1@p.E228Q 1 0.09375 ENSG00000159166 chr1:201386679-201386679;C/G missense_variant False LACTB@p.E457K 1 0.298076923 ENSG00000103642 chr15:63141530-63141530;G/A missense_variant False LAMA1@p.Q442K 1 0.095238095 ENSG00000101680 chr18:7040174-7040174;G/T missense_variant False LACTB2@p.R14L 1 0.137931034 ENSG00000147592 chr8:70669080-70669080;C/A missense_variant False LACTB2@p.E251D 1 0.642857143 ENSG00000147592 chr8:70638618-70638618;C/G missense_variant False LACC1@p.F118C 1 0.446153846 ENSG00000179630 chr13:43881338-43881338;T/G missense_variant False LACC1@p.D55N 1 0.107692308 ENSG00000179630 chr13:43881148-43881148;G/A missense_variant False L3MBTL4@p.S45L 1 0.090909091 ENSG00000154655 chr18:6264032-6264032;G/A missense_variant False L3MBTL4@p.S41R 1 0.175438596 ENSG00000154655 chr18:6301907-6301907;A/C missense_variant False LAIR1@p.R234K 1 0.326530612 ENSG00000167613 chr19:54355970-54355970;C/T missense_variant False LAIR2@p.E83Q 1 0.2 ENSG00000167618 chr19:54508067-54508067;G/C missense_variant False LAIR2@p.S32L 1 0.247093023 ENSG00000167618 chr19:54507915-54507915;C/T missense_variant False LAMA1@p.D1093E 1 0.136363636 ENSG00000101680 chr18:7013899-7013899;G/T missense_variant False LAMA1@p.D510N 1 0.07826087 ENSG00000101680 chr18:7038845-7038845;C/T missense_variant False LAMA1@p.D544H 1 0.098039216 ENSG00000101680 chr18:7037685-7037685;C/G missense_variant False LAMA1@p.D810Y 1 0.119047619 ENSG00000101680 chr18:7024441-7024441;C/A missense_variant False LAMA1@p.E1318Q 1 0.202531646 ENSG00000101680 chr18:7009288-7009288;C/G missense_variant False LAMA1@p.E1742K 1 0.102484472 ENSG00000101680 chr18:6986292-6986292;C/T missense_variant False LAMA1@p.E1890Q 1 0.096774194 ENSG00000101680 chr18:6983227-6983227;C/G missense_variant False LAMA1@p.E193Q 1 0.305555556 ENSG00000101680 chr18:7050705-7050705;C/G missense_variant False LAMA1@p.G2476V 1 0.06614786 ENSG00000101680 chr18:6961970-6961970;C/A missense_variant False LAMA1@p.H1456Y 1 0.22972973 ENSG00000101680 chr18:7002280-7002280;G/A missense_variant False LAMA1@p.K1068E 1 0.181818182 ENSG00000101680 chr18:7013976-7013976;T/C missense_variant False LAMA1@p.L1686I 1 0.100775194 ENSG00000101680 chr18:6992673-6992673;G/T missense_variant False LAMA1@p.L1805V 1 0.12745098 ENSG00000101680 chr18:6985610-6985610;G/C missense_variant False LAMA1@p.P1351A 1 0.211764706 ENSG00000101680 chr18:7008559-7008559;G/C missense_variant False LAPTM5@p.I200M 1 0.318181818 ENSG00000162511 chr1:30737610-30737610;G/C missense_variant False LARGE1@p.M524I 1 0.384615385 ENSG00000133424 chr22:33304387-33304387;C/T missense_variant False KRTAP5-10@p.G103Afs*124 1 0.317073171 ENSG00000204572 chr11:71565894-71565895;-/CTGTGGCTCCTGTGGGGGCTCCAAGGGGA frameshift_variant False LCTL@p.Q170H 1 0.158273381 ENSG00000188501 chr15:66561286-66561286;C/G missense_variant False LDB1@p.E353K 1 0.206349206 ENSG00000198728 chr10:102108266-102108266;C/T missense_variant False LDAH@p.R177K 1 0.209876543 ENSG00000118961 chr2:20740144-20740144;C/T missense_variant False LDAH@p.E8K 1 0.070175439 ENSG00000118961 chr2:20801442-20801442;C/T missense_variant False LDAH@p.E277Q 1 0.174603175 ENSG00000118961 chr2:20687052-20687052;C/G missense_variant False LDAH@p.E222A 1 0.470149254 ENSG00000118961 chr2:20740009-20740009;T/G missense_variant False LCTL@p.R481I 1 0.382978723 ENSG00000188501 chr15:66551744-66551744;C/A missense_variant False LCTL@p.N437S 1 0.435897436 ENSG00000188501 chr15:66552057-66552057;T/C missense_variant False LDB2@p.E34K 1 0.458064516 ENSG00000169744 chr4:16898386-16898386;C/T missense_variant False LCTL@p.L379M 1 0.143939394 ENSG00000188501 chr15:66553046-66553046;G/T missense_variant False LCTL@p.K333T 1 0.197879859 ENSG00000188501 chr15:66553183-66553183;T/G missense_variant False LCTL@p.E133K 1 0.456521739 ENSG00000188501 chr15:66563599-66563599;C/T missense_variant False LCTL@p.D180Y 1 0.432291667 ENSG00000188501 chr15:66561258-66561258;C/A missense_variant False LCT@p.W1259C 1 0.329192547 ENSG00000115850 chr2:135808570-135808570;C/G missense_variant False LCT@p.R1770W 1 0.27027027 ENSG00000115850 chr2:135790685-135790685;G/A missense_variant False LDB1@p.G349R 1 0.176470588 ENSG00000198728 chr10:102108278-102108278;C/G missense_variant False LDB2@p.R166Q 1 0.337209302 ENSG00000169744 chr4:16588744-16588744;C/T missense_variant False LARGE1@p.R365C 1 0.131578947 ENSG00000133424 chr22:33381957-33381957;G/A missense_variant False LDHB@p.D333H 1 0.056179775 ENSG00000111716 chr12:21635550-21635550;C/G missense_variant False LDLR@p.E101K 1 0.24822695 ENSG00000130164 chr19:11102774-11102774;G/A missense_variant False LDHD@p.W15C 1 0.380530973 ENSG00000166816 chr16:75116676-75116676;C/G missense_variant False LDHD@p.R87C 1 0.163716814 ENSG00000166816 chr16:75115266-75115266;G/A missense_variant False LDHC@p.R297Q 1 0.103448276 ENSG00000166796 chr11:18451018-18451018;G/A missense_variant False LDHC@p.E10D 1 0.432989691 ENSG00000166796 chr11:18412747-18412747;G/T missense_variant False LDHB@p.L51V 1 0.444444444 ENSG00000111716 chr12:21646995-21646995;G/C missense_variant False LDHAL6B@p.G252A 1 0.207792208 ENSG00000171989 chr15:59207695-59207695;G/C missense_variant False LDB2@p.R31Q 1 0.233766234 ENSG00000169744 chr4:16898394-16898394;C/T missense_variant False LDHAL6B@p.A136G 1 0.245614035 ENSG00000171989 chr15:59207347-59207347;C/G missense_variant False LDHAL6A@p.L214M 1 0.480519481 ENSG00000166800 chr11:18476431-18476431;C/A missense_variant False LDB3@p.Y602N 1 0.30952381 ENSG00000122367 chr10:86718091-86718091;T/A missense_variant False LDB3@p.G35S 1 0.457627119 ENSG00000122367 chr10:86679376-86679376;G/A missense_variant False LDB3@p.E259K 1 0.109090909 ENSG00000122367 chr10:86691981-86691981;G/A missense_variant False LDB3@p.D291Y 1 0.907692308 ENSG00000122367 chr10:86692546-86692546;G/T missense_variant False LCT@p.R1175S 1 0.152173913 ENSG00000115850 chr2:135808822-135808822;C/G missense_variant False LCT@p.P718S 1 0.353846154 ENSG00000115850 chr2:135812512-135812512;G/A missense_variant False LCT@p.H633L 1 0.222222222 ENSG00000115850 chr2:135812766-135812766;T/A missense_variant False LCOR@p.E734Q 1 0.066666667 ENSG00000196233 chr10:96982660-96982660;G/C missense_variant False LCOR@p.W1149L 1 0.113636364 ENSG00000196233 chr10:96983906-96983906;G/T missense_variant False LCOR@p.S764R 1 0.417857143 ENSG00000196233 chr10:96982750-96982750;A/C missense_variant False LCOR@p.R1311T 1 0.14953271 ENSG00000196233 chr10:96984392-96984392;G/C missense_variant False LCOR@p.M718I 1 0.285714286 ENSG00000196233 chr10:96982614-96982614;G/A missense_variant False LCOR@p.K1466N 1 0.128205128 ENSG00000196233 chr10:96984858-96984858;G/C missense_variant False LCOR@p.E760K 1 0.440217391 ENSG00000196233 chr10:96982738-96982738;G/A missense_variant False LCOR@p.E317Q 1 0.586206897 ENSG00000196233 chr10:96955569-96955569;G/C missense_variant False LCT@p.H507R 1 0.117647059 ENSG00000115850 chr2:135817528-135817528;T/C missense_variant False LCOR@p.E226K 1 0.257731959 ENSG00000196233 chr10:96955296-96955296;G/A missense_variant False LCOR@p.E1474Q 1 0.2875 ENSG00000196233 chr10:96984880-96984880;G/C missense_variant False LCOR@p.E1005K 1 0.186666667 ENSG00000196233 chr10:96983473-96983473;G/A missense_variant False LCOR@p.D823N 1 0.227848101 ENSG00000196233 chr10:96982927-96982927;G/A missense_variant False LCOR@p.D410N 1 0.170731707 ENSG00000196233 chr10:96955848-96955848;G/A missense_variant False LCOR@p.D271N 1 0.12605042 ENSG00000196233 chr10:96955431-96955431;G/A missense_variant False LCORL@p.C1869F 1 0.330188679 ENSG00000178177 chr4:17845898-17845898;C/A missense_variant False LCORL@p.E54D 1 0.393939394 ENSG00000178177 chr4:17972878-17972878;C/G missense_variant False LCORL@p.I241R 1 0.183673469 ENSG00000178177 chr4:17886122-17886122;A/C missense_variant False LCP1@p.D176N 1 0.471698113 ENSG00000136167 chr13:46154852-46154852;C/T missense_variant False LCP1@p.R373T 1 0.166666667 ENSG00000136167 chr13:46146964-46146964;C/G missense_variant False LCP1@p.S588C 1 0.62 ENSG00000136167 chr13:46127712-46127712;G/C missense_variant False LCP2@p.D127N 1 0.28125 ENSG00000043462 chr5:170270863-170270863;C/T missense_variant False LCP2@p.G395S 1 0.333333333 ENSG00000043462 chr5:170253181-170253181;C/T missense_variant False LCP2@p.L436V 1 0.666666667 ENSG00000043462 chr5:170252451-170252451;G/C missense_variant False LCP2@p.R521K 1 0.091346154 ENSG00000043462 chr5:170248737-170248737;C/T missense_variant False LCP2@p.S268W 1 0.118644068 ENSG00000043462 chr5:170262857-170262857;G/C missense_variant False LCT@p.D1237N 1 0.159574468 ENSG00000115850 chr2:135808638-135808638;C/T missense_variant False LCT@p.D486N 1 0.08 ENSG00000115850 chr2:135817592-135817592;C/T missense_variant False LCT@p.E1263K 1 0.517241379 ENSG00000115850 chr2:135808560-135808560;C/T missense_variant False LCT@p.E1806K 1 0.585714286 ENSG00000115850 chr2:135789718-135789718;C/T missense_variant False LCT@p.E208K 1 0.676190476 ENSG00000115850 chr2:135836548-135836548;C/T missense_variant False LCT@p.G1006C 1 0.078947368 ENSG00000115850 chr2:135809331-135809331;C/A missense_variant False LDLR@p.E179Q 1 0.590909091 ENSG00000130164 chr19:11105441-11105441;G/C missense_variant False LDLR@p.L187V 1 0.157303371 ENSG00000130164 chr19:11105465-11105465;C/G missense_variant False LDLR@p.P539H 1 0.439393939 ENSG00000130164 chr19:11116123-11116123;C/A missense_variant False LEO1@p.P354S 1 0.102040816 ENSG00000166477 chr15:51959999-51959999;G/A missense_variant False LEPR@p.K544E 1 0.13559322 ENSG00000116678 chr1:65608779-65608779;A/G missense_variant False LEPR@p.K149N 1 0.428571429 ENSG00000116678 chr1:65572402-65572402;G/T missense_variant False LEPR@p.K1097T 1 0.140625 ENSG00000116678 chr1:65636807-65636807;A/C missense_variant False LEPR@p.E914K 1 0.102439024 ENSG00000116678 chr1:65636257-65636257;G/A missense_variant False LEO1@p.S229F 1 0.313043478 ENSG00000166477 chr15:51965877-51965877;G/A missense_variant False LEO1@p.R201T 1 0.118055556 ENSG00000166477 chr15:51965961-51965961;C/G missense_variant False LEO1@p.E580K 1 0.309278351 ENSG00000166477 chr15:51949868-51949868;C/T missense_variant False LENG9@p.Q336H 1 0.202531646 ENSG00000275183 chr19:54462519-54462519;C/A missense_variant False LEO1@p.E206K 1 0.270042194 ENSG00000166477 chr15:51965947-51965947;C/T missense_variant False LEO1@p.E200K 1 0.446700508 ENSG00000166477 chr15:51965965-51965965;C/T missense_variant False LEO1@p.D78G 1 0.446327684 ENSG00000166477 chr15:51966330-51966330;T/C missense_variant False LEO1@p.D65N 1 0.092920354 ENSG00000166477 chr15:51966370-51966370;C/T missense_variant False LEO1@p.D400H 1 0.234693878 ENSG00000166477 chr15:51958789-51958789;C/G missense_variant False LEO1@p.D247H 1 0.212962963 ENSG00000166477 chr15:51965824-51965824;C/G missense_variant False LEPR@p.L760V 1 0.185714286 ENSG00000116678 chr1:65618029-65618029;C/G missense_variant False LEPR@p.P628Q 1 0.452554745 ENSG00000116678 chr1:65610077-65610077;C/A missense_variant False LEPR@p.S289L 1 0.170940171 ENSG00000116678 chr1:65598676-65598676;C/T missense_variant False LEPR@p.T510P 1 0.174863388 ENSG00000116678 chr1:65605162-65605162;A/C missense_variant False LEPROT@p.R90S 1 0.070921986 ENSG00000213625 chr1:65430037-65430037;C/A missense_variant False LEPROT@p.V102M 1 0.06122449 ENSG00000213625 chr1:65431827-65431827;G/A missense_variant False LETM1@p.E364K 1 0.142857143 ENSG00000168924 chr4:1825674-1825674;C/T missense_variant False LETMD1@p.I317T 1 0.190909091 ENSG00000050426 chr12:51058066-51058066;T/C missense_variant False LETMD1@p.L128F 1 0.170731707 ENSG00000050426 chr12:51052201-51052201;G/C missense_variant False LETMD1@p.P162S 1 0.326315789 ENSG00000050426 chr12:51055845-51055845;C/T missense_variant False LETMD1@p.P20S 1 0.111111111 ENSG00000050426 chr12:51048414-51048414;C/T missense_variant False LETMD1@p.R223G 1 0.31372549 ENSG00000050426 chr12:51056150-51056150;C/G missense_variant False LFNG@p.F311L 1 0.25 ENSG00000106003 chr7:2526355-2526355;C/G missense_variant False LFNG@p.N162K 1 0.739130435 ENSG00000106003 chr7:2525223-2525223;C/G missense_variant False LGALS13@p.I27M 1 0.262711864 ENSG00000105198 chr19:39604667-39604667;C/G missense_variant False LGALS13@p.S134L 1 0.428571429 ENSG00000105198 chr19:39607320-39607320;C/T missense_variant False LGALS13@p.S29C 1 0.428571429 ENSG00000105198 chr19:39604672-39604672;C/G missense_variant False LEO1@p.D149Y 1 0.248677249 ENSG00000166477 chr15:51966118-51966118;C/A missense_variant False LENG9@p.A214V 1 0.372093023 ENSG00000275183 chr19:54462886-54462886;G/A missense_variant False LDLRAD1@p.S194Y 1 0.184615385 ENSG00000203985 chr1:54009019-54009019;G/T missense_variant False LDLRAP1@p.E257K 1 0.488888889 ENSG00000157978 chr1:25565194-25565194;G/A missense_variant False LECT2@p.E140K 1 0.375796178 ENSG00000145826 chr5:135947369-135947369;C/T missense_variant False LECT2@p.A68P 1 0.2 ENSG00000145826 chr5:135951310-135951310;C/G missense_variant False LEAP2@p.E27Q 1 0.620689655 ENSG00000164406 chr5:132873971-132873971;G/C missense_variant False LDOC1@p.I68S 1 0.085714286 ENSG00000182195 chrX:141176819-141176819;A/C missense_variant False LDOC1@p.E36K 1 0.333333333 ENSG00000182195 chrX:141176916-141176916;C/T missense_variant False LDLRAP1@p.K72N 1 0.367346939 ENSG00000157978 chr1:25554049-25554049;G/C missense_variant False LDLRAP1@p.A156T 1 0.384615385 ENSG00000157978 chr1:25562650-25562650;G/A missense_variant False LENG8@p.Q644P 1 0.227272727 ENSG00000167615 chr19:54458131-54458131;A/C missense_variant False LDLRAD4@p.P54L 1 0.068493151 ENSG00000168675 chr18:13438364-13438364;C/T missense_variant False LDLRAD4@p.P182S 1 0.09057971 ENSG00000168675 chr18:13645280-13645280;C/T missense_variant False LDLRAD4@p.D193Y 1 0.137096774 ENSG00000168675 chr18:13645313-13645313;G/T missense_variant False LDLRAD3@p.E343Q 1 0.12345679 ENSG00000179241 chr11:36229386-36229386;G/C missense_variant False LDLRAD2@p.D105N 1 0.441860465 ENSG00000187942 chr1:21814625-21814625;G/A missense_variant False LDLRAD1@p.S197C 1 0.131147541 ENSG00000203985 chr1:54009010-54009010;G/C missense_variant False LECT2@p.K109N 1 0.426829268 ENSG00000145826 chr5:135947460-135947460;C/G missense_variant False LECT2@p.S3C 1 0.157894737 ENSG00000145826 chr5:135954826-135954826;G/C missense_variant False LEF1@p.E60Q 1 0.303797468 ENSG00000138795 chr4:108167590-108167590;C/G missense_variant False LEF1@p.K376N 1 0.370967742 ENSG00000138795 chr4:108064373-108064373;C/A missense_variant False LEF1@p.P118R 1 0.242105263 ENSG00000138795 chr4:108163629-108163629;G/C missense_variant False LEF1@p.P302L 1 0.306451613 ENSG00000138795 chr4:108078323-108078323;G/A missense_variant False LEFTY2@p.S223W 1 0.214285714 ENSG00000143768 chr1:225939430-225939430;G/C missense_variant False LEMD1@p.L156F 1 0.263157895 ENSG00000186007 chr1:205381736-205381736;C/G missense_variant False LEMD1@p.W147C 1 0.176165803 ENSG00000186007 chr1:205381763-205381763;C/G missense_variant False LEMD2@p.W490C 1 0.506024096 ENSG00000161904 chr6:33772670-33772670;C/G missense_variant False LEMD3@p.C639R 1 0.166666667 ENSG00000174106 chr12:65238808-65238808;T/C missense_variant False LEMD3@p.L17F 1 0.307692308 ENSG00000174106 chr12:65169645-65169645;C/T missense_variant False LEMD3@p.S419F 1 0.224299065 ENSG00000174106 chr12:65170852-65170852;C/T missense_variant False LENG1@p.G118D 1 0.216666667 ENSG00000105617 chr19:54156985-54156985;C/T missense_variant False LENG1@p.G86R 1 0.571428571 ENSG00000105617 chr19:54158338-54158338;C/G missense_variant False LENG8@p.G389C 1 0.244897959 ENSG00000167615 chr19:54456106-54456106;G/T missense_variant False LENG8@p.K355Q 1 0.45 ENSG00000167615 chr19:54456004-54456004;A/C missense_variant False LCOR@p.C594S 1 0.095238095 ENSG00000196233 chr10:96982240-96982240;T/A missense_variant False LCN9@p.Y28C 1 0.46031746 ENSG00000148386 chr9:135663404-135663404;A/G missense_variant False LCN8@p.G144R 1 0.666666667 ENSG00000204001 chr9:136755304-136755304;C/T missense_variant False LAS1L@p.D109H 1 0.285714286 ENSG00000001497 chrX:65533647-65533647;C/G missense_variant False LASP1@p.D236N 1 0.474285714 ENSG00000002834 chr17:38918698-38918698;G/A missense_variant False LAS1L@p.S472L 1 0.111111111 ENSG00000001497 chrX:65523593-65523593;G/A missense_variant False LAS1L@p.R170H 1 0.246575342 ENSG00000001497 chrX:65531362-65531362;C/T missense_variant False LAS1L@p.M666L 1 0.361111111 ENSG00000001497 chrX:65514905-65514905;T/A missense_variant False LAS1L@p.L272M 1 0.375 ENSG00000001497 chrX:65529244-65529244;G/T missense_variant False LAS1L@p.E660K 1 0.307692308 ENSG00000001497 chrX:65514923-65514923;C/T missense_variant False LARS1@p.T208Lfs*12 1 0.154761905 ENSG00000133706 chr5:146160447-146160459;GATTAACATCAGT/- frameshift_variant False LARP7@p.T405Qfs*5 1 0.277777778 ENSG00000174720 chr4:112649598-112649598;A/- frameshift_variant False LARS1@p.S363C 1 0.205128205 ENSG00000133706 chr5:146153958-146153958;G/C missense_variant False LARS1@p.S35F 1 0.08974359 ENSG00000133706 chr5:146177568-146177568;G/A missense_variant False LARS1@p.K15N 1 0.552631579 ENSG00000133706 chr5:146177627-146177627;C/G missense_variant False LARS1@p.I625F 1 0.282178218 ENSG00000133706 chr5:146143416-146143416;T/A missense_variant False LARS1@p.G613Vfs*18 1 0.129824561 ENSG00000133706 chr5:146143451-146143451;C/- frameshift_variant False LARS1@p.E132Q 1 0.08 ENSG00000133706 chr5:146168166-146168166;C/G missense_variant False LASP1@p.R7G 1 0.558823529 ENSG00000002834 chr17:38870208-38870208;C/G missense_variant False LAT2@p.S125L 1 0.093333333 ENSG00000086730 chr7:74221678-74221678;C/T missense_variant False LATS1@p.E51K 1 0.375757576 ENSG00000131023 chr6:149701976-149701976;C/T missense_variant False LATS1@p.G217E 1 0.275229358 ENSG00000131023 chr6:149684439-149684439;C/T missense_variant False LATS1@p.H841Y 1 0.403225806 ENSG00000131023 chr6:149679947-149679947;G/A missense_variant False LATS1@p.I288M 1 0.096774194 ENSG00000131023 chr6:149684225-149684225;G/C missense_variant False LATS1@p.Q442K 1 0.22875817 ENSG00000131023 chr6:149683765-149683765;G/T missense_variant False LATS1@p.R35W 1 0.174311927 ENSG00000131023 chr6:149702024-149702024;G/A missense_variant False LATS1@p.R66T 1 0.063291139 ENSG00000131023 chr6:149701930-149701930;C/G missense_variant False LATS1@p.R694H 1 0.070422535 ENSG00000131023 chr6:149680387-149680387;C/T missense_variant False LATS1@p.S387F 1 0.125 ENSG00000131023 chr6:149683929-149683929;G/A missense_variant False LATS1@p.S476F 1 0.351190476 ENSG00000131023 chr6:149683662-149683662;G/A missense_variant False LATS1@p.S818G 1 0.304347826 ENSG00000131023 chr6:149680016-149680016;T/C missense_variant False LATS1@p.V460M 1 0.051094891 ENSG00000131023 chr6:149683711-149683711;C/T missense_variant False LATS2@p.D703N 1 0.270916335 ENSG00000150457 chr13:20983599-20983599;C/T missense_variant False LATS2@p.I993M 1 0.080808081 ENSG00000150457 chr13:20975158-20975158;G/C missense_variant False LATS2@p.K659N 1 0.233766234 ENSG00000150457 chr13:20983729-20983729;C/G missense_variant False LARS1@p.D1046H 1 0.25 ENSG00000133706 chr5:146122548-146122548;C/G missense_variant False LARP7@p.Q408E 1 0.342857143 ENSG00000174720 chr4:112649614-112649614;C/G missense_variant False LAX1@p.D240G 1 0.369863014 ENSG00000122188 chr1:203774203-203774203;A/G missense_variant False LARP1@p.L582V 1 0.197368421 ENSG00000155506 chr5:154802034-154802034;C/G missense_variant False LARP4@p.E662D 1 0.088495575 ENSG00000161813 chr12:50475675-50475675;G/C missense_variant False LARP1B@p.R466P 1 0.152866242 ENSG00000138709 chr4:128122061-128122061;G/C missense_variant False LARP1B@p.F846L 1 0.25 ENSG00000138709 chr4:128207372-128207372;T/C missense_variant False LARP1B@p.E89D 1 0.066666667 ENSG00000138709 chr4:128082214-128082214;G/C missense_variant False LARP1@p.S798L 1 0.293478261 ENSG00000155506 chr5:154803699-154803699;C/T missense_variant False LARP1@p.R565W 1 0.333333333 ENSG00000155506 chr5:154800019-154800019;C/T missense_variant False LARP1@p.L450V 1 0.268292683 ENSG00000155506 chr5:154795290-154795290;C/G missense_variant False LARP7@p.I141F 1 0.327586207 ENSG00000174720 chr4:112646824-112646824;A/T missense_variant False LARP1@p.K677Q 1 0.137254902 ENSG00000155506 chr5:154802319-154802319;A/C missense_variant False LARP1@p.G331S 1 0.135135135 ENSG00000155506 chr5:154793922-154793922;G/A missense_variant False LARGE2@p.R505C 1 0.469945355 ENSG00000165905 chr11:45927502-45927502;C/T missense_variant False LARGE2@p.A606V 1 0.129310345 ENSG00000165905 chr11:45928239-45928239;C/T missense_variant False LARGE1@p.W316C 1 0.270676692 ENSG00000133424 chr22:33384249-33384249;C/G missense_variant False LARGE1@p.R398H 1 0.15 ENSG00000133424 chr22:33337740-33337740;C/T missense_variant False LARP4@p.F151L 1 0.169491525 ENSG00000161813 chr12:50435542-50435542;C/A missense_variant False LARP4@p.L136F 1 0.194630872 ENSG00000161813 chr12:50435497-50435497;G/T missense_variant False LARP4@p.L638I 1 0.041666667 ENSG00000161813 chr12:50475601-50475601;C/A missense_variant False LARP4@p.P27A 1 0.183098592 ENSG00000161813 chr12:50427822-50427822;C/G missense_variant False LARP4@p.R450K 1 0.2 ENSG00000161813 chr12:50462596-50462596;G/A missense_variant False LARP4B@p.A126T 1 0.237623762 ENSG00000107929 chr10:863797-863797;C/T missense_variant False LARP4B@p.A25S 1 0.375 ENSG00000107929 chr10:885649-885649;C/A missense_variant False LARP4B@p.E660G 1 0.253164557 ENSG00000107929 chr10:813164-813164;T/C missense_variant False LARP4B@p.E688Q 1 0.305970149 ENSG00000107929 chr10:813081-813081;C/G missense_variant False LARP4B@p.H604Y 1 0.230769231 ENSG00000107929 chr10:814956-814956;G/A missense_variant False LARP4B@p.K201N 1 0.101694915 ENSG00000107929 chr10:842975-842975;C/A missense_variant False LARP6@p.R121S 1 0.117647059 ENSG00000166173 chr15:70836343-70836343;C/A missense_variant False LARP6@p.R323T 1 0.078431373 ENSG00000166173 chr15:70832560-70832560;C/G missense_variant False LARP7@p.D349N 1 0.387096774 ENSG00000174720 chr4:112647737-112647737;G/A missense_variant False LARP7@p.E174Q 1 0.433962264 ENSG00000174720 chr4:112646923-112646923;G/C missense_variant False LARP7@p.E267K 1 0.152173913 ENSG00000174720 chr4:112647351-112647351;G/A missense_variant False LARP7@p.E501Q 1 0.057142857 ENSG00000174720 chr4:112653161-112653161;G/C missense_variant False LATS2@p.M64I 1 0.285714286 ENSG00000150457 chr13:21045835-21045835;C/T missense_variant False LAX1@p.D251N 1 0.127659574 ENSG00000122188 chr1:203774235-203774235;G/A missense_variant False LCN6@p.V57M 1 0.432432432 ENSG00000267206 chr9:136747485-136747485;C/T missense_variant False LCK@p.D12N 1 0.149425287 ENSG00000182866 chr1:32274363-32274363;G/A missense_variant False LCLAT1@p.T292I 1 0.304964539 ENSG00000172954 chr2:30640249-30640249;C/T missense_variant False LCLAT1@p.Q330H 1 0.276595745 ENSG00000172954 chr2:30640364-30640364;G/C missense_variant False LCLAT1@p.D178N 1 0.25 ENSG00000172954 chr2:30562199-30562199;G/A missense_variant False LCLAT1@p.A219P 1 0.368421053 ENSG00000172954 chr2:30568089-30568089;G/C missense_variant False LCK@p.R184C 1 0.208333333 ENSG00000182866 chr1:32275982-32275982;C/T missense_variant False LCK@p.Q277K 1 0.195402299 ENSG00000182866 chr1:32276651-32276651;C/A missense_variant False LCE5A@p.G107_G115del 1 0.326086957 ENSG00000186207 chr1:152511833-152511859;GCTGCTGCCACAGCTCTGGGGGCTCTG/- inframe_deletion False LCE2A@p.S41C 1 0.305343511 ENSG00000187173 chr1:152699023-152699023;C/G missense_variant False LCE5A@p.C40S 1 0.105263158 ENSG00000186207 chr1:152511652-152511652;T/A missense_variant False LCE3D@p.R65C 1 0.406504065 ENSG00000163202 chr1:152579744-152579744;G/A missense_variant False LCE3A@p.P21Q 1 0.333333333 ENSG00000185962 chr1:152623042-152623042;G/T missense_variant False LCE2D@p.P78S 1 0.433962264 ENSG00000187223 chr1:152664337-152664337;C/T missense_variant False LCE2D@p.G107R 1 0.141176471 ENSG00000187223 chr1:152664424-152664424;G/A missense_variant False LCE2B@p.C92S 1 0.234177215 ENSG00000159455 chr1:152687118-152687118;G/C missense_variant False LCMT1@p.R246W 1 0.192307692 ENSG00000205629 chr16:25169157-25169157;C/T missense_variant False LCMT1@p.V77Sfs*5 1 0.213114754 ENSG00000205629 chr16:25132425-25132425;G/- frameshift_variant False LCMT2@p.E650Q 1 0.338028169 ENSG00000168806 chr15:43328542-43328542;C/G missense_variant False LCMT2@p.G314R 1 0.244897959 ENSG00000168806 chr15:43329550-43329550;C/G missense_variant False LCMT2@p.H607Y 1 0.161290323 ENSG00000168806 chr15:43328671-43328671;G/A missense_variant False LCMT2@p.L365F 1 0.369230769 ENSG00000168806 chr15:43329395-43329395;C/G missense_variant False LCMT2@p.Q73H 1 0.588235294 ENSG00000168806 chr15:43330271-43330271;C/G missense_variant False LCMT2@p.R54Q 1 0.125 ENSG00000168806 chr15:43330329-43330329;C/T missense_variant False LCMT2@p.R82C 1 0.12195122 ENSG00000168806 chr15:43330246-43330246;G/A missense_variant False LCMT2@p.R82G 1 0.611111111 ENSG00000168806 chr15:43330246-43330246;G/C missense_variant False LCMT2@p.S426L 1 0.56 ENSG00000168806 chr15:43329213-43329213;G/A missense_variant False LCMT2@p.S561F 1 0.301886792 ENSG00000168806 chr15:43328808-43328808;G/A missense_variant False LCN15@p.I9Tfs*2 1 0.411764706 ENSG00000177984 chr9:136764463-136764463;A/- frameshift_variant False LCN15@p.V168I 1 0.368421053 ENSG00000177984 chr9:136762206-136762206;C/T missense_variant False LCN1@p.D176N 1 0.410526316 ENSG00000160349 chr9:135525152-135525152;G/A missense_variant False LCN2@p.F153L 1 0.192488263 ENSG00000148346 chr9:128152009-128152009;C/G missense_variant False LCN2@p.S34N 1 0.540983607 ENSG00000148346 chr9:128149626-128149626;G/A missense_variant False LCE2B@p.C71Y 1 0.314893617 ENSG00000159455 chr1:152687055-152687055;G/A missense_variant False LCE1F@p.S85Y 1 0.264150943 ENSG00000240386 chr1:152776625-152776625;C/A missense_variant False LAX1@p.E281K 1 0.166666667 ENSG00000122188 chr1:203774325-203774325;G/A missense_variant False LBHD1@p.R274T 1 0.276315789 ENSG00000162194 chr11:62663254-62663254;C/G missense_variant False LBR@p.I180T 1 0.215686275 ENSG00000143815 chr1:225419364-225419364;A/G missense_variant False LBR@p.F571L 1 0.1875 ENSG00000143815 chr1:225403438-225403438;G/C missense_variant False LBR@p.A414T 1 0.20952381 ENSG00000143815 chr1:225410365-225410365;C/T missense_variant False LBP@p.R237W 1 0.068181818 ENSG00000129988 chr20:38364031-38364031;C/T missense_variant False LBP@p.Q457E 1 0.46 ENSG00000129988 chr20:38373981-38373981;C/G missense_variant False LBHD1@p.S196F 1 0.26 ENSG00000162194 chr11:62667552-62667552;G/A missense_variant False LBHD1@p.E159Q 1 0.043126685 ENSG00000162194 chr11:62667664-62667664;C/G missense_variant False LCE1E@p.D94N 1 0.71641791 ENSG00000186226 chr1:152787579-152787579;G/A missense_variant False LBH@p.R36C 1 0.232876712 ENSG00000213626 chr2:30234484-30234484;C/T missense_variant False LAYN@p.R196K 1 0.282051282 ENSG00000204381 chr11:111554582-111554582;G/A missense_variant False LAYN@p.G284E 1 0.216666667 ENSG00000204381 chr11:111560160-111560160;G/A missense_variant False LAYN@p.E350D 1 0.340659341 ENSG00000204381 chr11:111560359-111560359;G/C missense_variant False LAX1@p.S187L 1 0.107142857 ENSG00000122188 chr1:203774044-203774044;C/T missense_variant False LAX1@p.L21V 1 0.142857143 ENSG00000122188 chr1:203765626-203765626;C/G missense_variant False LBR@p.L435F 1 0.233333333 ENSG00000143815 chr1:225410302-225410302;G/A missense_variant False LBR@p.R377Q 1 0.34057971 ENSG00000143815 chr1:225411395-225411395;C/T missense_variant False LBR@p.S99F 1 0.479166667 ENSG00000143815 chr1:225422147-225422147;G/A missense_variant False LBX2@p.A138T 1 0.647058824 ENSG00000179528 chr2:74498112-74498112;C/T missense_variant False LBX2@p.S153L 1 0.275862069 ENSG00000179528 chr2:74498066-74498066;G/A missense_variant False LCA5@p.A16V 1 0.44198895 ENSG00000135338 chr6:79518848-79518848;G/A missense_variant False LCA5@p.E156K 1 0.525 ENSG00000135338 chr6:79513466-79513466;C/T missense_variant False LCA5@p.G2R 1 0.208333333 ENSG00000135338 chr6:79518891-79518891;C/T missense_variant False LCA5@p.P490L 1 0.377659574 ENSG00000135338 chr6:79487629-79487629;G/A missense_variant False LCA5@p.R163H 1 0.537037037 ENSG00000135338 chr6:79513444-79513444;C/T missense_variant False LCA5@p.S41F 1 0.344410876 ENSG00000135338 chr6:79518773-79518773;G/A missense_variant False LCA5L@p.K47N 1 0.191011236 ENSG00000157578 chr21:39428353-39428353;C/G missense_variant False LCA5L@p.L235S 1 0.415841584 ENSG00000157578 chr21:39423109-39423109;A/G missense_variant False LCA5L@p.S648C 1 0.555555556 ENSG00000157578 chr21:39405952-39405952;G/C missense_variant False LCAT@p.G340_G342del 1 0.162337662 ENSG00000213398 chr16:67940201-67940209;GCCCACGCC/- inframe_deletion False LCAT@p.V341Pfs*66 1 0.309677419 ENSG00000213398 chr16:67940197-67940206;GCAGGCCCAC/- frameshift_variant False LCE1C@p.P34T 1 0.109589041 ENSG00000197084 chr1:152805379-152805379;G/T missense_variant False KRTAP5-11@p.S104C 1 0.296153846 ENSG00000204571 chr11:71582527-71582527;G/C missense_variant False KRTAP4-5@p.L17M 1 0.217391304 ENSG00000198271 chr17:41149719-41149719;G/T missense_variant False LRRN3@p.E689Q 1 0.118811881 ENSG00000173114 chr7:111124837-111124837;G/C missense_variant False KNL1@p.N1633T 1 0.509433962 ENSG00000137812 chr15:40625084-40625084;A/C missense_variant False KNL1@p.S553L 1 0.117647059 ENSG00000137812 chr15:40621844-40621844;C/T missense_variant False KNL1@p.S235L 1 0.169491525 ENSG00000137812 chr15:40620890-40620890;C/T missense_variant False KNL1@p.S140C 1 0.389473684 ENSG00000137812 chr15:40618977-40618977;C/G missense_variant False KNL1@p.S1022Cfs*8 1 0.295454545 ENSG00000137812 chr15:40623247-40623248;GA/- frameshift_variant False KNL1@p.R247I 1 0.421052632 ENSG00000137812 chr15:40620926-40620926;G/T missense_variant False KNL1@p.R1804I 1 0.130434783 ENSG00000137812 chr15:40625597-40625597;G/T missense_variant False KNL1@p.M74I 1 0.45 ENSG00000137812 chr15:40610269-40610269;G/T missense_variant False KNOP1@p.E236Q 1 0.13559322 ENSG00000103550 chr16:19714330-19714330;C/G missense_variant False KNL1@p.L1885F 1 0.117117117 ENSG00000137812 chr15:40628672-40628672;G/C missense_variant False KNL1@p.H73Y 1 0.398230088 ENSG00000137812 chr15:40610264-40610264;C/T missense_variant False KNL1@p.E832Q 1 0.269230769 ENSG00000137812 chr15:40622680-40622680;G/C missense_variant False KNL1@p.E331K 1 0.275 ENSG00000137812 chr15:40621177-40621177;G/A missense_variant False KNL1@p.E2242D 1 0.258928571 ENSG00000137812 chr15:40657408-40657408;G/C missense_variant False KNL1@p.E2082Q 1 0.591836735 ENSG00000137812 chr15:40650372-40650372;G/C missense_variant False KNL1@p.T297S 1 0.133333333 ENSG00000137812 chr15:40621075-40621075;A/T missense_variant False KNOP1@p.E296K 1 0.156398104 ENSG00000103550 chr16:19714150-19714150;C/T missense_variant False KRI1@p.R656W 1 0.208053691 ENSG00000129347 chr19:10554097-10554097;G/A missense_variant False KNTC1@p.D943H 1 0.222222222 ENSG00000184445 chr12:122577777-122577777;G/C missense_variant False KNTC1@p.R742K 1 0.063829787 ENSG00000184445 chr12:122573227-122573227;G/A missense_variant False KNTC1@p.L516R 1 0.583333333 ENSG00000184445 chr12:122562642-122562642;T/G missense_variant False KNTC1@p.L1987V 1 0.137931034 ENSG00000184445 chr12:122615072-122615072;C/G missense_variant False KNTC1@p.L1283F 1 0.5 ENSG00000184445 chr12:122587827-122587827;C/T missense_variant False KNTC1@p.F1703L 1 0.1 ENSG00000184445 chr12:122604571-122604571;C/G missense_variant False KNTC1@p.E754K 1 0.043478261 ENSG00000184445 chr12:122573262-122573262;G/A missense_variant False KNTC1@p.A1587Pfs*3 1 0.191489362 ENSG00000184445 chr12:122602674-122602675;GC/- frameshift_variant False KNOP1@p.E83Q 1 0.315789474 ENSG00000103550 chr16:19714789-19714789;C/G missense_variant False KNSTRN@p.T16P 1 0.636363636 ENSG00000128944 chr15:40382881-40382881;A/C missense_variant False KNSTRN@p.T108Sfs*30 1 0.178571429 ENSG00000128944 chr15:40386378-40386390;CACTTCTAAGAGT/- frameshift_variant False KNSTRN@p.R66Q 1 0.058823529 ENSG00000128944 chr15:40383032-40383032;G/A missense_variant False KNSTRN@p.E233K 1 0.25 ENSG00000128944 chr15:40391504-40391504;G/A missense_variant False KNOP1@p.R91T 1 0.153225806 ENSG00000103550 chr16:19714764-19714764;C/G missense_variant False KNOP1@p.G320S 1 0.352941176 ENSG00000103550 chr16:19711401-19711401;C/T missense_variant False KNL1@p.E2030K 1 0.448979592 ENSG00000137812 chr15:40646990-40646990;G/A missense_variant False KNL1@p.E2030D 1 0.166666667 ENSG00000137812 chr15:40646992-40646992;G/C missense_variant False KNL1@p.E1125K 1 0.377777778 ENSG00000137812 chr15:40623559-40623559;G/A missense_variant False KMT5B@p.S30L 1 0.241025641 ENSG00000110066 chr11:68189988-68189988;G/A missense_variant False KNDC1@p.D871N 1 0.363636364 ENSG00000171798 chr10:133199119-133199119;G/A missense_variant False KMT5C@p.G271A 1 0.416666667 ENSG00000133247 chr19:55346604-55346604;G/C missense_variant False KMT5B@p.S831C 1 0.206896552 ENSG00000110066 chr11:68157854-68157854;G/C missense_variant False KMT5B@p.S774C 1 0.242857143 ENSG00000110066 chr11:68158025-68158025;G/C missense_variant False KMT5B@p.S552C 1 0.144927536 ENSG00000110066 chr11:68158691-68158691;G/C missense_variant False KMT5B@p.S397Y 1 0.298701299 ENSG00000110066 chr11:68159156-68159156;G/T missense_variant False KMT5B@p.R515G 1 0.057142857 ENSG00000110066 chr11:68158803-68158803;T/C missense_variant False KNL1@p.E1121G 1 0.8 ENSG00000137812 chr15:40623548-40623548;A/G missense_variant False KMT5B@p.R16T 1 0.170050761 ENSG00000110066 chr11:68190030-68190030;C/G missense_variant False KMT5B@p.R15S 1 0.357731959 ENSG00000110066 chr11:68190032-68190032;C/G missense_variant False KMT5B@p.L858F 1 0.25 ENSG00000110066 chr11:68157772-68157772;C/G missense_variant False KMT5B@p.L561F 1 0.256 ENSG00000110066 chr11:68158663-68158663;C/G missense_variant False KMT5B@p.K446M 1 0.278846154 ENSG00000110066 chr11:68159009-68159009;T/A missense_variant False KMT5B@p.I869T 1 0.545454545 ENSG00000110066 chr11:68157740-68157740;A/G missense_variant False KNDC1@p.E104K 1 0.305785124 ENSG00000171798 chr10:133168262-133168262;G/A missense_variant False KNDC1@p.E1203K 1 0.285714286 ENSG00000171798 chr10:133207164-133207164;G/A missense_variant False KNDC1@p.E176K 1 0.133802817 ENSG00000171798 chr10:133183890-133183890;G/A missense_variant False KNDC1@p.E492Q 1 0.545454545 ENSG00000171798 chr10:133189630-133189630;G/C missense_variant False KNDC1@p.F119S 1 0.131313131 ENSG00000171798 chr10:133168308-133168308;T/C missense_variant False KNDC1@p.G116R 1 0.371257485 ENSG00000171798 chr10:133168298-133168298;G/C missense_variant False KNDC1@p.R599S 1 0.170731707 ENSG00000171798 chr10:133197120-133197120;A/T missense_variant False KNDC1@p.S1351C 1 0.1625 ENSG00000171798 chr10:133211565-133211565;C/G missense_variant False KNDC1@p.S1729C 1 0.789473684 ENSG00000171798 chr10:133224826-133224826;C/G missense_variant False KNDC1@p.V1333M 1 0.153846154 ENSG00000171798 chr10:133211510-133211510;G/A missense_variant False KNG1@p.D236N 1 0.378378378 ENSG00000113889 chr3:186731578-186731578;G/A missense_variant False KNG1@p.E529K 1 0.423728814 ENSG00000113889 chr3:186741981-186741981;G/A missense_variant False KNG1@p.Q139K 1 0.577777778 ENSG00000113889 chr3:186725111-186725111;C/A missense_variant False KNG1@p.Q139R 1 0.590909091 ENSG00000113889 chr3:186725112-186725112;A/G missense_variant False KNG1@p.S561F 1 0.06557377 ENSG00000113889 chr3:186742078-186742078;C/T missense_variant False KNL1@p.D1454H 1 0.053254438 ENSG00000137812 chr15:40624546-40624546;G/C missense_variant False KNL1@p.D1821H 1 0.278481013 ENSG00000137812 chr15:40628076-40628076;G/C missense_variant False KNTC1@p.S1278A 1 0.090909091 ENSG00000184445 chr12:122587812-122587812;T/G missense_variant False KNTC1@p.S1624W 1 0.352272727 ENSG00000184445 chr12:122602874-122602874;C/G missense_variant False KNTC1@p.S1871L 1 0.211267606 ENSG00000184445 chr12:122610890-122610890;C/T missense_variant False KRAS@p.G13D 1 0.763052209 ENSG00000133703 chr12:25245347-25245347;C/T missense_variant True KRBA2@p.G205R 1 0.330769231 ENSG00000184619 chr17:8370000-8370000;C/T missense_variant False KRBA2@p.E133Q 1 0.543859649 ENSG00000184619 chr17:8370216-8370216;C/G missense_variant False KRBA2@p.D163N 1 0.530973451 ENSG00000184619 chr17:8370126-8370126;C/T missense_variant False KRBA1@p.S410F 1 0.151515152 ENSG00000133619 chr7:149725417-149725417;C/T missense_variant False KRBA1@p.A897S 1 0.1875 ENSG00000133619 chr7:149733643-149733643;G/T missense_variant False KRAS@p.Q61H 1 0.491803279 ENSG00000133703 chr12:25227341-25227341;T/A missense_variant True KRAS@p.G12R 1 0.714285714 ENSG00000133703 chr12:25245351-25245351;C/G missense_variant True KPRP@p.E517K 1 0.31884058 ENSG00000203786 chr1:152761137-152761137;G/A missense_variant False KRAS@p.A59G 1 0.490909091 ENSG00000133703 chr12:25227348-25227348;G/C missense_variant True KPRP@p.S105P 1 0.298795181 ENSG00000203786 chr1:152759901-152759901;T/C missense_variant False KPRP@p.S102Y 1 0.461038961 ENSG00000203786 chr1:152759893-152759893;C/A missense_variant False KPRP@p.R386W 1 0.052631579 ENSG00000203786 chr1:152760744-152760744;C/T missense_variant False KPRP@p.Q14E 1 0.126760563 ENSG00000203786 chr1:152759628-152759628;C/G missense_variant False KPRP@p.F579V 1 0.568965517 ENSG00000203786 chr1:152761323-152761323;T/G missense_variant False KRBA2@p.H178Y 1 0.390977444 ENSG00000184619 chr17:8370081-8370081;G/A missense_variant False KRBA2@p.M371I 1 0.852941176 ENSG00000184619 chr17:8369500-8369500;C/T missense_variant False KRBA2@p.Q392H 1 0.8 ENSG00000184619 chr17:8369437-8369437;C/G missense_variant False KRBA2@p.V95I 1 0.296296296 ENSG00000184619 chr17:8370330-8370330;C/T missense_variant False KRBOX4@p.E64K 1 0.513513514 ENSG00000147121 chrX:46463245-46463245;G/A missense_variant False KRCC1@p.E49K 1 0.35625 ENSG00000172086 chr2:88028419-88028419;C/T missense_variant False KRCC1@p.G242R 1 0.144578313 ENSG00000172086 chr2:88027840-88027840;C/G missense_variant False KRCC1@p.R168T 1 0.247863248 ENSG00000172086 chr2:88028061-88028061;C/G missense_variant False KREMEN1@p.A213T 1 0.147368421 ENSG00000183762 chr22:29137353-29137353;G/A missense_variant False KREMEN1@p.G284R 1 0.49382716 ENSG00000183762 chr22:29137566-29137566;G/A missense_variant False KREMEN1@p.P288Q 1 0.162790698 ENSG00000183762 chr22:29137579-29137579;C/A missense_variant False KREMEN2@p.R157H 1 0.320754717 ENSG00000131650 chr16:2966433-2966433;G/A missense_variant False KRI1@p.D96N 1 0.066666667 ENSG00000129347 chr19:10562826-10562826;C/T missense_variant False KRI1@p.E380K 1 0.468085106 ENSG00000129347 chr19:10559415-10559415;C/T missense_variant False KRI1@p.E489Q 1 0.275862069 ENSG00000129347 chr19:10557790-10557790;C/G missense_variant False KRI1@p.I317M 1 0.264705882 ENSG00000129347 chr19:10559685-10559685;G/C missense_variant False KRI1@p.R144K 1 0.551724138 ENSG00000129347 chr19:10561798-10561798;C/T missense_variant False KPRP@p.E540D 1 0.278481013 ENSG00000203786 chr1:152761208-152761208;G/C missense_variant False KPRP@p.E471K 1 0.308270677 ENSG00000203786 chr1:152760999-152760999;G/A missense_variant False KNTC1@p.T1099S 1 0.47008547 ENSG00000184445 chr12:122584309-122584309;A/T missense_variant False KPNA1@p.Q71H 1 0.290909091 ENSG00000114030 chr3:122467346-122467346;C/G missense_variant False KPNA2@p.R68H 1 0.142857143 ENSG00000182481 chr17:68037485-68037485;G/A missense_variant False KPNA2@p.Q369H 1 0.478723404 ENSG00000182481 chr17:68044014-68044014;G/C missense_variant False KPNA2@p.P135H 1 0.147186147 ENSG00000182481 chr17:68042186-68042186;C/A missense_variant False KPNA2@p.E33Q 1 0.317757009 ENSG00000182481 chr17:68037379-68037379;G/C missense_variant False KPNA1@p.S314C 1 0.136842105 ENSG00000114030 chr3:122442093-122442093;G/C missense_variant False KPNA1@p.S282L 1 0.34 ENSG00000114030 chr3:122449646-122449646;G/A missense_variant False KPNA1@p.Q38H 1 0.122807018 ENSG00000114030 chr3:122496452-122496452;C/G missense_variant False KPRP@p.E42K 1 0.130434783 ENSG00000203786 chr1:152759712-152759712;G/A missense_variant False KPNA1@p.G5R 1 0.172661871 ENSG00000114030 chr3:122496553-122496553;C/T missense_variant False KPNA1@p.E69K 1 0.068965517 ENSG00000114030 chr3:122467354-122467354;C/T missense_variant False KPNA1@p.E183Q 1 0.153846154 ENSG00000114030 chr3:122453887-122453887;C/G missense_variant False KPNA1@p.D378N 1 0.15 ENSG00000114030 chr3:122433779-122433779;C/T missense_variant False KPNA1@p.D287H 1 0.146153846 ENSG00000114030 chr3:122449632-122449632;C/G missense_variant False KNTC1@p.V960L 1 0.2 ENSG00000184445 chr12:122579941-122579941;G/C missense_variant False KPNA2@p.T61A 1 0.530612245 ENSG00000182481 chr17:68037463-68037463;A/G missense_variant False KPNA4@p.E5D 1 0.666666667 ENSG00000186432 chr3:160565268-160565268;C/A missense_variant False KPNA4@p.I501M 1 0.430232558 ENSG00000186432 chr3:160502167-160502167;A/C missense_variant False KPNA4@p.Q151E 1 0.155555556 ENSG00000186432 chr3:160530873-160530873;G/C missense_variant False KPNA5@p.L500V 1 0.464285714 ENSG00000196911 chr6:116732201-116732201;C/G missense_variant False KPNA5@p.S315L 1 0.27027027 ENSG00000196911 chr6:116724320-116724320;C/T missense_variant False KPNA6@p.M85I 1 0.125 ENSG00000025800 chr1:32157369-32157369;G/A missense_variant False KPNA6@p.R83I 1 0.236842105 ENSG00000025800 chr1:32157362-32157362;G/T missense_variant False KPNB1@p.A176T 1 0.394736842 ENSG00000108424 chr17:47658550-47658550;G/A missense_variant False KPNB1@p.D210H 1 0.55 ENSG00000108424 chr17:47658652-47658652;G/C missense_variant False KPNB1@p.D419H 1 0.117647059 ENSG00000108424 chr17:47669708-47669708;G/C missense_variant False KPNB1@p.E19Q 1 0.333333333 ENSG00000108424 chr17:47650400-47650400;G/C missense_variant False KPNB1@p.I603M 1 0.055194805 ENSG00000108424 chr17:47674679-47674679;C/G missense_variant False KPNB1@p.L65F 1 0.169014085 ENSG00000108424 chr17:47652789-47652789;G/C missense_variant False KPNB1@p.S149L 1 0.325581395 ENSG00000108424 chr17:47657023-47657023;C/T missense_variant False KPNB1@p.Y529C 1 0.36440678 ENSG00000108424 chr17:47673056-47673056;A/G missense_variant False KPRP@p.C201W 1 0.102803738 ENSG00000203786 chr1:152760191-152760191;C/G missense_variant False KMT5B@p.G313E 1 0.444444444 ENSG00000110066 chr11:68171054-68171054;C/T missense_variant False KMT5B@p.F178L 1 0.25 ENSG00000110066 chr11:68175027-68175027;G/C missense_variant False KMT5B@p.D687Y 1 0.333333333 ENSG00000110066 chr11:68158287-68158287;C/A missense_variant False KMT2D@p.C3390F 1 0.340425532 ENSG00000167548 chr12:49037187-49037187;C/A missense_variant True KMT2D@p.D5462H 1 0.166666667 ENSG00000167548 chr12:49022308-49022308;C/G missense_variant True KMT2D@p.D4855H 1 0.444444444 ENSG00000167548 chr12:49027883-49027883;C/G missense_variant True KMT2D@p.D3006N 1 0.459016393 ENSG00000167548 chr12:49038340-49038340;C/T missense_variant True KMT2D@p.C5230F 1 0.423529412 ENSG00000167548 chr12:49026277-49026277;C/A missense_variant True KMT2D@p.C5104Y 1 0.479452055 ENSG00000167548 chr12:49026655-49026655;C/T missense_variant True KMT2D@p.C4583* 1 0.243243243 ENSG00000167548 chr12:49030685-49030692;GACTGGGC/- frameshift_variant True KMT2D@p.A1327Pfs*3 1 0.2 ENSG00000167548 chr12:49049146-49049146;C/- frameshift_variant True KMT2C@p.R2454T 1 0.4375 ENSG00000055609 chr7:152179915-152179915;C/G missense_variant True KMT2C@p.Y1348H 1 0.466666667 ENSG00000055609 chr7:152202984-152202984;A/G missense_variant True KMT2C@p.T215Lfs*45 1 0.294117647 ENSG00000055609 chr7:152311891-152311894;CTGT/- frameshift_variant True KMT2C@p.S818L 1 0.076142132 ENSG00000055609 chr7:152247981-152247981;G/A missense_variant True KMT2C@p.S3213L 1 0.092436975 ENSG00000055609 chr7:152167258-152167258;G/A missense_variant True KMT2C@p.S2930L 1 0.178571429 ENSG00000055609 chr7:152176664-152176664;G/A missense_variant True KMT2C@p.S2408Hfs*44 1 0.29281768 ENSG00000055609 chr7:152180055-152180055;C/- frameshift_variant True KMT2D@p.E1067K 1 0.421052632 ENSG00000167548 chr12:49050389-49050389;C/T missense_variant True KMT2D@p.E122K 1 0.285714286 ENSG00000167548 chr12:49054564-49054564;C/T missense_variant True KMT2D@p.E1623K 1 0.300970874 ENSG00000167548 chr12:49044840-49044840;C/T missense_variant True KMT2D@p.E2259K 1 0.360655738 ENSG00000167548 chr12:49040995-49040995;C/T missense_variant True KMT2D@p.E292K 1 0.141176471 ENSG00000167548 chr12:49053287-49053287;C/T missense_variant True KMT2D@p.E3124K 1 0.333333333 ENSG00000167548 chr12:49037986-49037986;C/T missense_variant True KMT2D@p.E3181D 1 0.523809524 ENSG00000167548 chr12:49037813-49037813;C/G missense_variant True KMT2D@p.E4039K 1 0.368421053 ENSG00000167548 chr12:49032590-49032590;C/T missense_variant True KMT2D@p.E4549K 1 0.212121212 ENSG00000167548 chr12:49030919-49030919;C/T missense_variant True KMT2D@p.E4646K 1 0.461538462 ENSG00000167548 chr12:49030343-49030343;C/T missense_variant True KMT2D@p.E4887Q 1 0.320512821 ENSG00000167548 chr12:49027307-49027307;C/G missense_variant True KMT2D@p.E4912K 1 0.375 ENSG00000167548 chr12:49027232-49027232;C/T missense_variant True KMT2D@p.E5068K 1 0.343137255 ENSG00000167548 chr12:49026764-49026764;C/T missense_variant True KMT2D@p.E524Kfs*406 1 0.217391304 ENSG00000167548 chr12:49052113-49052113;C/- frameshift_variant True KMT2D@p.E5517Q 1 0.365853659 ENSG00000167548 chr12:49021845-49021845;C/G missense_variant True KMT2D@p.E694K 1 0.160714286 ENSG00000167548 chr12:49051603-49051603;C/T missense_variant True KMT2D@p.E766K 1 0.1 ENSG00000167548 chr12:49051387-49051387;C/T missense_variant True KMT2C@p.S1449L 1 0.409090909 ENSG00000055609 chr7:152195939-152195939;G/A missense_variant True KMT2C@p.R1758C 1 0.326315789 ENSG00000055609 chr7:152182588-152182588;G/A missense_variant True KMT2D@p.F301Sfs*3 1 0.388888889 ENSG00000167548 chr12:49053259-49053259;A/- frameshift_variant True KMT2C@p.E4232D 1 0.085106383 ENSG00000055609 chr7:152150978-152150978;C/G missense_variant True KMT2C@p.G4865Tfs*20 1 0.272727273 ENSG00000055609 chr7:152138846-152138847;CT/- frameshift_variant True KMT2C@p.G4012A 1 0.231132075 ENSG00000055609 chr7:152154371-152154371;C/G missense_variant True KMT2C@p.G368R 1 0.038369305 ENSG00000055609 chr7:152265120-152265120;C/G missense_variant True KMT2C@p.G2507E 1 0.347826087 ENSG00000055609 chr7:152177933-152177933;C/T missense_variant True KMT2C@p.E545K 1 0.144927536 ENSG00000055609 chr7:152250955-152250955;C/T missense_variant True KMT2C@p.E4408Q 1 0.704081633 ENSG00000055609 chr7:152148705-152148705;C/G missense_variant True KMT2C@p.E4114K 1 0.368421053 ENSG00000055609 chr7:152152891-152152891;C/T missense_variant True KMT2C@p.R1095T 1 0.494736842 ENSG00000055609 chr7:152224054-152224054;C/G missense_variant True KMT2C@p.E387V 1 0.074303406 ENSG00000055609 chr7:152265062-152265062;T/A missense_variant True KMT2C@p.E3182Q 1 0.09375 ENSG00000055609 chr7:152167352-152167352;C/G missense_variant True KMT2C@p.E2840K 1 0.21875 ENSG00000055609 chr7:152176935-152176935;C/T missense_variant True KMT2C@p.E2231Q 1 0.19047619 ENSG00000055609 chr7:152181169-152181169;C/G missense_variant True KMT2C@p.E141Gfs*29 1 0.12244898 ENSG00000055609 chr7:152315306-152315307;-/C frameshift_variant True KMT2C@p.E114K 1 0.185185185 ENSG00000055609 chr7:152330650-152330650;C/T missense_variant True KMT2C@p.G972E 1 0.051724138 ENSG00000055609 chr7:152229984-152229984;C/T missense_variant True KMT2C@p.H4556Tfs*70 1 0.517241379 ENSG00000055609 chr7:152148261-152148261;G/- frameshift_variant True KMT2C@p.H484N 1 0.445945946 ENSG00000055609 chr7:152252565-152252565;G/T missense_variant True KMT2C@p.H502N 1 0.666666667 ENSG00000055609 chr7:152252056-152252056;G/T missense_variant True KMT2C@p.H609R 1 0.372340426 ENSG00000055609 chr7:152248608-152248608;T/C missense_variant True KMT2C@p.K1205Nfs*2 1 0.210526316 ENSG00000055609 chr7:152220623-152220623;C/- frameshift_variant True KMT2C@p.K2809Nfs*14 1 0.256756757 ENSG00000055609 chr7:152177026-152177026;T/- frameshift_variant True KMT2C@p.L4575Pfs*5 1 0.321428571 ENSG00000055609 chr7:152148199-152148203;GAAGA/- frameshift_variant True KMT2C@p.L694F 1 0.090909091 ENSG00000055609 chr7:152248354-152248354;G/A missense_variant True KMT2C@p.N2949Ifs*10 1 0.348837209 ENSG00000055609 chr7:152176609-152176609;G/- frameshift_variant True KMT2C@p.P1513Sfs*9 1 0.55 ENSG00000055609 chr7:152194232-152194233;-/A frameshift_variant True KMT2C@p.P2173Hfs*22 1 0.383561644 ENSG00000055609 chr7:152181342-152181342;G/- frameshift_variant True KMT2C@p.P3085L 1 0.225806452 ENSG00000055609 chr7:152176199-152176199;G/A missense_variant True KMT2C@p.P3548Qfs*2 1 0.588235294 ENSG00000055609 chr7:152162934-152162934;G/- frameshift_variant True KMT2C@p.P3898A 1 0.164835165 ENSG00000055609 chr7:152156325-152156325;G/C missense_variant True KMT2C@p.Q2813H 1 0.194444444 ENSG00000055609 chr7:152177014-152177014;C/G missense_variant True KMT2C@p.Q356E 1 0.048192771 ENSG00000055609 chr7:152265156-152265156;G/C missense_variant True KMT2D@p.E829Q 1 0.1875 ENSG00000167548 chr12:49051198-49051198;C/G missense_variant True KMT2D@p.F85S 1 0.2 ENSG00000167548 chr12:49054674-49054674;A/G missense_variant True KMT5A@p.E73K 1 0.20661157 ENSG00000183955 chr12:123390714-123390714;G/A missense_variant False KMT2D@p.S4128L 1 0.2 ENSG00000167548 chr12:49032322-49032322;G/A missense_variant True KMT2D@p.V4817M 1 0.23255814 ENSG00000167548 chr12:49028075-49028075;C/T missense_variant True KMT2D@p.V2257* 1 0.346153846 ENSG00000167548 chr12:49040998-49041002;GCACA/- frameshift_variant True KMT2D@p.T5487K 1 0.108108108 ENSG00000167548 chr12:49022104-49022104;G/T missense_variant True KMT2D@p.T5464P 1 0.268292683 ENSG00000167548 chr12:49022302-49022302;T/G missense_variant True KMT2D@p.S570C 1 0.065326633 ENSG00000167548 chr12:49051974-49051974;G/C missense_variant True KMT2D@p.S4915Lfs*11 1 0.625 ENSG00000167548 chr12:49027207-49027223;GGGGAAGGGGGCGGGGA/- frameshift_variant True KMT2D@p.S344C 1 0.06010929 ENSG00000167548 chr12:49052996-49052996;G/C missense_variant True KMT2D@p.R5030C 1 0.28 ENSG00000167548 chr12:49026878-49026878;G/A missense_variant True KMT2D@p.S2312L 1 0.266666667 ENSG00000167548 chr12:49040835-49040835;G/A missense_variant True KMT2D@p.S2311F 1 0.41025641 ENSG00000167548 chr12:49040838-49040838;G/A missense_variant True KMT2D@p.S1937Pfs*110 1 0.407407407 ENSG00000167548 chr12:49042620-49042620;G/- frameshift_variant True KMT2D@p.S1065L 1 0.142857143 ENSG00000167548 chr12:49050394-49050394;G/A missense_variant True KMT2D@p.R845Pfs*3 1 0.226415094 ENSG00000167548 chr12:49051149-49051150;-/G frameshift_variant True KMT2D@p.R5179H 1 0.408450704 ENSG00000167548 chr12:49026430-49026430;C/T missense_variant True KMT2D@p.Y1407Lfs*25 1 0.263157895 ENSG00000167548 chr12:49047983-49047984;-/G frameshift_variant True KMT2D@p.Y5210S 1 0.333333333 ENSG00000167548 chr12:49026337-49026337;T/G missense_variant True KMT2E@p.E18K 1 0.159090909 ENSG00000005483 chr7:105041004-105041004;G/A missense_variant False KMT2E@p.E703K 1 0.209876543 ENSG00000005483 chr7:105102105-105102105;G/A missense_variant False KMT2E@p.F384L 1 0.163461538 ENSG00000005483 chr7:105078867-105078867;C/G missense_variant False KMT2E@p.H1732Y 1 0.301369863 ENSG00000005483 chr7:105112950-105112950;C/T missense_variant False KMT2E@p.H1814Y 1 0.25 ENSG00000005483 chr7:105113196-105113196;C/T missense_variant False KMT2E@p.K226T 1 0.612903226 ENSG00000005483 chr7:105074763-105074763;A/C missense_variant False KMT2E@p.P1014R 1 0.109375 ENSG00000005483 chr7:105107498-105107498;C/G missense_variant False KMT2E@p.Q1367E 1 0.178571429 ENSG00000005483 chr7:105111855-105111855;C/G missense_variant False KMT2E@p.Q1558E 1 0.09375 ENSG00000005483 chr7:105112428-105112428;C/G missense_variant False KMT2E@p.S1425F 1 0.205882353 ENSG00000005483 chr7:105112030-105112030;C/T missense_variant False KMT2E@p.S1563C 1 0.125 ENSG00000005483 chr7:105112444-105112444;C/G missense_variant False KMT2E@p.S1651F 1 0.2 ENSG00000005483 chr7:105112708-105112708;C/T missense_variant False KMT2E@p.S410F 1 0.280898876 ENSG00000005483 chr7:105078944-105078944;C/T missense_variant False KMT2E@p.T1088I 1 0.104166667 ENSG00000005483 chr7:105107720-105107720;C/T missense_variant False KMT2E@p.T1514P 1 0.318681319 ENSG00000005483 chr7:105112296-105112296;A/C missense_variant False KMT2D@p.R5179C 1 0.565217391 ENSG00000167548 chr12:49026431-49026431;G/A missense_variant True KMT2D@p.R4455H 1 0.254237288 ENSG00000167548 chr12:49031341-49031341;C/T missense_variant True KMT2D@p.G104Rfs*4 1 0.459459459 ENSG00000167548 chr12:49054619-49054620;-/G frameshift_variant True KMT2D@p.G4779V 1 0.251655629 ENSG00000167548 chr12:49028874-49028874;C/A missense_variant True KMT2D@p.K1712Rfs*10 1 0.5 ENSG00000167548 chr12:49044253-49044253;T/- frameshift_variant True KMT2D@p.I4440Nfs*47 1 0.404255319 ENSG00000167548 chr12:49031386-49031387;-/T frameshift_variant True KMT2D@p.I2760Sfs*27 1 0.360824742 ENSG00000167548 chr12:49039311-49039311;G/- frameshift_variant True KMT2D@p.I1208M 1 0.38028169 ENSG00000167548 chr12:49049964-49049964;G/C missense_variant True KMT2D@p.H5136Rfs*12 1 0.36440678 ENSG00000167548 chr12:49026559-49026560;-/GC frameshift_variant True KMT2D@p.H5114R 1 0.486666667 ENSG00000167548 chr12:49026625-49026625;T/C missense_variant True KMT2D@p.G4603Afs*5 1 0.4 ENSG00000167548 chr12:49030632-49030633;-/CAGTGGG frameshift_variant True KMT2D@p.Q773Sfs*157 1 0.188888889 ENSG00000167548 chr12:49051366-49051366;G/- frameshift_variant True KMT2D@p.G3633V 1 0.551724138 ENSG00000167548 chr12:49033807-49033807;C/A missense_variant True KMT2D@p.G3633C 1 0.551724138 ENSG00000167548 chr12:49033808-49033808;C/A missense_variant True KMT2D@p.G3553* 1 0.404494382 ENSG00000167548 chr12:49034146-49034150;CGGCC/- frameshift_variant True KMT2D@p.G3205V 1 0.192307692 ENSG00000167548 chr12:49037742-49037742;C/A missense_variant True KMT2D@p.G2606Afs*80 1 0.369565217 ENSG00000167548 chr12:49039940-49039955;TAGTGGGGACAGCCCA/- frameshift_variant True KMT2D@p.G1713Afs*21 1 0.191489362 ENSG00000167548 chr12:49044249-49044250;CC/- frameshift_variant True KMT2D@p.K4470N 1 0.390946502 ENSG00000167548 chr12:49031295-49031295;C/G missense_variant True KMT2D@p.L2255Cfs*3 1 0.358490566 ENSG00000167548 chr12:49041002-49041006;AGCCA/- frameshift_variant True KMT2D@p.L3619F 1 0.470588235 ENSG00000167548 chr12:49033850-49033850;G/A missense_variant True KMT2D@p.L5183Pfs*16 1 0.195652174 ENSG00000167548 chr12:49026420-49026421;-/C frameshift_variant True KMT2D@p.M3662Ifs*11 1 0.191489362 ENSG00000167548 chr12:49033715-49033719;GTGCC/- frameshift_variant True KMT2D@p.M5332V 1 0.457142857 ENSG00000167548 chr12:49024636-49024636;T/C missense_variant True KMT2D@p.N3034Mfs*37 1 0.172413793 ENSG00000167548 chr12:49038257-49038257;G/- frameshift_variant True KMT2D@p.N5474* 1 0.305084746 ENSG00000167548 chr12:49022144-49022145;-/A frameshift_variant True KMT2D@p.P2619Mfs*61 1 0.660377358 ENSG00000167548 chr12:49039883-49039916;GGACAGGTAGGGGAGGGATCCGTCGGGTGCAGGT/- frameshift_variant True KMT2D@p.P4337Lfs*47 1 0.428571429 ENSG00000167548 chr12:49031695-49031695;G/- frameshift_variant True KMT2D@p.P4423Hfs*9 1 0.280898876 ENSG00000167548 chr12:49031437-49031437;G/- frameshift_variant True KMT2D@p.P553A 1 0.130952381 ENSG00000167548 chr12:49052026-49052026;G/C missense_variant True KMT2D@p.P611Sfs*3 1 0.106666667 ENSG00000167548 chr12:49051853-49051854;-/G frameshift_variant True KMT2D@p.P799Lfs*131 1 0.37254902 ENSG00000167548 chr12:49051287-49051287;G/- frameshift_variant True KMT2D@p.P949Lfs*5 1 0.470588235 ENSG00000167548 chr12:49050730-49050742;GGAGACAGGGCCG/- frameshift_variant True KMT2D@p.Q2694H 1 0.217391304 ENSG00000167548 chr12:49039582-49039582;C/G missense_variant True KMT2D@p.Q5195H 1 0.423076923 ENSG00000167548 chr12:49026381-49026381;C/G missense_variant True KRI1@p.R592Q 1 0.37704918 ENSG00000129347 chr19:10555093-10555093;C/T missense_variant False KRI1@p.S580L 1 0.126984127 ENSG00000129347 chr19:10555129-10555129;G/A missense_variant False KRTAP4-4@p.V9M 1 0.561403509 ENSG00000171396 chr17:41160667-41160667;C/T missense_variant False KRT7@p.S12L 1 0.178571429 ENSG00000135480 chr12:52233331-52233331;C/T missense_variant False KRT80@p.S29L 1 0.454545455 ENSG00000167767 chr12:52191817-52191817;G/A missense_variant False KRT80@p.R168Q 1 0.444444444 ENSG00000167767 chr12:52185385-52185385;C/T missense_variant False KRT80@p.Q367R 1 0.174311927 ENSG00000167767 chr12:52172276-52172276;T/C missense_variant False KRT80@p.N81T 1 0.186915888 ENSG00000167767 chr12:52191661-52191661;T/G missense_variant False KRT80@p.E441D 1 0.43 ENSG00000167767 chr12:52171434-52171434;C/A missense_variant False KRT7@p.S83C 1 0.193181818 ENSG00000135480 chr12:52233544-52233544;C/G missense_variant False KRT79@p.S3P 1 0.205128205 ENSG00000185640 chr12:52834254-52834254;A/G missense_variant False KRT82@p.E366K 1 0.227272727 ENSG00000161850 chr12:52396205-52396205;C/T missense_variant False KRT79@p.S302F 1 0.632653061 ENSG00000185640 chr12:52824313-52824313;G/A missense_variant False KRT79@p.Q405H 1 0.097826087 ENSG00000185640 chr12:52823168-52823168;C/G missense_variant False KRT79@p.K511N 1 0.148148148 ENSG00000185640 chr12:52821947-52821947;C/A missense_variant False KRT79@p.G66R 1 0.455882353 ENSG00000185640 chr12:52834065-52834065;C/T missense_variant False KRT79@p.A326T 1 0.344827586 ENSG00000185640 chr12:52824242-52824242;C/T missense_variant False KRT78@p.S330C 1 0.111111111 ENSG00000170423 chr12:52844151-52844151;G/C missense_variant False KRT81@p.E354Q 1 0.125 ENSG00000205426 chr12:52287289-52287289;C/G missense_variant False KRT82@p.E485K 1 0.292035398 ENSG00000161850 chr12:52395064-52395064;C/T missense_variant False KRIT1@p.A169T 1 0.163934426 ENSG00000001631 chr7:92235627-92235627;C/T missense_variant False KRT84@p.E417D 1 0.1 ENSG00000161849 chr12:52380536-52380536;C/G missense_variant False KRT8@p.I196M 1 0.240740741 ENSG00000170421 chr12:52901165-52901165;G/C missense_variant False KRT86@p.E413K 1 0.115942029 ENSG00000170442 chr12:52306270-52306270;G/A missense_variant False KRT85@p.R40Q 1 0.117647059 ENSG00000135443 chr12:52367287-52367287;C/T missense_variant False KRT85@p.E202K 1 0.386430678 ENSG00000135443 chr12:52364987-52364987;C/T missense_variant False KRT85@p.D380N 1 0.228813559 ENSG00000135443 chr12:52362411-52362411;C/T missense_variant False KRT84@p.S62T 1 0.244444444 ENSG00000161849 chr12:52385402-52385402;A/T missense_variant False KRT84@p.E264D 1 0.224719101 ENSG00000161849 chr12:52383029-52383029;C/G missense_variant False KRT82@p.Q158H 1 0.224137931 ENSG00000161850 chr12:52403847-52403847;C/G missense_variant False KRT84@p.D164Y 1 0.519230769 ENSG00000161849 chr12:52385096-52385096;C/A missense_variant False KRT83@p.T94M 1 0.057416268 ENSG00000170523 chr12:52321055-52321055;G/A missense_variant False KRT83@p.R26W 1 0.318471338 ENSG00000170523 chr12:52321260-52321260;G/A missense_variant False KRT83@p.E150Q 1 0.638888889 ENSG00000170523 chr12:52319301-52319301;C/G missense_variant False KRT83@p.D386H 1 0.438596491 ENSG00000170523 chr12:52315999-52315999;C/G missense_variant False KRT83@p.A409S 1 0.469387755 ENSG00000170523 chr12:52315930-52315930;C/A missense_variant False KRT78@p.S314F 1 0.3671875 ENSG00000170423 chr12:52844199-52844199;G/A missense_variant False KRT78@p.S22L 1 0.368421053 ENSG00000170423 chr12:52848866-52848866;G/A missense_variant False KRT78@p.R180L 1 0.252336449 ENSG00000170423 chr12:52847967-52847967;C/A missense_variant False KRT71@p.R55Q 1 0.296551724 ENSG00000139648 chr12:52552914-52552914;C/T missense_variant False KRT74@p.P124S 1 0.292929293 ENSG00000170484 chr12:52573408-52573408;G/A missense_variant False KRT73@p.T538I 1 0.213836478 ENSG00000186049 chr12:52608206-52608206;G/A missense_variant False KRT73@p.G401D 1 0.157303371 ENSG00000186049 chr12:52610744-52610744;C/T missense_variant False KRT73@p.E154K 1 0.371794872 ENSG00000186049 chr12:52616368-52616368;C/T missense_variant False KRT73@p.A62V 1 0.16374269 ENSG00000186049 chr12:52618340-52618340;G/A missense_variant False KRT72@p.E375K 1 0.135135135 ENSG00000170486 chr12:52587818-52587818;C/T missense_variant False KRT71@p.Q167R 1 0.540540541 ENSG00000139648 chr12:52550185-52550185;T/C missense_variant False KRT78@p.Q337E 1 0.142857143 ENSG00000170423 chr12:52844131-52844131;G/C missense_variant False KRT71@p.K217N 1 0.1640625 ENSG00000139648 chr12:52550034-52550034;C/G missense_variant False KRT71@p.K135R 1 0.394230769 ENSG00000139648 chr12:52552674-52552674;T/C missense_variant False KRT71@p.E303K 1 0.219512195 ENSG00000139648 chr12:52548223-52548223;C/T missense_variant False KRT71@p.D426H 1 0.114285714 ENSG00000139648 chr12:52546335-52546335;C/G missense_variant False KRT6C@p.L330M 1 0.382222222 ENSG00000170465 chr12:52471221-52471221;G/T missense_variant False KRT6C@p.G536E 1 0.232142857 ENSG00000170465 chr12:52469150-52469150;C/T missense_variant False KRT74@p.S105F 1 0.418604651 ENSG00000170484 chr12:52573464-52573464;G/A missense_variant False KRT75@p.E279Q 1 0.145833333 ENSG00000170454 chr12:52431578-52431578;C/G missense_variant False KRT75@p.E369K 1 0.169811321 ENSG00000170454 chr12:52428674-52428674;C/T missense_variant False KRT75@p.E380K 1 0.179104478 ENSG00000170454 chr12:52428641-52428641;C/T missense_variant False KRT75@p.G54E 1 0.136363636 ENSG00000170454 chr12:52434144-52434144;C/T missense_variant False KRT75@p.R372C 1 0.472222222 ENSG00000170454 chr12:52428665-52428665;G/A missense_variant False KRT75@p.R60H 1 0.076335878 ENSG00000170454 chr12:52434126-52434126;C/T missense_variant False KRT76@p.F203L 1 0.31884058 ENSG00000185069 chr12:52775594-52775594;G/C missense_variant False KRT76@p.G132V 1 0.4 ENSG00000185069 chr12:52776897-52776897;C/A missense_variant False KRT76@p.G145D 1 0.307692308 ENSG00000185069 chr12:52776858-52776858;C/T missense_variant False KRT76@p.G38R 1 0.422535211 ENSG00000185069 chr12:52777180-52777180;C/T missense_variant False KRT76@p.R77Q 1 0.090452261 ENSG00000185069 chr12:52777062-52777062;C/T missense_variant False KRT77@p.G126S 1 0.285714286 ENSG00000189182 chr12:52703059-52703059;C/T missense_variant False KRT77@p.M380I 1 0.155555556 ENSG00000189182 chr12:52692821-52692821;C/T missense_variant False KRT77@p.Q8E 1 0.153846154 ENSG00000189182 chr12:52703413-52703413;G/C missense_variant False KRT77@p.S23C 1 0.162790698 ENSG00000189182 chr12:52703367-52703367;G/C missense_variant False KRT77@p.S568F 1 0.362068966 ENSG00000189182 chr12:52691199-52691199;G/A missense_variant False KRT8@p.S104Y 1 0.290322581 ENSG00000170421 chr12:52904671-52904671;G/T missense_variant False KRT9@p.D209Y 1 0.375 ENSG00000171403 chr17:41571368-41571368;C/A missense_variant False KRT9@p.E244Q 1 0.333333333 ENSG00000171403 chr17:41570011-41570011;C/G missense_variant False KRTAP19-1@p.G47C 1 0.43 ENSG00000184351 chr21:30480179-30480179;C/A missense_variant False KRTAP20-1@p.G40D 1 0.555555556 ENSG00000244624 chr21:30616573-30616573;G/A missense_variant False KRTAP19-5@p.G40D 1 0.119047619 ENSG00000186977 chr21:30501972-30501972;C/T missense_variant False KRTAP19-5@p.G39V 1 0.735294118 ENSG00000186977 chr21:30501975-30501975;C/A missense_variant False KRTAP19-5@p.G28E 1 0.370656371 ENSG00000186977 chr21:30502008-30502008;C/T missense_variant False KRTAP19-4@p.R34K 1 0.175757576 ENSG00000186967 chr21:30497010-30497010;C/T missense_variant False KRTAP19-1@p.G47V 1 0.427135678 ENSG00000184351 chr21:30480178-30480178;C/A missense_variant False KRTAP15-1@p.G44S 1 0.358024691 ENSG00000186970 chr21:30440457-30440457;G/A missense_variant False KRTAP13-1@p.G133E 1 0.642857143 ENSG00000198390 chr21:30396484-30396484;G/A missense_variant False KRTAP13-4@p.F155L 1 0.042253521 ENSG00000186971 chr21:30430740-30430740;C/G missense_variant False KRTAP13-4@p.C160Y 1 0.097560976 ENSG00000186971 chr21:30430754-30430754;G/A missense_variant False KRTAP13-3@p.E72K 1 0.294117647 ENSG00000240432 chr21:30425699-30425699;C/T missense_variant False KRTAP13-2@p.R163T 1 0.2125 ENSG00000182816 chr21:30371726-30371726;C/G missense_variant False KRTAP13-2@p.L110M 1 0.105263158 ENSG00000182816 chr21:30371886-30371886;G/T missense_variant False KRTAP13-2@p.D17N 1 0.513888889 ENSG00000182816 chr21:30372165-30372165;C/T missense_variant False KRTAP21-1@p.Y20C 1 0.401960784 ENSG00000187005 chr21:30755320-30755320;T/C missense_variant False KRTAP21-2@p.S81C 1 0.3984375 ENSG00000187026 chr21:30746961-30746961;G/C missense_variant False KRTAP21-2@p.Y43C 1 0.265625 ENSG00000187026 chr21:30747075-30747075;T/C missense_variant False KRTAP22-1@p.G12V 1 0.257352941 ENSG00000186924 chr21:30601155-30601155;G/T missense_variant False KRTAP22-1@p.G28D 1 0.92 ENSG00000186924 chr21:30601203-30601203;G/A missense_variant False KRTAP23-1@p.G27V 1 0.333333333 ENSG00000186980 chr21:30348527-30348527;C/A missense_variant False KRTAP24-1@p.C61W 1 0.333333333 ENSG00000188694 chr21:30282750-30282750;G/C missense_variant False KRTAP24-1@p.L165V 1 0.251428571 ENSG00000188694 chr21:30282440-30282440;G/C missense_variant False KRTAP26-1@p.P127L 1 0.461165049 ENSG00000197683 chr21:30319656-30319656;G/A missense_variant False KRTAP26-1@p.S191C 1 0.142487047 ENSG00000197683 chr21:30319465-30319465;T/A missense_variant False KRTAP27-1@p.E193G 1 0.126984127 ENSG00000206107 chr21:30337091-30337091;T/C missense_variant False KRTAP27-1@p.P16S 1 0.339285714 ENSG00000206107 chr21:30337623-30337623;G/A missense_variant False KRTAP3-1@p.P88L 1 0.292682927 ENSG00000212901 chr17:41008812-41008812;G/A missense_variant False KRTAP3-2@p.V62M 1 0.256410256 ENSG00000212900 chr17:40999670-40999670;C/T missense_variant False KRTAP4-12@p.C105W 1 0.235294118 ENSG00000213416 chr17:41123808-41123808;G/C missense_variant False KRTAP4-12@p.C61Y 1 0.059405941 ENSG00000213416 chr17:41123941-41123941;C/T missense_variant False KRTAP4-3@p.R41H 1 0.185185185 ENSG00000196156 chr17:41168051-41168051;C/T missense_variant False KRTAP13-1@p.P91A 1 0.209677419 ENSG00000198390 chr21:30396357-30396357;C/G missense_variant False KRTAP13-1@p.C161Y 1 0.170731707 ENSG00000198390 chr21:30396568-30396568;G/A missense_variant False KRT9@p.G597V 1 0.379310345 ENSG00000171403 chr17:41567355-41567355;C/A missense_variant False KRTAP1-5@p.G54E 1 0.363636364 ENSG00000221852 chr17:41026995-41026995;C/T missense_variant False KRTAP10-3@p.R163C 1 0.275 ENSG00000212935 chr21:44558229-44558229;G/A missense_variant False KRTAP10-11@p.V192A 1 0.070640177 ENSG00000243489 chr21:44647033-44647033;T/C missense_variant False KRTAP10-11@p.P29L 1 0.444444444 ENSG00000243489 chr21:44646544-44646544;C/T missense_variant False KRTAP10-10@p.S212F 1 0.457446809 ENSG00000221859 chr21:44638052-44638052;C/T missense_variant False KRTAP10-10@p.L193F 1 0.175895765 ENSG00000221859 chr21:44637994-44637994;C/T missense_variant False KRTAP10-10@p.C57R 1 0.242857143 ENSG00000221859 chr21:44637586-44637586;T/C missense_variant False KRTAP1-5@p.E77K 1 0.28 ENSG00000221852 chr17:41026927-41026927;C/T missense_variant False KRTAP12-4@p.F95L 1 0.139534884 ENSG00000212933 chr21:44654330-44654330;G/C missense_variant False KRTAP1-5@p.E31Q 1 0.303030303 ENSG00000221852 chr17:41027065-41027065;C/G missense_variant False KRTAP1-3@p.E67Q 1 0.745098039 ENSG00000221880 chr17:41034623-41034623;C/G missense_variant False KRTAP1-1@p.Y158H 1 0.096774194 ENSG00000188581 chr17:41040926-41040926;A/G missense_variant False KRTAP1-1@p.S34F 1 0.370967742 ENSG00000188581 chr17:41041297-41041297;G/A missense_variant False KRTAP1-1@p.S152Y 1 0.132075472 ENSG00000188581 chr17:41040943-41040943;G/T missense_variant False KRT9@p.P203L 1 0.17032967 ENSG00000171403 chr17:41571385-41571385;G/A missense_variant False KRTAP10-4@p.S183Y 1 0.257462687 ENSG00000215454 chr21:44574306-44574306;C/A missense_variant False KRTAP10-5@p.C199F 1 0.04526749 ENSG00000241123 chr21:44579983-44579983;C/A missense_variant False KRTAP10-5@p.E57K 1 0.188118812 ENSG00000241123 chr21:44580410-44580410;C/T missense_variant False KRTAP10-5@p.T5A 1 0.138461538 ENSG00000241123 chr21:44580566-44580566;T/C missense_variant False KRTAP10-6@p.E245K 1 0.214285714 ENSG00000188155 chr21:44591752-44591752;C/T missense_variant False KRTAP10-6@p.S212C 1 0.337313433 ENSG00000188155 chr21:44591850-44591850;G/C missense_variant False KRTAP10-6@p.S31F 1 0.365853659 ENSG00000188155 chr21:44592393-44592393;G/A missense_variant False KRTAP10-7@p.A3T 1 0.461538462 ENSG00000272804 chr21:44600628-44600628;G/A missense_variant False KRTAP10-7@p.C224W 1 0.233009709 ENSG00000272804 chr21:44601293-44601293;C/G missense_variant False KRTAP10-7@p.S133C 1 0.287958115 ENSG00000272804 chr21:44601019-44601019;C/G missense_variant False KRTAP10-8@p.P195L 1 0.472118959 ENSG00000187766 chr21:44612684-44612684;C/T missense_variant False KRTAP10-8@p.S227Y 1 0.182926829 ENSG00000187766 chr21:44612780-44612780;C/A missense_variant False KRTAP10-9@p.C47Y 1 0.212435233 ENSG00000221837 chr21:44627311-44627311;G/A missense_variant False KRTAP10-9@p.L45M 1 0.337662338 ENSG00000221837 chr21:44627304-44627304;C/A missense_variant False KRTAP11-1@p.S6C 1 0.241935484 ENSG00000182591 chr21:30881508-30881508;G/C missense_variant False KRTAP12-1@p.Q51Sfs*8 1 0.157894737 ENSG00000187175 chr21:44681973-44681973;G/- frameshift_variant False KRTAP12-4@p.C60Y 1 0.076923077 ENSG00000212933 chr21:44654436-44654436;C/T missense_variant False KRT6C@p.E294K 1 0.349315068 ENSG00000170465 chr12:52471453-52471453;C/T missense_variant False KRT6C@p.D459H 1 0.273684211 ENSG00000170465 chr12:52469719-52469719;C/G missense_variant False KRT6C@p.D329E 1 0.372727273 ENSG00000170465 chr12:52471222-52471222;G/T missense_variant False KRT19@p.R176Cfs*3 1 0.327777778 ENSG00000171345 chr17:41524978-41524979;-/AG frameshift_variant False KRT20@p.I124T 1 0.411764706 ENSG00000171431 chr17:40884815-40884815;A/G missense_variant False KRT20@p.G281E 1 0.063291139 ENSG00000171431 chr17:40879889-40879889;C/T missense_variant False KRT20@p.D200N 1 0.32 ENSG00000171431 chr17:40880646-40880646;C/T missense_variant False KRT1@p.D243G 1 0.20625 ENSG00000167768 chr12:52678620-52678620;T/C missense_variant False KRT19@p.Y363Lfs*75 1 0.152777778 ENSG00000171345 chr17:41523858-41523859;-/A frameshift_variant False KRT19@p.S9P 1 0.6 ENSG00000171345 chr17:41528223-41528223;A/G missense_variant False KRT19@p.P241A 1 0.188405797 ENSG00000171345 chr17:41524480-41524480;G/C missense_variant False KRT18@p.A161S 1 0.35 ENSG00000111057 chr12:52950391-52950391;G/T missense_variant False KRT19@p.I248Dfs*4 1 0.20754717 ENSG00000171345 chr17:41524460-41524461;-/T frameshift_variant False KRT19@p.E307Q 1 0.488372093 ENSG00000171345 chr17:41524172-41524172;C/G missense_variant False KRT19@p.D322N 1 0.447368421 ENSG00000171345 chr17:41523982-41523982;C/T missense_variant False KRT19@p.A318_A319del 1 0.301886792 ENSG00000171345 chr17:41523989-41523994;GGCAGC/- inframe_deletion False KRT18@p.M74L 1 0.346938776 ENSG00000111057 chr12:52949393-52949393;A/T missense_variant False KRT18@p.E204K 1 0.416666667 ENSG00000111057 chr12:52950859-52950859;G/A missense_variant False KRT20@p.Q135E 1 0.347222222 ENSG00000171431 chr17:40882642-40882642;G/C missense_variant False KRT20@p.Q251H 1 0.111111111 ENSG00000171431 chr17:40880139-40880139;C/G missense_variant False KRT20@p.T292N 1 0.078947368 ENSG00000171431 chr17:40879856-40879856;G/T missense_variant False KRT20@p.T31M 1 0.360655738 ENSG00000171431 chr17:40885094-40885094;G/A missense_variant False KRT222@p.D252H 1 0.274336283 ENSG00000264058 chr17:40656536-40656536;C/G missense_variant False KRT222@p.E116Q 1 0.56043956 ENSG00000264058 chr17:40660087-40660087;C/G missense_variant False KRT222@p.E274Q 1 0.172222222 ENSG00000264058 chr17:40656470-40656470;C/G missense_variant False KRT222@p.L249V 1 0.382352941 ENSG00000264058 chr17:40656545-40656545;G/C missense_variant False KRT222@p.L48F 1 0.246753247 ENSG00000264058 chr17:40661997-40661997;C/G missense_variant False KRT222@p.S181Y 1 0.461538462 ENSG00000264058 chr17:40657469-40657469;G/T missense_variant False KRT23@p.E215Q 1 0.040935673 ENSG00000108244 chr17:40928601-40928601;C/G missense_variant False KRT24@p.D177N 1 0.537037037 ENSG00000167916 chr17:40703165-40703165;C/T missense_variant False KRT24@p.E284K 1 0.27173913 ENSG00000167916 chr17:40701145-40701145;C/T missense_variant False KRT24@p.E333K 1 0.61 ENSG00000167916 chr17:40700242-40700242;C/T missense_variant False KRT24@p.R19K 1 0.303030303 ENSG00000167916 chr17:40703638-40703638;C/T missense_variant False KRT25@p.R169I 1 0.3 ENSG00000204897 chr17:40754392-40754392;C/A missense_variant False KRT25@p.R169T 1 0.313253012 ENSG00000204897 chr17:40754392-40754392;C/G missense_variant False KRT18@p.A246D 1 0.285714286 ENSG00000111057 chr12:52951560-52951560;C/A missense_variant False KRT17@p.T306S 1 0.11023622 ENSG00000128422 chr17:41621009-41621009;G/C missense_variant False KRT26@p.L90V 1 0.111111111 ENSG00000186393 chr17:40771846-40771846;G/C missense_variant False KRIT1@p.R106K 1 0.614457831 ENSG00000001631 chr7:92237705-92237705;C/T missense_variant False KRT10@p.S562C 1 0.6 ENSG00000186395 chr17:40818850-40818850;G/C missense_variant False KRT10@p.S12F 1 0.363636364 ENSG00000186395 chr17:40822551-40822551;G/A missense_variant False KRT10@p.R450H 1 0.455555556 ENSG00000186395 chr17:40819541-40819541;C/T missense_variant False KRT10@p.R194S 1 0.373333333 ENSG00000186395 chr17:40822006-40822006;G/T missense_variant False KRT10@p.E278K 1 0.13740458 ENSG00000186395 chr17:40820546-40820546;C/T missense_variant False KRR1@p.S5L 1 0.147058824 ENSG00000111615 chr12:75511584-75511584;G/A missense_variant False KRIT1@p.Q446H 1 0.125 ENSG00000001631 chr7:92222895-92222895;C/G missense_variant False KRT17@p.S58F 1 0.34 ENSG00000128422 chr17:41624337-41624337;G/A missense_variant False KRIT1@p.P392A 1 0.095652174 ENSG00000001631 chr7:92225800-92225800;G/C missense_variant False KRIT1@p.P114T 1 0.093023256 ENSG00000001631 chr7:92237682-92237682;G/T missense_variant False KRIT1@p.L608I 1 0.290322581 ENSG00000001631 chr7:92213398-92213398;G/T missense_variant False KRIT1@p.L359F 1 0.423076923 ENSG00000001631 chr7:92226597-92226597;G/A missense_variant False KRIT1@p.F111V 1 0.41025641 ENSG00000001631 chr7:92237691-92237691;A/C missense_variant False KRIT1@p.E420K 1 0.457627119 ENSG00000001631 chr7:92222975-92222975;C/T missense_variant False KRT12@p.E254K 1 0.333333333 ENSG00000187242 chr17:40864853-40864853;C/T missense_variant False KRT12@p.G41S 1 0.246153846 ENSG00000187242 chr17:40867066-40867066;C/T missense_variant False KRT13@p.K135* 1 0.096153846 ENSG00000171401 chr17:41505148-41505149;-/CA frameshift_variant False KRT13@p.R272C 1 0.055785124 ENSG00000171401 chr17:41503020-41503020;G/A missense_variant False KRT13@p.V122G 1 0.077669903 ENSG00000171401 chr17:41505186-41505186;A/C missense_variant False KRT14@p.E303K 1 0.093333333 ENSG00000186847 chr17:41583780-41583780;C/T missense_variant False KRT14@p.S241I 1 0.153153153 ENSG00000186847 chr17:41584300-41584300;C/A missense_variant False KRT15@p.E400K 1 0.088 ENSG00000171346 chr17:41515521-41515521;C/T missense_variant False KRT15@p.F157L 1 0.209302326 ENSG00000171346 chr17:41518357-41518357;G/C missense_variant False KRT16@p.E424K 1 0.098765432 ENSG00000186832 chr17:41610341-41610341;C/T missense_variant False KRT16@p.F168L 1 0.516483516 ENSG00000186832 chr17:41612185-41612185;G/C missense_variant False KRT16@p.G268A 1 0.361702128 ENSG00000186832 chr17:41611199-41611199;C/G missense_variant False KRT16@p.G88S 1 0.268656716 ENSG00000186832 chr17:41612427-41612427;C/T missense_variant False KRT16@p.S381G 1 0.305676856 ENSG00000186832 chr17:41610470-41610470;T/C missense_variant False KRT17@p.E325Q 1 0.092592593 ENSG00000128422 chr17:41620867-41620867;C/G missense_variant False KRT17@p.E359K 1 0.175675676 ENSG00000128422 chr17:41620765-41620765;C/T missense_variant False KRT17@p.S58C 1 0.14516129 ENSG00000128422 chr17:41624337-41624337;G/C missense_variant False KRT26@p.A181T 1 0.287128713 ENSG00000186393 chr17:40770393-40770393;C/T missense_variant False KRT26@p.S2C 1 0.125 ENSG00000186393 chr17:40772109-40772109;G/C missense_variant False KRT6C@p.D179N 1 0.123655914 ENSG00000170465 chr12:52473203-52473203;C/T missense_variant False KRT39@p.E392Q 1 0.290780142 ENSG00000196859 chr17:40960324-40960324;C/G missense_variant False KRT40@p.E318Q 1 0.177777778 ENSG00000204889 chr17:40980808-40980808;C/G missense_variant False KRT40@p.E285Q 1 0.407821229 ENSG00000204889 chr17:40980907-40980907;C/G missense_variant False KRT40@p.D240N 1 0.16875 ENSG00000204889 chr17:40981121-40981121;C/T missense_variant False KRT3@p.I446V 1 0.444444444 ENSG00000186442 chr12:52791405-52791405;T/C missense_variant False KRT3@p.A456S 1 0.065420561 ENSG00000186442 chr12:52791375-52791375;C/A missense_variant False KRT39@p.S169L 1 0.079136691 ENSG00000196859 chr17:40964491-40964491;G/A missense_variant False KRT39@p.E380Q 1 0.116883117 ENSG00000196859 chr17:40960360-40960360;C/G missense_variant False KRT37@p.C417R 1 0.230769231 ENSG00000108417 chr17:41420979-41420979;A/G missense_variant False KRT39@p.E163K 1 0.216666667 ENSG00000196859 chr17:40964510-40964510;C/T missense_variant False KRT38@p.V49M 1 0.081481481 ENSG00000171360 chr17:41440777-41440777;C/T missense_variant False KRT38@p.S59F 1 0.109090909 ENSG00000171360 chr17:41440746-41440746;G/A missense_variant False KRT38@p.E375K 1 0.212121212 ENSG00000171360 chr17:41438211-41438211;C/T missense_variant False KRT38@p.D223Y 1 0.253333333 ENSG00000171360 chr17:41439268-41439268;C/A missense_variant False KRT37@p.S9L 1 0.22556391 ENSG00000108417 chr17:41424498-41424498;G/A missense_variant False KRT40@p.G75K 1 0.180487805 ENSG00000204889 chr17:40984049-40984052;CCCC/TTTT missense_variant False KRT40@p.L238R 1 0.258741259 ENSG00000204889 chr17:40981126-40981126;A/C missense_variant False KRT4@p.F151L 1 0.158536585 ENSG00000170477 chr12:52813606-52813606;G/C missense_variant False KRT4@p.G37A 1 0.183098592 ENSG00000170477 chr12:52813949-52813949;C/G missense_variant False KRT4@p.R234H 1 0.243589744 ENSG00000170477 chr12:52810793-52810793;C/T missense_variant False KRT4@p.R312S 1 0.397849462 ENSG00000170477 chr12:52808751-52808751;G/T missense_variant False KRT5@p.E269D 1 0.0625 ENSG00000186081 chr12:52518127-52518127;C/G missense_variant False KRT5@p.E269Q 1 0.113879004 ENSG00000186081 chr12:52518129-52518129;C/G missense_variant False KRT5@p.E367Q 1 0.393442623 ENSG00000186081 chr12:52517226-52517226;C/G missense_variant False KRT5@p.F306L 1 0.444444444 ENSG00000186081 chr12:52517906-52517906;G/T missense_variant False KRT5@p.L516F 1 0.1875 ENSG00000186081 chr12:52515169-52515169;G/A missense_variant False KRT6A@p.D411Hfs*2 1 0.283950617 ENSG00000205420 chr12:52488521-52488522;-/AATG frameshift_variant False KRT6A@p.E165K 1 0.13317757 ENSG00000205420 chr12:52492696-52492696;C/T missense_variant False KRT6A@p.E351K 1 0.364197531 ENSG00000205420 chr12:52490595-52490595;C/T missense_variant False KRT6A@p.M452I 1 0.327586207 ENSG00000205420 chr12:52488396-52488396;C/T missense_variant False KRT6B@p.L150V 1 0.121212121 ENSG00000185479 chr12:52451631-52451631;G/C missense_variant False KRT6B@p.S317Y 1 0.108761329 ENSG00000185479 chr12:52449596-52449596;G/T missense_variant False KRT37@p.P78S 1 0.159090909 ENSG00000108417 chr17:41424292-41424292;G/A missense_variant False KRT36@p.S26C 1 0.272727273 ENSG00000126337 chr17:41489788-41489788;G/C missense_variant False KRT27@p.E244K 1 0.220338983 ENSG00000171446 chr17:40779816-40779816;C/T missense_variant False KRT2@p.S509L 1 0.485915493 ENSG00000172867 chr12:52645413-52645413;G/A missense_variant False KRT32@p.A74D 1 0.149171271 ENSG00000108759 chr17:41467105-41467105;G/T missense_variant False KRT32@p.A177P 1 0.490566038 ENSG00000108759 chr17:41466116-41466116;C/G missense_variant False KRT31@p.S392C 1 0.238410596 ENSG00000094796 chr17:41394092-41394092;G/C missense_variant False KRT31@p.I353M 1 0.25 ENSG00000094796 chr17:41394886-41394886;G/C missense_variant False KRT31@p.F107Y 1 0.095238095 ENSG00000094796 chr17:41397220-41397220;A/T missense_variant False KRT31@p.E361D 1 0.219512195 ENSG00000094796 chr17:41394862-41394862;C/G missense_variant False KRT2@p.L335F 1 0.0625 ENSG00000172867 chr12:52648292-52648292;G/A missense_variant False KRT36@p.R451K 1 0.260416667 ENSG00000126337 chr17:41486428-41486428;C/T missense_variant False KRT2@p.G551S 1 0.209395973 ENSG00000172867 chr12:52645288-52645288;C/T missense_variant False KRT2@p.G13R 1 0.333333333 ENSG00000172867 chr12:52652106-52652106;C/T missense_variant False KRT28@p.F464L 1 0.130434783 ENSG00000173908 chr17:40792430-40792430;G/C missense_variant False KRT28@p.E367K 1 0.105590062 ENSG00000173908 chr17:40793926-40793926;C/T missense_variant False KRT28@p.A346V 1 0.433823529 ENSG00000173908 chr17:40793988-40793988;G/A missense_variant False KRT27@p.E306K 1 0.087719298 ENSG00000171446 chr17:40779558-40779558;C/T missense_variant False KRT32@p.E123K 1 0.23943662 ENSG00000108759 chr17:41466959-41466959;C/T missense_variant False KRT33A@p.D379E 1 0.059701493 ENSG00000006059 chr17:41346197-41346197;G/C missense_variant False KRT33A@p.Q313L 1 0.365384615 ENSG00000006059 chr17:41346607-41346607;T/A missense_variant False KRT33A@p.R334L 1 0.412621359 ENSG00000006059 chr17:41346544-41346544;C/A missense_variant False KRT33B@p.A218T 1 0.320754717 ENSG00000131738 chr17:41365490-41365490;C/T missense_variant False KRT33B@p.E111Q 1 0.346938776 ENSG00000131738 chr17:41369420-41369420;C/G missense_variant False KRT33B@p.E304K 1 0.54 ENSG00000131738 chr17:41364966-41364966;C/T missense_variant False KRT33B@p.E363K 1 0.172413793 ENSG00000131738 chr17:41364789-41364789;C/T missense_variant False KRT33B@p.E56K 1 0.224719101 ENSG00000131738 chr17:41369585-41369585;C/T missense_variant False KRT33B@p.L343M 1 0.555555556 ENSG00000131738 chr17:41364849-41364849;G/T missense_variant False KRT33B@p.R334W 1 0.044742729 ENSG00000131738 chr17:41364876-41364876;G/A missense_variant False KRT34@p.E313K 1 0.084745763 ENSG00000131737 chr17:41379418-41379418;C/T missense_variant False KRT34@p.G53S 1 0.218181818 ENSG00000131737 chr17:41382216-41382216;C/T missense_variant False KRT34@p.L160V 1 0.47 ENSG00000131737 chr17:41381792-41381792;G/C missense_variant False KRT35@p.R193P 1 0.50273224 ENSG00000197079 chr17:41479480-41479480;C/G missense_variant False KRT35@p.S420C 1 0.164179104 ENSG00000197079 chr17:41477165-41477165;G/C missense_variant False KRT36@p.C6Y 1 0.172413793 ENSG00000126337 chr17:41489848-41489848;C/T missense_variant False LGALS14@p.R55Q 1 0.248587571 ENSG00000006659 chr19:39707249-39707249;G/A missense_variant False LGALS3@p.R129C 1 0.375 ENSG00000131981 chr14:55140317-55140317;C/T missense_variant False LGALS4@p.R279G 1 0.290909091 ENSG00000171747 chr19:38801901-38801901;G/C missense_variant False LRP2@p.G738R 1 0.162162162 ENSG00000081479 chr2:169271012-169271012;C/T missense_variant False LRP2@p.Q3034H 1 0.460784314 ENSG00000081479 chr2:169188196-169188196;C/A missense_variant False LRP2@p.Q162E 1 0.5 ENSG00000081479 chr2:169294654-169294654;G/C missense_variant False LRP2@p.M2493I 1 0.405660377 ENSG00000081479 chr2:169206100-169206100;C/G missense_variant False LRP2@p.L2360V 1 0.183673469 ENSG00000081479 chr2:169206642-169206642;G/C missense_variant False LRP2@p.L2297F 1 0.169491525 ENSG00000081479 chr2:169206829-169206829;C/A missense_variant False LRP2@p.I3454T 1 0.265306122 ENSG00000081479 chr2:169177835-169177835;A/G missense_variant False LRP2@p.F3133S 1 0.489361702 ENSG00000081479 chr2:169185950-169185950;A/G missense_variant False LRP2@p.R2126T 1 0.18556701 ENSG00000081479 chr2:169209545-169209545;C/G missense_variant False LRP2@p.E3996K 1 0.354166667 ENSG00000081479 chr2:169157404-169157404;C/T missense_variant False LRP2@p.E323Q 1 0.130952381 ENSG00000081479 chr2:169289101-169289101;C/G missense_variant False LRP2@p.E3024K 1 0.089552239 ENSG00000081479 chr2:169188228-169188228;C/T missense_variant False LRP2@p.E2984D 1 0.631578947 ENSG00000081479 chr2:169191912-169191912;C/G missense_variant False LRP2@p.E187Q 1 0.321428571 ENSG00000081479 chr2:169294241-169294241;C/G missense_variant False LRP2@p.E1344Q 1 0.267241379 ENSG00000081479 chr2:169241003-169241003;C/G missense_variant False LRP2@p.Q75H 1 0.135135135 ENSG00000081479 chr2:169318847-169318847;C/A missense_variant False LRP2@p.R2574K 1 0.355555556 ENSG00000081479 chr2:169204266-169204266;C/T missense_variant False LRRC27@p.E298D 1 0.53 ENSG00000148814 chr10:132348324-132348324;G/C missense_variant False LRP2@p.Y2763C 1 0.171052632 ENSG00000081479 chr2:169201792-169201792;T/C missense_variant False LRP4@p.H477Y 1 0.90625 ENSG00000134569 chr11:46894700-46894700;G/A missense_variant False LRP4@p.E480Lfs*41 1 0.206896552 ENSG00000134569 chr11:46894685-46894692;CAAGCTCG/- frameshift_variant False LRP4@p.D785N 1 0.393939394 ENSG00000134569 chr11:46886396-46886396;C/T missense_variant False LRP4@p.D211H 1 0.481481481 ENSG00000134569 chr11:46898949-46898949;C/G missense_variant False LRP4@p.D1583N 1 0.366666667 ENSG00000134569 chr11:46869078-46869078;C/T missense_variant False LRP3@p.D725N 1 0.3125 ENSG00000130881 chr19:33207435-33207435;G/A missense_variant False LRP2@p.W3956C 1 0.367088608 ENSG00000081479 chr2:169162491-169162491;C/A missense_variant False LRP2@p.R2990S 1 0.299145299 ENSG00000081479 chr2:169191894-169191894;C/G missense_variant False LRP2@p.V4435I 1 0.228571429 ENSG00000081479 chr2:169139336-169139336;C/T missense_variant False LRP2@p.T1938S 1 0.396039604 ENSG00000081479 chr2:169216266-169216266;G/C missense_variant False LRP2@p.S84C 1 0.088888889 ENSG00000081479 chr2:169318821-169318821;G/C missense_variant False LRP2@p.S642_V648del 1 0.357142857 ENSG00000081479 chr2:169275068-169275088;ACTCCATAGGGCCTCAGGGAA/- inframe_deletion False LRP2@p.S3357F 1 0.180952381 ENSG00000081479 chr2:169181547-169181547;G/A missense_variant False LRP2@p.R4065P 1 0.265957447 ENSG00000081479 chr2:169154561-169154561;C/G missense_variant False LRP2@p.D4160H 1 0.118181818 ENSG00000081479 chr2:169151010-169151010;C/G missense_variant False LRP2@p.D4150Y 1 0.077419355 ENSG00000081479 chr2:169152812-169152812;C/A missense_variant False LRP2@p.D3792N 1 0.104477612 ENSG00000081479 chr2:169170557-169170557;C/T missense_variant False LRP1B@p.H42D 1 0.369565217 ENSG00000168702 chr2:141810360-141810360;G/C missense_variant False LRP1B@p.L2159F 1 0.219354839 ENSG00000168702 chr2:140700574-140700574;G/A missense_variant False LRP1B@p.L1797V 1 0.161290323 ENSG00000168702 chr2:140776209-140776209;A/C missense_variant False LRP1B@p.L1576I 1 0.4 ENSG00000168702 chr2:140850315-140850315;G/T missense_variant False LRP1B@p.I3057M 1 0.32 ENSG00000168702 chr2:140487689-140487689;G/C missense_variant False LRP1B@p.I250T 1 0.35 ENSG00000168702 chr2:141229284-141229284;A/G missense_variant False LRP1B@p.I1546M 1 0.306451613 ENSG00000168702 chr2:140851725-140851725;G/C missense_variant False LRP1B@p.H4165Y 1 0.170731707 ENSG00000168702 chr2:140323914-140323914;G/A missense_variant False LRP2@p.D2850H 1 0.095238095 ENSG00000081479 chr2:169198816-169198816;C/G missense_variant False LRP1B@p.H2277D 1 0.342105263 ENSG00000168702 chr2:140601610-140601610;G/C missense_variant False LRP1B@p.G3345A 1 0.419354839 ENSG00000168702 chr2:140450591-140450591;C/G missense_variant False LRP1B@p.G2111C 1 0.224137931 ENSG00000168702 chr2:140701817-140701817;C/A missense_variant False LRP1B@p.G1339S 1 0.08988764 ENSG00000168702 chr2:140883971-140883971;C/T missense_variant False LRP1B@p.F1261V 1 0.45 ENSG00000168702 chr2:140886321-140886321;A/C missense_variant False LRP1B@p.E522Q 1 0.323529412 ENSG00000168702 chr2:141049211-141049211;C/G missense_variant False LRP1B@p.L2654M 1 0.230769231 ENSG00000168702 chr2:140525910-140525910;G/T missense_variant False LRP1B@p.L279I 1 0.535714286 ENSG00000168702 chr2:141229198-141229198;G/T missense_variant False LRP1B@p.L810F 1 0.11627907 ENSG00000168702 chr2:141005408-141005408;C/G missense_variant False LRP1B@p.M644I 1 0.725490196 ENSG00000168702 chr2:141019960-141019960;C/T missense_variant False LRP1B@p.N1796K 1 0.090909091 ENSG00000168702 chr2:140776210-140776210;G/C missense_variant False LRP1B@p.N3185Y 1 0.171428571 ENSG00000168702 chr2:140475210-140475210;T/A missense_variant False LRP1B@p.P4073L 1 0.330275229 ENSG00000168702 chr2:140334458-140334458;G/A missense_variant False LRP1B@p.Q463E 1 0.107142857 ENSG00000168702 chr2:141058904-141058904;G/C missense_variant False LRP1B@p.Q467E 1 0.196428571 ENSG00000168702 chr2:141058892-141058892;G/C missense_variant False LRP1B@p.R3239P 1 0.225352113 ENSG00000168702 chr2:140457561-140457561;C/G missense_variant False LRP1B@p.R3415I 1 0.188311688 ENSG00000168702 chr2:140444380-140444380;C/A missense_variant False LRP1B@p.R3950S 1 0.14893617 ENSG00000168702 chr2:140350839-140350839;C/G missense_variant False LRP1B@p.S4266L 1 0.317460317 ENSG00000168702 chr2:140314943-140314943;G/A missense_variant False LRP1B@p.T2181S 1 0.252336449 ENSG00000168702 chr2:140700508-140700508;T/A missense_variant False LRP1B@p.W4240L 1 0.092783505 ENSG00000168702 chr2:140315021-140315021;C/A missense_variant False LRP2@p.D1301N 1 0.192307692 ENSG00000081479 chr2:169241132-169241132;C/T missense_variant False LRP2@p.D2190H 1 0.524271845 ENSG00000081479 chr2:169207152-169207152;C/G missense_variant False LRP4@p.R1060C 1 0.409090909 ENSG00000134569 chr11:46877298-46877298;G/A missense_variant False LRP4@p.R447C 1 0.30952381 ENSG00000134569 chr11:46894790-46894790;G/A missense_variant False LRP4@p.S530L 1 0.278688525 ENSG00000134569 chr11:46893081-46893081;G/A missense_variant False LRRC14@p.P27L 1 0.117647059 ENSG00000160959 chr8:144519805-144519805;C/T missense_variant False LRRC14B@p.P431S 1 0.452380952 ENSG00000185028 chr5:195099-195099;C/T missense_variant False LRRC14B@p.F499L 1 0.19047619 ENSG00000185028 chr5:195305-195305;C/G missense_variant False LRRC14B@p.A498S 1 0.054945055 ENSG00000185028 chr5:195300-195300;G/T missense_variant False LRRC14@p.S297L 1 0.173076923 ENSG00000160959 chr8:144520798-144520798;C/T missense_variant False LRRC14@p.S294Y 1 0.145454545 ENSG00000160959 chr8:144520789-144520789;C/A missense_variant False LRRC14@p.S177C 1 0.153846154 ENSG00000160959 chr8:144520438-144520438;C/G missense_variant False LRRC14@p.F318L 1 0.153846154 ENSG00000160959 chr8:144520950-144520950;C/G missense_variant False LRPPRC@p.Q956H 1 0.457317073 ENSG00000138095 chr2:43925095-43925095;C/G missense_variant False LRRC14@p.F273V 1 0.101265823 ENSG00000160959 chr8:144520725-144520725;T/G missense_variant False LRRC14@p.A421V 1 0.188679245 ENSG00000160959 chr8:144521258-144521258;C/T missense_variant False LRRC10@p.R178Q 1 0.098958333 ENSG00000198812 chr12:69610306-69610306;C/T missense_variant False LRR1@p.E250K 1 0.177419355 ENSG00000165501 chr14:49607865-49607865;G/A missense_variant False LRPPRC@p.S839F 1 0.444444444 ENSG00000138095 chr2:43934867-43934867;G/A missense_variant False LRPPRC@p.S821F 1 0.220779221 ENSG00000138095 chr2:43943729-43943729;G/A missense_variant False LRRC15@p.L518V 1 0.145454545 ENSG00000172061 chr3:194359492-194359492;G/C missense_variant False LRRC15@p.S253C 1 0.205128205 ENSG00000172061 chr3:194360286-194360286;G/C missense_variant False LRRC15@p.V529I 1 0.116666667 ENSG00000172061 chr3:194359459-194359459;C/T missense_variant False LRRC17@p.F125L 1 0.243589744 ENSG00000128606 chr7:102934288-102934288;C/G missense_variant False LRRC17@p.G51D 1 0.179487179 ENSG00000128606 chr7:102934065-102934065;G/A missense_variant False LRRC17@p.H359R 1 0.12605042 ENSG00000128606 chr7:102944357-102944357;A/G missense_variant False LRRC17@p.H425R 1 0.383333333 ENSG00000128606 chr7:102944555-102944555;A/G missense_variant False LRRC17@p.I437T 1 0.603773585 ENSG00000128606 chr7:102944591-102944591;T/C missense_variant False LRRC17@p.K191E 1 0.441558442 ENSG00000128606 chr7:102934484-102934484;A/G missense_variant False LRRC18@p.A125T 1 0.25 ENSG00000165383 chr10:48913783-48913783;C/T missense_variant False LRRC18@p.A209S 1 0.185714286 ENSG00000165383 chr10:48913531-48913531;C/A missense_variant False LRRC18@p.R218Q 1 0.24137931 ENSG00000165383 chr10:48913503-48913503;C/T missense_variant False LRRC19@p.E317K 1 0.10989011 ENSG00000184434 chr9:26995685-26995685;C/T missense_variant False LRRC1@p.A45P 1 0.459459459 ENSG00000137269 chr6:53795389-53795389;G/C missense_variant False LRRC1@p.E178K 1 0.25 ENSG00000137269 chr6:53896857-53896857;G/A missense_variant False LRRC1@p.L429V 1 0.15 ENSG00000137269 chr6:53920630-53920630;C/G missense_variant False LRRC23@p.H69Y 1 0.322580645 ENSG00000010626 chr12:6905923-6905923;C/T missense_variant False LRPPRC@p.R95P 1 0.138461538 ENSG00000138095 chr2:43982300-43982300;C/G missense_variant False LRPPRC@p.Q69E 1 0.202380952 ENSG00000138095 chr2:43982379-43982379;G/C missense_variant False LRP4@p.V787M 1 0.291666667 ENSG00000134569 chr11:46886390-46886390;C/T missense_variant False LRP5@p.R373W 1 0.133333333 ENSG00000162337 chr11:68386417-68386417;C/T missense_variant False LRP6@p.E472Q 1 0.125 ENSG00000070018 chr12:12179941-12179941;C/G missense_variant False LRP6@p.E446Q 1 0.788235294 ENSG00000070018 chr12:12181080-12181080;C/G missense_variant False LRP6@p.E357K 1 0.124031008 ENSG00000070018 chr12:12181347-12181347;C/T missense_variant False LRP6@p.E1127K 1 0.422680412 ENSG00000070018 chr12:12147384-12147384;C/T missense_variant False LRP6@p.A26_N38del 1 0.112903226 ENSG00000070018 chr12:12244596-12244634;CATTTGTAGCATCAACCAATCGCAAGTCCCGTCTGTTTG/- inframe_deletion False LRP5@p.R40C 1 0.10373444 ENSG00000162337 chr11:68347873-68347873;C/T missense_variant False LRP5@p.I1335M 1 0.191011236 ENSG00000162337 chr11:68436893-68436893;C/G missense_variant False LRPPRC@p.L126V 1 0.346938776 ENSG00000138095 chr2:43979919-43979919;G/C missense_variant False LRP5@p.G550E 1 0.424242424 ENSG00000162337 chr11:68403547-68403547;G/A missense_variant False LRP5@p.E1102K 1 0.485148515 ENSG00000162337 chr11:68425169-68425169;G/A missense_variant False LRP5@p.D562H 1 0.361111111 ENSG00000162337 chr11:68403582-68403582;G/C missense_variant False LRP5@p.D371N 1 0.434782609 ENSG00000162337 chr11:68386411-68386411;G/A missense_variant False LRP4@p.Y1570C 1 0.131578947 ENSG00000134569 chr11:46869116-46869116;T/C missense_variant False LRP4@p.W1893C 1 0.614285714 ENSG00000134569 chr11:46859022-46859022;C/G missense_variant False LRP6@p.E564K 1 0.346153846 ENSG00000070018 chr12:12165151-12165151;C/T missense_variant False LRP6@p.E708Q 1 0.130769231 ENSG00000070018 chr12:12162350-12162350;C/G missense_variant False LRP6@p.H534N 1 0.327731092 ENSG00000070018 chr12:12165241-12165241;G/T missense_variant False LRP6@p.I1393M 1 0.12745098 ENSG00000070018 chr12:12126824-12126824;G/C missense_variant False LRP6@p.R1093W 1 0.064814815 ENSG00000070018 chr12:12147486-12147486;G/A missense_variant False LRP6@p.R675Q 1 0.163636364 ENSG00000070018 chr12:12164301-12164301;C/T missense_variant False LRP6@p.V528A 1 0.594059406 ENSG00000070018 chr12:12165258-12165258;A/G missense_variant False LRP8@p.D70N 1 0.25 ENSG00000157193 chr1:53326909-53326909;C/T missense_variant False LRP8@p.E160K 1 0.255813953 ENSG00000157193 chr1:53280605-53280605;C/T missense_variant False LRP8@p.E431Q 1 0.426229508 ENSG00000157193 chr1:53266609-53266609;C/G missense_variant False LRP8@p.G588R 1 0.103448276 ENSG00000157193 chr1:53262458-53262458;C/T missense_variant False LRP8@p.S714F 1 0.172043011 ENSG00000157193 chr1:53258387-53258387;G/A missense_variant False LRPAP1@p.E309Q 1 0.110526316 ENSG00000163956 chr4:3514838-3514838;C/G missense_variant False LRPPRC@p.D847N 1 0.111111111 ENSG00000138095 chr2:43934844-43934844;C/T missense_variant False LRPPRC@p.E1068K 1 0.138461538 ENSG00000138095 chr2:43912505-43912505;C/T missense_variant False LRPPRC@p.E562K 1 0.357142857 ENSG00000138095 chr2:43949653-43949653;C/T missense_variant False LRPPRC@p.K102N 1 0.23255814 ENSG00000138095 chr2:43982278-43982278;C/G missense_variant False LRP1B@p.E4499K 1 0.161764706 ENSG00000168702 chr2:140238217-140238217;C/T missense_variant False LRP1B@p.E4427K 1 0.625 ENSG00000168702 chr2:140247131-140247131;C/T missense_variant False LRP1B@p.E3875Q 1 0.545454545 ENSG00000168702 chr2:140352980-140352980;C/G missense_variant False LRIG1@p.E103K 1 0.422764228 ENSG00000144749 chr3:66451617-66451617;C/T missense_variant False LRIG1@p.Y1054H 1 0.230769231 ENSG00000144749 chr3:66380385-66380385;A/G missense_variant False LRIG1@p.V118I 1 0.298200514 ENSG00000144749 chr3:66451572-66451572;C/T missense_variant False LRIG1@p.S1033Y 1 0.098765432 ENSG00000144749 chr3:66380447-66380447;G/T missense_variant False LRIG1@p.N539I 1 0.451977401 ENSG00000144749 chr3:66386154-66386154;T/A missense_variant False LRIG1@p.G181V 1 0.318181818 ENSG00000144749 chr3:66415025-66415025;C/A missense_variant False LRIG1@p.E860K 1 0.604166667 ENSG00000144749 chr3:66382312-66382312;C/T missense_variant False LRIG1@p.A683V 1 0.720930233 ENSG00000144749 chr3:66384014-66384014;G/A missense_variant False LRIF1@p.E116Q 1 0.423529412 ENSG00000121931 chr1:110952538-110952538;C/G missense_variant False LRIG1@p.A683P 1 0.75 ENSG00000144749 chr3:66384015-66384015;C/G missense_variant False LRIF1@p.V165I 1 0.1375 ENSG00000121931 chr1:110952391-110952391;C/T missense_variant False LRIF1@p.S21L 1 0.2 ENSG00000121931 chr1:110963627-110963627;G/A missense_variant False LRIF1@p.S103F 1 0.461538462 ENSG00000121931 chr1:110952576-110952576;G/A missense_variant False LRIF1@p.R557K 1 0.080645161 ENSG00000121931 chr1:110950050-110950050;C/T missense_variant False LRIF1@p.K325R 1 0.136363636 ENSG00000121931 chr1:110951910-110951910;T/C missense_variant False LRIG2@p.C447Y 1 0.15625 ENSG00000198799 chr1:113107620-113107620;G/A missense_variant False LRIG2@p.E575K 1 0.213114754 ENSG00000198799 chr1:113110487-113110487;G/A missense_variant False LRIG2@p.R832K 1 0.163934426 ENSG00000198799 chr1:113114841-113114841;G/A missense_variant False LRIG2@p.S821C 1 0.130434783 ENSG00000198799 chr1:113114808-113114808;C/G missense_variant False LRIG2@p.V659I 1 0.144927536 ENSG00000198799 chr1:113112655-113112655;G/A missense_variant False LRIG3@p.E143K 1 0.3 ENSG00000139263 chr12:58890753-58890753;C/T missense_variant False LRIG3@p.E576K 1 0.212765957 ENSG00000139263 chr12:58880656-58880656;C/T missense_variant False LRIG3@p.H1004D 1 0.420634921 ENSG00000139263 chr12:58874160-58874160;G/C missense_variant False LRIG3@p.P726R 1 0.216049383 ENSG00000139263 chr12:58877759-58877759;G/C missense_variant False LRIG3@p.P788A 1 0.635135135 ENSG00000139263 chr12:58877574-58877574;G/C missense_variant False LRIG3@p.P976T 1 0.480769231 ENSG00000139263 chr12:58874244-58874244;G/T missense_variant False LRIG3@p.S205L 1 0.391752577 ENSG00000139263 chr12:58890041-58890041;G/A missense_variant False LRIG3@p.S874L 1 0.161764706 ENSG00000139263 chr12:58876519-58876519;G/A missense_variant False LRIG3@p.V673I 1 0.068493151 ENSG00000139263 chr12:58878890-58878890;C/T missense_variant False LRIT1@p.G314D 1 0.153846154 ENSG00000148602 chr10:84232858-84232858;C/T missense_variant False LRIT1@p.G324E 1 0.534482759 ENSG00000148602 chr10:84232828-84232828;C/T missense_variant False LRIT1@p.L489F 1 0.473684211 ENSG00000148602 chr10:84232332-84232332;C/A missense_variant False LRIF1@p.E613Vfs*14 1 0.129032258 ENSG00000121931 chr1:110949881-110949882;CT/- frameshift_variant False LRGUK@p.T659Hfs*19 1 0.181818182 ENSG00000155530 chr7:134221904-134221904;A/- frameshift_variant False LRIT1@p.R555C 1 0.404494382 ENSG00000148602 chr10:84232136-84232136;G/A missense_variant False LRFN4@p.G543E 1 0.352941176 ENSG00000173621 chr11:66859915-66859915;G/A missense_variant False LRFN5@p.L128F 1 0.322916667 ENSG00000165379 chr14:41887009-41887009;G/C missense_variant False LRFN5@p.K69N 1 0.333333333 ENSG00000165379 chr14:41886832-41886832;A/C missense_variant False LRFN5@p.K565R 1 0.236842105 ENSG00000165379 chr14:41891558-41891558;A/G missense_variant False LRFN5@p.E389Q 1 0.276315789 ENSG00000165379 chr14:41887790-41887790;G/C missense_variant False LRFN5@p.E295Q 1 0.5 ENSG00000165379 chr14:41887508-41887508;G/C missense_variant False LRFN5@p.E281Q 1 0.297297297 ENSG00000165379 chr14:41887466-41887466;G/C missense_variant False LRFN4@p.A544Pfs*80 1 0.236111111 ENSG00000173621 chr11:66859912-66859912;G/- frameshift_variant False LRGUK@p.F189L 1 0.20212766 ENSG00000155530 chr7:134143141-134143141;C/G missense_variant False LRFN3@p.R401Q 1 0.196969697 ENSG00000126243 chr19:35940627-35940627;G/A missense_variant False LRFN3@p.R344C 1 0.181818182 ENSG00000126243 chr19:35940455-35940455;C/T missense_variant False LRFN3@p.R215H 1 0.463022508 ENSG00000126243 chr19:35940069-35940069;G/A missense_variant False LRFN3@p.R208W 1 0.214689266 ENSG00000126243 chr19:35940047-35940047;C/T missense_variant False LRFN3@p.R110C 1 0.181818182 ENSG00000126243 chr19:35939753-35939753;C/T missense_variant False LRFN2@p.T753M 1 0.511627907 ENSG00000156564 chr6:40392055-40392055;G/A missense_variant False LRFN5@p.L33V 1 0.14893617 ENSG00000165379 chr14:41886722-41886722;C/G missense_variant False LRFN5@p.P163S 1 0.56 ENSG00000165379 chr14:41887112-41887112;C/T missense_variant False LRFN5@p.P287S 1 0.2 ENSG00000165379 chr14:41887484-41887484;C/T missense_variant False LRFN5@p.R199Q 1 0.125 ENSG00000165379 chr14:41887221-41887221;G/A missense_variant False LRFN5@p.R52S 1 0.074074074 ENSG00000165379 chr14:41886781-41886781;A/T missense_variant False LRFN5@p.S618L 1 0.479166667 ENSG00000165379 chr14:41891717-41891717;C/T missense_variant False LRFN5@p.T262N 1 0.32885906 ENSG00000165379 chr14:41887410-41887410;C/A missense_variant False LRFN5@p.V663A 1 0.285714286 ENSG00000165379 chr14:41891852-41891852;T/C missense_variant False LRG1@p.E201D 1 0.266159696 ENSG00000171236 chr19:4538381-4538381;C/G missense_variant False LRG1@p.N174S 1 0.059259259 ENSG00000171236 chr19:4538463-4538463;T/C missense_variant False LRG1@p.P180H 1 0.082781457 ENSG00000171236 chr19:4538445-4538445;G/T missense_variant False LRG1@p.P276R 1 0.304635762 ENSG00000171236 chr19:4538157-4538157;G/C missense_variant False LRGUK@p.E229K 1 0.463414634 ENSG00000155530 chr7:134158049-134158049;G/A missense_variant False LRGUK@p.E541K 1 0.306358382 ENSG00000155530 chr7:134199295-134199295;G/A missense_variant False LRGUK@p.E541Q 1 0.373417722 ENSG00000155530 chr7:134199295-134199295;G/C missense_variant False LRGUK@p.E5Q 1 0.275641026 ENSG00000155530 chr7:134127380-134127380;G/C missense_variant False LRGUK@p.E88K 1 0.369047619 ENSG00000155530 chr7:134127629-134127629;G/A missense_variant False LRIT1@p.R422Q 1 0.201219512 ENSG00000148602 chr10:84232534-84232534;C/T missense_variant False LRIT1@p.T61I 1 0.826086957 ENSG00000148602 chr10:84237627-84237627;G/A missense_variant False LRP1B@p.E3112K 1 0.642105263 ENSG00000168702 chr2:140485434-140485434;C/T missense_variant False LRP1@p.R2662W 1 0.827586207 ENSG00000123384 chr12:57194419-57194419;C/T missense_variant False LRP1@p.S4423F 1 0.25 ENSG00000123384 chr12:57211936-57211936;C/T missense_variant False LRP1@p.S2683N 1 0.243835616 ENSG00000123384 chr12:57194483-57194483;G/A missense_variant False LRP1@p.S2193L 1 0.434782609 ENSG00000123384 chr12:57185645-57185645;C/T missense_variant False LRP1@p.S1919F 1 0.146341463 ENSG00000123384 chr12:57183472-57183472;C/T missense_variant False LRP1@p.R793Q 1 0.071428571 ENSG00000123384 chr12:57162492-57162492;G/A missense_variant False LRP1@p.R3591L 1 0.15 ENSG00000123384 chr12:57203241-57203241;G/T missense_variant False LRP1@p.Q356H 1 0.263157895 ENSG00000123384 chr12:57154542-57154542;G/T missense_variant False LRP1@p.E50K 1 0.4375 ENSG00000123384 chr12:57138539-57138539;G/A missense_variant False LRP1@p.Q1590H 1 0.269230769 ENSG00000123384 chr12:57179360-57179360;G/C missense_variant False LRP1@p.P2249S 1 0.514285714 ENSG00000123384 chr12:57185812-57185812;C/T missense_variant False LRP1@p.N3762S 1 0.158730159 ENSG00000123384 chr12:57205199-57205199;A/G missense_variant False LRP1@p.N2486S 1 0.232758621 ENSG00000123384 chr12:57192872-57192872;A/G missense_variant False LRP1@p.I464V 1 0.16 ENSG00000123384 chr12:57156256-57156256;A/G missense_variant False LRP1@p.I2538M 1 0.2 ENSG00000123384 chr12:57193234-57193234;C/G missense_variant False LRP1@p.S508C 1 0.285714286 ENSG00000123384 chr12:57156882-57156882;C/G missense_variant False LRP1@p.S970L 1 0.139240506 ENSG00000123384 chr12:57167041-57167041;C/T missense_variant False LRP1@p.W1758L 1 0.423676012 ENSG00000123384 chr12:57180366-57180366;G/T missense_variant False LRP1@p.W2876R 1 0.393442623 ENSG00000123384 chr12:57195928-57195928;T/C missense_variant False LRP1B@p.A3246E 1 0.112359551 ENSG00000168702 chr2:140457540-140457540;G/T missense_variant False LRP1B@p.A4599T 1 0.625 ENSG00000168702 chr2:140233191-140233191;C/T missense_variant False LRP1B@p.D1343N 1 0.109375 ENSG00000168702 chr2:140883959-140883959;C/T missense_variant False LRP1B@p.D2326N 1 0.78 ENSG00000168702 chr2:140601463-140601463;C/T missense_variant False LRP1B@p.D2438H 1 0.210526316 ENSG00000168702 chr2:140541854-140541854;C/G missense_variant False LRP1B@p.D3105N 1 0.767857143 ENSG00000168702 chr2:140485455-140485455;C/T missense_variant False LRP1B@p.D3231N 1 0.469798658 ENSG00000168702 chr2:140457586-140457586;C/T missense_variant False LRP1B@p.D3260H 1 0.206896552 ENSG00000168702 chr2:140457499-140457499;C/G missense_variant False LRP1B@p.D3663N 1 0.530685921 ENSG00000168702 chr2:140370731-140370731;C/T missense_variant False LRP1B@p.D3747N 1 0.2 ENSG00000168702 chr2:140358839-140358839;C/T missense_variant False LRP1B@p.D546H 1 0.447619048 ENSG00000168702 chr2:141049139-141049139;C/G missense_variant False LRP1B@p.E145K 1 0.433962264 ENSG00000168702 chr2:141254552-141254552;C/T missense_variant False LRP1B@p.E2316Q 1 0.257142857 ENSG00000168702 chr2:140601493-140601493;C/G missense_variant False LRP1@p.F339L 1 0.516129032 ENSG00000123384 chr12:57154491-57154491;C/G missense_variant False LRP1@p.E2740Q 1 0.076023392 ENSG00000123384 chr12:57195011-57195011;G/C missense_variant False LRIT2@p.E461K 1 0.145833333 ENSG00000204033 chr10:84222192-84222192;C/T missense_variant False LRMDA@p.S146F 1 0.40625 ENSG00000148655 chr10:76324405-76324405;C/T missense_variant False LRP10@p.R659Q 1 0.161764706 ENSG00000197324 chr14:22877361-22877361;G/A missense_variant False LRP10@p.Q43H 1 0.314606742 ENSG00000197324 chr14:22873360-22873360;G/C missense_variant False LRP10@p.G340S 1 0.354166667 ENSG00000197324 chr14:22875966-22875966;G/A missense_variant False LRP10@p.E707K 1 0.466666667 ENSG00000197324 chr14:22877504-22877504;G/A missense_variant False LRP10@p.D346N 1 0.169811321 ENSG00000197324 chr14:22875984-22875984;G/A missense_variant False LRP10@p.D177H 1 0.594202899 ENSG00000197324 chr14:22875477-22875477;G/C missense_variant False LRIT3@p.S417F 1 0.106382979 ENSG00000183423 chr4:109869999-109869999;C/T missense_variant False LRP1@p.E2430K 1 0.583333333 ENSG00000123384 chr12:57191371-57191371;G/A missense_variant False LRIT3@p.S384L 1 0.314285714 ENSG00000183423 chr4:109869900-109869900;C/T missense_variant False LRIT3@p.P634S 1 0.302325581 ENSG00000183423 chr4:109870649-109870649;C/T missense_variant False LRIT3@p.P254L 1 0.441860465 ENSG00000183423 chr4:109867812-109867812;C/T missense_variant False LRIT3@p.E488Q 1 0.310810811 ENSG00000183423 chr4:109870211-109870211;G/C missense_variant False LRIT2@p.K58T 1 0.201219512 ENSG00000204033 chr10:84225052-84225052;T/G missense_variant False LRIT2@p.G233R 1 0.328571429 ENSG00000204033 chr10:84224528-84224528;C/G missense_variant False LRP12@p.C395Y 1 0.066666667 ENSG00000147650 chr8:104497368-104497368;C/T missense_variant False LRP12@p.D307N 1 0.191780822 ENSG00000147650 chr8:104497633-104497633;C/T missense_variant False LRP12@p.D797N 1 0.205714286 ENSG00000147650 chr8:104490864-104490864;C/T missense_variant False LRP12@p.E162K 1 0.338983051 ENSG00000147650 chr8:104498068-104498068;C/T missense_variant False LRP12@p.E9Q 1 0.4 ENSG00000147650 chr8:104588873-104588873;C/G missense_variant False LRP12@p.N434S 1 0.156716418 ENSG00000147650 chr8:104497251-104497251;T/C missense_variant False LRP12@p.R120K 1 0.053435115 ENSG00000147650 chr8:104499433-104499433;C/T missense_variant False LRP12@p.R598K 1 0.144736842 ENSG00000147650 chr8:104491460-104491460;C/T missense_variant False LRP12@p.V628I 1 0.166666667 ENSG00000147650 chr8:104491371-104491371;C/T missense_variant False LRP12@p.V788L 1 0.102564103 ENSG00000147650 chr8:104490891-104490891;C/A missense_variant False LRP1@p.C1563F 1 0.422794118 ENSG00000123384 chr12:57178971-57178971;G/T missense_variant False LRP1@p.D3515E 1 0.187234043 ENSG00000123384 chr12:57201856-57201856;C/A missense_variant False LRP1@p.D3525H 1 0.208333333 ENSG00000123384 chr12:57201884-57201884;G/C missense_variant False LRP1@p.D363N 1 0.547619048 ENSG00000123384 chr12:57154561-57154561;G/A missense_variant False LRP1@p.D878H 1 0.113402062 ENSG00000123384 chr12:57165906-57165906;G/C missense_variant False LRP1@p.E1702Q 1 0.230215827 ENSG00000123384 chr12:57179919-57179919;G/C missense_variant False LRP1@p.E1838A 1 0.133333333 ENSG00000123384 chr12:57180793-57180793;A/C missense_variant False LRRC25@p.L137P 1 0.08 ENSG00000175489 chr19:18396554-18396554;A/G missense_variant False LRRC28@p.E241D 1 0.263157895 ENSG00000168904 chr15:99361363-99361363;G/T missense_variant False LGALS4@p.S302L 1 0.119266055 ENSG00000171747 chr19:38801831-38801831;G/A missense_variant False LRRCC1@p.Q1029E 1 0.202247191 ENSG00000133739 chr8:85145497-85145497;C/G missense_variant False LRRCC1@p.R481K 1 0.171428571 ENSG00000133739 chr8:85129195-85129195;G/A missense_variant False LRRCC1@p.R349Q 1 0.303571429 ENSG00000133739 chr8:85123528-85123528;G/A missense_variant False LRRCC1@p.R340K 1 0.110132159 ENSG00000133739 chr8:85123501-85123501;G/A missense_variant False LRRCC1@p.R146C 1 0.359375 ENSG00000133739 chr8:85112991-85112991;C/T missense_variant False LRRCC1@p.Q537K 1 0.233766234 ENSG00000133739 chr8:85129362-85129362;C/A missense_variant False LRRCC1@p.Q534K 1 0.262711864 ENSG00000133739 chr8:85129353-85129353;C/A missense_variant False LRRCC1@p.L50F 1 0.086956522 ENSG00000133739 chr8:85109638-85109638;C/T missense_variant False LRRFIP1@p.E512K 1 0.375 ENSG00000124831 chr2:237772105-237772105;G/A missense_variant False LRRCC1@p.L258S 1 0.346938776 ENSG00000133739 chr8:85115427-85115427;T/C missense_variant False LRRCC1@p.H131Y 1 0.058823529 ENSG00000133739 chr8:85112946-85112946;C/T missense_variant False LRRCC1@p.E944Q 1 0.41025641 ENSG00000133739 chr8:85138465-85138465;G/C missense_variant False LRRCC1@p.E894Q 1 0.388888889 ENSG00000133739 chr8:85138221-85138221;G/C missense_variant False LRRCC1@p.E765Q 1 0.368421053 ENSG00000133739 chr8:85135927-85135927;G/C missense_variant False LRRCC1@p.E619K 1 0.255813953 ENSG00000133739 chr8:85131848-85131848;G/A missense_variant False LRRCC1@p.S215L 1 0.074626866 ENSG00000133739 chr8:85115199-85115199;C/T missense_variant False LRRFIP1@p.E614Q 1 0.451612903 ENSG00000124831 chr2:237779449-237779449;G/C missense_variant False LRRC28@p.R201Q 1 0.105633803 ENSG00000168904 chr15:99352378-99352378;G/A missense_variant False LRRIQ1@p.D79N 1 0.154929577 ENSG00000133640 chr12:85040592-85040592;G/A missense_variant False LRRIQ1@p.E589Q 1 0.285714286 ENSG00000133640 chr12:85056558-85056558;G/C missense_variant False LRRIQ1@p.E500K 1 0.240740741 ENSG00000133640 chr12:85056291-85056291;G/A missense_variant False LRRIQ1@p.E245D 1 0.310810811 ENSG00000133640 chr12:85052233-85052233;G/T missense_variant False LRRIQ1@p.E1430Q 1 0.327586207 ENSG00000133640 chr12:85137928-85137928;G/C missense_variant False LRRIQ1@p.E118Q 1 0.272727273 ENSG00000133640 chr12:85046035-85046035;G/C missense_variant False LRRIQ1@p.D989N 1 0.285714286 ENSG00000133640 chr12:85098432-85098432;G/A missense_variant False LRRIQ1@p.D507N 1 0.420454545 ENSG00000133640 chr12:85056312-85056312;G/A missense_variant False LRRFIP2@p.E98K 1 0.366666667 ENSG00000093167 chr3:37121530-37121530;C/T missense_variant False LRRIQ1@p.D1442H 1 0.169491525 ENSG00000133640 chr12:85137964-85137964;G/C missense_variant False LRRFIP2@p.S221C 1 0.142857143 ENSG00000093167 chr3:37108125-37108125;G/C missense_variant False LRRFIP2@p.S195F 1 0.390625 ENSG00000093167 chr3:37109552-37109552;G/A missense_variant False LRRFIP2@p.Q552E 1 0.256198347 ENSG00000093167 chr3:37065855-37065855;G/C missense_variant False LRRFIP2@p.Q388H 1 0.214285714 ENSG00000093167 chr3:37083750-37083750;C/A missense_variant False LRRFIP2@p.N613K 1 0.470588235 ENSG00000093167 chr3:37058821-37058821;A/T missense_variant False LRRCC1@p.E107K 1 0.151515152 ENSG00000133739 chr8:85110123-85110123;G/A missense_variant False LRRCC1@p.D301H 1 0.578947368 ENSG00000133739 chr8:85115555-85115555;G/C missense_variant False LRRC8E@p.T133Gfs*52 1 0.38028169 ENSG00000171017 chr19:7898918-7898927;CACCAGTTTC/- frameshift_variant False LRRC7@p.N393D 1 0.278145695 ENSG00000033122 chr1:70013016-70013016;A/G missense_variant False LRRC7@p.T1047S 1 0.148148148 ENSG00000033122 chr1:70038963-70038963;A/T missense_variant False LRRC7@p.R838K 1 0.058252427 ENSG00000033122 chr1:70038337-70038337;G/A missense_variant False LRRC7@p.Q550H 1 0.337078652 ENSG00000033122 chr1:70023230-70023230;G/T missense_variant False LRRC7@p.Q1356H 1 0.193548387 ENSG00000033122 chr1:70044052-70044052;G/C missense_variant False LRRC7@p.P858S 1 0.322222222 ENSG00000033122 chr1:70038396-70038396;C/T missense_variant False LRRC7@p.N805T 1 0.302904564 ENSG00000033122 chr1:70038238-70038238;A/C missense_variant False LRRC7@p.F423L 1 0.08490566 ENSG00000033122 chr1:70016483-70016483;C/A missense_variant False LRRC8E@p.R571G 1 0.268292683 ENSG00000171017 chr19:7900233-7900233;C/G missense_variant False LRRC7@p.E911K 1 0.35483871 ENSG00000033122 chr1:70038555-70038555;G/A missense_variant False LRRC7@p.E524K 1 0.2 ENSG00000033122 chr1:70023150-70023150;G/A missense_variant False LRRC7@p.E1083K 1 0.260869565 ENSG00000033122 chr1:70039071-70039071;G/A missense_variant False LRRC7@p.E1079K 1 0.209677419 ENSG00000033122 chr1:70039059-70039059;G/A missense_variant False LRRC7@p.D507N 1 0.304347826 ENSG00000033122 chr1:70021103-70021103;G/A missense_variant False LRRC7@p.D1179N 1 0.262820513 ENSG00000033122 chr1:70039359-70039359;G/A missense_variant False LRRC7@p.T580N 1 0.189873418 ENSG00000033122 chr1:70023319-70023319;C/A missense_variant False LRRC7@p.V930I 1 0.380597015 ENSG00000033122 chr1:70038612-70038612;G/A missense_variant False LRRC8A@p.S609F 1 0.433333333 ENSG00000136802 chr9:128908990-128908990;C/T missense_variant False LRRC8A@p.V561M 1 0.309090909 ENSG00000136802 chr9:128908845-128908845;G/A missense_variant False LRRC8B@p.E408Q 1 0.196581197 ENSG00000197147 chr1:89583872-89583872;G/C missense_variant False LRRC8B@p.I311M 1 0.066666667 ENSG00000197147 chr1:89583583-89583583;C/G missense_variant False LRRC8B@p.I93N 1 0.145454545 ENSG00000197147 chr1:89582928-89582928;T/A missense_variant False LRRC8B@p.N735Ifs*3 1 0.355371901 ENSG00000197147 chr1:89592827-89592827;G/- frameshift_variant False LRRC8B@p.R469C 1 0.451612903 ENSG00000197147 chr1:89584055-89584055;C/T missense_variant False LRRC8B@p.S170L 1 0.173076923 ENSG00000197147 chr1:89583159-89583159;C/T missense_variant False LRRC8C@p.D412H 1 0.08 ENSG00000171488 chr1:89713804-89713804;G/C missense_variant False LRRC8C@p.D600H 1 0.1625 ENSG00000171488 chr1:89714368-89714368;G/C missense_variant False LRRC8C@p.D723A 1 0.197183099 ENSG00000171488 chr1:89714738-89714738;A/C missense_variant False LRRC8C@p.N739Tfs*19 1 0.111111111 ENSG00000171488 chr1:89714781-89714781;A/- frameshift_variant False LRRC8C@p.S66C 1 0.229166667 ENSG00000171488 chr1:89712767-89712767;C/G missense_variant False LRRC8D@p.E747Q 1 0.204081633 ENSG00000171492 chr1:89935307-89935307;G/C missense_variant False LRRC8D@p.R389G 1 0.461538462 ENSG00000171492 chr1:89934233-89934233;A/G missense_variant False LRRIQ1@p.E668K 1 0.4 ENSG00000133640 chr12:85056795-85056795;G/A missense_variant False LRRIQ1@p.E76K 1 0.312 ENSG00000133640 chr12:85040583-85040583;G/A missense_variant False LRRIQ1@p.E858K 1 0.063492063 ENSG00000133640 chr12:85066775-85066775;G/A missense_variant False LRRK2@p.M1057I 1 0.185185185 ENSG00000188906 chr12:40298317-40298317;G/C missense_variant False LRRK2@p.Q923E 1 0.384615385 ENSG00000188906 chr12:40293622-40293622;C/G missense_variant False LRRK2@p.Q847E 1 0.133333333 ENSG00000188906 chr12:40287389-40287389;C/G missense_variant False LRRK2@p.Q2333H 1 0.206896552 ENSG00000188906 chr12:40359415-40359415;G/C missense_variant False LRRK2@p.P1793S 1 0.253012048 ENSG00000188906 chr12:40322378-40322378;C/T missense_variant False LRRK2@p.P1298S 1 0.324324324 ENSG00000188906 chr12:40305899-40305899;C/T missense_variant False LRRK2@p.M679I 1 0.237288136 ENSG00000188906 chr12:40277983-40277983;G/T missense_variant False LRRK2@p.K906N 1 0.571428571 ENSG00000188906 chr12:40293573-40293573;G/C missense_variant False LRRK2@p.G440R 1 0.120689655 ENSG00000188906 chr12:40257277-40257277;G/A missense_variant False LRRK2@p.K709N 1 0.488888889 ENSG00000188906 chr12:40278147-40278147;A/C missense_variant False LRRK2@p.K529R 1 0.075757576 ENSG00000188906 chr12:40263831-40263831;A/G missense_variant False LRRK2@p.K1906Rfs*12 1 0.220930233 ENSG00000188906 chr12:40328419-40328419;A/- frameshift_variant False LRRK2@p.I1318M 1 0.096153846 ENSG00000188906 chr12:40305961-40305961;C/G missense_variant False LRRK2@p.I1311T 1 0.452380952 ENSG00000188906 chr12:40305939-40305939;T/C missense_variant False LRRK2@p.I1060V 1 0.46835443 ENSG00000188906 chr12:40298324-40298324;A/G missense_variant False LRRK2@p.R1161T 1 0.204188482 ENSG00000188906 chr12:40299243-40299243;G/C missense_variant False LRRK2@p.R1731T 1 0.385542169 ENSG00000188906 chr12:40322056-40322056;G/C missense_variant False LRRK2@p.R2446H 1 0.375 ENSG00000188906 chr12:40364997-40364997;G/A missense_variant False LRRK2@p.R265K 1 0.138211382 ENSG00000188906 chr12:40243637-40243637;G/A missense_variant False LRRK2@p.S1721L 1 0.282608696 ENSG00000188906 chr12:40321180-40321180;C/T missense_variant False LRRK2@p.V67I 1 0.333333333 ENSG00000188906 chr12:40225602-40225602;G/A missense_variant False LRRK2@p.W359R 1 0.152173913 ENSG00000188906 chr12:40251348-40251348;T/C missense_variant False LRRN1@p.A646V 1 0.107692308 ENSG00000175928 chr3:3846578-3846578;C/T missense_variant False LRRN1@p.C32Y 1 0.289719626 ENSG00000175928 chr3:3844736-3844736;G/A missense_variant False LRRN1@p.L414I 1 0.305555556 ENSG00000175928 chr3:3845881-3845881;T/A missense_variant False LRRN1@p.M550I 1 0.197278912 ENSG00000175928 chr3:3846291-3846291;G/C missense_variant False LRRN1@p.R51K 1 0.281690141 ENSG00000175928 chr3:3844793-3844793;G/A missense_variant False LRRN1@p.S427C 1 0.441860465 ENSG00000175928 chr3:3845921-3845921;C/G missense_variant False LRRN1@p.T387I 1 0.417475728 ENSG00000175928 chr3:3845801-3845801;C/T missense_variant False LRRN2@p.E491K 1 0.25 ENSG00000170382 chr1:204618522-204618522;C/T missense_variant False LRRN2@p.E701K 1 0.180327869 ENSG00000170382 chr1:204617892-204617892;C/T missense_variant False LRRN3@p.E288Q 1 0.076923077 ENSG00000173114 chr7:111123634-111123634;G/C missense_variant False LRRK2@p.H115Y 1 0.35 ENSG00000188906 chr12:40232379-40232379;C/T missense_variant False LRRK2@p.E2230K 1 0.25 ENSG00000188906 chr12:40354410-40354410;G/A missense_variant False LRRIQ1@p.K1224R 1 0.273809524 ENSG00000133640 chr12:85124183-85124183;A/G missense_variant False LRRIQ3@p.I250V 1 0.180327869 ENSG00000162620 chr1:74109513-74109513;T/C missense_variant False LRRIQ4@p.R84S 1 0.109589041 ENSG00000188306 chr3:169822173-169822173;G/T missense_variant False LRRIQ3@p.Y195F 1 0.0625 ENSG00000162620 chr1:74155856-74155856;T/A missense_variant False LRRIQ3@p.V552F 1 0.402597403 ENSG00000162620 chr1:74041277-74041277;C/A missense_variant False LRRIQ3@p.T63A 1 0.5 ENSG00000162620 chr1:74183498-74183498;T/C missense_variant False LRRIQ3@p.R418Q 1 0.302325581 ENSG00000162620 chr1:74041678-74041678;C/T missense_variant False LRRIQ3@p.K396I 1 0.149425287 ENSG00000162620 chr1:74041744-74041744;T/A missense_variant False LRRIQ3@p.E372D 1 0.231884058 ENSG00000162620 chr1:74041815-74041815;C/A missense_variant False LRRK2@p.E189K 1 0.102564103 ENSG00000188906 chr12:40238097-40238097;G/A missense_variant False LRRIQ1@p.Y736F 1 0.221311475 ENSG00000133640 chr12:85057000-85057000;A/T missense_variant False LRRIQ1@p.S1489C 1 0.366834171 ENSG00000133640 chr12:85153069-85153069;A/T missense_variant False LRRIQ1@p.R1601T 1 0.155172414 ENSG00000133640 chr12:85160694-85160694;G/C missense_variant False LRRIQ1@p.M93I 1 0.227272727 ENSG00000133640 chr12:85044752-85044752;G/A missense_variant False LRRIQ1@p.M145V 1 0.319148936 ENSG00000133640 chr12:85046116-85046116;A/G missense_variant False LRRIQ1@p.L1207P 1 0.120689655 ENSG00000133640 chr12:85124132-85124132;T/C missense_variant False LRRK1@p.E1152K 1 0.260869565 ENSG00000154237 chr15:101051725-101051725;G/A missense_variant False LRRK1@p.E1684K 1 0.542168675 ENSG00000154237 chr15:101065487-101065487;G/A missense_variant False LRRK1@p.E1744Q 1 0.2625 ENSG00000154237 chr15:101065667-101065667;G/C missense_variant False LRRK1@p.E370Q 1 0.378787879 ENSG00000154237 chr15:101010568-101010568;G/C missense_variant False LRRK1@p.K1110N 1 0.352941176 ENSG00000154237 chr15:101049674-101049674;G/T missense_variant False LRRK1@p.L392F 1 0.46031746 ENSG00000154237 chr15:101010732-101010732;G/C missense_variant False LRRK1@p.M1116I 1 0.06097561 ENSG00000154237 chr15:101049692-101049692;G/A missense_variant False LRRK1@p.M1582I 1 0.263157895 ENSG00000154237 chr15:101061237-101061237;G/A missense_variant False LRRK1@p.Q629E 1 0.323529412 ENSG00000154237 chr15:101022415-101022415;C/G missense_variant False LRRK1@p.R1058K 1 0.194244604 ENSG00000154237 chr15:101048531-101048531;G/A missense_variant False LRRK1@p.R861C 1 0.444444444 ENSG00000154237 chr15:101027692-101027692;C/T missense_variant False LRRK1@p.Y1730H 1 0.355555556 ENSG00000154237 chr15:101065625-101065625;T/C missense_variant False LRRK2@p.C2114Y 1 0.241935484 ENSG00000188906 chr12:40348469-40348469;G/A missense_variant False LRRK2@p.D2196H 1 0.179487179 ENSG00000188906 chr12:40354308-40354308;G/C missense_variant False LRRK2@p.D2269N 1 0.269230769 ENSG00000188906 chr12:40356149-40356149;G/A missense_variant False LRRK2@p.D2388N 1 0.236842105 ENSG00000188906 chr12:40363535-40363535;G/A missense_variant False LRRK2@p.E1714Q 1 0.333333333 ENSG00000188906 chr12:40321158-40321158;G/C missense_variant False LRRC7@p.D1043Y 1 0.243902439 ENSG00000033122 chr1:70038951-70038951;G/T missense_variant False LRRC7@p.A585T 1 0.298245614 ENSG00000033122 chr1:70023333-70023333;G/A missense_variant False LRRC74A@p.V98A 1 0.409090909 ENSG00000100565 chr14:76831278-76831278;T/C missense_variant False LRRC37A3@p.S738C 1 0.13559322 ENSG00000176809 chr17:64895045-64895045;G/C missense_variant False LRRC37B@p.P370Q 1 0.046728972 ENSG00000185158 chr17:32022255-32022255;C/A missense_variant False LRRC37B@p.L661F 1 0.375 ENSG00000185158 chr17:32034914-32034914;C/T missense_variant False LRRC37B@p.E428Q 1 0.263736264 ENSG00000185158 chr17:32022428-32022428;G/C missense_variant False LRRC37B@p.E368K 1 0.40952381 ENSG00000185158 chr17:32022248-32022248;G/A missense_variant False LRRC37B@p.E263Q 1 0.082474227 ENSG00000185158 chr17:32021933-32021933;G/C missense_variant False LRRC37A3@p.T1117N 1 0.0375 ENSG00000176809 chr17:64860796-64860796;G/T missense_variant False LRRC37A3@p.S1062F 1 0.211678832 ENSG00000176809 chr17:64860961-64860961;G/A missense_variant False LRRC37A3@p.D1094H 1 0.586021505 ENSG00000176809 chr17:64860866-64860866;C/G missense_variant False LRRC37A3@p.R1306P 1 0.262458472 ENSG00000176809 chr17:64860229-64860229;C/G missense_variant False LRRC37A3@p.L984V 1 0.237837838 ENSG00000176809 chr17:64869123-64869123;G/C missense_variant False LRRC37A3@p.L220V 1 0.187165775 ENSG00000176809 chr17:64896600-64896600;G/C missense_variant False LRRC37A3@p.I357M 1 0.077051926 ENSG00000176809 chr17:64896187-64896187;G/C missense_variant False LRRC37A3@p.E743Q 1 0.175675676 ENSG00000176809 chr17:64895031-64895031;C/G missense_variant False LRRC37A3@p.E381K 1 0.339160839 ENSG00000176809 chr17:64896117-64896117;C/T missense_variant False LRRC37B@p.Q259E 1 0.32038835 ENSG00000185158 chr17:32021921-32021921;C/G missense_variant False LRRC37B@p.R543C 1 0.088709677 ENSG00000185158 chr17:32022773-32022773;C/T missense_variant False LRRC37B@p.S278C 1 0.048192771 ENSG00000185158 chr17:32021979-32021979;C/G missense_variant False LRRC37B@p.S484R 1 0.118320611 ENSG00000185158 chr17:32022598-32022598;C/A missense_variant False LRRC39@p.R104K 1 0.329268293 ENSG00000122477 chr1:100159324-100159324;C/T missense_variant False LRRC3@p.A47T 1 0.142857143 ENSG00000160233 chr21:44456783-44456783;G/A missense_variant False LRRC3@p.G113R 1 0.134615385 ENSG00000160233 chr21:44456981-44456981;G/A missense_variant False LRRC3@p.S121C 1 0.258064516 ENSG00000160233 chr21:44457006-44457006;C/G missense_variant False LRRC3@p.S249F 1 0.341772152 ENSG00000160233 chr21:44457390-44457390;C/T missense_variant False LRRC3B@p.P35H 1 0.08 ENSG00000179796 chr3:26709776-26709776;C/A missense_variant False LRRC40@p.E208K 1 0.204545455 ENSG00000066557 chr1:70181125-70181125;C/T missense_variant False LRRC40@p.M586I 1 0.482142857 ENSG00000066557 chr1:70145851-70145851;C/G missense_variant False LRRC40@p.P580S 1 0.12 ENSG00000066557 chr1:70145871-70145871;G/A missense_variant False LRRC41@p.A627T 1 0.104477612 ENSG00000132128 chr1:46280438-46280438;C/T missense_variant False LRRC41@p.D631N 1 0.153284672 ENSG00000132128 chr1:46280426-46280426;C/T missense_variant False LRRC41@p.E728K 1 0.112903226 ENSG00000132128 chr1:46279219-46279219;C/T missense_variant False LRRC41@p.L495H 1 0.419354839 ENSG00000132128 chr1:46285373-46285373;A/T missense_variant False LRRC37A3@p.D1133Y 1 0.552 ENSG00000176809 chr17:64860749-64860749;C/A missense_variant False LRRC37A2@p.R1271K 1 0.104972376 ENSG00000260075 chr17:46548951-46548951;G/A missense_variant False LRRC41@p.L756M 1 0.162790698 ENSG00000132128 chr1:46279038-46279038;G/T missense_variant False LRRC31@p.D537H 1 0.282051282 ENSG00000114248 chr3:169840032-169840032;C/G missense_variant False LRRC31@p.S64L 1 0.09623431 ENSG00000114248 chr3:169861798-169861798;G/A missense_variant False LRRC31@p.R33I 1 0.0625 ENSG00000114248 chr3:169869710-169869710;C/A missense_variant False LRRC31@p.L189V 1 0.207142857 ENSG00000114248 chr3:169856795-169856795;G/C missense_variant False LRRC31@p.E532Q 1 0.634146341 ENSG00000114248 chr3:169840047-169840047;C/G missense_variant False LRRC31@p.E342Q 1 0.289256198 ENSG00000114248 chr3:169851754-169851754;C/G missense_variant False LRRC31@p.E31K 1 0.3 ENSG00000114248 chr3:169869717-169869717;C/T missense_variant False LRRC31@p.C474F 1 0.139784946 ENSG00000114248 chr3:169840220-169840220;C/A missense_variant False LRRC37A2@p.P78L 1 0.175 ENSG00000260075 chr17:46512945-46512945;C/T missense_variant False LRRC30@p.S71Y 1 0.232323232 ENSG00000206422 chr18:7231350-7231350;C/A missense_variant False LRRC2@p.S106F 1 0.086734694 ENSG00000163827 chr3:46545062-46545062;G/A missense_variant False LRRC2@p.L151V 1 0.429752066 ENSG00000163827 chr3:46539084-46539084;G/C missense_variant False LRRC2@p.L142V 1 0.402777778 ENSG00000163827 chr3:46539111-46539111;A/C missense_variant False LRRC2@p.K78N 1 0.197044335 ENSG00000163827 chr3:46545145-46545145;C/G missense_variant False LRRC2@p.E36Q 1 0.698924731 ENSG00000163827 chr3:46551486-46551486;C/G missense_variant False LRRC31@p.V183M 1 0.150793651 ENSG00000114248 chr3:169856813-169856813;C/T missense_variant False LRRC32@p.E176K 1 0.359375 ENSG00000137507 chr11:76661067-76661067;C/T missense_variant False LRRC32@p.E523D 1 0.392857143 ENSG00000137507 chr11:76660024-76660024;C/A missense_variant False LRRC32@p.S116G 1 0.42 ENSG00000137507 chr11:76661247-76661247;T/C missense_variant False LRRC34@p.D111N 1 0.522727273 ENSG00000171757 chr3:169807636-169807636;C/T missense_variant False LRRC34@p.D309A 1 0.434782609 ENSG00000171757 chr3:169796352-169796352;T/G missense_variant False LRRC36@p.D115N 1 0.485714286 ENSG00000159708 chr16:67346400-67346400;G/A missense_variant False LRRC36@p.E27Q 1 0.231707317 ENSG00000159708 chr16:67341965-67341965;G/C missense_variant False LRRC36@p.E417Q 1 0.063636364 ENSG00000159708 chr16:67370997-67370997;G/C missense_variant False LRRC36@p.G441V 1 0.327272727 ENSG00000159708 chr16:67371070-67371070;G/T missense_variant False LRRC36@p.H374R 1 0.102739726 ENSG00000159708 chr16:67367383-67367383;A/G missense_variant False LRRC36@p.L104F 1 0.174311927 ENSG00000159708 chr16:67346369-67346369;G/C missense_variant False LRRC36@p.S178C 1 0.069444444 ENSG00000159708 chr16:67350246-67350246;C/G missense_variant False LRRC36@p.S306L 1 0.045801527 ENSG00000159708 chr16:67367179-67367179;C/T missense_variant False LRRC36@p.S497T 1 0.285714286 ENSG00000159708 chr16:67371238-67371238;G/C missense_variant False LRRC36@p.V276A 1 0.576 ENSG00000159708 chr16:67367089-67367089;T/C missense_variant False LRRC37A2@p.K1320E 1 0.105960265 ENSG00000260075 chr17:46549097-46549097;A/G missense_variant False LRRC41@p.L737V 1 0.617021277 ENSG00000132128 chr1:46279192-46279192;G/C missense_variant False LRRC41@p.M111I 1 0.245098039 ENSG00000132128 chr1:46297587-46297587;C/T missense_variant False LRRC74A@p.S231C 1 0.321428571 ENSG00000100565 chr14:76844866-76844866;C/G missense_variant False LRRC57@p.L40F 1 0.201970443 ENSG00000180979 chr15:42548211-42548211;G/A missense_variant False LRRC66@p.H434R 1 0.130718954 ENSG00000188993 chr4:51995721-51995721;T/C missense_variant False LRRC66@p.G366D 1 0.142857143 ENSG00000188993 chr4:51995925-51995925;C/T missense_variant False LRRC66@p.E583Q 1 0.309677419 ENSG00000188993 chr4:51995275-51995275;C/G missense_variant False LRRC66@p.D782H 1 0.108108108 ENSG00000188993 chr4:51994678-51994678;C/G missense_variant False LRRC66@p.C696Y 1 0.144927536 ENSG00000188993 chr4:51994935-51994935;C/T missense_variant False LRRC59@p.L84V 1 0.238636364 ENSG00000108829 chr17:50392813-50392813;G/C missense_variant False LRRC57@p.E157K 1 0.378787879 ENSG00000180979 chr15:42547284-42547284;C/T missense_variant False LRRC4C@p.I536M 1 0.448979592 ENSG00000148948 chr11:40114685-40114685;G/C missense_variant False LRRC56@p.R69W 1 0.181818182 ENSG00000161328 chr11:541564-541564;C/T missense_variant False LRRC55@p.E243K 1 0.372670807 ENSG00000183908 chr11:57187310-57187310;G/A missense_variant False LRRC52@p.V271L 1 0.115384615 ENSG00000162763 chr1:165563693-165563693;G/C missense_variant False LRRC4C@p.T610del 1 0.214285714 ENSG00000148948 chr11:40114463-40114465;TGT/- inframe_deletion False LRRC4C@p.Q639E 1 0.689655172 ENSG00000148948 chr11:40114378-40114378;G/C missense_variant False LRRC4C@p.L290W 1 0.36416185 ENSG00000148948 chr11:40115424-40115424;A/C missense_variant False LRRC66@p.H563N 1 0.306010929 ENSG00000188993 chr4:51995335-51995335;G/T missense_variant False LRRC66@p.H79D 1 0.093023256 ENSG00000188993 chr4:52017379-52017379;G/C missense_variant False LRRC66@p.L75F 1 0.109589041 ENSG00000188993 chr4:52017391-52017391;G/A missense_variant False LRRC66@p.M591I 1 0.067010309 ENSG00000188993 chr4:51995249-51995249;C/T missense_variant False LRRC66@p.N94D 1 0.388349515 ENSG00000188993 chr4:52017334-52017334;T/C missense_variant False LRRC66@p.Q617H 1 0.238636364 ENSG00000188993 chr4:51995171-51995171;C/G missense_variant False LRRC66@p.R312H 1 0.442857143 ENSG00000188993 chr4:51996087-51996087;C/T missense_variant False LRRC66@p.W273G 1 0.444444444 ENSG00000188993 chr4:51997787-51997787;A/C missense_variant False LRRC6@p.D94G 1 0.288135593 None chr8:132638083-132638083;T/C missense_variant False LRRC6@p.H423Q 1 0.033195021 None chr8:132572438-132572438;G/T missense_variant False LRRC6@p.I169M 1 0.855855856 None chr8:132632886-132632886;G/C missense_variant False LRRC6@p.K281R 1 0.069444444 None chr8:132622683-132622683;T/C missense_variant False LRRC6@p.M268K 1 0.479166667 None chr8:132625305-132625305;A/T missense_variant False LRRC71@p.H289Y 1 0.142857143 ENSG00000160838 chr1:156927775-156927775;C/T missense_variant False LRRC71@p.S256L 1 0.571428571 ENSG00000160838 chr1:156927600-156927600;C/T missense_variant False LRRC73@p.D207N 1 0.159090909 ENSG00000204052 chr6:43507864-43507864;C/T missense_variant False LRRC74A@p.G382A 1 0.153846154 ENSG00000100565 chr14:76860733-76860733;G/C missense_variant False LRRC4C@p.L129V 1 0.294117647 ENSG00000148948 chr11:40115908-40115908;G/C missense_variant False LRRC4C@p.E223K 1 0.483516484 ENSG00000148948 chr11:40115626-40115626;C/T missense_variant False LRRC41@p.R356W 1 0.096385542 ENSG00000132128 chr1:46285791-46285791;G/A missense_variant False LRRC43@p.E289K 1 0.15 ENSG00000158113 chr12:122190332-122190332;G/A missense_variant False LRRC45@p.I488M 1 0.25 ENSG00000169683 chr17:82029605-82029605;C/G missense_variant False LRRC45@p.E635K 1 0.384615385 ENSG00000169683 chr17:82030695-82030695;G/A missense_variant False LRRC45@p.E633K 1 0.727272727 ENSG00000169683 chr17:82030689-82030689;G/A missense_variant False LRRC43@p.S418W 1 0.307692308 ENSG00000158113 chr12:122192908-122192908;C/G missense_variant False LRRC43@p.R69K 1 0.217391304 ENSG00000158113 chr12:122184574-122184574;G/A missense_variant False LRRC43@p.I623M 1 0.18 ENSG00000158113 chr12:122203340-122203340;C/G missense_variant False LRRC43@p.E289D 1 0.160493827 ENSG00000158113 chr12:122190334-122190334;G/T missense_variant False LRRC4C@p.D72N 1 0.346666667 ENSG00000148948 chr11:40116079-40116079;C/T missense_variant False LRRC43@p.E163K 1 0.166666667 ENSG00000158113 chr12:122186265-122186265;G/A missense_variant False LRRC43@p.A29T 1 0.384615385 ENSG00000158113 chr12:122183229-122183229;G/A missense_variant False LRRC42@p.R78L 1 0.22556391 ENSG00000116212 chr1:53952232-53952232;G/T missense_variant False LRRC41@p.S368C 1 0.115107914 ENSG00000132128 chr1:46285754-46285754;G/C missense_variant False LRRC41@p.S134Pfs*116 1 0.093023256 ENSG00000132128 chr1:46286457-46286457;A/- frameshift_variant False LRRC41@p.R556C 1 0.333333333 ENSG00000132128 chr1:46281215-46281215;G/A missense_variant False LRRC45@p.R283C 1 0.161290323 ENSG00000169683 chr17:82027687-82027687;C/T missense_variant False LRRC46@p.E12K 1 0.092920354 ENSG00000141294 chr17:47832123-47832123;G/A missense_variant False LRRC46@p.P282S 1 0.436842105 ENSG00000141294 chr17:47836998-47836998;C/T missense_variant False LRRC47@p.D443A 1 0.066666667 ENSG00000130764 chr1:3782746-3782746;T/G missense_variant False LRRC47@p.P567S 1 0.28125 ENSG00000130764 chr1:3781141-3781141;G/A missense_variant False LRRC49@p.D663N 1 0.495049505 ENSG00000137821 chr15:71049538-71049538;G/A missense_variant False LRRC49@p.E194K 1 0.247706422 ENSG00000137821 chr15:70919062-70919062;G/A missense_variant False LRRC49@p.E667Q 1 0.317073171 ENSG00000137821 chr15:71049550-71049550;G/C missense_variant False LRRC49@p.S272L 1 0.272727273 ENSG00000137821 chr15:70963826-70963826;C/T missense_variant False LRRC49@p.T509A 1 0.155555556 ENSG00000137821 chr15:71009924-71009924;A/G missense_variant False LRRC4@p.P378H 1 0.113636364 ENSG00000128594 chr7:128029508-128029508;G/T missense_variant False LRRC4@p.S164C 1 0.185714286 ENSG00000128594 chr7:128030150-128030150;G/C missense_variant False LRRC4@p.S237C 1 0.157894737 ENSG00000128594 chr7:128029931-128029931;G/C missense_variant False LRRC4B@p.E235Q 1 0.205128205 ENSG00000131409 chr19:50519010-50519010;C/G missense_variant False LRRC4B@p.E377K 1 0.130434783 ENSG00000131409 chr19:50518584-50518584;C/T missense_variant False LRRC4B@p.L117M 1 0.068965517 ENSG00000131409 chr19:50519364-50519364;G/T missense_variant False LRRC4B@p.T439M 1 0.359550562 ENSG00000131409 chr19:50518397-50518397;G/A missense_variant False LRFN2@p.S236F 1 0.274509804 ENSG00000156564 chr6:40432407-40432407;G/A missense_variant False LRFN2@p.Q210H 1 0.351851852 ENSG00000156564 chr6:40432484-40432484;C/G missense_variant False LRFN2@p.P713L 1 0.16 ENSG00000156564 chr6:40392175-40392175;G/A missense_variant False LIN28A@p.H148Y 1 0.258064516 ENSG00000131914 chr1:26426270-26426270;C/T missense_variant False LIN54@p.Q445H 1 0.052631579 ENSG00000189308 chr4:82939644-82939644;C/G missense_variant False LIN54@p.P151L 1 0.253012048 ENSG00000189308 chr4:82984393-82984393;G/A missense_variant False LIN54@p.K283N 1 0.404494382 ENSG00000189308 chr4:82970429-82970429;C/G missense_variant False LIN54@p.I61V 1 0.446428571 ENSG00000189308 chr4:82984664-82984664;T/C missense_variant False LIN54@p.E7K 1 0.286624204 ENSG00000189308 chr4:82984826-82984826;C/T missense_variant False LIN52@p.R81Q 1 0.14516129 ENSG00000205659 chr14:74101197-74101197;G/A missense_variant False LIN28A@p.C161W 1 0.093457944 ENSG00000131914 chr1:26426311-26426311;C/G missense_variant False LIN7A@p.D180N 1 0.472527473 ENSG00000111052 chr12:80811629-80811629;C/T missense_variant False LIMS1@p.R257C 1 0.52293578 ENSG00000169756 chr2:108678009-108678009;C/T missense_variant False LIMS1@p.R203G 1 0.61971831 ENSG00000169756 chr2:108675990-108675990;C/G missense_variant False LIMS1@p.G323E 1 0.14084507 ENSG00000169756 chr2:108683989-108683989;G/A missense_variant False LIMK2@p.L417V 1 0.297297297 ENSG00000182541 chr22:31267896-31267896;C/G missense_variant False LIMK2@p.I392F 1 0.25 ENSG00000182541 chr22:31267821-31267821;A/T missense_variant False LIMK2@p.E602K 1 0.520231214 ENSG00000182541 chr22:31278328-31278328;G/A missense_variant False LIN54@p.S173L 1 0.222222222 ENSG00000189308 chr4:82984327-82984327;G/A missense_variant False LIN7A@p.E83K 1 0.642857143 ENSG00000111052 chr12:80848277-80848277;C/T missense_variant False LRFN2@p.P647L 1 0.277777778 ENSG00000156564 chr6:40392373-40392373;G/A missense_variant False LINGO2@p.I285M 1 0.188034188 ENSG00000174482 chr9:27949817-27949817;G/C missense_variant False LINGO3@p.F164L 1 0.15625 ENSG00000220008 chr19:2291285-2291285;G/T missense_variant False LINGO3@p.E513D 1 0.194444444 ENSG00000220008 chr19:2290238-2290238;C/G missense_variant False LINGO3@p.E509K 1 0.290322581 ENSG00000220008 chr19:2290252-2290252;C/T missense_variant False LINGO3@p.D523N 1 0.6 ENSG00000220008 chr19:2290210-2290210;C/T missense_variant False LINGO2@p.V565L 1 0.138888889 ENSG00000174482 chr9:27948979-27948979;C/A missense_variant False LINGO2@p.I577V 1 0.113924051 ENSG00000174482 chr9:27948943-27948943;T/C missense_variant False LINGO2@p.F77L 1 0.395604396 ENSG00000174482 chr9:27950441-27950441;G/T missense_variant False LIN7A@p.G125E 1 0.219178082 ENSG00000111052 chr12:80845839-80845839;C/T missense_variant False LINGO1@p.R584Q 1 0.56097561 ENSG00000169783 chr15:77614156-77614156;C/T missense_variant False LINGO1@p.L311I 1 0.174418605 ENSG00000169783 chr15:77614976-77614976;G/T missense_variant False LINGO1@p.I83M 1 0.428571429 ENSG00000169783 chr15:77615658-77615658;G/C missense_variant False LINGO1@p.E152K 1 0.252427184 ENSG00000169783 chr15:77615453-77615453;C/T missense_variant False LIN7C@p.Y54C 1 0.375 ENSG00000148943 chr11:27501562-27501562;T/C missense_variant False LIN7B@p.D129N 1 0.394736842 ENSG00000104863 chr19:49116419-49116419;G/A missense_variant False LIMK2@p.E106K 1 0.666666667 ENSG00000182541 chr22:31259184-31259184;G/A missense_variant False LIMK1@p.S157F 1 0.186046512 ENSG00000106683 chr7:74099100-74099100;C/T missense_variant False LIMK1@p.R329Q 1 0.472222222 ENSG00000106683 chr7:74107114-74107114;G/A missense_variant False LIMA1@p.I97Sfs*4 1 0.134328358 ENSG00000050405 chr12:50222343-50222362;TGGTCTGCTCTGTGCCTAAT/- frameshift_variant False LIMA1@p.S601F 1 0.283018868 ENSG00000050405 chr12:50177542-50177542;G/A missense_variant False LIMA1@p.S31L 1 0.463157895 ENSG00000050405 chr12:50248660-50248660;G/A missense_variant False LIMA1@p.P497S 1 0.348484848 ENSG00000050405 chr12:50177855-50177855;G/A missense_variant False LIMA1@p.P134L 1 0.328571429 ENSG00000050405 chr12:50222250-50222250;G/A missense_variant False LIMA1@p.L262V 1 0.459677419 ENSG00000050405 chr12:50204632-50204632;G/C missense_variant False LIMA1@p.K28N 1 0.452991453 ENSG00000050405 chr12:50248668-50248668;C/A missense_variant False LIMA1@p.I145M 1 0.171428571 ENSG00000050405 chr12:50222216-50222216;G/C missense_variant False LIMK1@p.M209I 1 0.476190476 ENSG00000106683 chr7:74105893-74105893;G/A missense_variant False LIMA1@p.G427V 1 0.075 ENSG00000050405 chr12:50178064-50178064;C/A missense_variant False LIMA1@p.E351G 1 0.282608696 ENSG00000050405 chr12:50192540-50192540;T/C missense_variant False LILRB5@p.Y96H 1 0.21754386 ENSG00000105609 chr19:54256558-54256558;A/G missense_variant False LILRB5@p.R236P 1 0.076923077 ENSG00000105609 chr19:54255531-54255531;C/G missense_variant False LILRB5@p.F380L 1 0.23943662 ENSG00000105609 chr19:54254850-54254850;G/C missense_variant False LILRB5@p.E569D 1 0.193548387 ENSG00000105609 chr19:54250855-54250855;C/A missense_variant False LIMCH1@p.E440Q 1 0.204724409 ENSG00000064042 chr4:41646546-41646546;G/C missense_variant False LIMCH1@p.K68N 1 0.28440367 ENSG00000064042 chr4:41524445-41524445;G/C missense_variant False LIMCH1@p.Q747E 1 0.188679245 ENSG00000064042 chr4:41666663-41666663;C/G missense_variant False LIMCH1@p.S320C 1 0.044117647 ENSG00000064042 chr4:41638955-41638955;C/G missense_variant False LIMCH1@p.S435Y 1 0.196202532 ENSG00000064042 chr4:41646532-41646532;C/A missense_variant False LIMCH1@p.S471L 1 0.052325581 ENSG00000064042 chr4:41646640-41646640;C/T missense_variant False LIMCH1@p.V705M 1 0.333333333 ENSG00000064042 chr4:41662961-41662961;G/A missense_variant False LIMD1@p.E459Q 1 0.285714286 ENSG00000144791 chr3:45596254-45596254;G/C missense_variant False LIMD1@p.G553W 1 0.100719424 ENSG00000144791 chr3:45672705-45672705;G/T missense_variant False LIMD1@p.G81Wfs*14 1 0.6 ENSG00000144791 chr3:45595120-45595129;GGGGGCCGCC/- frameshift_variant False LIMD1@p.R621T 1 0.423076923 ENSG00000144791 chr3:45674380-45674380;G/C missense_variant False LIMD1@p.S157F 1 0.429824561 ENSG00000144791 chr3:45595349-45595349;C/T missense_variant False LIMD1@p.S296F 1 0.225 ENSG00000144791 chr3:45595766-45595766;C/T missense_variant False LIME1@p.C270Rfs*15 1 0.206896552 ENSG00000203896 chr20:63738815-63738816;-/CA frameshift_variant False LIME1@p.S293Y 1 0.322580645 ENSG00000203896 chr20:63738890-63738890;C/A missense_variant False LIMK1@p.K472N 1 0.216216216 ENSG00000106683 chr7:74115807-74115807;G/C missense_variant False LIMK1@p.K489N 1 0.090909091 ENSG00000106683 chr7:74115858-74115858;G/C missense_variant False LINGO3@p.R367C 1 0.277777778 ENSG00000220008 chr19:2290678-2290678;G/A missense_variant False LINGO3@p.S340L 1 0.37254902 ENSG00000220008 chr19:2290758-2290758;G/A missense_variant False LINGO4@p.F593L 1 0.230769231 ENSG00000213171 chr1:151800926-151800926;G/C missense_variant False LIX1@p.E119G 1 0.306122449 ENSG00000145721 chr5:97107391-97107391;T/C missense_variant False LLGL1@p.S255L 1 0.6 ENSG00000131899 chr17:18234322-18234322;C/T missense_variant False LLGL1@p.L644Q 1 0.380952381 ENSG00000131899 chr17:18238093-18238093;T/A missense_variant False LLGL1@p.D956N 1 0.14 ENSG00000131899 chr17:18241983-18241983;G/A missense_variant False LLCFC1@p.S90L 1 0.084337349 ENSG00000165131 chr7:142940394-142940394;C/T missense_variant False LIX1L@p.Q238E 1 0.107692308 ENSG00000271601 chr1:145936967-145936967;G/C missense_variant False LIX1@p.E159Q 1 0.150943396 ENSG00000145721 chr5:97105198-97105198;C/G missense_variant False LIPT1@p.G75R 1 0.411764706 ENSG00000144182 chr2:99162180-99162180;G/C missense_variant False LIPI@p.D56N 1 0.216346154 ENSG00000188992 chr21:14189363-14189363;C/T missense_variant False LIPN@p.R78L 1 0.22 ENSG00000204020 chr10:88764416-88764416;G/T missense_variant False LIPJ@p.D235Y 1 0.168316832 ENSG00000204022 chr10:88596916-88596916;G/T missense_variant False LIPJ@p.D199H 1 0.261538462 ENSG00000204022 chr10:88596808-88596808;G/C missense_variant False LIPJ@p.D14H 1 0.46875 ENSG00000204022 chr10:88591408-88591408;G/C missense_variant False LIPI@p.S234C 1 0.5625 ENSG00000188992 chr21:14181763-14181763;G/C missense_variant False LIPI@p.Q115H 1 0.36 ENSG00000188992 chr21:14189184-14189184;C/G missense_variant False LLGL1@p.S928F 1 0.076923077 ENSG00000131899 chr17:18241900-18241900;C/T missense_variant False LLGL2@p.D502N 1 0.370967742 ENSG00000073350 chr17:75569248-75569248;G/A missense_variant False LLGL2@p.E536K 1 0.166666667 ENSG00000073350 chr17:75569987-75569987;G/A missense_variant False LLGL2@p.Q367H 1 0.181818182 ENSG00000073350 chr17:75568540-75568540;G/C missense_variant False LLGL2@p.S250C 1 0.211764706 ENSG00000073350 chr17:75563386-75563386;C/G missense_variant False LLGL2@p.T868S 1 0.559322034 ENSG00000073350 chr17:75573156-75573156;C/G missense_variant False LMAN1@p.E305Rfs*22 1 0.256410256 ENSG00000074695 chr18:59345962-59345962;T/- frameshift_variant False LMAN1@p.E441Q 1 0.557142857 ENSG00000074695 chr18:59333144-59333144;C/G missense_variant False LMAN1@p.L24R 1 0.232142857 ENSG00000074695 chr18:59359174-59359174;A/C missense_variant False LMAN1L@p.P220S 1 0.272058824 ENSG00000140506 chr15:74819212-74819212;C/T missense_variant False LMAN1L@p.S162F 1 0.339285714 ENSG00000140506 chr15:74816678-74816678;C/T missense_variant False LMAN2@p.D288H 1 0.136363636 ENSG00000169223 chr5:177334332-177334332;C/G missense_variant False LMAN2@p.M227I 1 0.185185185 ENSG00000169223 chr5:177337245-177337245;C/G missense_variant False LMAN2@p.S100C 1 0.336134454 ENSG00000169223 chr5:177351189-177351189;G/C missense_variant False LMAN2@p.T81I 1 0.338983051 ENSG00000169223 chr5:177351246-177351246;G/A missense_variant False LMAN2L@p.E277Q 1 0.25974026 ENSG00000114988 chr2:96707789-96707789;C/G missense_variant False LMAN2L@p.L269F 1 0.443478261 ENSG00000114988 chr2:96707811-96707811;C/G missense_variant False LIPI@p.E125del 1 0.192307692 ENSG00000188992 chr21:14189152-14189154;TCT/- inframe_deletion False LIPH@p.S97F 1 0.247706422 ENSG00000163898 chr3:185534892-185534892;G/A missense_variant False LINGO4@p.R421Q 1 0.111842105 ENSG00000213171 chr1:151801443-151801443;C/T missense_variant False LIPC@p.D212H 1 0.597911227 ENSG00000166035 chr15:58545801-58545801;G/C missense_variant False LIPE@p.E899Q 1 0.1875 ENSG00000079435 chr19:42402879-42402879;C/G missense_variant False LIPE@p.E576Q 1 0.278688525 ENSG00000079435 chr19:42407722-42407722;C/G missense_variant False LIPE@p.E227Q 1 0.259259259 ENSG00000079435 chr19:42426471-42426471;C/G missense_variant False LIPE@p.E227K 1 0.558139535 ENSG00000079435 chr19:42426471-42426471;C/T missense_variant False LIPC@p.R189K 1 0.242038217 ENSG00000166035 chr15:58542643-58542643;G/A missense_variant False LIPC@p.E258Q 1 0.314285714 ENSG00000166035 chr15:58545939-58545939;G/C missense_variant False LIPA@p.R276T 1 0.571428571 ENSG00000107798 chr10:89222578-89222578;C/G missense_variant False LIPH@p.F317L 1 0.151079137 ENSG00000163898 chr3:185517098-185517098;G/C missense_variant False LIPA@p.G229A 1 0.11827957 ENSG00000107798 chr10:89223820-89223820;C/G missense_variant False LINS1@p.Q81E 1 0.565217391 ENSG00000140471 chr15:100580602-100580602;G/C missense_variant False LINS1@p.I723M 1 0.336065574 ENSG00000140471 chr15:100569343-100569343;G/C missense_variant False LINS1@p.E638Q 1 0.621212121 ENSG00000140471 chr15:100569600-100569600;C/G missense_variant False LINS1@p.E183K 1 0.26446281 ENSG00000140471 chr15:100575071-100575071;C/T missense_variant False LINS1@p.D447N 1 0.452830189 ENSG00000140471 chr15:100571949-100571949;C/T missense_variant False LIPE@p.E927Q 1 0.215686275 ENSG00000079435 chr19:42402795-42402795;C/G missense_variant False LIPE@p.K791N 1 0.24137931 ENSG00000079435 chr19:42405554-42405554;C/G missense_variant False LIPE@p.L879F 1 0.31372549 ENSG00000079435 chr19:42402937-42402937;C/G missense_variant False LIPE@p.Q658L 1 0.538461538 ENSG00000079435 chr19:42407338-42407338;T/A missense_variant False LIPE@p.R933K 1 0.246376812 ENSG00000079435 chr19:42402776-42402776;C/T missense_variant False LIPE@p.S391Y 1 0.233333333 ENSG00000079435 chr19:42410554-42410554;G/T missense_variant False LIPE@p.T189M 1 0.327586207 ENSG00000079435 chr19:42426584-42426584;G/A missense_variant False LIPF@p.D350Y 1 0.238095238 ENSG00000182333 chr10:88678532-88678532;G/T missense_variant False LIPF@p.E48K 1 0.196721311 ENSG00000182333 chr10:88667605-88667605;G/A missense_variant False LIPF@p.E54K 1 0.104651163 ENSG00000182333 chr10:88667623-88667623;G/A missense_variant False LIPF@p.L353F 1 0.153846154 ENSG00000182333 chr10:88678541-88678541;C/T missense_variant False LIPF@p.Q37H 1 0.413043478 ENSG00000182333 chr10:88667574-88667574;G/C missense_variant False LIPG@p.D203N 1 0.210526316 ENSG00000101670 chr18:49575404-49575404;G/A missense_variant False LIPG@p.D485N 1 0.444444444 ENSG00000101670 chr18:49586822-49586822;G/A missense_variant False LIPG@p.K206N 1 0.154929577 ENSG00000101670 chr18:49575415-49575415;G/C missense_variant False LIPG@p.P27T 1 0.25210084 ENSG00000101670 chr18:49562387-49562387;C/A missense_variant False LIPH@p.D229H 1 0.233333333 ENSG00000163898 chr3:185524104-185524104;C/G missense_variant False LILRB5@p.A542D 1 0.237410072 ENSG00000105609 chr19:54252058-54252058;G/T missense_variant False LILRB4@p.P245H 1 0.611111111 ENSG00000186818 chr19:54665157-54665157;C/A missense_variant False LILRB4@p.G303W 1 0.164383562 ENSG00000186818 chr19:54666272-54666272;G/T missense_variant False LHCGR@p.R124G 1 0.425233645 ENSG00000138039 chr2:48725689-48725689;G/C missense_variant False LHFPL4@p.E153K 1 0.414285714 ENSG00000156959 chr3:9506153-9506153;C/T missense_variant False LHFPL3@p.M157L 1 0.307692308 ENSG00000187416 chr7:104736740-104736740;A/T missense_variant False LHFPL2@p.S10W 1 0.12 ENSG00000145685 chr5:78510185-78510185;G/C missense_variant False LHFPL2@p.L151F 1 0.419753086 ENSG00000145685 chr5:78489131-78489131;C/G missense_variant False LHFPL2@p.G177A 1 0.416666667 ENSG00000145685 chr5:78489054-78489054;C/G missense_variant False LHCGR@p.S591L 1 0.154761905 ENSG00000138039 chr2:48688025-48688025;G/A missense_variant False LHCGR@p.L574F 1 0.385321101 ENSG00000138039 chr2:48688077-48688077;G/A missense_variant False LGSN@p.L181F 1 0.333333333 ENSG00000146166 chr6:63281008-63281008;C/G missense_variant False LHCGR@p.L462V 1 0.141509434 ENSG00000138039 chr2:48688413-48688413;G/C missense_variant False LHCGR@p.I245V 1 0.393258427 ENSG00000138039 chr2:48698748-48698748;T/C missense_variant False LHCGR@p.F218Y 1 0.178217822 ENSG00000138039 chr2:48708975-48708975;A/T missense_variant False LHCGR@p.D84G 1 0.145454545 ENSG00000138039 chr2:48729210-48729210;T/C missense_variant False LHB@p.S118C 1 0.155555556 ENSG00000104826 chr19:49016141-49016141;G/C missense_variant False LGSN@p.V254I 1 0.333333333 ENSG00000146166 chr6:63280791-63280791;C/T missense_variant False LHFPL5@p.F65L 1 0.654150198 ENSG00000197753 chr6:35805865-35805865;C/G missense_variant False LHFPL5@p.G110V 1 0.130208333 ENSG00000197753 chr6:35805999-35805999;G/T missense_variant False LHFPL5@p.S154L 1 0.274509804 ENSG00000197753 chr6:35814594-35814594;C/T missense_variant False LHFPL6@p.G9V 1 0.133333333 ENSG00000183722 chr13:39601191-39601191;C/A missense_variant False LHFPL6@p.K193N 1 0.5 ENSG00000183722 chr13:39343960-39343960;C/G missense_variant False LHFPL6@p.S3F 1 0.476190476 ENSG00000183722 chr13:39601209-39601209;G/A missense_variant False LHPP@p.D269H 1 0.444444444 ENSG00000107902 chr10:124613352-124613352;G/C missense_variant False LHX1@p.E358K 1 0.344827586 ENSG00000273706 chr17:36942982-36942982;G/A missense_variant False LHX1@p.E371K 1 0.359375 ENSG00000273706 chr17:36943021-36943021;G/A missense_variant False LHX1@p.S44C 1 0.215189873 ENSG00000273706 chr17:36938328-36938328;C/G missense_variant False LHX1@p.T194M 1 0.136363636 ENSG00000273706 chr17:36940793-36940793;C/T missense_variant False LHX2@p.A188V 1 0.119047619 ENSG00000106689 chr9:124015361-124015361;C/T missense_variant False LHX2@p.S347W 1 0.621621622 ENSG00000106689 chr9:124032526-124032526;C/G missense_variant False LHX2@p.S357L 1 0.777777778 ENSG00000106689 chr9:124032556-124032556;C/T missense_variant False LHX2@p.T374I 1 0.113924051 ENSG00000106689 chr9:124032607-124032607;C/T missense_variant False LHX3@p.C78S 1 0.173913043 ENSG00000107187 chr9:136200600-136200600;C/G missense_variant False LHX3@p.S192F 1 0.380952381 ENSG00000107187 chr9:136198939-136198939;G/A missense_variant False LGSN@p.V126L 1 0.221311475 ENSG00000146166 chr6:63281175-63281175;C/A missense_variant False LGSN@p.H235R 1 0.492424242 ENSG00000146166 chr6:63280847-63280847;T/C missense_variant False LHX4@p.Q300E 1 0.330645161 ENSG00000121454 chr1:180274304-180274304;C/G missense_variant False LGI2@p.N253K 1 0.165829146 ENSG00000153012 chr4:25012396-25012396;G/T missense_variant False LGI4@p.D534H 1 0.23255814 ENSG00000153902 chr19:35125207-35125207;C/G missense_variant False LGI3@p.R358H 1 0.363636364 ENSG00000168481 chr8:22148734-22148734;C/T missense_variant False LGI3@p.Q525H 1 0.454545455 ENSG00000168481 chr8:22148232-22148232;C/A missense_variant False LGI3@p.E333Q 1 0.666666667 ENSG00000168481 chr8:22148810-22148810;C/G missense_variant False LGI3@p.D160H 1 0.13592233 ENSG00000168481 chr8:22153984-22153984;C/G missense_variant False LGI2@p.S324F 1 0.596153846 ENSG00000153012 chr4:25004118-25004118;G/A missense_variant False LGI2@p.A464S 1 0.151515152 ENSG00000153012 chr4:25003699-25003699;C/A missense_variant False LGSN@p.E460Q 1 0.693333333 ENSG00000146166 chr6:63280173-63280173;C/G missense_variant False LGI1@p.P391H 1 0.290909091 ENSG00000108231 chr10:93797301-93797301;C/A missense_variant False LGI1@p.L117V 1 0.129032258 ENSG00000108231 chr10:93777440-93777440;C/G missense_variant False LGI1@p.E4Q 1 0.424242424 ENSG00000108231 chr10:93758154-93758154;G/C missense_variant False LGI1@p.E196Q 1 0.369565217 ENSG00000108231 chr10:93792825-93792825;G/C missense_variant False LGALSL@p.E127K 1 0.1171875 ENSG00000119862 chr2:64458288-64458288;G/A missense_variant False LGALSL@p.D9N 1 0.25 ENSG00000119862 chr2:64454570-64454570;G/A missense_variant False LGI4@p.L7M 1 0.142857143 ENSG00000153902 chr19:35134662-35134662;G/T missense_variant False LGI4@p.R513K 1 0.246575342 ENSG00000153902 chr19:35125269-35125269;C/T missense_variant False LGMN@p.P417A 1 0.054054054 ENSG00000100600 chr14:92704650-92704650;G/C missense_variant False LGR4@p.D649H 1 0.195488722 ENSG00000205213 chr11:27368778-27368778;C/G missense_variant False LGR4@p.L295V 1 0.487804878 ENSG00000205213 chr11:27380659-27380659;A/C missense_variant False LGR4@p.S906F 1 0.136363636 ENSG00000205213 chr11:27368006-27368006;G/A missense_variant False LGR5@p.E331D 1 0.380530973 ENSG00000139292 chr12:71566695-71566695;G/C missense_variant False LGR5@p.E385K 1 0.484848485 ENSG00000139292 chr12:71572866-71572866;G/A missense_variant False LGR5@p.F795C 1 0.505050505 ENSG00000139292 chr12:71584394-71584394;T/G missense_variant False LGR5@p.L657V 1 0.222222222 ENSG00000139292 chr12:71583979-71583979;C/G missense_variant False LGR5@p.S58L 1 0.384615385 ENSG00000139292 chr12:71440253-71440253;C/T missense_variant False LGR5@p.S900F 1 0.435483871 ENSG00000139292 chr12:71584709-71584709;C/T missense_variant False LGR6@p.D317Y 1 0.21686747 ENSG00000133067 chr1:202303298-202303298;G/T missense_variant False LGR6@p.L324F 1 0.3 ENSG00000133067 chr1:202303319-202303319;C/T missense_variant False LGR6@p.S898L 1 0.154761905 ENSG00000133067 chr1:202318996-202318996;C/T missense_variant False LGR6@p.V572M 1 0.289156627 ENSG00000133067 chr1:202318017-202318017;G/A missense_variant False LGR6@p.W135G 1 0.083333333 ENSG00000133067 chr1:202235968-202235968;T/G missense_variant False LHX4@p.L264F 1 0.196078431 ENSG00000121454 chr1:180274196-180274196;C/T missense_variant False LHX4@p.S245C 1 0.101694915 ENSG00000121454 chr1:180271962-180271962;C/G missense_variant False LILRB3@p.S602F 1 0.216216216 ENSG00000204577 chr19:54217220-54217220;G/A missense_variant False LILRA1@p.S305C 1 0.164383562 ENSG00000104974 chr19:54595891-54595891;C/G missense_variant False LILRA4@p.S68L 1 0.488372093 ENSG00000239961 chr19:54338548-54338548;G/A missense_variant False LILRA4@p.R287L 1 0.473684211 ENSG00000239961 chr19:54337492-54337492;C/A missense_variant False LILRA4@p.F10L 1 0.421686747 ENSG00000239961 chr19:54339064-54339064;G/T missense_variant False LILRA4@p.D211N 1 0.203125 ENSG00000239961 chr19:54337960-54337960;C/T missense_variant False LILRA2@p.Q345K 1 0.463157895 ENSG00000239998 chr19:54575887-54575887;C/A missense_variant False LILRA1@p.S400L 1 0.35 ENSG00000104974 chr19:54596429-54596429;C/T missense_variant False LILRA1@p.S183F 1 0.54954955 ENSG00000104974 chr19:54595289-54595289;C/T missense_variant False LIG4@p.E906K 1 0.324324324 ENSG00000174405 chr13:108208553-108208553;C/T missense_variant False LILRA1@p.S128L 1 0.164948454 ENSG00000104974 chr19:54595124-54595124;C/T missense_variant False LIG4@p.R879S 1 0.214285714 ENSG00000174405 chr13:108208632-108208632;T/A missense_variant False LIG4@p.R846W 1 0.554054054 ENSG00000174405 chr13:108208733-108208733;G/A missense_variant False LIG4@p.R815H 1 0.28 ENSG00000174405 chr13:108208825-108208825;C/T missense_variant False LIG4@p.L810V 1 0.318181818 ENSG00000174405 chr13:108208841-108208841;G/C missense_variant False LIG4@p.I466F 1 0.15210356 ENSG00000174405 chr13:108209873-108209873;T/A missense_variant False LILRA5@p.E176K 1 0.19047619 ENSG00000187116 chr19:54311600-54311600;C/T missense_variant False LILRA5@p.F138L 1 0.51754386 ENSG00000187116 chr19:54311712-54311712;G/C missense_variant False LILRA6@p.E305Q 1 0.11627907 ENSG00000244482 chr19:54240873-54240873;C/G missense_variant False LILRA6@p.G462R 1 0.686868687 ENSG00000244482 chr19:54239015-54239015;C/T missense_variant False LILRB1@p.A626V 1 0.478873239 ENSG00000104972 chr19:54636570-54636570;C/T missense_variant False LILRB1@p.E199K 1 0.22875817 ENSG00000104972 chr19:54632063-54632063;G/A missense_variant False LILRB1@p.I217L 1 0.140350877 ENSG00000104972 chr19:54632117-54632117;A/C missense_variant False LILRB1@p.L671F 1 0.11627907 ENSG00000104972 chr19:54636785-54636785;G/T missense_variant False LILRB1@p.S144L 1 0.195652174 ENSG00000104972 chr19:54631752-54631752;C/T missense_variant False LILRB1@p.S693C 1 0.0625 ENSG00000104972 chr19:54636849-54636849;A/T missense_variant False LILRB2@p.A556G 1 0.144736842 ENSG00000131042 chr19:54274813-54274813;G/C missense_variant False LILRB2@p.L142I 1 0.138121547 ENSG00000131042 chr19:54279579-54279579;G/T missense_variant False LILRB3@p.A498E 1 0.566037736 ENSG00000204577 chr19:54218808-54218808;G/T missense_variant False LILRB3@p.L640V 1 0.282608696 ENSG00000204577 chr19:54217107-54217107;G/C missense_variant False LILRB3@p.S127L 1 0.30625 ENSG00000204577 chr19:54222106-54222106;G/A missense_variant False LILRB3@p.S131I 1 0.191056911 ENSG00000204577 chr19:54222094-54222094;C/A missense_variant False LILRB3@p.S575C 1 0.373493976 ENSG00000204577 chr19:54217380-54217380;G/C missense_variant False LIG4@p.G123A 1 0.325966851 ENSG00000174405 chr13:108210901-108210901;C/G missense_variant False LIG4@p.E800Q 1 0.056818182 ENSG00000174405 chr13:108208871-108208871;C/G missense_variant False LHX5@p.D118E 1 0.44 ENSG00000089116 chr12:113469165-113469165;G/T missense_variant False LHX9@p.S347L 1 0.14084507 ENSG00000143355 chr1:197929105-197929105;C/T missense_variant False LIF@p.E104Q 1 0.3 ENSG00000128342 chr22:30243950-30243950;C/G missense_variant False LIAS@p.S50Y 1 0.5 ENSG00000121897 chr4:39460893-39460893;C/A missense_variant False LIAS@p.S30F 1 0.472527473 ENSG00000121897 chr4:39460833-39460833;C/T missense_variant False LIAS@p.R146C 1 0.384615385 ENSG00000121897 chr4:39470026-39470026;C/T missense_variant False LIAS@p.K163N 1 0.285714286 ENSG00000121897 chr4:39470079-39470079;G/C missense_variant False LIAS@p.D147N 1 0.142857143 ENSG00000121897 chr4:39470029-39470029;G/A missense_variant False LHX9@p.P62L 1 0.43125 ENSG00000143355 chr1:197919982-197919982;C/T missense_variant False LIG4@p.E592K 1 0.306666667 ENSG00000174405 chr13:108209495-108209495;C/T missense_variant False LHX9@p.A69T 1 0.067669173 ENSG00000143355 chr1:197920002-197920002;G/A missense_variant False LHX8@p.T321M 1 0.203539823 ENSG00000162624 chr1:75157044-75157044;C/T missense_variant False LHX8@p.S50L 1 0.2 ENSG00000162624 chr1:75137143-75137143;C/T missense_variant False LHX8@p.R229Q 1 0.259259259 ENSG00000162624 chr1:75143920-75143920;G/A missense_variant False LHX8@p.P55L 1 0.379310345 ENSG00000162624 chr1:75137158-75137158;C/T missense_variant False LHX5@p.D75Y 1 0.350877193 ENSG00000089116 chr12:113469296-113469296;C/A missense_variant False LIF@p.L65F 1 0.179487179 ENSG00000128342 chr22:30244760-30244760;G/A missense_variant False LIFR@p.D1043N 1 0.352517986 ENSG00000113594 chr5:38481762-38481762;C/T missense_variant False LIFR@p.G766R 1 0.134615385 ENSG00000113594 chr5:38489117-38489117;C/T missense_variant False LIFR@p.I349M 1 0.490909091 ENSG00000113594 chr5:38506577-38506577;A/C missense_variant False LIFR@p.I719M 1 0.292857143 ENSG00000113594 chr5:38490200-38490200;T/C missense_variant False LIFR@p.L911V 1 0.353535354 ENSG00000113594 chr5:38482158-38482158;G/C missense_variant False LIFR@p.N1038T 1 0.067567568 ENSG00000113594 chr5:38481776-38481776;T/G missense_variant False LIFR@p.P333L 1 0.357142857 ENSG00000113594 chr5:38506626-38506626;G/A missense_variant False LIFR@p.Q257E 1 0.320987654 ENSG00000113594 chr5:38510686-38510686;G/C missense_variant False LIFR@p.S1062F 1 0.087649402 ENSG00000113594 chr5:38481704-38481704;G/A missense_variant False LIG1@p.D107N 1 0.126506024 ENSG00000105486 chr19:48157065-48157065;C/T missense_variant False LIG1@p.P283L 1 0.179487179 ENSG00000105486 chr19:48143892-48143892;G/A missense_variant False LIG1@p.S402F 1 0.566666667 ENSG00000105486 chr19:48137571-48137571;G/A missense_variant False LIG3@p.E376Q 1 0.506666667 ENSG00000005156 chr17:34991755-34991755;G/C missense_variant False LIG3@p.E856K 1 0.227272727 ENSG00000005156 chr17:35001996-35001996;G/A missense_variant False LIG3@p.L321F 1 0.345132743 ENSG00000005156 chr17:34991036-34991036;G/C missense_variant False LIG3@p.R67H 1 0.327731092 ENSG00000005156 chr17:34983205-34983205;G/A missense_variant False LMAN2L@p.M75I 1 0.404761905 ENSG00000114988 chr2:96738030-96738030;C/T missense_variant False LMAN2L@p.S70L 1 0.461538462 ENSG00000114988 chr2:96738046-96738046;G/A missense_variant False LMBR1@p.L151F 1 0.169811321 ENSG00000105983 chr7:156763766-156763766;C/G missense_variant False LPAR4@p.I291S 1 0.079207921 ENSG00000147145 chrX:78755741-78755741;T/G missense_variant False LPCAT2@p.F149L 1 0.449541284 ENSG00000087253 chr16:55528512-55528512;C/A missense_variant False LPCAT1@p.Q268L 1 0.282051282 ENSG00000153395 chr5:1479634-1479634;T/A missense_variant False LPAR6@p.T202I 1 0.333333333 ENSG00000139679 chr13:48411819-48411819;G/A missense_variant False LPAR6@p.F316L 1 0.527777778 ENSG00000139679 chr13:48411476-48411476;G/T missense_variant False LPAR6@p.E323K 1 0.523316062 ENSG00000139679 chr13:48411457-48411457;C/T missense_variant False LPAR4@p.P143R 1 0.041666667 ENSG00000147145 chrX:78755297-78755297;C/G missense_variant False LPAR3@p.T243A 1 0.2 ENSG00000171517 chr1:84865394-84865394;T/C missense_variant False LPAR1@p.D129H 1 0.179487179 ENSG00000198121 chr9:110941829-110941829;C/G missense_variant False LPAR3@p.S111N 1 0.532786885 ENSG00000171517 chr1:84865789-84865789;C/T missense_variant False LPAR3@p.R101C 1 0.109803922 ENSG00000171517 chr1:84865820-84865820;G/A missense_variant False LPAR3@p.M307I 1 0.2 ENSG00000171517 chr1:84813987-84813987;C/G missense_variant False LPAR3@p.L113F 1 0.232727273 ENSG00000171517 chr1:84865782-84865782;C/G missense_variant False LPAR2@p.I13M 1 0.170731707 ENSG00000064547 chr19:19627246-19627246;G/C missense_variant False LPAR2@p.G331V 1 0.391752577 ENSG00000064547 chr19:19624320-19624320;C/A missense_variant False LPCAT3@p.E172Q 1 0.333333333 ENSG00000111684 chr12:6981167-6981167;C/G missense_variant False LPCAT3@p.L106I 1 0.240506329 ENSG00000111684 chr12:6982726-6982726;G/T missense_variant False LPCAT3@p.L126M 1 0.75 ENSG00000111684 chr12:6981895-6981895;G/T missense_variant False LPCAT3@p.Q121H 1 0.227272727 ENSG00000111684 chr12:6982679-6982679;C/A missense_variant False LPCAT3@p.R479M 1 0.23880597 ENSG00000111684 chr12:6977174-6977174;C/A missense_variant False LPGAT1@p.G248D 1 0.233870968 ENSG00000123684 chr1:211779029-211779029;C/T missense_variant False LPGAT1@p.L127F 1 0.5 ENSG00000123684 chr1:211787704-211787704;C/G missense_variant False LPGAT1@p.S154T 1 0.303370787 ENSG00000123684 chr1:211783496-211783496;A/T missense_variant False LPGAT1@p.V31F 1 0.431226766 ENSG00000123684 chr1:211829206-211829206;C/A missense_variant False LPIN1@p.A613T 1 0.425 ENSG00000134324 chr2:11802965-11802965;G/A missense_variant False LPIN1@p.E773Q 1 0.913043478 ENSG00000134324 chr2:11819506-11819506;G/C missense_variant False LPIN1@p.G9S 1 0.325581395 ENSG00000134324 chr2:11765566-11765566;G/A missense_variant False LPIN1@p.K168N 1 0.125 ENSG00000134324 chr2:11771587-11771587;G/C missense_variant False LPIN1@p.L667V 1 0.098360656 ENSG00000134324 chr2:11804516-11804516;C/G missense_variant False LPIN2@p.D401N 1 0.410958904 ENSG00000101577 chr18:2934418-2934418;C/T missense_variant False LPIN2@p.E259K 1 0.525 ENSG00000101577 chr18:2939527-2939527;C/T missense_variant False LPIN2@p.E371Q 1 0.383561644 ENSG00000101577 chr18:2937749-2937749;C/G missense_variant False LPAR1@p.S304C 1 0.479166667 ENSG00000198121 chr9:110875605-110875605;G/C missense_variant False LPA@p.W1123R 1 0.161458333 ENSG00000198670 chr6:160595456-160595456;A/T missense_variant False LPIN2@p.P623L 1 0.233766234 ENSG00000101577 chr18:2925294-2925294;G/A missense_variant False LOXL3@p.H609Qfs*9 1 0.125 ENSG00000115318 chr2:74534421-74534428;TGTGGTAA/- frameshift_variant False LPA@p.C1323Y 1 0.271428571 ENSG00000198670 chr6:160586610-160586610;C/T missense_variant False LOXL4@p.S125L 1 0.243243243 ENSG00000138131 chr10:98262117-98262117;G/A missense_variant False LOXL4@p.Q540H 1 0.176470588 ENSG00000138131 chr10:98253768-98253768;C/G missense_variant False LOXL4@p.D230Tfs*6 1 0.4375 ENSG00000138131 chr10:98259404-98259404;C/- frameshift_variant False LOXL3@p.S198W 1 0.488372093 ENSG00000115318 chr2:74549468-74549468;G/C missense_variant False LOXL3@p.Q40E 1 0.25 ENSG00000115318 chr2:74552517-74552517;G/C missense_variant False LOXL3@p.H550D 1 0.25 ENSG00000115318 chr2:74534706-74534706;G/C missense_variant False LPA@p.T387I 1 0.208715596 ENSG00000198670 chr6:160633828-160633828;G/A missense_variant False LOXL3@p.E90Q 1 0.159292035 ENSG00000115318 chr2:74552367-74552367;C/G missense_variant False LOXL3@p.E605Q 1 0.5625 ENSG00000115318 chr2:74534541-74534541;C/G missense_variant False LOXL3@p.D449N 1 0.178571429 ENSG00000115318 chr2:74535659-74535659;C/T missense_variant False LOXL3@p.D133H 1 0.08 ENSG00000115318 chr2:74550265-74550265;C/G missense_variant False LOXL2@p.T146I 1 0.27027027 ENSG00000134013 chr8:23360184-23360184;G/A missense_variant False LOXL2@p.R690C 1 0.56 ENSG00000134013 chr8:23302092-23302092;G/A missense_variant False LPA@p.C333F 1 0.008559201 ENSG00000198670 chr6:160635200-160635200;C/A missense_variant False LPA@p.E337K 1 0.014285714 ENSG00000198670 chr6:160635189-160635189;C/T missense_variant False LPA@p.F1040Lfs*5 1 0.264150943 ENSG00000198670 chr6:160600924-160600924;A/- frameshift_variant False LPA@p.G1991A 1 0.489361702 ENSG00000198670 chr6:160531880-160531880;C/G missense_variant False LPA@p.H1978D 1 0.31884058 ENSG00000198670 chr6:160532560-160532560;G/C missense_variant False LPA@p.H3L 1 0.176470588 ENSG00000198670 chr6:160664207-160664207;T/A missense_variant False LPA@p.H3Y 1 0.203947368 ENSG00000198670 chr6:160664208-160664208;G/A missense_variant False LPA@p.L1994V 1 0.592592593 ENSG00000198670 chr6:160531872-160531872;G/C missense_variant False LPA@p.P1531L 1 0.2 ENSG00000198670 chr6:160577175-160577175;G/A missense_variant False LPA@p.Q363H 1 0.134380454 ENSG00000198670 chr6:160633899-160633899;C/G missense_variant False LPA@p.R1016L 1 0.525 ENSG00000198670 chr6:160600997-160600997;C/A missense_variant False LPA@p.R1464Q 1 0.308823529 ENSG00000198670 chr6:160578603-160578603;C/T missense_variant False LPA@p.S1191F 1 0.275 ENSG00000198670 chr6:160594015-160594015;G/A missense_variant False LPA@p.S1528P 1 0.197969543 ENSG00000198670 chr6:160577185-160577185;A/G missense_variant False LPA@p.S1602C 1 0.059602649 ENSG00000198670 chr6:160557398-160557398;G/C missense_variant False LPA@p.S53L 1 0.206225681 ENSG00000198670 chr6:160650389-160650389;G/A missense_variant False LPA@p.T1150S 1 0.36440678 ENSG00000198670 chr6:160595375-160595375;T/A missense_variant False LPIN2@p.E90K 1 0.434782609 ENSG00000101577 chr18:2954524-2954524;C/T missense_variant False LPIN2@p.S530C 1 0.268292683 ENSG00000101577 chr18:2928623-2928623;T/A missense_variant False LOXL2@p.E664Q 1 0.340425532 ENSG00000134013 chr8:23303288-23303288;C/G missense_variant False LRBA@p.R2182C 1 0.14084507 ENSG00000198589 chr4:150487772-150487772;G/A missense_variant False LRCH1@p.G609R 1 0.166666667 ENSG00000136141 chr13:46728907-46728907;G/C missense_variant False LRCH1@p.C161S 1 0.43062201 ENSG00000136141 chr13:46669059-46669059;G/C missense_variant False LRBA@p.S2143Y 1 0.410958904 ENSG00000198589 chr4:150490971-150490971;G/T missense_variant False LRBA@p.S1380L 1 0.139344262 ENSG00000198589 chr4:150849441-150849441;G/A missense_variant False LRBA@p.S1325L 1 0.172413793 ENSG00000198589 chr4:150850754-150850754;G/A missense_variant False LRBA@p.S1086L 1 0.203125 ENSG00000198589 chr4:150852453-150852453;G/A missense_variant False LRBA@p.Q228H 1 0.204081633 ENSG00000198589 chr4:150916700-150916700;C/G missense_variant False LRBA@p.E1210K 1 0.436363636 ENSG00000198589 chr4:150852082-150852082;C/T missense_variant False LRBA@p.Q2048E 1 0.462365591 ENSG00000198589 chr4:150590797-150590797;G/C missense_variant False LRBA@p.Q1268E 1 0.368421053 ENSG00000198589 chr4:150851908-150851908;G/C missense_variant False LRBA@p.M1314I 1 0.153153153 ENSG00000198589 chr4:150850786-150850786;C/T missense_variant False LRBA@p.L1503F 1 0.277777778 ENSG00000198589 chr4:150844162-150844162;G/A missense_variant False LRBA@p.I1082V 1 0.237288136 ENSG00000198589 chr4:150852466-150852466;T/C missense_variant False LRBA@p.G2683S 1 0.326923077 ENSG00000198589 chr4:150302628-150302628;C/T missense_variant False LRCH1@p.S212F 1 0.212121212 ENSG00000136141 chr13:46681796-46681796;C/T missense_variant False LRCH2@p.L168I 1 1.0 ENSG00000130224 chrX:115184530-115184530;G/T missense_variant False LRCH2@p.L318F 1 0.4 ENSG00000130224 chrX:115170345-115170345;G/A missense_variant False LRCH2@p.L716I 1 0.333333333 ENSG00000130224 chrX:115122559-115122559;G/T missense_variant False LRCH3@p.D639N 1 0.355072464 ENSG00000186001 chr3:197870201-197870201;G/A missense_variant False LRCH3@p.L175F 1 0.222222222 ENSG00000186001 chr3:197817293-197817293;G/C missense_variant False LRCH3@p.L674V 1 0.201342282 ENSG00000186001 chr3:197871352-197871352;C/G missense_variant False LRCH3@p.P98A 1 0.12 ENSG00000186001 chr3:197814937-197814937;C/G missense_variant False LRCH3@p.Q605E 1 0.128440367 ENSG00000186001 chr3:197866159-197866159;C/G missense_variant False LRCH4@p.D350H 1 0.186813187 ENSG00000077454 chr7:100577732-100577732;C/G missense_variant False LRCH4@p.E85K 1 0.347826087 ENSG00000077454 chr7:100582427-100582427;C/T missense_variant False LRFN1@p.E425Q 1 0.278481013 ENSG00000128011 chr19:39314064-39314064;C/G missense_variant False LRFN1@p.L392V 1 0.145454545 ENSG00000128011 chr19:39314163-39314163;G/C missense_variant False LRFN1@p.R350Q 1 0.291666667 ENSG00000128011 chr19:39314288-39314288;C/T missense_variant False LRFN1@p.R446S 1 0.274193548 ENSG00000128011 chr19:39313999-39313999;C/A missense_variant False LRFN1@p.S547W 1 0.234042553 ENSG00000128011 chr19:39308309-39308309;G/C missense_variant False LRFN2@p.L99Rfs*32 1 0.28 ENSG00000156564 chr6:40432815-40432818;TCGA/- frameshift_variant False LRBA@p.F1719L 1 0.207792208 ENSG00000198589 chr4:150828194-150828194;G/C missense_variant False LRBA@p.E1087Q 1 0.221311475 ENSG00000198589 chr4:150852451-150852451;C/G missense_variant False LPIN2@p.Y519C 1 0.240740741 ENSG00000101577 chr18:2928655-2928655;T/C missense_variant False LPO@p.K595N 1 0.406779661 ENSG00000167419 chr17:58267440-58267440;G/T missense_variant False LPP@p.G286R 1 0.104347826 ENSG00000145012 chr3:188609587-188609587;G/A missense_variant False LPP@p.G197R 1 0.373417722 ENSG00000145012 chr3:188609320-188609320;G/A missense_variant False LPP@p.D611N 1 0.05982906 ENSG00000145012 chr3:188874471-188874471;G/A missense_variant False LPO@p.S35C 1 0.266666667 ENSG00000167419 chr17:58244021-58244021;C/G missense_variant False LPO@p.R477H 1 0.428571429 ENSG00000167419 chr17:58264885-58264885;G/A missense_variant False LPO@p.Q245E 1 0.608108108 ENSG00000167419 chr17:58250574-58250574;C/G missense_variant False LPO@p.K537N 1 0.417721519 ENSG00000167419 chr17:58266244-58266244;G/C missense_variant False LRBA@p.D2663Mfs*22 1 0.132653061 ENSG00000198589 chr4:150302662-150302689;CCAATACCACAGCAAAAGAGTTGCATCA/- frameshift_variant False LPO@p.K198N 1 0.409090909 ENSG00000167419 chr17:58250435-58250435;G/T missense_variant False LPO@p.E480Q 1 0.308823529 ENSG00000167419 chr17:58264893-58264893;G/C missense_variant False LPO@p.D210N 1 0.313953488 ENSG00000167419 chr17:58250469-58250469;G/A missense_variant False LPL@p.R44W 1 0.063492063 ENSG00000175445 chr8:19948221-19948221;A/T missense_variant False LPL@p.P184L 1 0.256097561 ENSG00000175445 chr8:19954129-19954129;C/T missense_variant False LPIN3@p.L351V 1 0.222222222 ENSG00000132793 chr20:41350346-41350346;C/G missense_variant False LPP@p.I196T 1 0.158730159 ENSG00000145012 chr3:188609318-188609318;T/C missense_variant False LPP@p.K461N 1 0.24 ENSG00000145012 chr3:188760255-188760255;G/C missense_variant False LPP@p.L473V 1 0.644444444 ENSG00000145012 chr3:188866206-188866206;C/G missense_variant False LPP@p.R113G 1 0.350515464 ENSG00000145012 chr3:188524695-188524695;A/G missense_variant False LPP@p.S217L 1 0.112149533 ENSG00000145012 chr3:188609381-188609381;C/T missense_variant False LPP@p.S480F 1 0.132075472 ENSG00000145012 chr3:188866228-188866228;C/T missense_variant False LPXN@p.E95K 1 0.074074074 ENSG00000110031 chr11:58554876-58554876;C/T missense_variant False LRAT@p.C182S 1 0.257575758 ENSG00000121207 chr4:154748988-154748988;G/C missense_variant False LRAT@p.S93C 1 0.15625 ENSG00000121207 chr4:154744604-154744604;C/G missense_variant False LRATD1@p.A234V 1 0.619047619 ENSG00000162981 chr2:14634680-14634680;C/T missense_variant False LRATD1@p.I272M 1 0.259259259 ENSG00000162981 chr2:14634795-14634795;C/G missense_variant False LRATD1@p.R271C 1 0.153846154 ENSG00000162981 chr2:14634790-14634790;C/T missense_variant False LRATD1@p.S22L 1 0.15625 ENSG00000162981 chr2:14634044-14634044;C/T missense_variant False LRATD2@p.E43Q 1 0.32 ENSG00000168672 chr8:126557263-126557263;C/G missense_variant False LRATD2@p.E80Q 1 0.258064516 ENSG00000168672 chr8:126557152-126557152;C/G missense_variant False LRATD2@p.H79P 1 0.411764706 ENSG00000168672 chr8:126557154-126557154;T/G missense_variant False LRBA@p.D1204N 1 0.514563107 ENSG00000198589 chr4:150852100-150852100;C/T missense_variant False LOXL2@p.R338C 1 0.298245614 ENSG00000134013 chr8:23328520-23328520;G/A missense_variant False LOXL2@p.E515K 1 0.166666667 ENSG00000134013 chr8:23317042-23317042;C/T missense_variant False LMBR1@p.L230V 1 0.205882353 ENSG00000105983 chr7:156756462-156756462;G/C missense_variant False LMO2@p.S56I 1 0.722222222 ENSG00000135363 chr11:33864692-33864692;C/A missense_variant False LMO7@p.E856K 1 0.229508197 ENSG00000136153 chr13:75821424-75821424;G/A missense_variant False LMO7@p.E1098K 1 0.067567568 ENSG00000136153 chr13:75834342-75834342;G/A missense_variant False LMO7@p.E1090K 1 0.281553398 ENSG00000136153 chr13:75834318-75834318;G/A missense_variant False LMO7@p.D205E 1 0.083333333 ENSG00000136153 chr13:75800725-75800725;C/A missense_variant False LMO4@p.S8L 1 0.115942029 ENSG00000143013 chr1:87332038-87332038;C/T missense_variant False LMO4@p.S116F 1 0.564814815 ENSG00000143013 chr1:87340060-87340060;C/T missense_variant False LMNTD2@p.S199C 1 0.225 ENSG00000185522 chr11:557600-557600;G/C missense_variant False LMNB2@p.E400Q 1 0.181818182 ENSG00000176619 chr19:2434299-2434299;C/G missense_variant False LMNTD2@p.D598N 1 0.413793103 ENSG00000185522 chr11:555093-555093;C/T missense_variant False LMNTD1@p.V266I 1 0.463768116 ENSG00000152936 chr12:25520015-25520015;C/T missense_variant False LMNTD1@p.T382A 1 0.466666667 ENSG00000152936 chr12:25503783-25503783;T/C missense_variant False LMNB2@p.V619M 1 0.358974359 ENSG00000176619 chr19:2430919-2430919;C/T missense_variant False LMNB2@p.R502K 1 0.246575342 ENSG00000176619 chr19:2432501-2432501;C/T missense_variant False LMNB2@p.F221L 1 0.421052632 ENSG00000176619 chr19:2438184-2438184;G/C missense_variant False LMO7@p.Q1146H 1 0.386363636 ENSG00000136153 chr13:75835333-75835333;G/C missense_variant False LMO7@p.Q1235E 1 0.14893617 ENSG00000136153 chr13:75841118-75841118;C/G missense_variant False LMO7@p.Q1583K 1 0.25 ENSG00000136153 chr13:75853363-75853363;C/A missense_variant False LMO7@p.R326K 1 0.317073171 ENSG00000136153 chr13:75804493-75804493;G/A missense_variant False LMO7@p.S1132C 1 0.157894737 ENSG00000136153 chr13:75835290-75835290;C/G missense_variant False LMOD1@p.A503V 1 0.448275862 ENSG00000163431 chr1:201899505-201899505;G/A missense_variant False LMOD1@p.R138T 1 0.23364486 ENSG00000163431 chr1:201900600-201900600;C/G missense_variant False LMOD1@p.R50W 1 0.188405797 ENSG00000163431 chr1:201946193-201946193;G/A missense_variant False LMOD2@p.D210N 1 0.413793103 ENSG00000170807 chr7:123662214-123662214;G/A missense_variant False LMOD2@p.E324K 1 0.216216216 ENSG00000170807 chr7:123662556-123662556;G/A missense_variant False LMOD2@p.F232S 1 0.192307692 ENSG00000170807 chr7:123662281-123662281;T/C missense_variant False LMOD2@p.I285V 1 0.06122449 ENSG00000170807 chr7:123662439-123662439;A/G missense_variant False LMOD2@p.R359H 1 0.411764706 ENSG00000170807 chr7:123662662-123662662;G/A missense_variant False LMOD2@p.S392P 1 0.114035088 ENSG00000170807 chr7:123662760-123662760;T/C missense_variant False LMOD2@p.Y6C 1 0.4 ENSG00000170807 chr7:123655980-123655980;A/G missense_variant False LMOD3@p.E338K 1 0.106060606 ENSG00000163380 chr3:69119343-69119343;C/T missense_variant False LMOD3@p.M468I 1 0.448275862 ENSG00000163380 chr3:69118951-69118951;C/A missense_variant False LMNB2@p.E482Q 1 0.268456376 ENSG00000176619 chr19:2433864-2433864;C/G missense_variant False LMNB2@p.E162K 1 0.473684211 ENSG00000176619 chr19:2438449-2438449;C/T missense_variant False LMOD3@p.Q413R 1 0.32183908 ENSG00000163380 chr3:69119117-69119117;T/C missense_variant False LMBRD2@p.I395M 1 0.428571429 ENSG00000164187 chr5:36117852-36117852;G/C missense_variant False LMF1@p.A71S 1 0.105263158 ENSG00000103227 chr16:954649-954649;C/A missense_variant False LMCD1@p.E39K 1 0.461538462 ENSG00000071282 chr3:8532809-8532809;G/A missense_variant False LMCD1@p.E219K 1 0.375 ENSG00000071282 chr3:8548835-8548835;G/A missense_variant False LMCD1@p.A2E 1 0.317073171 ENSG00000071282 chr3:8501943-8501943;C/A missense_variant False LMBRD2@p.Q280E 1 0.41509434 ENSG00000164187 chr5:36122946-36122946;G/C missense_variant False LMBRD2@p.M519I 1 0.325581395 ENSG00000164187 chr5:36114507-36114507;C/A missense_variant False LMBRD2@p.G37A 1 0.257575758 ENSG00000164187 chr5:36143240-36143240;C/G missense_variant False LMNB2@p.E139K 1 0.615384615 ENSG00000176619 chr19:2438518-2438518;C/T missense_variant False LMBRD2@p.D570N 1 0.345454545 ENSG00000164187 chr5:36111191-36111191;C/T missense_variant False LMBRD1@p.L224F 1 0.444444444 ENSG00000168216 chr6:69737972-69737972;C/G missense_variant False LMBR1L@p.S143F 1 0.295546559 ENSG00000139636 chr12:49104455-49104455;G/A missense_variant False LMBR1@p.S433F 1 0.339622642 ENSG00000105983 chr7:156688119-156688119;G/A missense_variant False LMBR1@p.S181C 1 0.262295082 ENSG00000105983 chr7:156763677-156763677;G/C missense_variant False LMBR1@p.L350F 1 0.771929825 ENSG00000105983 chr7:156725783-156725783;G/A missense_variant False LMF1@p.R451Q 1 0.619047619 ENSG00000103227 chr16:869947-869947;C/T missense_variant False LMF2@p.G77D 1 0.333333333 ENSG00000100258 chr22:50506900-50506900;C/T missense_variant False LMF2@p.P520R 1 0.294117647 ENSG00000100258 chr22:50504606-50504606;G/C missense_variant False LMF2@p.R492P 1 0.375 ENSG00000100258 chr22:50504690-50504690;C/G missense_variant False LMLN@p.E110K 1 0.282258065 ENSG00000185621 chr3:197975052-197975052;G/A missense_variant False LMLN@p.I140M 1 0.175 ENSG00000185621 chr3:197976100-197976100;C/G missense_variant False LMLN@p.K291T 1 0.434782609 ENSG00000185621 chr3:197985833-197985833;A/C missense_variant False LMLN@p.L304F 1 0.633333333 ENSG00000185621 chr3:197985871-197985871;C/T missense_variant False LMLN@p.Q395E 1 0.23255814 ENSG00000185621 chr3:197999293-197999293;C/G missense_variant False LMLN@p.R299G 1 0.225806452 ENSG00000185621 chr3:197985856-197985856;A/G missense_variant False LMLN@p.S20L 1 0.195121951 ENSG00000185621 chr3:197960280-197960280;C/T missense_variant False LMNA@p.D136N 1 0.7 ENSG00000160789 chr1:156130666-156130666;G/A missense_variant False LMNA@p.E115K 1 0.292682927 ENSG00000160789 chr1:156115261-156115261;G/A missense_variant False LMNA@p.G58R 1 0.5 ENSG00000160789 chr1:156115090-156115090;G/A missense_variant False LMNA@p.R388C 1 0.128205128 ENSG00000160789 chr1:156136218-156136218;C/T missense_variant False LMNB1@p.E273Q 1 0.492753623 ENSG00000113368 chr5:126811776-126811776;G/C missense_variant False LMNB1@p.S437L 1 0.178947368 ENSG00000113368 chr5:126821059-126821059;C/T missense_variant False LMOD3@p.N367I 1 0.137566138 ENSG00000163380 chr3:69119255-69119255;T/A missense_variant False LMTK2@p.A37S 1 0.264367816 ENSG00000164715 chr7:98137320-98137320;G/T missense_variant False LOXL2@p.E445K 1 0.303030303 ENSG00000134013 chr8:23320022-23320022;C/T missense_variant False LONP1@p.E557K 1 0.173076923 ENSG00000196365 chr19:5699043-5699043;C/T missense_variant False LONP2@p.E673K 1 0.161290323 ENSG00000102910 chr16:48347585-48347585;G/A missense_variant False LONP1@p.T582M 1 0.720930233 ENSG00000196365 chr19:5696698-5696698;G/A missense_variant False LONP1@p.S239L 1 0.302083333 ENSG00000196365 chr19:5711925-5711925;G/A missense_variant False LONP1@p.R158C 1 0.441176471 ENSG00000196365 chr19:5714229-5714229;G/A missense_variant False LONP1@p.Q615H 1 0.172413793 ENSG00000196365 chr19:5696300-5696300;C/G missense_variant False LONP1@p.F635L 1 0.268292683 ENSG00000196365 chr19:5696162-5696162;G/C missense_variant False LONP1@p.E281Q 1 0.140625 ENSG00000196365 chr19:5711800-5711800;C/G missense_variant False LNPEP@p.Y581C 1 0.15 ENSG00000113441 chr5:97003503-97003503;A/G missense_variant False LONP1@p.E247K 1 0.211538462 ENSG00000196365 chr19:5711902-5711902;C/T missense_variant False LONP1@p.A878G 1 0.851351351 ENSG00000196365 chr19:5693368-5693368;G/C missense_variant False LNX2@p.E148Q 1 0.133603239 ENSG00000139517 chr13:27569242-27569242;C/G missense_variant False LNX2@p.D218H 1 0.122580645 ENSG00000139517 chr13:27569032-27569032;C/G missense_variant False LNX1@p.T158M 1 0.24 ENSG00000072201 chr4:53508135-53508135;G/A missense_variant False LNX1@p.R205Q 1 0.214285714 ENSG00000072201 chr4:53507994-53507994;C/T missense_variant False LONP2@p.F108L 1 0.527777778 ENSG00000102910 chr16:48252221-48252221;C/G missense_variant False LONP2@p.G402E 1 0.068181818 ENSG00000102910 chr16:48270238-48270238;G/A missense_variant False LONP2@p.G659D 1 0.139784946 ENSG00000102910 chr16:48347544-48347544;G/A missense_variant False LONP2@p.H287Q 1 0.068965517 ENSG00000102910 chr16:48261561-48261561;T/G missense_variant False LONP2@p.N427S 1 0.322580645 ENSG00000102910 chr16:48277376-48277376;A/G missense_variant False LONRF2@p.A495P 1 0.071428571 ENSG00000170500 chr2:100295547-100295547;C/G missense_variant False LONRF2@p.D626H 1 0.203703704 ENSG00000170500 chr2:100290302-100290302;C/G missense_variant False LONRF2@p.E458K 1 0.4 ENSG00000170500 chr2:100298940-100298940;C/T missense_variant False LONRF2@p.S326F 1 0.4 ENSG00000170500 chr2:100300732-100300732;G/A missense_variant False LONRF2@p.W663C 1 0.12195122 ENSG00000170500 chr2:100286995-100286995;C/G missense_variant False LOX@p.R264K 1 0.444444444 ENSG00000113083 chr5:122075491-122075491;C/T missense_variant False LOX@p.R337Q 1 0.480263158 ENSG00000113083 chr5:122074038-122074038;C/T missense_variant False LOX@p.S140L 1 0.833333333 ENSG00000113083 chr5:122077567-122077567;G/A missense_variant False LOX@p.S232C 1 0.515625 ENSG00000113083 chr5:122076938-122076938;G/C missense_variant False LOX@p.S415L 1 0.257142857 ENSG00000113083 chr5:122070056-122070056;G/A missense_variant False LOXL1@p.D515N 1 0.09375 ENSG00000129038 chr15:73947843-73947843;G/A missense_variant False LOXL1@p.E474K 1 0.170212766 ENSG00000129038 chr15:73947137-73947137;G/A missense_variant False LNX1@p.I671T 1 0.264705882 ENSG00000072201 chr4:53461474-53461474;A/G missense_variant False LNPEP@p.S970L 1 0.189189189 ENSG00000113441 chr5:97027777-97027777;C/T missense_variant False LMTK2@p.D1011H 1 0.191489362 ENSG00000164715 chr7:98193496-98193496;G/C missense_variant False LMTK2@p.G186E 1 0.081395349 ENSG00000164715 chr7:98154864-98154864;G/A missense_variant False LMTK2@p.S1489L 1 0.277108434 ENSG00000164715 chr7:98204169-98204169;C/T missense_variant False LMTK2@p.S1251F 1 0.2 ENSG00000164715 chr7:98194217-98194217;C/T missense_variant False LMTK2@p.R134C 1 0.382022472 ENSG00000164715 chr7:98151405-98151405;C/T missense_variant False LMTK2@p.L597P 1 0.222222222 ENSG00000164715 chr7:98192255-98192255;T/C missense_variant False LMTK2@p.L152F 1 0.423611111 ENSG00000164715 chr7:98154761-98154761;C/T missense_variant False LMTK2@p.G526R 1 0.360465116 ENSG00000164715 chr7:98192041-98192041;G/C missense_variant False LMTK2@p.E748Q 1 0.580645161 ENSG00000164715 chr7:98192707-98192707;G/C missense_variant False LNPEP@p.S506C 1 0.192307692 ENSG00000113441 chr5:96996499-96996499;C/G missense_variant False LMTK2@p.E604Q 1 0.333333333 ENSG00000164715 chr7:98192275-98192275;G/C missense_variant False LMTK2@p.E206Q 1 0.202380952 ENSG00000164715 chr7:98159384-98159384;G/C missense_variant False LMTK2@p.E1262K 1 0.090909091 ENSG00000164715 chr7:98194249-98194249;G/A missense_variant False LMTK2@p.E1208K 1 0.085365854 ENSG00000164715 chr7:98194087-98194087;G/A missense_variant False LMTK2@p.E1118Q 1 0.102941176 ENSG00000164715 chr7:98193817-98193817;G/C missense_variant False LMTK2@p.D381N 1 0.324786325 ENSG00000164715 chr7:98190870-98190870;G/A missense_variant False LMTK2@p.S275F 1 0.163636364 ENSG00000164715 chr7:98185083-98185083;C/T missense_variant False LMTK2@p.S380C 1 0.106666667 ENSG00000164715 chr7:98190868-98190868;C/G missense_variant False LMTK2@p.S671F 1 0.143884892 ENSG00000164715 chr7:98192477-98192477;C/T missense_variant False LMTK2@p.T996S 1 0.175213675 ENSG00000164715 chr7:98193452-98193452;C/G missense_variant False LMTK3@p.C46R 1 0.636363636 ENSG00000142235 chr19:48510533-48510533;A/G missense_variant False LMTK3@p.E1171Q 1 0.1875 ENSG00000142235 chr19:48497558-48497558;C/G missense_variant False LMTK3@p.E1414Q 1 0.733333333 ENSG00000142235 chr19:48491234-48491234;C/G missense_variant False LMTK3@p.L149P 1 0.066666667 ENSG00000142235 chr19:48508962-48508962;A/G missense_variant False LMTK3@p.L254P 1 0.144444444 ENSG00000142235 chr19:48502466-48502466;A/G missense_variant False LMTK3@p.P1425T 1 0.454545455 ENSG00000142235 chr19:48491201-48491201;G/T missense_variant False LMTK3@p.S96L 1 0.125 ENSG00000142235 chr19:48510097-48510097;G/A missense_variant False LMTK3@p.Y185D 1 0.090909091 ENSG00000142235 chr19:48508855-48508855;A/C missense_variant False LMX1A@p.S346C 1 0.08490566 ENSG00000162761 chr1:165203993-165203993;T/A missense_variant False LMX1B@p.R221L 1 0.25 ENSG00000136944 chr9:126693244-126693244;G/T missense_variant False LMX1B@p.R249P 1 0.545454545 ENSG00000136944 chr9:126693528-126693528;G/C missense_variant False LNPEP@p.F496L 1 0.333333333 ENSG00000113441 chr5:96996470-96996470;C/G missense_variant False LNPEP@p.N145K 1 0.478991597 ENSG00000113441 chr5:96979553-96979553;C/A missense_variant False HOXB5@p.V56F 1 0.25 ENSG00000120075 chr17:48593517-48593517;C/A missense_variant False HOXB4@p.S165A 1 0.532608696 ENSG00000182742 chr17:48576985-48576985;A/C missense_variant False DYRK1A@p.P574A 1 0.369747899 ENSG00000157540 chr21:37511959-37511959;C/G missense_variant False FAT1@p.P3827S 1 0.261904762 ENSG00000083857 chr4:186602906-186602906;G/A missense_variant False FAT1@p.T1428Sfs*20 1 0.363207547 ENSG00000083857 chr4:186633725-186633726;-/GA frameshift_variant False FAT1@p.S2713L 1 0.32231405 ENSG00000083857 chr4:186618448-186618448;G/A missense_variant False FAT1@p.S2565L 1 0.214285714 ENSG00000083857 chr4:186618892-186618892;G/A missense_variant False FAT1@p.S1357L 1 0.222222222 ENSG00000083857 chr4:186636138-186636138;G/A missense_variant False FAT1@p.Q3902E 1 0.133333333 ENSG00000083857 chr4:186600297-186600297;G/C missense_variant False FAT1@p.P4030S 1 0.257142857 ENSG00000083857 chr4:186599913-186599913;G/A missense_variant False FAT1@p.P3129A 1 0.060606061 ENSG00000083857 chr4:186613187-186613187;G/C missense_variant False FAT1@p.V3790L 1 0.069306931 ENSG00000083857 chr4:186603017-186603017;C/G missense_variant False FAT1@p.P1560L 1 0.25 ENSG00000083857 chr4:186628285-186628285;G/A missense_variant False FAT1@p.L3982F 1 0.338709677 ENSG00000083857 chr4:186600055-186600055;C/G missense_variant False FAT1@p.L3085Pfs*2 1 0.139534884 ENSG00000083857 chr4:186613318-186613319;-/G frameshift_variant False FAT1@p.I3956M 1 0.138888889 ENSG00000083857 chr4:186600133-186600133;G/C missense_variant False FAT1@p.I3631M 1 0.725 ENSG00000083857 chr4:186603633-186603633;G/C missense_variant False FAT1@p.I2135N 1 0.173076923 ENSG00000083857 chr4:186620182-186620182;A/T missense_variant False FAT1@p.T785A 1 0.234782609 ENSG00000083857 chr4:186707475-186707475;T/C missense_variant False FAT1@p.V638Gfs*38 1 0.31372549 ENSG00000083857 chr4:186707915-186707916;-/C frameshift_variant False FAT4@p.E221Q 1 0.333333333 ENSG00000196159 chr4:125317072-125317072;G/C missense_variant False FAT2@p.F2220L 1 0.198473282 ENSG00000086570 chr5:151544467-151544467;G/C missense_variant False FAT2@p.L1997F 1 0.5 ENSG00000086570 chr5:151545136-151545136;C/G missense_variant False FAT2@p.K2586_S2588del 1 0.277777778 ENSG00000086570 chr5:151543363-151543371;AGATGCTTT/- inframe_deletion False FAT2@p.I507S 1 0.274509804 ENSG00000086570 chr5:151567412-151567412;A/C missense_variant False FAT2@p.I1723M 1 0.352941176 ENSG00000086570 chr5:151545958-151545958;G/C missense_variant False FAT2@p.H3738Y 1 0.088888889 ENSG00000086570 chr5:151521381-151521381;G/A missense_variant False FAT2@p.G823V 1 0.3125 ENSG00000086570 chr5:151566464-151566464;C/A missense_variant False FAT2@p.E3641K 1 0.195652174 ENSG00000086570 chr5:151521672-151521672;C/T missense_variant False FAT1@p.Y1931Wfs*20 1 0.296296296 ENSG00000083857 chr4:186620787-186620794;AGTCTTGT/- frameshift_variant False FAT2@p.E2963Q 1 0.048192771 ENSG00000086570 chr5:151540719-151540719;C/G missense_variant False FAT2@p.D2800H 1 0.625 ENSG00000086570 chr5:151542729-151542729;C/G missense_variant False FAT2@p.C2442S 1 0.096774194 ENSG00000086570 chr5:151543802-151543802;C/G missense_variant False FAT1@p.Y997H 1 0.117647059 ENSG00000083857 chr4:186706839-186706839;A/G missense_variant False FAT1@p.Y500C 1 0.072 ENSG00000083857 chr4:186708329-186708329;T/C missense_variant False FAT1@p.Y2814Tfs*8 1 0.263636364 ENSG00000083857 chr4:186618125-186618146;TTTCAACAATGAATGCCTCATA/- frameshift_variant False FAT1@p.G493* 1 0.2375 ENSG00000083857 chr4:186708350-186708351;CC/- frameshift_variant False FAT1@p.G103E 1 0.322580645 ENSG00000083857 chr4:186709520-186709520;C/T missense_variant False FAT1@p.E4364K 1 0.169491525 ENSG00000083857 chr4:186595737-186595737;C/T missense_variant False FASTKD3@p.L488W 1 0.353982301 ENSG00000124279 chr5:7865959-7865959;A/C missense_variant False FASTKD5@p.E734Q 1 0.47107438 ENSG00000215251 chr20:3146871-3146871;C/G missense_variant False FASTKD3@p.S297R 1 0.160377358 ENSG00000124279 chr5:7867193-7867193;G/C missense_variant False FASTKD3@p.R538K 1 0.432692308 ENSG00000124279 chr5:7862909-7862909;C/T missense_variant False FASTKD3@p.R430T 1 0.156626506 ENSG00000124279 chr5:7866795-7866795;C/G missense_variant False FASTKD3@p.R336T 1 0.175257732 ENSG00000124279 chr5:7867077-7867077;C/G missense_variant False FASTKD3@p.Q308E 1 0.113360324 ENSG00000124279 chr5:7867162-7867162;G/C missense_variant False FASTKD3@p.H484Y 1 0.302631579 ENSG00000124279 chr5:7865972-7865972;G/A missense_variant False FAT1@p.E3558Lfs*17 1 0.545454545 ENSG00000083857 chr4:186603850-186603854;TATTC/- frameshift_variant False FASTKD3@p.E376Q 1 0.222222222 ENSG00000124279 chr5:7866958-7866958;C/G missense_variant False FASTKD3@p.E272K 1 0.168067227 ENSG00000124279 chr5:7867270-7867270;C/T missense_variant False FASTKD3@p.E169Q 1 0.213414634 ENSG00000124279 chr5:7867579-7867579;C/G missense_variant False FASTKD3@p.D596H 1 0.206896552 ENSG00000124279 chr5:7861247-7861247;C/G missense_variant False FASTKD2@p.E365K 1 0.218390805 ENSG00000118246 chr2:206771996-206771996;G/A missense_variant False FASTKD2@p.E278Q 1 0.147058824 ENSG00000118246 chr2:206770145-206770145;G/C missense_variant False FASTKD5@p.G378R 1 0.191860465 ENSG00000215251 chr20:3147939-3147939;C/T missense_variant False FASTKD5@p.L398V 1 0.571428571 ENSG00000215251 chr20:3147879-3147879;G/C missense_variant False FASTKD5@p.L537F 1 0.416666667 ENSG00000215251 chr20:3147462-3147462;G/A missense_variant False FASTKD5@p.L714V 1 0.096774194 ENSG00000215251 chr20:3146931-3146931;G/C missense_variant False FASTKD5@p.S142L 1 0.125 ENSG00000215251 chr20:3148646-3148646;G/A missense_variant False FAT1@p.A106T 1 0.557377049 ENSG00000083857 chr4:186709512-186709512;C/T missense_variant False FAT1@p.A1559T 1 0.25 ENSG00000083857 chr4:186628289-186628289;C/T missense_variant False FAT1@p.A3154T 1 0.148148148 ENSG00000083857 chr4:186613112-186613112;C/T missense_variant False FAT1@p.A67V 1 0.216666667 ENSG00000083857 chr4:186709628-186709628;G/A missense_variant False FAT1@p.A803Pfs*14 1 0.196428571 ENSG00000083857 chr4:186707418-186707421;CAGC/GG frameshift_variant False FAT1@p.D1448Rfs*4 1 0.233333333 ENSG00000083857 chr4:186628745-186628746;-/T frameshift_variant False FAT1@p.D2624Mfs*19 1 0.238095238 ENSG00000083857 chr4:186618716-186618716;C/- frameshift_variant False FAT1@p.D2835N 1 0.3 ENSG00000083857 chr4:186618083-186618083;C/T missense_variant False FAT1@p.D3309N 1 0.2 ENSG00000083857 chr4:186609944-186609944;C/T missense_variant False FAT1@p.E2294K 1 0.303797468 ENSG00000083857 chr4:186619706-186619706;C/T missense_variant False FAT1@p.E2894K 1 0.5 ENSG00000083857 chr4:186617906-186617906;C/T missense_variant False FAT1@p.E3136Q 1 0.363636364 ENSG00000083857 chr4:186613166-186613166;C/G missense_variant False FAT2@p.N409I 1 0.76744186 ENSG00000086570 chr5:151567706-151567706;T/A missense_variant False FAT2@p.P2669A 1 0.414893617 ENSG00000086570 chr5:151543122-151543122;G/C missense_variant False FAT2@p.Q1475E 1 0.098360656 ENSG00000086570 chr5:151550745-151550745;G/C missense_variant False FAT3@p.L1183V 1 0.431818182 ENSG00000165323 chr11:92524888-92524888;C/G missense_variant False FAT3@p.R2457W 1 0.448979592 ENSG00000165323 chr11:92800382-92800382;C/T missense_variant False FAT3@p.R1266C 1 0.097222222 ENSG00000165323 chr11:92761982-92761982;C/T missense_variant False FAT3@p.R1017Q 1 0.407407407 ENSG00000165323 chr11:92355162-92355162;G/A missense_variant False FAT3@p.Q2621E 1 0.238095238 ENSG00000165323 chr11:92800874-92800874;C/G missense_variant False FAT3@p.M2444L 1 0.5 ENSG00000165323 chr11:92800343-92800343;A/C missense_variant False FAT3@p.L2878F 1 0.293103448 ENSG00000165323 chr11:92801647-92801647;G/C missense_variant False FAT3@p.H2338Y 1 0.34 ENSG00000165323 chr11:92800025-92800025;C/T missense_variant False FAT3@p.E4538Q 1 0.2 ENSG00000165323 chr11:92891051-92891051;G/C missense_variant False FAT3@p.G2008R 1 0.175824176 ENSG00000165323 chr11:92799035-92799035;G/A missense_variant False FAT3@p.F4172L 1 0.368421053 ENSG00000165323 chr11:92882972-92882972;C/G missense_variant False FAT3@p.F3894L 1 0.423076923 ENSG00000165323 chr11:92866764-92866764;C/A missense_variant False FAT3@p.F3009C 1 0.355555556 ENSG00000165323 chr11:92805282-92805282;T/G missense_variant False FAT3@p.F2891L 1 0.333333333 ENSG00000165323 chr11:92801686-92801686;C/A missense_variant False FAT3@p.F1823Vfs*20 1 0.230769231 ENSG00000165323 chr11:92798472-92798473;-/A frameshift_variant False FAT3@p.S189C 1 0.209302326 ENSG00000165323 chr11:92352678-92352678;C/G missense_variant False FAT3@p.S1936C 1 0.480769231 ENSG00000165323 chr11:92798819-92798819;A/T missense_variant False FAT3@p.S1966C 1 0.369047619 ENSG00000165323 chr11:92798910-92798910;C/G missense_variant False FAT3@p.S1990L 1 0.397540984 ENSG00000165323 chr11:92798982-92798982;C/T missense_variant False FAT3@p.S2454C 1 0.155844156 ENSG00000165323 chr11:92800374-92800374;C/G missense_variant False FAT3@p.T1965I 1 0.368421053 ENSG00000165323 chr11:92798907-92798907;C/T missense_variant False FAT3@p.V2179I 1 0.133333333 ENSG00000165323 chr11:92799548-92799548;G/A missense_variant False FAT3@p.V491I 1 0.274509804 ENSG00000165323 chr11:92353583-92353583;G/A missense_variant False FAT3@p.Y2248C 1 0.692307692 ENSG00000165323 chr11:92799756-92799756;A/G missense_variant False FAT4@p.A3749D 1 0.123595506 ENSG00000196159 chr4:125452256-125452256;C/A missense_variant False FAT4@p.A423S 1 0.12 ENSG00000196159 chr4:125317678-125317678;G/T missense_variant False FAT4@p.D1162N 1 0.619469027 ENSG00000196159 chr4:125319895-125319895;G/A missense_variant False FAT4@p.D1323E 1 0.307692308 ENSG00000196159 chr4:125320380-125320380;T/A missense_variant False FAT4@p.D3065H 1 0.28125 ENSG00000196159 chr4:125450203-125450203;G/C missense_variant False FAT4@p.D3486Ifs*14 1 0.126262626 ENSG00000196159 chr4:125451464-125451464;T/- frameshift_variant False FAT4@p.D3804H 1 0.152173913 ENSG00000196159 chr4:125452420-125452420;G/C missense_variant False FAT4@p.E1431Q 1 0.06741573 ENSG00000196159 chr4:125320702-125320702;G/C missense_variant False FAT3@p.E854K 1 0.456140351 ENSG00000165323 chr11:92354672-92354672;G/A missense_variant False FAT3@p.E403Q 1 0.538461538 ENSG00000165323 chr11:92353319-92353319;G/C missense_variant False FAT2@p.Q1857K 1 0.368421053 ENSG00000086570 chr5:151545558-151545558;G/T missense_variant False FAT2@p.T3565S 1 0.272727273 ENSG00000086570 chr5:151521900-151521900;T/A missense_variant False FAT3@p.C8R 1 0.321428571 ENSG00000165323 chr11:92352134-92352134;T/C missense_variant False FAT3@p.C17R 1 0.217391304 ENSG00000165323 chr11:92352161-92352161;T/C missense_variant False FAT3@p.C1626Y 1 0.398550725 ENSG00000165323 chr11:92797890-92797890;G/A missense_variant False FAT2@p.V3619L 1 0.147058824 ENSG00000086570 chr5:151521738-151521738;C/A missense_variant False FAT2@p.V1858L 1 0.191011236 ENSG00000086570 chr5:151545555-151545555;C/G missense_variant False FAT2@p.V1036L 1 0.178571429 ENSG00000086570 chr5:151565826-151565826;C/A missense_variant False FAT2@p.T2472A 1 0.430769231 ENSG00000086570 chr5:151543713-151543713;T/C missense_variant False FAT3@p.E3040K 1 0.647058824 ENSG00000165323 chr11:92806386-92806386;G/A missense_variant False FAT2@p.S2093Y 1 0.278911565 ENSG00000086570 chr5:151544849-151544849;G/T missense_variant False FAT2@p.S1704C 1 0.435294118 ENSG00000086570 chr5:151546016-151546016;G/C missense_variant False FAT2@p.S1195C 1 0.446153846 ENSG00000086570 chr5:151556393-151556393;G/C missense_variant False FAT2@p.R1412K 1 0.333333333 ENSG00000086570 chr5:151551528-151551528;C/T missense_variant False FAT2@p.Q706E 1 0.116666667 ENSG00000086570 chr5:151566816-151566816;G/C missense_variant False FAT2@p.Q2288E 1 0.128712871 ENSG00000086570 chr5:151544265-151544265;G/C missense_variant False FAT3@p.D1071H 1 0.216216216 ENSG00000165323 chr11:92355323-92355323;G/C missense_variant False FAT3@p.D1095N 1 0.166666667 ENSG00000165323 chr11:92355395-92355395;G/A missense_variant False FAT3@p.D1512H 1 0.255813953 ENSG00000165323 chr11:92790141-92790141;G/C missense_variant False FAT3@p.D2187H 1 0.255813953 ENSG00000165323 chr11:92799572-92799572;G/C missense_variant False FAT3@p.D2282E 1 0.19047619 ENSG00000165323 chr11:92799859-92799859;C/A missense_variant False FAT3@p.D2626H 1 0.304347826 ENSG00000165323 chr11:92800889-92800889;G/C missense_variant False FAT3@p.D2768N 1 0.393939394 ENSG00000165323 chr11:92801315-92801315;G/A missense_variant False FAT3@p.D3441E 1 0.548387097 ENSG00000165323 chr11:92837761-92837761;C/A missense_variant False FAT3@p.D4378N 1 0.305555556 ENSG00000165323 chr11:92890571-92890571;G/A missense_variant False FAT3@p.D732H 1 0.252688172 ENSG00000165323 chr11:92354306-92354306;G/C missense_variant False FAT3@p.D962N 1 0.129032258 ENSG00000165323 chr11:92354996-92354996;G/A missense_variant False FAT3@p.E1522K 1 0.137254902 ENSG00000165323 chr11:92790171-92790171;G/A missense_variant False FAT3@p.E1913K 1 0.138888889 ENSG00000165323 chr11:92798750-92798750;G/A missense_variant False FAT3@p.E2317Q 1 0.111111111 ENSG00000165323 chr11:92799962-92799962;G/C missense_variant False FAT3@p.E2749K 1 0.3 ENSG00000165323 chr11:92801258-92801258;G/A missense_variant False FAT3@p.E279K 1 0.288135593 ENSG00000165323 chr11:92352947-92352947;G/A missense_variant False FAT3@p.E2900K 1 0.258333333 ENSG00000165323 chr11:92801711-92801711;G/A missense_variant False FASTKD1@p.S201Y 1 0.072727273 ENSG00000138399 chr2:169560756-169560756;G/T missense_variant False FASTKD1@p.K705Q 1 0.58 ENSG00000138399 chr2:169537302-169537302;T/G missense_variant False FASTKD1@p.K276R 1 0.458333333 ENSG00000138399 chr2:169560531-169560531;T/C missense_variant False FANCD2@p.S452L 1 0.256756757 ENSG00000144554 chr3:10047993-10047993;C/T missense_variant False FANCF@p.L15V 1 0.133333333 ENSG00000183161 chr11:22625768-22625768;G/C missense_variant False FANCF@p.G337V 1 0.066666667 ENSG00000183161 chr11:22624801-22624801;C/A missense_variant False FANCD2OS@p.S124L 1 0.108490566 ENSG00000163705 chr3:10104404-10104404;G/A missense_variant False FANCD2OS@p.H31L 1 0.443037975 ENSG00000163705 chr3:10104683-10104683;T/A missense_variant False FANCD2OS@p.G67E 1 0.215384615 ENSG00000163705 chr3:10104575-10104575;C/T missense_variant False FANCD2OS@p.G67A 1 0.241935484 ENSG00000163705 chr3:10104575-10104575;C/G missense_variant False FANCD2@p.S433L 1 0.141361257 ENSG00000144554 chr3:10047936-10047936;C/T missense_variant False FANCD2@p.F161V 1 0.183333333 ENSG00000144554 chr3:10036329-10036329;T/G missense_variant False FANCD2@p.R5T 1 0.0546875 ENSG00000144554 chr3:10028671-10028671;G/C missense_variant False FANCD2@p.R1236C 1 0.363636364 ENSG00000144554 chr3:10090314-10090314;C/T missense_variant False FANCD2@p.N746K 1 0.202247191 ENSG00000144554 chr3:10065463-10065463;C/A missense_variant False FANCD2@p.L497V 1 0.214492754 ENSG00000144554 chr3:10049449-10049449;C/G missense_variant False FANCD2@p.L436M 1 0.078947368 ENSG00000144554 chr3:10047944-10047944;C/A missense_variant False FANCD2@p.L312W 1 0.234042553 ENSG00000144554 chr3:10043096-10043096;T/G missense_variant False FANCF@p.S373F 1 0.446601942 ENSG00000183161 chr11:22624693-22624693;G/A missense_variant False FANCG@p.E219Q 1 0.17 ENSG00000221829 chr9:35077093-35077093;C/G missense_variant False FANCG@p.E324Q 1 0.12244898 ENSG00000221829 chr9:35076538-35076538;C/G missense_variant False FANCI@p.D640H 1 0.095238095 ENSG00000140525 chr15:89291640-89291640;G/C missense_variant False FANCI@p.D728H 1 0.245901639 ENSG00000140525 chr15:89292954-89292954;G/C missense_variant False FANCI@p.E1305K 1 0.436619718 ENSG00000140525 chr15:89315378-89315378;G/A missense_variant False FANCI@p.E648Q 1 0.198198198 ENSG00000140525 chr15:89291664-89291664;G/C missense_variant False FANCI@p.H98Y 1 0.093220339 ENSG00000140525 chr15:89261588-89261588;C/T missense_variant False FANCI@p.I1044L 1 0.310344828 ENSG00000140525 chr15:89305186-89305186;A/C missense_variant False FANCI@p.K679N 1 0.322580645 ENSG00000140525 chr15:89292732-89292732;G/C missense_variant False FANCI@p.L389F 1 0.054945055 ENSG00000140525 chr15:89276765-89276765;G/C missense_variant False FANCI@p.L8V 1 0.121495327 ENSG00000140525 chr15:89247669-89247669;C/G missense_variant False FANCI@p.N1193Ifs*6 1 0.169491525 ENSG00000140525 chr15:89307511-89307511;A/- frameshift_variant False FANCI@p.S1214C 1 0.236842105 ENSG00000140525 chr15:89307662-89307662;C/G missense_variant False FANCI@p.S1268C 1 0.307692308 ENSG00000140525 chr15:89314694-89314694;C/G missense_variant False FANCI@p.S659C 1 0.336734694 ENSG00000140525 chr15:89291698-89291698;C/G missense_variant False FANCI@p.S782F 1 0.092307692 ENSG00000140525 chr15:89293886-89293886;C/T missense_variant False FANCD2@p.G685A 1 0.22556391 ENSG00000144554 chr3:10064761-10064761;G/C missense_variant False FANCD2@p.E964K 1 0.118881119 ENSG00000144554 chr3:10078111-10078111;G/A missense_variant False FANCL@p.E209K 1 0.39516129 ENSG00000115392 chr2:58165790-58165790;C/T missense_variant False FANCA@p.E1431K 1 0.454545455 ENSG00000187741 chr16:89738678-89738678;C/T missense_variant False FANCA@p.R1439T 1 0.55 ENSG00000187741 chr16:89738653-89738653;C/G missense_variant False FANCA@p.P1222L 1 0.311111111 ENSG00000187741 chr16:89742900-89742900;G/A missense_variant False FANCA@p.M1024I 1 0.060606061 ENSG00000187741 chr16:89749897-89749897;C/G missense_variant False FANCA@p.L1401V 1 0.546099291 ENSG00000187741 chr16:89738941-89738941;G/C missense_variant False FANCA@p.E698K 1 0.32 ENSG00000187741 chr16:89771737-89771737;C/T missense_variant False FANCA@p.E630D 1 0.181818182 ENSG00000187741 chr16:89775752-89775752;C/G missense_variant False FANCA@p.E1310K 1 0.427083333 ENSG00000187741 chr16:89740000-89740000;C/T missense_variant False FANCD2@p.E1262D 1 0.171428571 ENSG00000144554 chr3:10092189-10092189;A/C missense_variant False FANCA@p.D1359E 1 0.30952381 ENSG00000187741 chr16:89739223-89739223;G/C missense_variant False FANCA@p.A1103D 1 0.13559322 ENSG00000187741 chr16:89748699-89748699;G/T missense_variant False FAN1@p.S220C 1 0.338709677 ENSG00000198690 chr15:30905322-30905322;C/G missense_variant False FAN1@p.Q182H 1 0.098765432 ENSG00000198690 chr15:30905209-30905209;G/C missense_variant False FAN1@p.G367D 1 0.215827338 ENSG00000198690 chr15:30905763-30905763;G/A missense_variant False FAN1@p.E461K 1 0.296296296 ENSG00000198690 chr15:30910619-30910619;G/A missense_variant False FANCA@p.S1264Y 1 0.444444444 ENSG00000187741 chr16:89740841-89740841;G/T missense_variant False FANCA@p.S947L 1 0.114035088 ENSG00000187741 chr16:89761961-89761961;G/A missense_variant False FANCB@p.F357S 1 0.203539823 ENSG00000181544 chrX:14859216-14859216;A/G missense_variant False FANCB@p.I601V 1 0.469135802 ENSG00000181544 chrX:14844982-14844982;T/C missense_variant False FANCB@p.R696_G698del 1 0.142857143 ENSG00000181544 chrX:14844572-14844580;CTTCCCGGT/- inframe_deletion False FANCB@p.V82M 1 0.175438596 ENSG00000181544 chrX:14865267-14865267;C/T missense_variant False FANCC@p.E380K 1 0.047904192 ENSG00000158169 chr9:95114645-95114645;C/T missense_variant False FANCC@p.E54Q 1 0.281818182 ENSG00000158169 chr9:95249132-95249132;C/G missense_variant False FANCC@p.F219L 1 0.470588235 ENSG00000158169 chr9:95149952-95149952;G/T missense_variant False FANCC@p.R185Q 1 0.285714286 ENSG00000158169 chr9:95150055-95150055;C/T missense_variant False FANCC@p.S264N 1 0.196078431 ENSG00000158169 chr9:95135398-95135398;C/T missense_variant False FANCC@p.V323G 1 0.111111111 ENSG00000158169 chr9:95125114-95125114;A/C missense_variant False FANCD2@p.D19Y 1 0.149253731 ENSG00000144554 chr3:10028712-10028712;G/T missense_variant False FANCD2@p.D466N 1 0.063829787 ENSG00000144554 chr3:10048034-10048034;G/A missense_variant False FANCD2@p.D753N 1 0.314285714 ENSG00000144554 chr3:10065482-10065482;G/A missense_variant False FANCD2@p.E1102K 1 0.162162162 ENSG00000144554 chr3:10085891-10085891;G/A missense_variant False FANCD2@p.E1173Q 1 0.351351351 ENSG00000144554 chr3:10088499-10088499;G/C missense_variant False FANCI@p.S999F 1 0.229508197 ENSG00000140525 chr15:89301432-89301432;C/T missense_variant False FANCL@p.I136M 1 0.117647059 ENSG00000115392 chr2:58204193-58204193;G/C missense_variant False FASTKD1@p.H727R 1 0.458333333 ENSG00000138399 chr2:169537235-169537235;T/C missense_variant False FARSB@p.M198I 1 0.073170732 ENSG00000116120 chr2:222634403-222634403;C/T missense_variant False FASN@p.D98H 1 0.226666667 ENSG00000169710 chr17:82093760-82093760;C/G missense_variant False FASN@p.D518Y 1 0.181818182 ENSG00000169710 chr17:82091010-82091010;C/A missense_variant False FASN@p.A2429T 1 0.255319149 ENSG00000169710 chr17:82079470-82079470;C/T missense_variant False FASLG@p.L251F 1 0.452631579 ENSG00000117560 chr1:172665921-172665921;C/T missense_variant False FAS@p.L179V 1 0.239669421 ENSG00000026103 chr10:89010782-89010782;C/G missense_variant False FARSB@p.R243T 1 0.217821782 ENSG00000116120 chr2:222631662-222631662;C/G missense_variant False FARSB@p.I511T 1 0.25 ENSG00000116120 chr2:222600014-222600014;A/G missense_variant False FARP2@p.E883Q 1 0.290909091 ENSG00000006607 chr2:241491539-241491539;G/C missense_variant False FARSB@p.H565Y 1 0.56097561 ENSG00000116120 chr2:222571948-222571948;G/A missense_variant False FARSA@p.W429C 1 0.173228346 ENSG00000179115 chr19:12924252-12924252;C/G missense_variant False FARSA@p.R231L 1 0.652173913 ENSG00000179115 chr19:12928568-12928568;C/A missense_variant False FARS2@p.V236G 1 0.396039604 ENSG00000145982 chr6:5404636-5404636;T/G missense_variant False FARP2@p.S1025N 1 0.303921569 ENSG00000006607 chr2:241494034-241494034;G/A missense_variant False FARP2@p.K276N 1 0.425531915 ENSG00000006607 chr2:241431735-241431735;G/C missense_variant False FASN@p.E2008K 1 0.192307692 ENSG00000169710 chr17:82082150-82082150;C/T missense_variant False FASN@p.E2431K 1 0.740740741 ENSG00000169710 chr17:82079464-82079464;C/T missense_variant False FASN@p.E481Q 1 0.538461538 ENSG00000169710 chr17:82091273-82091273;C/G missense_variant False FASN@p.E948Q 1 0.217391304 ENSG00000169710 chr17:82087978-82087978;C/G missense_variant False FASN@p.F745L 1 0.3125 ENSG00000169710 chr17:82089038-82089038;G/T missense_variant False FASN@p.P1630S 1 0.138888889 ENSG00000169710 chr17:82084265-82084265;G/A missense_variant False FASN@p.P966H 1 0.325 ENSG00000169710 chr17:82087831-82087831;G/T missense_variant False FASN@p.R49W 1 0.486842105 ENSG00000169710 chr17:82095455-82095455;G/A missense_variant False FASN@p.S1017L 1 0.092307692 ENSG00000169710 chr17:82087498-82087498;G/A missense_variant False FASN@p.Y1567C 1 0.181818182 ENSG00000169710 chr17:82084581-82084581;T/C missense_variant False FASTK@p.R130Q 1 0.090909091 ENSG00000164896 chr7:151079616-151079616;C/T missense_variant False FASTK@p.R356C 1 0.123076923 ENSG00000164896 chr7:151077754-151077754;G/A missense_variant False FASTK@p.S31L 1 0.375 ENSG00000164896 chr7:151079913-151079913;G/A missense_variant False FASTK@p.S41C 1 0.45 ENSG00000164896 chr7:151079883-151079883;G/C missense_variant False FASTKD1@p.D114N 1 0.24 ENSG00000138399 chr2:169571690-169571690;C/T missense_variant False FASTKD1@p.D178N 1 0.23255814 ENSG00000138399 chr2:169563265-169563265;C/T missense_variant False FASTKD1@p.H302Y 1 0.070945946 ENSG00000138399 chr2:169560454-169560454;G/A missense_variant False FARP2@p.F341L 1 0.305555556 ENSG00000006607 chr2:241434313-241434313;C/G missense_variant False FARP2@p.E287Q 1 0.35 ENSG00000006607 chr2:241431766-241431766;G/C missense_variant False FANCL@p.T4S 1 0.416666667 ENSG00000115392 chr2:58241304-58241304;T/A missense_variant False FANCM@p.N88I 1 0.108695652 ENSG00000187790 chr14:45136294-45136294;A/T missense_variant False FANCM@p.S734C 1 0.319444444 ENSG00000187790 chr14:45173095-45173095;C/G missense_variant False FANCM@p.S381L 1 0.531914894 ENSG00000187790 chr14:45154011-45154011;C/T missense_variant False FANCM@p.S1527L 1 0.314285714 ENSG00000187790 chr14:45185281-45185281;C/T missense_variant False FANCM@p.R654W 1 0.23655914 ENSG00000187790 chr14:45167121-45167121;C/T missense_variant False FANCM@p.P1726A 1 0.251533742 ENSG00000187790 chr14:45189198-45189198;C/G missense_variant False FANCM@p.N88Y 1 0.117021277 ENSG00000187790 chr14:45136293-45136293;A/T missense_variant False FANCM@p.N401Mfs*10 1 0.381578947 ENSG00000187790 chr14:45154710-45154710;A/- frameshift_variant False FARP2@p.D987N 1 0.378378378 ENSG00000006607 chr2:241493356-241493356;G/A missense_variant False FANCM@p.K1164N 1 0.408 ENSG00000187790 chr14:45176246-45176246;A/C missense_variant False FANCM@p.G80R 1 0.197530864 ENSG00000187790 chr14:45136269-45136269;G/C missense_variant False FANCM@p.E417Q 1 0.196721311 ENSG00000187790 chr14:45154762-45154762;G/C missense_variant False FANCM@p.E1971K 1 0.864864865 ENSG00000187790 chr14:45198838-45198838;G/A missense_variant False FANCM@p.E1143K 1 0.126213592 ENSG00000187790 chr14:45176181-45176181;G/A missense_variant False FANCM@p.D1682H 1 0.05 ENSG00000187790 chr14:45189066-45189066;G/C missense_variant False FANK1@p.D322H 1 0.246987952 ENSG00000203780 chr10:126009258-126009258;G/C missense_variant False FANK1@p.E331K 1 0.333333333 ENSG00000203780 chr10:126009391-126009391;G/A missense_variant False FANK1@p.E331Q 1 0.256756757 ENSG00000203780 chr10:126009391-126009391;G/C missense_variant False FANK1@p.S252C 1 0.26984127 ENSG00000203780 chr10:126008456-126008456;C/G missense_variant False FAP@p.C23Y 1 0.214285714 ENSG00000078098 chr2:162242931-162242931;C/T missense_variant False FAP@p.P179L 1 0.480662983 ENSG00000078098 chr2:162219134-162219134;G/A missense_variant False FAP@p.P179S 1 0.414285714 ENSG00000078098 chr2:162219135-162219135;G/A missense_variant False FAP@p.Q539E 1 0.272727273 ENSG00000078098 chr2:162189107-162189107;G/C missense_variant False FAP@p.S342R 1 0.08 ENSG00000078098 chr2:162209973-162209973;G/T missense_variant False FAP@p.Y79F 1 0.411764706 ENSG00000078098 chr2:162225532-162225532;T/A missense_variant False FAR1@p.H385Y 1 0.25 ENSG00000197601 chr11:13721755-13721755;C/T missense_variant False FAR1@p.S398Y 1 0.421052632 ENSG00000197601 chr11:13721795-13721795;C/A missense_variant False FAR2@p.F394L 1 0.195121951 ENSG00000064763 chr12:29321849-29321849;C/A missense_variant False FAR2@p.T512M 1 0.265060241 ENSG00000064763 chr12:29333781-29333781;C/T missense_variant False FARP1@p.E452K 1 0.425 ENSG00000152767 chr13:98395416-98395416;G/A missense_variant False FARP1@p.P35T 1 0.15625 ENSG00000152767 chr13:98213345-98213345;C/A missense_variant False FARP1@p.S896L 1 0.104166667 ENSG00000152767 chr13:98440727-98440727;C/T missense_variant False FAT4@p.E1609K 1 0.051020408 ENSG00000196159 chr4:125321236-125321236;G/A missense_variant False FAT4@p.E2573K 1 0.30952381 ENSG00000196159 chr4:125448727-125448727;G/A missense_variant False FAM9C@p.V43E 1 0.245614035 ENSG00000187268 chrX:13043182-13043182;A/T missense_variant False FBXL19@p.E235Q 1 0.523809524 ENSG00000099364 chr16:30928482-30928482;G/C missense_variant False FBXL2@p.E107K 1 0.313131313 ENSG00000153558 chr3:33373120-33373120;G/A missense_variant False FBXL22@p.R218K 1 0.714285714 ENSG00000197361 chr15:63601595-63601595;G/A missense_variant False FBXL20@p.Q270E 1 0.184615385 ENSG00000108306 chr17:39274989-39274989;G/C missense_variant False FBXL19@p.S340L 1 0.148148148 ENSG00000099364 chr16:30930242-30930242;C/T missense_variant False FBXL19@p.S337L 1 0.223880597 ENSG00000099364 chr16:30930233-30930233;C/T missense_variant False FBXL19@p.S328L 1 0.375796178 ENSG00000099364 chr16:30930206-30930206;C/T missense_variant False FBXL18@p.D433N 1 0.368421053 ENSG00000155034 chr7:5500972-5500972;C/T missense_variant False FBXL2@p.N51K 1 0.108695652 ENSG00000153558 chr3:33359315-33359315;C/G missense_variant False FBXL17@p.G634E 1 0.223776224 ENSG00000145743 chr5:107881101-107881101;C/T missense_variant False FBXL17@p.D581N 1 0.118644068 ENSG00000145743 chr5:108186121-108186121;C/T missense_variant False FBXL17@p.D581H 1 0.232876712 ENSG00000145743 chr5:108186121-108186121;C/G missense_variant False FBXL16@p.S328L 1 0.16 ENSG00000127585 chr16:695574-695574;G/A missense_variant False FBXL16@p.L427M 1 0.142857143 ENSG00000127585 chr16:694646-694646;G/T missense_variant False FBXL14@p.S219F 1 0.142857143 ENSG00000171823 chr12:1593411-1593411;G/A missense_variant False FBXL2@p.E363Q 1 0.067226891 ENSG00000153558 chr3:33384124-33384124;G/C missense_variant False FBXL2@p.P402L 1 0.129370629 ENSG00000153558 chr3:33385541-33385541;C/T missense_variant False FAT4@p.F1177L 1 0.056603774 ENSG00000196159 chr4:125319940-125319940;T/C missense_variant False FBXL5@p.E93K 1 0.3 ENSG00000118564 chr4:15644516-15644516;C/T missense_variant False FBXL7@p.D365N 1 0.152173913 ENSG00000183580 chr5:15936803-15936803;G/A missense_variant False FBXL7@p.C375R 1 0.384615385 ENSG00000183580 chr5:15936833-15936833;T/C missense_variant False FBXL6@p.Q436K 1 0.367567568 ENSG00000182325 chr8:144356134-144356134;G/T missense_variant False FBXL5@p.S81C 1 0.2 ENSG00000118564 chr4:15644551-15644551;G/C missense_variant False FBXL5@p.S649L 1 0.222222222 ENSG00000118564 chr4:15612319-15612319;G/A missense_variant False FBXL5@p.S428L 1 0.101123596 ENSG00000118564 chr4:15625819-15625819;G/A missense_variant False FBXL5@p.E265K 1 0.34 ENSG00000118564 chr4:15630765-15630765;C/T missense_variant False FBXL2@p.P402S 1 0.133333333 ENSG00000153558 chr3:33385540-33385540;C/T missense_variant False FBXL4@p.H64R 1 0.920454545 ENSG00000112234 chr6:98926798-98926798;T/C missense_variant False FBXL4@p.F419S 1 0.090909091 ENSG00000112234 chr6:98899329-98899329;A/G missense_variant False FBXL4@p.F419L 1 0.123809524 ENSG00000112234 chr6:98899328-98899328;G/C missense_variant False FBXL3@p.L53V 1 0.315436242 ENSG00000005812 chr13:77021704-77021704;G/C missense_variant False FBXL3@p.F294C 1 0.591836735 ENSG00000005812 chr13:77007551-77007551;A/C missense_variant False FBXL2@p.Q168H 1 0.597402597 ENSG00000153558 chr3:33373626-33373626;G/C missense_variant False FBXL14@p.S134R 1 0.484210526 ENSG00000171823 chr12:1593665-1593665;G/T missense_variant False FBXL14@p.R56G 1 0.333333333 ENSG00000171823 chr12:1593901-1593901;G/C missense_variant False FBXL14@p.L304Wfs*47 1 0.390243902 ENSG00000171823 chr12:1593158-1593158;C/- frameshift_variant False FBN3@p.C2192S 1 0.06557377 ENSG00000142449 chr19:8087869-8087869;C/G missense_variant False FBN3@p.H2257Q 1 0.104575163 ENSG00000142449 chr19:8086309-8086309;G/T missense_variant False FBN3@p.G2771E 1 0.188405797 ENSG00000142449 chr19:8066037-8066037;C/T missense_variant False FBN3@p.E653K 1 0.12 ENSG00000142449 chr19:8131587-8131587;C/T missense_variant False FBN3@p.E1932Q 1 0.089552239 ENSG00000142449 chr19:8094557-8094557;C/G missense_variant False FBN3@p.E1569Q 1 0.092105263 ENSG00000142449 chr19:8106216-8106216;C/G missense_variant False FBN3@p.D1779N 1 0.208333333 ENSG00000142449 chr19:8096959-8096959;C/T missense_variant False FBN3@p.C2141S 1 0.15625 ENSG00000142449 chr19:8088135-8088135;A/T missense_variant False FBXL13@p.S338P 1 0.046875 ENSG00000161040 chr7:102884309-102884309;A/G missense_variant False FBN3@p.A480T 1 0.49122807 ENSG00000142449 chr19:8136217-8136217;C/T missense_variant False FBN3@p.A2729S 1 0.153846154 ENSG00000142449 chr19:8066164-8066164;C/A missense_variant False FBN2@p.T2538K 1 0.096774194 ENSG00000138829 chr5:128274665-128274665;G/T missense_variant False FBN2@p.S597T 1 0.320652174 ENSG00000138829 chr5:128377811-128377811;C/G missense_variant False FBN2@p.S2178N 1 0.354330709 ENSG00000138829 chr5:128289231-128289231;C/T missense_variant False FBN2@p.R64C 1 0.285714286 ENSG00000138829 chr5:128537414-128537414;G/A missense_variant False FBN3@p.P275A 1 0.406779661 ENSG00000142449 chr19:8141759-8141759;G/C missense_variant False FBN3@p.R1205H 1 0.505882353 ENSG00000142449 chr19:8116772-8116772;C/T missense_variant False FBN3@p.R1516Q 1 0.152173913 ENSG00000142449 chr19:8109298-8109298;C/T missense_variant False FBN3@p.S429Y 1 0.34939759 ENSG00000142449 chr19:8136447-8136447;G/T missense_variant False FBN3@p.T578M 1 0.625 ENSG00000142449 chr19:8131811-8131811;G/A missense_variant False FBN3@p.V1168M 1 0.183406114 ENSG00000142449 chr19:8117253-8117253;C/T missense_variant False FBN3@p.V2742I 1 0.351648352 ENSG00000142449 chr19:8066125-8066125;C/T missense_variant False FBP1@p.L326I 1 0.476190476 ENSG00000165140 chr9:94603422-94603422;G/T missense_variant False FBP1@p.V303L 1 0.222222222 ENSG00000165140 chr9:94603491-94603491;C/A missense_variant False FBP2@p.P240S 1 0.078947368 ENSG00000130957 chr9:94563449-94563449;G/A missense_variant False FBP2@p.R277W 1 0.388888889 ENSG00000130957 chr9:94559129-94559129;G/A missense_variant False FBXL12@p.D113Y 1 0.123076923 ENSG00000127452 chr19:9811540-9811540;C/A missense_variant False FBXL12@p.P266S 1 0.142857143 ENSG00000127452 chr19:9811081-9811081;G/A missense_variant False FBXL13@p.E149K 1 0.245901639 ENSG00000161040 chr7:103025113-103025113;C/T missense_variant False FBXL13@p.E625Q 1 0.22972973 ENSG00000161040 chr7:102822185-102822185;C/G missense_variant False FBXL13@p.H58Y 1 0.06779661 ENSG00000161040 chr7:103028645-103028645;G/A missense_variant False FBXL13@p.L226F 1 0.184210526 ENSG00000161040 chr7:102963579-102963579;C/G missense_variant False FBXL7@p.E12K 1 0.259090909 ENSG00000183580 chr5:15500710-15500710;G/A missense_variant False FBXL7@p.E162K 1 0.3 ENSG00000183580 chr5:15928246-15928246;G/A missense_variant False FBXL7@p.G388C 1 0.172413793 ENSG00000183580 chr5:15936872-15936872;G/T missense_variant False FBXO31@p.A514V 1 0.272727273 ENSG00000103264 chr16:87331367-87331367;G/A missense_variant False FBXO34@p.D281H 1 0.516666667 ENSG00000178974 chr14:55351231-55351231;G/C missense_variant False FBXO34@p.D144H 1 0.136363636 ENSG00000178974 chr14:55350820-55350820;G/C missense_variant False FBXO33@p.H511Y 1 0.27027027 ENSG00000165355 chr14:39399653-39399653;G/A missense_variant False FBXO32@p.G185S 1 0.4 ENSG00000156804 chr8:123513296-123513296;C/T missense_variant False FBXO32@p.D312H 1 0.169491525 ENSG00000156804 chr8:123504648-123504648;C/G missense_variant False FBXO31@p.E502Q 1 0.375 ENSG00000103264 chr16:87331404-87331404;C/G missense_variant False FBXO31@p.A434S 1 0.083333333 ENSG00000103264 chr16:87333983-87333983;C/A missense_variant False FBXO28@p.K368N 1 0.212121212 ENSG00000143756 chr1:224157743-224157743;G/C missense_variant False FBXO30@p.R205T 1 0.142011834 ENSG00000118496 chr6:145805792-145805792;C/G missense_variant False FBXO30@p.G588A 1 0.146788991 ENSG00000118496 chr6:145804643-145804643;C/G missense_variant False FBXO30@p.D147N 1 0.576923077 ENSG00000118496 chr6:145805967-145805967;C/T missense_variant False FBXO30@p.D128H 1 0.2 ENSG00000118496 chr6:145806024-145806024;C/G missense_variant False FBXO30@p.C570F 1 0.5 ENSG00000118496 chr6:145804697-145804697;C/A missense_variant False FBXO28@p.S135L 1 0.461538462 ENSG00000143756 chr1:224134100-224134100;C/T missense_variant False FBXO34@p.E298Q 1 0.114285714 ENSG00000178974 chr14:55351282-55351282;G/C missense_variant False FBXO34@p.F122L 1 0.406779661 ENSG00000178974 chr14:55350756-55350756;C/G missense_variant False FBXO34@p.F123L 1 0.101694915 ENSG00000178974 chr14:55350759-55350759;T/A missense_variant False FBXO34@p.G300R 1 0.337209302 ENSG00000178974 chr14:55351288-55351288;G/A missense_variant False FBXO34@p.G379A 1 0.215909091 ENSG00000178974 chr14:55351526-55351526;G/C missense_variant False FBXO34@p.I64M 1 0.324022346 ENSG00000178974 chr14:55350582-55350582;C/G missense_variant False FBXO34@p.P16L 1 0.25 ENSG00000178974 chr14:55350437-55350437;C/T missense_variant False FBXO34@p.Q467P 1 0.116071429 ENSG00000178974 chr14:55351790-55351790;A/C missense_variant False FBXO34@p.R437T 1 0.105691057 ENSG00000178974 chr14:55351700-55351700;G/C missense_variant False FBXO34@p.R648L 1 0.673469388 ENSG00000178974 chr14:55352333-55352333;G/T missense_variant False FBXO34@p.R648Q 1 0.328571429 ENSG00000178974 chr14:55352333-55352333;G/A missense_variant False FBXO34@p.S506L 1 0.183673469 ENSG00000178974 chr14:55351907-55351907;C/T missense_variant False FBXO38@p.D1186N 1 0.125 ENSG00000145868 chr5:148442136-148442136;G/A missense_variant False FBXO38@p.D75N 1 0.288888889 ENSG00000145868 chr5:148399093-148399093;G/A missense_variant False FBXO38@p.E133Q 1 0.158878505 ENSG00000145868 chr5:148402116-148402116;G/C missense_variant False FBXO38@p.E853K 1 0.162162162 ENSG00000145868 chr5:148427851-148427851;G/A missense_variant False FBXO38@p.H163Ffs*6 1 0.255813953 ENSG00000145868 chr5:148402407-148402411;TCATA/- frameshift_variant False FBXO28@p.R93T 1 0.085714286 ENSG00000143756 chr1:224130482-224130482;G/C missense_variant False FBXO28@p.G333A 1 0.194444444 ENSG00000143756 chr1:224157637-224157637;G/C missense_variant False FBXL7@p.G419V 1 0.323529412 ENSG00000183580 chr5:15936966-15936966;G/T missense_variant False FBXO10@p.E413Q 1 0.909090909 ENSG00000147912 chr9:37537292-37537292;C/G missense_variant False FBXO11@p.R861Q 1 0.5 ENSG00000138081 chr2:47808401-47808401;C/T missense_variant False FBXO11@p.R263K 1 0.783783784 ENSG00000138081 chr2:47834801-47834801;C/T missense_variant False FBXO11@p.E483V 1 0.401960784 ENSG00000138081 chr2:47823311-47823311;T/A missense_variant False FBXO11@p.E227K 1 0.20212766 ENSG00000138081 chr2:47835910-47835910;C/T missense_variant False FBXO11@p.D285N 1 0.357142857 ENSG00000138081 chr2:47834660-47834660;C/T missense_variant False FBXO10@p.F896L 1 0.235 ENSG00000147912 chr9:37515912-37515912;G/C missense_variant False FBXO10@p.E339Q 1 0.263157895 ENSG00000147912 chr9:37537514-37537514;C/G missense_variant False FBXO28@p.E147Q 1 0.257142857 ENSG00000143756 chr1:224134135-224134135;G/C missense_variant False FBXL7@p.S76F 1 0.296296296 ENSG00000183580 chr5:15927989-15927989;C/T missense_variant False FBXL7@p.R432G 1 0.226804124 ENSG00000183580 chr5:15937004-15937004;C/G missense_variant False FBXL7@p.R155T 1 0.52173913 ENSG00000183580 chr5:15928226-15928226;G/C missense_variant False FBXL7@p.P99A 1 0.388888889 ENSG00000183580 chr5:15928057-15928057;C/G missense_variant False FBXL7@p.L381F 1 0.558139535 ENSG00000183580 chr5:15936851-15936851;C/T missense_variant False FBXL7@p.K263E 1 0.344262295 ENSG00000183580 chr5:15936497-15936497;A/G missense_variant False FBXO15@p.G461V 1 0.162264151 ENSG00000141665 chr18:74073612-74073612;C/A missense_variant False FBXO17@p.E191D 1 0.540145985 ENSG00000269190 chr19:38945089-38945089;C/A missense_variant False FBXO17@p.Q223K 1 0.182481752 ENSG00000269190 chr19:38944995-38944995;G/T missense_variant False FBXO21@p.E441Q 1 0.355555556 ENSG00000135108 chr12:117165490-117165490;C/G missense_variant False FBXO21@p.E609Q 1 0.358974359 ENSG00000135108 chr12:117146149-117146149;C/G missense_variant False FBXO21@p.S46W 1 0.111111111 ENSG00000135108 chr12:117190320-117190320;G/C missense_variant False FBXO22@p.A132V 1 0.164705882 ENSG00000167196 chr15:75914137-75914137;C/T missense_variant False FBXO22@p.E91K 1 0.230769231 ENSG00000167196 chr15:75904621-75904621;G/A missense_variant False FBXO22@p.E9K 1 0.333333333 ENSG00000167196 chr15:75903988-75903988;G/A missense_variant False FBXO22@p.I249M 1 0.156862745 ENSG00000167196 chr15:75930002-75930002;C/G missense_variant False FBXO22@p.L146V 1 0.301369863 ENSG00000167196 chr15:75914178-75914178;C/G missense_variant False FBXO22@p.L354V 1 0.356164384 ENSG00000167196 chr15:75932950-75932950;T/G missense_variant False FBXO27@p.D134Y 1 0.356321839 ENSG00000161243 chr19:39031285-39031285;C/A missense_variant False FBXO27@p.F219L 1 0.477386935 ENSG00000161243 chr19:39026923-39026923;A/G missense_variant False FBXO27@p.Q165H 1 0.180851064 ENSG00000161243 chr19:39031106-39031106;C/G missense_variant False FBXO28@p.A144S 1 0.526315789 ENSG00000143756 chr1:224134126-224134126;G/T missense_variant False FBXO28@p.D300H 1 0.175 ENSG00000143756 chr1:224157537-224157537;G/C missense_variant False FBN2@p.Q2791H 1 0.418478261 ENSG00000138829 chr5:128259821-128259821;C/G missense_variant False FBN2@p.P740L 1 0.219047619 ENSG00000138829 chr5:128369211-128369211;G/A missense_variant False FBN2@p.I853M 1 0.789473684 ENSG00000138829 chr5:128357391-128357391;T/C missense_variant False FAT4@p.V3182L 1 0.088235294 ENSG00000196159 chr4:125450554-125450554;G/T missense_variant False FAXC@p.E333Q 1 0.106060606 ENSG00000146267 chr6:99281397-99281397;C/G missense_variant False FAU@p.P36S 1 0.058823529 ENSG00000149806 chr11:65121614-65121614;G/A missense_variant False FAU@p.E9V 1 0.102040816 ENSG00000149806 chr11:65121788-65121788;T/A missense_variant False FATE1@p.E153K 1 0.264150943 ENSG00000147378 chrX:151722664-151722664;G/A missense_variant False FAT4@p.Y4270H 1 0.264150943 ENSG00000196159 chr4:125481724-125481724;T/C missense_variant False FAT4@p.V396A 1 0.333333333 ENSG00000196159 chr4:125317598-125317598;T/C missense_variant False FAT4@p.T71I 1 0.455882353 ENSG00000196159 chr4:125316623-125316623;C/T missense_variant False FAT4@p.S2812C 1 0.204819277 ENSG00000196159 chr4:125449445-125449445;C/G missense_variant False FAT4@p.T2088I 1 0.527918782 ENSG00000196159 chr4:125415226-125415226;C/T missense_variant False FAT4@p.T1087S 1 0.275 ENSG00000196159 chr4:125319671-125319671;C/G missense_variant False FAT4@p.S978Y 1 0.282352941 ENSG00000196159 chr4:125319344-125319344;C/A missense_variant False FAT4@p.S4633W 1 0.206896552 ENSG00000196159 chr4:125490714-125490714;C/G missense_variant False FAT4@p.S4009R 1 0.142857143 ENSG00000196159 chr4:125468633-125468633;T/A missense_variant False FAT4@p.S32L 1 0.141414141 ENSG00000196159 chr4:125316506-125316506;C/T missense_variant False FAXC@p.H182Y 1 0.206896552 ENSG00000146267 chr6:99333406-99333406;G/A missense_variant False FAXC@p.R327W 1 0.088607595 ENSG00000146267 chr6:99281415-99281415;T/A missense_variant False FAXC@p.T66S 1 0.12195122 ENSG00000146267 chr6:99349177-99349177;T/A missense_variant False FAXDC2@p.M24I 1 0.315789474 ENSG00000170271 chr5:154834911-154834911;C/T missense_variant False FBF1@p.D279Y 1 0.555555556 ENSG00000188878 chr17:75925438-75925438;C/A missense_variant False FBF1@p.D344E 1 0.3 ENSG00000188878 chr17:75923536-75923536;G/T missense_variant False FBF1@p.E110K 1 0.108695652 ENSG00000188878 chr17:75928103-75928103;C/T missense_variant False FBF1@p.E363Q 1 0.222222222 ENSG00000188878 chr17:75923481-75923481;C/G missense_variant False FBF1@p.E592Q 1 0.36 ENSG00000188878 chr17:75920288-75920288;C/G missense_variant False FBF1@p.E626K 1 0.444444444 ENSG00000188878 chr17:75920020-75920020;C/T missense_variant False FBF1@p.E759D 1 0.355263158 ENSG00000188878 chr17:75917998-75917998;C/A missense_variant False FBF1@p.G216R 1 0.136363636 ENSG00000188878 chr17:75926334-75926334;C/T missense_variant False FBF1@p.G519A 1 0.115384615 ENSG00000188878 chr17:75921489-75921489;C/G missense_variant False FBF1@p.Q272H 1 0.533333333 ENSG00000188878 chr17:75926040-75926040;C/G missense_variant False FBF1@p.S1049F 1 0.255813953 ENSG00000188878 chr17:75913758-75913758;G/A missense_variant False FBF1@p.S1130C 1 0.307692308 ENSG00000188878 chr17:75910736-75910736;G/C missense_variant False FBF1@p.Y156C 1 0.272727273 ENSG00000188878 chr17:75926844-75926844;T/C missense_variant False FAT4@p.S3108F 1 0.552631579 ENSG00000196159 chr4:125450333-125450333;C/T missense_variant False FAT4@p.S2595C 1 0.214285714 ENSG00000196159 chr4:125448794-125448794;C/G missense_variant False FBH1@p.E323K 1 0.677777778 ENSG00000134452 chr10:5909241-5909241;G/A missense_variant False FAT4@p.K1377Nfs*12 1 0.166666667 ENSG00000196159 chr4:125320537-125320537;A/- frameshift_variant False FAT4@p.L976F 1 0.275 ENSG00000196159 chr4:125319337-125319337;C/T missense_variant False FAT4@p.L4955F 1 0.086956522 ENSG00000196159 chr4:125491679-125491679;C/T missense_variant False FAT4@p.L4525M 1 0.1375 ENSG00000196159 chr4:125490389-125490389;C/A missense_variant False FAT4@p.L1535R 1 0.202614379 ENSG00000196159 chr4:125321015-125321015;T/G missense_variant False FAT4@p.K2996N 1 0.472222222 ENSG00000196159 chr4:125449998-125449998;A/C missense_variant False FAT4@p.K2760N 1 0.206896552 ENSG00000196159 chr4:125449290-125449290;A/C missense_variant False FAT4@p.I497T 1 0.181818182 ENSG00000196159 chr4:125317901-125317901;T/C missense_variant False FAT4@p.S2539F 1 0.287878788 ENSG00000196159 chr4:125448626-125448626;C/T missense_variant False FAT4@p.I2934M 1 0.101265823 ENSG00000196159 chr4:125449812-125449812;C/G missense_variant False FAT4@p.G4788V 1 0.421052632 ENSG00000196159 chr4:125491179-125491179;G/T missense_variant False FAT4@p.G2314A 1 0.19047619 ENSG00000196159 chr4:125416545-125416545;G/C missense_variant False FAT4@p.G1782E 1 0.470588235 ENSG00000196159 chr4:125406917-125406917;G/A missense_variant False FAT4@p.G1570V 1 0.613445378 ENSG00000196159 chr4:125321120-125321120;G/T missense_variant False FAT4@p.F4745L 1 0.152173913 ENSG00000196159 chr4:125491051-125491051;C/A missense_variant False FAT4@p.M4869I 1 0.188679245 ENSG00000196159 chr4:125491423-125491423;G/T missense_variant False FAT4@p.P2374S 1 0.211764706 ENSG00000196159 chr4:125434346-125434346;C/T missense_variant False FAT4@p.P3070A 1 0.212121212 ENSG00000196159 chr4:125450218-125450218;C/G missense_variant False FAT4@p.P359S 1 0.090909091 ENSG00000196159 chr4:125317486-125317486;C/T missense_variant False FAT4@p.P3921S 1 0.238095238 ENSG00000196159 chr4:125452771-125452771;C/T missense_variant False FAT4@p.P4145H 1 0.080952381 ENSG00000196159 chr4:125477289-125477289;C/A missense_variant False FAT4@p.Q1063E 1 0.355263158 ENSG00000196159 chr4:125319598-125319598;C/G missense_variant False FAT4@p.Q2230K 1 0.308411215 ENSG00000196159 chr4:125415651-125415651;C/A missense_variant False FAT4@p.Q2418K 1 0.245283019 ENSG00000196159 chr4:125446345-125446345;C/A missense_variant False FAT4@p.Q297E 1 0.202380952 ENSG00000196159 chr4:125317300-125317300;C/G missense_variant False FAT4@p.Q2984E 1 0.352941176 ENSG00000196159 chr4:125449960-125449960;C/G missense_variant False FAT4@p.R4170C 1 0.25 ENSG00000196159 chr4:125479769-125479769;C/T missense_variant False FAT4@p.S1401L 1 0.041322314 ENSG00000196159 chr4:125320613-125320613;C/T missense_variant False FAT4@p.S1441L 1 0.210526316 ENSG00000196159 chr4:125320733-125320733;C/T missense_variant False FAT4@p.S1858C 1 0.105882353 ENSG00000196159 chr4:125408447-125408447;C/G missense_variant False FAT4@p.S2053F 1 0.206185567 ENSG00000196159 chr4:125415121-125415121;C/T missense_variant False FAT4@p.S2415L 1 0.11627907 ENSG00000196159 chr4:125446337-125446337;C/T missense_variant False FBH1@p.D249N 1 0.214285714 ENSG00000134452 chr10:5906624-5906624;G/A missense_variant False FBH1@p.E617Q 1 0.333333333 ENSG00000134452 chr10:5917480-5917480;G/C missense_variant False FBN2@p.H307D 1 0.193877551 ENSG00000138829 chr5:128446514-128446514;G/C missense_variant False FBN1@p.P399Q 1 0.206896552 ENSG00000166147 chr15:48516314-48516314;G/T missense_variant False FBN1@p.S293N 1 0.158536585 ENSG00000166147 chr15:48526240-48526240;C/T missense_variant False FBN1@p.S2361L 1 0.365853659 ENSG00000166147 chr15:48427689-48427689;G/A missense_variant False FBN1@p.R545C 1 0.383333333 ENSG00000166147 chr15:48510125-48510125;G/A missense_variant False FBN1@p.R38G 1 0.361111111 ENSG00000166147 chr15:48644658-48644658;T/C missense_variant False FBN1@p.R2239G 1 0.158536585 ENSG00000166147 chr15:48432890-48432890;T/C missense_variant False FBN1@p.Q708E 1 0.169117647 ENSG00000166147 chr15:48499030-48499030;G/C missense_variant False FBN1@p.P2121T 1 0.444444444 ENSG00000166147 chr15:48437340-48437340;G/T missense_variant False FBN1@p.F1517L 1 0.444444444 ENSG00000166147 chr15:48468445-48468445;A/G missense_variant False FBN1@p.N1256K 1 0.470149254 ENSG00000166147 chr15:48483888-48483888;A/T missense_variant False FBN1@p.M2864I 1 0.244897959 ENSG00000166147 chr15:48411014-48411014;C/G missense_variant False FBN1@p.L1979V 1 0.229508197 ENSG00000166147 chr15:48444643-48444643;G/C missense_variant False FBN1@p.H2871D 1 0.077922078 ENSG00000166147 chr15:48410995-48410995;G/C missense_variant False FBN1@p.G77R 1 0.111111111 ENSG00000166147 chr15:48613028-48613028;C/T missense_variant False FBN1@p.G1870E 1 0.4625 ENSG00000166147 chr15:48448830-48448830;C/T missense_variant False FBN1@p.S932L 1 0.257142857 ENSG00000166147 chr15:48492520-48492520;G/A missense_variant False FBN1@p.T2224N 1 0.254545455 ENSG00000166147 chr15:48432934-48432934;G/T missense_variant False FBN2@p.A1028V 1 0.1875 ENSG00000138829 chr5:128345491-128345491;G/A missense_variant False FBN2@p.C1434S 1 0.2 ENSG00000138829 chr5:128330617-128330617;C/G missense_variant False FBN2@p.C1833S 1 0.505494505 ENSG00000138829 chr5:128305874-128305874;A/T missense_variant False FBN2@p.D1493H 1 0.2 ENSG00000138829 chr5:128318996-128318996;C/G missense_variant False FBN2@p.D1694H 1 0.181818182 ENSG00000138829 chr5:128310103-128310103;C/G missense_variant False FBN2@p.D1858H 1 0.090909091 ENSG00000138829 chr5:128305613-128305613;C/G missense_variant False FBN2@p.D2215N 1 0.216216216 ENSG00000138829 chr5:128288552-128288552;C/T missense_variant False FBN2@p.E1036K 1 0.141176471 ENSG00000138829 chr5:128345468-128345468;C/T missense_variant False FBN2@p.E1144K 1 0.274193548 ENSG00000138829 chr5:128338975-128338975;C/T missense_variant False FBN2@p.E1286Q 1 0.112676056 ENSG00000138829 chr5:128335287-128335287;C/G missense_variant False FBN2@p.E1939K 1 0.871794872 ENSG00000138829 chr5:128303075-128303075;C/T missense_variant False FBN2@p.E2177Q 1 0.439655172 ENSG00000138829 chr5:128289235-128289235;C/G missense_variant False FBN2@p.E2306_G2309del 1 0.454545455 ENSG00000138829 chr5:128286804-128286815;CCCCTAGATTCA/- inframe_deletion False FBN2@p.E2423Q 1 0.276923077 ENSG00000138829 chr5:128278713-128278713;C/G missense_variant False FBN2@p.E252Q 1 0.220125786 ENSG00000138829 chr5:128464796-128464796;C/G missense_variant False FBN1@p.G1313R 1 0.099447514 ENSG00000166147 chr15:48481682-48481682;C/G missense_variant False FBN1@p.E2841Q 1 0.408450704 ENSG00000166147 chr15:48411085-48411085;C/G missense_variant False FBH1@p.F28L 1 0.392405063 ENSG00000134452 chr10:5903102-5903102;C/A missense_variant False FBLN1@p.E700D 1 0.493975904 ENSG00000077942 chr22:45600434-45600434;G/T missense_variant False FBLN2@p.P678L 1 0.269230769 ENSG00000163520 chr3:13618997-13618997;C/T missense_variant False FBLN1@p.R467Q 1 0.175675676 ENSG00000077942 chr22:45547163-45547163;G/A missense_variant False FBLN1@p.R191Q 1 0.127272727 ENSG00000077942 chr22:45533090-45533090;G/A missense_variant False FBLN1@p.R179S 1 0.397727273 ENSG00000077942 chr22:45531315-45531315;C/A missense_variant False FBLN1@p.Q148E 1 0.583333333 ENSG00000077942 chr22:45527967-45527967;C/G missense_variant False FBLN1@p.I633V 1 0.26035503 ENSG00000077942 chr22:45577033-45577033;A/G missense_variant False FBLN1@p.E196K 1 0.481481481 ENSG00000077942 chr22:45533104-45533104;G/A missense_variant False FBN1@p.E1894K 1 0.09 ENSG00000166147 chr15:48446814-48446814;C/T missense_variant False FBLN1@p.E172K 1 0.181818182 ENSG00000077942 chr22:45531294-45531294;G/A missense_variant False FBLN1@p.D585N 1 0.194029851 ENSG00000077942 chr22:45574566-45574566;G/A missense_variant False FBLIM1@p.R68K 1 0.181818182 ENSG00000162458 chr1:15765186-15765186;G/A missense_variant False FBLIM1@p.F295L 1 0.088607595 ENSG00000162458 chr1:15774791-15774791;C/G missense_variant False FBL@p.G167R 1 0.2 ENSG00000105202 chr19:39839085-39839085;C/T missense_variant False FBH1@p.N418Y 1 0.065217391 ENSG00000134452 chr10:5913787-5913787;A/T missense_variant False FBLN2@p.R585P 1 0.210526316 ENSG00000163520 chr3:13618100-13618100;G/C missense_variant False FBLN2@p.R585Q 1 0.282051282 ENSG00000163520 chr3:13618100-13618100;G/A missense_variant False FBLN2@p.R642L 1 0.271604938 ENSG00000163520 chr3:13618271-13618271;G/T missense_variant False FBLN2@p.R868C 1 0.2 ENSG00000163520 chr3:13629193-13629193;C/T missense_variant False FBLN5@p.E200K 1 0.274193548 ENSG00000140092 chr14:91891242-91891242;C/T missense_variant False FBLN5@p.I383Sfs*23 1 0.181818182 ENSG00000140092 chr14:91877526-91877526;C/- frameshift_variant False FBLN7@p.A243T 1 0.217391304 ENSG00000144152 chr2:112182847-112182847;G/A missense_variant False FBLN7@p.E234K 1 0.525 ENSG00000144152 chr2:112182820-112182820;G/A missense_variant False FBLN7@p.G377C 1 0.076335878 ENSG00000144152 chr2:112187315-112187315;G/T missense_variant False FBLN7@p.M325I 1 0.5 ENSG00000144152 chr2:112187161-112187161;G/A missense_variant False FBLN7@p.S314F 1 0.403846154 ENSG00000144152 chr2:112185333-112185333;C/T missense_variant False FBN1@p.A167T 1 0.12 ENSG00000166147 chr15:48596322-48596322;C/T missense_variant False FBN1@p.D732N 1 0.114754098 ENSG00000166147 chr15:48497365-48497365;C/T missense_variant False FBN1@p.D809N 1 0.385057471 ENSG00000166147 chr15:48495583-48495583;C/T missense_variant False FBN1@p.E1116Q 1 0.08490566 ENSG00000166147 chr15:48487429-48487429;C/G missense_variant False FBN1@p.E1160K 1 0.125 ENSG00000166147 chr15:48487186-48487186;C/T missense_variant False FBN1@p.E1651K 1 0.5 ENSG00000166147 chr15:48464013-48464013;C/T missense_variant False FAN1@p.E320Q 1 0.2 ENSG00000198690 chr15:30905621-30905621;G/C missense_variant False FAM9C@p.G162R 1 0.294117647 ENSG00000187268 chrX:13038458-13038458;C/G missense_variant False FBXO39@p.E74K 1 0.235294118 ENSG00000177294 chr17:6780088-6780088;G/A missense_variant False FAM135B@p.L460V 1 0.2125 ENSG00000147724 chr8:138153097-138153097;G/C missense_variant False FAM135B@p.Q24E 1 0.602040816 ENSG00000147724 chr8:138367914-138367914;G/C missense_variant False FAM135B@p.Q151K 1 0.21799308 ENSG00000147724 chr8:138250932-138250932;G/T missense_variant False FAM135B@p.Q1097Rfs*10 1 0.358490566 ENSG00000147724 chr8:138148678-138148678;T/- frameshift_variant False FAM135B@p.P716S 1 0.183673469 ENSG00000147724 chr8:138152329-138152329;G/A missense_variant False FAM135B@p.P549Qfs*3 1 0.306451613 ENSG00000147724 chr8:138152829-138152829;G/- frameshift_variant False FAM135B@p.P1065A 1 0.136363636 ENSG00000147724 chr8:138151282-138151282;G/C missense_variant False FAM135B@p.L460I 1 0.482142857 ENSG00000147724 chr8:138153097-138153097;G/T missense_variant False FAM135B@p.R948S 1 0.193548387 ENSG00000147724 chr8:138151631-138151631;C/A missense_variant False FAM135B@p.L359R 1 0.3 ENSG00000147724 chr8:138177374-138177374;A/C missense_variant False FAM135B@p.L1398V 1 0.093137255 ENSG00000147724 chr8:138132622-138132622;A/C missense_variant False FAM135B@p.L1157M 1 0.178082192 ENSG00000147724 chr8:138146030-138146030;G/T missense_variant False FAM135B@p.H662Y 1 0.277227723 ENSG00000147724 chr8:138152491-138152491;G/A missense_variant False FAM135B@p.E1087K 1 0.119047619 ENSG00000147724 chr8:138151216-138151216;C/T missense_variant False FAM135B@p.E1086K 1 0.344262295 ENSG00000147724 chr8:138151219-138151219;C/T missense_variant False FAM135B@p.R25I 1 0.08 ENSG00000147724 chr8:138367910-138367910;C/A missense_variant False FAM135B@p.S424N 1 0.4 ENSG00000147724 chr8:138153204-138153204;C/T missense_variant False FAM171A1@p.A52V 1 0.430232558 ENSG00000148468 chr10:15284048-15284048;G/A missense_variant False FAM13B@p.D354N 1 0.159090909 ENSG00000031003 chr5:137985376-137985376;C/T missense_variant False FAM13B@p.R155T 1 0.5 ENSG00000031003 chr5:138011852-138011852;C/G missense_variant False FAM13B@p.E82K 1 0.166666667 ENSG00000031003 chr5:138018428-138018428;C/T missense_variant False FAM13B@p.E784Q 1 0.134615385 ENSG00000031003 chr5:137943141-137943141;C/G missense_variant False FAM13B@p.E308K 1 0.289855072 ENSG00000031003 chr5:137987585-137987585;C/T missense_variant False FAM13B@p.E27K 1 0.658823529 ENSG00000031003 chr5:138019033-138019033;C/T missense_variant False FAM13B@p.E252K 1 0.21686747 ENSG00000031003 chr5:138007084-138007084;C/T missense_variant False FAM13A@p.S775C 1 0.265895954 ENSG00000138640 chr4:88747689-88747689;G/C missense_variant False FAM135B@p.S741R 1 0.28125 ENSG00000147724 chr8:138152252-138152252;G/C missense_variant False FAM13A@p.S644C 1 0.357142857 ENSG00000138640 chr4:88750433-88750433;G/C missense_variant False FAM13A@p.R1016T 1 0.31372549 ENSG00000138640 chr4:88728558-88728558;C/G missense_variant False FAM13A@p.Q387K 1 0.136363636 ENSG00000138640 chr4:88787865-88787865;G/T missense_variant False FAM13A@p.I219V 1 0.810810811 ENSG00000138640 chr4:88938192-88938192;T/C missense_variant False FAM13A@p.E159Q 1 0.222222222 ENSG00000138640 chr4:88991103-88991103;C/G missense_variant False FAM135B@p.Y216N 1 0.098484848 ENSG00000147724 chr8:138242965-138242965;A/T missense_variant False FAM135B@p.D1137N 1 0.106557377 ENSG00000147724 chr8:138148559-138148559;C/T missense_variant False FAM135A@p.L1355V 1 0.705882353 ENSG00000082269 chr6:70536357-70536357;C/G missense_variant False FAM135A@p.E349K 1 0.339622642 ENSG00000082269 chr6:70522528-70522528;G/A missense_variant False FAM120C@p.W844L 1 0.222222222 ENSG00000184083 chrX:54087861-54087861;C/A missense_variant False FAM124A@p.R163Q 1 0.666666667 ENSG00000150510 chr13:51251855-51251855;G/A missense_variant False FAM122C@p.S75T 1 0.214814815 None chrX:134829260-134829260;G/C missense_variant False FAM122C@p.M86T 1 0.8 None chrX:134845215-134845215;T/C missense_variant False FAM122B@p.P138T 1 0.157894737 None chrX:134787500-134787500;G/T missense_variant False FAM122A@p.E92K 1 0.265060241 None chr9:68780438-68780438;G/A missense_variant False FAM122A@p.E207K 1 0.18018018 None chr9:68780783-68780783;G/A missense_variant False FAM120C@p.S410C 1 0.246376812 ENSG00000184083 chrX:54136520-54136520;G/C missense_variant False FAM133B@p.E62K 1 0.166666667 ENSG00000234545 chr7:92579334-92579334;C/T missense_variant False FAM120C@p.R816Q 1 0.888888889 ENSG00000184083 chrX:54087945-54087945;C/T missense_variant False FAM120C@p.L763V 1 0.148148148 ENSG00000184083 chrX:54116570-54116570;G/C missense_variant False FAM120C@p.K730I 1 0.736842105 ENSG00000184083 chrX:54116668-54116668;T/A missense_variant False FAM120C@p.E646Q 1 0.466666667 ENSG00000184083 chrX:54132818-54132818;C/G missense_variant False FAM120C@p.E244K 1 0.169230769 ENSG00000184083 chrX:54159586-54159586;C/T missense_variant False FAM120B@p.S817F 1 0.191011236 ENSG00000112584 chr6:170388453-170388453;C/T missense_variant False FAM124A@p.R163W 1 1.0 ENSG00000150510 chr13:51251854-51251854;C/T missense_variant False FAM124A@p.R242G 1 0.833333333 ENSG00000150510 chr13:51252091-51252091;C/G missense_variant False FAM124A@p.R495L 1 0.37804878 ENSG00000150510 chr13:51281099-51281099;G/T missense_variant False FAM124A@p.V165M 1 0.470588235 ENSG00000150510 chr13:51251860-51251860;G/A missense_variant False FAM124B@p.E3K 1 0.12 ENSG00000124019 chr2:224401762-224401762;C/T missense_variant False FAM126A@p.E10K 1 0.224489796 None chr7:22991084-22991084;C/T missense_variant False FAM126A@p.E419Q 1 0.526315789 None chr7:22945900-22945900;C/G missense_variant False FAM126A@p.G156V 1 0.072164948 None chr7:22976756-22976756;C/A missense_variant False FAM126B@p.D292N 1 0.095652174 None chr2:200988379-200988379;C/T missense_variant False FAM126B@p.P412Qfs*6 1 0.118421053 None chr2:200981628-200981628;G/- frameshift_variant False FAM131A@p.E103Afs*3 1 0.356020942 ENSG00000175182 chr3:184342133-184342134;-/CTCATTG frameshift_variant False FAM131A@p.P77S 1 0.299270073 ENSG00000175182 chr3:184342062-184342062;C/T missense_variant False FAM131A@p.W107C 1 0.082758621 ENSG00000175182 chr3:184342154-184342154;G/C missense_variant False FAM131B@p.E131Q 1 0.139784946 ENSG00000159784 chr7:143357415-143357415;C/G missense_variant False FAM131B@p.M77I 1 0.142857143 ENSG00000159784 chr7:143358978-143358978;C/T missense_variant False FAM133A@p.E124K 1 0.384615385 ENSG00000179083 chrX:93709789-93709789;G/A missense_variant False FAM133A@p.L73H 1 0.333333333 ENSG00000179083 chrX:93709637-93709637;T/A missense_variant False FAM13C@p.P381L 1 0.098765432 ENSG00000148541 chr10:59262528-59262528;G/A missense_variant False FAM13C@p.S3C 1 0.5 ENSG00000148541 chr10:59362453-59362453;G/C missense_variant False FAM149A@p.P626S 1 0.28125 ENSG00000109794 chr4:186163593-186163593;C/T missense_variant False FAM161B@p.E682Q 1 0.060606061 ENSG00000156050 chr14:73934345-73934345;C/G missense_variant False FAM163B@p.K124N 1 0.156862745 ENSG00000196990 chr9:133579151-133579151;C/G missense_variant False FAM163A@p.F105V 1 0.282051282 ENSG00000143340 chr1:179813998-179813998;T/G missense_variant False FAM163A@p.E45K 1 0.431372549 ENSG00000143340 chr1:179813818-179813818;G/A missense_variant False FAM162B@p.P69L 1 0.4 ENSG00000183807 chr6:116765222-116765222;G/A missense_variant False FAM162A@p.V112Afs*16 1 0.139534884 ENSG00000114023 chr3:122407352-122407367;TGGTAGGATGCATCTT/- frameshift_variant False FAM162A@p.R57T 1 0.138888889 ENSG00000114023 chr3:122404270-122404270;G/C missense_variant False FAM161B@p.E272K 1 0.75 ENSG00000156050 chr14:73944635-73944635;C/T missense_variant False FAM161A@p.I472N 1 0.344262295 ENSG00000170264 chr2:61839589-61839589;A/T missense_variant False FAM161B@p.E244K 1 0.129032258 ENSG00000156050 chr14:73944719-73944719;C/T missense_variant False FAM161B@p.D540N 1 0.19760479 ENSG00000156050 chr14:73938084-73938084;C/T missense_variant False FAM161B@p.A592V 1 0.44 ENSG00000156050 chr14:73937681-73937681;G/A missense_variant False FAM161A@p.S140F 1 0.192307692 ENSG00000170264 chr2:61842125-61842125;G/A missense_variant False FAM161A@p.R354P 1 0.064705882 ENSG00000170264 chr2:61839943-61839943;C/G missense_variant False FAM161A@p.M535I 1 0.253588517 ENSG00000170264 chr2:61836088-61836088;C/A missense_variant False FAM166A@p.D243H 1 0.285714286 ENSG00000188163 chr9:137244662-137244662;C/G missense_variant False FAM166A@p.E113Q 1 0.138211382 ENSG00000188163 chr9:137245492-137245492;C/G missense_variant False FAM166A@p.F245L 1 0.586956522 ENSG00000188163 chr9:137244656-137244656;A/G missense_variant False FAM166A@p.L150F 1 0.210526316 ENSG00000188163 chr9:137245379-137245379;C/G missense_variant False FAM166A@p.P153R 1 0.430555556 ENSG00000188163 chr9:137245371-137245371;G/C missense_variant False FAM166A@p.Q179H 1 0.092592593 ENSG00000188163 chr9:137245204-137245204;C/G missense_variant False FAM166C@p.E146V 1 0.136363636 ENSG00000173557 chr2:26577604-26577604;A/T missense_variant False FAM166C@p.R107C 1 0.407407407 ENSG00000173557 chr2:26576146-26576146;C/T missense_variant False FAM167B@p.S26F 1 0.340425532 ENSG00000183615 chr1:32247498-32247498;C/T missense_variant False FAM168B@p.H114Y 1 0.468531469 ENSG00000152102 chr2:131055407-131055407;G/A missense_variant False FAM168B@p.T66Pfs*97 1 0.342857143 ENSG00000152102 chr2:131055655-131055655;G/- frameshift_variant False FAM169A@p.D634Y 1 0.209964413 ENSG00000198780 chr5:74781573-74781573;C/A missense_variant False FAM169A@p.E243K 1 0.247311828 ENSG00000198780 chr5:74805228-74805228;C/T missense_variant False FAM169A@p.S504C 1 0.37037037 ENSG00000198780 chr5:74781962-74781962;G/C missense_variant False FAM169A@p.S618C 1 0.130952381 ENSG00000198780 chr5:74781620-74781620;G/C missense_variant False FAM170A@p.D78E 1 0.14 ENSG00000164334 chr5:119633982-119633982;C/A missense_variant False FAM170A@p.E245K 1 0.189473684 ENSG00000164334 chr5:119634481-119634481;G/A missense_variant False FAM161A@p.K326T 1 0.192857143 ENSG00000170264 chr2:61840027-61840027;T/G missense_variant False FAM161A@p.E537Q 1 0.437086093 ENSG00000170264 chr2:61836084-61836084;C/G missense_variant False FAM149A@p.S516F 1 0.396551724 ENSG00000109794 chr4:186157664-186157664;C/T missense_variant False FAM155A@p.E169K 1 0.191011236 None chr13:107866092-107866092;C/T missense_variant False FAM160A2@p.E203Q 1 0.125786164 None chr11:6223780-6223780;C/G missense_variant False FAM160A2@p.A352T 1 0.415841584 None chr11:6222579-6222579;C/T missense_variant False FAM155A@p.S209G 1 0.074074074 None chr13:107865972-107865972;T/C missense_variant False FAM155A@p.R23Q 1 0.294117647 None chr13:107866529-107866529;C/T missense_variant False FAM155A@p.P101L 1 0.333333333 None chr13:107866295-107866295;G/A missense_variant False FAM155A@p.L248V 1 0.295857988 None chr13:107865855-107865855;G/C missense_variant False FAM153B@p.E294Q 1 0.243902439 None chr5:176108622-176108622;G/C missense_variant False FAM161A@p.E209K 1 0.137681159 ENSG00000170264 chr2:61840379-61840379;C/T missense_variant False FAM151B@p.L195I 1 0.180555556 ENSG00000152380 chr5:80522050-80522050;C/A missense_variant False FAM151A@p.T118Hfs*5 1 0.230769231 ENSG00000162391 chr1:54616083-54616084;-/G frameshift_variant False FAM151A@p.S532Y 1 0.220338983 ENSG00000162391 chr1:54609431-54609431;G/T missense_variant False FAM151A@p.E469K 1 0.428571429 ENSG00000162391 chr1:54609621-54609621;C/T missense_variant False FAM151A@p.E266Q 1 0.266666667 ENSG00000162391 chr1:54612490-54612490;C/G missense_variant False FAM151A@p.A580V 1 0.684210526 ENSG00000162391 chr1:54609287-54609287;G/A missense_variant False FAM160A2@p.G675R 1 0.390625 None chr11:6217563-6217563;C/G missense_variant False FAM160A2@p.L935V 1 0.190082645 None chr11:6211622-6211622;G/C missense_variant False FAM160A2@p.N71S 1 0.217391304 None chr11:6224175-6224175;T/C missense_variant False FAM160A2@p.R274Q 1 0.439461883 None chr11:6223195-6223195;C/T missense_variant False FAM160A2@p.R359Q 1 0.368421053 None chr11:6222557-6222557;C/T missense_variant False FAM160A2@p.R536Q 1 0.2 None chr11:6217979-6217979;C/T missense_variant False FAM160B1@p.D311H 1 0.333333333 None chr10:114843855-114843855;G/C missense_variant False FAM160B1@p.D733N 1 0.5 None chr10:114861439-114861439;G/A missense_variant False FAM160B1@p.F667S 1 0.245283019 None chr10:114860801-114860801;T/C missense_variant False FAM160B1@p.H230N 1 0.209302326 None chr10:114843098-114843098;C/A missense_variant False FAM160B1@p.H29Y 1 0.277777778 None chr10:114830891-114830891;C/T missense_variant False FAM160B1@p.S689C 1 0.464912281 None chr10:114860867-114860867;C/G missense_variant False FAM160B1@p.S762C 1 0.25862069 None chr10:114861527-114861527;C/G missense_variant False FAM160B2@p.E490K 1 0.140077821 None chr8:22100720-22100720;G/A missense_variant False FAM160B2@p.R732G 1 0.23255814 None chr8:22102893-22102893;C/G missense_variant False FAM160B2@p.V544A 1 0.266666667 None chr8:22101454-22101454;T/C missense_variant False FAM161A@p.D479H 1 0.111111111 ENSG00000170264 chr2:61839569-61839569;C/G missense_variant False FAM120B@p.S272L 1 0.144578313 ENSG00000112584 chr6:170318205-170318205;C/T missense_variant False FAM120B@p.N594S 1 0.520833333 ENSG00000112584 chr6:170323125-170323125;A/G missense_variant False FAM120B@p.I515V 1 0.108433735 ENSG00000112584 chr6:170318933-170318933;A/G missense_variant False FAAH@p.E348D 1 0.114942529 ENSG00000117480 chr1:46408551-46408551;G/C missense_variant False FAAP100@p.S493N 1 0.638297872 ENSG00000185504 chr17:81547604-81547604;C/T missense_variant False FAAP100@p.Q845H 1 0.291666667 ENSG00000185504 chr17:81540930-81540930;C/G missense_variant False FAAP100@p.C560Wfs*25 1 0.298507463 ENSG00000185504 chr17:81547402-81547403;-/CAGGCCGAGTC frameshift_variant False FAAH@p.S211C 1 0.13372093 ENSG00000117480 chr1:46405641-46405641;C/G missense_variant False FAAH@p.P311S 1 0.323943662 ENSG00000117480 chr1:46406348-46406348;C/T missense_variant False FAAH@p.G226V 1 0.121212121 ENSG00000117480 chr1:46405686-46405686;G/T missense_variant False FAAH2@p.I500M 1 0.325 ENSG00000165591 chrX:57488833-57488833;C/G missense_variant False F8@p.S1573C 1 0.368794326 ENSG00000185010 chrX:154929072-154929072;G/C missense_variant False FA2H@p.S165C 1 0.41025641 ENSG00000103089 chr16:74727256-74727256;G/C missense_variant False F9@p.Y391N 1 0.263157895 ENSG00000101981 chrX:139561856-139561856;T/A missense_variant False F9@p.M6I 1 0.171717172 ENSG00000101981 chrX:139530782-139530782;G/A missense_variant False F9@p.C69R 1 0.171428571 ENSG00000101981 chrX:139537126-139537126;T/C missense_variant False F8@p.V1157A 1 0.130081301 ENSG00000185010 chrX:154930320-154930320;A/G missense_variant False F8@p.S56C 1 0.147058824 ENSG00000185010 chrX:154999577-154999577;G/C missense_variant False FAAP20@p.L44Q 1 0.135135135 ENSG00000162585 chr1:2194065-2194065;A/T missense_variant False FAAP20@p.V178Dfs*? 1 0.176470588 ENSG00000162585 chr1:2189718-2189719;CA/- frameshift_variant False FAAP20@p.W180R 1 0.225806452 ENSG00000162585 chr1:2189714-2189714;A/G missense_variant False FAAP24@p.E124K 1 0.202531646 ENSG00000131944 chr19:32974186-32974186;G/A missense_variant False FABP12@p.S133L 1 0.24 ENSG00000197416 chr8:81525071-81525071;G/A missense_variant False FABP1@p.E103K 1 0.515151515 ENSG00000163586 chr2:88124520-88124520;C/T missense_variant False FABP1@p.F95L 1 0.118421053 ENSG00000163586 chr2:88124542-88124542;G/C missense_variant False FABP2@p.L37F 1 0.130434783 ENSG00000145384 chr4:119320799-119320799;C/A missense_variant False FABP5@p.D42N 1 0.215384615 ENSG00000164687 chr8:81283410-81283410;G/A missense_variant False FABP6@p.E11K 1 0.358778626 ENSG00000170231 chr5:160199137-160199137;G/A missense_variant False FABP9@p.E18Q 1 0.170588235 ENSG00000205186 chr8:81461472-81461472;C/G missense_variant False FABP9@p.E88Q 1 0.367647059 ENSG00000205186 chr8:81458688-81458688;C/G missense_variant False FABP9@p.R107T 1 0.357142857 ENSG00000205186 chr8:81458630-81458630;C/G missense_variant False FABP9@p.R127T 1 0.242424242 ENSG00000205186 chr8:81458402-81458402;C/G missense_variant False FABP9@p.T74I 1 0.136 ENSG00000205186 chr8:81459190-81459190;G/A missense_variant False FADD@p.L36P 1 0.538461538 ENSG00000168040 chr11:70203566-70203566;T/C missense_variant False FADD@p.S69F 1 0.180327869 ENSG00000168040 chr11:70203665-70203665;C/T missense_variant False F8@p.S332C 1 0.151515152 ENSG00000185010 chrX:154969345-154969345;G/C missense_variant False F8@p.Q353K 1 0.306451613 ENSG00000185010 chrX:154966640-154966640;G/T missense_variant False FADS2@p.K251N 1 0.141304348 ENSG00000134824 chr11:61857019-61857019;G/C missense_variant False F5@p.R729T 1 0.158798283 ENSG00000198734 chr1:169542904-169542904;C/G missense_variant False F7@p.E330K 1 0.184210526 ENSG00000057593 chr13:113118595-113118595;G/A missense_variant False F7@p.D183H 1 0.64 ENSG00000057593 chr13:113115776-113115776;G/C missense_variant False F5@p.S822F 1 0.160583942 ENSG00000198734 chr1:169542625-169542625;G/A missense_variant False F5@p.S453L 1 0.428571429 ENSG00000198734 chr1:169550678-169550678;G/A missense_variant False F5@p.S2143C 1 0.161764706 ENSG00000198734 chr1:169515544-169515544;G/C missense_variant False F5@p.R848C 1 0.292035398 ENSG00000198734 chr1:169542548-169542548;G/A missense_variant False F5@p.R1161Q 1 0.342342342 ENSG00000198734 chr1:169541608-169541608;C/T missense_variant False F8@p.Q1401E 1 0.17114094 ENSG00000185010 chrX:154929589-154929589;G/C missense_variant False F5@p.Q1408H 1 0.23255814 ENSG00000198734 chr1:169540866-169540866;C/G missense_variant False F5@p.P1296A 1 0.466666667 ENSG00000198734 chr1:169541204-169541204;G/C missense_variant False F5@p.K331N 1 0.158536585 ENSG00000198734 chr1:169555307-169555307;C/G missense_variant False F5@p.K2151N 1 0.405405405 ENSG00000198734 chr1:169515519-169515519;C/G missense_variant False F5@p.K2076N 1 0.12244898 ENSG00000198734 chr1:169518529-169518529;C/G missense_variant False F5@p.I973M 1 0.057377049 ENSG00000198734 chr1:169542171-169542171;G/C missense_variant False F7@p.K259N 1 0.3 ENSG00000057593 chr13:113117568-113117568;G/C missense_variant False F7@p.P407Q 1 0.291666667 ENSG00000057593 chr13:113118827-113118827;C/A missense_variant False F7@p.Q116H 1 0.185185185 ENSG00000057593 chr13:113113878-113113878;G/C missense_variant False F7@p.T332M 1 0.185185185 ENSG00000057593 chr13:113118602-113118602;C/T missense_variant False F8@p.D1391Y 1 0.395918367 ENSG00000185010 chrX:154929619-154929619;C/A missense_variant False F8@p.D2189E 1 0.260273973 ENSG00000185010 chrX:154863090-154863090;A/T missense_variant False F8@p.E1904K 1 0.150793651 ENSG00000185010 chrX:154904401-154904401;C/T missense_variant False F8@p.E623Q 1 0.409326425 ENSG00000185010 chrX:154953928-154953928;C/G missense_variant False F8@p.E72Q 1 0.214814815 ENSG00000185010 chrX:154999530-154999530;C/G missense_variant False F8@p.E786Q 1 0.491803279 ENSG00000185010 chrX:154931434-154931434;C/G missense_variant False F8@p.E98K 1 0.1875 ENSG00000185010 chrX:154997069-154997069;C/T missense_variant False F8@p.G151E 1 0.438438438 ENSG00000185010 chrX:154993085-154993085;C/T missense_variant False F8@p.G2198V 1 0.767741935 ENSG00000185010 chrX:154861848-154861848;C/A missense_variant False F8@p.H1976N 1 0.262135922 ENSG00000185010 chrX:154903978-154903978;G/T missense_variant False F8@p.K2130N 1 0.37012987 ENSG00000185010 chrX:154896116-154896116;C/A missense_variant False F8@p.L1737V 1 0.769230769 ENSG00000185010 chrX:154928581-154928581;G/C missense_variant False F8@p.L296F 1 0.075221239 ENSG00000185010 chrX:154969454-154969454;G/A missense_variant False FADS1@p.M182I 1 0.222222222 ENSG00000149485 chr11:61812609-61812609;C/T missense_variant False FADS2@p.V233A 1 0.46875 ENSG00000134824 chr11:61848238-61848238;T/C missense_variant False FAM120B@p.G779Afs*8 1 0.231884058 ENSG00000112584 chr6:170388334-170388335;-/CG frameshift_variant False FAM111B@p.Q392E 1 0.237623762 ENSG00000189057 chr11:59125271-59125271;C/G missense_variant False FAM114A2@p.A189V 1 0.290076336 ENSG00000055147 chr5:154028213-154028213;G/A missense_variant False FAM114A1@p.R285T 1 0.405405405 ENSG00000197712 chr4:38914982-38914982;G/C missense_variant False FAM114A1@p.Q113H 1 0.447058824 ENSG00000197712 chr4:38878417-38878417;G/T missense_variant False FAM114A1@p.E474K 1 0.333333333 ENSG00000197712 chr4:38932331-38932331;G/A missense_variant False FAM111B@p.T518S 1 0.078431373 ENSG00000189057 chr11:59125650-59125650;C/G missense_variant False FAM111B@p.R355Q 1 0.397350993 ENSG00000189057 chr11:59125161-59125161;G/A missense_variant False FAM111B@p.L599F 1 0.289473684 ENSG00000189057 chr11:59125894-59125894;G/C missense_variant False FAM110C@p.S285L 1 0.205882353 ENSG00000184731 chr2:45532-45532;G/A missense_variant False FAM111B@p.E521Q 1 0.25 ENSG00000189057 chr11:59125658-59125658;G/C missense_variant False FAM111B@p.E219K 1 0.254901961 ENSG00000189057 chr11:59124752-59124752;G/A missense_variant False FAM111B@p.D642H 1 0.482352941 ENSG00000189057 chr11:59126021-59126021;G/C missense_variant False FAM111A@p.R271T 1 0.243589744 ENSG00000166801 chr11:59152480-59152480;G/C missense_variant False FAM111A@p.R196K 1 0.346153846 ENSG00000166801 chr11:59152255-59152255;G/A missense_variant False FAM111A@p.H121Y 1 0.271186441 ENSG00000166801 chr11:59152029-59152029;C/T missense_variant False FAM114A2@p.R413S 1 0.128205128 ENSG00000055147 chr5:154002268-154002268;C/G missense_variant False FAM117A@p.G11E 1 0.333333333 ENSG00000121104 chr17:49764056-49764056;C/T missense_variant False FAM117A@p.H184D 1 0.324175824 ENSG00000121104 chr17:49720349-49720349;G/C missense_variant False FAM117A@p.Q85K 1 0.432432432 ENSG00000121104 chr17:49732664-49732664;G/T missense_variant False FAM117A@p.S98F 1 0.333333333 ENSG00000121104 chr17:49732624-49732624;G/A missense_variant False FAM117B@p.K530Q 1 0.155172414 ENSG00000138439 chr2:202765582-202765582;A/C missense_variant False FAM118A@p.Q241H 1 0.375 ENSG00000100376 chr22:45332496-45332496;G/T missense_variant False FAM118B@p.D305N 1 0.194915254 ENSG00000197798 chr11:126256783-126256783;G/A missense_variant False FAM118B@p.E129K 1 0.125 ENSG00000197798 chr11:126250551-126250551;G/A missense_variant False FAM118B@p.F258L 1 0.409638554 ENSG00000197798 chr11:126256644-126256644;C/A missense_variant False FAM118B@p.M138I 1 0.075757576 ENSG00000197798 chr11:126250580-126250580;G/A missense_variant False FAM120A@p.E618K 1 0.132743363 ENSG00000048828 chr9:93532272-93532272;G/A missense_variant False FAM120A@p.L662F 1 0.47 ENSG00000048828 chr9:93543296-93543296;C/T missense_variant False FAM120A@p.Q441H 1 0.415384615 ENSG00000048828 chr9:93516174-93516174;G/C missense_variant False FAM120A@p.Q831E 1 0.085714286 ENSG00000048828 chr9:93557833-93557833;C/G missense_variant False FAM120B@p.A335T 1 0.45 ENSG00000112584 chr6:170318393-170318393;G/A missense_variant False FAM120B@p.F620L 1 0.268656716 ENSG00000112584 chr6:170323204-170323204;C/A missense_variant False FAM111A@p.F412S 1 0.477876106 ENSG00000166801 chr11:59152903-59152903;T/C missense_variant False FAM110C@p.S250R 1 0.642857143 ENSG00000184731 chr2:45636-45636;G/C missense_variant False FADS3@p.S188C 1 0.125 ENSG00000221968 chr11:61878807-61878807;G/C missense_variant False FAH@p.L284P 1 0.204545455 ENSG00000103876 chr15:80175029-80175029;T/C missense_variant False FAIM@p.E39Q 1 0.072727273 ENSG00000158234 chr3:138622191-138622191;G/C missense_variant False FAHD2B@p.T65K 1 0.322916667 ENSG00000144199 chr2:97091513-97091513;G/T missense_variant False FAHD2B@p.R7K 1 0.267605634 ENSG00000144199 chr2:97091687-97091687;C/T missense_variant False FAHD2B@p.G47R 1 0.333333333 ENSG00000144199 chr2:97091568-97091568;C/T missense_variant False FAHD2A@p.G142R 1 0.390243902 ENSG00000115042 chr2:95407119-95407119;G/C missense_variant False FAH@p.R211T 1 0.448275862 ENSG00000103876 chr15:80172174-80172174;G/C missense_variant False FAF2@p.S66L 1 0.5625 ENSG00000113194 chr5:176486419-176486419;C/T missense_variant False FAM110C@p.L246F 1 0.078947368 ENSG00000184731 chr2:45650-45650;G/A missense_variant False FAF2@p.R290K 1 0.209677419 ENSG00000113194 chr5:176498943-176498943;G/A missense_variant False FAF2@p.D184Y 1 0.302083333 ENSG00000113194 chr5:176494065-176494065;G/T missense_variant False FAF2@p.D112N 1 0.404255319 ENSG00000113194 chr5:176489017-176489017;G/A missense_variant False FAF1@p.N407H 1 0.157142857 ENSG00000185104 chr1:50567126-50567126;T/G missense_variant False FAF1@p.E363Q 1 0.356435644 ENSG00000185104 chr1:50582644-50582644;C/G missense_variant False FAF1@p.E106Q 1 0.277777778 ENSG00000185104 chr1:50788051-50788051;C/G missense_variant False FAM102A@p.F3L 1 0.438202247 None chr9:127980129-127980129;G/C missense_variant False FAM102A@p.Q13E 1 0.051020408 None chr9:127980101-127980101;G/C missense_variant False FAM102A@p.R199W 1 0.101351351 None chr9:127948092-127948092;G/A missense_variant False FAM102A@p.S372C 1 0.135802469 None chr9:127943232-127943232;G/C missense_variant False FAM102B@p.D146H 1 0.466666667 None chr1:108616412-108616412;G/C missense_variant False FAM102B@p.E256K 1 0.254098361 None chr1:108628508-108628508;G/A missense_variant False FAM104A@p.A6Kfs*2 1 0.25 ENSG00000133193 chr17:73232282-73232292;CGGCGTCTGCT/- frameshift_variant False FAM104A@p.D7N 1 0.424242424 ENSG00000133193 chr17:73232288-73232288;C/T missense_variant False FAM104A@p.R93del 1 0.133333333 ENSG00000133193 chr17:73227205-73227207;CTT/- inframe_deletion False FAM104B@p.K28N 1 0.178571429 ENSG00000182518 chrX:55159165-55159165;C/G missense_variant False FAM107B@p.H34D 1 0.353535354 ENSG00000065809 chr10:14530360-14530360;G/C missense_variant False FAM110A@p.L202V 1 0.391304348 ENSG00000125898 chr20:845408-845408;C/G missense_variant False FAM110B@p.A160T 1 0.333333333 ENSG00000169122 chr8:58146708-58146708;G/A missense_variant False FAM110B@p.A160V 1 0.217391304 ENSG00000169122 chr8:58146709-58146709;C/T missense_variant False FAM110B@p.A221Lfs*12 1 0.195121951 ENSG00000169122 chr8:58146890-58146902;TGCCCCTCCCCTG/- frameshift_variant False FAM110B@p.P43H 1 0.588235294 ENSG00000169122 chr8:58146358-58146358;C/A missense_variant False FAM110B@p.R252Q 1 0.123595506 ENSG00000169122 chr8:58146985-58146985;G/A missense_variant False FAM170A@p.I251Sfs*17 1 0.116465863 ENSG00000164334 chr5:119634496-119634496;G/- frameshift_variant False FAM171A1@p.D248H 1 0.253731343 ENSG00000148468 chr10:15248651-15248651;C/G missense_variant False FAM9B@p.S102F 1 0.25 ENSG00000177138 chrX:9029395-9029395;G/A missense_variant False FAM71B@p.P545S 1 0.206349206 ENSG00000170613 chr5:157162632-157162632;G/A missense_variant False FAM71F1@p.L211V 1 0.549668874 None chr7:128719027-128719027;C/G missense_variant False FAM71F1@p.E35K 1 0.351851852 None chr7:128715544-128715544;G/A missense_variant False FAM71E1@p.P50L 1 0.115789474 None chr19:50476240-50476240;G/A missense_variant False FAM71C@p.R219K 1 0.139303483 None chr12:99649328-99649328;G/A missense_variant False FAM71C@p.E108Q 1 0.285714286 None chr12:99648496-99648496;G/C missense_variant False FAM71B@p.S469Y 1 0.841772152 ENSG00000170613 chr5:157162859-157162859;G/T missense_variant False FAM71B@p.P545A 1 0.071428571 ENSG00000170613 chr5:157162632-157162632;G/C missense_variant False FAM71F2@p.F166L 1 0.227848101 None chr7:128677696-128677696;C/A missense_variant False FAM71B@p.N475S 1 0.391891892 ENSG00000170613 chr5:157162841-157162841;T/C missense_variant False FAM71B@p.M296I 1 0.188811189 ENSG00000170613 chr5:157163377-157163377;C/G missense_variant False FAM71B@p.E48Q 1 0.481481481 ENSG00000170613 chr5:157166027-157166027;C/G missense_variant False FAM71A@p.S351F 1 0.081395349 None chr1:212625929-212625929;C/T missense_variant False FAM71A@p.P188Q 1 0.130434783 None chr1:212625440-212625440;C/A missense_variant False FAM71A@p.M18I 1 0.5 None chr1:212624931-212624931;G/A missense_variant False FAM71F1@p.S107W 1 0.233333333 None chr7:128716883-128716883;C/G missense_variant False FAM71F2@p.P268S 1 0.285714286 None chr7:128683031-128683031;C/T missense_variant False FAM171A1@p.D863N 1 0.161616162 ENSG00000148468 chr10:15213001-15213001;C/T missense_variant False FAM78B@p.E182Q 1 0.078947368 ENSG00000188859 chr1:166070483-166070483;C/G missense_variant False FAM81B@p.E57K 1 0.390243902 ENSG00000153347 chr5:95392838-95392838;G/A missense_variant False FAM81B@p.D189H 1 0.17721519 ENSG00000153347 chr5:95420311-95420311;G/C missense_variant False FAM81A@p.R295T 1 0.434782609 ENSG00000157470 chr15:59516742-59516742;G/C missense_variant False FAM81A@p.M276K 1 0.333333333 ENSG00000157470 chr15:59516685-59516685;T/A missense_variant False FAM81A@p.E246Sfs*11 1 0.222222222 ENSG00000157470 chr15:59514369-59514369;A/- frameshift_variant False FAM78B@p.S111R 1 0.152777778 ENSG00000188859 chr1:166070696-166070696;T/G missense_variant False FAM78A@p.S72W 1 0.454545455 ENSG00000126882 chr9:131275965-131275965;G/C missense_variant False FAM72A@p.P88T 1 0.358208955 ENSG00000196550 chr1:206195845-206195845;G/T missense_variant False FAM78A@p.I242L 1 0.349112426 ENSG00000126882 chr9:131260950-131260950;T/G missense_variant False FAM76A@p.V62M 1 0.208333333 ENSG00000009780 chr1:27732640-27732640;G/A missense_variant False FAM76A@p.R162C 1 0.361111111 ENSG00000009780 chr1:27744783-27744783;C/T missense_variant False FAM76A@p.R116K 1 0.157894737 ENSG00000009780 chr1:27734176-27734176;G/A missense_variant False FAM76A@p.K263E 1 0.115384615 ENSG00000009780 chr1:27759577-27759577;A/G missense_variant False FAM76A@p.G82R 1 0.204081633 ENSG00000009780 chr1:27734073-27734073;G/A missense_variant False FAM71A@p.K507T 1 0.435643564 None chr1:212626397-212626397;A/C missense_variant False FAM71A@p.K106R 1 0.64 None chr1:212625194-212625194;A/G missense_variant False FAM71A@p.I45L 1 0.283333333 None chr1:212625010-212625010;A/T missense_variant False FAM47B@p.S318C 1 0.251655629 ENSG00000189132 chrX:34943783-34943783;A/T missense_variant False FAM47C@p.H823R 1 0.910714286 ENSG00000198173 chrX:37010878-37010878;A/G missense_variant False FAM47C@p.G939A 1 0.101010101 ENSG00000198173 chrX:37011226-37011226;G/C missense_variant False FAM47C@p.G494A 1 0.1640625 ENSG00000198173 chrX:37009891-37009891;G/C missense_variant False FAM47C@p.E672Q 1 0.35483871 ENSG00000198173 chrX:37010424-37010424;G/C missense_variant False FAM47C@p.E501K 1 0.064935065 ENSG00000198173 chrX:37009911-37009911;G/A missense_variant False FAM47C@p.D873H 1 0.051282051 ENSG00000198173 chrX:37011027-37011027;G/C missense_variant False FAM47B@p.R532C 1 0.300884956 ENSG00000189132 chrX:34944425-34944425;C/T missense_variant False FAM71A@p.G451E 1 0.282352941 None chr1:212626229-212626229;G/A missense_variant False FAM47B@p.R248C 1 0.978723404 ENSG00000189132 chrX:34943573-34943573;C/T missense_variant False FAM47B@p.R212C 1 0.620253165 ENSG00000189132 chrX:34943465-34943465;C/T missense_variant False FAM47B@p.Q202H 1 0.191176471 ENSG00000189132 chrX:34943437-34943437;G/T missense_variant False FAM47B@p.P192L 1 0.201754386 ENSG00000189132 chrX:34943406-34943406;C/T missense_variant False FAM47B@p.L247V 1 0.288659794 ENSG00000189132 chrX:34943570-34943570;C/G missense_variant False FAM47B@p.L203I 1 0.188405797 ENSG00000189132 chrX:34943438-34943438;C/A missense_variant False FAM47C@p.R211C 1 0.48245614 ENSG00000198173 chrX:37009041-37009041;C/T missense_variant False FAM47C@p.R223C 1 0.571428571 ENSG00000198173 chrX:37009077-37009077;C/T missense_variant False FAM47C@p.R434H 1 0.222222222 ENSG00000198173 chrX:37009711-37009711;G/A missense_variant False FAM47C@p.R506G 1 0.316455696 ENSG00000198173 chrX:37009926-37009926;C/G missense_variant False FAM47C@p.R850K 1 0.281818182 ENSG00000198173 chrX:37010959-37010959;G/A missense_variant False FAM47C@p.S376Y 1 0.38 ENSG00000198173 chrX:37009537-37009537;C/A missense_variant False FAM50A@p.E85D 1 0.268292683 ENSG00000071859 chrX:154445870-154445870;G/C missense_variant False FAM50B@p.R275H 1 0.298507463 ENSG00000145945 chr6:3850635-3850635;G/A missense_variant False FAM50B@p.R86L 1 0.714285714 ENSG00000145945 chr6:3850068-3850068;G/T missense_variant False FAM50B@p.S118F 1 0.205882353 ENSG00000145945 chr6:3850164-3850164;C/T missense_variant False FAM50B@p.V201M 1 0.517857143 ENSG00000145945 chr6:3850412-3850412;G/A missense_variant False FAM53A@p.P285S 1 0.333333333 ENSG00000174137 chr4:1655007-1655007;G/A missense_variant False FAM53A@p.S355C 1 0.048076923 ENSG00000174137 chr4:1641426-1641426;G/C missense_variant False FAM53C@p.E355K 1 0.4 ENSG00000120709 chr5:138346843-138346843;G/A missense_variant False FAM71A@p.D49Y 1 0.045112782 None chr1:212625022-212625022;G/T missense_variant False FAM71A@p.E277Q 1 0.261363636 None chr1:212625706-212625706;G/C missense_variant False FAM71A@p.E422Q 1 0.347826087 None chr1:212626141-212626141;G/C missense_variant False FAM81B@p.K75N 1 0.294117647 ENSG00000153347 chr5:95392894-95392894;G/C missense_variant False FAM81B@p.N31K 1 0.158333333 ENSG00000153347 chr5:95391482-95391482;T/G missense_variant False FAM81B@p.Q246E 1 0.252173913 ENSG00000153347 chr5:95428682-95428682;C/G missense_variant False FAM83H@p.M184I 1 0.255102041 ENSG00000180921 chr8:143729219-143729219;C/T missense_variant False FAM89B@p.D153N 1 0.296296296 ENSG00000176973 chr11:65573528-65573528;G/A missense_variant False FAM89A@p.S130I 1 0.220588235 ENSG00000182118 chr1:231020029-231020029;C/A missense_variant False FAM86B1@p.R148Q 1 0.12244898 ENSG00000186523 chr8:12186549-12186549;C/T missense_variant False FAM83H@p.Y178C 1 0.201492537 ENSG00000180921 chr8:143729238-143729238;T/C missense_variant False FAM83H@p.S906L 1 0.317073171 ENSG00000180921 chr8:143726744-143726744;G/A missense_variant False FAM83H@p.S8F 1 0.228571429 ENSG00000180921 chr8:143730560-143730560;G/A missense_variant False FAM83H@p.L852V 1 0.2 ENSG00000180921 chr8:143726907-143726907;G/C missense_variant False FAM83G@p.T800M 1 0.564102564 ENSG00000188522 chr17:18971432-18971432;G/A missense_variant False FAM83H@p.L84F 1 0.539823009 ENSG00000180921 chr8:143730333-143730333;G/A missense_variant False FAM83H@p.E932Q 1 0.5 ENSG00000180921 chr8:143726667-143726667;C/G missense_variant False FAM83H@p.E77K 1 0.098360656 ENSG00000180921 chr8:143730354-143730354;C/T missense_variant False FAM83H@p.E41K 1 0.095238095 ENSG00000180921 chr8:143730462-143730462;C/T missense_variant False FAM83H@p.E252K 1 0.378378378 ENSG00000180921 chr8:143728707-143728707;C/T missense_variant False FAM83H@p.D488G 1 0.363636364 ENSG00000180921 chr8:143727998-143727998;T/C missense_variant False FAM89B@p.S135L 1 0.727272727 ENSG00000176973 chr11:65573475-65573475;C/T missense_variant False FAM8A1@p.E94K 1 0.538461538 ENSG00000137414 chr6:17600689-17600689;G/A missense_variant False FAM8A1@p.E94Q 1 0.5 ENSG00000137414 chr6:17600689-17600689;G/C missense_variant False FAM8A1@p.G19E 1 0.392857143 ENSG00000137414 chr6:17600465-17600465;G/A missense_variant False FAM90A1@p.A300S 1 0.086956522 ENSG00000171847 chr12:8222319-8222319;C/A missense_variant False FAM90A1@p.D175H 1 0.217391304 ENSG00000171847 chr12:8222694-8222694;C/G missense_variant False FAM90A1@p.G101A 1 0.1 ENSG00000171847 chr12:8224037-8224037;C/G missense_variant False FAM90A1@p.G235S 1 0.180487805 ENSG00000171847 chr12:8222514-8222514;C/T missense_variant False FAM90A1@p.R367T 1 0.098360656 ENSG00000171847 chr12:8222117-8222117;C/G missense_variant False FAM90A1@p.S406C 1 0.253164557 ENSG00000171847 chr12:8222000-8222000;G/C missense_variant False FAM91A1@p.G545E 1 0.161016949 ENSG00000176853 chr8:123799593-123799593;G/A missense_variant False FAM91A1@p.L452V 1 0.231707317 ENSG00000176853 chr8:123789688-123789688;C/G missense_variant False FAM98A@p.E216K 1 0.202531646 ENSG00000119812 chr2:33586636-33586636;C/T missense_variant False FAM98A@p.Q499L 1 0.174285714 ENSG00000119812 chr2:33584837-33584837;T/A missense_variant False FAM98A@p.T94P 1 0.287292818 ENSG00000119812 chr2:33592137-33592137;T/G missense_variant False FAM98B@p.G237A 1 0.082644628 ENSG00000171262 chr15:38474279-38474279;G/C missense_variant False FAM98C@p.R127H 1 0.280487805 ENSG00000130244 chr19:38404938-38404938;G/A missense_variant False FAM83H@p.A186T 1 0.175824176 ENSG00000180921 chr8:143729215-143729215;C/T missense_variant False FAM83G@p.S60W 1 0.140350877 ENSG00000188522 chr17:19003863-19003863;G/C missense_variant False FAM81B@p.R289C 1 0.242424242 ENSG00000153347 chr5:95436878-95436878;C/T missense_variant False FAM83B@p.Y639H 1 0.492537313 ENSG00000168143 chr6:54940886-54940886;T/C missense_variant False FAM83C@p.S92N 1 0.151515152 ENSG00000125998 chr20:35292030-35292030;C/T missense_variant False FAM83C@p.R645H 1 0.179487179 ENSG00000125998 chr20:35286845-35286845;C/T missense_variant False FAM83C@p.R626W 1 0.5 ENSG00000125998 chr20:35286903-35286903;G/A missense_variant False FAM83C@p.R535W 1 0.557692308 ENSG00000125998 chr20:35287176-35287176;G/A missense_variant False FAM83C@p.G642S 1 0.375 ENSG00000125998 chr20:35286855-35286855;C/T missense_variant False FAM83C@p.E93K 1 0.203389831 ENSG00000125998 chr20:35292028-35292028;C/T missense_variant False FAM83B@p.S920F 1 0.082352941 ENSG00000168143 chr6:54941730-54941730;C/T missense_variant False FAM83G@p.S330C 1 0.124031008 ENSG00000188522 chr17:18978677-18978677;G/C missense_variant False FAM83B@p.S309L 1 0.458823529 ENSG00000168143 chr6:54939897-54939897;C/T missense_variant False FAM83B@p.R206Q 1 0.531914894 ENSG00000168143 chr6:54927515-54927515;G/A missense_variant False FAM83B@p.L255V 1 0.396825397 ENSG00000168143 chr6:54939734-54939734;C/G missense_variant False FAM83B@p.H126N 1 0.321428571 ENSG00000168143 chr6:54870622-54870622;C/A missense_variant False FAM83B@p.D669H 1 0.215909091 ENSG00000168143 chr6:54940976-54940976;G/C missense_variant False FAM83A@p.T84N 1 0.053333333 ENSG00000147689 chr8:123183107-123183107;C/A missense_variant False FAM83D@p.G234E 1 0.211764706 ENSG00000101447 chr20:38947925-38947925;G/A missense_variant False FAM83D@p.I173V 1 0.29787234 ENSG00000101447 chr20:38941992-38941992;A/G missense_variant False FAM83D@p.S31L 1 0.227272727 ENSG00000101447 chr20:38926534-38926534;C/T missense_variant False FAM83D@p.S550L 1 0.093457944 ENSG00000101447 chr20:38952411-38952411;C/T missense_variant False FAM83D@p.T411N 1 0.220338983 ENSG00000101447 chr20:38951994-38951994;C/A missense_variant False FAM83E@p.R219Q 1 0.604651163 ENSG00000105523 chr19:48609978-48609978;C/T missense_variant False FAM83E@p.R309C 1 0.184210526 ENSG00000105523 chr19:48603745-48603745;G/A missense_variant False FAM83E@p.R440C 1 0.21875 ENSG00000105523 chr19:48601228-48601228;G/A missense_variant False FAM83E@p.S278R 1 0.245614035 ENSG00000105523 chr19:48603836-48603836;G/C missense_variant False FAM83F@p.L211P 1 0.236842105 ENSG00000133477 chr22:40019310-40019310;T/C missense_variant False FAM83F@p.R437H 1 0.355932203 ENSG00000133477 chr22:40021820-40021820;G/A missense_variant False FAM83F@p.S458N 1 0.155737705 ENSG00000133477 chr22:40021883-40021883;G/A missense_variant False FAM83G@p.D678H 1 0.144578313 ENSG00000188522 chr17:18977634-18977634;C/G missense_variant False FAM83G@p.E163K 1 0.482758621 ENSG00000188522 chr17:19003555-19003555;C/T missense_variant False FAM83G@p.E532Q 1 0.174603175 ENSG00000188522 chr17:18978072-18978072;C/G missense_variant False FAM83G@p.E53D 1 0.307692308 ENSG00000188522 chr17:19003883-19003883;C/G missense_variant False FAM83G@p.E617K 1 0.138461538 ENSG00000188522 chr17:18977817-18977817;C/T missense_variant False FAM47B@p.G14S 1 0.2 ENSG00000189132 chrX:34942871-34942871;G/A missense_variant False FAM47B@p.D44H 1 0.417910448 ENSG00000189132 chrX:34942961-34942961;G/C missense_variant False FAM47A@p.R544G 1 0.959459459 ENSG00000185448 chrX:34130649-34130649;G/C missense_variant False FAM193A@p.E404K 1 0.242424242 ENSG00000125386 chr4:2672124-2672124;G/A missense_variant False FAM193A@p.M833Nfs*12 1 0.315789474 ENSG00000125386 chr4:2696449-2696450;-/A frameshift_variant False FAM193A@p.K937N 1 0.27027027 ENSG00000125386 chr4:2699856-2699856;G/C missense_variant False FAM193A@p.K717N 1 0.379661017 ENSG00000125386 chr4:2693806-2693806;G/C missense_variant False FAM193A@p.E994K 1 0.293103448 ENSG00000125386 chr4:2700025-2700025;G/A missense_variant False FAM193A@p.E763K 1 0.352941176 ENSG00000125386 chr4:2695013-2695013;G/A missense_variant False FAM193A@p.E442Q 1 0.101694915 ENSG00000125386 chr4:2672238-2672238;G/C missense_variant False FAM193A@p.E171K 1 0.103139013 ENSG00000125386 chr4:2657875-2657875;G/A missense_variant False FAM189B@p.G618C 1 0.375 None chr1:155247937-155247937;C/A missense_variant False FAM193A@p.D357Y 1 0.2 ENSG00000125386 chr4:2663151-2663151;G/T missense_variant False FAM193A@p.D341H 1 0.378787879 ENSG00000125386 chr4:2662986-2662986;G/C missense_variant False FAM193A@p.D315N 1 0.28358209 ENSG00000125386 chr4:2662908-2662908;G/A missense_variant False FAM189B@p.R294Q 1 0.24 None chr1:155251515-155251515;C/T missense_variant False FAM189B@p.R167P 1 0.136363636 None chr1:155253872-155253872;C/G missense_variant False FAM189B@p.Q305E 1 0.428571429 None chr1:155251146-155251146;G/C missense_variant False FAM193A@p.P572A 1 0.176470588 ENSG00000125386 chr4:2690754-2690754;C/G missense_variant False FAM193A@p.P756S 1 0.1875 ENSG00000125386 chr4:2694992-2694992;C/T missense_variant False FAM193A@p.R819C 1 0.202247191 ENSG00000125386 chr4:2696414-2696414;C/T missense_variant False FAM193A@p.S1240F 1 0.282828283 ENSG00000125386 chr4:2731789-2731789;C/T missense_variant False FAM193A@p.S677L 1 0.291666667 ENSG00000125386 chr4:2693685-2693685;C/T missense_variant False FAM193B@p.S314F 1 0.222222222 ENSG00000146067 chr5:177536493-177536493;G/A missense_variant False FAM199X@p.D42H 1 0.35 ENSG00000123575 chrX:104166909-104166909;G/C missense_variant False FAM199X@p.P27T 1 0.25 ENSG00000123575 chrX:104166864-104166864;C/A missense_variant False FAM199X@p.Q221E 1 0.470588235 ENSG00000123575 chrX:104186553-104186553;C/G missense_variant False FAM204A@p.E22K 1 0.142857143 ENSG00000165669 chr10:118336352-118336352;C/T missense_variant False FAM204A@p.N31K 1 0.344262295 ENSG00000165669 chr10:118336323-118336323;G/T missense_variant False FAM209A@p.S170C 1 0.35 ENSG00000124103 chr20:56526063-56526063;C/G missense_variant False FAM209B@p.A105D 1 0.11627907 ENSG00000213714 chr20:56536236-56536236;C/A missense_variant False FAM209B@p.G140A 1 0.161290323 ENSG00000213714 chr20:56536341-56536341;G/C missense_variant False FAM209B@p.R43Q 1 0.24 ENSG00000213714 chr20:56533469-56533469;G/A missense_variant False FAM209B@p.W2L 1 0.286432161 ENSG00000213714 chr20:56533346-56533346;G/T missense_variant False FAM20A@p.E202K 1 0.505747126 ENSG00000108950 chr17:68554813-68554813;C/T missense_variant False FAM189B@p.H307Q 1 0.432432432 None chr1:155251138-155251138;G/C missense_variant False FAM189B@p.E552D 1 0.535714286 None chr1:155248227-155248227;C/G missense_variant False FAM20B@p.D361Y 1 0.409448819 ENSG00000116199 chr1:179071995-179071995;G/T missense_variant False FAM171B@p.Q584E 1 0.197802198 ENSG00000144369 chr2:186762092-186762092;C/G missense_variant False FAM172A@p.H155Y 1 0.361111111 ENSG00000113391 chr5:93958881-93958881;G/A missense_variant False FAM172A@p.D372N 1 0.275862069 ENSG00000113391 chr5:93621124-93621124;C/T missense_variant False FAM171B@p.S549F 1 0.210526316 ENSG00000144369 chr2:186761988-186761988;C/T missense_variant False FAM171B@p.S199L 1 0.055045872 ENSG00000144369 chr2:186747122-186747122;C/T missense_variant False FAM171B@p.R457W 1 0.178294574 ENSG00000144369 chr2:186761711-186761711;C/T missense_variant False FAM171B@p.R450T 1 0.456140351 ENSG00000144369 chr2:186761691-186761691;G/C missense_variant False FAM171B@p.L427F 1 0.54 ENSG00000144369 chr2:186761623-186761623;A/T missense_variant False FAM189A2@p.S318L 1 0.36 None chr9:69388254-69388254;C/T missense_variant False FAM171A1@p.S176L 1 0.139534884 ENSG00000148468 chr10:15254771-15254771;G/A missense_variant False FAM171A1@p.R146C 1 0.189189189 ENSG00000148468 chr10:15254862-15254862;G/A missense_variant False FAM171A1@p.P850R 1 0.115853659 ENSG00000148468 chr10:15213039-15213039;G/C missense_variant False FAM171A1@p.G72S 1 0.58 ENSG00000148468 chr10:15283989-15283989;C/T missense_variant False FAM171A1@p.E776K 1 0.170454545 ENSG00000148468 chr10:15213262-15213262;C/T missense_variant False FAM171A1@p.E748K 1 0.641025641 ENSG00000148468 chr10:15213346-15213346;C/T missense_variant False FAM174A@p.R155T 1 0.25 ENSG00000174132 chr5:100562083-100562083;G/C missense_variant False FAM177A1@p.E157K 1 0.52173913 ENSG00000151327 chr14:35081055-35081055;G/A missense_variant False FAM177B@p.E154K 1 0.191780822 ENSG00000197520 chr1:222750041-222750041;G/A missense_variant False FAM180A@p.S87L 1 0.285123967 ENSG00000189320 chr7:135734237-135734237;G/A missense_variant False FAM181A@p.A16Dfs*53 1 0.23255814 ENSG00000140067 chr14:93925317-93925318;-/A frameshift_variant False FAM181B@p.E61K 1 0.583333333 ENSG00000182103 chr11:82733549-82733549;C/T missense_variant False FAM184A@p.K1050N 1 0.148514851 ENSG00000111879 chr6:118961952-118961952;C/A missense_variant False FAM184A@p.Q341E 1 0.235955056 ENSG00000111879 chr6:119023074-119023074;G/C missense_variant False FAM184A@p.Q927H 1 0.069892473 ENSG00000111879 chr6:118974562-118974562;T/G missense_variant False FAM184A@p.R1024L 1 0.32 ENSG00000111879 chr6:118964734-118964734;C/A missense_variant False FAM184A@p.R268T 1 0.204301075 ENSG00000111879 chr6:119024170-119024170;C/G missense_variant False FAM184A@p.R683T 1 0.31 ENSG00000111879 chr6:119002939-119002939;C/G missense_variant False FAM186B@p.E161K 1 0.444444444 ENSG00000135436 chr12:49603209-49603209;C/T missense_variant False FAM186B@p.M310I 1 0.239669421 ENSG00000135436 chr12:49600710-49600710;C/T missense_variant False FAM187B@p.P358L 1 0.269230769 ENSG00000177558 chr19:35224862-35224862;G/A missense_variant False FAM187B@p.S329F 1 0.405405405 ENSG00000177558 chr19:35224949-35224949;G/A missense_variant False FAM189A2@p.S210Y 1 0.48 None chr9:69383951-69383951;C/A missense_variant False FAM20A@p.E442K 1 0.18875502 ENSG00000108950 chr17:68539374-68539374;C/T missense_variant False FAM20B@p.L231V 1 0.317460317 ENSG00000116199 chr1:179064043-179064043;C/G missense_variant False FAM47A@p.R255H 1 0.742857143 ENSG00000185448 chrX:34131515-34131515;C/T missense_variant False FAM234A@p.R395T 1 0.431818182 ENSG00000167930 chr16:263771-263771;G/C missense_variant False FAM241B@p.A59V 1 0.064516129 ENSG00000171224 chr10:69632869-69632869;C/T missense_variant False FAM241A@p.Y91C 1 0.16751269 ENSG00000174749 chr4:112186811-112186811;A/G missense_variant False FAM234B@p.V319I 1 0.220338983 ENSG00000084444 chr12:13066742-13066742;G/A missense_variant False FAM234B@p.S546L 1 0.166666667 ENSG00000084444 chr12:13076138-13076138;C/T missense_variant False FAM234B@p.E21K 1 0.25 ENSG00000084444 chr12:13055574-13055574;G/A missense_variant False FAM234B@p.D463Y 1 0.4 ENSG00000084444 chr12:13071259-13071259;G/T missense_variant False FAM234A@p.R19T 1 0.246073298 ENSG00000167930 chr16:254469-254469;G/C missense_variant False FAM222A@p.R447C 1 0.421052632 ENSG00000139438 chr12:109769268-109769268;C/T missense_variant False FAM234A@p.L313P 1 0.108333333 ENSG00000167930 chr16:262520-262520;T/C missense_variant False FAM234A@p.E32K 1 0.27173913 ENSG00000167930 chr16:254507-254507;G/A missense_variant False FAM234A@p.D74N 1 0.157772622 ENSG00000167930 chr16:254633-254633;G/A missense_variant False FAM234A@p.D156H 1 0.596491228 ENSG00000167930 chr16:260049-260049;G/C missense_variant False FAM227B@p.T418I 1 0.285714286 ENSG00000166262 chr15:49367466-49367466;G/A missense_variant False FAM227B@p.S100P 1 0.277777778 ENSG00000166262 chr15:49589815-49589815;A/G missense_variant False FAM241B@p.L81V 1 0.470588235 ENSG00000171224 chr10:69632934-69632934;C/G missense_variant False FAM24A@p.A23V 1 0.152849741 ENSG00000203795 chr10:122911702-122911702;C/T missense_variant False FAM24A@p.L7V 1 0.540372671 ENSG00000203795 chr10:122911653-122911653;C/G missense_variant False FAM3A@p.T228M 1 0.1875 ENSG00000071889 chrX:154506821-154506821;G/A missense_variant False FAM3A@p.W20L 1 0.833333333 ENSG00000071889 chrX:154512891-154512891;C/A missense_variant False FAM3B@p.L53I 1 0.421052632 ENSG00000183844 chr21:41323060-41323060;C/A missense_variant False FAM3C@p.D141N 1 0.376811594 ENSG00000196937 chr7:121360089-121360089;C/T missense_variant False FAM3C@p.L44F 1 0.727272727 ENSG00000196937 chr7:121372126-121372126;C/A missense_variant False FAM3C@p.V10M 1 0.3 ENSG00000196937 chr7:121379000-121379000;C/T missense_variant False FAM3D@p.E194K 1 0.191176471 ENSG00000198643 chr3:58636299-58636299;C/T missense_variant False FAM3D@p.R24G 1 0.670212766 ENSG00000198643 chr3:58653725-58653725;G/C missense_variant False FAM3D@p.R99K 1 0.153061224 ENSG00000198643 chr3:58643688-58643688;C/T missense_variant False FAM43A@p.E14K 1 0.433962264 ENSG00000185112 chr3:194686866-194686866;G/A missense_variant False FAM43A@p.E390K 1 0.333333333 ENSG00000185112 chr3:194687994-194687994;G/A missense_variant False FAM43A@p.E44K 1 0.444444444 ENSG00000185112 chr3:194686956-194686956;G/A missense_variant False FAM43B@p.E15K 1 0.269230769 ENSG00000183114 chr1:20553016-20553016;G/A missense_variant False FAM47A@p.Q420E 1 0.176470588 ENSG00000185448 chrX:34131021-34131021;G/C missense_variant False FAM227B@p.E111Q 1 0.592592593 ENSG00000166262 chr15:49589782-49589782;C/G missense_variant False FAM221B@p.H19Q 1 0.350877193 ENSG00000204930 chr9:35826105-35826105;G/T missense_variant False FAM20B@p.R6_V7insG 1 0.230769231 ENSG00000116199 chr1:179043863-179043864;-/GAG inframe_insertion False FAM214A@p.H45D 1 0.451612903 None chr15:52613741-52613741;G/C missense_variant False FAM216A@p.F101L 1 0.834951456 ENSG00000204856 chr12:110485196-110485196;C/G missense_variant False FAM216A@p.E79K 1 0.208333333 ENSG00000204856 chr12:110485128-110485128;G/A missense_variant False FAM216A@p.E265K 1 0.251655629 ENSG00000204856 chr12:110490108-110490108;G/A missense_variant False FAM214A@p.S954L 1 0.25 None chr15:52587167-52587167;G/A missense_variant False FAM214A@p.M633V 1 0.213675214 None chr15:52609017-52609017;T/C missense_variant False FAM214A@p.L381F 1 0.253521127 None chr15:52609771-52609771;C/G missense_variant False FAM214A@p.E77Q 1 0.236842105 None chr15:52611750-52611750;C/G missense_variant False FAM221B@p.H11Y 1 0.3 ENSG00000204930 chr9:35826131-35826131;G/A missense_variant False FAM214A@p.E358K 1 0.252873563 None chr15:52609842-52609842;C/T missense_variant False FAM214A@p.E125Q 1 0.153846154 None chr15:52611606-52611606;C/G missense_variant False FAM214A@p.E125K 1 0.297297297 None chr15:52611606-52611606;C/T missense_variant False FAM214A@p.D182N 1 0.395833333 None chr15:52610370-52610370;C/T missense_variant False FAM210A@p.Q124E 1 0.454545455 ENSG00000177150 chr18:13681708-13681708;G/C missense_variant False FAM210A@p.E249Q 1 0.082089552 ENSG00000177150 chr18:13666554-13666554;C/G missense_variant False FAM216A@p.S214C 1 0.268907563 ENSG00000204856 chr12:110487881-110487881;C/G missense_variant False FAM216B@p.S110L 1 0.193548387 ENSG00000179813 chr13:42788699-42788699;C/T missense_variant False FAM217A@p.D213N 1 0.166666667 ENSG00000145975 chr6:4069586-4069586;C/T missense_variant False FAM217A@p.D347N 1 0.475336323 ENSG00000145975 chr6:4069184-4069184;C/T missense_variant False FAM217A@p.E453K 1 0.326732673 ENSG00000145975 chr6:4068866-4068866;C/T missense_variant False FAM217A@p.K210N 1 0.114583333 ENSG00000145975 chr6:4069593-4069593;C/G missense_variant False FAM217A@p.R162T 1 0.327868852 ENSG00000145975 chr6:4069738-4069738;C/G missense_variant False FAM217A@p.R289S 1 0.317647059 ENSG00000145975 chr6:4069358-4069358;G/T missense_variant False FAM217A@p.S484C 1 0.340909091 ENSG00000145975 chr6:4068772-4068772;G/C missense_variant False FAM217B@p.D337H 1 0.230769231 ENSG00000196227 chr20:59944952-59944952;G/C missense_variant False FAM219A@p.D155G 1 0.150537634 ENSG00000164970 chr9:34401058-34401058;T/C missense_variant False FAM219B@p.P173L 1 0.188679245 ENSG00000178761 chr15:74902698-74902698;G/A missense_variant False FAM219B@p.S122Y 1 0.695652174 ENSG00000178761 chr15:74905169-74905169;G/T missense_variant False FAM221A@p.E179K 1 0.293532338 ENSG00000188732 chr7:23691494-23691494;G/A missense_variant False FAM221A@p.R175K 1 0.256097561 ENSG00000188732 chr7:23691483-23691483;G/A missense_variant False FAM221A@p.S152G 1 0.32 ENSG00000188732 chr7:23691413-23691413;A/G missense_variant False FAM221B@p.E82K 1 0.140625 ENSG00000204930 chr9:35825918-35825918;C/T missense_variant False FBXO38@p.H565Y 1 0.214285714 ENSG00000145868 chr5:148424072-148424072;C/T missense_variant False FBXO39@p.H207Y 1 0.15625 ENSG00000177294 chr17:6780487-6780487;C/T missense_variant False F5@p.E638K 1 0.212121212 ENSG00000198734 chr1:169544359-169544359;C/T missense_variant False FLRT3@p.M479T 1 0.230088496 ENSG00000125848 chr20:14326071-14326071;A/G missense_variant False FLT1@p.E513K 1 0.06 ENSG00000102755 chr13:28405794-28405794;C/T missense_variant False FLT1@p.A1148V 1 0.130434783 ENSG00000102755 chr13:28312042-28312042;G/A missense_variant False FLRT3@p.S426C 1 0.204918033 ENSG00000125848 chr20:14326230-14326230;G/C missense_variant False FLRT3@p.R461H 1 0.074074074 ENSG00000125848 chr20:14326125-14326125;C/T missense_variant False FLRT3@p.R330H 1 0.244444444 ENSG00000125848 chr20:14326518-14326518;C/T missense_variant False FLRT3@p.R181C 1 0.141242938 ENSG00000125848 chr20:14326966-14326966;G/A missense_variant False FLRT3@p.L302V 1 0.048387097 ENSG00000125848 chr20:14326603-14326603;G/C missense_variant False FLT1@p.H730D 1 0.048611111 ENSG00000102755 chr13:28357614-28357614;G/C missense_variant False FLRT3@p.A239T 1 0.327586207 ENSG00000125848 chr20:14326792-14326792;C/T missense_variant False FLRT2@p.V176A 1 0.449541284 ENSG00000185070 chr14:85622041-85622041;T/C missense_variant False FLRT2@p.R335L 1 0.474418605 ENSG00000185070 chr14:85622518-85622518;G/T missense_variant False FLRT2@p.R112K 1 0.318181818 ENSG00000185070 chr14:85621849-85621849;G/A missense_variant False FLRT2@p.Q426P 1 0.197368421 ENSG00000185070 chr14:85622791-85622791;A/C missense_variant False FLRT2@p.N106S 1 0.081967213 ENSG00000185070 chr14:85621831-85621831;A/G missense_variant False FLT1@p.E808K 1 0.082191781 ENSG00000102755 chr13:28339234-28339234;C/T missense_variant False FLT1@p.S1268L 1 0.319444444 ENSG00000102755 chr13:28306690-28306690;G/A missense_variant False FMO3@p.M211L 1 0.49112426 ENSG00000007933 chr1:171110801-171110801;A/T missense_variant False FLT3@p.L780F 1 0.242424242 ENSG00000122025 chr13:28023428-28023428;C/G missense_variant True FLT4@p.G276V 1 0.21875 ENSG00000037280 chr5:180629417-180629417;C/A missense_variant False FLT4@p.E566K 1 0.139240506 ENSG00000037280 chr5:180621866-180621866;C/T missense_variant False FLT4@p.E336K 1 0.305555556 ENSG00000037280 chr5:180628979-180628979;C/T missense_variant False FLT3LG@p.A90P 1 0.133333333 ENSG00000090554 chr19:49476492-49476492;G/C missense_variant False FLT3@p.W854C 1 0.326530612 ENSG00000122025 chr13:28015681-28015681;C/A missense_variant True FLT3@p.V491Sfs*15 1 0.294797688 ENSG00000122025 chr13:28035621-28035622;-/T frameshift_variant True FLT3@p.G846D 1 0.363636364 ENSG00000122025 chr13:28018471-28018471;C/T missense_variant True FLT1@p.S476C 1 0.208695652 ENSG00000102755 chr13:28427168-28427168;G/C missense_variant False FLT3@p.E716Q 1 0.074074074 ENSG00000122025 chr13:28027149-28027149;C/G missense_variant True FLT3@p.E299K 1 0.254545455 ENSG00000122025 chr13:28049525-28049525;C/T missense_variant True FLT3@p.E209K 1 0.106060606 ENSG00000122025 chr13:28050212-28050212;C/T missense_variant True FLT3@p.C199S 1 0.147540984 ENSG00000122025 chr13:28052563-28052563;C/G missense_variant True FLT1@p.V1162E 1 0.277777778 ENSG00000102755 chr13:28312000-28312000;A/T missense_variant False FLT1@p.V1036A 1 0.448717949 ENSG00000102755 chr13:28321530-28321530;A/G missense_variant False FLRT2@p.L444V 1 0.229166667 ENSG00000185070 chr14:85622844-85622844;C/G missense_variant False FLRT2@p.K168N 1 0.375 ENSG00000185070 chr14:85622018-85622018;G/C missense_variant False FLRT2@p.A349S 1 0.602484472 ENSG00000185070 chr14:85622559-85622559;G/T missense_variant False FLNC@p.D1886N 1 0.172413793 ENSG00000128591 chr7:128851348-128851348;G/A missense_variant False FLNC@p.F819L 1 0.292682927 ENSG00000128591 chr7:128842861-128842861;C/A missense_variant False FLNC@p.F2029L 1 0.166666667 ENSG00000128591 chr7:128852910-128852910;C/G missense_variant False FLNC@p.E1408K 1 0.40625 ENSG00000128591 chr7:128846839-128846839;G/A missense_variant False FLNC@p.D685Y 1 0.162068966 ENSG00000128591 chr7:128841499-128841499;G/T missense_variant False FLNC@p.D619E 1 0.076233184 ENSG00000128591 chr7:128841213-128841213;C/A missense_variant False FLNC@p.D2441N 1 0.163636364 ENSG00000128591 chr7:128856587-128856587;G/A missense_variant False FLNC@p.D1538H 1 0.174033149 ENSG00000128591 chr7:128848592-128848592;G/C missense_variant False FLRT1@p.R246C 1 0.214285714 ENSG00000126500 chr11:64117003-64117003;C/T missense_variant False FLNC@p.A443V 1 0.88034188 ENSG00000128591 chr7:128838720-128838720;C/T missense_variant False FLNB@p.V2292G 1 0.159574468 ENSG00000136068 chr3:58156062-58156062;T/G missense_variant False FLNB@p.V2185L 1 0.21875 ENSG00000136068 chr3:58153560-58153560;G/T missense_variant False FLNB@p.S1946F 1 0.333333333 ENSG00000136068 chr3:58148314-58148314;C/T missense_variant False FLNB@p.P2414S 1 0.255813953 ENSG00000136068 chr3:58168481-58168481;C/T missense_variant False FLNB@p.M491I 1 0.418604651 ENSG00000136068 chr3:58102330-58102330;G/A missense_variant False FLNC@p.G1647V 1 0.3125 ENSG00000128591 chr7:128849193-128849193;G/T missense_variant False FLNC@p.G1655S 1 0.18 ENSG00000128591 chr7:128849342-128849342;G/A missense_variant False FLNC@p.I1421M 1 0.362068966 ENSG00000128591 chr7:128846880-128846880;C/G missense_variant False FLNC@p.K1394N 1 0.108695652 ENSG00000128591 chr7:128846799-128846799;G/C missense_variant False FLNC@p.L2706V 1 0.266666667 ENSG00000128591 chr7:128858461-128858461;C/G missense_variant False FLNC@p.R2409C 1 0.161290323 ENSG00000128591 chr7:128855288-128855288;C/T missense_variant False FLNC@p.S1005L 1 0.66 ENSG00000128591 chr7:128844088-128844088;C/T missense_variant False FLOT1@p.E299K 1 0.224489796 ENSG00000137312 chr6:30730929-30730929;C/T missense_variant False FLOT1@p.E406Q 1 0.125 ENSG00000137312 chr6:30730060-30730060;C/G missense_variant False FLOT1@p.F127L 1 0.174496644 ENSG00000137312 chr6:30740772-30740772;G/C missense_variant False FLOT1@p.L279Rfs*11 1 0.202380952 ENSG00000137312 chr6:30730964-30730988;GCTGGCTTCCGCACCCGGGCCTCCA/- frameshift_variant False FLOT2@p.E11K 1 0.615384615 ENSG00000132589 chr17:28897544-28897544;C/T missense_variant False FLOT2@p.E339K 1 0.087591241 ENSG00000132589 chr17:28881275-28881275;C/T missense_variant False FLOT2@p.I275M 1 0.213793103 ENSG00000132589 chr17:28881903-28881903;G/C missense_variant False FLOT2@p.K280E 1 0.223300971 ENSG00000132589 chr17:28881890-28881890;T/C missense_variant False FLOT2@p.V286Sfs*10 1 0.198019802 ENSG00000132589 chr17:28881839-28881872;TGCGGTGGGCCTCGGCCTCGGCAGGCCGGCGCAC/- frameshift_variant False FLRT1@p.E120K 1 0.266666667 ENSG00000126500 chr11:64116625-64116625;G/A missense_variant False FLT4@p.L1104I 1 0.415730337 ENSG00000037280 chr5:180614089-180614089;G/T missense_variant False FLT4@p.L620V 1 0.323529412 ENSG00000037280 chr5:180621704-180621704;G/C missense_variant False FLT4@p.R1031Q 1 0.177570093 ENSG00000037280 chr5:180616904-180616904;C/T missense_variant False FMNL1@p.R875C 1 0.363636364 ENSG00000184922 chr17:45245003-45245003;C/T missense_variant False FMNL3@p.E416D 1 0.178571429 ENSG00000161791 chr12:49653301-49653301;C/G missense_variant False FMNL2@p.Q81E 1 0.244897959 ENSG00000157827 chr2:152542778-152542778;C/G missense_variant False FMNL2@p.I472S 1 0.132075472 ENSG00000157827 chr2:152618946-152618946;T/G missense_variant False FMNL2@p.H721Y 1 0.181818182 ENSG00000157827 chr2:152626723-152626723;C/T missense_variant False FMNL2@p.G576A 1 0.285714286 ENSG00000157827 chr2:152619608-152619608;G/C missense_variant False FMNL2@p.E662Q 1 0.294117647 ENSG00000157827 chr2:152626546-152626546;G/C missense_variant False FMNL1@p.R283W 1 0.179640719 ENSG00000184922 chr17:45237592-45237592;C/T missense_variant False FMN2@p.P879T 1 0.20754717 ENSG00000155816 chr1:240207447-240207447;C/A missense_variant False FMNL1@p.G524R 1 0.454545455 ENSG00000184922 chr17:45241619-45241619;G/C missense_variant False FMNL1@p.F681L 1 0.335766423 ENSG00000184922 chr17:45243150-45243150;C/G missense_variant False FMNL1@p.E761V 1 0.12195122 ENSG00000184922 chr17:45243859-45243859;A/T missense_variant False FMN2@p.V462I 1 0.139534884 ENSG00000155816 chr1:240093493-240093493;G/A missense_variant False FMN2@p.V154F 1 0.19047619 ENSG00000155816 chr1:240092569-240092569;G/T missense_variant False FMN2@p.S93F 1 0.239130435 ENSG00000155816 chr1:240092387-240092387;C/T missense_variant False FMNL3@p.E591K 1 0.053921569 ENSG00000161791 chr12:49651194-49651194;C/T missense_variant False FMNL3@p.K391N 1 0.201492537 ENSG00000161791 chr12:49653773-49653773;C/G missense_variant False FMNL3@p.R280Q 1 0.238095238 ENSG00000161791 chr12:49656450-49656450;C/T missense_variant False FMNL3@p.R859W 1 0.360655738 ENSG00000161791 chr12:49648294-49648294;G/A missense_variant False FMO1@p.S70L 1 0.125 ENSG00000010932 chr1:171267619-171267619;C/T missense_variant False FMO2@p.D340Y 1 0.268292683 ENSG00000094963 chr1:171205469-171205469;G/T missense_variant False FMO2@p.E314K 1 0.426229508 ENSG00000094963 chr1:171205391-171205391;G/A missense_variant False FMO2@p.G181A 1 0.038461538 ENSG00000094963 chr1:171199403-171199403;G/C missense_variant False FMO2@p.R92K 1 0.108108108 ENSG00000094963 chr1:171193477-171193477;G/A missense_variant False FMO2@p.S137R 1 0.039215686 ENSG00000094963 chr1:171196738-171196738;T/A missense_variant False FMO2@p.T60I 1 0.545454545 ENSG00000094963 chr1:171193381-171193381;C/T missense_variant False FMO3@p.A290V 1 0.333333333 ENSG00000007933 chr1:171114048-171114048;C/T missense_variant False FMO3@p.D76N 1 0.618181818 ENSG00000007933 chr1:171103878-171103878;G/A missense_variant False FMO3@p.E208Q 1 0.14516129 ENSG00000007933 chr1:171108216-171108216;G/C missense_variant False FMO3@p.E349K 1 0.303370787 ENSG00000007933 chr1:171114224-171114224;G/A missense_variant False FMO3@p.E411K 1 0.35 ENSG00000007933 chr1:171116255-171116255;G/A missense_variant False FMO3@p.G123S 1 0.309278351 ENSG00000007933 chr1:171107720-171107720;G/A missense_variant False FMN2@p.R1420L 1 0.5375 ENSG00000155816 chr1:240329119-240329119;G/T missense_variant False FMN2@p.P860H 1 0.196428571 ENSG00000155816 chr1:240207391-240207391;C/A missense_variant False FLT4@p.R1041W 1 0.413793103 ENSG00000037280 chr5:180616465-180616465;G/A missense_variant False FLVCR2@p.N109S 1 0.611111111 ENSG00000119686 chr14:75579298-75579298;A/G missense_variant False FMC1-LUC7L2@p.R36G 1 0.073394495 ENSG00000269955 chr7:139341490-139341490;C/G missense_variant False FLYWCH1@p.R389K 1 0.384615385 ENSG00000059122 chr16:2933499-2933499;G/A missense_variant False FLYWCH1@p.E245K 1 0.4 ENSG00000059122 chr16:2930817-2930817;G/A missense_variant False FLVCR2@p.S46C 1 0.678571429 ENSG00000119686 chr14:75579109-75579109;C/G missense_variant False FLVCR2@p.S28W 1 0.622641509 ENSG00000119686 chr14:75579055-75579055;C/G missense_variant False FLVCR2@p.R348I 1 0.490196078 ENSG00000119686 chr14:75634932-75634932;G/T missense_variant False FLVCR2@p.M415I 1 0.4 ENSG00000119686 chr14:75640964-75640964;G/A missense_variant False FMN2@p.P1121L 1 0.366666667 ENSG00000155816 chr1:240208174-240208174;C/T missense_variant False FLVCR2@p.F112L 1 0.160714286 ENSG00000119686 chr14:75579308-75579308;C/G missense_variant False FLVCR1@p.G172D 1 0.549019608 ENSG00000162769 chr1:212858967-212858967;G/A missense_variant False FLVCR1@p.F108L 1 0.340425532 ENSG00000162769 chr1:212858776-212858776;C/A missense_variant False FLT4@p.V167D 1 0.408450704 ENSG00000037280 chr5:180630238-180630238;A/T missense_variant False FLT4@p.V1097M 1 0.314814815 ENSG00000037280 chr5:180614110-180614110;C/T missense_variant False FLT4@p.S1073Qfs*12 1 0.555555556 ENSG00000037280 chr5:180616369-180616370;-/G frameshift_variant False FMN1@p.D1202N 1 0.260115607 ENSG00000248905 chr15:32900029-32900029;C/T missense_variant False FMN1@p.E767Q 1 0.262857143 ENSG00000248905 chr15:32969402-32969402;C/G missense_variant False FMN1@p.R1368Q 1 0.444444444 ENSG00000248905 chr15:32798831-32798831;C/T missense_variant False FMN2@p.D1346H 1 0.189873418 ENSG00000155816 chr1:240211206-240211206;G/C missense_variant False FMN2@p.E1329Q 1 0.125 ENSG00000155816 chr1:240211155-240211155;G/C missense_variant False FMN2@p.E729K 1 0.088888889 ENSG00000155816 chr1:240206997-240206997;G/A missense_variant False FMN2@p.E751K 1 0.45 ENSG00000155816 chr1:240207063-240207063;G/A missense_variant False FMN2@p.G1137E 1 0.3125 ENSG00000155816 chr1:240208222-240208222;G/A missense_variant False FMN2@p.G172E 1 0.243243243 ENSG00000155816 chr1:240092624-240092624;G/A missense_variant False FMN2@p.G917E 1 0.056701031 ENSG00000155816 chr1:240207562-240207562;G/A missense_variant False FMN2@p.I807T 1 0.049019608 ENSG00000155816 chr1:240207232-240207232;T/C missense_variant False FMN2@p.K444N 1 0.219178082 ENSG00000155816 chr1:240093441-240093441;G/C missense_variant False FMN2@p.L1519V 1 0.164179104 ENSG00000155816 chr1:240330720-240330720;C/G missense_variant False FMN2@p.L570F 1 0.203539823 ENSG00000155816 chr1:240123271-240123271;C/T missense_variant False FMN2@p.L970I 1 0.159090909 ENSG00000155816 chr1:240207720-240207720;C/A missense_variant False FMN2@p.M1372T 1 0.430379747 ENSG00000155816 chr1:240257994-240257994;T/C missense_variant False FMN2@p.P1010L 1 0.447916667 ENSG00000155816 chr1:240207841-240207841;C/T missense_variant False FLNB@p.K1647E 1 0.107594937 ENSG00000136068 chr3:58138359-58138359;A/G missense_variant False FLNB@p.K1135N 1 0.539007092 ENSG00000136068 chr3:58123371-58123371;A/T missense_variant False FLNB@p.I37V 1 0.3 ENSG00000136068 chr3:58008673-58008673;A/G missense_variant False FLG2@p.S1327C 1 0.266025641 ENSG00000143520 chr1:152353806-152353806;G/C missense_variant False FLG2@p.T2229I 1 0.291208791 ENSG00000143520 chr1:152351100-152351100;G/A missense_variant False FLG2@p.S930N 1 0.067615658 ENSG00000143520 chr1:152354997-152354997;C/T missense_variant False FLG2@p.S629F 1 0.177042802 ENSG00000143520 chr1:152355900-152355900;G/A missense_variant False FLG2@p.S490F 1 0.258536585 ENSG00000143520 chr1:152356317-152356317;G/A missense_variant False FLG2@p.S458F 1 0.630188679 ENSG00000143520 chr1:152356413-152356413;G/A missense_variant False FLG2@p.S1556C 1 0.184549356 ENSG00000143520 chr1:152353119-152353119;G/C missense_variant False FLG2@p.S1125C 1 0.127012522 ENSG00000143520 chr1:152354412-152354412;G/C missense_variant False FLG2@p.K87M 1 0.127659574 ENSG00000143520 chr1:152357526-152357526;T/A missense_variant False FLG2@p.R1918K 1 0.072519084 ENSG00000143520 chr1:152352033-152352033;C/T missense_variant False FLG2@p.R1344T 1 0.125786164 ENSG00000143520 chr1:152353755-152353755;C/G missense_variant False FLG2@p.Q292L 1 0.090909091 ENSG00000143520 chr1:152356911-152356911;T/A missense_variant False FLG2@p.Q2300H 1 0.256544503 ENSG00000143520 chr1:152350886-152350886;C/G missense_variant False FLG2@p.Q1640H 1 0.11622276 ENSG00000143520 chr1:152352866-152352866;C/G missense_variant False FLG2@p.Q1605E 1 0.124203822 ENSG00000143520 chr1:152352973-152352973;G/C missense_variant False FLG@p.A2970E 1 0.13464991 ENSG00000143631 chr1:152305977-152305977;G/T missense_variant False FLG@p.D1599H 1 0.142259414 ENSG00000143631 chr1:152310091-152310091;C/G missense_variant False FLG@p.D2772E 1 0.227106227 ENSG00000143631 chr1:152306570-152306570;G/T missense_variant False FLG@p.D3150H 1 0.103004292 ENSG00000143631 chr1:152305438-152305438;C/G missense_variant False FLG@p.D3985N 1 0.325443787 ENSG00000143631 chr1:152302933-152302933;C/T missense_variant False FLG@p.D479H 1 0.092105263 ENSG00000143631 chr1:152313451-152313451;C/G missense_variant False FLG@p.D675H 1 0.221748401 ENSG00000143631 chr1:152312863-152312863;C/G missense_variant False FLG@p.E1023K 1 0.454703833 ENSG00000143631 chr1:152311819-152311819;C/T missense_variant False FLG@p.E111K 1 0.280373832 ENSG00000143631 chr1:152314555-152314555;C/T missense_variant False FLG@p.E1255D 1 0.07751938 ENSG00000143631 chr1:152311121-152311121;T/G missense_variant False FLG@p.E1580Q 1 0.125984252 ENSG00000143631 chr1:152310148-152310148;C/G missense_variant False FLG@p.E1995Q 1 0.115251898 ENSG00000143631 chr1:152308903-152308903;C/G missense_variant False FLG@p.E212Q 1 0.43902439 ENSG00000143631 chr1:152314252-152314252;C/G missense_variant False FLG@p.E2254Q 1 0.396303901 ENSG00000143631 chr1:152308126-152308126;C/G missense_variant False FLG@p.E2257Q 1 0.215805471 ENSG00000143631 chr1:152308117-152308117;C/G missense_variant False FLG@p.E2479A 1 0.073972603 ENSG00000143631 chr1:152307450-152307450;T/G missense_variant False FLG@p.E252Q 1 0.303030303 ENSG00000143631 chr1:152314132-152314132;C/G missense_variant False FLG2@p.Q1546K 1 0.12952381 ENSG00000143520 chr1:152353150-152353150;G/T missense_variant False FLG2@p.K1917R 1 0.066666667 ENSG00000143520 chr1:152352036-152352036;T/C missense_variant False FLG@p.E2905K 1 0.191082803 ENSG00000143631 chr1:152306173-152306173;C/T missense_variant False FLACC1@p.R30C 1 0.25 ENSG00000155749 chr2:201351317-201351317;G/A missense_variant False FLAD1@p.E464Q 1 0.210843373 ENSG00000160688 chr1:154990364-154990364;G/C missense_variant False FLAD1@p.E330K 1 0.78125 ENSG00000160688 chr1:154988720-154988720;G/A missense_variant False FLAD1@p.E299K 1 0.304347826 ENSG00000160688 chr1:154988627-154988627;G/A missense_variant False FLAD1@p.D524H 1 0.279661017 ENSG00000160688 chr1:154992728-154992728;G/C missense_variant False FLAD1@p.D154H 1 0.265625 ENSG00000160688 chr1:154988192-154988192;G/C missense_variant False FLACC1@p.R319K 1 1.0 ENSG00000155749 chr2:201289841-201289841;C/T missense_variant False FLACC1@p.R120T 1 0.241935484 ENSG00000155749 chr2:201346551-201346551;C/G missense_variant False FLG2@p.K1917N 1 0.110047847 ENSG00000143520 chr1:152352035-152352035;C/G missense_variant False FLACC1@p.H402Y 1 0.225806452 ENSG00000155749 chr2:201289464-201289464;G/A missense_variant False FLACC1@p.E250K 1 0.088235294 ENSG00000155749 chr2:201309178-201309178;C/T missense_variant False FKRP@p.I367M 1 0.205882353 ENSG00000181027 chr19:46756551-46756551;C/G missense_variant False FKRP@p.E389G 1 0.333333333 ENSG00000181027 chr19:46756616-46756616;A/G missense_variant False FKBPL@p.S135L 1 0.098159509 ENSG00000204315 chr6:32129377-32129377;G/A missense_variant False FKBPL@p.R231Q 1 0.4 ENSG00000204315 chr6:32129089-32129089;C/T missense_variant False FLAD1@p.G80R 1 0.205882353 ENSG00000160688 chr1:154983932-154983932;G/C missense_variant False FLAD1@p.Q90H 1 0.075471698 ENSG00000160688 chr1:154983964-154983964;G/C missense_variant False FLCN@p.Q167E 1 0.333333333 ENSG00000154803 chr17:17224041-17224041;G/C missense_variant False FLCN@p.R122L 1 0.485714286 ENSG00000154803 chr17:17226207-17226207;C/A missense_variant False FLCN@p.S62I 1 0.510204082 ENSG00000154803 chr17:17227953-17227953;C/A missense_variant False FLCN@p.T555A 1 0.317880795 ENSG00000154803 chr17:17213732-17213732;T/C missense_variant False FLG2@p.A1450G 1 0.176666667 ENSG00000143520 chr1:152353437-152353437;G/C missense_variant False FLG2@p.A2002T 1 0.188732394 ENSG00000143520 chr1:152351782-152351782;C/T missense_variant False FLG2@p.G1013S 1 0.308108108 ENSG00000143520 chr1:152354749-152354749;C/T missense_variant False FLG2@p.G1600D 1 0.526315789 ENSG00000143520 chr1:152352987-152352987;C/T missense_variant False FLG2@p.G1927R 1 0.164835165 ENSG00000143520 chr1:152352007-152352007;C/T missense_variant False FLG2@p.G2220E 1 0.276995305 ENSG00000143520 chr1:152351127-152351127;C/T missense_variant False FLG2@p.G328R 1 0.241758242 ENSG00000143520 chr1:152356804-152356804;C/G missense_variant False FLG2@p.G733D 1 0.035206918 ENSG00000143520 chr1:152355588-152355588;C/T missense_variant False FLG2@p.G753R 1 0.368421053 ENSG00000143520 chr1:152355529-152355529;C/T missense_variant False FLG2@p.H1240Y 1 0.626470588 ENSG00000143520 chr1:152354068-152354068;G/A missense_variant False FLG2@p.H1901Y 1 0.298804781 ENSG00000143520 chr1:152352085-152352085;G/A missense_variant False FLG@p.E253Q 1 0.147177419 ENSG00000143631 chr1:152314129-152314129;C/G missense_variant False FLG@p.E3024K 1 0.571428571 ENSG00000143631 chr1:152305816-152305816;C/T missense_variant False FLNB@p.I1992V 1 0.158730159 ENSG00000136068 chr3:58148735-58148735;A/G missense_variant False FLII@p.A800V 1 0.28125 ENSG00000177731 chr17:18247745-18247745;G/A missense_variant False FLNA@p.A2389V 1 0.277777778 ENSG00000196924 chrX:154350198-154350198;G/A missense_variant False FLNA@p.A1191V 1 0.215053763 ENSG00000196924 chrX:154360223-154360223;G/A missense_variant False FLNA@p.A1191P 1 0.211111111 ENSG00000196924 chrX:154360224-154360224;C/G missense_variant False FLII@p.M873I 1 0.357142857 ENSG00000177731 chr17:18247226-18247226;C/A missense_variant False FLII@p.E868Q 1 0.428571429 ENSG00000177731 chr17:18247243-18247243;C/G missense_variant False FLII@p.E575Q 1 0.376923077 ENSG00000177731 chr17:18250891-18250891;C/G missense_variant False FLI1@p.P314S 1 0.368421053 ENSG00000151702 chr11:128810569-128810569;C/T missense_variant False FLG@p.S2157L 1 0.225255973 ENSG00000143631 chr1:152308416-152308416;G/A missense_variant False FLI1@p.P112L 1 0.4 ENSG00000151702 chr11:128768222-128768222;C/T missense_variant False FLI1@p.G307E 1 0.230769231 ENSG00000151702 chr11:128810549-128810549;G/A missense_variant False FLI1@p.E148Q 1 0.05 ENSG00000151702 chr11:128772838-128772838;G/C missense_variant False FLG@p.S544F 1 0.115384615 ENSG00000143631 chr1:152313255-152313255;G/A missense_variant False FLG@p.S3915C 1 0.051282051 ENSG00000143631 chr1:152303142-152303142;G/C missense_variant False FLG@p.S3330T 1 0.169284468 ENSG00000143631 chr1:152304897-152304897;C/G missense_variant False FLNA@p.E567K 1 0.5 ENSG00000196924 chrX:154364950-154364950;C/T missense_variant False FLNA@p.R196Q 1 0.147058824 ENSG00000196924 chrX:154367877-154367877;C/T missense_variant False FLNA@p.R226Q 1 0.560165975 ENSG00000196924 chrX:154367684-154367684;C/T missense_variant False FLNA@p.R91G 1 0.625 ENSG00000196924 chrX:154370975-154370975;G/C missense_variant False FLNA@p.S1301L 1 0.345238095 ENSG00000196924 chrX:154359809-154359809;G/A missense_variant False FLNA@p.V2230L 1 0.337078652 ENSG00000196924 chrX:154352262-154352262;C/A missense_variant False FLNA@p.V2535A 1 0.2625 ENSG00000196924 chrX:154349514-154349514;A/G missense_variant False FLNA@p.V736M 1 0.793814433 ENSG00000196924 chrX:154364096-154364096;C/T missense_variant False FLNB@p.D1539Y 1 0.419117647 ENSG00000136068 chr3:58134716-58134716;G/T missense_variant False FLNB@p.D1543N 1 0.18852459 ENSG00000136068 chr3:58134728-58134728;G/A missense_variant False FLNB@p.D1639N 1 0.87755102 ENSG00000136068 chr3:58138335-58138335;G/A missense_variant False FLNB@p.D408Y 1 0.31372549 ENSG00000136068 chr3:58098785-58098785;G/T missense_variant False FLNB@p.E265K 1 0.304 ENSG00000136068 chr3:58094841-58094841;G/A missense_variant False FLNB@p.E790K 1 0.133027523 ENSG00000136068 chr3:58110054-58110054;G/A missense_variant False FLNB@p.G1408Afs*8 1 0.142857143 ENSG00000136068 chr3:58126758-58126758;C/- frameshift_variant False FLNB@p.G2457S 1 0.202702703 ENSG00000136068 chr3:58168610-58168610;G/A missense_variant False FLNB@p.G852S 1 0.272727273 ENSG00000136068 chr3:58111860-58111860;G/A missense_variant False FLG@p.S2532L 1 0.109565217 ENSG00000143631 chr1:152307291-152307291;G/A missense_variant False FLG@p.S2107C 1 0.197916667 ENSG00000143631 chr1:152308566-152308566;G/C missense_variant False FLG@p.E3184K 1 0.0703125 ENSG00000143631 chr1:152305336-152305336;C/T missense_variant False FLG@p.G2207R 1 0.033793103 ENSG00000143631 chr1:152308267-152308267;C/G missense_variant False FLG@p.H1492R 1 0.13721619 ENSG00000143631 chr1:152310411-152310411;T/C missense_variant False FLG@p.G3990R 1 0.281553398 ENSG00000143631 chr1:152302918-152302918;C/T missense_variant False FLG@p.G3805E 1 0.18957346 ENSG00000143631 chr1:152303472-152303472;C/T missense_variant False FLG@p.G3212R 1 0.150561798 ENSG00000143631 chr1:152305252-152305252;C/T missense_variant False FLG@p.G305E 1 0.087378641 ENSG00000143631 chr1:152313972-152313972;C/T missense_variant False FLG@p.G2475A 1 0.288537549 ENSG00000143631 chr1:152307462-152307462;C/G missense_variant False FLG@p.G1536A 1 0.14244186 ENSG00000143631 chr1:152310279-152310279;C/G missense_variant False FLG@p.S1704C 1 0.118226601 ENSG00000143631 chr1:152309775-152309775;G/C missense_variant False FLG@p.G1305S 1 0.243243243 ENSG00000143631 chr1:152310973-152310973;C/T missense_variant False FLG@p.G1108E 1 0.179104478 ENSG00000143631 chr1:152311563-152311563;C/T missense_variant False FLG@p.E3881Q 1 0.193548387 ENSG00000143631 chr1:152303245-152303245;C/G missense_variant False FLG@p.E3668K 1 0.112754159 ENSG00000143631 chr1:152303884-152303884;C/T missense_variant False FLG@p.E3593K 1 0.203846154 ENSG00000143631 chr1:152304109-152304109;C/T missense_variant False FLG@p.E3553Q 1 0.084291188 ENSG00000143631 chr1:152304229-152304229;C/G missense_variant False FLG@p.H1843D 1 0.470982143 ENSG00000143631 chr1:152309359-152309359;G/C missense_variant False FLG@p.H2491Q 1 0.232893157 ENSG00000143631 chr1:152307413-152307413;A/C missense_variant False FLG@p.H3400N 1 0.184684685 ENSG00000143631 chr1:152304688-152304688;G/T missense_variant False FLG@p.K109E 1 0.053956835 ENSG00000143631 chr1:152314561-152314561;T/C missense_variant False FLG@p.P1742H 1 0.098101266 ENSG00000143631 chr1:152309661-152309661;G/T missense_variant False FLG@p.Q2459E 1 0.110395584 ENSG00000143631 chr1:152307511-152307511;G/C missense_variant False FLG@p.Q715E 1 0.573434125 ENSG00000143631 chr1:152312743-152312743;G/C missense_variant False FLG@p.R1264K 1 0.266666667 ENSG00000143631 chr1:152311095-152311095;C/T missense_variant False FLG@p.R1316T 1 0.421686747 ENSG00000143631 chr1:152310939-152310939;C/G missense_variant False FLG@p.R1545T 1 0.308176101 ENSG00000143631 chr1:152310252-152310252;C/G missense_variant False FLG@p.R2600K 1 0.1 ENSG00000143631 chr1:152307087-152307087;C/T missense_variant False FLG@p.R292C 1 0.251592357 ENSG00000143631 chr1:152314012-152314012;G/A missense_variant False FLG@p.R817T 1 0.21719457 ENSG00000143631 chr1:152312436-152312436;C/G missense_variant False FLG@p.S1191T 1 0.108829569 ENSG00000143631 chr1:152311315-152311315;A/T missense_variant False FLG@p.S1242C 1 0.042666667 ENSG00000143631 chr1:152311161-152311161;G/C missense_variant False FLG@p.S141F 1 0.062992126 ENSG00000143631 chr1:152314464-152314464;G/A missense_variant False FLG@p.S1557L 1 0.331908832 ENSG00000143631 chr1:152310216-152310216;G/A missense_variant False FMO3@p.H513Y 1 0.564102564 ENSG00000007933 chr1:171117380-171117380;C/T missense_variant False FMO3@p.P445S 1 0.427083333 ENSG00000007933 chr1:171117176-171117176;C/T missense_variant False FKBP9@p.S158I 1 0.256756757 ENSG00000122642 chr7:32975287-32975287;G/T missense_variant False FOXD4L3@p.R328T 1 0.153846154 ENSG00000187559 chr9:68303934-68303934;G/C missense_variant False FOXD4L5@p.R318Q 1 0.166666667 ENSG00000204779 chr9:65283425-65283425;C/T missense_variant False FOXD4L5@p.L330F 1 0.240963855 ENSG00000204779 chr9:65283388-65283388;T/A missense_variant False FOXD4L5@p.I27M 1 0.086956522 ENSG00000204779 chr9:65284297-65284297;G/C missense_variant False FOXD4L4@p.P255R 1 0.083832335 ENSG00000184659 chr9:65737909-65737909;C/G missense_variant False FOXD4L4@p.H302D 1 0.12033195 ENSG00000184659 chr9:65738049-65738049;C/G missense_variant False FOXD4L4@p.E172K 1 0.636363636 ENSG00000184659 chr9:65737659-65737659;G/A missense_variant False FOXD4L3@p.E38K 1 0.31092437 ENSG00000187559 chr9:68303063-68303063;G/A missense_variant False FOXD4L6@p.C406W 1 0.155555556 ENSG00000273514 chr9:41127166-41127166;G/C missense_variant False FOXD4L1@p.S99C 1 0.12295082 ENSG00000184492 chr2:113499552-113499552;C/G missense_variant False FOXD4L1@p.E38K 1 0.421052632 ENSG00000184492 chr2:113499368-113499368;G/A missense_variant False FOXD4@p.S409W 1 0.592592593 ENSG00000170122 chr9:116894-116894;G/C missense_variant False FOXD4@p.P421T 1 0.172413793 ENSG00000170122 chr9:116859-116859;G/T missense_variant False FOXD4@p.G346A 1 0.204545455 ENSG00000170122 chr9:117083-117083;C/G missense_variant False FOXD2@p.F185L 1 0.238095238 ENSG00000186564 chr1:47438690-47438690;C/G missense_variant False FOXD4L5@p.S84L 1 0.065714286 ENSG00000204779 chr9:65284127-65284127;G/A missense_variant False FOXE1@p.E117K 1 0.363636364 ENSG00000178919 chr9:97854263-97854263;G/A missense_variant False FMO3@p.S111F 1 0.25 ENSG00000007933 chr1:171107685-171107685;C/T missense_variant False FOXF2@p.S104L 1 0.235294118 ENSG00000137273 chr6:1390258-1390258;C/T missense_variant False FOXH1@p.Y74C 1 0.192307692 ENSG00000160973 chr8:144475215-144475215;T/C missense_variant False FOXG1@p.S455F 1 0.507936508 ENSG00000176165 chr14:28768643-28768643;C/T missense_variant False FOXG1@p.S449L 1 0.343434343 ENSG00000176165 chr14:28768625-28768625;C/T missense_variant False FOXG1@p.Q478E 1 0.30952381 ENSG00000176165 chr14:28768711-28768711;C/G missense_variant False FOXG1@p.K213N 1 0.333333333 ENSG00000176165 chr14:28767918-28767918;G/T missense_variant False FOXG1@p.F184L 1 0.956521739 ENSG00000176165 chr14:28767831-28767831;C/G missense_variant False FOXF1@p.R145Q 1 0.40625 ENSG00000103241 chr16:86511003-86511003;G/A missense_variant False FOXE1@p.E71K 1 0.466666667 ENSG00000178919 chr9:97854125-97854125;G/A missense_variant False FOXF1@p.L300M 1 0.631578947 ENSG00000103241 chr16:86511467-86511467;C/A missense_variant False FOXE3@p.L84V 1 0.28125 ENSG00000186790 chr1:47416565-47416565;C/G missense_variant False FOXE1@p.S152L 1 0.142857143 ENSG00000178919 chr9:97854369-97854369;C/T missense_variant False FOXE1@p.R146C 1 0.46875 ENSG00000178919 chr9:97854350-97854350;C/T missense_variant False FOXE1@p.G124S 1 0.163636364 ENSG00000178919 chr9:97854284-97854284;G/A missense_variant False FOXE1@p.F142L 1 0.375 ENSG00000178919 chr9:97854340-97854340;C/A missense_variant False FOXC2@p.S55C 1 0.119402985 ENSG00000176692 chr16:86567499-86567499;C/G missense_variant False FOXC2@p.P188L 1 0.285714286 ENSG00000176692 chr16:86567898-86567898;C/T missense_variant False FOXC2@p.E208K 1 0.3 ENSG00000176692 chr16:86567957-86567957;G/A missense_variant False FOSB@p.G231E 1 0.388888889 ENSG00000125740 chr19:45472687-45472687;G/A missense_variant False FOSL2@p.Q207Cfs*14 1 0.193877551 ENSG00000075426 chr2:28412082-28412083;-/CT frameshift_variant False FOSL2@p.L206Pfs*53 1 0.147727273 ENSG00000075426 chr2:28412082-28412083;-/C frameshift_variant False FOSL2@p.K177del 1 0.173913043 ENSG00000075426 chr2:28411994-28411996;AGA/- inframe_deletion False FOSL2@p.I249Sfs*19 1 0.217948718 ENSG00000075426 chr2:28412209-28412209;C/- frameshift_variant False FOSL1@p.R84L 1 0.254901961 ENSG00000175592 chr11:65896855-65896855;C/A missense_variant False FOSL1@p.P96L 1 0.166666667 ENSG00000175592 chr11:65896819-65896819;G/A missense_variant False FOS@p.S364dup 1 0.35 ENSG00000170345 chr14:75281362-75281363;-/GCA inframe_insertion False FOXC1@p.A63T 1 0.083333333 ENSG00000054598 chr6:1610632-1610632;G/A missense_variant False FOS@p.M262I 1 0.558823529 ENSG00000170345 chr14:75281067-75281067;G/T missense_variant False FOLR3@p.Q211H 1 0.162162162 ENSG00000110203 chr11:72139726-72139726;G/C missense_variant False FOLR3@p.L188R 1 0.098039216 ENSG00000110203 chr11:72139656-72139656;T/G missense_variant False FOLR3@p.E179Q 1 0.153846154 ENSG00000110203 chr11:72139628-72139628;G/C missense_variant False FOLR3@p.C189S 1 0.388888889 ENSG00000110203 chr11:72139658-72139658;T/A missense_variant False FOLR2@p.E233Q 1 0.066666667 ENSG00000165457 chr11:72221691-72221691;G/C missense_variant False FOSL2@p.S12W 1 0.45 ENSG00000075426 chr2:28393755-28393755;C/G missense_variant False FOXA1@p.D226N 1 0.525641026 ENSG00000129514 chr14:37592108-37592108;C/T missense_variant False FOXA1@p.E410Afs*3 1 0.24 ENSG00000129514 chr14:37591553-37591557;GCTCC/- frameshift_variant False FOXA1@p.F224L 1 0.361445783 ENSG00000129514 chr14:37592112-37592112;G/T missense_variant False FOXA1@p.M41I 1 0.125 ENSG00000129514 chr14:37592661-37592661;C/T missense_variant False FOXA1@p.M44Ifs*183 1 0.14953271 ENSG00000129514 chr14:37592652-37592653;-/A frameshift_variant False FOXA1@p.M59I 1 0.5125 ENSG00000129514 chr14:37592607-37592607;C/T missense_variant False FOXA1@p.P205L 1 0.477941176 ENSG00000129514 chr14:37592170-37592170;G/A missense_variant False FOXA1@p.R213Lfs*10 1 0.4 ENSG00000129514 chr14:37592136-37592146;GTTCTGCCAGC/- frameshift_variant False FOXA1@p.S139Afs*55 1 0.2 ENSG00000129514 chr14:37592369-37592369;T/- frameshift_variant False FOXA1@p.Y243Tfs*78 1 0.460674157 ENSG00000129514 chr14:37592058-37592058;G/- frameshift_variant False FOXA2@p.Q174H 1 0.257142857 ENSG00000125798 chr20:22582702-22582702;C/G missense_variant False FOXA2@p.S306W 1 0.304347826 ENSG00000125798 chr20:22582307-22582307;G/C missense_variant False FOXA3@p.P119L 1 0.104575163 ENSG00000170608 chr19:45872361-45872361;C/T missense_variant False FOXA3@p.R166C 1 0.236363636 ENSG00000170608 chr19:45872501-45872501;C/T missense_variant False FOXA3@p.S121C 1 0.093023256 ENSG00000170608 chr19:45872367-45872367;C/G missense_variant False FOXB2@p.A88V 1 0.8 ENSG00000204612 chr9:77019917-77019917;C/T missense_variant False FOXJ2@p.D566H 1 0.25 ENSG00000065970 chr12:8052821-8052821;G/C missense_variant False FOXJ2@p.F241L 1 0.431111111 ENSG00000065970 chr12:8044864-8044864;C/A missense_variant False FOXJ2@p.K240E 1 0.161073826 ENSG00000065970 chr12:8044859-8044859;A/G missense_variant False FOXO3@p.R248Q 1 0.133333333 ENSG00000118689 chr6:108663576-108663576;G/A missense_variant False FOXP2@p.E676K 1 0.139240506 ENSG00000128573 chr7:114689804-114689804;G/A missense_variant False FOXP1@p.R514C 1 0.509433962 ENSG00000285708 chr3:70972667-70972667;G/A missense_variant False FOXP1@p.M345L 1 0.138461538 ENSG00000285708 chr3:71001001-71001001;T/A missense_variant False FOXP1@p.E330Q 1 0.073333333 ENSG00000285708 chr3:71001046-71001046;C/G missense_variant False FOXO4@p.T134I 1 0.315789474 ENSG00000184481 chrX:71096929-71096929;C/T missense_variant False FOXO3@p.S412C 1 0.3125 ENSG00000118689 chr6:108664068-108664068;C/G missense_variant False FOXO3@p.P397S 1 0.277777778 ENSG00000118689 chr6:108664022-108664022;C/T missense_variant False FOXN2@p.Q26H 1 0.351851852 ENSG00000170802 chr2:48346292-48346292;G/C missense_variant False FOXO1@p.W209C 1 0.48 ENSG00000150907 chr13:40665586-40665586;C/G missense_variant False FOXO1@p.L414S 1 0.204724409 ENSG00000150907 chr13:40560250-40560250;A/G missense_variant False FOXN4@p.S375C 1 0.333333333 ENSG00000139445 chr12:109281577-109281577;G/C missense_variant False FOXN3@p.M258I 1 0.541666667 ENSG00000053254 chr14:89190421-89190421;C/G missense_variant False FOXN3@p.G15R 1 0.125 ENSG00000053254 chr14:89412434-89412434;C/T missense_variant False FOXN3@p.E266K 1 0.296296296 ENSG00000053254 chr14:89190399-89190399;C/T missense_variant False FOXP2@p.H313Y 1 0.237113402 ENSG00000128573 chr7:114642571-114642571;C/T missense_variant False FOXP2@p.K499E 1 0.123595506 ENSG00000128573 chr7:114659382-114659382;A/G missense_variant False FOXP2@p.R536L 1 0.10989011 ENSG00000128573 chr7:114659633-114659633;G/T missense_variant False FOXP2@p.R543C 1 0.156521739 ENSG00000128573 chr7:114659653-114659653;C/T missense_variant False FOXP2@p.S557C 1 0.323076923 ENSG00000128573 chr7:114662086-114662086;A/T missense_variant False FOXP2@p.S78I 1 0.202380952 ENSG00000128573 chr7:114534681-114534681;G/T missense_variant False FOXP2@p.V91M 1 0.143884892 ENSG00000128573 chr7:114628552-114628552;G/A missense_variant False FOXP3@p.G148C 1 0.849056604 ENSG00000290184 chrX:49257439-49257439;C/A missense_variant False FOXP4@p.A6D 1 0.144444444 ENSG00000137166 chr6:41565777-41565777;C/A missense_variant False FOXP4@p.D606N 1 0.235294118 ENSG00000137166 chr6:41597871-41597871;G/A missense_variant False FOXP4@p.D91N 1 0.210526316 ENSG00000137166 chr6:41578052-41578052;G/A missense_variant False FOXQ1@p.E107Afs*35 1 0.466666667 ENSG00000164379 chr6:1313020-1313021;-/GC frameshift_variant False FOXQ1@p.F153L 1 0.526315789 ENSG00000164379 chr6:1313163-1313163;C/A missense_variant False FOXQ1@p.L181V 1 0.20754717 ENSG00000164379 chr6:1313245-1313245;C/G missense_variant False FOXQ1@p.S166F 1 0.230769231 ENSG00000164379 chr6:1313201-1313201;C/T missense_variant False FOXQ1@p.S200Kfs*249 1 0.588235294 ENSG00000164379 chr6:1313301-1313302;-/A frameshift_variant False FOXQ1@p.Y122Lfs*327 1 0.139534884 ENSG00000164379 chr6:1313061-1313062;-/C frameshift_variant False FOXN3@p.E194Q 1 0.317647059 ENSG00000053254 chr14:89350772-89350772;C/G missense_variant False FOXN2@p.I81V 1 0.561403509 ENSG00000170802 chr2:48346455-48346455;A/G missense_variant False FOXJ2@p.M365L 1 0.090909091 ENSG00000065970 chr12:8048157-8048157;A/T missense_variant False FOXJ3@p.P579A 1 0.242424242 ENSG00000198815 chr1:42181935-42181935;G/C missense_variant False FOXL2NB@p.P75L 1 0.321428571 ENSG00000206262 chr3:138950268-138950268;C/T missense_variant False FOXL1@p.F308L 1 0.464285714 ENSG00000176678 chr16:86579647-86579647;C/G missense_variant False FOXK2@p.T548M 1 0.171171171 ENSG00000141568 chr17:82587129-82587129;C/T missense_variant False FOXK2@p.S53L 1 0.340909091 ENSG00000141568 chr17:82520046-82520046;C/T missense_variant False FOXK2@p.S338C 1 0.102564103 ENSG00000141568 chr17:82582844-82582844;C/G missense_variant False FOXK2@p.L312V 1 0.197674419 ENSG00000141568 chr17:82582765-82582765;C/G missense_variant False FOXJ3@p.P267S 1 0.042253521 ENSG00000198815 chr1:42195025-42195025;G/A missense_variant False FOXN2@p.D53H 1 0.160493827 ENSG00000170802 chr2:48346371-48346371;G/C missense_variant False FOXJ3@p.M190I 1 0.6 ENSG00000198815 chr1:42205822-42205822;C/G missense_variant False FOXJ3@p.G189E 1 0.467532468 ENSG00000198815 chr1:42205826-42205826;C/T missense_variant False FOXJ3@p.E488Q 1 0.632653061 ENSG00000198815 chr1:42188920-42188920;C/G missense_variant False FOXJ2@p.V211L 1 0.457446809 ENSG00000065970 chr12:8044772-8044772;G/T missense_variant False FOXJ2@p.R68Q 1 0.342105263 ENSG00000065970 chr12:8040035-8040035;G/A missense_variant False FOXJ2@p.Q301E 1 0.384615385 ENSG00000065970 chr12:8047965-8047965;C/G missense_variant False FOXL2NB@p.S90F 1 0.147058824 ENSG00000206262 chr3:138950313-138950313;C/T missense_variant False FOXM1@p.D751N 1 0.291666667 ENSG00000111206 chr12:2858679-2858679;C/T missense_variant False FOXM1@p.E26K 1 0.48255814 ENSG00000111206 chr12:2874403-2874403;C/T missense_variant False FOXM1@p.E441Q 1 0.125 ENSG00000111206 chr12:2859609-2859609;C/G missense_variant False FOXM1@p.L318F 1 0.252427184 ENSG00000111206 chr12:2866414-2866414;C/G missense_variant False FOXM1@p.P225Q 1 0.181818182 ENSG00000111206 chr12:2868735-2868735;G/T missense_variant False FOXM1@p.Q230H 1 0.047619048 ENSG00000111206 chr12:2868719-2868719;C/G missense_variant False FOXM1@p.S581C 1 0.084745763 ENSG00000111206 chr12:2859188-2859188;G/C missense_variant False FOXM1@p.S695L 1 0.359550562 ENSG00000111206 chr12:2858846-2858846;G/A missense_variant False FOXM1@p.W624C 1 0.24 ENSG00000111206 chr12:2859058-2859058;C/A missense_variant False FOXN1@p.G45S 1 0.562162162 ENSG00000109101 chr17:28524512-28524512;G/A missense_variant False FOXN1@p.G523A 1 0.152173913 ENSG00000109101 chr17:28535139-28535139;G/C missense_variant False FOXN1@p.P83S 1 0.558139535 ENSG00000109101 chr17:28524626-28524626;C/T missense_variant False FOXN1@p.S535L 1 0.3125 ENSG00000109101 chr17:28535175-28535175;C/T missense_variant False FOXN2@p.D360N 1 0.212962963 ENSG00000170802 chr2:48375225-48375225;G/A missense_variant False FOXN2@p.D364Vfs*50 1 0.333333333 ENSG00000170802 chr2:48375236-48375239;AGAC/- frameshift_variant False FOXN2@p.D394Y 1 0.185185185 ENSG00000170802 chr2:48375327-48375327;G/T missense_variant False FOLH1@p.R605K 1 0.298245614 ENSG00000086205 chr11:49154302-49154302;C/T missense_variant False FOLH1@p.R17C 1 0.307692308 ENSG00000086205 chr11:49208361-49208361;G/A missense_variant False FOLH1@p.P293H 1 0.173076923 ENSG00000086205 chr11:49183191-49183191;G/T missense_variant False FN3KRP@p.S20L 1 0.3125 ENSG00000141560 chr17:82716814-82716814;C/T missense_variant False FNBP1@p.S50L 1 0.41025641 ENSG00000187239 chr9:129979366-129979366;G/A missense_variant False FNBP1@p.S265L 1 0.481481481 ENSG00000187239 chr9:129925153-129925153;G/A missense_variant False FNBP1@p.Q289E 1 0.37037037 ENSG00000187239 chr9:129925082-129925082;G/C missense_variant False FNBP1@p.E566K 1 0.271028037 ENSG00000187239 chr9:129895988-129895988;C/T missense_variant False FNBP1@p.D596Y 1 0.222222222 ENSG00000187239 chr9:129895898-129895898;C/A missense_variant False FNBP1@p.A348G 1 0.25 ENSG00000187239 chr9:129923971-129923971;G/C missense_variant False FN3KRP@p.L196M 1 0.284153005 ENSG00000141560 chr17:82726597-82726597;C/A missense_variant False FN1@p.S1220C 1 0.13559322 ENSG00000115414 chr2:215394665-215394665;G/C missense_variant False FN3K@p.L218V 1 0.114285714 ENSG00000167363 chr17:82750477-82750477;C/G missense_variant False FN3K@p.E208Q 1 0.244604317 ENSG00000167363 chr17:82750447-82750447;G/C missense_variant False FN1@p.Y1698H 1 0.136645963 ENSG00000115414 chr2:215380880-215380880;A/G missense_variant False FN1@p.V747M 1 0.341463415 ENSG00000115414 chr2:215409623-215409623;C/T missense_variant False FN1@p.V1155F 1 0.831168831 ENSG00000115414 chr2:215397734-215397734;C/A missense_variant False FN1@p.T700P 1 0.204081633 ENSG00000115414 chr2:215409958-215409958;T/G missense_variant False FNBP1@p.V295M 1 0.219512195 ENSG00000187239 chr9:129925064-129925064;C/T missense_variant False FNBP1L@p.D259H 1 0.279069767 ENSG00000137942 chr1:93533057-93533057;G/C missense_variant False FNBP1L@p.L598V 1 0.35 ENSG00000137942 chr1:93551087-93551087;C/G missense_variant False FNBP4@p.D118N 1 0.314285714 ENSG00000109920 chr11:47754626-47754626;C/T missense_variant False FNBP4@p.D658H 1 0.272277228 ENSG00000109920 chr11:47731410-47731410;C/G missense_variant False FNBP4@p.E216K 1 0.721518987 ENSG00000109920 chr11:47751282-47751282;C/T missense_variant False FNBP4@p.E216Q 1 0.365384615 ENSG00000109920 chr11:47751282-47751282;C/G missense_variant False FNBP4@p.E299K 1 0.293333333 ENSG00000109920 chr11:47750927-47750927;C/T missense_variant False FNBP4@p.E332Q 1 0.451612903 ENSG00000109920 chr11:47746307-47746307;C/G missense_variant False FNBP4@p.E493K 1 0.387096774 ENSG00000109920 chr11:47736720-47736720;C/T missense_variant False FNBP4@p.E502D 1 0.489361702 ENSG00000109920 chr11:47736691-47736691;C/A missense_variant False FNBP4@p.E587K 1 0.303030303 ENSG00000109920 chr11:47732598-47732598;C/T missense_variant False FNBP4@p.E630K 1 0.218181818 ENSG00000109920 chr11:47731494-47731494;C/T missense_variant False FNBP4@p.E992Q 1 0.404761905 ENSG00000109920 chr11:47717502-47717502;C/G missense_variant False FNBP4@p.G754E 1 0.211111111 ENSG00000109920 chr11:47724526-47724526;C/T missense_variant False FNBP4@p.K790N 1 0.306122449 ENSG00000109920 chr11:47724122-47724122;C/A missense_variant False FNBP4@p.Q247E 1 0.105263158 ENSG00000109920 chr11:47751189-47751189;G/C missense_variant False FN1@p.S742L 1 0.295081967 ENSG00000115414 chr2:215409637-215409637;G/A missense_variant False FN1@p.R830C 1 0.144927536 ENSG00000115414 chr2:215408138-215408138;G/A missense_variant False FNBP4@p.S472F 1 0.428571429 ENSG00000109920 chr11:47743994-47743994;G/A missense_variant False FMO4@p.R547T 1 0.205882353 ENSG00000076258 chr1:171341802-171341802;G/C missense_variant False FMO5@p.S214I 1 0.23255814 ENSG00000131781 chr1:147209041-147209041;C/A missense_variant False FMO5@p.L366V 1 0.291666667 ENSG00000131781 chr1:147201239-147201239;G/C missense_variant False FMO5@p.L339V 1 0.253521127 ENSG00000131781 chr1:147201320-147201320;G/C missense_variant False FMO5@p.E422D 1 0.303030303 ENSG00000131781 chr1:147187236-147187236;C/G missense_variant False FMO5@p.A522V 1 0.098039216 ENSG00000131781 chr1:147186937-147186937;G/A missense_variant False FMO4@p.T331I 1 0.421052632 ENSG00000076258 chr1:171334575-171334575;C/T missense_variant False FMO4@p.R541K 1 0.11627907 ENSG00000076258 chr1:171341784-171341784;G/A missense_variant False FN1@p.R646T 1 0.615384615 ENSG00000115414 chr2:215414841-215414841;C/G missense_variant False FMO4@p.E361Q 1 0.101851852 ENSG00000076258 chr1:171334664-171334664;G/C missense_variant False FMO4@p.E175G 1 0.047619048 ENSG00000076258 chr1:171331679-171331679;A/G missense_variant False FMO4@p.D491H 1 0.317460317 ENSG00000076258 chr1:171341633-171341633;G/C missense_variant False FMO4@p.D141H 1 0.360599078 ENSG00000076258 chr1:171324237-171324237;G/C missense_variant False FMO4@p.D118H 1 0.327455919 ENSG00000076258 chr1:171324168-171324168;G/C missense_variant False FMO3@p.W514C 1 0.247058824 ENSG00000007933 chr1:171117385-171117385;G/C missense_variant False FMOD@p.E59K 1 0.25 ENSG00000122176 chr1:203348096-203348096;C/T missense_variant False FMOD@p.R223Q 1 0.274074074 ENSG00000122176 chr1:203347603-203347603;C/T missense_variant False FMOD@p.V259I 1 0.177419355 ENSG00000122176 chr1:203347496-203347496;C/T missense_variant False FMR1NB@p.D215N 1 0.342857143 ENSG00000176988 chrX:148024875-148024875;G/A missense_variant False FMR1NB@p.R232Efs*73 1 0.71875 ENSG00000176988 chrX:148024924-148024924;A/- frameshift_variant False FN1@p.A1899T 1 0.380952381 ENSG00000115414 chr2:215375638-215375638;C/T missense_variant False FN1@p.D2142N 1 0.25974026 ENSG00000115414 chr2:215371926-215371926;C/T missense_variant False FN1@p.D796Y 1 0.244897959 ENSG00000115414 chr2:215408340-215408340;C/A missense_variant False FN1@p.E2285K 1 0.173553719 ENSG00000115414 chr2:215365523-215365523;C/T missense_variant False FN1@p.E618Q 1 0.188679245 ENSG00000115414 chr2:215414926-215414926;C/G missense_variant False FN1@p.I1293V 1 0.376237624 ENSG00000115414 chr2:215391734-215391734;T/C missense_variant False FN1@p.L2005V 1 0.544117647 ENSG00000115414 chr2:215372337-215372337;G/C missense_variant False FN1@p.L2198F 1 0.483870968 ENSG00000115414 chr2:215368014-215368014;C/G missense_variant False FN1@p.M2273I 1 0.248062016 ENSG00000115414 chr2:215365557-215365557;C/T missense_variant False FN1@p.Q2035E 1 0.129032258 ENSG00000115414 chr2:215372247-215372247;G/C missense_variant False FN1@p.R2385Q 1 0.137614679 ENSG00000115414 chr2:215361562-215361562;C/T missense_variant False FN1@p.R265Q 1 0.229166667 ENSG00000115414 chr2:215428230-215428230;C/T missense_variant False FNBP4@p.S285Y 1 0.387096774 ENSG00000109920 chr11:47750968-47750968;G/T missense_variant False FNBP4@p.S945C 1 0.333333333 ENSG00000109920 chr11:47720058-47720058;G/C missense_variant False FOLH1@p.I691M 1 0.2 ENSG00000086205 chr11:49146936-49146936;G/C missense_variant False FNDC8@p.D83H 1 0.339506173 ENSG00000073598 chr17:35127079-35127079;G/C missense_variant False FNIP1@p.R768Q 1 0.360655738 ENSG00000217128 chr5:131672141-131672141;C/T missense_variant False FNIP1@p.P1043R 1 0.135135135 ENSG00000217128 chr5:131651980-131651980;G/C missense_variant False FNIP1@p.K897T 1 0.444444444 ENSG00000217128 chr5:131671754-131671754;T/G missense_variant False FNIP1@p.D690G 1 0.680851064 ENSG00000217128 chr5:131672375-131672375;T/C missense_variant False FNDC8@p.Y200H 1 0.444444444 ENSG00000073598 chr17:35129434-35129434;T/C missense_variant False FNDC8@p.E117K 1 0.12992126 ENSG00000073598 chr17:35127181-35127181;G/A missense_variant False FNDC7@p.V293A 1 0.280254777 ENSG00000143107 chr1:108725771-108725771;T/C missense_variant False FNDC3B@p.R202H 1 0.393442623 ENSG00000075420 chr3:172251356-172251356;G/A missense_variant False FNDC7@p.S695L 1 0.18852459 ENSG00000143107 chr1:108733476-108733476;C/T missense_variant False FNDC7@p.S265L 1 0.238095238 ENSG00000143107 chr1:108722530-108722530;C/T missense_variant False FNDC7@p.H329L 1 0.485714286 ENSG00000143107 chr1:108725879-108725879;A/T missense_variant False FNDC7@p.F345L 1 0.328467153 ENSG00000143107 chr1:108725928-108725928;C/A missense_variant False FNDC7@p.E505Q 1 0.09375 ENSG00000143107 chr1:108728775-108728775;G/C missense_variant False FNDC3B@p.T778S 1 0.198198198 ENSG00000075420 chr3:172346408-172346408;A/T missense_variant False FNIP1@p.S1080F 1 0.371428571 ENSG00000217128 chr5:131651869-131651869;G/A missense_variant False FNIP1@p.S220C 1 0.53125 ENSG00000217128 chr5:131710625-131710625;G/C missense_variant False FNIP1@p.S741L 1 0.095652174 ENSG00000217128 chr5:131672222-131672222;G/A missense_variant False FNIP2@p.D792H 1 0.087912088 ENSG00000052795 chr4:158869010-158869010;G/C missense_variant False FNIP2@p.E297K 1 0.565656566 ENSG00000052795 chr4:158859088-158859088;G/A missense_variant False FNIP2@p.E46K 1 0.578947368 ENSG00000052795 chr4:158825944-158825944;G/A missense_variant False FNIP2@p.E603Q 1 0.204545455 ENSG00000052795 chr4:158868443-158868443;G/C missense_variant False FNIP2@p.G59D 1 0.305785124 ENSG00000052795 chr4:158825984-158825984;G/A missense_variant False FNIP2@p.G661V 1 0.517241379 ENSG00000052795 chr4:158868618-158868618;G/T missense_variant False FNIP2@p.H591L 1 0.296296296 ENSG00000052795 chr4:158868408-158868408;A/T missense_variant False FNIP2@p.M738Wfs*5 1 0.184782609 ENSG00000052795 chr4:158868842-158868842;A/- frameshift_variant False FO393400.1@p.Q115H 1 0.075 None chr20:32704896-32704896;C/G missense_variant False FOCAD@p.E1210K 1 0.966101695 ENSG00000188352 chr9:20946773-20946773;G/A missense_variant False FOCAD@p.E582D 1 0.136363636 ENSG00000188352 chr9:20821024-20821024;G/C missense_variant False FOCAD@p.I1298V 1 0.425 ENSG00000188352 chr9:20949619-20949619;A/G missense_variant False FOCAD@p.S757C 1 0.510638298 ENSG00000188352 chr9:20874760-20874760;C/G missense_variant False FOLH1@p.F90S 1 0.238095238 ENSG00000086205 chr11:49200397-49200397;A/G missense_variant False FNDC3B@p.T567M 1 0.146341463 ENSG00000075420 chr3:172335002-172335002;C/T missense_variant False FNDC3B@p.I1072M 1 0.4 ENSG00000075420 chr3:172381006-172381006;T/G missense_variant False FNDC11@p.D191N 1 0.079365079 ENSG00000125531 chr20:63556234-63556234;G/A missense_variant False FNDC1@p.S1742R 1 0.155172414 ENSG00000164694 chr6:159261239-159261239;A/C missense_variant False FNDC3A@p.D249N 1 0.107142857 ENSG00000102531 chr13:49136586-49136586;G/A missense_variant False FNDC1@p.Y1792Cfs*4 1 0.326923077 ENSG00000164694 chr6:159266173-159266192;TATCGAAAGTTCGTGGGAGT/- frameshift_variant False FNDC1@p.S727C 1 0.233333333 ENSG00000164694 chr6:159232692-159232692;C/G missense_variant False FNDC1@p.S703L 1 0.315789474 ENSG00000164694 chr6:159232620-159232620;C/T missense_variant False FNDC1@p.S630C 1 0.108108108 ENSG00000164694 chr6:159232401-159232401;C/G missense_variant False FNDC1@p.S1744L 1 0.192307692 ENSG00000164694 chr6:159261246-159261246;C/T missense_variant False FNDC1@p.R980H 1 0.333333333 ENSG00000164694 chr6:159233451-159233451;G/A missense_variant False FNDC3B@p.E705K 1 0.095238095 ENSG00000075420 chr3:172344121-172344121;G/A missense_variant False FNDC1@p.Q953E 1 0.153846154 ENSG00000164694 chr6:159233369-159233369;C/G missense_variant False FNDC1@p.P1204A 1 0.259259259 ENSG00000164694 chr6:159234122-159234122;C/G missense_variant False FNDC1@p.L425P 1 0.428143713 ENSG00000164694 chr6:159229908-159229908;T/C missense_variant False FNDC1@p.I1348M 1 0.435897436 ENSG00000164694 chr6:159236291-159236291;C/G missense_variant False FNDC11@p.W228_T231delinsC 1 0.256505576 ENSG00000125531 chr20:63556347-63556355;GTTCGTCAC/- inframe_deletion False FNDC11@p.G16S 1 0.083333333 ENSG00000125531 chr20:63555709-63555709;G/A missense_variant False FNDC3A@p.E177K 1 0.239130435 ENSG00000102531 chr13:49136370-49136370;G/A missense_variant False FNDC3A@p.E177Q 1 0.222222222 ENSG00000102531 chr13:49136370-49136370;G/C missense_variant False FNDC3A@p.E257K 1 0.135802469 ENSG00000102531 chr13:49138755-49138755;G/A missense_variant False FNDC3A@p.E546A 1 0.189189189 ENSG00000102531 chr13:49185983-49185983;A/C missense_variant False FNDC3A@p.G513S 1 0.285714286 ENSG00000102531 chr13:49178574-49178574;G/A missense_variant False FNDC3A@p.M1073I 1 0.391304348 ENSG00000102531 chr13:49203221-49203221;G/T missense_variant False FNDC3A@p.N89S 1 0.328358209 ENSG00000102531 chr13:49131150-49131150;A/G missense_variant False FNDC3A@p.Q646H 1 0.081081081 ENSG00000102531 chr13:49188627-49188627;G/C missense_variant False FNDC3A@p.R637Q 1 0.134259259 ENSG00000102531 chr13:49188599-49188599;G/A missense_variant False FNDC3A@p.S890L 1 0.404109589 ENSG00000102531 chr13:49198160-49198160;C/T missense_variant False FNDC3A@p.Y1001C 1 0.96875 ENSG00000102531 chr13:49201814-49201814;A/G missense_variant False FNDC3B@p.A1146V 1 0.469879518 ENSG00000075420 chr3:172397297-172397297;C/T missense_variant False FNDC3B@p.D404N 1 0.288888889 ENSG00000075420 chr3:172310837-172310837;G/A missense_variant False FNDC3B@p.D456N 1 0.218045113 ENSG00000075420 chr3:172329063-172329063;G/A missense_variant False FNDC3B@p.D780N 1 0.423913043 ENSG00000075420 chr3:172346414-172346414;G/A missense_variant False FNDC3B@p.E415Q 1 0.031609195 ENSG00000075420 chr3:172310870-172310870;G/C missense_variant False FNDC3B@p.E702K 1 0.53125 ENSG00000075420 chr3:172344112-172344112;G/A missense_variant False FKBP9@p.S166C 1 0.123076923 ENSG00000122642 chr7:32975311-32975311;C/G missense_variant False FKBP9@p.N270K 1 0.203703704 ENSG00000122642 chr7:32980470-32980470;C/G missense_variant False FBXO39@p.M97I 1 0.605263158 ENSG00000177294 chr17:6780159-6780159;G/T missense_variant False FCRL4@p.G459E 1 0.310344828 ENSG00000163518 chr1:157578527-157578527;C/T missense_variant False FCRL5@p.E739K 1 0.16 ENSG00000143297 chr1:157524303-157524303;C/T missense_variant False FCRL4@p.V235D 1 0.077803204 ENSG00000163518 chr1:157587419-157587419;A/T missense_variant False FCRL4@p.S6F 1 0.263157895 ENSG00000163518 chr1:157597928-157597928;G/A missense_variant False FCRL4@p.R92Q 1 0.302325581 ENSG00000163518 chr1:157589236-157589236;C/T missense_variant False FCRL4@p.L291M 1 0.505494505 ENSG00000163518 chr1:157586432-157586432;G/T missense_variant False FCRL4@p.G506E 1 0.222222222 ENSG00000163518 chr1:157575555-157575555;C/T missense_variant False FCRL4@p.E424K 1 0.714285714 ENSG00000163518 chr1:157580328-157580328;C/T missense_variant False FCRL5@p.N921D 1 0.473214286 ENSG00000143297 chr1:157518480-157518480;T/C missense_variant False FCRL4@p.E213K 1 0.31547619 ENSG00000163518 chr1:157587486-157587486;C/T missense_variant False FCRL3@p.S143T 1 0.115107914 ENSG00000160856 chr1:157697790-157697790;C/G missense_variant False FCRL3@p.R14T 1 0.096153846 ENSG00000160856 chr1:157699703-157699703;C/G missense_variant False FCRL3@p.M207I 1 0.3 ENSG00000160856 chr1:157697363-157697363;C/T missense_variant False FCRL3@p.G447R 1 0.197916667 ENSG00000160856 chr1:157695401-157695401;C/T missense_variant False FCRL3@p.E405K 1 0.371134021 ENSG00000160856 chr1:157695527-157695527;C/T missense_variant False FCRL5@p.H472Y 1 0.247311828 ENSG00000143297 chr1:157534881-157534881;G/A missense_variant False FCRL5@p.P881R 1 0.131868132 ENSG00000143297 chr1:157519761-157519761;G/C missense_variant False FES@p.V241A 1 0.566037736 ENSG00000182511 chr15:90889359-90889359;T/C missense_variant False FCRLA@p.R282T 1 0.462962963 ENSG00000132185 chr1:161712210-161712210;G/C missense_variant False FDPS@p.P275A 1 0.45508982 ENSG00000160752 chr1:155318905-155318905;C/G missense_variant False FDPS@p.K332T 1 0.064393939 ENSG00000160752 chr1:155319864-155319864;A/C missense_variant False FDPS@p.G38W 1 0.3 ENSG00000160752 chr1:155309901-155309901;G/T missense_variant False FDCSP@p.P73L 1 0.185185185 ENSG00000181617 chr4:70234147-70234147;C/T missense_variant False FCSK@p.S332L 1 0.15819209 ENSG00000157353 chr16:70470353-70470353;C/T missense_variant False FCSK@p.E710Q 1 0.272727273 ENSG00000157353 chr16:70474667-70474667;G/C missense_variant False FCRLA@p.F232L 1 0.106870229 ENSG00000132185 chr1:161712061-161712061;C/G missense_variant False FCRL5@p.W251C 1 0.071794872 ENSG00000143297 chr1:157544353-157544353;C/G missense_variant False FCRLA@p.D235N 1 0.1 ENSG00000132185 chr1:161712068-161712068;G/A missense_variant False FCRL6@p.W333C 1 0.103896104 ENSG00000181036 chr1:159810206-159810206;G/T missense_variant False FCRL6@p.G169A 1 0.117117117 ENSG00000181036 chr1:159809147-159809147;G/C missense_variant False FCRL6@p.E31Q 1 0.253012048 ENSG00000181036 chr1:159808216-159808216;G/C missense_variant False FCRL6@p.E31K 1 0.62601626 ENSG00000181036 chr1:159808216-159808216;G/A missense_variant False FCRL6@p.E185K 1 0.271428571 ENSG00000181036 chr1:159809194-159809194;G/A missense_variant False FCRL3@p.E15K 1 0.189189189 ENSG00000160856 chr1:157699701-157699701;C/T missense_variant False FCRL2@p.Y274F 1 0.07239819 ENSG00000132704 chr1:157768476-157768476;T/A missense_variant False FCRL2@p.V265A 1 0.186915888 ENSG00000132704 chr1:157768503-157768503;A/G missense_variant False FCHO2@p.E303K 1 0.188679245 ENSG00000157107 chr5:73037208-73037208;G/A missense_variant False FCHSD2@p.E491Q 1 0.229885057 ENSG00000137478 chr11:72843505-72843505;C/G missense_variant False FCHSD2@p.D583N 1 0.3 ENSG00000137478 chr11:72842800-72842800;C/T missense_variant False FCHSD1@p.R174Q 1 0.467213115 ENSG00000197948 chr5:141649012-141649012;C/T missense_variant False FCHSD1@p.E421Q 1 0.333333333 ENSG00000197948 chr5:141645821-141645821;C/G missense_variant False FCHSD1@p.E210K 1 0.3125 ENSG00000197948 chr5:141648045-141648045;C/T missense_variant False FCHO2@p.P723Lfs*17 1 0.252631579 ENSG00000157107 chr5:73081970-73081972;CCC/T frameshift_variant False FCHO1@p.W71_E72del 1 0.322580645 ENSG00000130475 chr19:17766685-17766690;TGGGAG/- inframe_deletion False FCRL2@p.V13I 1 0.246376812 ENSG00000132704 chr1:157775790-157775790;C/T missense_variant False FCHO1@p.S131R 1 0.297297297 ENSG00000130475 chr19:17770481-17770481;C/A missense_variant False FCHO1@p.R641C 1 0.61 ENSG00000130475 chr19:17781804-17781804;C/T missense_variant False FCHO1@p.R152Q 1 0.506024096 ENSG00000130475 chr19:17770543-17770543;G/A missense_variant False FCHO1@p.Q789H 1 0.308571429 ENSG00000130475 chr19:17784865-17784865;G/C missense_variant False FCHO1@p.Q749E 1 0.247706422 ENSG00000130475 chr19:17784743-17784743;C/G missense_variant False FCHO1@p.P645L 1 0.283018868 ENSG00000130475 chr19:17781817-17781817;C/T missense_variant False FCMR@p.E90Q 1 0.172043011 ENSG00000162894 chr1:206913864-206913864;C/G missense_variant False FCMR@p.L120Pfs*6 1 0.141666667 ENSG00000162894 chr1:206913773-206913774;-/G frameshift_variant False FCMR@p.T224M 1 0.431034483 ENSG00000162894 chr1:206911769-206911769;G/A missense_variant False FCN1@p.E230D 1 0.28627451 ENSG00000085265 chr9:134911176-134911176;C/G missense_variant False FCN1@p.L18W 1 0.426229508 ENSG00000085265 chr9:134917819-134917819;A/C missense_variant False FCN1@p.V265M 1 0.109634551 ENSG00000085265 chr9:134909986-134909986;C/T missense_variant False FCN1@p.W306C 1 0.676470588 ENSG00000085265 chr9:134909861-134909861;C/G missense_variant False FCN2@p.D30N 1 0.15 ENSG00000160339 chr9:134880909-134880909;G/A missense_variant False FCN2@p.T283Lfs*26 1 0.184210526 ENSG00000160339 chr9:134887315-134887315;G/- frameshift_variant False FCN3@p.G57V 1 0.279069767 ENSG00000142748 chr1:27374373-27374373;C/A missense_variant False FCN3@p.G72V 1 0.07079646 ENSG00000142748 chr1:27373982-27373982;C/A missense_variant False FCN3@p.L103F 1 0.310344828 ENSG00000142748 chr1:27373220-27373220;C/G missense_variant False FCN3@p.R91I 1 0.421052632 ENSG00000142748 chr1:27373257-27373257;C/A missense_variant False FCRL1@p.E167Q 1 0.115384615 ENSG00000163534 chr1:157802485-157802485;C/G missense_variant False FCRL1@p.F50L 1 0.079710145 ENSG00000163534 chr1:157804014-157804014;G/T missense_variant False FCRL1@p.P191L 1 0.175824176 ENSG00000163534 chr1:157802412-157802412;G/A missense_variant False FCRL2@p.E30K 1 0.081081081 ENSG00000132704 chr1:157770631-157770631;C/T missense_variant False FDPS@p.Q232E 1 0.157894737 ENSG00000160752 chr1:155318674-155318674;C/G missense_variant False FDPS@p.Q85H 1 0.1 ENSG00000160752 chr1:155310121-155310121;G/T missense_variant False FDXACB1@p.R261M 1 0.145038168 ENSG00000255561 chr11:111876015-111876015;C/A missense_variant False FER@p.S366L 1 0.242857143 ENSG00000151422 chr5:108897709-108897709;C/T missense_variant False FERD3L@p.T12A 1 0.264150943 ENSG00000146618 chr7:19145329-19145329;T/C missense_variant False FERD3L@p.R91L 1 0.341463415 ENSG00000146618 chr7:19145091-19145091;C/A missense_variant False FERD3L@p.E141K 1 0.492537313 ENSG00000146618 chr7:19144942-19144942;C/T missense_variant False FER@p.S498F 1 0.290909091 ENSG00000151422 chr5:108954892-108954892;C/T missense_variant False FER@p.S427L 1 0.261904762 ENSG00000151422 chr5:108946173-108946173;C/T missense_variant False FER@p.S419C 1 0.242236025 ENSG00000151422 chr5:108946149-108946149;C/G missense_variant False FER@p.R707H 1 0.261904762 ENSG00000151422 chr5:109180818-109180818;G/A missense_variant False FER1L6@p.S413Y 1 0.5 ENSG00000214814 chr8:123980639-123980639;C/A missense_variant False FER@p.P398A 1 0.176470588 ENSG00000151422 chr5:108897804-108897804;C/G missense_variant False FER@p.K29N 1 0.390243902 ENSG00000151422 chr5:108798269-108798269;G/T missense_variant False FER@p.E730K 1 0.15942029 ENSG00000151422 chr5:109180886-109180886;G/A missense_variant False FER@p.E134D 1 0.434782609 ENSG00000151422 chr5:108835728-108835728;G/T missense_variant False FER@p.D6E 1 0.363636364 ENSG00000151422 chr5:108798200-108798200;C/A missense_variant False FER1L6@p.T1118P 1 0.233009709 ENSG00000214814 chr8:124064370-124064370;A/C missense_variant False FERD3L@p.V17I 1 0.166666667 ENSG00000146618 chr7:19145314-19145314;C/T missense_variant False FERMT1@p.D55H 1 0.3125 ENSG00000101311 chr20:6116033-6116033;C/G missense_variant False FERMT1@p.F206Lfs*4 1 0.32 ENSG00000101311 chr20:6110426-6110427;-/AACC frameshift_variant False FERMT1@p.R131T 1 0.197916667 ENSG00000101311 chr20:6112617-6112617;C/G missense_variant False FERMT2@p.E215K 1 0.349206349 ENSG00000073712 chr14:52881353-52881353;C/T missense_variant False FERMT2@p.R69I 1 0.493670886 ENSG00000073712 chr14:52919308-52919308;C/A missense_variant False FERMT3@p.D568N 1 0.709677419 ENSG00000149781 chr11:64223067-64223067;G/A missense_variant False FERMT3@p.D582H 1 0.176470588 ENSG00000149781 chr11:64223109-64223109;G/C missense_variant False FERMT3@p.E146K 1 0.352941176 ENSG00000149781 chr11:64211093-64211093;G/A missense_variant False FERMT3@p.E434Q 1 0.31352459 ENSG00000149781 chr11:64220303-64220303;G/C missense_variant False FERMT3@p.E612Q 1 0.153465347 ENSG00000149781 chr11:64223322-64223322;G/C missense_variant False FERMT3@p.H184Y 1 0.545454545 ENSG00000149781 chr11:64211310-64211310;C/T missense_variant False FERMT3@p.K252N 1 0.377358491 ENSG00000149781 chr11:64211717-64211717;G/C missense_variant False FERMT3@p.N106S 1 0.098684211 ENSG00000149781 chr11:64210767-64210767;A/G missense_variant False FERMT3@p.R103W 1 0.48447205 ENSG00000149781 chr11:64210757-64210757;C/T missense_variant False FES@p.E395K 1 0.133333333 ENSG00000182511 chr15:90890225-90890225;G/A missense_variant False FES@p.R113C 1 0.166666667 ENSG00000182511 chr15:90885535-90885535;C/T missense_variant False FER1L6@p.S962F 1 0.196721311 ENSG00000214814 chr8:124060190-124060190;C/T missense_variant False FER1L6@p.S1206A 1 0.066666667 ENSG00000214814 chr8:124066488-124066488;T/G missense_variant False FDXACB1@p.S300F 1 0.322580645 ENSG00000255561 chr11:111875898-111875898;G/A missense_variant False FEM1A@p.Y553C 1 0.352941176 ENSG00000141965 chr19:4793512-4793512;A/G missense_variant False FEM1C@p.R524T 1 0.223529412 ENSG00000145780 chr5:115524591-115524591;C/G missense_variant False FEM1C@p.R177T 1 0.239316239 ENSG00000145780 chr5:115542964-115542964;C/G missense_variant False FEM1C@p.F392I 1 0.344827586 ENSG00000145780 chr5:115524988-115524988;A/T missense_variant False FEM1C@p.E191Q 1 0.176470588 ENSG00000145780 chr5:115525591-115525591;C/G missense_variant False FEM1B@p.L398F 1 0.348314607 ENSG00000169018 chr15:68290552-68290552;G/C missense_variant False FEM1B@p.L107V 1 0.2 ENSG00000169018 chr15:68289677-68289677;C/G missense_variant False FEM1A@p.R394C 1 0.161764706 ENSG00000141965 chr19:4793034-4793034;C/T missense_variant False FER1L6@p.R836Q 1 0.258741259 ENSG00000214814 chr8:124039924-124039924;G/A missense_variant False FEM1A@p.R313P 1 0.175 ENSG00000141965 chr19:4792792-4792792;G/C missense_variant False FECH@p.K133N 1 0.405405405 ENSG00000066926 chr18:57571456-57571456;C/A missense_variant False FECH@p.D340E 1 0.137931034 ENSG00000066926 chr18:57554317-57554317;G/T missense_variant False FDXR@p.S432C 1 0.142857143 ENSG00000161513 chr17:74863126-74863126;G/C missense_variant False FDXR@p.S300F 1 0.421052632 ENSG00000161513 chr17:74864251-74864251;G/A missense_variant False FDXR@p.M411I 1 0.095890411 ENSG00000161513 chr17:74863188-74863188;C/T missense_variant False FEN1@p.F185L 1 0.353846154 ENSG00000168496 chr11:61795916-61795916;C/A missense_variant False FEN1@p.H280Y 1 0.173913043 ENSG00000168496 chr11:61796199-61796199;C/T missense_variant False FEN1@p.L111P 1 0.14953271 ENSG00000168496 chr11:61795693-61795693;T/C missense_variant False FER1L5@p.A1825V 1 0.258064516 ENSG00000249715 chr2:96702710-96702710;C/T missense_variant False FER1L5@p.E1638K 1 0.443181818 ENSG00000249715 chr2:96699981-96699981;G/A missense_variant False FER1L5@p.E1654K 1 0.348837209 ENSG00000249715 chr2:96700029-96700029;G/A missense_variant False FER1L5@p.H1612Y 1 0.32231405 ENSG00000249715 chr2:96699692-96699692;C/T missense_variant False FER1L5@p.Q1962H 1 0.205128205 ENSG00000249715 chr2:96703609-96703609;G/C missense_variant False FER1L6@p.D1434N 1 0.241803279 ENSG00000214814 chr8:124082367-124082367;G/A missense_variant False FER1L6@p.E1478K 1 0.155737705 ENSG00000214814 chr8:124091463-124091463;G/A missense_variant False FER1L6@p.E400K 1 0.357798165 ENSG00000214814 chr8:123980599-123980599;G/A missense_variant False FER1L6@p.F360L 1 0.351851852 ENSG00000214814 chr8:123980481-123980481;T/A missense_variant False FER1L6@p.H858Y 1 0.175438596 ENSG00000214814 chr8:124039989-124039989;C/T missense_variant False FER1L6@p.N1652K 1 0.345238095 ENSG00000214814 chr8:124101169-124101169;C/A missense_variant False FER1L6@p.Q1016E 1 0.382352941 ENSG00000214814 chr8:124060608-124060608;C/G missense_variant False FER1L6@p.Q540R 1 0.134020619 ENSG00000214814 chr8:124003266-124003266;A/G missense_variant False FER1L6@p.R10T 1 0.25 ENSG00000214814 chr8:123956027-123956027;G/C missense_variant False FCHO1@p.E44K 1 0.2 ENSG00000130475 chr19:17764385-17764385;G/A missense_variant False FCHO1@p.E234K 1 0.13125 ENSG00000130475 chr19:17772651-17772651;G/A missense_variant False FCHO1@p.E160D 1 0.210526316 ENSG00000130475 chr19:17770568-17770568;G/C missense_variant False FBXO4@p.E130Q 1 0.094512195 ENSG00000151876 chr5:41927211-41927211;G/C missense_variant False FBXO5@p.Q342E 1 0.16091954 ENSG00000112029 chr6:152972340-152972340;G/C missense_variant False FBXO5@p.K207Rfs*9 1 0.23943662 ENSG00000112029 chr6:152975105-152975105;T/- frameshift_variant False FBXO5@p.C419S 1 0.411764706 ENSG00000112029 chr6:152971251-152971251;C/G missense_variant False FBXO4@p.E306V 1 0.275735294 ENSG00000151876 chr5:41939459-41939459;A/T missense_variant False FBXO4@p.E201K 1 0.243027888 ENSG00000151876 chr5:41929872-41929872;G/A missense_variant False FBXO4@p.E188K 1 0.427184466 ENSG00000151876 chr5:41929833-41929833;G/A missense_variant False FBXO48@p.R88P 1 0.208791209 ENSG00000204923 chr2:68464883-68464883;C/G missense_variant False FBXO45@p.D285Rfs*8 1 0.25 ENSG00000174013 chr3:196584309-196584310;GG/- frameshift_variant False FBXO48@p.R88G 1 0.140703518 ENSG00000204923 chr2:68464884-68464884;G/C missense_variant False FBXO48@p.R155T 1 0.16872428 ENSG00000204923 chr2:68464213-68464213;C/G missense_variant False FBXO47@p.V356I 1 0.111111111 ENSG00000204952 chr17:38942795-38942795;C/T missense_variant False FBXO47@p.D303H 1 0.085714286 ENSG00000204952 chr17:38943623-38943623;C/G missense_variant False FBXO46@p.R114Q 1 0.322580645 ENSG00000177051 chr19:45713155-45713155;C/T missense_variant False FBXO46@p.P422Q 1 0.3125 ENSG00000177051 chr19:45712231-45712231;G/T missense_variant False FBXO5@p.S175C 1 0.083333333 ENSG00000112029 chr6:152975201-152975201;G/C missense_variant False FBXO7@p.S182L 1 0.278846154 ENSG00000100225 chr22:32484024-32484024;C/T missense_variant False FBXO8@p.Q297E 1 0.106382979 ENSG00000164117 chr4:174237483-174237483;G/C missense_variant False FBXO9@p.E182Q 1 0.2 ENSG00000112146 chr6:53081074-53081074;G/C missense_variant False FBXO9@p.E423Q 1 0.375 ENSG00000112146 chr6:53097753-53097753;G/C missense_variant False FBXO9@p.R372C 1 0.441176471 ENSG00000112146 chr6:53095543-53095543;C/T missense_variant False FBXW10@p.G575E 1 0.327868852 ENSG00000171931 chr17:18768553-18768553;G/A missense_variant False FBXW10@p.K991N 1 0.297619048 ENSG00000171931 chr17:18779112-18779112;G/C missense_variant False FBXW10@p.L257V 1 0.146341463 ENSG00000171931 chr17:18749820-18749820;C/G missense_variant False FBXW10@p.Q53H 1 0.167938931 ENSG00000171931 chr17:18744403-18744403;G/C missense_variant False FBXW10@p.S862L 1 0.182692308 ENSG00000171931 chr17:18778724-18778724;C/T missense_variant False FBXW11@p.R236H 1 0.1 ENSG00000072803 chr5:171891549-171891549;C/T missense_variant False FBXW12@p.L275M 1 0.485436893 ENSG00000164049 chr3:48380750-48380750;C/A missense_variant False FBXW2@p.A417T 1 0.278947368 ENSG00000119402 chr9:120764675-120764675;C/T missense_variant False FBXW2@p.E27K 1 0.366666667 ENSG00000119402 chr9:120788180-120788180;C/T missense_variant False FBXW2@p.E2D 1 0.416666667 ENSG00000119402 chr9:120788253-120788253;C/G missense_variant False FBXW2@p.K410N 1 0.263157895 ENSG00000119402 chr9:120764694-120764694;C/G missense_variant False FBXO46@p.A197V 1 0.375 ENSG00000177051 chr19:45712906-45712906;G/A missense_variant False FBXO43@p.S83C 1 0.195652174 ENSG00000156509 chr8:100142006-100142006;G/C missense_variant False FBXW4@p.E489D 1 0.083333333 ENSG00000107829 chr10:101611745-101611745;C/A missense_variant False FBXO41@p.E798D 1 0.15 ENSG00000163013 chr2:73260444-73260444;C/A missense_variant False FBXO42@p.E19Q 1 0.288888889 ENSG00000037637 chr1:16315364-16315364;C/G missense_variant False FBXO42@p.D650N 1 0.321052632 ENSG00000037637 chr1:16250876-16250876;C/T missense_variant False FBXO42@p.D155N 1 0.246376812 ENSG00000037637 chr1:16294822-16294822;C/T missense_variant False FBXO42@p.C641Y 1 0.458885942 ENSG00000037637 chr1:16250902-16250902;C/T missense_variant False FBXO41@p.S451L 1 0.454545455 ENSG00000163013 chr2:73265494-73265494;G/A missense_variant False FBXO41@p.H292L 1 0.285714286 ENSG00000163013 chr2:73268756-73268756;T/A missense_variant False FBXO41@p.A637T 1 0.24 ENSG00000163013 chr2:73263951-73263951;C/T missense_variant False FBXO43@p.S612C 1 0.452173913 ENSG00000156509 chr8:100134204-100134204;G/C missense_variant False FBXO40@p.P452S 1 0.136363636 ENSG00000163833 chr3:121622783-121622783;C/T missense_variant False FBXO40@p.K205_D211del 1 0.176470588 ENSG00000163833 chr3:121622041-121622061;CAAAACCAAAGAAGGGATGGA/- inframe_deletion False FBXO40@p.E613Q 1 0.051282051 ENSG00000163833 chr3:121623266-121623266;G/C missense_variant False FBXO40@p.D277N 1 0.137254902 ENSG00000163833 chr3:121622258-121622258;G/A missense_variant False FBXO3@p.S291L 1 0.229166667 ENSG00000110429 chr11:33750599-33750599;G/A missense_variant False FBXO3@p.R55K 1 0.255192878 ENSG00000110429 chr11:33770771-33770771;C/T missense_variant False FBXO42@p.G524R 1 0.062176166 ENSG00000037637 chr1:16251254-16251254;C/T missense_variant False FBXO42@p.M94I 1 0.144329897 ENSG00000037637 chr1:16305888-16305888;C/T missense_variant False FBXO42@p.Q699H 1 0.452662722 ENSG00000037637 chr1:16250727-16250727;C/G missense_variant False FBXO42@p.R194W 1 0.261904762 ENSG00000037637 chr1:16256682-16256682;G/A missense_variant False FBXO42@p.S4F 1 0.136363636 ENSG00000037637 chr1:16315408-16315408;G/A missense_variant False FBXO42@p.S572L 1 0.6 ENSG00000037637 chr1:16251109-16251109;G/A missense_variant False FBXO42@p.S5L 1 0.128571429 ENSG00000037637 chr1:16315405-16315405;G/A missense_variant False FBXO42@p.Y134H 1 0.511811024 ENSG00000037637 chr1:16294885-16294885;A/G missense_variant False FBXO43@p.D295H 1 0.125 ENSG00000156509 chr8:100141371-100141371;C/G missense_variant False FBXO43@p.E679K 1 0.635514019 ENSG00000156509 chr8:100133894-100133894;C/T missense_variant False FBXO43@p.F466L 1 0.151832461 ENSG00000156509 chr8:100140856-100140856;G/C missense_variant False FBXO43@p.L609P 1 0.257731959 ENSG00000156509 chr8:100134213-100134213;A/G missense_variant False FBXO43@p.Q469K 1 0.063291139 ENSG00000156509 chr8:100140849-100140849;G/T missense_variant False FBXO43@p.Q538E 1 0.347826087 ENSG00000156509 chr8:100137627-100137627;G/C missense_variant False FBXO43@p.R38W 1 0.102040816 ENSG00000156509 chr8:100142142-100142142;T/A missense_variant False FBXO43@p.S261C 1 0.328571429 ENSG00000156509 chr8:100141472-100141472;G/C missense_variant False FBXO43@p.S53F 1 0.708333333 ENSG00000156509 chr8:100142096-100142096;G/A missense_variant False FBXW2@p.L105V 1 0.47008547 ENSG00000119402 chr9:120787946-120787946;A/C missense_variant False FBXW4@p.P447L 1 0.190751445 ENSG00000107829 chr10:101612439-101612439;G/A missense_variant False FCHO1@p.E11K 1 0.078947368 ENSG00000130475 chr19:17762765-17762765;G/A missense_variant False FCGBP@p.P2400S 1 0.161290323 ENSG00000275395 chr19:39889874-39889874;G/A missense_variant False FCGR1A@p.P286S 1 0.167701863 ENSG00000150337 chr1:149791248-149791248;C/T missense_variant False FCGBP@p.Y3514H 1 0.692307692 ENSG00000275395 chr19:39875451-39875451;A/G missense_variant False FCGBP@p.V2179L 1 0.051948052 ENSG00000275395 chr19:39892108-39892108;C/A missense_variant False FCGBP@p.S177L 1 0.462184874 ENSG00000275395 chr19:39927832-39927832;G/A missense_variant False FCGBP@p.S1080N 1 0.434782609 ENSG00000275395 chr19:39913848-39913848;C/T missense_variant False FCGBP@p.P4072L 1 0.111111111 ENSG00000275395 chr19:39866855-39866855;G/A missense_variant False FCGBP@p.L3762F 1 0.425 ENSG00000275395 chr19:39872543-39872543;G/A missense_variant False FCGBP@p.E1856K 1 0.111111111 ENSG00000275395 chr19:39894195-39894195;C/T missense_variant False FCGBP@p.G2971A 1 0.099056604 ENSG00000275395 chr19:39878193-39878193;C/G missense_variant False FCGBP@p.G2262S 1 0.120218579 ENSG00000275395 chr19:39891859-39891859;C/T missense_variant False FCGBP@p.E3570K 1 0.448275862 ENSG00000275395 chr19:39873691-39873691;C/T missense_variant False FCGBP@p.E2951K 1 0.118032787 ENSG00000275395 chr19:39879572-39879572;C/T missense_variant False FCGBP@p.E2651K 1 0.14379085 ENSG00000275395 chr19:39886228-39886228;C/T missense_variant False FCGBP@p.E2434K 1 0.040816327 ENSG00000275395 chr19:39889772-39889772;C/T missense_variant False FCGR1A@p.R71I 1 0.341176471 ENSG00000150337 chr1:149784162-149784162;G/T missense_variant False FCGR2A@p.A177S 1 0.111111111 ENSG00000143226 chr1:161509984-161509984;G/T missense_variant False FCGR2A@p.H144Q 1 0.34351145 ENSG00000143226 chr1:161509887-161509887;C/A missense_variant False FCGR2A@p.I303M 1 0.243243243 ENSG00000143226 chr1:161518103-161518103;C/G missense_variant False FCGR2A@p.M210T 1 0.251497006 ENSG00000143226 chr1:161510843-161510843;T/C missense_variant False FCGR2A@p.R272T 1 0.074074074 ENSG00000143226 chr1:161518009-161518009;G/C missense_variant False FCGR2B@p.Q114H 1 0.4 ENSG00000072694 chr1:161671600-161671600;G/C missense_variant False FCGR2B@p.S66C 1 0.147540984 ENSG00000072694 chr1:161671455-161671455;C/G missense_variant False FCGR2C@p.K171N 1 0.490566038 ENSG00000244682 chr1:161591268-161591268;G/T missense_variant False FCGR2C@p.L296V 1 0.272727273 ENSG00000244682 chr1:161599720-161599720;C/G missense_variant False FCGR2C@p.P91S 1 0.113207547 ENSG00000244682 chr1:161589702-161589702;C/T missense_variant False FCGR3A@p.I190M 1 0.480769231 ENSG00000203747 chr1:161544708-161544708;G/C missense_variant False FCGR3B@p.I67M 1 0.147286822 ENSG00000162747 chr1:161629896-161629896;G/C missense_variant False FCGR3B@p.L10V 1 0.088888889 ENSG00000162747 chr1:161631067-161631067;G/C missense_variant False FCGR3B@p.L45V 1 0.087671233 ENSG00000162747 chr1:161629964-161629964;G/C missense_variant False FCGRT@p.D354N 1 0.095607235 ENSG00000104870 chr19:49526081-49526081;G/A missense_variant False FCGRT@p.F226L 1 0.12 ENSG00000104870 chr19:49524583-49524583;C/G missense_variant False FCGBP@p.E240K 1 0.333333333 ENSG00000275395 chr19:39927644-39927644;C/T missense_variant False FCGBP@p.D2165N 1 0.108108108 ENSG00000275395 chr19:39892150-39892150;C/T missense_variant False FBXW4@p.S333N 1 0.271317829 ENSG00000107829 chr10:101673497-101673497;C/T missense_variant False FBXW7@p.K299Sfs*12 1 0.24 ENSG00000109670 chr4:152332669-152332685;TGCTTGTAGCAGGTCTT/- frameshift_variant True FBXW7@p.T385K 1 0.168 ENSG00000109670 chr4:152329754-152329754;G/T missense_variant True FBXW7@p.S426L 1 0.220858896 ENSG00000109670 chr4:152328349-152328349;G/A missense_variant True FBXW7@p.S398F 1 0.202898551 ENSG00000109670 chr4:152329715-152329715;G/A missense_variant True FBXW7@p.R479P 1 0.074626866 ENSG00000109670 chr4:152326214-152326214;C/G missense_variant True FBXW7@p.R479G 1 0.41509434 ENSG00000109670 chr4:152326215-152326215;G/C missense_variant True FBXW7@p.Q581Pfs*24 1 0.169230769 ENSG00000109670 chr4:152324297-152324298;-/G frameshift_variant True FBXW7@p.H470Y 1 0.295774648 ENSG00000109670 chr4:152328218-152328218;G/A missense_variant True FCGBP@p.C3151Y 1 0.247524752 ENSG00000275395 chr19:39877265-39877265;C/T missense_variant False FBXW7@p.G517R 1 0.430555556 ENSG00000109670 chr4:152326101-152326101;C/T missense_variant True FBXW7@p.E471Kfs*27 1 0.193277311 ENSG00000109670 chr4:152328215-152328215;C/- frameshift_variant True FBXW7@p.D642G 1 0.226666667 ENSG00000109670 chr4:152323080-152323080;T/C missense_variant True FBXW7@p.D520N 1 0.376470588 ENSG00000109670 chr4:152326092-152326092;C/T missense_variant True FBXW7@p.D399H 1 0.432432432 ENSG00000109670 chr4:152329713-152329713;C/G missense_variant True FBXW5@p.E320Q 1 0.4 ENSG00000159069 chr9:136942184-136942184;C/G missense_variant False FBXW8@p.D147N 1 0.249056604 ENSG00000174989 chr12:116964770-116964770;G/A missense_variant False FBXW8@p.E151K 1 0.098039216 ENSG00000174989 chr12:116964782-116964782;G/A missense_variant False FBXW8@p.L322F 1 0.295454545 ENSG00000174989 chr12:117010361-117010361;G/C missense_variant False FBXW9@p.I204M 1 0.109375 ENSG00000132004 chr19:12694630-12694630;G/C missense_variant False FBXW9@p.R111G 1 0.375 ENSG00000132004 chr19:12696251-12696251;G/C missense_variant False FCAR@p.G276A 1 0.382352941 ENSG00000186431 chr19:54889826-54889826;G/C missense_variant False FCAR@p.H220N 1 0.08428246 ENSG00000186431 chr19:54889657-54889657;C/A missense_variant False FCER1A@p.E157K 1 0.2 ENSG00000179639 chr1:159306125-159306125;G/A missense_variant False FCER1A@p.E169Q 1 0.127906977 ENSG00000179639 chr1:159306161-159306161;G/C missense_variant False FCER1A@p.L10P 1 0.074906367 ENSG00000179639 chr1:159302393-159302393;T/C missense_variant False FCER1A@p.L234F 1 0.471264368 ENSG00000179639 chr1:159307860-159307860;G/C missense_variant False FCER1G@p.R45Q 1 0.052419355 ENSG00000158869 chr1:161218070-161218070;G/A missense_variant False FCF1@p.R197G 1 0.152046784 ENSG00000119616 chr14:74734922-74734922;C/G missense_variant False FCGBP@p.A128V 1 0.120879121 ENSG00000275395 chr19:39927979-39927979;G/A missense_variant False FCGBP@p.A2230T 1 0.313253012 ENSG00000275395 chr19:39891955-39891955;C/T missense_variant False FCGBP@p.A2743V 1 0.176470588 ENSG00000275395 chr19:39885833-39885833;G/A missense_variant False FCGBP@p.A3192V 1 0.046511628 ENSG00000275395 chr19:39877142-39877142;G/A missense_variant False FES@p.R687W 1 0.28125 ENSG00000182511 chr15:90893667-90893667;C/T missense_variant False FETUB@p.A375V 1 0.350877193 ENSG00000090512 chr3:186652606-186652606;C/T missense_variant False FKBP8@p.E92K 1 0.416666667 ENSG00000105701 chr19:18541697-18541697;C/T missense_variant False FHOD1@p.E1019Q 1 0.058823529 ENSG00000135723 chr16:67230225-67230225;C/G missense_variant False FHOD3@p.E465K 1 0.1375 ENSG00000134775 chr18:36681518-36681518;G/A missense_variant False FHOD1@p.T1141M 1 0.142857143 ENSG00000135723 chr16:67229709-67229709;G/A missense_variant False FHOD1@p.S875C 1 0.129032258 ENSG00000135723 chr16:67231231-67231231;G/C missense_variant False FHOD1@p.S1104L 1 0.053030303 ENSG00000135723 chr16:67229894-67229894;G/A missense_variant False FHOD1@p.S1087F 1 0.311111111 ENSG00000135723 chr16:67229945-67229945;G/A missense_variant False FHOD1@p.G47E 1 0.666666667 ENSG00000135723 chr16:67247271-67247271;C/T missense_variant False FHOD1@p.D320N 1 0.264150943 ENSG00000135723 chr16:67237274-67237274;C/T missense_variant False FHOD3@p.I168M 1 0.2 ENSG00000134775 chr18:36512536-36512536;C/G missense_variant False FHOD1@p.D1149N 1 0.24137931 ENSG00000135723 chr16:67229686-67229686;C/T missense_variant False FHOD1@p.C71S 1 0.125 ENSG00000135723 chr16:67239444-67239444;C/G missense_variant False FHL5@p.Y150C 1 0.333333333 ENSG00000112214 chr6:96606016-96606016;A/G missense_variant False FHL5@p.L142F 1 0.333333333 ENSG00000112214 chr6:96605993-96605993;G/C missense_variant False FHL2@p.L75M 1 0.342105263 ENSG00000115641 chr2:105373667-105373667;G/T missense_variant False FHL1@p.K164M 1 0.44 ENSG00000022267 chrX:136207951-136207951;A/T missense_variant False FHOD3@p.F31L 1 0.307692308 ENSG00000134775 chr18:36297928-36297928;C/A missense_variant False FHOD3@p.L1126V 1 0.103092784 ENSG00000134775 chr18:36744104-36744104;C/G missense_variant False FETUB@p.L139V 1 0.442857143 ENSG00000090512 chr3:186642549-186642549;C/G missense_variant False FIG4@p.D719N 1 0.162790698 ENSG00000112367 chr6:109789652-109789652;G/A missense_variant False FIGN@p.A61T 1 0.363636364 ENSG00000182263 chr2:163611651-163611651;C/T missense_variant False FIGLA@p.L117I 1 0.5 ENSG00000183733 chr2:70787684-70787684;G/T missense_variant False FIGLA@p.K167N 1 0.380733945 ENSG00000183733 chr2:70785523-70785523;C/G missense_variant False FIG4@p.V706I 1 0.256880734 ENSG00000112367 chr6:109789613-109789613;G/A missense_variant False FIG4@p.R275I 1 0.421052632 ENSG00000112367 chr6:109741492-109741492;G/T missense_variant False FIG4@p.E649K 1 0.089285714 ENSG00000112367 chr6:109785025-109785025;G/A missense_variant False FIG4@p.D158Y 1 0.11627907 ENSG00000112367 chr6:109732662-109732662;G/T missense_variant False FHOD3@p.Q779L 1 0.289156627 ENSG00000134775 chr18:36718210-36718210;A/T missense_variant False FICD@p.E145K 1 0.884615385 ENSG00000198855 chr12:108518531-108518531;G/A missense_variant False FIBIN@p.S10R 1 0.611940299 ENSG00000176971 chr11:26994554-26994554;A/C missense_variant False FIBCD1@p.Y411S 1 0.166666667 ENSG00000130720 chr9:130904218-130904218;T/G missense_variant False FIBCD1@p.P232T 1 0.411764706 ENSG00000130720 chr9:130924255-130924255;G/T missense_variant False FIBCD1@p.H313Y 1 0.6 ENSG00000130720 chr9:130911801-130911801;G/A missense_variant False FHOD3@p.S446L 1 0.357142857 ENSG00000134775 chr18:36681462-36681462;C/T missense_variant False FHL1@p.C89R 1 0.426666667 ENSG00000022267 chrX:136207124-136207124;T/C missense_variant False FHIT@p.R42W 1 0.45 ENSG00000189283 chr3:60014132-60014132;G/A missense_variant False FHIT@p.E138K 1 0.189873418 ENSG00000189283 chr3:59752258-59752258;C/T missense_variant False FGG@p.T247A 1 0.30952381 ENSG00000171557 chr4:154608578-154608578;T/C missense_variant False FGL2@p.E76Q 1 0.2421875 ENSG00000127951 chr7:77199568-77199568;C/G missense_variant False FGL2@p.D108N 1 0.36 ENSG00000127951 chr7:77199472-77199472;C/T missense_variant False FGL1@p.G282R 1 0.52173913 ENSG00000104760 chr8:17864687-17864687;C/T missense_variant False FGGY@p.R10W 1 0.257142857 ENSG00000172456 chr1:59321577-59321577;A/T missense_variant False FGGY@p.L187F 1 0.451612903 ENSG00000172456 chr1:59456965-59456965;C/T missense_variant False FGGY@p.F168L 1 0.186666667 ENSG00000172456 chr1:59378787-59378787;C/A missense_variant False FGG@p.S99L 1 0.178571429 ENSG00000171557 chr4:154612029-154612029;G/A missense_variant False FHIT@p.D49N 1 0.272727273 ENSG00000189283 chr3:60014111-60014111;C/T missense_variant False FGG@p.S190N 1 0.20610687 ENSG00000171557 chr4:154609727-154609727;C/T missense_variant False FGG@p.L261F 1 0.75 ENSG00000171557 chr4:154608534-154608534;C/G missense_variant False FGG@p.D320N 1 0.136363636 ENSG00000171557 chr4:154606876-154606876;C/T missense_variant False FGG@p.D320H 1 0.085365854 ENSG00000171557 chr4:154606876-154606876;C/G missense_variant False FGG@p.D167N 1 0.397849462 ENSG00000171557 chr4:154610100-154610100;C/T missense_variant False FGFRL1@p.S452F 1 0.4375 ENSG00000127418 chr4:1025187-1025187;C/T missense_variant False FGL2@p.N168T 1 0.231404959 ENSG00000127951 chr7:77199291-77199291;T/G missense_variant False FGR@p.E116K 1 0.25 ENSG00000000938 chr1:27621641-27621641;C/T missense_variant False FGR@p.F505L 1 0.195652174 ENSG00000000938 chr1:27612989-27612989;G/C missense_variant False FGR@p.H105R 1 1.0 ENSG00000000938 chr1:27623057-27623057;T/C missense_variant False FGR@p.R191T 1 0.346405229 ENSG00000000938 chr1:27616967-27616967;C/G missense_variant False FGR@p.R26I 1 0.341463415 ENSG00000000938 chr1:27623840-27623840;C/A missense_variant False FH@p.E313D 1 0.548387097 ENSG00000091483 chr1:241504211-241504211;T/A missense_variant False FH@p.H418L 1 0.079365079 ENSG00000091483 chr1:241500574-241500574;T/A missense_variant False FH@p.I98M 1 0.26 ENSG00000091483 chr1:241513687-241513687;G/C missense_variant False FH@p.L453V 1 0.648 ENSG00000091483 chr1:241500470-241500470;G/C missense_variant False FH@p.S419L 1 0.662337662 ENSG00000091483 chr1:241500571-241500571;G/A missense_variant False FHDC1@p.E53K 1 0.296296296 ENSG00000137460 chr4:152943214-152943214;G/A missense_variant False FHDC1@p.E563Q 1 0.529411765 ENSG00000137460 chr4:152974978-152974978;G/C missense_variant False FHDC1@p.E609Q 1 0.484251969 ENSG00000137460 chr4:152975116-152975116;G/C missense_variant False FHDC1@p.E998K 1 0.424242424 ENSG00000137460 chr4:152976283-152976283;G/A missense_variant False FHDC1@p.F981L 1 0.272727273 ENSG00000137460 chr4:152976234-152976234;C/G missense_variant False FHDC1@p.G312S 1 0.120689655 ENSG00000137460 chr4:152963035-152963035;G/A missense_variant False FIGN@p.E730K 1 0.088235294 ENSG00000182263 chr2:163609644-163609644;C/T missense_variant False FIGN@p.G561A 1 0.090909091 ENSG00000182263 chr2:163610150-163610150;C/G missense_variant False FIGN@p.L176F 1 0.304347826 ENSG00000182263 chr2:163611306-163611306;G/A missense_variant False FKBP15@p.E242K 1 0.231884058 ENSG00000119321 chr9:113197072-113197072;C/T missense_variant False FKBP15@p.Q59E 1 0.2 ENSG00000119321 chr9:113207291-113207291;G/C missense_variant False FKBP15@p.Q1119E 1 0.452380952 ENSG00000119321 chr9:113169354-113169354;G/C missense_variant False FKBP15@p.L396V 1 0.151515152 ENSG00000119321 chr9:113188479-113188479;G/C missense_variant False FKBP15@p.L1038V 1 0.386363636 ENSG00000119321 chr9:113169597-113169597;G/C missense_variant False FKBP15@p.H1157Y 1 0.433333333 ENSG00000119321 chr9:113169240-113169240;G/A missense_variant False FKBP15@p.E760D 1 0.810126582 ENSG00000119321 chr9:113174527-113174527;C/G missense_variant False FKBP15@p.E1015Q 1 0.166666667 ENSG00000119321 chr9:113169666-113169666;C/G missense_variant False FITM1@p.E146K 1 0.539215686 ENSG00000139914 chr14:24132380-24132380;G/A missense_variant False FKBP14@p.R40C 1 0.070422535 ENSG00000106080 chr7:30026391-30026391;G/A missense_variant False FKBP11@p.K200N 1 0.347826087 ENSG00000134285 chr12:48921990-48921990;C/A missense_variant False FKBP10@p.R115Q 1 0.180851064 ENSG00000141756 chr17:41817156-41817156;G/A missense_variant False FKBP10@p.A37V 1 0.25 ENSG00000141756 chr17:41813144-41813144;C/T missense_variant False FITM2@p.P74R 1 0.72972973 ENSG00000197296 chr20:44307193-44307193;G/C missense_variant False FITM1@p.S287F 1 0.105263158 ENSG00000139914 chr14:24132804-24132804;C/T missense_variant False FKBP1A@p.K35N 1 0.382978723 ENSG00000088832 chr20:1375584-1375584;C/A missense_variant False FKBP2@p.E132Q 1 0.291457286 ENSG00000173486 chr11:64243994-64243994;G/C missense_variant False FKBP2@p.E65K 1 0.144578313 ENSG00000173486 chr11:64243220-64243220;G/A missense_variant False FKBP3@p.D141Y 1 0.130952381 ENSG00000100442 chr14:45121518-45121518;C/A missense_variant False FKBP4@p.E268K 1 0.41509434 ENSG00000204315 chr12:2800078-2800078;G/A missense_variant False FKBP4@p.G149R 1 0.189473684 ENSG00000204315 chr12:2798757-2798757;G/A missense_variant False FKBP4@p.G214R 1 0.458333333 ENSG00000204315 chr12:2799213-2799213;G/C missense_variant False FKBP4@p.Q312H 1 0.685714286 ENSG00000204315 chr12:2800481-2800481;G/C missense_variant False FKBP5@p.D185H 1 0.080357143 ENSG00000096060 chr6:35597360-35597360;C/G missense_variant False FKBP5@p.E273K 1 0.37012987 ENSG00000096060 chr6:35587057-35587057;C/T missense_variant False FKBP5@p.I87M 1 0.494382022 ENSG00000096060 chr6:35620264-35620264;G/C missense_variant False FKBP5@p.K232T 1 0.512195122 ENSG00000096060 chr6:35591191-35591191;T/G missense_variant False FKBP6@p.E147K 1 0.264705882 ENSG00000077800 chr7:73330323-73330323;G/A missense_variant False FKBP6@p.E326K 1 0.363636364 ENSG00000077800 chr7:73342889-73342889;G/A missense_variant False FKBP6@p.F275L 1 0.210045662 ENSG00000077800 chr7:73341314-73341314;T/A missense_variant False FKBP7@p.D54N 1 0.10989011 ENSG00000079150 chr2:178478340-178478340;C/T missense_variant False FKBP8@p.E132Q 1 0.459627329 ENSG00000105701 chr19:18539619-18539619;C/G missense_variant False FITM1@p.R179Q 1 0.127819549 ENSG00000139914 chr14:24132480-24132480;G/A missense_variant False FITM1@p.A259V 1 0.196428571 ENSG00000139914 chr14:24132720-24132720;C/T missense_variant False FIGN@p.Q20H 1 0.775862069 ENSG00000182263 chr2:163611772-163611772;C/G missense_variant False FILIP1@p.A693E 1 0.363207547 ENSG00000118407 chr6:75313754-75313754;G/T missense_variant False FILIP1@p.E933K 1 0.126213592 ENSG00000118407 chr6:75313035-75313035;C/T missense_variant False FILIP1@p.E583K 1 0.324324324 ENSG00000118407 chr6:75314085-75314085;C/T missense_variant False FILIP1@p.E424Q 1 0.302013423 ENSG00000118407 chr6:75314562-75314562;C/G missense_variant False FILIP1@p.E207Q 1 0.216589862 ENSG00000118407 chr6:75353549-75353549;C/G missense_variant False FILIP1@p.E109Q 1 0.087248322 ENSG00000118407 chr6:75362869-75362869;C/G missense_variant False FILIP1@p.D48N 1 0.240601504 ENSG00000118407 chr6:75414831-75414831;C/T missense_variant False FIGNL1@p.S469F 1 0.151515152 ENSG00000132436 chr7:50445882-50445882;G/A missense_variant False FIS1@p.E37K 1 0.185714286 ENSG00000214253 chr7:101244076-101244076;C/T missense_variant False FIGNL1@p.Q93E 1 0.161764706 ENSG00000132436 chr7:50447011-50447011;G/C missense_variant False FIGNL1@p.Q635E 1 0.274193548 ENSG00000132436 chr7:50445385-50445385;G/C missense_variant False FIGNL1@p.E523K 1 0.204225352 ENSG00000132436 chr7:50445721-50445721;C/T missense_variant False FIGNL1@p.E515D 1 0.48245614 ENSG00000132436 chr7:50445743-50445743;T/G missense_variant False FIGN@p.S714Yfs*14 1 0.84375 ENSG00000182263 chr2:163609684-163609691;AATGGCTG/- frameshift_variant False FIGN@p.R361W 1 0.423423423 ENSG00000182263 chr2:163610751-163610751;G/A missense_variant False FILIP1@p.I1195M 1 0.397849462 ENSG00000118407 chr6:75308748-75308748;T/C missense_variant False FILIP1@p.P1133L 1 0.196721311 ENSG00000118407 chr6:75312434-75312434;G/A missense_variant False FILIP1@p.P888S 1 0.284090909 ENSG00000118407 chr6:75313170-75313170;G/A missense_variant False FILIP1@p.P916T 1 0.324074074 ENSG00000118407 chr6:75313086-75313086;G/T missense_variant False FILIP1@p.R1187G 1 0.388235294 ENSG00000118407 chr6:75308774-75308774;G/C missense_variant False FILIP1@p.R431T 1 0.128888889 ENSG00000118407 chr6:75314540-75314540;C/G missense_variant False FILIP1@p.R599K 1 0.449275362 ENSG00000118407 chr6:75314036-75314036;C/T missense_variant False FILIP1@p.V123Cfs*17 1 0.394736842 ENSG00000118407 chr6:75362828-75362828;T/- frameshift_variant False FILIP1L@p.E537K 1 0.386666667 ENSG00000168386 chr3:99850067-99850067;C/T missense_variant False FILIP1L@p.E666K 1 0.111111111 ENSG00000168386 chr3:99849680-99849680;C/T missense_variant False FILIP1L@p.L79V 1 0.526315789 ENSG00000168386 chr3:99930786-99930786;G/C missense_variant False FILIP1L@p.Q526E 1 0.161290323 ENSG00000168386 chr3:99850100-99850100;G/C missense_variant False FILIP1L@p.R1122G 1 0.256637168 ENSG00000168386 chr3:99848312-99848312;G/C missense_variant False FILIP1L@p.V560L 1 0.117647059 ENSG00000168386 chr3:99849998-99849998;C/G missense_variant False FIP1L1@p.D183H 1 0.065789474 ENSG00000145216 chr4:53391050-53391050;G/C missense_variant False FIP1L1@p.D417N 1 0.130434783 ENSG00000145216 chr4:53444067-53444067;G/A missense_variant False FIP1L1@p.L387V 1 0.194805195 ENSG00000145216 chr4:53428168-53428168;C/G missense_variant False FGFRL1@p.G451R 1 0.333333333 ENSG00000127418 chr4:1025183-1025183;G/C missense_variant False FGFR4@p.V168D 1 0.535714286 ENSG00000160867 chr5:177091004-177091004;T/A missense_variant False FGFR4@p.S217L 1 0.094339623 ENSG00000160867 chr5:177091731-177091731;C/T missense_variant False FGD1@p.P252L 1 0.647058824 ENSG00000102302 chrX:54470362-54470362;G/A missense_variant False FGD2@p.E208Q 1 0.333333333 ENSG00000146192 chr6:37013703-37013703;G/C missense_variant False FGD2@p.D215N 1 0.516666667 ENSG00000146192 chr6:37013724-37013724;G/A missense_variant False FGD1@p.S547C 1 0.7 ENSG00000102302 chrX:54456564-54456564;G/C missense_variant False FGD1@p.R921Q 1 0.625 ENSG00000102302 chrX:54446233-54446233;C/T missense_variant False FGD1@p.R134S 1 0.290322581 ENSG00000102302 chrX:54471395-54471395;G/T missense_variant False FGD1@p.P356S 1 0.181818182 ENSG00000102302 chrX:54470051-54470051;G/A missense_variant False FGD1@p.E820K 1 0.869565217 ENSG00000102302 chrX:54447433-54447433;C/T missense_variant False FGA@p.S313C 1 0.471631206 ENSG00000171560 chr4:154586491-154586491;G/C missense_variant False FGB@p.R87I 1 0.372093023 ENSG00000171564 chr4:154565953-154565953;G/T missense_variant False FGB@p.R72W 1 0.282608696 ENSG00000171564 chr4:154565907-154565907;C/T missense_variant False FGB@p.Q82E 1 0.203703704 ENSG00000171564 chr4:154565937-154565937;C/G missense_variant False FGB@p.P122Q 1 0.290909091 ENSG00000171564 chr4:154566547-154566547;C/A missense_variant False FGB@p.M482R 1 0.588235294 ENSG00000171564 chr4:154570619-154570619;T/G missense_variant False FGA@p.W248C 1 0.092783505 ENSG00000171560 chr4:154586685-154586685;C/G missense_variant False FGD2@p.L474V 1 0.24137931 ENSG00000146192 chr6:37022332-37022332;C/G missense_variant False FGD2@p.N153I 1 0.125 ENSG00000146192 chr6:37011785-37011785;A/T missense_variant False FGD2@p.V68A 1 0.138888889 ENSG00000146192 chr6:37008968-37008968;T/C missense_variant False FGD3@p.E489K 1 0.807692308 ENSG00000127084 chr9:93020395-93020395;G/A missense_variant False FGD3@p.S547C 1 0.074074074 ENSG00000127084 chr9:93029956-93029956;C/G missense_variant False FGD4@p.E191K 1 0.151515152 ENSG00000139132 chr12:32582438-32582438;G/A missense_variant False FGD4@p.G54E 1 0.114285714 ENSG00000139132 chr12:32582028-32582028;G/A missense_variant False FGD4@p.S10C 1 0.20952381 ENSG00000139132 chr12:32576386-32576386;C/G missense_variant False FGD5@p.D1445Y 1 0.368421053 ENSG00000154783 chr3:14932712-14932712;G/T missense_variant False FGD5@p.E567Q 1 0.115942029 ENSG00000154783 chr3:14820770-14820770;G/C missense_variant False FGD5@p.G1111V 1 0.171428571 ENSG00000154783 chr3:14907707-14907707;G/T missense_variant False FGD5@p.G403A 1 0.095238095 ENSG00000154783 chr3:14820279-14820279;G/C missense_variant False FGD5@p.G403E 1 0.279069767 ENSG00000154783 chr3:14820279-14820279;G/A missense_variant False FGD5@p.G889E 1 0.390243902 ENSG00000154783 chr3:14880579-14880579;G/A missense_variant False FGD5@p.M1289I 1 0.380952381 ENSG00000154783 chr3:14923105-14923105;G/A missense_variant False FGD5@p.P378Q 1 0.494623656 ENSG00000154783 chr3:14820204-14820204;C/A missense_variant False FGD5@p.Q834H 1 0.402777778 ENSG00000154783 chr3:14821573-14821573;G/C missense_variant False FGA@p.S757P 1 0.404545455 ENSG00000171560 chr4:154584456-154584456;A/G missense_variant False FGA@p.R216K 1 0.207792208 ENSG00000171560 chr4:154586782-154586782;C/T missense_variant False FGD6@p.E671Q 1 0.106481481 ENSG00000180263 chr12:95209273-95209273;C/G missense_variant False FEZF1@p.D396N 1 0.302521008 ENSG00000128610 chr7:122302239-122302239;C/T missense_variant False FEZF2@p.D413H 1 0.216931217 ENSG00000153266 chr3:62370226-62370226;C/G missense_variant False FEZF1@p.Y273H 1 0.102040816 ENSG00000128610 chr7:122303296-122303296;A/G missense_variant False FEZF1@p.S222C 1 0.237288136 ENSG00000128610 chr7:122303773-122303773;G/C missense_variant False FEZF1@p.E210Q 1 0.16091954 ENSG00000128610 chr7:122303810-122303810;C/G missense_variant False FEZF1@p.D424N 1 0.4 ENSG00000128610 chr7:122302155-122302155;C/T missense_variant False FEZF1@p.D414N 1 0.215311005 ENSG00000128610 chr7:122302185-122302185;C/T missense_variant False FEZF1@p.A324S 1 0.46031746 ENSG00000128610 chr7:122302898-122302898;C/A missense_variant False FGA@p.K463I 1 0.385185185 ENSG00000171560 chr4:154586041-154586041;T/A missense_variant False FEZ2@p.R215Sfs*5 1 0.144444444 ENSG00000171055 chr2:36578854-36578855;GC/- frameshift_variant False FEZ2@p.E210K 1 0.360424028 ENSG00000171055 chr2:36581296-36581296;C/T missense_variant False FEZ1@p.M370I 1 0.064935065 ENSG00000149557 chr11:125448554-125448554;C/T missense_variant False FEZ1@p.E45K 1 0.26 ENSG00000149557 chr11:125489645-125489645;C/T missense_variant False FETUB@p.P320T 1 0.42519685 ENSG00000090512 chr3:186652440-186652440;C/A missense_variant False FETUB@p.P21S 1 0.497695853 ENSG00000090512 chr3:186640521-186640521;C/T missense_variant False FEZF2@p.G19E 1 0.3125 ENSG00000153266 chr3:62372813-62372813;C/T missense_variant False FEZF2@p.R428G 1 0.366666667 ENSG00000153266 chr3:62370181-62370181;T/C missense_variant False FFAR3@p.G336E 1 0.294117647 ENSG00000185897 chr19:35359897-35359897;G/A missense_variant False FFAR3@p.L264F 1 0.142076503 ENSG00000185897 chr19:35359680-35359680;C/T missense_variant False FFAR3@p.L57P 1 0.104938272 ENSG00000185897 chr19:35359060-35359060;T/C missense_variant False FFAR3@p.P255A 1 0.051413882 ENSG00000185897 chr19:35359653-35359653;C/G missense_variant False FFAR3@p.S280T 1 0.12244898 ENSG00000185897 chr19:35359728-35359728;T/A missense_variant False FFAR4@p.K347N 1 0.549132948 ENSG00000186188 chr10:93587516-93587516;G/T missense_variant False FGA@p.A189S 1 0.081395349 ENSG00000171560 chr4:154586864-154586864;C/A missense_variant False FGA@p.E268K 1 0.041666667 ENSG00000171560 chr4:154586627-154586627;C/T missense_variant False FGA@p.E431K 1 0.25625 ENSG00000171560 chr4:154586138-154586138;C/T missense_variant False FGA@p.F27Y 1 0.752688172 ENSG00000171560 chr4:154589537-154589537;A/T missense_variant False FGA@p.G72W 1 0.379310345 ENSG00000171560 chr4:154588943-154588943;C/A missense_variant False FGA@p.G745C 1 0.253968254 ENSG00000171560 chr4:154584492-154584492;C/A missense_variant False FGA@p.G745V 1 0.229508197 ENSG00000171560 chr4:154584491-154584491;C/A missense_variant False FGA@p.I675M 1 0.329896907 ENSG00000171560 chr4:154584700-154584700;G/C missense_variant False FGA@p.K144N 1 0.086206897 ENSG00000171560 chr4:154587590-154587590;T/G missense_variant False FGD6@p.E339K 1 0.077738516 ENSG00000180263 chr12:95210269-95210269;C/T missense_variant False FGD6@p.E914Q 1 0.171875 ENSG00000180263 chr12:95141485-95141485;C/G missense_variant False FGFR4@p.R650C 1 0.246153846 ENSG00000160867 chr5:177096290-177096290;C/T missense_variant False FGF8@p.Q160H 1 0.2 ENSG00000107831 chr10:101770551-101770551;C/G missense_variant False FGFBP2@p.R60C 1 0.846153846 ENSG00000137441 chr4:15962952-15962952;G/A missense_variant False FGFBP2@p.D41N 1 0.277777778 ENSG00000137441 chr4:15963009-15963009;C/T missense_variant False FGFBP1@p.V27* 1 0.184466019 ENSG00000137440 chr4:15936555-15936555;T/- frameshift_variant False FGF9@p.Q182H 1 0.215053763 ENSG00000102678 chr13:21701354-21701354;G/C missense_variant False FGF9@p.N167D 1 0.392156863 ENSG00000102678 chr13:21701307-21701307;A/G missense_variant False FGF9@p.G84E 1 0.375 ENSG00000102678 chr13:21672163-21672163;G/A missense_variant False FGF8@p.M128I 1 0.320754717 ENSG00000107831 chr10:101771490-101771490;C/T missense_variant False FGF4@p.R192Q 1 0.352941176 ENSG00000075388 chr11:69773355-69773355;C/T missense_variant False FGF8@p.I126M 1 0.17 ENSG00000107831 chr10:101771496-101771496;G/C missense_variant False FGF7@p.I28V 1 0.447916667 ENSG00000140285 chr15:49424379-49424379;A/G missense_variant False FGF6@p.R125Q 1 0.215686275 ENSG00000111241 chr12:4444209-4444209;C/T missense_variant False FGF5@p.R94T 1 0.324675325 ENSG00000138675 chr4:80267105-80267105;G/C missense_variant False FGF5@p.R266C 1 0.351351351 ENSG00000138675 chr4:80286661-80286661;C/T missense_variant False FGF5@p.F265C 1 0.394230769 ENSG00000138675 chr4:80286659-80286659;T/G missense_variant False FGFR1@p.D735H 1 0.823529412 ENSG00000077782 chr8:38414007-38414007;C/G missense_variant False FGFR1@p.G485A 1 0.630136986 ENSG00000077782 chr8:38417968-38417968;C/G missense_variant False FGFR1@p.H352Y 1 0.138461538 ENSG00000077782 chr8:38421824-38421824;G/A missense_variant False FGFR1@p.H798Y 1 0.142857143 ENSG00000077782 chr8:38413705-38413705;G/A missense_variant False FGFR1@p.L311F 1 0.318181818 ENSG00000077782 chr8:38424512-38424512;C/G missense_variant False FGFR1@p.S332F 1 0.191489362 ENSG00000077782 chr8:38421883-38421883;G/A missense_variant False FGFR2@p.G384R 1 0.061538462 ENSG00000066468 chr10:121515254-121515254;C/G missense_variant True FGFR2@p.K659N 1 0.3 ENSG00000066468 chr10:121488000-121488000;C/G missense_variant True FGFR2@p.M537I 1 0.230769231 ENSG00000066468 chr10:121498556-121498556;C/T missense_variant True FGFR2@p.N549K 1 0.326086957 ENSG00000066468 chr10:121498520-121498520;A/T missense_variant True FGFR2@p.P413L 1 0.198198198 ENSG00000066468 chr10:121515166-121515166;G/A missense_variant True FGFR2@p.R22Q 1 0.310810811 ENSG00000066468 chr10:121593753-121593753;C/T missense_variant True FGFR2@p.S780L 1 0.271317829 ENSG00000066468 chr10:121479984-121479984;G/A missense_variant True FGFR2@p.V86M 1 0.247787611 ENSG00000066468 chr10:121565558-121565558;C/T missense_variant True FGFR4@p.E314Q 1 0.117647059 ENSG00000160867 chr5:177092667-177092667;G/C missense_variant False FGFR4@p.H140Q 1 0.310344828 ENSG00000160867 chr5:177090809-177090809;C/A missense_variant False FGFR4@p.R493Q 1 0.094339623 ENSG00000160867 chr5:177093734-177093734;G/A missense_variant False FGF5@p.D38Y 1 0.219512195 ENSG00000138675 chr4:80266936-80266936;G/T missense_variant False FGF3@p.R104Q 1 0.057391304 ENSG00000186895 chr11:69816333-69816333;C/T missense_variant False FGD6@p.E996K 1 0.474747475 ENSG00000180263 chr12:95137530-95137530;C/T missense_variant False FGF10@p.G182V 1 0.08056872 ENSG00000070193 chr5:44305077-44305077;C/A missense_variant False FGF12@p.S227C 1 0.489247312 ENSG00000114279 chr3:192144061-192144061;G/C missense_variant False FGF12@p.R188T 1 0.368715084 ENSG00000114279 chr3:192170508-192170508;C/G missense_variant False FGF12@p.E204K 1 0.181102362 ENSG00000114279 chr3:192170461-192170461;C/T missense_variant False FGF11@p.A85V 1 0.387096774 ENSG00000161958 chr17:7441531-7441531;C/T missense_variant False FGF10@p.S52C 1 0.35443038 ENSG00000070193 chr5:44388528-44388528;G/C missense_variant False FGF10@p.M134I 1 0.26984127 ENSG00000070193 chr5:44310454-44310454;C/T missense_variant False FGD6@p.V1251I 1 0.257142857 ENSG00000180263 chr12:95091806-95091806;C/T missense_variant False FGF3@p.P141R 1 0.518518519 ENSG00000186895 chr11:69810603-69810603;G/C missense_variant False FGD6@p.T658Nfs*13 1 0.447619048 ENSG00000180263 chr12:95209310-95209311;GG/- frameshift_variant False FGD6@p.S832F 1 0.056074766 ENSG00000180263 chr12:95172691-95172691;G/A missense_variant False FGD6@p.S39C 1 0.261455526 ENSG00000180263 chr12:95211168-95211168;G/C missense_variant False FGD6@p.S1301L 1 0.318181818 ENSG00000180263 chr12:95089645-95089645;G/A missense_variant False FGD6@p.Q101E 1 0.162921348 ENSG00000180263 chr12:95210983-95210983;G/C missense_variant False FGD6@p.L133V 1 0.08056872 ENSG00000180263 chr12:95210887-95210887;A/C missense_variant False FGF13@p.E11K 1 0.65 ENSG00000129682 chrX:139204077-139204077;C/T missense_variant False FGF13@p.E176del 1 0.247933884 ENSG00000129682 chrX:138635529-138635531;CTT/- inframe_deletion False FGF13@p.I159T 1 0.9 ENSG00000129682 chrX:138635582-138635582;A/G missense_variant False FGF13@p.S238C 1 0.921348315 ENSG00000129682 chrX:138632875-138632875;G/C missense_variant False FGF13@p.Y99N 1 0.377777778 ENSG00000129682 chrX:138708821-138708821;A/T missense_variant False FGF14@p.G70S 1 0.38 ENSG00000102466 chr13:101875282-101875282;C/T missense_variant False FGF14@p.K38T 1 0.473684211 ENSG00000102466 chr13:102401566-102401566;T/G missense_variant False FGF14@p.S159C 1 0.265625 ENSG00000102466 chr13:101726743-101726743;G/C missense_variant False FGF14@p.Y76H 1 0.216666667 ENSG00000102466 chr13:101875264-101875264;A/G missense_variant False FGF17@p.P31A 1 0.567164179 ENSG00000158815 chr8:22046132-22046132;C/G missense_variant False FGF19@p.C102S 1 0.038461538 ENSG00000162344 chr11:69703292-69703292;C/G missense_variant False FGF1@p.E3K 1 0.119402985 ENSG00000113578 chr5:142614121-142614121;C/T missense_variant False FGF1@p.L148F 1 0.15 ENSG00000113578 chr5:142595316-142595316;G/A missense_variant False FGF22@p.G82A 1 0.3 ENSG00000070388 chr19:643265-643265;G/C missense_variant False FGF23@p.K142R 1 0.077586207 ENSG00000118972 chr12:4370674-4370674;T/C missense_variant False FGF23@p.Q67E 1 0.361538462 ENSG00000118972 chr12:4379384-4379384;G/C missense_variant False FGF23@p.R196G 1 0.407407407 ENSG00000118972 chr12:4370513-4370513;G/C missense_variant False F5@p.E861K 1 0.213836478 ENSG00000198734 chr1:169542509-169542509;C/T missense_variant False F5@p.D687N 1 0.092307692 ENSG00000198734 chr1:169543031-169543031;C/T missense_variant False HOXB4@p.L223F 1 0.348484848 ENSG00000182742 chr17:48576809-48576809;C/A missense_variant False EIF4G2@p.S781F 1 0.265306122 ENSG00000110321 chr11:10799407-10799407;G/A missense_variant False EIF4G3@p.E1010Q 1 0.488721805 ENSG00000075151 chr1:20860433-20860433;C/G missense_variant False EIF4G3@p.D631G 1 0.093023256 ENSG00000075151 chr1:20895441-20895441;T/C missense_variant False EIF4G3@p.D324N 1 0.28113879 ENSG00000075151 chr1:20942016-20942016;C/T missense_variant False EIF4G3@p.D1312N 1 0.322580645 ENSG00000075151 chr1:20829232-20829232;C/T missense_variant False EIF4G3@p.D1162Y 1 0.146551724 ENSG00000075151 chr1:20851378-20851378;C/A missense_variant False EIF4G3@p.C1364R 1 0.604166667 ENSG00000075151 chr1:20827628-20827628;A/G missense_variant False EIF4G2@p.S17L 1 0.241758242 ENSG00000110321 chr11:10806877-10806877;G/A missense_variant False EIF4G3@p.E1442K 1 0.268292683 ENSG00000075151 chr1:20817415-20817415;C/T missense_variant False EIF4G2@p.R460W 1 0.104166667 ENSG00000110321 chr11:10801696-10801696;G/A missense_variant False EIF4G2@p.R327C 1 0.377777778 ENSG00000110321 chr11:10803047-10803047;G/A missense_variant False EIF4G2@p.R241T 1 0.25 ENSG00000110321 chr11:10803571-10803571;C/G missense_variant False EIF4G2@p.Q419Ifs*22 1 0.14159292 ENSG00000110321 chr11:10802092-10802093;TG/- frameshift_variant False EIF4G2@p.P672T 1 0.272727273 ENSG00000110321 chr11:10800195-10800195;G/T missense_variant False EIF4G2@p.M258I 1 0.152777778 ENSG00000110321 chr11:10803519-10803519;C/T missense_variant False EIF4G3@p.E1425D 1 0.315789474 ENSG00000075151 chr1:20817464-20817464;C/G missense_variant False EIF4G3@p.E396V 1 0.106666667 ENSG00000075151 chr1:20941799-20941799;T/A missense_variant False ELF3@p.E300Q 1 0.157894737 ENSG00000163435 chr1:202013921-202013921;G/C missense_variant False EIF4G3@p.T616S 1 0.069767442 ENSG00000075151 chr1:20895486-20895486;G/C missense_variant False EIF5@p.R20C 1 0.300970874 ENSG00000100664 chr14:103335918-103335918;C/T missense_variant False EIF5@p.K288N 1 0.197916667 ENSG00000100664 chr14:103339291-103339291;G/C missense_variant False EIF5@p.I36T 1 0.383561644 ENSG00000100664 chr14:103336070-103336070;T/C missense_variant False EIF5@p.E395Q 1 0.128205128 ENSG00000100664 chr14:103340538-103340538;G/C missense_variant False EIF4H@p.S144F 1 0.257142857 ENSG00000106682 chr7:74190268-74190268;C/T missense_variant False EIF4G3@p.V1257A 1 0.294117647 ENSG00000075151 chr1:20840979-20840979;A/G missense_variant False EIF4G3@p.S304L 1 0.241706161 ENSG00000075151 chr1:20942075-20942075;G/A missense_variant False EIF4G3@p.G1182V 1 0.277777778 ENSG00000075151 chr1:20851317-20851317;C/A missense_variant False EIF4G3@p.R931H 1 0.442748092 ENSG00000075151 chr1:20864522-20864522;C/T missense_variant False EIF4G3@p.R578C 1 0.048484848 ENSG00000075151 chr1:20899796-20899796;G/A missense_variant False EIF4G3@p.Q1164E 1 0.323741007 ENSG00000075151 chr1:20851372-20851372;G/C missense_variant False EIF4G3@p.P99L 1 0.5 ENSG00000075151 chr1:20980363-20980363;G/A missense_variant False EIF4G3@p.P134S 1 0.260273973 ENSG00000075151 chr1:20973025-20973025;G/A missense_variant False EIF4G3@p.I1444V 1 0.514285714 ENSG00000075151 chr1:20817409-20817409;T/C missense_variant False EIF4G2@p.F855L 1 0.26744186 ENSG00000110321 chr11:10799085-10799085;G/C missense_variant False EIF4G1@p.R73H 1 0.248447205 ENSG00000114867 chr3:184317391-184317391;G/A missense_variant False EIF4G1@p.R1397L 1 0.209183673 ENSG00000114867 chr3:184331294-184331294;G/T missense_variant False EIF4E3@p.I194M 1 0.413793103 ENSG00000163412 chr3:71690056-71690056;G/C missense_variant False EIF4EBP2@p.R56Kfs*27 1 0.18699187 ENSG00000148730 chr10:70419934-70419935;AG/- frameshift_variant False EIF4EBP2@p.F58C 1 0.235849057 ENSG00000148730 chr10:70419941-70419941;T/G missense_variant False EIF4EBP1@p.S86N 1 0.245901639 ENSG00000187840 chr8:38057192-38057192;G/A missense_variant False EIF4E@p.R173T 1 0.131147541 ENSG00000151247 chr4:98884943-98884943;C/G missense_variant False EIF4E@p.P191A 1 0.160714286 ENSG00000151247 chr4:98881111-98881111;G/C missense_variant False EIF4E3@p.W139C 1 0.222222222 ENSG00000163412 chr3:71693930-71693930;C/G missense_variant False EIF4E3@p.G220V 1 0.12962963 ENSG00000163412 chr3:71684698-71684698;C/A missense_variant False EIF4G1@p.N1457K 1 0.06122449 ENSG00000114867 chr3:184331582-184331582;C/G missense_variant False EIF4E2@p.S181P 1 0.181818182 ENSG00000135930 chr2:232567090-232567090;T/C missense_variant False EIF4E2@p.R67T 1 0.25862069 ENSG00000135930 chr2:232557948-232557948;G/C missense_variant False EIF4E2@p.K43N 1 0.148148148 ENSG00000135930 chr2:232556524-232556524;G/C missense_variant False EIF4E1B@p.T31I 1 0.434782609 ENSG00000175766 chr5:176643158-176643158;C/T missense_variant False EIF4B@p.E48K 1 0.217391304 ENSG00000063046 chr12:53016601-53016601;G/A missense_variant False EIF4B@p.E158K 1 0.41025641 ENSG00000063046 chr12:53020021-53020021;G/A missense_variant False EIF4ENIF1@p.D239N 1 0.103448276 ENSG00000184708 chr22:31463004-31463004;C/T missense_variant False EIF4ENIF1@p.E516D 1 0.414285714 ENSG00000184708 chr22:31450325-31450325;C/G missense_variant False EIF4ENIF1@p.E552K 1 0.674157303 ENSG00000184708 chr22:31449462-31449462;C/T missense_variant False EIF4ENIF1@p.H28Ifs*11 1 0.516666667 ENSG00000184708 chr22:31488637-31488637;G/- frameshift_variant False EIF4ENIF1@p.L835R 1 0.384615385 ENSG00000184708 chr22:31441821-31441821;A/C missense_variant False EIF4ENIF1@p.M705V 1 0.257575758 ENSG00000184708 chr22:31443055-31443055;T/C missense_variant False EIF4ENIF1@p.R181T 1 0.232142857 ENSG00000184708 chr22:31463724-31463724;C/G missense_variant False EIF4ENIF1@p.S333C 1 0.366666667 ENSG00000184708 chr22:31455953-31455953;G/C missense_variant False EIF4ENIF1@p.S757Y 1 0.264367816 ENSG00000184708 chr22:31442055-31442055;G/T missense_variant False EIF4G1@p.E373Q 1 0.38071066 ENSG00000114867 chr3:184321701-184321701;G/C missense_variant False EIF4G1@p.E481Q 1 0.153846154 ENSG00000114867 chr3:184322025-184322025;G/C missense_variant False EIF4G1@p.E585D 1 0.462962963 ENSG00000114867 chr3:184322690-184322690;G/C missense_variant False EIF4G1@p.G1151D 1 0.445783133 ENSG00000114867 chr3:184327239-184327239;G/A missense_variant False EIF4G1@p.G1352R 1 0.590909091 ENSG00000114867 chr3:184328731-184328731;G/A missense_variant False EIF4G1@p.G143D 1 0.444444444 ENSG00000114867 chr3:184319692-184319692;G/A missense_variant False EIF4G1@p.I491T 1 0.264705882 ENSG00000114867 chr3:184322056-184322056;T/C missense_variant False EIF4G1@p.L1046F 1 0.327272727 ENSG00000114867 chr3:184325865-184325865;C/T missense_variant False EIF5@p.S149R 1 0.304347826 ENSG00000100664 chr14:103338334-103338334;T/G missense_variant False EIF5A@p.E124Q 1 0.894308943 ENSG00000132507 chr17:7311449-7311449;G/C missense_variant False EIF5A@p.E143K 1 0.113924051 ENSG00000132507 chr17:7311602-7311602;G/A missense_variant False ELAVL2@p.L105R 1 0.423076923 ENSG00000107105 chr9:23731041-23731041;A/C missense_variant False ELAVL4@p.D181H 1 0.310344828 ENSG00000162374 chr1:50195593-50195593;G/C missense_variant False ELAVL4@p.C298R 1 0.054347826 ENSG00000162374 chr1:50200927-50200927;T/C missense_variant False ELAVL3@p.R123W 1 0.222222222 ENSG00000196361 chr19:11458578-11458578;G/A missense_variant False ELAVL3@p.I183M 1 0.383928571 ENSG00000196361 chr19:11458225-11458225;G/C missense_variant False ELAVL3@p.G131W 1 0.258426966 ENSG00000196361 chr19:11458554-11458554;C/A missense_variant False ELAVL2@p.R224K 1 0.125 ENSG00000107105 chr9:23701421-23701421;C/T missense_variant False ELAVL2@p.E94D 1 0.222222222 ENSG00000107105 chr9:23731073-23731073;C/G missense_variant False ELAPOR2@p.G431V 1 0.220588235 ENSG00000164659 chr7:86925635-86925635;C/A missense_variant False ELAVL2@p.D89G 1 0.0625 ENSG00000107105 chr9:23731089-23731089;T/C missense_variant False ELAVL1@p.R217T 1 0.242424242 ENSG00000066044 chr19:7967571-7967571;C/G missense_variant False ELAVL1@p.Q119H 1 0.188888889 ENSG00000066044 chr19:7973798-7973798;C/G missense_variant False ELAVL1@p.I103M 1 0.422222222 ENSG00000066044 chr19:7973846-7973846;G/C missense_variant False ELAPOR2@p.S522L 1 0.304347826 ENSG00000164659 chr7:86918470-86918470;G/A missense_variant False ELAPOR2@p.P311_T314del 1 0.352941176 ENSG00000164659 chr7:86938866-86938877;GGTGTTTCTGGG/- inframe_deletion False ELAVL4@p.E187K 1 0.278481013 ENSG00000162374 chr1:50195611-50195611;G/A missense_variant False ELAVL4@p.L65F 1 0.140186916 ENSG00000162374 chr1:50145140-50145140;C/T missense_variant False ELAVL4@p.R366T 1 0.645833333 ENSG00000162374 chr1:50201132-50201132;G/C missense_variant False ELAVL4@p.S267F 1 0.204819277 ENSG00000162374 chr1:50200835-50200835;C/T missense_variant False ELAVL4@p.W297S 1 0.203125 ENSG00000162374 chr1:50200925-50200925;G/C missense_variant False ELF1@p.V18I 1 0.245901639 ENSG00000120690 chr13:40982003-40982003;C/T missense_variant False ELF2@p.C91R 1 0.291666667 ENSG00000109381 chr4:139073535-139073535;A/G missense_variant False ELF2@p.L478V 1 0.195652174 ENSG00000109381 chr4:139059333-139059333;G/C missense_variant False ELF3@p.D119Gfs*16 1 0.360655738 ENSG00000163435 chr1:202012143-202012144;-/G frameshift_variant False ELF3@p.D146Gfs*15 1 0.109289617 ENSG00000163435 chr1:202012392-202012393;-/G frameshift_variant False ELF3@p.D195* 1 0.295454545 ENSG00000163435 chr1:202012742-202012743;-/T frameshift_variant False ELF3@p.D195N 1 0.289473684 ENSG00000163435 chr1:202012744-202012744;G/A missense_variant False ELF3@p.D218Efs*6 1 0.418604651 ENSG00000163435 chr1:202013000-202013001;-/A frameshift_variant False ELF3@p.D259Gfs*42 1 0.481481481 ENSG00000163435 chr1:202013265-202013266;-/G frameshift_variant False ELF3@p.D86N 1 0.38317757 ENSG00000163435 chr1:202012049-202012049;G/A missense_variant False ELF3@p.D91N 1 0.319444444 ENSG00000163435 chr1:202012064-202012064;G/A missense_variant False ELF3@p.E108K 1 0.119047619 ENSG00000163435 chr1:202012115-202012115;G/A missense_variant False ELAPOR2@p.N490S 1 0.125 ENSG00000164659 chr7:86919241-86919241;T/C missense_variant False ELAPOR2@p.E317K 1 0.303030303 ENSG00000164659 chr7:86938859-86938859;C/T missense_variant False EIF5A@p.G10E 1 0.200680272 ENSG00000132507 chr17:7309664-7309664;G/A missense_variant False EIF5B@p.Q70E 1 0.289855072 ENSG00000158417 chr2:99360511-99360511;C/G missense_variant False EIPR1@p.N225_A226insD 1 0.264957265 ENSG00000032389 chr2:3194143-3194144;-/CAT inframe_insertion False EIPR1@p.E329K 1 0.152542373 ENSG00000032389 chr2:3192418-3192418;C/T missense_variant False EIF6@p.S43Y 1 0.4375 ENSG00000242372 chr20:35284241-35284241;G/T missense_variant False EIF5B@p.V890I 1 0.126213592 ENSG00000158417 chr2:99390625-99390625;G/A missense_variant False EIF5B@p.S589L 1 0.086956522 ENSG00000158417 chr2:99376560-99376560;C/T missense_variant False EIF5B@p.R604T 1 0.206349206 ENSG00000158417 chr2:99376605-99376605;G/C missense_variant False EIF5B@p.Q456K 1 0.047058824 ENSG00000158417 chr2:99368570-99368570;C/A missense_variant False ELAPOR1@p.Y799C 1 0.267605634 ENSG00000116299 chr1:109198072-109198072;A/G missense_variant False EIF5B@p.E884Q 1 0.238095238 ENSG00000158417 chr2:99390607-99390607;G/C missense_variant False EIF5B@p.E810D 1 0.277966102 ENSG00000158417 chr2:99390245-99390245;G/C missense_variant False EIF5B@p.E786K 1 0.386138614 ENSG00000158417 chr2:99389802-99389802;G/A missense_variant False EIF5B@p.E691D 1 0.125 ENSG00000158417 chr2:99382170-99382170;G/C missense_variant False EIF5AL1@p.E116K 1 0.228448276 ENSG00000253626 chr10:79512995-79512995;G/A missense_variant False EIF5A@p.G52S 1 0.333333333 ENSG00000132507 chr17:7309789-7309789;G/A missense_variant False EIPR1@p.V265M 1 0.222222222 ENSG00000032389 chr2:3194027-3194027;C/T missense_variant False ELAC1@p.I55M 1 0.347826087 ENSG00000141642 chr18:50984103-50984103;T/G missense_variant False ELAC1@p.P125S 1 0.559322034 ENSG00000141642 chr18:50984311-50984311;C/T missense_variant False ELAC2@p.G744E 1 0.112582781 ENSG00000006744 chr17:12993709-12993709;C/T missense_variant False ELAC2@p.R231K 1 0.638888889 ENSG00000006744 chr17:13010659-13010659;C/T missense_variant False ELANE@p.D259H 1 0.131034483 ENSG00000197561 chr19:856135-856135;G/C missense_variant False ELANE@p.R163C 1 0.169230769 ENSG00000197561 chr19:855684-855684;C/T missense_variant False ELANE@p.R35P 1 0.25 ENSG00000197561 chr19:852912-852912;G/C missense_variant False ELANE@p.S249C 1 0.157635468 ENSG00000197561 chr19:856106-856106;C/G missense_variant False ELAPOR1@p.C591G 1 0.177419355 ENSG00000116299 chr1:109192698-109192698;T/G missense_variant False ELAPOR1@p.C654dup 1 0.217391304 ENSG00000116299 chr1:109194432-109194433;-/TGC inframe_insertion False ELAPOR1@p.H457Y 1 0.425 ENSG00000116299 chr1:109189612-109189612;C/T missense_variant False ELAPOR1@p.I575M 1 0.326086957 ENSG00000116299 chr1:109192652-109192652;C/G missense_variant False ELAPOR1@p.Q207H 1 0.290322581 ENSG00000116299 chr1:109172493-109172493;G/C missense_variant False ELAPOR1@p.S321C 1 0.341463415 ENSG00000116299 chr1:109185054-109185054;C/G missense_variant False ELAPOR1@p.S942C 1 0.06122449 ENSG00000116299 chr1:109200752-109200752;C/G missense_variant False ELAPOR1@p.Y737C 1 0.426229508 ENSG00000116299 chr1:109197562-109197562;A/G missense_variant False EIF4B@p.E129K 1 0.125 ENSG00000063046 chr12:53019934-53019934;G/A missense_variant False EIF4A3@p.M297I 1 0.50877193 ENSG00000141543 chr17:80137478-80137478;C/T missense_variant False EIF4A3@p.M170I 1 0.259615385 ENSG00000141543 chr17:80139746-80139746;C/T missense_variant False EIF2B2@p.G98E 1 0.480392157 ENSG00000119718 chr14:75003559-75003559;G/A missense_variant False EIF2B4@p.M260V 1 0.118644068 ENSG00000115211 chr2:27367750-27367750;T/C missense_variant False EIF2B4@p.E439K 1 0.31 ENSG00000115211 chr2:27364775-27364775;C/T missense_variant False EIF2B4@p.E34Q 1 0.162921348 ENSG00000115211 chr2:27369525-27369525;C/G missense_variant False EIF2B3@p.K254N 1 0.153374233 ENSG00000070785 chr1:44881634-44881634;C/G missense_variant False EIF2B2@p.S100N 1 0.310077519 ENSG00000119718 chr14:75003565-75003565;G/A missense_variant False EIF2B2@p.L118R 1 0.063291139 ENSG00000119718 chr14:75003619-75003619;T/G missense_variant False EIF2B2@p.E342K 1 0.145251397 ENSG00000119718 chr14:75009156-75009156;G/A missense_variant False EIF2AK4@p.E636K 1 0.288888889 ENSG00000128829 chr15:39976501-39976501;G/A missense_variant False EIF2AK4@p.W528C 1 0.056603774 ENSG00000128829 chr15:39972938-39972938;G/C missense_variant False EIF2AK4@p.V637Gfs*12 1 0.142857143 ENSG00000128829 chr15:39976494-39976495;-/AAGGGCG frameshift_variant False EIF2AK4@p.S718Lfs*74 1 0.369230769 ENSG00000128829 chr15:39976747-39976748;-/TG frameshift_variant False EIF2AK4@p.R1194T 1 0.236842105 ENSG00000128829 chr15:40009618-40009618;G/C missense_variant False EIF2AK4@p.F270L 1 0.205128205 ENSG00000128829 chr15:39961850-39961850;C/G missense_variant False EIF2AK4@p.E740K 1 0.207317073 ENSG00000128829 chr15:39976813-39976813;G/A missense_variant False EIF2B4@p.R357W 1 0.427792916 ENSG00000115211 chr2:27366881-27366881;G/A missense_variant False EIF2B4@p.S187R 1 0.061538462 ENSG00000115211 chr2:27368401-27368401;G/T missense_variant False EIF2B4@p.S80W 1 0.189873418 ENSG00000115211 chr2:27369185-27369185;G/C missense_variant False EIF2B5@p.E426Q 1 0.301587302 ENSG00000145191 chr3:184142020-184142020;G/C missense_variant False EIF2B5@p.E544K 1 0.35 ENSG00000145191 chr3:184142838-184142838;G/A missense_variant False EIF2B5@p.L178F 1 0.292682927 ENSG00000145191 chr3:184137901-184137901;G/C missense_variant False EIF2B5@p.L690V 1 0.355555556 ENSG00000145191 chr3:184144645-184144645;C/G missense_variant False EIF2B5@p.P328S 1 0.426829268 ENSG00000145191 chr3:184140532-184140532;C/T missense_variant False EIF2B5@p.P389R 1 0.146341463 ENSG00000145191 chr3:184140716-184140716;C/G missense_variant False EIF2B5@p.Q341H 1 0.180232558 ENSG00000145191 chr3:184140573-184140573;G/C missense_variant False EIF2S1@p.A211P 1 0.423529412 ENSG00000134001 chr14:67381643-67381643;G/C missense_variant False EIF2S1@p.D139N 1 0.245283019 ENSG00000134001 chr14:67376532-67376532;G/A missense_variant False EIF2S1@p.E263Q 1 0.162162162 ENSG00000134001 chr14:67382555-67382555;G/C missense_variant False EIF2S1@p.M237I 1 0.305084746 ENSG00000134001 chr14:67382479-67382479;G/C missense_variant False EIF2S1@p.S161F 1 0.50877193 ENSG00000134001 chr14:67380667-67380667;C/T missense_variant False EIF2S2@p.S286L 1 0.126582278 ENSG00000125977 chr20:34089875-34089875;G/A missense_variant False EIF2S3@p.D263H 1 0.333333333 ENSG00000130741 chrX:24066012-24066012;G/C missense_variant False EIF2AK4@p.E734K 1 0.208955224 ENSG00000128829 chr15:39976795-39976795;G/A missense_variant False EIF2AK4@p.E578K 1 0.350877193 ENSG00000128829 chr15:39973663-39973663;G/A missense_variant False EIF2S3@p.G335S 1 0.282608696 ENSG00000130741 chrX:24068099-24068099;G/A missense_variant False EIF1B@p.G49D 1 0.114754098 ENSG00000114784 chr3:40311007-40311007;G/A missense_variant False EIF2AK1@p.S41C 1 0.208791209 ENSG00000086232 chr7:6054701-6054701;G/C missense_variant False EIF2AK1@p.I27M 1 0.307692308 ENSG00000086232 chr7:6059003-6059003;G/C missense_variant False EIF2AK1@p.H230Y 1 0.088235294 ENSG00000086232 chr7:6044604-6044604;G/A missense_variant False EIF2AK1@p.E364K 1 0.488188976 ENSG00000086232 chr7:6040921-6040921;C/T missense_variant False EIF2AK1@p.E294K 1 0.101265823 ENSG00000086232 chr7:6041131-6041131;C/T missense_variant False EIF2A@p.D311H 1 0.391304348 ENSG00000144895 chr3:150572077-150572077;G/C missense_variant False EID3@p.S61L 1 0.086206897 ENSG00000255150 chr12:104304116-104304116;C/T missense_variant False EIF2AK4@p.E1629D 1 0.272727273 ENSG00000128829 chr15:40034439-40034439;A/C missense_variant False EID3@p.E284Q 1 0.083333333 ENSG00000255150 chr12:104304784-104304784;G/C missense_variant False EID2B@p.E98Q 1 0.125 ENSG00000176401 chr19:39532511-39532511;C/G missense_variant False EID2@p.L227R 1 0.243243243 ENSG00000176396 chr19:39539400-39539400;A/C missense_variant False EID1@p.E53K 1 0.545454545 ENSG00000255302 chr15:48878333-48878333;G/A missense_variant False EID1@p.E152K 1 0.351351351 ENSG00000255302 chr15:48878630-48878630;G/A missense_variant False EI24@p.S138N 1 0.617283951 ENSG00000149547 chr11:125578229-125578229;G/A missense_variant False EIF2AK2@p.E12Q 1 0.117283951 ENSG00000055332 chr2:37147773-37147773;C/G missense_variant False EIF2AK2@p.E73Q 1 0.270833333 ENSG00000055332 chr2:37146876-37146876;C/G missense_variant False EIF2AK2@p.I532M 1 0.303571429 ENSG00000055332 chr2:37107333-37107333;T/C missense_variant False EIF2AK2@p.M252I 1 0.130890052 ENSG00000055332 chr2:37135513-37135513;C/T missense_variant False EIF2AK2@p.R58T 1 0.112676056 ENSG00000055332 chr2:37146920-37146920;C/G missense_variant False EIF2AK2@p.S204C 1 0.165048544 ENSG00000055332 chr2:37138346-37138346;G/C missense_variant False EIF2AK2@p.T88A 1 0.265306122 ENSG00000055332 chr2:37141680-37141680;T/C missense_variant False EIF2AK3@p.E84Q 1 0.258064516 ENSG00000172071 chr2:88627025-88627025;C/G missense_variant False EIF2AK3@p.F259L 1 0.458333333 ENSG00000172071 chr2:88591043-88591043;G/C missense_variant False EIF2AK3@p.P714T 1 0.300970874 ENSG00000172071 chr2:88575343-88575343;G/T missense_variant False EIF2AK3@p.R826Q 1 0.504761905 ENSG00000172071 chr2:88575006-88575006;C/T missense_variant False EIF2AK3@p.S404L 1 0.243478261 ENSG00000172071 chr2:88588856-88588856;G/A missense_variant False EIF2AK3@p.T536A 1 0.5 ENSG00000172071 chr2:88585885-88585885;T/C missense_variant False EIF2AK3@p.V192I 1 0.558441558 ENSG00000172071 chr2:88595528-88595528;C/T missense_variant False EIF2AK3@p.V319A 1 0.317307692 ENSG00000172071 chr2:88590864-88590864;A/G missense_variant False EIF2AK4@p.E111G 1 0.253968254 ENSG00000128829 chr15:39943457-39943457;A/G missense_variant False EIF2AK4@p.E1183K 1 0.420560748 ENSG00000128829 chr15:40008166-40008166;G/A missense_variant False EIF2S3@p.E295K 1 0.136752137 ENSG00000130741 chrX:24067979-24067979;G/A missense_variant False EIF2S3@p.G4E 1 0.126315789 ENSG00000130741 chrX:24054979-24054979;G/A missense_variant False EIF4A3@p.G87E 1 0.043010753 ENSG00000141543 chr17:80141831-80141831;C/T missense_variant False EIF3M@p.A48S 1 0.176470588 ENSG00000149100 chr11:32587111-32587111;G/T missense_variant False EIF4A1@p.K291N 1 0.173913043 ENSG00000161960 chr17:7577673-7577673;G/T missense_variant False EIF3M@p.G135R 1 0.284671533 ENSG00000149100 chr11:32589100-32589100;G/A missense_variant False EIF3M@p.E11K 1 0.566666667 ENSG00000149100 chr11:32583918-32583918;G/A missense_variant False EIF3M@p.D41N 1 0.209876543 ENSG00000149100 chr11:32587090-32587090;G/A missense_variant False EIF3M@p.D295H 1 0.099447514 ENSG00000149100 chr11:32600772-32600772;G/C missense_variant False EIF3M@p.D203H 1 0.11827957 ENSG00000149100 chr11:32593939-32593939;G/C missense_variant False EIF3L@p.R105T 1 0.2 ENSG00000100129 chr22:37855585-37855585;G/C missense_variant False EIF3I@p.Q15H 1 0.235294118 ENSG00000084623 chr1:32222579-32222579;G/C missense_variant False EIF3L@p.Q402H 1 0.238938053 ENSG00000100129 chr22:37877802-37877802;G/C missense_variant False EIF3L@p.H232Y 1 0.727272727 ENSG00000100129 chr22:37870290-37870290;C/T missense_variant False EIF3L@p.E9K 1 0.408360129 ENSG00000100129 chr22:37849474-37849474;G/A missense_variant False EIF3L@p.E134Q 1 0.234527687 ENSG00000100129 chr22:37858705-37858705;G/C missense_variant False EIF3K@p.E5K 1 0.368421053 ENSG00000178982 chr19:38619281-38619281;G/A missense_variant False EIF3K@p.E110Q 1 0.411960133 ENSG00000178982 chr19:38626076-38626076;G/C missense_variant False EIF4A1@p.R319C 1 0.516666667 ENSG00000161960 chr17:7577875-7577875;C/T missense_variant False EIF4A1@p.R319S 1 0.06557377 ENSG00000161960 chr17:7577875-7577875;C/A missense_variant False EIF4A1@p.R385G 1 0.166666667 ENSG00000161960 chr17:7578418-7578418;C/G missense_variant False EIF4A1@p.S78C 1 0.068181818 ENSG00000161960 chr17:7575146-7575146;C/G missense_variant False EIF4A2@p.A85S 1 0.422680412 ENSG00000156976 chr3:186785006-186785006;G/T missense_variant False EIF4A2@p.C265* 1 0.201923077 ENSG00000156976 chr3:186787142-186787143;AC/- frameshift_variant False EIF4A2@p.D21N 1 0.534722222 ENSG00000156976 chr3:186784463-186784463;G/A missense_variant False EIF4A2@p.E144K 1 0.12 ENSG00000156976 chr3:186785964-186785964;G/A missense_variant False EIF4A2@p.E30K 1 0.255319149 ENSG00000156976 chr3:186784576-186784576;G/A missense_variant False EIF4A2@p.F319V 1 0.248730964 ENSG00000156976 chr3:186787540-186787540;T/G missense_variant False EIF4A2@p.G138E 1 0.288888889 ENSG00000156976 chr3:186785947-186785947;G/A missense_variant False EIF4A2@p.M401I 1 0.25 ENSG00000156976 chr3:186789248-186789248;G/A missense_variant False EIF4A2@p.S5F 1 0.292307692 ENSG00000156976 chr3:186783624-186783624;C/T missense_variant False EIF4A2@p.T290A 1 0.564417178 ENSG00000156976 chr3:186787223-186787223;A/G missense_variant False EIF4A2@p.V181Wfs*8 1 0.487179487 ENSG00000156976 chr3:186786182-186786185;TGTT/- frameshift_variant False EIF4A3@p.E59Q 1 0.090909091 ENSG00000141543 chr17:80144239-80144239;C/G missense_variant False EIF4A3@p.F40L 1 0.191176471 ENSG00000141543 chr17:80146842-80146842;G/C missense_variant False EIF3J@p.R153T 1 0.197368421 ENSG00000104131 chr15:44557537-44557537;G/C missense_variant False EIF3I@p.G158R 1 0.121621622 ENSG00000084623 chr1:32226474-32226474;G/A missense_variant False EIF2S3@p.T435I 1 0.321428571 ENSG00000130741 chrX:24073212-24073212;C/T missense_variant False EIF3A@p.L1289V 1 0.493150685 ENSG00000107581 chr10:119037173-119037173;G/C missense_variant False EIF3B@p.F437L 1 0.152173913 ENSG00000106263 chr7:2366546-2366546;C/G missense_variant False EIF3A@p.S1256C 1 0.15 ENSG00000107581 chr10:119037271-119037271;G/C missense_variant False EIF3A@p.R946T 1 0.961538462 ENSG00000107581 chr10:119042683-119042683;C/G missense_variant False EIF3A@p.R931T 1 0.128571429 ENSG00000107581 chr10:119042728-119042728;C/G missense_variant False EIF3A@p.R1020Q 1 0.287037037 ENSG00000107581 chr10:119042461-119042461;C/T missense_variant False EIF3A@p.P998S 1 0.390532544 ENSG00000107581 chr10:119042528-119042528;G/A missense_variant False EIF3A@p.H257D 1 0.160714286 ENSG00000107581 chr10:119069627-119069627;G/C missense_variant False EIF3I@p.E169Q 1 0.251101322 ENSG00000084623 chr1:32226507-32226507;G/C missense_variant False EIF3A@p.E875Q 1 0.256410256 ENSG00000107581 chr10:119049836-119049836;C/G missense_variant False EIF3A@p.E224Q 1 0.068181818 ENSG00000107581 chr10:119070957-119070957;C/G missense_variant False EIF3A@p.E1350K 1 0.276923077 ENSG00000107581 chr10:119036140-119036140;C/T missense_variant False EIF3A@p.D60N 1 0.647058824 ENSG00000107581 chr10:119073809-119073809;C/T missense_variant False EIF3A@p.D373N 1 0.222222222 ENSG00000107581 chr10:119065404-119065404;C/T missense_variant False EIF3A@p.D1044N 1 0.173333333 ENSG00000107581 chr10:119042390-119042390;C/T missense_variant False EIF3B@p.G215R 1 0.076923077 ENSG00000106263 chr7:2360853-2360853;G/C missense_variant False EIF3B@p.R199Q 1 0.333333333 ENSG00000106263 chr7:2360806-2360806;G/A missense_variant False EIF3B@p.S588Y 1 0.23880597 ENSG00000106263 chr7:2372748-2372748;C/A missense_variant False EIF3D@p.D110H 1 0.416666667 ENSG00000100353 chr22:36523959-36523959;C/G missense_variant False EIF3D@p.D249N 1 0.233333333 ENSG00000100353 chr22:36518877-36518877;C/T missense_variant False EIF3D@p.E130K 1 0.140776699 ENSG00000100353 chr22:36523899-36523899;C/T missense_variant False EIF3D@p.E77K 1 0.108247423 ENSG00000100353 chr22:36524673-36524673;C/T missense_variant False EIF3D@p.R410C 1 0.085365854 ENSG00000100353 chr22:36512581-36512581;G/A missense_variant False EIF3E@p.D43A 1 0.178082192 ENSG00000104408 chr8:108241876-108241876;T/G missense_variant False EIF3E@p.N373T 1 0.226993865 ENSG00000104408 chr8:108203447-108203447;T/G missense_variant False EIF3E@p.S399L 1 0.234234234 ENSG00000104408 chr8:108203086-108203086;G/A missense_variant False EIF3E@p.T7A 1 0.477272727 ENSG00000104408 chr8:108248684-108248684;T/C missense_variant False EIF3E@p.Y152H 1 0.254237288 ENSG00000104408 chr8:108235015-108235015;A/G missense_variant False EIF3F@p.E188K 1 0.535714286 ENSG00000175390 chr11:7992933-7992933;G/A missense_variant False EIF3F@p.P39S 1 0.607142857 ENSG00000175390 chr11:7987467-7987467;C/T missense_variant False EIF3H@p.M253I 1 0.303030303 ENSG00000147677 chr8:116648875-116648875;C/G missense_variant False EIF3I@p.D313N 1 0.225806452 ENSG00000084623 chr1:32231161-32231161;G/A missense_variant False ELF3@p.E135K 1 0.46 ENSG00000163435 chr1:202012361-202012361;G/A missense_variant False ELF3@p.F15Lfs*28 1 0.151291513 ENSG00000163435 chr1:202011181-202011181;C/- frameshift_variant False EHMT2@p.S379L 1 0.5 ENSG00000204371 chr6:31889049-31889049;G/A missense_variant False EML1@p.W570R 1 0.309090909 ENSG00000066629 chr14:99914653-99914653;T/C missense_variant False EML2@p.P51L 1 0.295454545 ENSG00000125746 chr19:45638532-45638532;G/A missense_variant False EML2@p.M32I 1 0.333333333 ENSG00000125746 chr19:45638588-45638588;C/T missense_variant False EML2@p.L209V 1 0.446808511 ENSG00000125746 chr19:45626821-45626821;A/C missense_variant False EML2@p.G560R 1 0.211009174 ENSG00000125746 chr19:45614620-45614620;C/G missense_variant False EML2@p.G348R 1 0.514705882 ENSG00000125746 chr19:45621287-45621287;C/T missense_variant False EML2@p.E345K 1 0.313432836 ENSG00000125746 chr19:45621296-45621296;C/T missense_variant False EML1@p.S767L 1 0.395833333 ENSG00000066629 chr14:99939305-99939305;C/T missense_variant False EML3@p.P61S 1 0.181818182 ENSG00000149499 chr11:62611438-62611438;G/A missense_variant False EML1@p.G142E 1 0.189655172 ENSG00000066629 chr14:99878526-99878526;G/A missense_variant False EML1@p.F766L 1 0.221052632 ENSG00000066629 chr14:99939303-99939303;C/G missense_variant False EML1@p.E750K 1 0.303030303 ENSG00000066629 chr14:99939253-99939253;G/A missense_variant False EML1@p.E261Q 1 0.72 ENSG00000066629 chr14:99897248-99897248;G/C missense_variant False EML1@p.D647N 1 0.240963855 ENSG00000066629 chr14:99936058-99936058;G/A missense_variant False EMILIN3@p.S516L 1 0.265151515 ENSG00000183798 chr20:41362022-41362022;G/A missense_variant False EML2@p.S423L 1 0.454545455 ENSG00000125746 chr19:45617684-45617684;G/A missense_variant False EML3@p.R167W 1 0.141509434 ENSG00000149499 chr11:62610946-62610946;G/A missense_variant False ELF3@p.F278L 1 0.216216216 ENSG00000163435 chr1:202013857-202013857;C/A missense_variant False EML5@p.L1010V 1 0.311926606 ENSG00000165521 chr14:88681986-88681986;G/C missense_variant False EML5@p.V1057I 1 0.517241379 ENSG00000165521 chr14:88665445-88665445;C/T missense_variant False EML5@p.S880C 1 0.215686275 ENSG00000165521 chr14:88688374-88688374;G/C missense_variant False EML5@p.S1091L 1 0.260869565 ENSG00000165521 chr14:88665342-88665342;G/A missense_variant False EML5@p.R1374T 1 0.253731343 ENSG00000165521 chr14:88642985-88642985;C/G missense_variant False EML5@p.P335S 1 0.317829457 ENSG00000165521 chr14:88736410-88736410;G/A missense_variant False EML5@p.L738F 1 0.098360656 ENSG00000165521 chr14:88702470-88702470;C/G missense_variant False EML5@p.I1012M 1 0.337349398 ENSG00000165521 chr14:88681978-88681978;G/C missense_variant False EML3@p.R827G 1 0.625 ENSG00000149499 chr11:62602767-62602767;G/C missense_variant False EML5@p.G1119V 1 0.421052632 ENSG00000165521 chr14:88664546-88664546;C/A missense_variant False EML5@p.E1289K 1 0.254545455 ENSG00000165521 chr14:88658199-88658199;C/T missense_variant False EML5@p.D1877N 1 0.375 ENSG00000165521 chr14:88616869-88616869;C/T missense_variant False EML4@p.R344T 1 0.224806202 ENSG00000143924 chr2:42286288-42286288;G/C missense_variant False EML4@p.P175L 1 0.277777778 ENSG00000143924 chr2:42263189-42263189;C/T missense_variant False EML4@p.G786V 1 0.098765432 ENSG00000143924 chr2:42328901-42328901;G/T missense_variant False EMILIN3@p.R721I 1 0.482758621 ENSG00000183798 chr20:41361407-41361407;C/A missense_variant False EMILIN3@p.R306Q 1 0.375 ENSG00000183798 chr20:41362652-41362652;C/T missense_variant False EMILIN3@p.Q683E 1 0.1875 ENSG00000183798 chr20:41361522-41361522;G/C missense_variant False EMID1@p.L384F 1 0.171779141 ENSG00000186998 chr22:29254235-29254235;G/C missense_variant False EMILIN1@p.R925W 1 0.098159509 ENSG00000138080 chr2:27085737-27085737;C/T missense_variant False EMILIN1@p.R66L 1 0.157894737 ENSG00000138080 chr2:27080177-27080177;G/T missense_variant False EMILIN1@p.R27G 1 0.368421053 ENSG00000138080 chr2:27079144-27079144;C/G missense_variant False EMILIN1@p.E131K 1 0.222222222 ENSG00000138080 chr2:27080832-27080832;G/A missense_variant False EMID1@p.S140N 1 0.220930233 ENSG00000186998 chr22:29226505-29226505;G/A missense_variant False EMID1@p.R236Q 1 0.524590164 ENSG00000186998 chr22:29232286-29232286;G/A missense_variant False EME2@p.D357H 1 0.111111111 ENSG00000197774 chr16:1776167-1776167;G/C missense_variant False EMILIN3@p.L456M 1 0.288770053 ENSG00000183798 chr20:41362203-41362203;A/T missense_variant False EME1@p.S115C 1 0.279792746 ENSG00000154920 chr17:50375552-50375552;C/G missense_variant False EME1@p.E86K 1 0.236842105 ENSG00000154920 chr17:50375464-50375464;G/A missense_variant False EME1@p.E39Q 1 0.333333333 ENSG00000154920 chr17:50375323-50375323;G/C missense_variant False EME1@p.E39K 1 0.35 ENSG00000154920 chr17:50375323-50375323;G/A missense_variant False EME1@p.E283Q 1 0.289855072 ENSG00000154920 chr17:50376137-50376137;G/C missense_variant False EMD@p.S58C 1 0.315068493 ENSG00000102119 chrX:154379780-154379780;C/G missense_variant False EMILIN1@p.S491C 1 0.243243243 ENSG00000138080 chr2:27083043-27083043;C/G missense_variant False EMILIN2@p.A134T 1 0.262135922 ENSG00000132205 chr18:2885106-2885106;G/A missense_variant False EMILIN2@p.D218N 1 0.284090909 ENSG00000132205 chr18:2890779-2890779;G/A missense_variant False EMILIN2@p.E345K 1 0.239520958 ENSG00000132205 chr18:2891160-2891160;G/A missense_variant False EMILIN2@p.H708N 1 0.151162791 ENSG00000132205 chr18:2892249-2892249;C/A missense_variant False EMILIN2@p.I416V 1 0.55 ENSG00000132205 chr18:2891373-2891373;A/G missense_variant False EMILIN2@p.K759N 1 0.225806452 ENSG00000132205 chr18:2892404-2892404;G/C missense_variant False EMILIN2@p.N927K 1 0.620253165 ENSG00000132205 chr18:2909776-2909776;C/G missense_variant False EMILIN2@p.Q177H 1 0.408163265 ENSG00000132205 chr18:2890658-2890658;G/T missense_variant False EMILIN2@p.R476W 1 0.217105263 ENSG00000132205 chr18:2891553-2891553;C/T missense_variant False EMILIN2@p.R94T 1 0.2 ENSG00000132205 chr18:2884987-2884987;G/C missense_variant False EMILIN2@p.S391L 1 0.415384615 ENSG00000132205 chr18:2891299-2891299;C/T missense_variant False EMILIN2@p.S750L 1 0.106951872 ENSG00000132205 chr18:2892376-2892376;C/T missense_variant False EMILIN3@p.E478K 1 0.172413793 ENSG00000183798 chr20:41362137-41362137;C/T missense_variant False EMILIN3@p.E536Q 1 0.103896104 ENSG00000183798 chr20:41361963-41361963;C/G missense_variant False EMILIN3@p.E621K 1 0.455882353 ENSG00000183798 chr20:41361708-41361708;C/T missense_variant False EMILIN3@p.L116H 1 0.325791855 ENSG00000183798 chr20:41363805-41363805;A/T missense_variant False EMP2@p.S114C 1 0.158536585 ENSG00000213853 chr16:10533068-10533068;G/C missense_variant False EMSY@p.D1148H 1 0.262626263 ENSG00000158636 chr11:76545965-76545965;G/C missense_variant False EMSY@p.E1183K 1 0.230769231 ENSG00000158636 chr11:76546070-76546070;G/A missense_variant False ENO1@p.I3V 1 0.476744186 ENSG00000074800 chr1:8874902-8874902;T/C missense_variant False ENOSF1@p.E420K 1 0.538461538 ENSG00000132199 chr18:675395-675395;C/T missense_variant False ENOPH1@p.G80V 1 0.107142857 ENSG00000145293 chr4:82451095-82451095;G/T missense_variant False ENO3@p.N338K 1 0.28 ENSG00000108515 chr17:4956090-4956090;C/A missense_variant False ENO3@p.E125V 1 0.453703704 ENSG00000108515 chr17:4953775-4953775;A/T missense_variant False ENO2@p.L77V 1 0.271186441 ENSG00000111674 chr12:6916718-6916718;C/G missense_variant False ENO1@p.V66I 1 0.333333333 ENSG00000074800 chr1:8870496-8870496;C/T missense_variant False ENKUR@p.R129T 1 0.173913043 ENSG00000151023 chr10:24995707-24995707;C/G missense_variant False ENG@p.V539E 1 0.454545455 ENSG00000106991 chr9:127818190-127818190;A/T missense_variant False ENKD1@p.R207Q 1 0.357142857 ENSG00000124074 chr16:67663780-67663780;C/T missense_variant False ENKD1@p.E329Q 1 0.164556962 ENSG00000124074 chr16:67663217-67663217;C/G missense_variant False ENKD1@p.E320Q 1 0.197183099 ENSG00000124074 chr16:67663244-67663244;C/G missense_variant False ENGASE@p.P674S 1 0.470588235 ENSG00000167280 chr17:79086137-79086137;C/T missense_variant False ENGASE@p.L435W 1 0.055555556 ENSG00000167280 chr17:79083813-79083813;T/G missense_variant False ENGASE@p.A610_P615del 1 0.125 ENSG00000167280 chr17:79085943-79085960;CTGCCAGCCTGCTGGCCC/- inframe_deletion False ENOSF1@p.P291Q 1 0.4375 ENSG00000132199 chr18:685934-685934;G/T missense_variant False ENOX1@p.E446K 1 0.07253886 ENSG00000120658 chr13:43298456-43298456;C/T missense_variant False ENOX1@p.E455K 1 0.430769231 ENSG00000120658 chr13:43298429-43298429;C/T missense_variant False ENOX1@p.G341V 1 0.125 ENSG00000120658 chr13:43344552-43344552;C/A missense_variant False ENOX1@p.G584A 1 0.578947368 ENSG00000120658 chr13:43224102-43224102;C/G missense_variant False ENOX1@p.Q220L 1 0.108108108 ENSG00000120658 chr13:43356083-43356083;T/A missense_variant False ENOX1@p.R370C 1 0.459770115 ENSG00000120658 chr13:43326454-43326454;G/A missense_variant False ENOX2@p.E394Q 1 0.931034483 ENSG00000165675 chrX:130656617-130656617;C/G missense_variant False ENOX2@p.M314T 1 0.3878327 ENSG00000165675 chrX:130667583-130667583;A/G missense_variant False ENPEP@p.E84K 1 0.329411765 ENSG00000138792 chr4:110476664-110476664;G/A missense_variant False ENPEP@p.L831V 1 0.228571429 ENSG00000138792 chr4:110549876-110549876;C/G missense_variant False ENPEP@p.Q15E 1 0.18018018 ENSG00000138792 chr4:110476457-110476457;C/G missense_variant False ENPEP@p.Q570E 1 0.52 ENSG00000138792 chr4:110520347-110520347;C/G missense_variant False ENPEP@p.R299I 1 0.426966292 ENSG00000138792 chr4:110491142-110491142;G/T missense_variant False ENPP1@p.H413R 1 0.10483871 ENSG00000197594 chr6:131868091-131868091;A/G missense_variant False ENPP1@p.Q770E 1 0.323529412 ENSG00000197594 chr6:131883771-131883771;C/G missense_variant False ENPP1@p.R456Q 1 0.355932203 ENSG00000197594 chr6:131869451-131869451;G/A missense_variant False ENGASE@p.A609_A614del 1 0.378378378 ENSG00000167280 chr17:79085941-79085958;CGCTGCCAGCCTGCTGGC/- inframe_deletion False ENDOV@p.R229S 1 0.333333333 ENSG00000173818 chr17:80425593-80425593;G/T missense_variant False EMSY@p.L1154F 1 0.306818182 ENSG00000158636 chr11:76545985-76545985;G/C missense_variant False EN1@p.Q84E 1 0.162790698 ENSG00000163064 chr2:118846918-118846918;G/C missense_variant False ENAM@p.D489Y 1 0.311111111 ENSG00000132464 chr4:70642891-70642891;G/T missense_variant False ENAH@p.T428R 1 0.421768707 ENSG00000154380 chr1:225512952-225512952;G/C missense_variant False ENAH@p.Q130E 1 0.125 ENSG00000154380 chr1:225530600-225530600;G/C missense_variant False ENAH@p.G443S 1 0.373493976 ENSG00000154380 chr1:225512908-225512908;C/T missense_variant False ENAH@p.E569D 1 0.136363636 ENSG00000154380 chr1:225498378-225498378;T/G missense_variant False EN1@p.S168L 1 0.571428571 ENSG00000163064 chr2:118846665-118846665;G/A missense_variant False EN1@p.I364M 1 0.150943396 ENSG00000163064 chr2:118843025-118843025;G/C missense_variant False ENDOU@p.I303M 1 0.340909091 ENSG00000111405 chr12:47712579-47712579;G/C missense_variant False EMX2@p.H132Y 1 0.306122449 ENSG00000170370 chr10:117543661-117543661;C/T missense_variant False EMSY@p.Y144C 1 0.55483871 ENSG00000158636 chr11:76459945-76459945;A/G missense_variant False EMSY@p.S643C 1 0.274509804 ENSG00000158636 chr11:76526568-76526568;C/G missense_variant False EMSY@p.S1130L 1 0.46728972 ENSG00000158636 chr11:76545912-76545912;C/T missense_variant False EMSY@p.R18I 1 0.492063492 ENSG00000158636 chr11:76446991-76446991;G/T missense_variant False EMSY@p.P153L 1 0.152466368 ENSG00000158636 chr11:76459972-76459972;C/T missense_variant False ENAM@p.E687D 1 0.141509434 ENSG00000132464 chr4:70643487-70643487;A/T missense_variant False ENAM@p.G667E 1 0.342592593 ENSG00000132464 chr4:70643426-70643426;G/A missense_variant False ENAM@p.G991R 1 0.18627451 ENSG00000132464 chr4:70644397-70644397;G/A missense_variant False ENAM@p.H559Y 1 0.1 ENSG00000132464 chr4:70643101-70643101;C/T missense_variant False ENAM@p.I923M 1 0.465753425 ENSG00000132464 chr4:70644195-70644195;C/G missense_variant False ENAM@p.L420V 1 0.04 ENSG00000132464 chr4:70642684-70642684;C/G missense_variant False ENAM@p.P293S 1 0.444444444 ENSG00000132464 chr4:70642303-70642303;C/T missense_variant False ENAM@p.R616K 1 0.075757576 ENSG00000132464 chr4:70643273-70643273;G/A missense_variant False ENAM@p.R7K 1 0.130890052 ENSG00000132464 chr4:70629520-70629520;G/A missense_variant False ENAM@p.S869R 1 0.082568807 ENSG00000132464 chr4:70644033-70644033;C/G missense_variant False ENAM@p.S959Y 1 0.44 ENSG00000132464 chr4:70644302-70644302;C/A missense_variant False ENC1@p.E254K 1 0.274509804 ENSG00000171617 chr5:74635726-74635726;C/T missense_variant False ENC1@p.H24Y 1 0.3 ENSG00000171617 chr5:74636416-74636416;G/A missense_variant False ENC1@p.S168C 1 0.280612245 ENSG00000171617 chr5:74635983-74635983;G/C missense_variant False ENDOD1@p.D244N 1 0.438596491 ENSG00000149218 chr11:95128806-95128806;G/A missense_variant False ENDOD1@p.I346M 1 0.537313433 ENSG00000149218 chr11:95129114-95129114;T/G missense_variant False ENDOU@p.E308K 1 0.472222222 ENSG00000111405 chr12:47712566-47712566;C/T missense_variant False EMD@p.E80Q 1 0.157232704 ENSG00000102119 chrX:154379992-154379992;G/C missense_variant False EMCN@p.S233F 1 0.294117647 ENSG00000164035 chr4:100415951-100415951;G/A missense_variant False EMC9@p.E3K 1 0.25 ENSG00000100908 chr14:24141298-24141298;C/T missense_variant False ELK4@p.Q130E 1 0.25 ENSG00000158711 chr1:205620658-205620658;G/C missense_variant False ELL3@p.Y366N 1 0.391304348 ENSG00000128886 chr15:43773214-43773214;A/T missense_variant False ELL3@p.K229N 1 0.555555556 ENSG00000128886 chr15:43774732-43774732;C/G missense_variant False ELL3@p.G341V 1 0.073170732 ENSG00000128886 chr15:43774198-43774198;C/A missense_variant False ELL2@p.Q203_Y219del 1 0.331550802 ENSG00000118985 chr5:95906608-95906658;TAGGCCTTCAGGGCCAGTAAGTGAATCACCCTGTCCCTGTATGGCCTCTGA/- inframe_deletion False ELL2@p.P388T 1 0.442857143 ENSG00000118985 chr5:95898603-95898603;G/T missense_variant False ELK4@p.S217C 1 0.328767123 ENSG00000158711 chr1:205620396-205620396;G/C missense_variant False ELK4@p.M54I 1 0.072289157 ENSG00000158711 chr1:205623721-205623721;C/T missense_variant False ELF4@p.L80Ffs*5 1 0.541666667 ENSG00000102034 chrX:130074588-130074589;-/A frameshift_variant False ELK1@p.F10L 1 0.733333333 ENSG00000126767 chrX:47641414-47641414;A/G missense_variant False ELFN2@p.R598Q 1 0.558823529 ENSG00000243902 chr22:37373742-37373742;C/T missense_variant False ELFN2@p.I94M 1 0.355555556 ENSG00000243902 chr22:37375253-37375253;G/C missense_variant False ELFN2@p.G450S 1 0.412844037 ENSG00000243902 chr22:37374187-37374187;C/T missense_variant False ELFN2@p.D646V 1 0.3125 ENSG00000243902 chr22:37373598-37373598;T/A missense_variant False ELFN2@p.C150F 1 0.426966292 ENSG00000243902 chr22:37375086-37375086;C/A missense_variant False ELMO1@p.D106G 1 0.274509804 ENSG00000155849 chr7:37259277-37259277;T/C missense_variant False ELMO1@p.D725H 1 0.161538462 ENSG00000155849 chr7:36855562-36855562;C/G missense_variant False ELMO1@p.E558K 1 0.229508197 ENSG00000155849 chr7:36887602-36887602;C/T missense_variant False ELMO1@p.I69K 1 0.059602649 ENSG00000155849 chr7:37271869-37271869;A/T missense_variant False ELMO1@p.M309I 1 0.119565217 ENSG00000155849 chr7:37213362-37213362;C/T missense_variant False ELMO1@p.Q221R 1 0.301587302 ENSG00000155849 chr7:37224918-37224918;T/C missense_variant False ELMO1@p.Q283P 1 0.068965517 ENSG00000155849 chr7:37213441-37213441;T/G missense_variant False ELMO1@p.V163D 1 0.333333333 ENSG00000155849 chr7:37233156-37233156;A/T missense_variant False ELMO1@p.Y60H 1 0.469135802 ENSG00000155849 chr7:37314864-37314864;A/G missense_variant False ELMO2@p.A103D 1 0.110344828 ENSG00000062598 chr20:46389156-46389156;G/T missense_variant False ELMO2@p.E281K 1 0.08 ENSG00000062598 chr20:46375757-46375757;C/T missense_variant False ELMO2@p.E403G 1 0.597222222 ENSG00000062598 chr20:46374403-46374403;T/C missense_variant False ELMO2@p.E446Q 1 0.40625 ENSG00000062598 chr20:46373479-46373479;C/G missense_variant False ELMO2@p.E514K 1 0.219178082 ENSG00000062598 chr20:46371846-46371846;C/T missense_variant False ELMO3@p.D518N 1 0.286821705 ENSG00000102890 chr16:67202528-67202528;G/A missense_variant False ELMO3@p.E10K 1 0.166666667 ENSG00000102890 chr16:67199195-67199195;G/A missense_variant False ELMO3@p.E476Q 1 0.314285714 ENSG00000102890 chr16:67202402-67202402;G/C missense_variant False ELF4@p.Q582H 1 0.333333333 ENSG00000102034 chrX:130066967-130066967;C/A missense_variant False ELF4@p.G283A 1 0.865979381 ENSG00000102034 chrX:130069639-130069639;C/G missense_variant False ELMO3@p.L532V 1 0.285714286 ENSG00000102890 chr16:67202663-67202663;C/G missense_variant False ELF3@p.K265N 1 0.2 ENSG00000163435 chr1:202013288-202013288;G/C missense_variant False ELF3@p.Q151Pfs*10 1 0.260869565 ENSG00000163435 chr1:202012407-202012408;-/C frameshift_variant False ELF3@p.N46Qfs*46 1 0.245901639 ENSG00000163435 chr1:202011270-202011271;-/C frameshift_variant False ELF3@p.M293Nfs*8 1 0.214285714 ENSG00000163435 chr1:202013899-202013900;-/A frameshift_variant False ELF3@p.L51Gfs*39 1 0.289473684 ENSG00000163435 chr1:202011286-202011290;ATTGG/- frameshift_variant False ELF3@p.L329P 1 0.333333333 ENSG00000163435 chr1:202014009-202014009;T/C missense_variant False ELF3@p.K353N 1 0.373737374 ENSG00000163435 chr1:202015266-202015266;G/C missense_variant False ELF3@p.K255Ifs*44 1 0.507142857 ENSG00000163435 chr1:202013257-202013261;AAGAG/- frameshift_variant False ELF4@p.E160D 1 0.230263158 ENSG00000102034 chrX:130072278-130072278;C/G missense_variant False ELF3@p.K252N 1 0.722580645 ENSG00000163435 chr1:202013249-202013249;G/T missense_variant False ELF3@p.K241Sfs*13 1 0.1875 ENSG00000163435 chr1:202013211-202013211;C/- frameshift_variant False ELF3@p.I7Lfs*36 1 0.382978723 ENSG00000163435 chr1:202011154-202011154;G/- frameshift_variant False ELF3@p.G360V 1 0.170731707 ENSG00000163435 chr1:202015286-202015286;G/T missense_variant False ELF3@p.G347S 1 0.344262295 ENSG00000163435 chr1:202015246-202015246;G/A missense_variant False ELF3@p.F303L 1 0.323529412 ENSG00000163435 chr1:202013932-202013932;C/A missense_variant False ELF3@p.R247Q 1 0.448979592 ENSG00000163435 chr1:202013233-202013233;G/A missense_variant False ELF3@p.R298G 1 0.5 ENSG00000163435 chr1:202013915-202013915;C/G missense_variant False ELF3@p.R331W 1 0.576923077 ENSG00000163435 chr1:202014014-202014014;C/T missense_variant False ELF3@p.R348W 1 0.273972603 ENSG00000163435 chr1:202015249-202015249;C/T missense_variant False ELF3@p.R94G 1 0.077669903 ENSG00000163435 chr1:202012073-202012073;C/G missense_variant False ELF3@p.R94P 1 0.423728814 ENSG00000163435 chr1:202012074-202012074;G/C missense_variant False ELF3@p.R94Q 1 0.191176471 ENSG00000163435 chr1:202012074-202012074;G/A missense_variant False ELF3@p.S133* 1 0.443609023 ENSG00000163435 chr1:202012356-202012366;CTGATGAGCTC/- frameshift_variant False ELF3@p.S133F 1 0.160714286 ENSG00000163435 chr1:202012356-202012356;C/T missense_variant False ELF3@p.S204C 1 0.196428571 ENSG00000163435 chr1:202012959-202012959;C/G missense_variant False ELF3@p.S207Lfs*10 1 0.263157895 ENSG00000163435 chr1:202012965-202012966;-/C frameshift_variant False ELF3@p.S266Kfs*35 1 0.316831683 ENSG00000163435 chr1:202013288-202013289;-/A frameshift_variant False ELF3@p.V345Gfs*126 1 0.296875 ENSG00000163435 chr1:202015237-202015238;-/G frameshift_variant False ELF3@p.V351_Y352delinsD 1 0.581395349 ENSG00000163435 chr1:202015259-202015261;TCT/- inframe_deletion False ELF3@p.Y336F 1 0.472222222 ENSG00000163435 chr1:202015214-202015214;A/T missense_variant False ELF3@p.Y337C 1 0.981481481 ENSG00000163435 chr1:202015217-202015217;A/G missense_variant False ELF3@p.Y352C 1 0.621621622 ENSG00000163435 chr1:202015262-202015262;A/G missense_variant False ELMO3@p.F485L 1 0.333333333 ENSG00000102890 chr16:67202431-67202431;C/G missense_variant False ELMOD2@p.E86Q 1 0.21875 ENSG00000179387 chr4:140535817-140535817;G/C missense_variant False EMC8@p.L175M 1 0.125 ENSG00000131148 chr16:85779818-85779818;G/T missense_variant False ELP4@p.D323H 1 0.411347518 ENSG00000109911 chr11:31647777-31647777;G/C missense_variant False ELP5@p.D247N 1 0.45 ENSG00000170291 chr17:7258829-7258829;G/A missense_variant False ELP5@p.D240N 1 0.219178082 ENSG00000170291 chr17:7258666-7258666;G/A missense_variant False ELP4@p.R356Q 1 0.4375 ENSG00000109911 chr11:31650142-31650142;G/A missense_variant False ELP4@p.E335Q 1 0.078431373 ENSG00000109911 chr11:31647813-31647813;G/C missense_variant False ELP4@p.E144K 1 0.120689655 ENSG00000109911 chr11:31594818-31594818;G/A missense_variant False ELP4@p.E141K 1 0.194444444 ENSG00000109911 chr11:31594809-31594809;G/A missense_variant False ELP3@p.R98K 1 0.205607477 ENSG00000134014 chr8:28106747-28106747;G/A missense_variant False ELP1@p.H843N 1 0.185840708 ENSG00000070061 chr9:108897013-108897013;G/T missense_variant False ELP2@p.R220T 1 0.351351351 ENSG00000134759 chr18:36142829-36142829;G/C missense_variant False ELP2@p.Q198H 1 0.306122449 ENSG00000134759 chr18:36142286-36142286;G/C missense_variant False ELP2@p.G438E 1 0.515625 ENSG00000134759 chr18:36156503-36156503;G/A missense_variant False ELP2@p.D490Y 1 0.20754717 ENSG00000134759 chr18:36158838-36158838;G/T missense_variant False ELP1@p.S587Y 1 0.170212766 ENSG00000070061 chr9:108902933-108902933;G/T missense_variant False ELP1@p.Q22E 1 0.24 ENSG00000070061 chr9:108931083-108931083;G/C missense_variant False ELP5@p.E262Q 1 0.43902439 ENSG00000170291 chr17:7258874-7258874;G/C missense_variant False ELP5@p.E65Q 1 0.083333333 ENSG00000170291 chr17:7252955-7252955;G/C missense_variant False ELP6@p.D187H 1 0.5 ENSG00000163832 chr3:47498399-47498399;C/G missense_variant False ELSPBP1@p.G122R 1 0.166666667 ENSG00000169393 chr19:48019727-48019727;G/A missense_variant False ELSPBP1@p.K191N 1 0.369047619 ENSG00000169393 chr19:48022228-48022228;G/C missense_variant False EMB@p.E229K 1 0.191780822 ENSG00000170571 chr5:50403370-50403370;C/T missense_variant False EMB@p.Q286P 1 0.051724138 ENSG00000170571 chr5:50403198-50403198;T/G missense_variant False EMB@p.R318K 1 0.12962963 ENSG00000170571 chr5:50399872-50399872;C/T missense_variant False EMC10@p.S91N 1 0.375 ENSG00000161671 chr19:50479041-50479041;G/A missense_variant False EMC1@p.E232K 1 0.097222222 ENSG00000127463 chr1:19240389-19240389;C/T missense_variant False EMC1@p.E549Q 1 0.238636364 ENSG00000127463 chr1:19232761-19232761;C/G missense_variant False EMC1@p.L871Ffs*25 1 0.25974026 ENSG00000127463 chr1:19220825-19220825;G/- frameshift_variant False EMC3@p.D9N 1 0.313043478 ENSG00000125037 chr3:9986637-9986637;C/T missense_variant False EMC3@p.R57Q 1 0.173913043 ENSG00000125037 chr3:9977432-9977432;C/T missense_variant False EMC7@p.L171V 1 0.214285714 ENSG00000134153 chr15:34088118-34088118;G/C missense_variant False EMC7@p.S142C 1 0.939393939 ENSG00000134153 chr15:34090387-34090387;G/C missense_variant False EMC7@p.S18L 1 0.276223776 ENSG00000134153 chr15:34101787-34101787;G/A missense_variant False ELP1@p.P600S 1 0.450980392 ENSG00000070061 chr9:108902895-108902895;G/A missense_variant False ELP1@p.G172E 1 0.397849462 ENSG00000070061 chr9:108922879-108922879;C/T missense_variant False ELMOD2@p.R167T 1 0.215686275 ENSG00000179387 chr4:140540268-140540268;G/C missense_variant False ELN@p.P487S 1 0.406015038 ENSG00000049540 chr7:74059930-74059930;C/T missense_variant False ELOA2@p.S363T 1 0.080645161 ENSG00000206181 chr18:47034178-47034178;A/T missense_variant False ELOA2@p.S311I 1 0.154185022 ENSG00000206181 chr18:47034333-47034333;C/A missense_variant False ELOA2@p.L544F 1 0.211538462 ENSG00000206181 chr18:47033635-47033635;G/A missense_variant False ELOA2@p.D582H 1 0.101123596 ENSG00000206181 chr18:47033521-47033521;C/G missense_variant False ELOA2@p.D565N 1 0.34 ENSG00000206181 chr18:47033572-47033572;C/T missense_variant False ELOA2@p.A501S 1 0.097826087 ENSG00000206181 chr18:47033764-47033764;C/A missense_variant False ELN@p.P44S 1 0.111111111 ENSG00000049540 chr7:74035411-74035411;C/T missense_variant False ELP1@p.E1058Q 1 0.385542169 ENSG00000070061 chr9:108889382-108889382;C/G missense_variant False ELN@p.G554E 1 0.392857143 ENSG00000049540 chr7:74060415-74060415;G/A missense_variant False ELN@p.G496R 1 0.143678161 ENSG00000049540 chr7:74059957-74059957;G/C missense_variant False ELN@p.A713V 1 0.435483871 ENSG00000049540 chr7:74065950-74065950;C/T missense_variant False ELMOD3@p.F287L 1 0.090909091 ENSG00000115459 chr2:85390183-85390183;C/G missense_variant False ELMOD3@p.E88K 1 0.125 ENSG00000115459 chr2:85368748-85368748;G/A missense_variant False ELMOD3@p.E267K 1 0.444444444 ENSG00000115459 chr2:85389811-85389811;G/A missense_variant False ELOA2@p.S365C 1 0.434210526 ENSG00000206181 chr18:47034171-47034171;G/C missense_variant False ELOA2@p.S95Y 1 0.23655914 ENSG00000206181 chr18:47034981-47034981;G/T missense_variant False ELOA2@p.Y515H 1 0.486486486 ENSG00000206181 chr18:47033722-47033722;A/G missense_variant False ELOA@p.D613H 1 0.083333333 ENSG00000011007 chr1:23754428-23754428;G/C missense_variant False ELOA@p.S232L 1 0.078125 ENSG00000011007 chr1:23751222-23751222;C/T missense_variant False ELOA@p.S273C 1 0.117647059 ENSG00000011007 chr1:23751345-23751345;C/G missense_variant False ELOVL1@p.E10K 1 0.180327869 ENSG00000066322 chr1:43365582-43365582;C/T missense_variant False ELOVL1@p.S213L 1 0.487804878 ENSG00000066322 chr1:43364118-43364118;G/A missense_variant False ELOVL2@p.Y55H 1 0.2 ENSG00000197977 chr6:11005464-11005464;A/G missense_variant False ELOVL5@p.K13N 1 0.1875 ENSG00000012660 chr6:53295661-53295661;C/G missense_variant False ELOVL6@p.M258I 1 0.202380952 ENSG00000170522 chr4:110051362-110051362;C/T missense_variant False ELOVL6@p.V173L 1 0.370967742 ENSG00000170522 chr4:110051619-110051619;C/A missense_variant False ELOVL7@p.E63K 1 0.125 ENSG00000164181 chr5:60771971-60771971;C/T missense_variant False ELOVL7@p.K65N 1 0.176470588 ENSG00000164181 chr5:60771963-60771963;C/G missense_variant False ELOVL7@p.P236T 1 0.166666667 ENSG00000164181 chr5:60754764-60754764;G/T missense_variant False ELOVL7@p.V135Cfs*7 1 0.205882353 ENSG00000164181 chr5:60764323-60764324;-/A frameshift_variant False ELP1@p.D901H 1 0.777777778 ENSG00000070061 chr9:108896531-108896531;C/G missense_variant False EHMT2@p.V726L 1 0.424657534 ENSG00000204371 chr6:31886840-31886840;C/A missense_variant False EHMT2@p.S246L 1 0.20754717 ENSG00000204371 chr6:31892534-31892534;G/A missense_variant False ENPP1@p.S876L 1 0.685185185 ENSG00000197594 chr6:131890360-131890360;C/T missense_variant False ECT2@p.R307T 1 0.489130435 ENSG00000114346 chr3:172762721-172762721;G/C missense_variant False ECT2L@p.Q411E 1 0.12195122 ENSG00000203734 chr6:138862659-138862659;C/G missense_variant False ECT2L@p.P13A 1 0.131578947 ENSG00000203734 chr6:138813311-138813311;C/G missense_variant False ECT2L@p.L328F 1 0.475 ENSG00000203734 chr6:138849347-138849347;C/T missense_variant False ECT2L@p.A740T 1 0.313253012 ENSG00000203734 chr6:138885789-138885789;G/A missense_variant False ECT2@p.R52Sfs*21 1 0.098039216 ENSG00000114346 chr3:172755317-172755318;AA/- frameshift_variant False ECT2@p.R380Q 1 0.515789474 ENSG00000114346 chr3:172764348-172764348;G/A missense_variant False ECT2@p.E355K 1 0.472527473 ENSG00000114346 chr3:172762967-172762967;G/A missense_variant False EDA2R@p.K109M 1 0.358208955 ENSG00000131080 chrX:66604447-66604447;T/A missense_variant False ECT2@p.E314G 1 0.534883721 ENSG00000114346 chr3:172762742-172762742;A/G missense_variant False ECSIT@p.R156W 1 0.168674699 ENSG00000130159 chr19:11513852-11513852;G/A missense_variant False ECSIT@p.E352V 1 0.504950495 ENSG00000130159 chr19:11506425-11506425;T/A missense_variant False ECSIT@p.D125E 1 0.111111111 ENSG00000130159 chr19:11513943-11513943;G/C missense_variant False ECPAS@p.S151L 1 0.5 ENSG00000136813 chr9:111440459-111440459;G/A missense_variant False ECPAS@p.R1123S 1 0.414634146 ENSG00000136813 chr9:111389636-111389636;G/T missense_variant False ECT2L@p.S602L 1 0.386363636 ENSG00000203734 chr6:138881096-138881096;C/T missense_variant False EDA@p.F138L 1 0.944444444 ENSG00000158813 chrX:69957044-69957044;C/A missense_variant False EEF1A1@p.N153S 1 0.287671233 ENSG00000156508 chr6:73519095-73519095;T/C missense_variant False EDC3@p.S394F 1 0.544117647 ENSG00000179151 chr15:74635420-74635420;G/A missense_variant False EDC4@p.G794R 1 0.117021277 ENSG00000038358 chr16:67880839-67880839;G/A missense_variant False EDC4@p.F453L 1 0.192307692 ENSG00000038358 chr16:67879028-67879028;C/A missense_variant False EDC4@p.E995Q 1 0.25170068 ENSG00000038358 chr16:67881824-67881824;G/C missense_variant False EDC4@p.E877Q 1 0.069767442 ENSG00000038358 chr16:67881173-67881173;G/C missense_variant False EDC4@p.E812K 1 0.238095238 ENSG00000038358 chr16:67880893-67880893;G/A missense_variant False EDC4@p.E1040Q 1 0.346153846 ENSG00000038358 chr16:67882067-67882067;G/C missense_variant False EDC3@p.D122A 1 0.053892216 ENSG00000179151 chr15:74671574-74671574;T/G missense_variant False EDA@p.G291A 1 0.489361702 ENSG00000158813 chrX:70033476-70033476;G/C missense_variant False EDAR@p.R400C 1 0.368421053 ENSG00000135960 chr2:108897056-108897056;G/A missense_variant False EDAR@p.D293N 1 0.25210084 ENSG00000135960 chr2:108907946-108907946;C/T missense_variant False EDAR@p.D110N 1 0.510638298 ENSG00000135960 chr2:108929226-108929226;C/T missense_variant False EDA@p.S81L 1 0.266666667 ENSG00000158813 chrX:69616550-69616550;C/T missense_variant False EDA@p.S125C 1 0.380952381 ENSG00000158813 chrX:69616682-69616682;C/G missense_variant False EDA@p.R276H 1 0.271604938 ENSG00000158813 chrX:70033431-70033431;G/A missense_variant False ECPAS@p.Q1159Kfs*20 1 0.271428571 ENSG00000136813 chr9:111386429-111386429;G/- frameshift_variant False ECPAS@p.N60K 1 0.203703704 ENSG00000136813 chr9:111444468-111444468;A/C missense_variant False ECPAS@p.L1070R 1 0.466666667 ENSG00000136813 chr9:111390054-111390054;A/C missense_variant False ECI2@p.D201N 1 0.176470588 ENSG00000198721 chr6:4126208-4126208;C/T missense_variant False ECI2@p.S377L 1 0.74 ENSG00000198721 chr6:4115929-4115929;G/A missense_variant False ECI2@p.R33K 1 0.59375 ENSG00000198721 chr6:4133664-4133664;C/T missense_variant False ECI2@p.N220H 1 0.392156863 ENSG00000198721 chr6:4126151-4126151;T/G missense_variant False ECI2@p.L254P 1 0.330434783 ENSG00000198721 chr6:4125284-4125284;A/G missense_variant False ECI2@p.G373E 1 0.075757576 ENSG00000198721 chr6:4115941-4115941;C/T missense_variant False ECI2@p.D86H 1 0.093220339 ENSG00000198721 chr6:4130823-4130823;C/G missense_variant False ECHS1@p.E249K 1 0.078947368 ENSG00000127884 chr10:133364720-133364720;C/T missense_variant False ECPAS@p.G100C 1 0.304347826 ENSG00000136813 chr9:111442397-111442397;C/A missense_variant False ECHS1@p.E190Q 1 0.347826087 ENSG00000127884 chr10:133366940-133366940;C/G missense_variant False ECHDC3@p.S77Y 1 0.221238938 ENSG00000134463 chr10:11747408-11747408;C/A missense_variant False ECHDC3@p.R196T 1 0.5 ENSG00000134463 chr10:11755604-11755604;G/C missense_variant False ECHDC3@p.Q79P 1 0.184615385 ENSG00000134463 chr10:11747414-11747414;A/C missense_variant False ECHDC3@p.F255L 1 0.12987013 ENSG00000134463 chr10:11763397-11763397;C/G missense_variant False ECHDC2@p.R15W 1 0.416666667 ENSG00000121310 chr1:52921631-52921631;G/A missense_variant False ECI2@p.W8C 1 0.454545455 ENSG00000198721 chr6:4135537-4135537;C/G missense_variant False ECM1@p.E515K 1 0.104477612 ENSG00000143369 chr1:150513387-150513387;G/A missense_variant False ECM1@p.N404S 1 0.378787879 ENSG00000143369 chr1:150512479-150512479;A/G missense_variant False ECM1@p.R398H 1 0.180451128 ENSG00000143369 chr1:150512461-150512461;G/A missense_variant False ECM1@p.R399W 1 0.169014085 ENSG00000143369 chr1:150512463-150512463;C/T missense_variant False ECM1@p.R416P 1 0.112903226 ENSG00000143369 chr1:150512515-150512515;G/C missense_variant False ECM2@p.G129R 1 0.426666667 ENSG00000106823 chr9:92517783-92517783;C/T missense_variant False ECM2@p.L165V 1 0.25 ENSG00000106823 chr9:92515192-92515192;G/C missense_variant False ECM2@p.Q16E 1 0.55 ENSG00000106823 chr9:92522821-92522821;G/C missense_variant False ECM2@p.Q252H 1 0.054421769 ENSG00000106823 chr9:92514929-92514929;C/G missense_variant False ECM2@p.R130T 1 0.3 ENSG00000106823 chr9:92517779-92517779;C/G missense_variant False ECM2@p.S302C 1 0.837209302 ENSG00000106823 chr9:92514780-92514780;G/C missense_variant False ECM2@p.S622C 1 0.081081081 ENSG00000106823 chr9:92500793-92500793;G/C missense_variant False ECM2@p.T224A 1 0.4 ENSG00000106823 chr9:92515015-92515015;T/C missense_variant False ECPAS@p.D265N 1 0.327272727 ENSG00000136813 chr9:111433288-111433288;C/T missense_variant False ECPAS@p.D275N 1 0.191304348 ENSG00000136813 chr9:111433258-111433258;C/T missense_variant False ECPAS@p.D354A 1 0.146067416 ENSG00000136813 chr9:111425818-111425818;T/G missense_variant False EDC4@p.M934I 1 0.236842105 ENSG00000038358 chr16:67881509-67881509;G/A missense_variant False EDC4@p.P697L 1 0.137254902 ENSG00000038358 chr16:67880209-67880209;C/T missense_variant False EDC4@p.Q1022H 1 0.52173913 ENSG00000038358 chr16:67882015-67882015;G/C missense_variant False EDRF1@p.D532N 1 0.3 ENSG00000107938 chr10:125735740-125735740;G/A missense_variant False EDRF1@p.K1179N 1 0.083333333 ENSG00000107938 chr10:125753837-125753837;G/C missense_variant False EDRF1@p.G217V 1 0.236363636 ENSG00000107938 chr10:125725696-125725696;G/T missense_variant False EDRF1@p.E894Q 1 0.196078431 ENSG00000107938 chr10:125745796-125745796;G/C missense_variant False EDRF1@p.E648K 1 0.210526316 ENSG00000107938 chr10:125738406-125738406;G/A missense_variant False EDRF1@p.E197Q 1 0.303030303 ENSG00000107938 chr10:125725396-125725396;G/C missense_variant False EDRF1@p.D801V 1 0.163265306 ENSG00000107938 chr10:125743088-125743088;A/T missense_variant False EDNRB@p.V242I 1 0.315068493 ENSG00000136160 chr13:77918120-77918120;C/T missense_variant False EDNRA@p.W11L 1 0.134831461 ENSG00000151617 chr4:147485713-147485713;G/T missense_variant False EDNRB@p.T353I 1 0.146551724 ENSG00000136160 chr13:77903169-77903169;G/A missense_variant False EDNRB@p.R482T 1 0.528089888 ENSG00000136160 chr13:77899878-77899878;C/G missense_variant False EDNRB@p.Q398H 1 0.461538462 ENSG00000136160 chr13:77901085-77901085;C/G missense_variant False EDNRB@p.P179Rfs*35 1 0.389473684 ENSG00000136160 chr13:77918308-77918308;G/- frameshift_variant False EDNRB@p.L97M 1 0.166666667 ENSG00000136160 chr13:77918555-77918555;G/T missense_variant False EDNRB@p.K141N 1 0.162162162 ENSG00000136160 chr13:77918421-77918421;C/G missense_variant False EDRF1@p.Q757H 1 0.3 ENSG00000107938 chr10:125741101-125741101;G/C missense_variant False EDRF1@p.Y696C 1 0.47706422 ENSG00000107938 chr10:125740568-125740568;A/G missense_variant False EEA1@p.D738N 1 0.226190476 ENSG00000102189 chr12:92809144-92809144;C/T missense_variant False EEA1@p.E1189Q 1 0.255319149 ENSG00000102189 chr12:92779204-92779204;C/G missense_variant False EEA1@p.E190K 1 0.13592233 ENSG00000102189 chr12:92852249-92852249;C/T missense_variant False EEA1@p.E254K 1 0.152542373 ENSG00000102189 chr12:92851149-92851149;C/T missense_variant False EEA1@p.E394D 1 0.041237113 ENSG00000102189 chr12:92832584-92832584;C/G missense_variant False EEA1@p.I1380M 1 0.228571429 ENSG00000102189 chr12:92776107-92776107;G/C missense_variant False EEA1@p.K552T 1 0.436619718 ENSG00000102189 chr12:92819381-92819381;T/G missense_variant False EEA1@p.R441K 1 0.258064516 ENSG00000102189 chr12:92827994-92827994;C/T missense_variant False EEA1@p.S134L 1 0.209302326 ENSG00000102189 chr12:92853920-92853920;G/A missense_variant False EEA1@p.V455A 1 0.25862069 ENSG00000102189 chr12:92827952-92827952;A/G missense_variant False EED@p.L260F 1 0.358024691 ENSG00000074266 chr11:86266134-86266134;C/T missense_variant False EED@p.M270I 1 0.131313131 ENSG00000074266 chr11:86266166-86266166;G/C missense_variant False EED@p.M271L 1 0.128712871 ENSG00000074266 chr11:86266167-86266167;A/T missense_variant False EED@p.R441P 1 0.2 ENSG00000074266 chr11:86278521-86278521;G/C missense_variant False EEF1A1@p.D91N 1 0.41322314 ENSG00000156508 chr6:73519390-73519390;C/T missense_variant False EDNRB@p.E185Q 1 0.243589744 ENSG00000136160 chr13:77918291-77918291;C/G missense_variant False EDNRA@p.T39N 1 0.385321101 ENSG00000151617 chr4:147485797-147485797;C/A missense_variant False EDC4@p.R1332P 1 0.153846154 ENSG00000038358 chr16:67883713-67883713;G/C missense_variant False EDEM1@p.S236F 1 0.201438849 ENSG00000134109 chr3:5201773-5201773;C/T missense_variant False EDEM3@p.E634K 1 0.303030303 ENSG00000116406 chr1:184708290-184708290;C/T missense_variant False EDEM3@p.D520N 1 0.212765957 ENSG00000116406 chr1:184711856-184711856;C/T missense_variant False EDEM2@p.R159Q 1 0.465116279 ENSG00000088298 chr20:35137894-35137894;C/T missense_variant False EDEM2@p.Q18E 1 0.125 ENSG00000088298 chr20:35147207-35147207;G/C missense_variant False EDEM2@p.L222F 1 0.055 ENSG00000088298 chr20:35134774-35134774;C/G missense_variant False EDEM2@p.G267R 1 0.318777293 ENSG00000088298 chr20:35131687-35131687;C/T missense_variant False EDEM1@p.S199L 1 0.5 ENSG00000134109 chr3:5199605-5199605;C/T missense_variant False EDNRA@p.L317V 1 0.272727273 ENSG00000151617 chr4:147539865-147539865;C/G missense_variant False EDEM1@p.F509L 1 0.387096774 ENSG00000134109 chr3:5210192-5210192;C/G missense_variant False EDEM1@p.F442L 1 0.454545455 ENSG00000134109 chr3:5207261-5207261;C/A missense_variant False EDEM1@p.A147T 1 0.5 ENSG00000134109 chr3:5188244-5188244;G/A missense_variant False EDDM3B@p.Y70C 1 0.159292035 ENSG00000181552 chr14:20770359-20770359;A/G missense_variant False EDDM3B@p.R31I 1 0.492537313 ENSG00000181552 chr14:20770242-20770242;G/T missense_variant False EDDM3B@p.G131R 1 0.291666667 ENSG00000181552 chr14:20770541-20770541;G/A missense_variant False EDEM3@p.E803K 1 0.217391304 ENSG00000116406 chr1:184694455-184694455;C/T missense_variant False EDEM3@p.F393L 1 0.269230769 ENSG00000116406 chr1:184717606-184717606;G/C missense_variant False EDEM3@p.H372D 1 0.161538462 ENSG00000116406 chr1:184719209-184719209;G/C missense_variant False EDEM3@p.I211M 1 0.235772358 ENSG00000116406 chr1:184726369-184726369;G/C missense_variant False EDEM3@p.S790C 1 0.266666667 ENSG00000116406 chr1:184702831-184702831;G/C missense_variant False EDIL3@p.D398H 1 0.483870968 ENSG00000164176 chr5:83963306-83963306;C/G missense_variant False EDIL3@p.E93K 1 0.346153846 ENSG00000164176 chr5:84180471-84180471;C/T missense_variant False EDIL3@p.G264A 1 0.3125 ENSG00000164176 chr5:84066467-84066467;C/G missense_variant False EDIL3@p.I169V 1 0.56122449 ENSG00000164176 chr5:84106795-84106795;T/C missense_variant False EDIL3@p.P80Lfs*12 1 0.5 ENSG00000164176 chr5:84180509-84180509;G/- frameshift_variant False EDIL3@p.R457K 1 0.210526316 ENSG00000164176 chr5:83943492-83943492;C/T missense_variant False EDIL3@p.T227P 1 0.146666667 ENSG00000164176 chr5:84066579-84066579;T/G missense_variant False EDN1@p.R167S 1 0.394736842 ENSG00000078401 chr6:12294372-12294372;A/T missense_variant False EDN2@p.A118T 1 0.235294118 ENSG00000127129 chr1:41481186-41481186;C/T missense_variant False EDN2@p.H38Y 1 0.333333333 ENSG00000127129 chr1:41484156-41484156;G/A missense_variant False EDN3@p.P37R 1 0.377777778 ENSG00000124205 chr20:59301467-59301467;C/G missense_variant False EDN3@p.S25C 1 0.609195402 ENSG00000124205 chr20:59301431-59301431;C/G missense_variant False ECHDC1@p.Q26E 1 0.105263158 ENSG00000093144 chr6:127330971-127330971;G/C missense_variant False ECHDC1@p.I189V 1 0.099009901 ENSG00000093144 chr6:127290228-127290228;T/C missense_variant False ECHDC1@p.G194D 1 0.109589041 ENSG00000093144 chr6:127290212-127290212;C/T missense_variant False DZIP1@p.E146K 1 0.230769231 ENSG00000134874 chr13:95641456-95641456;C/T missense_variant False DZIP1@p.K805Q 1 0.413333333 ENSG00000134874 chr13:95584847-95584847;T/G missense_variant False DZIP1@p.H382Y 1 0.216783217 ENSG00000134874 chr13:95619914-95619914;G/A missense_variant False DZIP1@p.H153R 1 0.161290323 ENSG00000134874 chr13:95641434-95641434;T/C missense_variant False DZIP1@p.F413Vfs*3 1 0.39 ENSG00000134874 chr13:95612114-95612115;-/C frameshift_variant False DZIP1@p.E751K 1 0.275 ENSG00000134874 chr13:95586104-95586104;C/T missense_variant False DZIP1@p.E291G 1 0.416666667 ENSG00000134874 chr13:95624868-95624868;T/C missense_variant False DZIP1@p.D287H 1 0.19047619 ENSG00000134874 chr13:95624881-95624881;C/G missense_variant False DYSF@p.V641A 1 0.424242424 ENSG00000135636 chr2:71553180-71553180;T/C missense_variant False DZANK1@p.S567C 1 0.392857143 ENSG00000089091 chr20:18394262-18394262;G/C missense_variant False DZANK1@p.E255K 1 0.205128205 ENSG00000089091 chr20:18433750-18433750;C/T missense_variant False DZANK1@p.D76N 1 0.526315789 ENSG00000089091 chr20:18460190-18460190;C/T missense_variant False DYTN@p.R353L 1 0.181818182 ENSG00000232125 chr2:206665952-206665952;C/A missense_variant False DYTN@p.L90V 1 0.142857143 ENSG00000232125 chr2:206707330-206707330;G/C missense_variant False DYTN@p.L361H 1 0.105263158 ENSG00000232125 chr2:206665928-206665928;A/T missense_variant False DZIP1@p.L117V 1 0.209876543 ENSG00000134874 chr13:95641543-95641543;G/C missense_variant False DZIP1@p.P470S 1 0.695652174 ENSG00000134874 chr13:95609469-95609469;G/A missense_variant False DZIP1@p.P700R 1 0.373333333 ENSG00000134874 chr13:95587658-95587658;G/C missense_variant False DZIP1L@p.E328K 1 0.204545455 ENSG00000158163 chr3:138088396-138088396;C/T missense_variant False DZIP1L@p.Q155H 1 0.301886792 ENSG00000158163 chr3:138103507-138103507;C/G missense_variant False DZIP1L@p.S434P 1 0.216216216 ENSG00000158163 chr3:138077621-138077621;A/G missense_variant False DZIP1L@p.S582F 1 0.266666667 ENSG00000158163 chr3:138068238-138068238;G/A missense_variant False DZIP3@p.A415T 1 0.457831325 ENSG00000198919 chr3:108644265-108644265;G/A missense_variant False DZIP3@p.D226N 1 0.3125 ENSG00000198919 chr3:108629156-108629156;G/A missense_variant False DZIP3@p.E147K 1 0.265306122 ENSG00000198919 chr3:108624507-108624507;G/A missense_variant False DZIP3@p.E515D 1 0.056768559 ENSG00000198919 chr3:108644567-108644567;G/T missense_variant False DZIP3@p.G320S 1 0.204188482 ENSG00000198919 chr3:108636655-108636655;G/A missense_variant False DZIP3@p.H1106Y 1 0.303571429 ENSG00000198919 chr3:108688638-108688638;C/T missense_variant False DZIP3@p.S735L 1 0.272727273 ENSG00000198919 chr3:108661881-108661881;C/T missense_variant False DZIP3@p.S994F 1 0.185810811 ENSG00000198919 chr3:108684313-108684313;C/T missense_variant False DZIP3@p.V323A 1 0.169960474 ENSG00000198919 chr3:108636665-108636665;T/C missense_variant False E2F1@p.G363R 1 0.24137931 ENSG00000101412 chr20:33676959-33676959;C/G missense_variant False DYSF@p.W930C 1 0.322738386 ENSG00000135636 chr2:71568318-71568318;G/T missense_variant False DYSF@p.V475M 1 0.413043478 ENSG00000135636 chr2:71539182-71539182;G/A missense_variant False E2F2@p.N189D 1 0.106557377 ENSG00000007968 chr1:23521850-23521850;T/C missense_variant False DYRK2@p.R494T 1 0.07751938 ENSG00000127334 chr12:67658388-67658388;G/C missense_variant False DYRK3@p.T34Lfs*6 1 0.142857143 ENSG00000143479 chr1:206637670-206637671;AC/- frameshift_variant False DYRK3@p.S508C 1 0.118181818 ENSG00000143479 chr1:206648721-206648721;C/G missense_variant False DYRK3@p.G467Vfs*21 1 0.155339806 ENSG00000143479 chr1:206648593-206648593;G/- frameshift_variant False DYRK3@p.E379Q 1 0.152173913 ENSG00000143479 chr1:206648333-206648333;G/C missense_variant False DYRK3@p.E339Q 1 0.150943396 ENSG00000143479 chr1:206648213-206648213;G/C missense_variant False DYRK3@p.D294N 1 0.298387097 ENSG00000143479 chr1:206648078-206648078;G/A missense_variant False DYRK2@p.E517Q 1 0.197183099 ENSG00000127334 chr12:67658456-67658456;G/C missense_variant False DYSF@p.S732C 1 0.228070175 ENSG00000135636 chr2:71561784-71561784;C/G missense_variant False DYRK1B@p.S263F 1 0.275862069 ENSG00000105204 chr19:39828316-39828316;G/A missense_variant False DYRK1B@p.F260L 1 0.153846154 ENSG00000105204 chr19:39828324-39828324;G/C missense_variant False DYRK1B@p.E327Q 1 0.161764706 ENSG00000105204 chr19:39827401-39827401;C/G missense_variant False DYRK1A@p.Y720Lfs*6 1 0.386363636 ENSG00000157540 chr21:37512396-37512397;-/T frameshift_variant False DYRK1A@p.S494C 1 0.221153846 ENSG00000157540 chr21:37505524-37505524;C/G missense_variant False DYRK1A@p.R629K 1 0.447368421 ENSG00000157540 chr21:37512125-37512125;G/A missense_variant False DYRK4@p.A61V 1 0.218978102 ENSG00000010219 chr12:4593065-4593065;C/T missense_variant False DYRK4@p.K241Rfs*35 1 0.333333333 ENSG00000010219 chr12:4599726-4599726;A/- frameshift_variant False DYRK4@p.Q402K 1 0.264423077 ENSG00000010219 chr12:4612601-4612601;C/A missense_variant False DYRK4@p.S9L 1 0.355932203 ENSG00000010219 chr12:4591206-4591206;C/T missense_variant False DYRK4@p.V460A 1 0.103773585 ENSG00000010219 chr12:4613569-4613569;T/C missense_variant False DYSF@p.A1572T 1 0.175257732 ENSG00000135636 chr2:71658953-71658953;G/A missense_variant False DYSF@p.E1537Q 1 0.225352113 ENSG00000135636 chr2:71656261-71656261;G/C missense_variant False DYSF@p.E1667Q 1 0.321428571 ENSG00000135636 chr2:71664380-71664380;G/C missense_variant False DYSF@p.F1075L 1 0.186206897 ENSG00000135636 chr2:71574246-71574246;T/C missense_variant False DYSF@p.G306Afs*32 1 0.225433526 ENSG00000135636 chr2:71520186-71520186;G/- frameshift_variant False DYSF@p.G845S 1 0.145454545 ENSG00000135636 chr2:71567972-71567972;G/A missense_variant False DYSF@p.K910N 1 0.153333333 ENSG00000135636 chr2:71568258-71568258;G/T missense_variant False DYSF@p.Q851H 1 0.452830189 ENSG00000135636 chr2:71567992-71567992;G/T missense_variant False DYSF@p.Q869R 1 0.197368421 ENSG00000135636 chr2:71568045-71568045;A/G missense_variant False DYSF@p.R1093C 1 0.086330935 ENSG00000135636 chr2:71574300-71574300;C/T missense_variant False DYSF@p.R1693Q 1 0.185810811 ENSG00000135636 chr2:71665182-71665182;G/A missense_variant False DYSF@p.S503L 1 0.87755102 ENSG00000135636 chr2:71549377-71549377;C/T missense_variant False E2F2@p.L162Rfs*32 1 0.215189873 ENSG00000007968 chr1:23521930-23521930;A/- frameshift_variant False E2F4@p.L193V 1 0.523076923 ENSG00000205250 chr16:67194749-67194749;C/G missense_variant False ECH1@p.Y281H 1 0.457142857 ENSG00000104823 chr19:38815898-38815898;A/G missense_variant False EBAG9@p.Y94C 1 0.0781893 ENSG00000147654 chr8:109554847-109554847;A/G missense_variant False EBF2@p.V436Sfs*44 1 0.388429752 ENSG00000221818 chr8:25861085-25861085;C/- frameshift_variant False EBF2@p.L392F 1 0.157894737 ENSG00000221818 chr8:25861215-25861215;C/G missense_variant False EBF1@p.R311S 1 0.777777778 ENSG00000164330 chr5:158777518-158777518;G/T missense_variant False EBF1@p.P476S 1 0.409090909 ENSG00000164330 chr5:158712277-158712277;G/A missense_variant False EBF1@p.P472L 1 0.555555556 ENSG00000164330 chr5:158712288-158712288;G/A missense_variant False EBF1@p.A404E 1 0.37704918 ENSG00000164330 chr5:158713128-158713128;G/T missense_variant False EBAG9@p.E145K 1 0.35483871 ENSG00000147654 chr8:109560841-109560841;G/A missense_variant False EAF2@p.R28C 1 0.12 ENSG00000145088 chr3:121835367-121835367;C/T missense_variant False EARS2@p.R38P 1 0.142857143 ENSG00000103356 chr16:23557231-23557231;C/G missense_variant False EARS2@p.E353K 1 0.223880597 ENSG00000103356 chr16:23532667-23532667;C/T missense_variant False EAPP@p.R146K 1 0.55952381 ENSG00000129518 chr14:34529391-34529391;C/T missense_variant False EAPP@p.F107I 1 0.363636364 ENSG00000129518 chr14:34533477-34533477;A/T missense_variant False EAPP@p.E244Q 1 0.081395349 ENSG00000129518 chr14:34516438-34516438;C/G missense_variant False EAPP@p.E14K 1 0.2 ENSG00000129518 chr14:34539589-34539589;C/T missense_variant False EBF3@p.K200N 1 0.435897436 ENSG00000108001 chr10:129877804-129877804;C/A missense_variant False EBF3@p.L112V 1 0.24 ENSG00000108001 chr10:129962963-129962963;G/C missense_variant False EBF3@p.M134I 1 0.320754717 ENSG00000108001 chr10:129962180-129962180;C/T missense_variant False EBF3@p.T451M 1 0.24 ENSG00000108001 chr10:129842136-129842136;G/A missense_variant False EBI3@p.E213Nfs*2 1 0.173076923 ENSG00000105246 chr19:4237032-4237032;G/- frameshift_variant False EBNA1BP2@p.K286N 1 0.611111111 ENSG00000117395 chr1:43164655-43164655;C/G missense_variant False EBNA1BP2@p.Q89E 1 0.155963303 ENSG00000117395 chr1:43171537-43171537;G/C missense_variant False ECD@p.E435Q 1 0.054347826 ENSG00000122882 chr10:73139427-73139427;C/G missense_variant False ECD@p.I481M 1 0.189189189 ENSG00000122882 chr10:73138049-73138049;G/C missense_variant False ECE1@p.E311Q 1 0.849056604 ENSG00000117298 chr1:21256036-21256036;C/G missense_variant False ECE1@p.E725K 1 0.171052632 ENSG00000117298 chr1:21220095-21220095;C/T missense_variant False ECE1@p.S150N 1 0.106382979 ENSG00000117298 chr1:21272743-21272743;C/T missense_variant False ECEL1@p.E203K 1 0.3125 ENSG00000171551 chr2:232486047-232486047;C/T missense_variant False ECH1@p.A100T 1 0.28 ENSG00000104823 chr19:38831129-38831129;C/T missense_variant False ECH1@p.G111A 1 0.23255814 ENSG00000104823 chr19:38831095-38831095;C/G missense_variant False ECH1@p.M81I 1 0.044554455 ENSG00000104823 chr19:38831326-38831326;C/A missense_variant False ECH1@p.R32C 1 0.242424242 ENSG00000104823 chr19:38831475-38831475;G/A missense_variant False EAF2@p.S182C 1 0.255319149 ENSG00000145088 chr3:121872597-121872597;C/G missense_variant False EAF2@p.L17F 1 0.078947368 ENSG00000145088 chr3:121835334-121835334;C/T missense_variant False E2F4@p.V410L 1 0.093023256 ENSG00000205250 chr16:67198109-67198109;G/C missense_variant False E2F7@p.E871K 1 0.148148148 ENSG00000165891 chr12:77024140-77024140;C/T missense_variant False E2F8@p.E149Q 1 0.179487179 ENSG00000129173 chr11:19237320-19237320;C/G missense_variant False E2F8@p.E107Q 1 0.142857143 ENSG00000129173 chr11:19237446-19237446;C/G missense_variant False E2F8@p.D317N 1 0.317307692 ENSG00000129173 chr11:19232351-19232351;C/T missense_variant False E2F8@p.D159N 1 0.294117647 ENSG00000129173 chr11:19235035-19235035;C/T missense_variant False E2F7@p.S673F 1 0.523076923 ENSG00000165891 chr12:77028005-77028005;G/A missense_variant False E2F7@p.S291R 1 0.277777778 ENSG00000165891 chr12:77044754-77044754;T/G missense_variant False E2F7@p.E457Q 1 0.1875 ENSG00000165891 chr12:77033063-77033063;C/G missense_variant False EAF2@p.D260Y 1 0.096491228 ENSG00000145088 chr3:121886383-121886383;G/T missense_variant False E2F7@p.E27Q 1 0.247058824 ENSG00000165891 chr12:77064557-77064557;C/G missense_variant False E2F7@p.D74H 1 0.277777778 ENSG00000165891 chr12:77056004-77056004;C/G missense_variant False E2F6@p.S81Y 1 0.312977099 ENSG00000169016 chr2:11453720-11453720;G/T missense_variant False E2F5@p.S221L 1 0.127272727 ENSG00000133740 chr8:85209188-85209188;C/T missense_variant False E2F5@p.I302M 1 0.220338983 ENSG00000133740 chr8:85212179-85212179;C/G missense_variant False E2F5@p.I178M 1 0.25 ENSG00000133740 chr8:85206204-85206204;C/G missense_variant False E2F8@p.E24Q 1 0.181818182 ENSG00000129173 chr11:19238078-19238078;C/G missense_variant False E2F8@p.E34K 1 0.323076923 ENSG00000129173 chr11:19238048-19238048;C/T missense_variant False E2F8@p.I141S 1 0.148148148 ENSG00000129173 chr11:19237343-19237343;A/C missense_variant False E2F8@p.I328T 1 0.610169492 ENSG00000129173 chr11:19232317-19232317;A/G missense_variant False E2F8@p.K617N 1 0.264150943 ENSG00000129173 chr11:19229496-19229496;C/G missense_variant False E2F8@p.M18I 1 0.38028169 ENSG00000129173 chr11:19238094-19238094;C/G missense_variant False E2F8@p.N131Rfs*7 1 0.074074074 ENSG00000129173 chr11:19237335-19237375;CAAGGCAGATGTCATTATTCACAGCAGGGTTGGGATAATTA/- frameshift_variant False E2F8@p.P56L 1 0.432432432 ENSG00000129173 chr11:19237981-19237981;G/A missense_variant False E2F8@p.R267Gfs*2 1 0.421568627 ENSG00000129173 chr11:19234489-19234489;T/- frameshift_variant False E2F8@p.R602T 1 0.3125 ENSG00000129173 chr11:19229542-19229542;C/G missense_variant False E2F8@p.T553P 1 0.303921569 ENSG00000129173 chr11:19229690-19229690;T/G missense_variant False E4F1@p.A107V 1 0.251908397 ENSG00000167967 chr16:2229580-2229580;C/T missense_variant False E4F1@p.R507H 1 0.188679245 ENSG00000167967 chr16:2234315-2234315;G/A missense_variant False EAF1@p.P148S 1 0.129449838 ENSG00000144597 chr3:15434454-15434454;C/T missense_variant False EAF1@p.P222S 1 0.638888889 ENSG00000144597 chr3:15436479-15436479;C/T missense_variant False EAF1@p.R129C 1 0.076923077 ENSG00000144597 chr3:15434397-15434397;C/T missense_variant False EAF1@p.S195C 1 0.6 ENSG00000144597 chr3:15436399-15436399;C/G missense_variant False EEF1A1@p.G50R 1 0.322580645 ENSG00000156508 chr6:73519513-73519513;C/G missense_variant False EEF1A1@p.Q251_Y254delinsH 1 0.315217391 ENSG00000156508 chr6:73518709-73518717;TAGACATCC/- inframe_deletion False EHMT2@p.R652Q 1 0.205128205 ENSG00000204371 chr6:31887633-31887633;C/T missense_variant False EGFLAM@p.N1010T 1 0.285714286 ENSG00000164318 chr5:38463961-38463961;A/C missense_variant False EGFR@p.E1079K 1 0.307692308 ENSG00000146648 chr7:55202589-55202589;G/A missense_variant True EGFLAM@p.Y965H 1 0.209677419 ENSG00000164318 chr5:38463005-38463005;T/C missense_variant False EGFLAM@p.S273F 1 0.208333333 ENSG00000164318 chr5:38406231-38406231;C/T missense_variant False EGFLAM@p.R861T 1 0.087804878 ENSG00000164318 chr5:38451329-38451329;G/C missense_variant False EGFLAM@p.R523T 1 0.122270742 ENSG00000164318 chr5:38418139-38418139;G/C missense_variant False EGFLAM@p.Q197H 1 0.7 ENSG00000164318 chr5:38370341-38370341;G/C missense_variant False EGFLAM@p.K747N 1 0.208053691 ENSG00000164318 chr5:38435211-38435211;G/C missense_variant False EGFR@p.F359L 1 0.178082192 ENSG00000146648 chr7:55156603-55156603;C/A missense_variant True EGFLAM@p.I832R 1 0.321637427 ENSG00000164318 chr5:38448307-38448307;T/G missense_variant False EGFLAM@p.E83G 1 0.236842105 ENSG00000164318 chr5:38338738-38338738;A/G missense_variant False EGFLAM@p.E414Q 1 0.168831169 ENSG00000164318 chr5:38407897-38407897;G/C missense_variant False EGFL7@p.S41C 1 0.104347826 ENSG00000172889 chr9:136668598-136668598;C/G missense_variant False EGFL7@p.D139N 1 0.233333333 ENSG00000172889 chr9:136670174-136670174;G/A missense_variant False EGFL6@p.S289N 1 0.186046512 ENSG00000198759 chrX:13617817-13617817;G/A missense_variant False EGFR@p.E711K 1 0.223300971 ENSG00000146648 chr7:55173990-55173990;G/A missense_variant True EGFR@p.Q390R 1 0.226415094 ENSG00000146648 chr7:55156794-55156794;A/G missense_variant True EEF1A1@p.R430T 1 0.177777778 ENSG00000156508 chr6:73517910-73517910;C/G missense_variant False EGLN2@p.L179V 1 0.1640625 ENSG00000269858 chr19:40801107-40801107;C/G missense_variant False EGR1@p.R327Q 1 0.406015038 ENSG00000120738 chr5:138467429-138467429;G/A missense_variant False EGR1@p.R280H 1 0.1375 ENSG00000120738 chr5:138467288-138467288;G/A missense_variant False EGR1@p.R136L 1 0.063492063 ENSG00000120738 chr5:138466856-138466856;G/T missense_variant False EGR1@p.P46T 1 0.930232558 ENSG00000120738 chr5:138465897-138465897;C/A missense_variant False EGR1@p.G135D 1 0.543624161 ENSG00000120738 chr5:138466853-138466853;G/A missense_variant False EGLN2@p.R77Q 1 0.225806452 ENSG00000269858 chr19:40800802-40800802;G/A missense_variant False EGLN2@p.E332Q 1 0.298969072 ENSG00000269858 chr19:40807168-40807168;G/C missense_variant False EGFR@p.R836H 1 0.083969466 ENSG00000146648 chr7:55191756-55191756;G/A missense_variant True EGLN2@p.E332K 1 0.242857143 ENSG00000269858 chr19:40807168-40807168;G/A missense_variant False EGLN1@p.S418L 1 0.157894737 ENSG00000135766 chr1:231366439-231366439;G/A missense_variant False EGLN1@p.R16Q 1 0.7 ENSG00000135766 chr1:231421842-231421842;C/T missense_variant False EGLN1@p.M202I 1 0.111111111 ENSG00000135766 chr1:231421283-231421283;C/T missense_variant False EGFR@p.V121F 1 0.370967742 ENSG00000146648 chr7:55143425-55143425;G/T missense_variant True EGFR@p.T384S 1 0.165217391 ENSG00000146648 chr7:55156776-55156776;C/G missense_variant True EGFL6@p.M290I 1 0.362162162 ENSG00000198759 chrX:13617821-13617821;G/T missense_variant False EGF@p.S626C 1 0.163461538 ENSG00000138798 chr4:109976059-109976059;C/G missense_variant False EGF@p.S577Y 1 0.370967742 ENSG00000138798 chr4:109974708-109974708;C/A missense_variant False EFR3A@p.G359Dfs*3 1 0.179775281 ENSG00000132294 chr8:131970555-131970555;G/- frameshift_variant False EFS@p.D390H 1 0.246153846 ENSG00000100842 chr14:23358959-23358959;C/G missense_variant False EFR3A@p.S468C 1 0.201117318 ENSG00000132294 chr8:131978923-131978923;C/G missense_variant False EFR3A@p.S459A 1 0.149253731 ENSG00000132294 chr8:131978895-131978895;T/G missense_variant False EFR3A@p.R70C 1 0.714285714 ENSG00000132294 chr8:131944865-131944865;C/T missense_variant False EFR3A@p.R628Q 1 0.379310345 ENSG00000132294 chr8:131986207-131986207;G/A missense_variant False EFR3A@p.L480F 1 0.106719368 ENSG00000132294 chr8:131978960-131978960;G/T missense_variant False EFR3A@p.E350Q 1 0.081081081 ENSG00000132294 chr8:131970532-131970532;G/C missense_variant False EGF@p.R1163Q 1 0.360655738 ENSG00000138798 chr4:110011319-110011319;G/A missense_variant False EFNB3@p.P329L 1 0.385964912 ENSG00000108947 chr17:7709539-7709539;C/T missense_variant False EFNB3@p.G279S 1 0.2 ENSG00000108947 chr17:7709388-7709388;G/A missense_variant False EFNB2@p.M158I 1 0.191358025 ENSG00000125266 chr13:106495773-106495773;C/A missense_variant False EFNB2@p.G283V 1 0.410714286 ENSG00000125266 chr13:106493194-106493194;C/A missense_variant False EFNB2@p.G283S 1 0.169811321 ENSG00000125266 chr13:106493195-106493195;C/T missense_variant False EFNB2@p.G191V 1 0.055900621 ENSG00000125266 chr13:106494922-106494922;C/A missense_variant False EFS@p.E211K 1 0.192307692 ENSG00000100842 chr14:23359847-23359847;C/T missense_variant False EFS@p.K475N 1 0.289473684 ENSG00000100842 chr14:23357487-23357487;C/G missense_variant False EFS@p.L13M 1 0.468085106 ENSG00000100842 chr14:23360815-23360815;G/T missense_variant False EFS@p.T543S 1 0.233766234 ENSG00000100842 chr14:23357285-23357285;T/A missense_variant False EFTUD2@p.E622Q 1 0.094117647 ENSG00000108883 chr17:44859178-44859178;C/G missense_variant False EFTUD2@p.I588M 1 0.285140562 ENSG00000108883 chr17:44860001-44860001;G/C missense_variant False EFTUD2@p.I700T 1 0.397260274 ENSG00000108883 chr17:44854951-44854951;A/G missense_variant False EFTUD2@p.M957V 1 0.636363636 ENSG00000108883 chr17:44851324-44851324;T/C missense_variant False EFTUD2@p.P545S 1 0.295774648 ENSG00000108883 chr17:44860518-44860518;G/A missense_variant False EGF@p.C395Y 1 0.32 ENSG00000138798 chr4:109960984-109960984;G/A missense_variant False EGF@p.D640N 1 0.298076923 ENSG00000138798 chr4:109976100-109976100;G/A missense_variant False EGF@p.E343Q 1 0.388059701 ENSG00000138798 chr4:109959398-109959398;G/C missense_variant False EGF@p.E537D 1 0.274193548 ENSG00000138798 chr4:109969006-109969006;G/C missense_variant False EGF@p.E624K 1 0.158371041 ENSG00000138798 chr4:109976052-109976052;G/A missense_variant False EGF@p.E849Q 1 0.12987013 ENSG00000138798 chr4:109987797-109987797;G/C missense_variant False EGF@p.E851Q 1 0.359649123 ENSG00000138798 chr4:109987803-109987803;G/C missense_variant False EGF@p.Q1207E 1 0.166666667 ENSG00000138798 chr4:110011450-110011450;C/G missense_variant False EGR1@p.S183F 1 0.25 ENSG00000120738 chr5:138466997-138466997;C/T missense_variant False EGR1@p.S460Y 1 0.222222222 ENSG00000120738 chr5:138467828-138467828;C/A missense_variant False EGR1@p.S480L 1 0.441176471 ENSG00000120738 chr5:138467888-138467888;C/T missense_variant False EHD3@p.T226M 1 0.5 ENSG00000013016 chr2:31260684-31260684;C/T missense_variant False EHHADH@p.E254K 1 0.291208791 ENSG00000113790 chr3:185204566-185204566;C/T missense_variant False EHF@p.K290N 1 0.255813953 ENSG00000135373 chr11:34658898-34658898;G/C missense_variant False EHF@p.H208Y 1 0.855072464 ENSG00000135373 chr11:34658547-34658547;C/T missense_variant False EHF@p.E77Q 1 0.31884058 ENSG00000135373 chr11:34646570-34646570;G/C missense_variant False EHD4@p.Y172C 1 0.489795918 ENSG00000103966 chr15:41919619-41919619;T/C missense_variant False EHD4@p.D186Y 1 0.243902439 ENSG00000103966 chr15:41919578-41919578;C/A missense_variant False EHD3@p.N57S 1 0.338709677 ENSG00000013016 chr2:31234791-31234791;A/G missense_variant False EHD1@p.E51K 1 0.469879518 ENSG00000110047 chr11:64878314-64878314;C/T missense_variant False EHD2@p.V477L 1 0.164383562 ENSG00000024422 chr19:47741229-47741229;G/T missense_variant False EHD2@p.S201L 1 0.314285714 ENSG00000024422 chr19:47725911-47725911;C/T missense_variant False EHD2@p.R488H 1 0.34 ENSG00000024422 chr19:47741263-47741263;G/A missense_variant False EHD2@p.E441K 1 0.125 ENSG00000024422 chr19:47741121-47741121;G/A missense_variant False EHD2@p.E180Q 1 0.097560976 ENSG00000024422 chr19:47725847-47725847;G/C missense_variant False EHD1@p.Q340H 1 0.305084746 ENSG00000110047 chr11:64855382-64855382;C/G missense_variant False EHHADH@p.E630K 1 0.047368421 ENSG00000113790 chr3:185192510-185192510;C/T missense_variant False EHHADH@p.R266T 1 0.408333333 ENSG00000113790 chr3:185204529-185204529;C/G missense_variant False EHHADH@p.R553Gfs*16 1 0.166666667 ENSG00000113790 chr3:185192741-185192741;T/- frameshift_variant False EHHADH@p.R604T 1 0.19047619 ENSG00000113790 chr3:185192587-185192587;C/G missense_variant False EHMT1@p.D1248H 1 0.095238095 ENSG00000181090 chr9:137834798-137834798;G/C missense_variant False EHMT1@p.D512H 1 0.146341463 ENSG00000181090 chr9:137762707-137762707;G/C missense_variant False EHMT1@p.L519F 1 0.320987654 ENSG00000181090 chr9:137762728-137762728;C/T missense_variant False EHMT1@p.R449T 1 0.058139535 ENSG00000181090 chr9:137754268-137754268;G/C missense_variant False EHMT1@p.R490Q 1 0.584070796 ENSG00000181090 chr9:137757979-137757979;G/A missense_variant False EHMT2@p.D57N 1 0.596153846 ENSG00000204371 chr6:31896765-31896765;C/T missense_variant False EHMT2@p.E1201K 1 0.476190476 ENSG00000204371 chr6:31880116-31880116;C/T missense_variant False EHMT2@p.E1201Q 1 0.096153846 ENSG00000204371 chr6:31880116-31880116;C/G missense_variant False EHMT2@p.E482K 1 0.101123596 ENSG00000204371 chr6:31888428-31888428;C/T missense_variant False EHMT2@p.E630K 1 0.123595506 ENSG00000204371 chr6:31887819-31887819;C/T missense_variant False EHMT2@p.G233V 1 0.155172414 ENSG00000204371 chr6:31892704-31892704;C/A missense_variant False EHMT2@p.P563A 1 0.1 ENSG00000204371 chr6:31888099-31888099;G/C missense_variant False EHMT2@p.R1191H 1 0.166666667 ENSG00000204371 chr6:31880145-31880145;C/T missense_variant False EHD1@p.G65W 1 0.157142857 ENSG00000110047 chr11:64878272-64878272;C/A missense_variant False EHD1@p.E44K 1 0.438356164 ENSG00000110047 chr11:64878335-64878335;C/T missense_variant False EGR2@p.R409Q 1 0.273972603 ENSG00000122877 chr10:62813412-62813412;C/T missense_variant False EGR4@p.I517M 1 0.4 ENSG00000135625 chr2:73291676-73291676;G/C missense_variant False EHBP1@p.E911Q 1 0.227272727 ENSG00000115504 chr2:62987948-62987948;G/C missense_variant False EHBP1@p.E225K 1 0.063157895 ENSG00000115504 chr2:62858444-62858444;G/A missense_variant False EHBP1@p.E198K 1 0.268292683 ENSG00000115504 chr2:62831116-62831116;G/A missense_variant False EHBP1@p.E1084Q 1 0.337837838 ENSG00000115504 chr2:62996700-62996700;G/C missense_variant False EHBP1@p.D727Y 1 0.1 ENSG00000115504 chr2:62948920-62948920;G/T missense_variant False EGR4@p.R520C 1 0.111111111 ENSG00000135625 chr2:73291669-73291669;G/A missense_variant False EGR4@p.F550L 1 0.6 ENSG00000135625 chr2:73291577-73291577;G/T missense_variant False EHBP1L1@p.S3L 1 0.2 ENSG00000173442 chr11:65576310-65576310;C/T missense_variant False EGR4@p.A309V 1 0.307692308 ENSG00000135625 chr2:73292301-73292301;G/A missense_variant False EGR4@p.A176V 1 0.75 ENSG00000135625 chr2:73292700-73292700;G/A missense_variant False EGR3@p.F286L 1 0.435294118 ENSG00000179388 chr8:22690779-22690779;G/C missense_variant False EGR3@p.E280K 1 0.5 ENSG00000179388 chr8:22690799-22690799;C/T missense_variant False EGR3@p.D346H 1 0.219178082 ENSG00000179388 chr8:22690601-22690601;C/G missense_variant False EGR2@p.V447M 1 0.747572816 ENSG00000122877 chr10:62813299-62813299;C/T missense_variant False EHBP1@p.E975Q 1 0.3 ENSG00000115504 chr2:62990817-62990817;G/C missense_variant False EHBP1@p.E978Q 1 0.153846154 ENSG00000115504 chr2:62990826-62990826;G/C missense_variant False EHBP1@p.G661R 1 0.414634146 ENSG00000115504 chr2:62948722-62948722;G/A missense_variant False EHBP1@p.I332M 1 0.06 ENSG00000115504 chr2:62864864-62864864;A/G missense_variant False EHBP1@p.I753M 1 0.102040816 ENSG00000115504 chr2:62949000-62949000;C/G missense_variant False EHBP1@p.K137I 1 0.279569892 ENSG00000115504 chr2:62826184-62826184;A/T missense_variant False EHBP1@p.R342K 1 0.289855072 ENSG00000115504 chr2:62864893-62864893;G/A missense_variant False EHBP1@p.R518Q 1 0.170212766 ENSG00000115504 chr2:62948294-62948294;G/A missense_variant False EHBP1@p.S155C 1 0.153846154 ENSG00000115504 chr2:62826238-62826238;C/G missense_variant False EHBP1@p.S307N 1 0.461538462 ENSG00000115504 chr2:62864788-62864788;G/A missense_variant False EHBP1@p.S769N 1 0.594594595 ENSG00000115504 chr2:62949047-62949047;G/A missense_variant False EHBP1L1@p.E1045Q 1 0.27184466 ENSG00000173442 chr11:65584280-65584280;G/C missense_variant False EHBP1L1@p.E222K 1 0.214285714 ENSG00000173442 chr11:65581087-65581087;G/A missense_variant False EHBP1L1@p.E715K 1 0.26 ENSG00000173442 chr11:65582815-65582815;G/A missense_variant False EHBP1L1@p.E765K 1 0.302325581 ENSG00000173442 chr11:65582965-65582965;G/A missense_variant False EHBP1L1@p.P455L 1 0.207207207 ENSG00000173442 chr11:65582036-65582036;C/T missense_variant False EHBP1L1@p.S141L 1 0.227272727 ENSG00000173442 chr11:65580190-65580190;C/T missense_variant False EFNB1@p.P335L 1 0.472222222 ENSG00000090776 chrX:68840617-68840617;C/T missense_variant False EFNB1@p.P230L 1 0.175 ENSG00000090776 chrX:68840302-68840302;C/T missense_variant False EFNA5@p.D51N 1 0.489583333 ENSG00000184349 chr5:107427484-107427484;C/T missense_variant False EEF2K@p.E67K 1 0.303921569 ENSG00000103319 chr16:22225928-22225928;G/A missense_variant False EEF2KMT@p.R39T 1 0.229508197 ENSG00000118894 chr16:5095495-5095495;C/G missense_variant False EEF2KMT@p.E45K 1 0.149122807 ENSG00000118894 chr16:5095478-5095478;C/T missense_variant False EEF2K@p.T648S 1 0.388888889 ENSG00000103319 chr16:22280250-22280250;A/T missense_variant False EEF2K@p.S366F 1 0.29245283 ENSG00000103319 chr16:22258561-22258561;C/T missense_variant False EEF2K@p.M421V 1 0.098557692 ENSG00000103319 chr16:22260491-22260491;A/G missense_variant False EEF2K@p.M143I 1 0.346153846 ENSG00000103319 chr16:22250674-22250674;G/A missense_variant False EEF2K@p.E183Q 1 0.326086957 ENSG00000103319 chr16:22251251-22251251;G/C missense_variant False EEF1G@p.E267K 1 0.361702128 ENSG00000254772 chr11:62566864-62566864;C/T missense_variant False EEF2K@p.D621N 1 0.333333333 ENSG00000103319 chr16:22273722-22273722;G/A missense_variant False EEF2@p.Y397C 1 0.392156863 ENSG00000167658 chr19:3980670-3980670;T/C missense_variant False EEF2@p.L524Q 1 0.428571429 ENSG00000167658 chr19:3979842-3979842;A/T missense_variant False EEF2@p.I649M 1 0.375 ENSG00000167658 chr19:3977939-3977939;G/C missense_variant False EEF2@p.E63K 1 0.325842697 ENSG00000167658 chr19:3984167-3984167;C/T missense_variant False EEF2@p.E539K 1 0.288135593 ENSG00000167658 chr19:3979427-3979427;C/T missense_variant False EEF2KMT@p.R48W 1 0.170731707 ENSG00000118894 chr16:5095469-5095469;G/A missense_variant False EEFSEC@p.E192K 1 0.121359223 ENSG00000132394 chr3:128262177-128262177;G/A missense_variant False EEFSEC@p.E197K 1 0.196428571 ENSG00000132394 chr3:128262192-128262192;G/A missense_variant False EEFSEC@p.E320K 1 0.182926829 ENSG00000132394 chr3:128341404-128341404;G/A missense_variant False EEPD1@p.E339K 1 0.344827586 ENSG00000122547 chr7:36281199-36281199;G/A missense_variant False EEPD1@p.Q269P 1 0.135135135 ENSG00000122547 chr7:36155130-36155130;A/C missense_variant False EEPD1@p.R258M 1 0.264705882 ENSG00000122547 chr7:36155097-36155097;G/T missense_variant False EEPD1@p.R551W 1 0.432432432 ENSG00000122547 chr7:36299147-36299147;C/T missense_variant False EFCAB11@p.S62F 1 0.318181818 ENSG00000140025 chr14:89950129-89950129;G/A missense_variant False EFCAB12@p.E220Q 1 0.432432432 ENSG00000172771 chr3:129418277-129418277;C/G missense_variant False EFCAB12@p.R58Q 1 0.204081633 ENSG00000172771 chr3:129421680-129421680;C/T missense_variant False EFCAB13@p.D19H 1 0.217821782 ENSG00000178852 chr17:47335220-47335220;G/C missense_variant False EFCAB13@p.E491K 1 0.244897959 ENSG00000178852 chr17:47377864-47377864;G/A missense_variant False EFCAB13@p.F369C 1 0.380952381 ENSG00000178852 chr17:47374700-47374700;T/G missense_variant False EFCAB13@p.M272T 1 0.290697674 ENSG00000178852 chr17:47370446-47370446;T/C missense_variant False EFCAB13@p.R521Q 1 0.50877193 ENSG00000178852 chr17:47379233-47379233;G/A missense_variant False EFCAB14@p.D332H 1 0.4 ENSG00000159658 chr1:46686864-46686864;C/G missense_variant False EEF1G@p.K354N 1 0.676470588 ENSG00000254772 chr11:62560162-62560162;C/G missense_variant False EEF1G@p.E260K 1 0.202531646 ENSG00000254772 chr11:62566885-62566885;C/T missense_variant False EFCAB14@p.R33C 1 0.084745763 ENSG00000159658 chr1:46717991-46717991;G/A missense_variant False EEF1AKMT1@p.S146L 1 0.530434783 ENSG00000150456 chr13:20731912-20731912;G/A missense_variant False EEF1AKMT4-ECE2@p.E318K 1 0.307692308 ENSG00000284917 chr3:184278044-184278044;G/A missense_variant False EEF1AKMT4-ECE2@p.E24K 1 0.387096774 ENSG00000284917 chr3:184249764-184249764;G/A missense_variant False EEF1AKMT4-ECE2@p.D476N 1 0.281081081 ENSG00000284917 chr3:184285029-184285029;G/A missense_variant False EEF1AKMT3@p.Y177C 1 0.359375 ENSG00000123427 chr12:57780495-57780495;A/G missense_variant False EEF1AKMT3@p.D151N 1 0.155555556 ENSG00000123427 chr12:57780416-57780416;G/A missense_variant False EEF1AKMT1@p.T156N 1 0.093457944 ENSG00000150456 chr13:20731882-20731882;G/T missense_variant False EEF1AKMT1@p.E5V 1 0.127659574 ENSG00000150456 chr13:20757585-20757585;T/A missense_variant False EEF1E1@p.Y122C 1 0.262295082 ENSG00000124802 chr6:8090205-8090205;T/C missense_variant False EEF1AKMT1@p.E26Q 1 0.240963855 ENSG00000150456 chr13:20757523-20757523;C/G missense_variant False EEF1A2@p.I8M 1 0.134920635 ENSG00000101210 chr20:63497740-63497740;G/C missense_variant False EEF1A2@p.E68Q 1 0.232142857 ENSG00000101210 chr20:63495978-63495978;C/G missense_variant False EEF1A2@p.E297K 1 0.286666667 ENSG00000101210 chr20:63490619-63490619;C/T missense_variant False EEF1A1@p.Y167D 1 0.345454545 ENSG00000156508 chr6:73519054-73519054;A/C missense_variant False EEF1A1@p.V433F 1 0.236111111 ENSG00000156508 chr6:73517902-73517902;C/A missense_variant False EEF1AKMT4-ECE2@p.Q416H 1 0.212121212 ENSG00000284917 chr3:184283862-184283862;G/C missense_variant False EEF1AKMT4-ECE2@p.R21L 1 0.123076923 ENSG00000284917 chr3:184249756-184249756;G/T missense_variant False EEF1AKMT4-ECE2@p.R230Q 1 0.258064516 ENSG00000284917 chr3:184277323-184277323;G/A missense_variant False EEF1AKMT4-ECE2@p.R860C 1 0.327586207 ENSG00000284917 chr3:184292164-184292164;C/T missense_variant False EEF1AKMT4-ECE2@p.S298C 1 0.257861635 ENSG00000284917 chr3:184277985-184277985;C/G missense_variant False EEF1AKNMT@p.A453V 1 0.152777778 None chr1:171790500-171790500;C/T missense_variant False EEF1AKNMT@p.D406Y 1 0.139534884 None chr1:171787837-171787837;G/T missense_variant False EEF1AKNMT@p.L598V 1 0.383561644 None chr1:171794494-171794494;C/G missense_variant False EEF1AKNMT@p.P111S 1 0.208333333 None chr1:171783917-171783917;C/T missense_variant False EEF1AKNMT@p.Q163E 1 0.179487179 None chr1:171784073-171784073;C/G missense_variant False EEF1AKNMT@p.R260L 1 0.153846154 None chr1:171784365-171784365;G/T missense_variant False EEF1AKNMT@p.V646M 1 0.126436782 None chr1:171796592-171796592;G/A missense_variant False EEF1B2@p.D102H 1 0.151515152 ENSG00000114942 chr2:206161446-206161446;G/C missense_variant False EEF1B2@p.S90T 1 0.425287356 ENSG00000114942 chr2:206161411-206161411;G/C missense_variant False EEF1D@p.I245_Q246del 1 0.104166667 ENSG00000104529 chr8:143580081-143580086;CTGAAT/- inframe_deletion False EEF1D@p.S44N 1 0.411764706 ENSG00000104529 chr8:143586277-143586277;C/T missense_variant False EEF1E1@p.E137D 1 0.440860215 ENSG00000124802 chr6:8080004-8080004;C/A missense_variant False EFCAB14@p.K214T 1 0.551724138 ENSG00000159658 chr1:46691876-46691876;T/G missense_variant False EFCAB1@p.E198K 1 0.609756098 ENSG00000034239 chr8:48724786-48724786;C/T missense_variant False EFNA5@p.D172Y 1 0.55 ENSG00000184349 chr5:107387286-107387286;C/A missense_variant False EFHB@p.L684V 1 0.268571429 ENSG00000163576 chr3:19884499-19884499;G/C missense_variant False EFHB@p.S368F 1 0.245098039 ENSG00000163576 chr3:19918306-19918306;G/A missense_variant False EFHB@p.R685Q 1 0.32 ENSG00000163576 chr3:19884495-19884495;C/T missense_variant False EFHB@p.R311T 1 0.484375 ENSG00000163576 chr3:19919897-19919897;C/G missense_variant False EFHB@p.R108K 1 0.27027027 ENSG00000163576 chr3:19933696-19933696;C/T missense_variant False EFHB@p.Q138K 1 0.084337349 ENSG00000163576 chr3:19933607-19933607;G/T missense_variant False EFHB@p.N313Y 1 0.101522843 ENSG00000163576 chr3:19919892-19919892;T/A missense_variant False EFHB@p.F410L 1 0.472 ENSG00000163576 chr3:19915361-19915361;A/C missense_variant False EFCAB7@p.W356R 1 0.611111111 ENSG00000203965 chr1:63555367-63555367;T/C missense_variant False EFHB@p.E489K 1 0.352272727 ENSG00000163576 chr3:19899469-19899469;C/T missense_variant False EFEMP1@p.S196Y 1 0.368421053 ENSG00000115380 chr2:55881665-55881665;G/T missense_variant False EFEMP1@p.P150S 1 0.452830189 ENSG00000115380 chr2:55917734-55917734;G/A missense_variant False EFEMP1@p.P128R 1 0.220338983 ENSG00000115380 chr2:55917799-55917799;G/C missense_variant False EFEMP1@p.G474E 1 0.348214286 ENSG00000115380 chr2:55867134-55867134;C/T missense_variant False EFEMP1@p.E34Q 1 0.105263158 ENSG00000115380 chr2:55918249-55918249;C/G missense_variant False EFHB@p.S441G 1 0.386666667 ENSG00000163576 chr3:19905717-19905717;T/C missense_variant False EFHC1@p.D286E 1 0.25 ENSG00000096093 chr6:52454229-52454229;T/G missense_variant False EFHC1@p.L220F 1 0.28030303 ENSG00000096093 chr6:52452772-52452772;C/T missense_variant False EFHC1@p.Y345C 1 0.35042735 ENSG00000096093 chr6:52465012-52465012;A/G missense_variant False EFHC2@p.G308D 1 0.442105263 ENSG00000183690 chrX:44248852-44248852;C/T missense_variant False EFHC2@p.H625Y 1 0.32 ENSG00000183690 chrX:44178443-44178443;G/A missense_variant False EFHC2@p.P139T 1 0.214285714 ENSG00000183690 chrX:44261266-44261266;G/T missense_variant False EFHD1@p.D143N 1 0.173076923 ENSG00000115468 chr2:232662926-232662926;G/A missense_variant False EFHD1@p.E208Q 1 0.274509804 ENSG00000115468 chr2:232681621-232681621;G/C missense_variant False EFHD2@p.R218T 1 0.466666667 ENSG00000142634 chr1:15428654-15428654;G/C missense_variant False EFL1@p.E730K 1 0.076335878 ENSG00000140598 chr15:82152266-82152266;C/T missense_variant False EFL1@p.I369V 1 0.56122449 ENSG00000140598 chr15:82227537-82227537;T/C missense_variant False EFL1@p.K857T 1 0.37704918 ENSG00000140598 chr15:82151884-82151884;T/G missense_variant False EFL1@p.S221C 1 0.085106383 ENSG00000140598 chr15:82238376-82238376;G/C missense_variant False EFNA2@p.E84K 1 0.25 ENSG00000099617 chr19:1295654-1295654;G/A missense_variant False EFNA3@p.F198V 1 0.430232558 ENSG00000143590 chr1:155086418-155086418;T/G missense_variant False EFNA4@p.S109L 1 0.235294118 ENSG00000243364 chr1:155066942-155066942;C/T missense_variant False EFEMP1@p.C48F 1 0.434782609 ENSG00000115380 chr2:55918039-55918039;C/A missense_variant False EFCAB7@p.Q14E 1 0.353535354 ENSG00000203965 chr1:63525612-63525612;C/G missense_variant False EFCAB1@p.S100F 1 0.382352941 ENSG00000034239 chr8:48730560-48730560;G/A missense_variant False EFCAB5@p.E601Q 1 0.088888889 ENSG00000176927 chr17:30053755-30053755;G/C missense_variant False EFCAB5@p.L1326V 1 0.230769231 ENSG00000176927 chr17:30091909-30091909;C/G missense_variant False EFCAB5@p.L1312Rfs*3 1 0.264705882 ENSG00000176927 chr17:30090669-30090670;TC/- frameshift_variant False EFCAB5@p.K1405N 1 0.103448276 ENSG00000176927 chr17:30092148-30092148;G/T missense_variant False EFCAB5@p.K1307N 1 0.187969925 ENSG00000176927 chr17:30090658-30090658;G/C missense_variant False EFCAB5@p.E927K 1 0.252525253 ENSG00000176927 chr17:30078256-30078256;G/A missense_variant False EFCAB5@p.E611Q 1 0.267676768 ENSG00000176927 chr17:30053785-30053785;G/C missense_variant False EFCAB5@p.E495K 1 0.132841328 ENSG00000176927 chr17:30053437-30053437;G/A missense_variant False EFCAB7@p.L304V 1 0.127659574 ENSG00000203965 chr1:63546021-63546021;C/G missense_variant False EFCAB5@p.E1034D 1 0.152542373 ENSG00000176927 chr17:30080146-30080146;G/C missense_variant False EFCAB5@p.D356H 1 0.189873418 ENSG00000176927 chr17:30034251-30034251;G/C missense_variant False EFCAB5@p.A147Gfs*2 1 0.5 ENSG00000176927 chr17:29969030-29969031;-/A frameshift_variant False EFCAB3@p.T379A 1 0.449541284 ENSG00000172421 chr17:62416147-62416147;A/G missense_variant False EFCAB3@p.M81I 1 0.132352941 ENSG00000172421 chr17:62391913-62391913;G/A missense_variant False EFCAB3@p.D365H 1 0.125874126 ENSG00000172421 chr17:62416105-62416105;G/C missense_variant False EFCAB5@p.L961V 1 0.357664234 ENSG00000176927 chr17:30078358-30078358;C/G missense_variant False EFCAB5@p.M767K 1 0.071428571 ENSG00000176927 chr17:30056091-30056091;T/A missense_variant False EFCAB5@p.R630K 1 0.17791411 ENSG00000176927 chr17:30053843-30053843;G/A missense_variant False EFCAB5@p.R806Efs*23 1 0.207792208 ENSG00000176927 chr17:30057726-30057741;AGAACTGCCTTCAATG/- frameshift_variant False EFCAB5@p.S1303A 1 0.214285714 ENSG00000176927 chr17:30090644-30090644;T/G missense_variant False EFCAB6@p.D420N 1 0.534482759 ENSG00000186976 chr22:43678157-43678157;C/T missense_variant False EFCAB6@p.D880H 1 0.30952381 ENSG00000186976 chr22:43608525-43608525;C/G missense_variant False EFCAB6@p.E1002K 1 0.407407407 ENSG00000186976 chr22:43590102-43590102;C/T missense_variant False EFCAB6@p.E1084K 1 0.357142857 ENSG00000186976 chr22:43576467-43576467;C/T missense_variant False EFCAB6@p.E303K 1 0.185185185 ENSG00000186976 chr22:43711599-43711599;C/T missense_variant False EFCAB6@p.G933S 1 0.276470588 ENSG00000186976 chr22:43600148-43600148;C/T missense_variant False EFCAB6@p.L791F 1 0.141025641 ENSG00000186976 chr22:43626539-43626539;C/G missense_variant False EFCAB6@p.R280K 1 0.25 ENSG00000186976 chr22:43716891-43716891;C/T missense_variant False EFCAB6@p.S318A 1 0.153846154 ENSG00000186976 chr22:43711554-43711554;A/C missense_variant False EFCAB6@p.S999Y 1 0.464 ENSG00000186976 chr22:43590110-43590110;G/T missense_variant False EFCAB6@p.T1195N 1 0.116883117 ENSG00000186976 chr22:43554933-43554933;G/T missense_variant False EFCAB7@p.E32K 1 0.084507042 ENSG00000203965 chr1:63525666-63525666;G/A missense_variant False ENPP1@p.R861K 1 0.272727273 ENSG00000197594 chr6:131886699-131886699;G/A missense_variant False ENPP1@p.T601M 1 0.379310345 ENSG00000197594 chr6:131877070-131877070;C/T missense_variant False F5@p.D219H 1 0.223404255 ENSG00000198734 chr1:169559228-169559228;C/G missense_variant False ESX1@p.P94L 1 0.44 ENSG00000123576 chrX:104254379-104254379;G/A missense_variant False ESYT1@p.I207M 1 0.38 ENSG00000139641 chr12:56131093-56131093;C/G missense_variant False ESYT1@p.E882Q 1 0.373831776 ENSG00000139641 chr12:56142336-56142336;G/C missense_variant False ESYT1@p.E754Q 1 0.392156863 ENSG00000139641 chr12:56138195-56138195;G/C missense_variant False ESYT1@p.E655Q 1 0.222614841 ENSG00000139641 chr12:56137523-56137523;G/C missense_variant False ESX1@p.R204T 1 0.107142857 ENSG00000123576 chrX:104250838-104250838;C/G missense_variant False ESX1@p.R141C 1 0.185483871 ENSG00000123576 chrX:104254239-104254239;G/A missense_variant False ESX1@p.P404A 1 1.0 ENSG00000123576 chrX:104250239-104250239;G/C missense_variant False ESYT1@p.M589I 1 0.259259259 ENSG00000139641 chr12:56136878-56136878;G/T missense_variant False ESX1@p.N59H 1 0.931677019 ENSG00000123576 chrX:104254485-104254485;T/G missense_variant False ESX1@p.E21K 1 0.046610169 ENSG00000123576 chrX:104254789-104254789;C/T missense_variant False ESS2@p.Q82H 1 0.305147059 ENSG00000100056 chr22:19142784-19142784;C/G missense_variant False ESS2@p.P325L 1 0.435 ENSG00000100056 chr22:19137384-19137384;G/A missense_variant False ESS2@p.E362K 1 0.347457627 ENSG00000100056 chr22:19135127-19135127;C/T missense_variant False ESS2@p.E24Q 1 0.261904762 ENSG00000100056 chr22:19144571-19144571;C/G missense_variant False ESYT1@p.K1030E 1 0.138686131 ENSG00000139641 chr12:56143117-56143117;A/G missense_variant False ESYT1@p.P843L 1 0.142857143 ENSG00000139641 chr12:56138949-56138949;C/T missense_variant False EVC@p.E154Q 1 0.432432432 ENSG00000072840 chr4:5731500-5731500;G/C missense_variant False ESYT3@p.E877K 1 0.289156627 ENSG00000158220 chr3:138476822-138476822;G/A missense_variant False ETAA1@p.E618K 1 0.283687943 ENSG00000143971 chr2:67404534-67404534;G/A missense_variant False ETAA1@p.D629H 1 0.294871795 ENSG00000143971 chr2:67404567-67404567;G/C missense_variant False ETAA1@p.D607N 1 0.37414966 ENSG00000143971 chr2:67404501-67404501;G/A missense_variant False ETAA1@p.D381N 1 0.384615385 ENSG00000143971 chr2:67403823-67403823;G/A missense_variant False ESYT3@p.S873L 1 0.567164179 ENSG00000158220 chr3:138476486-138476486;C/T missense_variant False ESYT3@p.G263R 1 0.449152542 ENSG00000158220 chr3:138460659-138460659;G/A missense_variant False ESYT2@p.S758L 1 0.300813008 ENSG00000117868 chr7:158741583-158741583;G/A missense_variant False ESYT1@p.S758C 1 0.134615385 ENSG00000139641 chr12:56138208-56138208;C/G missense_variant False ESYT2@p.I282M 1 0.211538462 ENSG00000117868 chr7:158788384-158788384;G/C missense_variant False ESYT2@p.E393K 1 0.343434343 ENSG00000117868 chr7:158764829-158764829;C/T missense_variant False ESYT2@p.D909H 1 0.285714286 ENSG00000117868 chr7:158734248-158734248;C/G missense_variant False ESYT1@p.Y483H 1 0.213114754 ENSG00000139641 chr12:56133847-56133847;T/C missense_variant False ESYT1@p.Y121Lfs*20 1 0.151515152 ENSG00000139641 chr12:56128679-56128680;-/T frameshift_variant False ESYT1@p.S931F 1 0.373134328 ENSG00000139641 chr12:56142636-56142636;C/T missense_variant False ESS2@p.E24K 1 0.411764706 ENSG00000100056 chr22:19144571-19144571;C/T missense_variant False ESRRG@p.S36P 1 0.455882353 ENSG00000196482 chr1:216677442-216677442;A/G missense_variant False ESRRG@p.K40N 1 0.419354839 ENSG00000196482 chr1:216677428-216677428;C/G missense_variant False ESR1@p.A361E 1 0.411764706 ENSG00000091831 chr6:151944494-151944494;C/A missense_variant False ESR2@p.R329Q 1 0.318777293 ENSG00000140009 chr14:64257331-64257331;C/T missense_variant False ESR2@p.D435Y 1 0.228571429 ENSG00000140009 chr14:64235073-64235073;C/A missense_variant False ESR1@p.W292R 1 0.106060606 ENSG00000091831 chr6:151944286-151944286;T/C missense_variant False ESR1@p.K235N 1 0.144927536 ENSG00000091831 chr6:151880716-151880716;G/C missense_variant False ESR1@p.E589Q 1 0.68 ENSG00000091831 chr6:152098943-152098943;G/C missense_variant False ESR1@p.A361V 1 0.208791209 ENSG00000091831 chr6:151944494-151944494;C/T missense_variant False ESPNL@p.G984D 1 0.12 ENSG00000144488 chr2:238131665-238131665;G/A missense_variant False ESRRG@p.E364Q 1 0.264705882 ENSG00000196482 chr1:216519194-216519194;C/G missense_variant False ESPN@p.I469M 1 0.284090909 ENSG00000187017 chr1:6445878-6445878;C/G missense_variant False ESPL1@p.T1062A 1 0.354166667 ENSG00000135476 chr12:53284164-53284164;A/G missense_variant False ESPL1@p.S1936L 1 0.166666667 ENSG00000135476 chr12:53292288-53292288;C/T missense_variant False ESPL1@p.R551W 1 0.285714286 ENSG00000135476 chr12:53274961-53274961;C/T missense_variant False ESPL1@p.R133C 1 0.178571429 ENSG00000135476 chr12:53269339-53269339;C/T missense_variant False ESPL1@p.Q1852E 1 0.312267658 ENSG00000135476 chr12:53291723-53291723;C/G missense_variant False ESRP1@p.D515N 1 0.158878505 ENSG00000104413 chr8:94674398-94674398;G/A missense_variant False ESRP1@p.E163K 1 0.207792208 ENSG00000104413 chr8:94646279-94646279;G/A missense_variant False ESRP1@p.F133L 1 0.049382716 ENSG00000104413 chr8:94646191-94646191;C/A missense_variant False ESRP1@p.P554S 1 0.404761905 ENSG00000104413 chr8:94678211-94678211;C/T missense_variant False ESRP1@p.Q384H 1 0.476635514 ENSG00000104413 chr8:94668169-94668169;G/C missense_variant False ESRP1@p.R448H 1 0.106060606 ENSG00000104413 chr8:94671562-94671562;G/A missense_variant False ESRP1@p.S611L 1 0.155844156 ENSG00000104413 chr8:94692688-94692688;C/T missense_variant False ESRP2@p.A685P 1 0.296296296 ENSG00000103067 chr16:68230430-68230430;C/G missense_variant False ESRP2@p.E88Q 1 0.413793103 ENSG00000103067 chr16:68235699-68235699;C/G missense_variant False ESRP2@p.L445F 1 0.481481481 ENSG00000103067 chr16:68231689-68231689;C/G missense_variant False ESRP2@p.R137Q 1 0.347826087 ENSG00000103067 chr16:68234025-68234025;C/T missense_variant False ESRP2@p.S607Lfs*29 1 0.222222222 ENSG00000103067 chr16:68230951-68230951;G/- frameshift_variant False ESRRA@p.R153G 1 0.119402985 ENSG00000173153 chr11:64314253-64314253;C/G missense_variant False ESRRA@p.T227A 1 0.371428571 ENSG00000173153 chr11:64314848-64314848;A/G missense_variant False ESRRB@p.L164I 1 0.102941176 ENSG00000119715 chr14:76462637-76462637;C/A missense_variant False ESRRB@p.P60L 1 0.625 ENSG00000119715 chr14:76439532-76439532;C/T missense_variant False ESRRG@p.D254N 1 0.897959184 ENSG00000196482 chr1:216564321-216564321;C/T missense_variant False ETAA1@p.E887Q 1 0.060344828 ENSG00000143971 chr2:67409916-67409916;G/C missense_variant False ETAA1@p.E896K 1 0.430379747 ENSG00000143971 chr2:67409943-67409943;G/A missense_variant False ETAA1@p.K260N 1 0.140186916 ENSG00000143971 chr2:67403462-67403462;G/C missense_variant False ETV6@p.D432Rfs*13 1 0.258823529 ENSG00000139083 chr12:11890979-11890980;-/A frameshift_variant False ETV7@p.P341L 1 0.262068966 ENSG00000010030 chr6:36366649-36366649;G/A missense_variant False ETV6@p.S106C 1 0.380952381 ENSG00000139083 chr12:11839293-11839293;C/G missense_variant False ETV6@p.Q347E 1 0.191011236 ENSG00000139083 chr12:11884474-11884474;C/G missense_variant False ETV6@p.M420I 1 0.038888889 ENSG00000139083 chr12:11890947-11890947;G/T missense_variant False ETV6@p.H108Y 1 0.463768116 ENSG00000139083 chr12:11839298-11839298;C/T missense_variant False ETV6@p.E294K 1 0.116564417 ENSG00000139083 chr12:11869840-11869840;G/A missense_variant False ETV6@p.D351N 1 0.390625 ENSG00000139083 chr12:11884486-11884486;G/A missense_variant False ETV3L@p.P326S 1 0.438596491 ENSG00000253831 chr1:157092759-157092759;G/A missense_variant False ETV5@p.P85A 1 0.443349754 ENSG00000244405 chr3:186081155-186081155;G/C missense_variant False ETV5@p.E352Q 1 0.132867133 ENSG00000244405 chr3:186057230-186057230;C/G missense_variant False ETV5@p.E343Q 1 0.414322251 ENSG00000244405 chr3:186057435-186057435;C/G missense_variant False ETV4@p.R202W 1 0.2 ENSG00000175832 chr17:43532881-43532881;G/A missense_variant False ETV4@p.E203K 1 0.35483871 ENSG00000175832 chr17:43532878-43532878;C/T missense_variant False ETV4@p.D72N 1 0.391304348 ENSG00000175832 chr17:43536468-43536468;C/T missense_variant False EVA1A@p.S93F 1 0.26 ENSG00000115363 chr2:75493417-75493417;G/A missense_variant False EVA1B@p.R5Q 1 0.195652174 ENSG00000142694 chr1:36323024-36323024;C/T missense_variant False EVA1C@p.D291H 1 0.242424242 ENSG00000166979 chr21:32503937-32503937;G/C missense_variant False EVA1C@p.E124K 1 0.114285714 ENSG00000166979 chr21:32457609-32457609;G/A missense_variant False EVA1C@p.R231T 1 0.146067416 ENSG00000166979 chr21:32495084-32495084;G/C missense_variant False EVC2@p.D352N 1 0.296296296 ENSG00000173040 chr4:5663198-5663198;C/T missense_variant False EVC2@p.E1067K 1 0.226950355 ENSG00000173040 chr4:5576313-5576313;C/T missense_variant False EVC2@p.E1282D 1 0.462427746 ENSG00000173040 chr4:5562929-5562929;C/A missense_variant False EVC2@p.E494Q 1 0.14516129 ENSG00000173040 chr4:5632023-5632023;C/G missense_variant False EVC2@p.L724Q 1 0.464788732 ENSG00000173040 chr4:5622867-5622867;A/T missense_variant False EVC2@p.R1200P 1 0.069230769 ENSG00000173040 chr4:5565318-5565318;C/G missense_variant False EVC2@p.S1126L 1 0.368421053 ENSG00000173040 chr4:5568624-5568624;G/A missense_variant False EVC2@p.S1236Y 1 0.10483871 ENSG00000173040 chr4:5563068-5563068;G/T missense_variant False EVC2@p.S223W 1 0.215686275 ENSG00000173040 chr4:5689195-5689195;G/C missense_variant False EVC2@p.S976C 1 0.321428571 ENSG00000173040 chr4:5584753-5584753;G/C missense_variant False EVC@p.A352S 1 0.710526316 ENSG00000072840 chr4:5748262-5748262;G/T missense_variant False EVC@p.A368T 1 0.365217391 ENSG00000072840 chr4:5752839-5752839;G/A missense_variant False ETV3L@p.R135W 1 0.191011236 ENSG00000253831 chr1:157098789-157098789;G/A missense_variant False ETV3L@p.F119L 1 0.163366337 ENSG00000253831 chr1:157098835-157098835;G/C missense_variant False ETAA1@p.S270N 1 0.23880597 ENSG00000143971 chr2:67403491-67403491;G/A missense_variant False ETHE1@p.E115Q 1 0.462686567 ENSG00000105755 chr19:43526233-43526233;C/G missense_variant False ETNPPL@p.G484A 1 0.35 ENSG00000164089 chr4:108742533-108742533;C/G missense_variant False ETNPPL@p.D359N 1 0.24742268 ENSG00000164089 chr4:108748012-108748012;C/T missense_variant False ETNPPL@p.A385T 1 0.109375 ENSG00000164089 chr4:108746781-108746781;C/T missense_variant False ETNK2@p.D280N 1 0.227848101 ENSG00000143845 chr1:204140065-204140065;C/T missense_variant False ETNK1@p.H219R 1 0.189473684 ENSG00000139163 chr12:22661161-22661161;A/G missense_variant False ETNK1@p.E363Q 1 0.3125 ENSG00000139163 chr12:22684949-22684949;G/C missense_variant False ETFDH@p.V3L 1 0.333333333 ENSG00000171503 chr4:158672463-158672463;G/T missense_variant False ETV3@p.D21N 1 0.25 ENSG00000117036 chr1:157135694-157135694;C/T missense_variant False ETFDH@p.G480E 1 0.418181818 ENSG00000171503 chr4:158706342-158706342;G/A missense_variant False ETFBKMT@p.R115K 1 0.288888889 ENSG00000139160 chr12:31666116-31666116;G/A missense_variant False ETFBKMT@p.H232Y 1 0.348214286 ENSG00000139160 chr12:31667895-31667895;C/T missense_variant False ETFB@p.S223F 1 0.104347826 ENSG00000105379 chr19:51345311-51345311;G/A missense_variant False ETFB@p.G169V 1 0.214285714 ENSG00000105379 chr19:51346991-51346991;C/A missense_variant False ETF1@p.S141A 1 0.531914894 ENSG00000120705 chr5:138513688-138513688;A/C missense_variant False ETNPPL@p.R406T 1 0.189189189 ENSG00000164089 chr4:108746485-108746485;C/G missense_variant False ETNPPL@p.T489P 1 0.114864865 ENSG00000164089 chr4:108742519-108742519;T/G missense_variant False ETS1@p.D347N 1 0.422018349 ENSG00000134954 chr11:128463580-128463580;C/T missense_variant False ETS1@p.P49S 1 0.155172414 ENSG00000134954 chr11:128556360-128556360;G/A missense_variant False ETS1@p.Q47E 1 0.179487179 ENSG00000134954 chr11:128490520-128490520;G/C missense_variant False ETS1@p.S173L 1 0.141221374 ENSG00000134954 chr11:128485035-128485035;G/A missense_variant False ETS1@p.T241I 1 0.258426966 ENSG00000134954 chr11:128484831-128484831;G/A missense_variant False ETS2@p.F311Kfs*98 1 0.2 ENSG00000157557 chr21:38819617-38819629;CTTCCTTCGAGAG/- frameshift_variant False ETS2@p.L263F 1 0.154255319 ENSG00000157557 chr21:38818624-38818624;G/C missense_variant False ETS2@p.N17S 1 0.65 ENSG00000157557 chr21:38810084-38810084;A/G missense_variant False ETV1@p.E192Q 1 0.177777778 ENSG00000006468 chr7:13931730-13931730;C/G missense_variant False ETV1@p.E295Q 1 0.177777778 ENSG00000006468 chr7:13909689-13909689;C/G missense_variant False ETV1@p.E55Q 1 0.166666667 ENSG00000006468 chr7:13986656-13986656;C/G missense_variant False ETV1@p.P128L 1 0.491525424 ENSG00000006468 chr7:13935879-13935879;G/A missense_variant False ETV1@p.P171A 1 0.142241379 ENSG00000006468 chr7:13935751-13935751;G/C missense_variant False ETV1@p.R440H 1 0.344827586 ENSG00000006468 chr7:13895981-13895981;C/T missense_variant False ETV2@p.R286T 1 0.173913043 ENSG00000105672 chr19:35644680-35644680;G/C missense_variant False ESPL1@p.L984I 1 0.554140127 ENSG00000135476 chr12:53283411-53283411;C/A missense_variant False ESPL1@p.L912V 1 0.265957447 ENSG00000135476 chr12:53282378-53282378;C/G missense_variant False ESPL1@p.L880V 1 0.311111111 ENSG00000135476 chr12:53282282-53282282;C/G missense_variant False ERI3@p.I207V 1 0.906976744 ENSG00000117419 chr1:44313216-44313216;T/C missense_variant False ERICH3@p.A458S 1 0.144144144 ENSG00000178965 chr1:74606718-74606718;C/A missense_variant False ERICH3@p.A1244E 1 0.292307692 ENSG00000178965 chr1:74571979-74571979;G/T missense_variant False ERICH1@p.D330N 1 0.057971014 ENSG00000104714 chr8:673364-673364;C/T missense_variant False ERICH1@p.A377T 1 0.382978723 ENSG00000104714 chr8:668727-668727;C/T missense_variant False ERI3@p.P287S 1 0.411764706 ENSG00000117419 chr1:44248011-44248011;G/A missense_variant False ERI3@p.M294I 1 0.189655172 ENSG00000117419 chr1:44247988-44247988;C/G missense_variant False ERI3@p.G129D 1 0.073059361 ENSG00000117419 chr1:44339148-44339148;C/T missense_variant False ERGIC2@p.F311L 1 0.333333333 ENSG00000087502 chr12:29343175-29343175;G/C missense_variant False ERI3@p.F199L 1 0.136792453 ENSG00000117419 chr1:44319637-44319637;G/C missense_variant False ERI2@p.S115F 1 0.102272727 ENSG00000196678 chr16:20801319-20801319;G/A missense_variant False ERI2@p.A226D 1 0.134146341 ENSG00000196678 chr16:20799318-20799318;G/T missense_variant False ERI1@p.D63N 1 0.071428571 ENSG00000104626 chr8:9008048-9008048;G/A missense_variant False ERH@p.E89Q 1 0.318181818 ENSG00000100632 chr14:69380588-69380588;C/G missense_variant False ERH@p.D75H 1 0.301587302 ENSG00000100632 chr14:69380630-69380630;C/G missense_variant False ERICH3@p.D533N 1 0.327777778 ENSG00000178965 chr1:74599824-74599824;C/T missense_variant False ERICH3@p.D787V 1 0.972222222 ENSG00000178965 chr1:74573350-74573350;T/A missense_variant False ERICH3@p.E1101V 1 0.168539326 ENSG00000178965 chr1:74572408-74572408;T/A missense_variant False ERICH3@p.E1108K 1 0.376068376 ENSG00000178965 chr1:74572388-74572388;C/T missense_variant False ERICH3@p.E823V 1 0.134615385 ENSG00000178965 chr1:74573242-74573242;T/A missense_variant False ERICH3@p.G242E 1 0.151898734 ENSG00000178965 chr1:74631807-74631807;C/T missense_variant False ERICH3@p.G320V 1 0.3 ENSG00000178965 chr1:74620775-74620775;C/A missense_variant False ERICH3@p.H633D 1 0.090909091 ENSG00000178965 chr1:74589910-74589910;G/C missense_variant False ERICH3@p.P236A 1 0.08 ENSG00000178965 chr1:74631826-74631826;G/C missense_variant False ERICH3@p.P552L 1 0.286624204 ENSG00000178965 chr1:74599766-74599766;G/A missense_variant False ERICH3@p.P629A 1 0.044117647 ENSG00000178965 chr1:74589922-74589922;G/C missense_variant False ERICH3@p.Q223E 1 0.455555556 ENSG00000178965 chr1:74631865-74631865;G/C missense_variant False ERICH3@p.R1005W 1 0.408450704 ENSG00000178965 chr1:74572697-74572697;G/A missense_variant False ERICH3@p.S1009L 1 0.494505495 ENSG00000178965 chr1:74572684-74572684;G/A missense_variant False ERICH5@p.E242K 1 0.225806452 ENSG00000177459 chr8:98089741-98089741;G/A missense_variant False ERICH6@p.D370H 1 0.078947368 ENSG00000163645 chr3:150680471-150680471;C/G missense_variant False ERICH6@p.D394N 1 0.128571429 ENSG00000163645 chr3:150678486-150678486;C/T missense_variant False ERGIC2@p.V189Wfs*29 1 0.336842105 ENSG00000087502 chr12:29356390-29356390;T/- frameshift_variant False ERGIC2@p.E274K 1 0.135483871 ENSG00000087502 chr12:29345448-29345448;C/T missense_variant False ERICH6@p.R458P 1 0.463157895 ENSG00000163645 chr3:150669422-150669422;C/G missense_variant False ERCC6@p.E1351Q 1 0.257142857 ENSG00000225830 chr10:49460384-49460384;C/G missense_variant False ERCC6L2@p.E176Q 1 0.252631579 ENSG00000182150 chr9:95897903-95897903;G/C missense_variant False ERCC6L2@p.A1375T 1 0.15 ENSG00000182150 chr9:96012673-96012673;G/A missense_variant False ERCC6@p.S813F 1 0.451851852 ENSG00000225830 chr10:49474187-49474187;G/A missense_variant False ERCC6@p.S687W 1 0.342342342 ENSG00000225830 chr10:49482796-49482796;G/C missense_variant False ERCC6@p.L1091F 1 0.10989011 ENSG00000225830 chr10:49470687-49470687;C/G missense_variant False ERCC6@p.E771Q 1 0.205882353 ENSG00000225830 chr10:49476286-49476286;C/G missense_variant False ERCC6@p.D1442V 1 0.153846154 ENSG00000225830 chr10:49458972-49458972;T/A missense_variant False ERGIC1@p.S206F 1 0.3 ENSG00000113719 chr5:172932511-172932511;C/T missense_variant False ERCC6@p.C17Y 1 0.230769231 ENSG00000225830 chr10:49532915-49532915;C/T missense_variant False ERCC6@p.A64T 1 0.232142857 ENSG00000225830 chr10:49532775-49532775;C/T missense_variant False ERCC6@p.A1293T 1 0.418181818 ENSG00000225830 chr10:49461458-49461458;C/T missense_variant False ERCC5@p.I26N 1 0.090909091 ENSG00000134899 chr13:102846343-102846343;T/A missense_variant False ERCC4@p.M748V 1 0.245901639 ENSG00000175595 chr16:13947838-13947838;A/G missense_variant False ERCC4@p.E631Q 1 0.28125 ENSG00000175595 chr16:13937845-13937845;G/C missense_variant False ERCC6L2@p.E181K 1 0.049180328 ENSG00000182150 chr9:95897918-95897918;G/A missense_variant False ERCC6L@p.A319E 1 0.06 ENSG00000186871 chrX:72207811-72207811;G/T missense_variant False ERCC6L@p.D272H 1 0.14 ENSG00000186871 chrX:72207953-72207953;C/G missense_variant False ERCC6L@p.D388H 1 0.386138614 ENSG00000186871 chrX:72207605-72207605;C/G missense_variant False ERCC6L@p.P734H 1 0.270072993 ENSG00000186871 chrX:72206566-72206566;G/T missense_variant False ERCC6L@p.R59T 1 0.212121212 ENSG00000186871 chrX:72208591-72208591;C/G missense_variant False ERCC6L@p.S485T 1 0.15 ENSG00000186871 chrX:72207314-72207314;A/T missense_variant False ERCC6L@p.S738F 1 0.289855072 ENSG00000186871 chrX:72206554-72206554;G/A missense_variant False ERCC8@p.R19W 1 0.204081633 ENSG00000049167 chr5:60944954-60944954;G/A missense_variant False ERF@p.P212L 1 0.222222222 ENSG00000105722 chr19:42249477-42249477;G/A missense_variant False ERF@p.P22R 1 0.088888889 ENSG00000105722 chr19:42250523-42250523;G/C missense_variant False ERG@p.A430T 1 0.1875 ENSG00000157554 chr21:38383576-38383576;C/T missense_variant False ERG@p.E27Q 1 0.319444444 ENSG00000157554 chr21:38445582-38445582;C/G missense_variant False ERG@p.G401W 1 0.384210526 ENSG00000157554 chr21:38383663-38383663;C/A missense_variant False ERG@p.M385V 1 0.11 ENSG00000157554 chr21:38383711-38383711;T/C missense_variant False ERG@p.S420L 1 0.473333333 ENSG00000157554 chr21:38383605-38383605;G/A missense_variant False ERGIC1@p.D70N 1 0.336363636 ENSG00000113719 chr5:172909719-172909719;G/A missense_variant False ERICH6@p.L218S 1 0.478723404 ENSG00000163645 chr3:150685979-150685979;A/G missense_variant False ERLEC1@p.A253P 1 0.247311828 ENSG00000068912 chr2:53801720-53801720;G/C missense_variant False ESPL1@p.K1114M 1 0.216216216 ENSG00000135476 chr12:53286077-53286077;A/T missense_variant False ESCO1@p.R779C 1 0.067901235 ENSG00000141446 chr18:21532513-21532513;G/A missense_variant False ESF1@p.C234Y 1 0.349206349 ENSG00000089048 chr20:13776207-13776207;C/T missense_variant False ESD@p.E20K 1 0.612903226 ENSG00000139684 chr13:46791356-46791356;C/T missense_variant False ESD@p.E111K 1 0.2 ENSG00000139684 chr13:46782717-46782717;C/T missense_variant False ESCO2@p.D373H 1 0.104 ENSG00000171320 chr8:27787988-27787988;G/C missense_variant False ESCO2@p.D114N 1 0.771428571 ENSG00000171320 chr8:27776648-27776648;G/A missense_variant False ESCO1@p.T820A 1 0.882352941 ENSG00000141446 chr18:21530408-21530408;T/C missense_variant False ESCO1@p.Q353E 1 0.180851064 ENSG00000141446 chr18:21573787-21573787;G/C missense_variant False ERP44@p.E405K 1 0.083333333 ENSG00000023318 chr9:99982620-99982620;C/T missense_variant False ESAM@p.S338C 1 0.742857143 ENSG00000149564 chr11:124753806-124753806;G/C missense_variant False ERVW-1@p.G45R 1 0.409836066 ENSG00000242950 chr7:92470249-92470249;C/T missense_variant False ERVW-1@p.E126Q 1 0.40625 ENSG00000242950 chr7:92470006-92470006;C/G missense_variant False ERVW-1@p.D387Y 1 0.444444444 ENSG00000242950 chr7:92469223-92469223;C/A missense_variant False ERV3-1@p.G230S 1 0.307692308 ENSG00000213462 chr7:64992339-64992339;C/T missense_variant False ERRFI1@p.P239A 1 0.12 ENSG00000116285 chr1:8013884-8013884;G/C missense_variant False ESF1@p.D358H 1 0.114864865 ENSG00000089048 chr20:13775234-13775234;C/G missense_variant False ESF1@p.D35N 1 0.065934066 ENSG00000089048 chr20:13783038-13783038;C/T missense_variant False ESF1@p.D666H 1 0.181818182 ENSG00000089048 chr20:13728420-13728420;C/G missense_variant False ESF1@p.E182Q 1 0.207317073 ENSG00000089048 chr20:13782597-13782597;C/G missense_variant False ESF1@p.E547K 1 0.195652174 ENSG00000089048 chr20:13766804-13766804;C/T missense_variant False ESF1@p.E577K 1 0.315789474 ENSG00000089048 chr20:13759791-13759791;C/T missense_variant False ESF1@p.F372L 1 0.220338983 ENSG00000089048 chr20:13775192-13775192;A/G missense_variant False ESF1@p.K570E 1 0.44 ENSG00000089048 chr20:13759812-13759812;T/C missense_variant False ESF1@p.R342C 1 0.428571429 ENSG00000089048 chr20:13775884-13775884;G/A missense_variant False ESM1@p.R42C 1 0.204081633 ENSG00000164283 chr5:54985394-54985394;G/A missense_variant False ESM1@p.V176I 1 0.218487395 ENSG00000164283 chr5:54979361-54979361;C/T missense_variant False ESPL1@p.D1045N 1 0.259036145 ENSG00000135476 chr12:53284113-53284113;G/A missense_variant False ESPL1@p.E1038K 1 0.326164875 ENSG00000135476 chr12:53284092-53284092;G/A missense_variant False ESPL1@p.E1059Q 1 0.376470588 ENSG00000135476 chr12:53284155-53284155;G/C missense_variant False ESPL1@p.E1551D 1 0.166666667 ENSG00000135476 chr12:53288644-53288644;G/C missense_variant False ESPL1@p.E338K 1 0.397058824 ENSG00000135476 chr12:53269954-53269954;G/A missense_variant False ESPL1@p.E98D 1 0.197674419 ENSG00000135476 chr12:53269236-53269236;A/C missense_variant False ERP44@p.L16F 1 0.127659574 ENSG00000023318 chr9:100098795-100098795;G/A missense_variant False ERP44@p.E274Q 1 0.43902439 ENSG00000023318 chr9:100007632-100007632;C/G missense_variant False ERLEC1@p.D331N 1 0.192307692 ENSG00000068912 chr2:53808410-53808410;G/A missense_variant False ERMN@p.M170T 1 0.151624549 ENSG00000136541 chr2:157321617-157321617;A/G missense_variant False ERN2@p.A738T 1 0.136363636 ENSG00000134398 chr16:23692220-23692220;C/T missense_variant False ERN1@p.R864K 1 0.340909091 ENSG00000178607 chr17:64045421-64045421;C/T missense_variant False ERN1@p.R848T 1 0.352941176 ENSG00000178607 chr17:64045469-64045469;C/G missense_variant False ERN1@p.N357Gfs*3 1 0.166666667 ENSG00000178607 chr17:64063998-64064004;AGTAATT/- frameshift_variant False ERN1@p.E604K 1 0.5625 ENSG00000178607 chr17:64054393-64054393;C/T missense_variant False ERMP1@p.S326L 1 0.355555556 ENSG00000099219 chr9:5812933-5812933;G/A missense_variant False ERMARD@p.L156F 1 0.2734375 ENSG00000130023 chr6:169756767-169756767;C/T missense_variant False ERP29@p.R7C 1 0.324324324 ENSG00000089248 chr12:112013484-112013484;C/T missense_variant False ERMAP@p.E286Q 1 0.170886076 ENSG00000164010 chr1:42842660-42842660;G/C missense_variant False ERLIN2@p.P331L 1 0.260869565 ENSG00000147475 chr8:37754087-37754087;C/T missense_variant False ERLIN2@p.K72N 1 0.567567568 ENSG00000147475 chr8:37741798-37741798;G/C missense_variant False ERLIN2@p.G29Ifs*12 1 0.34 ENSG00000147475 chr8:37738007-37738010;GGAC/- frameshift_variant False ERLEC1@p.T230R 1 0.203389831 ENSG00000068912 chr2:53801560-53801560;C/G missense_variant False ERLEC1@p.H399D 1 0.538461538 ENSG00000068912 chr2:53813042-53813042;C/G missense_variant False ERN2@p.C117R 1 0.15625 ENSG00000134398 chr16:23707037-23707037;A/G missense_variant False ERN2@p.D649H 1 0.23943662 ENSG00000134398 chr16:23694883-23694883;C/G missense_variant False ERN2@p.P116T 1 0.318181818 ENSG00000134398 chr16:23707040-23707040;G/T missense_variant False ERN2@p.R345T 1 0.294444444 ENSG00000134398 chr16:23702437-23702437;C/G missense_variant False ERN2@p.R559W 1 0.285714286 ENSG00000134398 chr16:23695325-23695325;G/A missense_variant False ERN2@p.S718C 1 0.239130435 ENSG00000134398 chr16:23692279-23692279;G/C missense_variant False ERN2@p.V775L 1 0.334821429 ENSG00000134398 chr16:23692016-23692016;C/G missense_variant False ERO1A@p.D160N 1 0.392857143 ENSG00000197930 chr14:52671660-52671660;C/T missense_variant False ERO1A@p.E458Q 1 0.196078431 ENSG00000197930 chr14:52643605-52643605;C/G missense_variant False ERO1A@p.P355S 1 0.557377049 ENSG00000197930 chr14:52652301-52652301;G/A missense_variant False ERO1B@p.A263T 1 0.444444444 ENSG00000086619 chr1:236226665-236226665;C/T missense_variant False ERO1B@p.F246L 1 0.244444444 ENSG00000086619 chr1:236226714-236226714;G/C missense_variant False ERP29@p.D235H 1 0.456692913 ENSG00000089248 chr12:112022569-112022569;G/C missense_variant False ERP29@p.F118L 1 0.296296296 ENSG00000089248 chr12:112022220-112022220;C/G missense_variant False ERP29@p.K208N 1 0.264705882 ENSG00000089248 chr12:112022490-112022490;G/C missense_variant False ERP29@p.P27A 1 0.181818182 ENSG00000089248 chr12:112013544-112013544;C/G missense_variant False ERP29@p.P6L 1 0.178571429 ENSG00000089248 chr12:112013482-112013482;C/T missense_variant False EVC@p.D254N 1 0.235294118 ENSG00000072840 chr4:5741773-5741773;G/A missense_variant False EVC@p.R826Q 1 0.566371681 ENSG00000072840 chr4:5804757-5804757;G/A missense_variant False ERCC4@p.E210K 1 0.289855072 ENSG00000175595 chr16:13928071-13928071;G/A missense_variant False EYA1@p.D300H 1 0.459330144 ENSG00000104313 chr8:71271826-71271826;C/G missense_variant False EYA2@p.Q489H 1 0.063636364 ENSG00000064655 chr20:47183322-47183322;G/C missense_variant False EYA2@p.M311I 1 0.266666667 ENSG00000064655 chr20:47143103-47143103;G/C missense_variant False EYA2@p.E310Q 1 0.1 ENSG00000064655 chr20:47143098-47143098;G/C missense_variant False EYA2@p.E104K 1 0.490797546 ENSG00000064655 chr20:47016192-47016192;G/A missense_variant False EYA1@p.P261A 1 0.402777778 ENSG00000104313 chr8:71299092-71299092;G/C missense_variant False EYA1@p.E443Q 1 0.326530612 ENSG00000104313 chr8:71216725-71216725;C/G missense_variant False EXTL3@p.P248L 1 0.411764706 ENSG00000012232 chr8:28716802-28716802;C/T missense_variant False EYA2@p.T299A 1 0.222222222 ENSG00000064655 chr20:47143065-47143065;A/G missense_variant False EXTL3@p.L288F 1 0.078431373 ENSG00000012232 chr8:28716921-28716921;C/T missense_variant False EXTL3@p.K912N 1 0.111111111 ENSG00000012232 chr8:28750842-28750842;G/C missense_variant False EXTL3@p.I433M 1 0.276422764 ENSG00000012232 chr8:28717358-28717358;C/G missense_variant False EXTL3@p.E673K 1 0.061946903 ENSG00000012232 chr8:28718076-28718076;G/A missense_variant False EXTL2@p.R328T 1 0.104347826 ENSG00000162694 chr1:100873952-100873952;C/G missense_variant False EXTL2@p.G205R 1 0.052631579 ENSG00000162694 chr1:100874322-100874322;C/G missense_variant False EYA2@p.S230F 1 0.169811321 ENSG00000064655 chr20:47089266-47089266;C/T missense_variant False EYA3@p.D276H 1 0.509090909 ENSG00000158161 chr1:28011030-28011030;C/G missense_variant False EVC@p.V147I 1 0.116504854 ENSG00000072840 chr4:5731479-5731479;G/A missense_variant False EYS@p.K65N 1 0.458333333 ENSG00000188107 chr6:65495216-65495216;T/G missense_variant False EYS@p.R551W 1 0.134453782 ENSG00000188107 chr6:65335095-65335095;G/A missense_variant False EYS@p.Q175P 1 0.161290323 ENSG00000188107 chr6:65494887-65494887;T/G missense_variant False EYS@p.P474L 1 0.456790123 ENSG00000188107 chr6:65353496-65353496;G/A missense_variant False EYS@p.N137K 1 0.238095238 ENSG00000188107 chr6:65495000-65495000;A/T missense_variant False EYS@p.M355V 1 0.291666667 ENSG00000188107 chr6:65402599-65402599;T/C missense_variant False EYS@p.L448Ffs*25 1 0.215384615 ENSG00000188107 chr6:65353573-65353574;-/A frameshift_variant False EYS@p.E509K 1 0.340909091 ENSG00000188107 chr6:65344112-65344112;C/T missense_variant False EYA3@p.M127I 1 0.225806452 ENSG00000158161 chr1:28027907-28027907;C/T missense_variant False EYA4@p.S221Vfs*74 1 0.333333333 ENSG00000112319 chr6:133462701-133462701;A/- frameshift_variant False EYA4@p.P271R 1 0.083333333 ENSG00000112319 chr6:133468573-133468573;C/G missense_variant False EYA4@p.M484I 1 0.222222222 ENSG00000112319 chr6:133512971-133512971;G/A missense_variant False EYA4@p.L83P 1 0.388235294 ENSG00000112319 chr6:133448150-133448150;T/C missense_variant False EYA4@p.D373N 1 0.118811881 ENSG00000112319 chr6:133481591-133481591;G/A missense_variant False EYA4@p.D34N 1 0.063829787 ENSG00000112319 chr6:133446646-133446646;G/A missense_variant False EXTL2@p.E196Q 1 0.35443038 ENSG00000162694 chr1:100874349-100874349;C/G missense_variant False EXTL2@p.E140K 1 0.208955224 ENSG00000162694 chr1:100877491-100877491;C/T missense_variant False EXTL1@p.R39Q 1 0.164383562 ENSG00000158008 chr1:26022762-26022762;G/A missense_variant False EXPH5@p.E709K 1 0.294871795 ENSG00000110723 chr11:108513382-108513382;C/T missense_variant False EXPH5@p.R1111T 1 0.193548387 ENSG00000110723 chr11:108512175-108512175;C/G missense_variant False EXPH5@p.R1024T 1 0.489361702 ENSG00000110723 chr11:108512436-108512436;C/G missense_variant False EXPH5@p.L683V 1 0.296 ENSG00000110723 chr11:108513460-108513460;G/C missense_variant False EXPH5@p.G1635R 1 0.097560976 ENSG00000110723 chr11:108510604-108510604;C/G missense_variant False EXPH5@p.G1135V 1 0.069444444 ENSG00000110723 chr11:108512103-108512103;C/A missense_variant False EXPH5@p.F1332L 1 0.319587629 ENSG00000110723 chr11:108511511-108511511;G/C missense_variant False EXPH5@p.E16K 1 0.305418719 ENSG00000110723 chr11:108593491-108593491;C/T missense_variant False EXTL1@p.L366V 1 0.139534884 ENSG00000158008 chr1:26030590-26030590;C/G missense_variant False EXPH5@p.E1531D 1 0.142857143 ENSG00000110723 chr11:108510914-108510914;C/G missense_variant False EXPH5@p.D777V 1 0.405660377 ENSG00000110723 chr11:108513177-108513177;T/A missense_variant False EXPH5@p.D1557H 1 0.147887324 ENSG00000110723 chr11:108510838-108510838;C/G missense_variant False EXOSC9@p.S195N 1 0.112149533 ENSG00000123737 chr4:121807601-121807601;G/A missense_variant False EXOSC9@p.I35F 1 0.388888889 ENSG00000123737 chr4:121801863-121801863;A/T missense_variant False EXOSC9@p.E81K 1 0.138888889 ENSG00000123737 chr4:121802753-121802753;G/A missense_variant False EXPH5@p.R638K 1 0.138613861 ENSG00000110723 chr11:108513594-108513594;C/T missense_variant False EXPH5@p.S1236F 1 0.240506329 ENSG00000110723 chr11:108511800-108511800;G/A missense_variant False EXPH5@p.S1711L 1 0.276595745 ENSG00000110723 chr11:108510375-108510375;G/A missense_variant False EXPH5@p.S379C 1 0.242774566 ENSG00000110723 chr11:108514371-108514371;G/C missense_variant False EXPH5@p.S379F 1 0.653846154 ENSG00000110723 chr11:108514371-108514371;G/A missense_variant False EXPH5@p.S532L 1 0.333333333 ENSG00000110723 chr11:108513912-108513912;G/A missense_variant False EXPH5@p.S615Y 1 0.338235294 ENSG00000110723 chr11:108513663-108513663;G/T missense_variant False EXPH5@p.S736L 1 0.182926829 ENSG00000110723 chr11:108513300-108513300;G/A missense_variant False EXT1@p.D164A 1 0.641509434 ENSG00000182197 chr8:118110556-118110556;T/G missense_variant False EXT1@p.G622A 1 0.218181818 ENSG00000182197 chr8:117807235-117807235;C/G missense_variant False EXT1@p.M215Kfs*7 1 0.244897959 ENSG00000182197 chr8:118110377-118110405;CAGTACTGATGCTGGCTTTGGCCAGCATC/- frameshift_variant False EXT1@p.R99C 1 0.14893617 ENSG00000182197 chr8:118110752-118110752;G/A missense_variant False EXT1@p.S90Y 1 0.219047619 ENSG00000182197 chr8:118110778-118110778;G/T missense_variant False EXT1@p.T392I 1 0.380952381 ENSG00000182197 chr8:117830339-117830339;G/A missense_variant False EXT1@p.Y678F 1 0.35106383 ENSG00000182197 chr8:117804744-117804744;T/A missense_variant False EXT2@p.E498K 1 0.15 ENSG00000151348 chr11:44198015-44198015;G/A missense_variant False EXTL1@p.G223R 1 0.181818182 ENSG00000158008 chr1:26023313-26023313;G/A missense_variant False EYS@p.S69L 1 0.141414141 ENSG00000188107 chr6:65495205-65495205;G/A missense_variant False EYS@p.S91Y 1 0.5 ENSG00000188107 chr6:65495139-65495139;G/T missense_variant False EYS@p.V514M 1 0.378378378 ENSG00000188107 chr6:65344097-65344097;C/T missense_variant False F13A1@p.R304Q 1 0.333333333 ENSG00000124491 chr6:6224748-6224748;C/T missense_variant False F13B@p.T322A 1 0.194029851 ENSG00000143278 chr1:197057307-197057307;T/C missense_variant False F13B@p.S142F 1 0.405405405 ENSG00000143278 chr1:197061810-197061810;G/A missense_variant False F13B@p.Q229H 1 0.295918367 ENSG00000143278 chr1:197060484-197060484;T/G missense_variant False F13B@p.P527S 1 0.421052632 ENSG00000143278 chr1:197050856-197050856;G/A missense_variant False F13B@p.P144L 1 0.082191781 ENSG00000143278 chr1:197061804-197061804;G/A missense_variant False F13B@p.G33V 1 0.223809524 ENSG00000143278 chr1:197063024-197063024;C/A missense_variant False F13A1@p.N655T 1 0.648648649 ENSG00000124491 chr6:6151894-6151894;T/G missense_variant False F12@p.E570Q 1 0.088235294 ENSG00000131187 chr5:177402432-177402432;C/G missense_variant False F13A1@p.K505E 1 0.135416667 ENSG00000124491 chr6:6174814-6174814;T/C missense_variant False F13A1@p.E632K 1 0.228070175 ENSG00000124491 chr6:6167472-6167472;C/T missense_variant False F13A1@p.E601K 1 0.130434783 ENSG00000124491 chr6:6167565-6167565;C/T missense_variant False F13A1@p.A246V 1 0.303030303 ENSG00000124491 chr6:6248373-6248373;G/A missense_variant False F12@p.S234L 1 0.363636364 ENSG00000131187 chr5:177404598-177404598;G/A missense_variant False F12@p.H59Y 1 0.23030303 ENSG00000131187 chr5:177406002-177406002;G/A missense_variant False F2@p.E352Q 1 0.106666667 ENSG00000180210 chr11:46726761-46726761;G/C missense_variant False F2@p.R217W 1 0.15625 ENSG00000180210 chr11:46725948-46725948;C/T missense_variant False F2R@p.I293M 1 0.050314465 ENSG00000181104 chr5:76733104-76733104;C/G missense_variant False F2R@p.S306I 1 0.46031746 ENSG00000181104 chr5:76733142-76733142;G/T missense_variant False F2RL1@p.D350H 1 0.709677419 ENSG00000164251 chr5:76833655-76833655;G/C missense_variant False F2RL1@p.F155L 1 0.277777778 ENSG00000164251 chr5:76833072-76833072;C/G missense_variant False F2RL1@p.M166I 1 0.198019802 ENSG00000164251 chr5:76833105-76833105;G/A missense_variant False F2RL1@p.S387F 1 0.210526316 ENSG00000164251 chr5:76833767-76833767;C/T missense_variant False F2RL1@p.S60C 1 0.309090909 ENSG00000164251 chr5:76832786-76832786;C/G missense_variant False F2RL2@p.N157K 1 0.769230769 ENSG00000164220 chr5:76618236-76618236;G/T missense_variant False F2RL2@p.N158K 1 0.447368421 ENSG00000164220 chr5:76618233-76618233;G/T missense_variant False F2RL3@p.D224V 1 0.260869565 ENSG00000127533 chr19:16890134-16890134;A/T missense_variant False F2RL3@p.D224Y 1 0.272727273 ENSG00000127533 chr19:16890133-16890133;G/T missense_variant False F2RL3@p.R225H 1 0.263157895 ENSG00000127533 chr19:16890137-16890137;G/A missense_variant False F3@p.L274V 1 0.153846154 ENSG00000117525 chr1:94530528-94530528;G/C missense_variant False F5@p.A1111T 1 0.386363636 ENSG00000198734 chr1:169541759-169541759;C/T missense_variant False F5@p.D1654N 1 0.147058824 ENSG00000198734 chr1:169536517-169536517;C/T missense_variant False F12@p.H412Y 1 0.25 ENSG00000131187 chr5:177403875-177403875;G/A missense_variant False F11R@p.V124I 1 0.340206186 ENSG00000158769 chr1:161000649-161000649;C/T missense_variant False EZH1@p.E385Q 1 0.128712871 ENSG00000108799 chr17:42713260-42713260;C/G missense_variant False EZHIP@p.E108K 1 0.608695652 ENSG00000187690 chrX:51407338-51407338;G/A missense_variant False EZR@p.G109R 1 0.103448276 ENSG00000092820 chr6:158785451-158785451;C/G missense_variant False EZR@p.E556K 1 0.404761905 ENSG00000092820 chr6:158767009-158767009;C/T missense_variant False EZR@p.E17Q 1 0.461538462 ENSG00000092820 chr6:158789335-158789335;C/G missense_variant False EZR@p.D353N 1 0.110091743 ENSG00000092820 chr6:158770797-158770797;C/T missense_variant False EZHIP@p.S363Y 1 0.371428571 ENSG00000187690 chrX:51408104-51408104;C/A missense_variant False EZHIP@p.G415R 1 0.225806452 ENSG00000187690 chrX:51408259-51408259;G/A missense_variant False EZHIP@p.A318V 1 0.888888889 ENSG00000187690 chrX:51407969-51407969;C/T missense_variant False F11R@p.S23F 1 0.153846154 ENSG00000158769 chr1:161001350-161001350;G/A missense_variant False EZH2@p.S271Y 1 0.301886792 ENSG00000106462 chr7:148826549-148826549;G/T missense_variant True EZH2@p.P558A 1 0.243589744 ENSG00000106462 chr7:148814123-148814123;G/C missense_variant True EZH2@p.F667L 1 0.113207547 ENSG00000106462 chr7:148810346-148810346;G/C missense_variant True EZH2@p.F145Y 1 0.147058824 ENSG00000106462 chr7:148829778-148829778;A/T missense_variant True EZH1@p.T335A 1 0.175 ENSG00000108799 chr17:42717996-42717996;T/C missense_variant False EZH1@p.Q541H 1 0.554216867 ENSG00000108799 chr17:42707995-42707995;C/G missense_variant False EZR@p.K359N 1 0.05 ENSG00000092820 chr6:158770777-158770777;C/G missense_variant False EZR@p.P471Rfs*11 1 0.213930348 ENSG00000092820 chr6:158767445-158767445;G/- frameshift_variant False EZR@p.Q196K 1 0.078740157 ENSG00000092820 chr6:158783632-158783632;G/T missense_variant False F10@p.E226K 1 0.17721519 ENSG00000126218 chr13:113144024-113144024;G/A missense_variant False F10@p.G263V 1 0.228070175 ENSG00000126218 chr13:113147419-113147419;G/T missense_variant False F10@p.T358M 1 0.256410256 ENSG00000126218 chr13:113149123-113149123;C/T missense_variant False F11@p.C346Y 1 0.191489362 ENSG00000088926 chr4:186280482-186280482;G/A missense_variant False F11@p.D212N 1 0.118421053 ENSG00000088926 chr4:186276269-186276269;G/A missense_variant False F11@p.D216E 1 0.093023256 ENSG00000088926 chr4:186276283-186276283;C/G missense_variant False F11@p.E305K 1 0.073170732 ENSG00000088926 chr4:186280270-186280270;G/A missense_variant False F11@p.E453Q 1 0.206349206 ENSG00000088926 chr4:186285690-186285690;G/C missense_variant False F11@p.G591S 1 0.4125 ENSG00000088926 chr4:186288507-186288507;G/A missense_variant False F11@p.I107V 1 0.75 ENSG00000088926 chr4:186273171-186273171;A/G missense_variant False F11@p.Q251E 1 0.461538462 ENSG00000088926 chr4:186276386-186276386;C/G missense_variant False F11@p.R326C 1 0.091954023 ENSG00000088926 chr4:186280333-186280333;C/T missense_variant False F11@p.S575L 1 0.258064516 ENSG00000088926 chr4:186288460-186288460;C/T missense_variant False F11R@p.S186C 1 0.348684211 ENSG00000158769 chr1:161000180-161000180;G/C missense_variant False EXOSC9@p.E359K 1 0.253623188 ENSG00000123737 chr4:121813966-121813966;G/A missense_variant False EXOSC9@p.D393H 1 0.280701754 ENSG00000123737 chr4:121816389-121816389;G/C missense_variant False EXOSC9@p.A285T 1 0.089552239 ENSG00000123737 chr4:121813259-121813259;G/A missense_variant False EXD3@p.E167V 1 0.056603774 ENSG00000187609 chr9:137367952-137367952;T/A missense_variant False EXO1@p.L410F 1 0.32 ENSG00000174371 chr1:241867016-241867016;C/T missense_variant False EXO1@p.I789M 1 0.18852459 ENSG00000174371 chr1:241885469-241885469;C/G missense_variant False EXD3@p.P6S 1 0.166666667 ENSG00000187609 chr9:137395342-137395342;G/A missense_variant False EXD3@p.L655P 1 0.428571429 ENSG00000187609 chr9:137348105-137348105;A/G missense_variant False EXD3@p.G656R 1 0.333333333 ENSG00000187609 chr9:137348103-137348103;C/G missense_variant False EXD3@p.G656C 1 0.186046512 ENSG00000187609 chr9:137348103-137348103;C/A missense_variant False EXD1@p.F360V 1 0.47972973 ENSG00000178997 chr15:41184398-41184398;A/C missense_variant False EVX2@p.M241I 1 0.255813953 ENSG00000174279 chr2:176080815-176080815;C/T missense_variant False EXD1@p.A253T 1 0.745098039 ENSG00000178997 chr15:41190062-41190062;C/T missense_variant False EWSR1@p.R563C 1 0.1 ENSG00000182944 chr22:29299607-29299607;C/T missense_variant False EWSR1@p.R503W 1 0.403846154 ENSG00000182944 chr22:29298822-29298822;C/T missense_variant False EWSR1@p.R464T 1 0.231884058 ENSG00000182944 chr22:29297923-29297923;G/C missense_variant False EWSR1@p.R461C 1 0.16 ENSG00000182944 chr22:29297913-29297913;C/T missense_variant False EWSR1@p.D308N 1 0.2 ENSG00000182944 chr22:29288734-29288734;G/A missense_variant False EXO1@p.Q362E 1 0.319444444 ENSG00000174371 chr1:241866872-241866872;C/G missense_variant False EXO1@p.S700F 1 0.242424242 ENSG00000174371 chr1:241879333-241879333;C/T missense_variant False EXO1@p.V817G 1 0.247311828 ENSG00000174371 chr1:241889509-241889509;T/G missense_variant False EXO5@p.D288Y 1 0.050228311 ENSG00000164002 chr1:40515406-40515406;G/T missense_variant False EXO5@p.D336E 1 0.128205128 ENSG00000164002 chr1:40515552-40515552;C/A missense_variant False EXO5@p.P367A 1 0.538461538 ENSG00000164002 chr1:40515643-40515643;C/G missense_variant False EXO5@p.V337L 1 0.138888889 ENSG00000164002 chr1:40515553-40515553;G/T missense_variant False EXOC1@p.A803T 1 0.298701299 ENSG00000090989 chr4:55902413-55902413;G/A missense_variant False EXOC1@p.G818E 1 0.169491525 ENSG00000090989 chr4:55902459-55902459;G/A missense_variant False EXOC1@p.I4M 1 0.23655914 ENSG00000090989 chr4:55858335-55858335;C/G missense_variant False EXOC1@p.K430N 1 0.480769231 ENSG00000090989 chr4:55883888-55883888;G/C missense_variant False EXOC1@p.R194T 1 0.144736842 ENSG00000090989 chr4:55868501-55868501;G/C missense_variant False EXOC1@p.R742Q 1 0.274725275 ENSG00000090989 chr4:55899772-55899772;G/A missense_variant False EXOC2@p.D702H 1 0.113924051 ENSG00000112685 chr6:553871-553871;C/G missense_variant False EXOC2@p.D892Y 1 0.663829787 ENSG00000112685 chr6:488986-488986;C/A missense_variant False EXOC2@p.E490K 1 0.484848485 ENSG00000112685 chr6:564905-564905;C/T missense_variant False EXOC2@p.L382V 1 0.117647059 ENSG00000112685 chr6:592517-592517;G/C missense_variant False EWSR1@p.D298H 1 0.168539326 ENSG00000182944 chr22:29288704-29288704;G/C missense_variant False EVX1@p.K22N 1 0.357142857 ENSG00000106038 chr7:27243096-27243096;G/C missense_variant False EXOC2@p.N293S 1 0.197452229 ENSG00000112685 chr6:599090-599090;T/C missense_variant False EVI5@p.E752K 1 0.18 ENSG00000067208 chr1:92513835-92513835;C/T missense_variant False EVI5L@p.D759N 1 0.379310345 ENSG00000142459 chr19:7863592-7863592;G/A missense_variant False EVI5@p.S29Y 1 0.324675325 ENSG00000067208 chr1:92736593-92736593;G/T missense_variant False EVI5@p.S121L 1 0.071428571 ENSG00000067208 chr1:92704664-92704664;G/A missense_variant False EVI5@p.S115F 1 0.244444444 ENSG00000067208 chr1:92704682-92704682;G/A missense_variant False EVI5@p.Q245E 1 0.1 ENSG00000067208 chr1:92702179-92702179;G/C missense_variant False EVI5@p.E777Q 1 0.439716312 ENSG00000067208 chr1:92513760-92513760;C/G missense_variant False EVI5@p.E510K 1 0.392405063 ENSG00000067208 chr1:92625886-92625886;C/T missense_variant False EVX1@p.E147K 1 0.213483146 ENSG00000106038 chr7:27245059-27245059;G/A missense_variant False EVI2B@p.S88C 1 0.268181818 ENSG00000185862 chr17:31305347-31305347;G/C missense_variant False EVI2B@p.Q148E 1 0.204778157 ENSG00000185862 chr17:31305168-31305168;G/C missense_variant False EVI2B@p.L216F 1 0.251028807 ENSG00000185862 chr17:31304962-31304962;C/G missense_variant False EVI2A@p.L166V 1 0.441558442 ENSG00000126860 chr17:31318518-31318518;G/C missense_variant False EVI2A@p.L154V 1 0.354166667 ENSG00000126860 chr17:31318554-31318554;G/C missense_variant False EVC@p.V779I 1 0.2 ENSG00000072840 chr4:5801980-5801980;G/A missense_variant False EVI5L@p.E587Q 1 0.1875 ENSG00000142459 chr19:7862269-7862269;G/C missense_variant False EVI5L@p.E603Q 1 0.222222222 ENSG00000142459 chr19:7862427-7862427;G/C missense_variant False EVI5L@p.K371N 1 0.296296296 ENSG00000142459 chr19:7853300-7853300;G/C missense_variant False EVI5L@p.Q338H 1 0.044554455 ENSG00000142459 chr19:7853112-7853112;G/C missense_variant False EVL@p.E154K 1 0.508474576 ENSG00000196405 chr14:100126750-100126750;G/A missense_variant False EVL@p.E154Q 1 0.06185567 ENSG00000196405 chr14:100126750-100126750;G/C missense_variant False EVL@p.K287M 1 0.322033898 ENSG00000196405 chr14:100132745-100132745;A/T missense_variant False EVL@p.R257Q 1 0.676056338 ENSG00000196405 chr14:100129621-100129621;G/A missense_variant False EVPL@p.D1396H 1 0.272151899 ENSG00000167880 chr17:76009019-76009019;C/G missense_variant False EVPL@p.D778Y 1 0.355555556 ENSG00000167880 chr17:76014467-76014467;C/A missense_variant False EVPL@p.E1160K 1 0.12244898 ENSG00000167880 chr17:76009727-76009727;C/T missense_variant False EVPL@p.G1147R 1 0.366336634 ENSG00000167880 chr17:76009766-76009766;C/T missense_variant False EVPL@p.N1278K 1 0.263736264 ENSG00000167880 chr17:76009371-76009371;G/C missense_variant False EVPL@p.Q1582H 1 0.142857143 ENSG00000167880 chr17:76008459-76008459;C/G missense_variant False EVPL@p.R1874H 1 0.5125 ENSG00000167880 chr17:76007584-76007584;C/T missense_variant False EVPL@p.S1759C 1 0.090909091 ENSG00000167880 chr17:76007929-76007929;G/C missense_variant False EVX1@p.A297T 1 0.227272727 ENSG00000106038 chr7:27246090-27246090;G/A missense_variant False EXOC2@p.L384V 1 0.082474227 ENSG00000112685 chr6:592511-592511;G/C missense_variant False EXOC3@p.A265Ifs*17 1 0.219512195 ENSG00000180104 chr5:453795-453798;CAGG/- frameshift_variant False EXOSC9@p.A17T 1 0.442477876 ENSG00000123737 chr4:121801473-121801473;G/A missense_variant False EXOSC10@p.E229K 1 0.325 ENSG00000171824 chr1:11090627-11090627;C/T missense_variant False EXOSC10@p.R522H 1 0.259259259 ENSG00000171824 chr1:11080785-11080785;C/T missense_variant False EXOSC10@p.R182Q 1 0.155913978 ENSG00000171824 chr1:11091112-11091112;C/T missense_variant False EXOSC10@p.N460Qfs*30 1 0.168067227 ENSG00000171824 chr1:11081142-11081143;-/C frameshift_variant False EXOSC10@p.L512Qfs*17 1 0.258333333 ENSG00000171824 chr1:11080791-11080815;GTTTTATCCCTCCAGGCAAACAGCA/- frameshift_variant False EXOSC10@p.K857N 1 0.131313131 ENSG00000171824 chr1:11068064-11068064;T/A missense_variant False EXOSC10@p.F172L 1 0.414893617 ENSG00000171824 chr1:11091141-11091141;G/T missense_variant False EXOSC10@p.E105K 1 0.25974026 ENSG00000171824 chr1:11095817-11095817;C/T missense_variant False EXOC8@p.E155K 1 0.351351351 ENSG00000116903 chr1:231337283-231337283;C/T missense_variant False EXOG@p.G23E 1 0.193548387 ENSG00000157036 chr3:38496435-38496435;G/A missense_variant False EXOC8@p.S32W 1 0.150943396 ENSG00000116903 chr1:231337651-231337651;G/C missense_variant False EXOC8@p.E690D 1 0.198924731 ENSG00000116903 chr1:231335676-231335676;C/G missense_variant False EXOC8@p.E630K 1 0.122222222 ENSG00000116903 chr1:231335858-231335858;C/T missense_variant False EXOC8@p.E318K 1 0.398496241 ENSG00000116903 chr1:231336794-231336794;C/T missense_variant False EXOC8@p.E23Q 1 0.233128834 ENSG00000116903 chr1:231337679-231337679;C/G missense_variant False EXOSC10@p.R798Q 1 0.123032904 ENSG00000171824 chr1:11069654-11069654;C/T missense_variant False EXOSC10@p.V298M 1 0.459854015 ENSG00000171824 chr1:11087853-11087853;C/T missense_variant False EXOSC1@p.E117Q 1 0.323076923 ENSG00000171311 chr10:97437747-97437747;C/G missense_variant False EXOSC1@p.S35L 1 0.305084746 ENSG00000171311 chr10:97445775-97445775;G/A missense_variant False EXOSC2@p.A10V 1 0.184210526 ENSG00000130713 chr9:130693820-130693820;C/T missense_variant False EXOSC2@p.R62T 1 0.310810811 ENSG00000130713 chr9:130695554-130695554;G/C missense_variant False EXOSC4@p.R62L 1 0.225274725 ENSG00000178896 chr8:144079956-144079956;G/T missense_variant False EXOSC4@p.S78L 1 0.420875421 ENSG00000178896 chr8:144080004-144080004;C/T missense_variant False EXOSC5@p.D162N 1 0.225806452 ENSG00000077348 chr19:41389806-41389806;C/T missense_variant False EXOSC5@p.D8Y 1 0.382978723 ENSG00000077348 chr19:41397307-41397307;C/A missense_variant False EXOSC5@p.E34K 1 0.224299065 ENSG00000077348 chr19:41397229-41397229;C/T missense_variant False EXOSC5@p.S217W 1 0.3125 ENSG00000077348 chr19:41386691-41386691;G/C missense_variant False EXOSC6@p.A269S 1 0.466666667 ENSG00000223496 chr16:70251096-70251096;C/A missense_variant False EXOSC7@p.Q271H 1 0.12 ENSG00000075914 chr3:45011276-45011276;G/C missense_variant False EXOSC7@p.T108I 1 0.381578947 ENSG00000075914 chr3:44997155-44997155;C/T missense_variant False EXOSC8@p.Q120E 1 0.235294118 ENSG00000120699 chr13:37006128-37006128;C/G missense_variant False EXOSC8@p.S197F 1 0.290598291 ENSG00000120699 chr13:37008159-37008159;C/T missense_variant False EXOC8@p.E23K 1 0.211538462 ENSG00000116903 chr1:231337679-231337679;C/T missense_variant False EXOC7@p.I88V 1 0.106951872 ENSG00000182473 chr17:76101728-76101728;T/C missense_variant False EXOC3@p.D223N 1 0.30952381 ENSG00000180104 chr5:453672-453672;G/A missense_variant False EXOC3L4@p.L651V 1 0.131578947 ENSG00000205436 chr14:103108492-103108492;C/G missense_variant False EXOC4@p.L393V 1 0.363636364 ENSG00000131558 chr7:133374997-133374997;C/G missense_variant False EXOC4@p.I756F 1 0.378378378 ENSG00000131558 chr7:133997551-133997551;A/T missense_variant False EXOC4@p.F487L 1 0.611940299 ENSG00000131558 chr7:133630086-133630086;T/C missense_variant False EXOC4@p.E954Q 1 0.25 ENSG00000131558 chr7:134064463-134064463;G/C missense_variant False EXOC4@p.E842K 1 0.693069307 ENSG00000131558 chr7:134005087-134005087;G/A missense_variant False EXOC4@p.E526Q 1 0.363636364 ENSG00000131558 chr7:133817386-133817386;G/C missense_variant False EXOC3L4@p.E150K 1 0.5 ENSG00000205436 chr14:103102171-103102171;G/A missense_variant False EXOC7@p.E111Q 1 0.455223881 ENSG00000182473 chr17:76101357-76101357;C/G missense_variant False EXOC3L4@p.E105K 1 0.19047619 ENSG00000205436 chr14:103100532-103100532;G/A missense_variant False EXOC3L4@p.D643Y 1 0.052287582 ENSG00000205436 chr14:103108468-103108468;G/T missense_variant False EXOC3L2@p.R748G 1 0.227272727 ENSG00000283632 chr19:45213236-45213236;G/C missense_variant False EXOC3L2@p.E740K 1 0.136363636 ENSG00000283632 chr19:45213260-45213260;C/T missense_variant False EXOC3L1@p.A336D 1 0.125 ENSG00000179044 chr16:67187258-67187258;G/T missense_variant False EXOC3@p.P522A 1 0.149758454 ENSG00000180104 chr5:462218-462218;C/G missense_variant False EXOC4@p.Q139E 1 0.166666667 ENSG00000131558 chr7:133289060-133289060;C/G missense_variant False EXOC4@p.R702L 1 0.115789474 ENSG00000131558 chr7:133937968-133937968;G/T missense_variant False EXOC4@p.W115C 1 0.301587302 ENSG00000131558 chr7:133288990-133288990;G/T missense_variant False EXOC4@p.Y465N 1 0.344827586 ENSG00000131558 chr7:133480114-133480114;T/A missense_variant False EXOC5@p.F150V 1 0.302325581 ENSG00000070367 chr14:57244182-57244182;A/C missense_variant False EXOC5@p.N567S 1 0.3125 ENSG00000070367 chr14:57209975-57209975;T/C missense_variant False EXOC5@p.R256T 1 0.362318841 ENSG00000070367 chr14:57233831-57233831;C/G missense_variant False EXOC6@p.D676G 1 0.132075472 ENSG00000138190 chr10:92997547-92997547;A/G missense_variant False EXOC6@p.D739N 1 0.479452055 ENSG00000138190 chr10:93056969-93056969;G/A missense_variant False EXOC6@p.E441K 1 0.529411765 ENSG00000138190 chr10:92948284-92948284;G/A missense_variant False EXOC6@p.E678D 1 0.104166667 ENSG00000138190 chr10:92997554-92997554;G/C missense_variant False EXOC6@p.T511A 1 0.166666667 ENSG00000138190 chr10:92954634-92954634;A/G missense_variant False EXOC6B@p.E65K 1 0.111940299 ENSG00000144036 chr2:72741390-72741390;C/T missense_variant False EXOC6B@p.L679F 1 0.342105263 ENSG00000144036 chr2:72379814-72379814;C/G missense_variant False EXOC7@p.D228N 1 0.303797468 ENSG00000182473 chr17:76094540-76094540;C/T missense_variant False EXOC7@p.D358Y 1 0.381818182 ENSG00000182473 chr17:76089303-76089303;C/A missense_variant False EXOC7@p.D96N 1 0.486842105 ENSG00000182473 chr17:76101704-76101704;C/T missense_variant False ERCC4@p.E441K 1 0.561797753 ENSG00000175595 chr16:13935253-13935253;G/A missense_variant False ERCC4@p.A906P 1 0.378947368 ENSG00000175595 chr16:13948312-13948312;G/C missense_variant False ENPP1@p.Y466C 1 0.853932584 ENSG00000197594 chr6:131869481-131869481;A/G missense_variant False EPC2@p.R243T 1 1.0 ENSG00000135999 chr2:148761843-148761843;G/C missense_variant False EPG5@p.E1699Q 1 0.2 ENSG00000152223 chr18:45887765-45887765;C/G missense_variant False EPG5@p.E1382K 1 0.298507463 ENSG00000152223 chr18:45910582-45910582;C/T missense_variant False EPDR1@p.P87L 1 0.56 ENSG00000086289 chr7:37921199-37921199;C/T missense_variant False EPCAM@p.K229N 1 0.191011236 ENSG00000119888 chr2:47379798-47379798;G/C missense_variant False EPCAM@p.E101Q 1 0.305555556 ENSG00000119888 chr2:47373924-47373924;G/C missense_variant False EPC2@p.R524Q 1 0.622807018 ENSG00000135999 chr2:148771238-148771238;G/A missense_variant False EPC2@p.E70Rfs*9 1 0.285714286 ENSG00000135999 chr2:148690259-148690260;-/A frameshift_variant False EPG5@p.E2045K 1 0.26984127 ENSG00000152223 chr18:45870659-45870659;C/T missense_variant False EPC2@p.E49K 1 0.161290323 ENSG00000135999 chr2:148645162-148645162;G/A missense_variant False EPC2@p.E147Q 1 0.242424242 ENSG00000135999 chr2:148743747-148743747;G/C missense_variant False EPC1@p.V647L 1 0.192982456 ENSG00000120616 chr10:32272161-32272161;C/G missense_variant False EPC1@p.V494F 1 0.06 ENSG00000120616 chr10:32284962-32284962;C/A missense_variant False EPC1@p.S509F 1 0.488888889 ENSG00000120616 chr10:32284916-32284916;G/A missense_variant False EPC1@p.R756Hfs*22 1 0.09929078 ENSG00000120616 chr10:32271716-32271725;ACAGTTAATC/TGAAT frameshift_variant False EPG5@p.E1942K 1 0.365384615 ENSG00000152223 chr18:45879058-45879058;C/T missense_variant False EPG5@p.E2239Q 1 0.325757576 ENSG00000152223 chr18:45865666-45865666;C/G missense_variant False EPHA8@p.A249T 1 0.136363636 ENSG00000070886 chr1:22576802-22576802;G/A missense_variant False EPG5@p.Q2222E 1 0.186440678 ENSG00000152223 chr18:45865717-45865717;G/C missense_variant False EPHA10@p.D641H 1 0.243902439 ENSG00000183317 chr1:37723080-37723080;C/G missense_variant False EPG5@p.Y803H 1 0.444444444 ENSG00000152223 chr18:45930681-45930681;A/G missense_variant False EPG5@p.V1680L 1 0.164948454 ENSG00000152223 chr18:45887822-45887822;C/G missense_variant False EPG5@p.S668L 1 0.615384615 ENSG00000152223 chr18:45939696-45939696;G/A missense_variant False EPG5@p.Q431E 1 0.514285714 ENSG00000152223 chr18:45951200-45951200;G/C missense_variant False EPG5@p.Q414R 1 0.096774194 ENSG00000152223 chr18:45952411-45952411;T/C missense_variant False EPG5@p.Q2067H 1 0.238095238 ENSG00000152223 chr18:45870591-45870591;C/G missense_variant False EPG5@p.E2412Q 1 0.652173913 ENSG00000152223 chr18:45858061-45858061;C/G missense_variant False EPG5@p.K23N 1 0.5 ENSG00000152223 chr18:45955333-45955333;C/G missense_variant False EPG5@p.F724L 1 0.12 ENSG00000152223 chr18:45934894-45934894;G/C missense_variant False EPG5@p.E94K 1 0.138461538 ENSG00000152223 chr18:45955122-45955122;C/T missense_variant False EPG5@p.E2459K 1 0.647058824 ENSG00000152223 chr18:45857920-45857920;C/T missense_variant False EPG5@p.E2441K 1 0.305555556 ENSG00000152223 chr18:45857974-45857974;C/T missense_variant False EPG5@p.E2433Q 1 0.131578947 ENSG00000152223 chr18:45857998-45857998;C/G missense_variant False EPC1@p.R221P 1 0.315068493 ENSG00000120616 chr10:32292992-32292992;C/G missense_variant False EPC1@p.N422S 1 0.050359712 ENSG00000120616 chr10:32286820-32286820;T/C missense_variant False EPC1@p.G44R 1 0.321167883 ENSG00000120616 chr10:32346786-32346786;C/T missense_variant False EPB41L3@p.V214G 1 0.301886792 ENSG00000082397 chr18:5434086-5434086;A/C missense_variant False EPB41L4B@p.K312T 1 0.428571429 ENSG00000095203 chr9:109255838-109255838;T/G missense_variant False EPB41L4B@p.G284S 1 0.617647059 ENSG00000095203 chr9:109256215-109256215;C/T missense_variant False EPB41L4B@p.E228Q 1 0.14084507 ENSG00000095203 chr9:109258247-109258247;C/G missense_variant False EPB41L4A@p.W515R 1 0.304347826 ENSG00000129595 chr5:112184095-112184095;A/T missense_variant False EPB41L4A@p.P129L 1 0.454545455 ENSG00000129595 chr5:112266280-112266280;G/A missense_variant False EPB41L4A@p.E568K 1 0.228070175 ENSG00000129595 chr5:112170338-112170338;C/T missense_variant False EPB41L3@p.T733Hfs*2 1 0.241935484 ENSG00000082397 chr18:5406925-5406929;TTGGT/- frameshift_variant False EPC1@p.D542N 1 0.071428571 ENSG00000120616 chr10:32284818-32284818;C/T missense_variant False EPB41L3@p.T232I 1 0.554216867 ENSG00000082397 chr18:5434032-5434032;G/A missense_variant False EPB41L3@p.S1068L 1 0.222222222 ENSG00000082397 chr18:5394744-5394744;G/A missense_variant False EPB41L3@p.P190A 1 0.229885057 ENSG00000082397 chr18:5438072-5438072;G/C missense_variant False EPB41L3@p.G562R 1 0.265 ENSG00000082397 chr18:5416201-5416201;C/G missense_variant False EPB41L3@p.F638L 1 0.185185185 ENSG00000082397 chr18:5415971-5415971;G/T missense_variant False EPB41L3@p.E854K 1 0.148148148 ENSG00000082397 chr18:5397339-5397339;C/T missense_variant False EPB41L4B@p.L289V 1 0.167487685 ENSG00000095203 chr9:109256200-109256200;G/C missense_variant False EPB41L4B@p.L896F 1 0.142857143 ENSG00000095203 chr9:109174569-109174569;C/G missense_variant False EPB41L4B@p.M789T 1 0.142857143 ENSG00000095203 chr9:109185541-109185541;A/G missense_variant False EPB41L4B@p.R282T 1 0.125 ENSG00000095203 chr9:109256220-109256220;C/G missense_variant False EPB41L4B@p.S501L 1 0.517241379 ENSG00000095203 chr9:109217053-109217053;G/A missense_variant False EPB41L5@p.D289N 1 0.352941176 ENSG00000115109 chr2:120087232-120087232;G/A missense_variant False EPB41L5@p.E368Q 1 0.366666667 ENSG00000115109 chr2:120091613-120091613;G/C missense_variant False EPB41L5@p.F705L 1 0.456521739 ENSG00000115109 chr2:120167987-120167987;C/A missense_variant False EPB41L5@p.L141V 1 0.365853659 ENSG00000115109 chr2:120075489-120075489;C/G missense_variant False EPB41L5@p.V428L 1 0.592592593 ENSG00000115109 chr2:120100759-120100759;G/C missense_variant False EPB42@p.E645K 1 0.435897436 ENSG00000166947 chr15:43197445-43197445;C/T missense_variant False EPB42@p.R194C 1 0.38 ENSG00000166947 chr15:43210409-43210409;G/A missense_variant False EPB42@p.S294L 1 0.460526316 ENSG00000166947 chr15:43208727-43208727;G/A missense_variant False EPC1@p.A604T 1 0.122807018 ENSG00000120616 chr10:32273216-32273216;C/T missense_variant False EPC1@p.D114H 1 0.147058824 ENSG00000120616 chr10:32293711-32293711;C/G missense_variant False EPC1@p.D327N 1 0.117647059 ENSG00000120616 chr10:32287271-32287271;C/T missense_variant False EPC1@p.D430N 1 0.191489362 ENSG00000120616 chr10:32286797-32286797;C/T missense_variant False EPHA10@p.R11C 1 0.444444444 ENSG00000183317 chr1:37765036-37765036;G/A missense_variant False EPHA10@p.T619K 1 0.161290323 ENSG00000183317 chr1:37723145-37723145;G/T missense_variant False EPHA1@p.Q759E 1 0.25 ENSG00000146904 chr7:143394885-143394885;G/C missense_variant False EPHA5@p.F855Sfs*6 1 0.241935484 ENSG00000145242 chr4:65348130-65348148;ACATCACTGGCAGAAGTAA/- frameshift_variant False EPHA5@p.S252F 1 0.324324324 ENSG00000145242 chr4:65601796-65601796;G/A missense_variant False EPHA5@p.R853Q 1 0.111111111 ENSG00000145242 chr4:65348154-65348154;C/T missense_variant False EPHA5@p.P561Q 1 0.129032258 ENSG00000145242 chr4:65414289-65414289;G/T missense_variant False EPHA5@p.P469Q 1 0.133333333 ENSG00000145242 chr4:65420562-65420562;G/T missense_variant False EPHA5@p.K396N 1 0.34 ENSG00000145242 chr4:65490591-65490591;C/G missense_variant False EPHA5@p.I850T 1 0.77 ENSG00000145242 chr4:65348163-65348163;A/G missense_variant False EPHA5@p.E754Q 1 0.315789474 ENSG00000145242 chr4:65353080-65353080;C/G missense_variant False EPHA5@p.A278T 1 0.326315789 ENSG00000145242 chr4:65601719-65601719;C/T missense_variant False EPHA5@p.E556K 1 0.137254902 ENSG00000145242 chr4:65414305-65414305;C/T missense_variant False EPHA5@p.E508K 1 0.303571429 ENSG00000145242 chr4:65420446-65420446;C/T missense_variant False EPHA5@p.E339K 1 0.076923077 ENSG00000145242 chr4:65495439-65495439;C/T missense_variant False EPHA5@p.E279K 1 0.126984127 ENSG00000145242 chr4:65601716-65601716;C/T missense_variant False EPHA5@p.D269N 1 0.102564103 ENSG00000145242 chr4:65601746-65601746;C/T missense_variant False EPHA5@p.A966D 1 0.1 ENSG00000145242 chr4:65332084-65332084;G/T missense_variant False EPHA5@p.V704L 1 0.25 ENSG00000145242 chr4:65365143-65365143;C/A missense_variant False EPHA6@p.E681Q 1 0.411764706 ENSG00000080224 chr3:97479331-97479331;G/C missense_variant False EPHA6@p.F562V 1 0.363636364 ENSG00000080224 chr3:97405227-97405227;T/G missense_variant False EPHA6@p.F810Y 1 0.317073171 ENSG00000080224 chr3:97592654-97592654;T/A missense_variant False EPHA6@p.G348E 1 0.525974026 ENSG00000080224 chr3:96987922-96987922;G/A missense_variant False EPHA6@p.P524L 1 0.08 ENSG00000080224 chr3:97244252-97244252;C/T missense_variant False EPHA6@p.R182C 1 0.137362637 ENSG00000080224 chr3:96987423-96987423;C/T missense_variant False EPHA6@p.R896Q 1 0.294117647 ENSG00000080224 chr3:97637985-97637985;G/A missense_variant False EPHA6@p.S369F 1 0.142857143 ENSG00000080224 chr3:96987985-96987985;C/T missense_variant False EPHA6@p.S621N 1 0.471698113 ENSG00000080224 chr3:97448698-97448698;G/A missense_variant False EPHA6@p.Y239S 1 0.554878049 ENSG00000080224 chr3:96987595-96987595;A/C missense_variant False EPHA7@p.A521G 1 0.141025641 ENSG00000135333 chr6:93269548-93269548;G/C missense_variant False EPHA7@p.A986E 1 0.404761905 ENSG00000135333 chr6:93243466-93243466;G/T missense_variant False EPHA7@p.C205F 1 0.463414634 ENSG00000135333 chr6:93410719-93410719;C/A missense_variant False EPHA7@p.E210D 1 0.090909091 ENSG00000135333 chr6:93410703-93410703;C/G missense_variant False EPHA7@p.G522S 1 0.096491228 ENSG00000135333 chr6:93269546-93269546;C/T missense_variant False EPHA7@p.P332L 1 0.285714286 ENSG00000135333 chr6:93357046-93357046;G/A missense_variant False EPHA5@p.A454V 1 0.426470588 ENSG00000145242 chr4:65490418-65490418;G/A missense_variant False EPHA4@p.I59Wfs*16 1 0.1 ENSG00000116106 chr2:221564380-221564383;ACTC/- frameshift_variant False EPHA1@p.S431F 1 0.128205128 ENSG00000146904 chr7:143398645-143398645;G/A missense_variant False EPHA2@p.H390Y 1 0.228571429 ENSG00000142627 chr1:16137997-16137997;G/A missense_variant False EPHA2@p.R907S 1 0.56043956 ENSG00000142627 chr1:16129540-16129540;G/T missense_variant False EPHA2@p.R415Afs*8 1 0.311111111 ENSG00000142627 chr1:16137922-16137922;G/- frameshift_variant False EPHA2@p.P461Afs*135 1 0.597222222 ENSG00000142627 chr1:16135703-16135704;-/G frameshift_variant False EPHA2@p.L720Rfs*8 1 0.526785714 ENSG00000142627 chr1:16132230-16132230;A/- frameshift_variant False EPHA2@p.K646N 1 0.1 ENSG00000142627 chr1:16133295-16133295;C/G missense_variant False EPHA2@p.K50R 1 0.113636364 ENSG00000142627 chr1:16150900-16150900;T/C missense_variant False EPHA2@p.G620R 1 0.333333333 ENSG00000142627 chr1:16133487-16133487;C/G missense_variant False EPHA3@p.T933M 1 0.441558442 ENSG00000044524 chr3:89472571-89472571;C/T missense_variant False EPHA2@p.F182Lfs*31 1 0.146666667 ENSG00000142627 chr1:16148654-16148655;GG/- frameshift_variant False EPHA2@p.E693* 1 0.333333333 ENSG00000142627 chr1:16132416-16132417;-/A frameshift_variant False EPHA2@p.D659N 1 0.287878788 ENSG00000142627 chr1:16133258-16133258;C/T missense_variant False EPHA2@p.C188Y 1 0.5 ENSG00000142627 chr1:16148638-16148638;C/T missense_variant False EPHA2@p.A381T 1 0.466666667 ENSG00000142627 chr1:16138024-16138024;C/T missense_variant False EPHA2@p.A35Vfs*20 1 0.56043956 ENSG00000142627 chr1:16150945-16150945;G/- frameshift_variant False EPHA2@p.S844F 1 0.185185185 ENSG00000142627 chr1:16130364-16130364;G/A missense_variant False EPHA2@p.V69L 1 0.5 ENSG00000142627 chr1:16148996-16148996;C/A missense_variant False EPHA2@p.Y408C 1 0.584269663 ENSG00000142627 chr1:16137942-16137942;T/C missense_variant False EPHA3@p.D316N 1 0.319634703 ENSG00000044524 chr3:89341047-89341047;G/A missense_variant False EPHA3@p.D904Y 1 0.14507772 ENSG00000044524 chr3:89472483-89472483;G/T missense_variant False EPHA3@p.E264K 1 0.10738255 ENSG00000044524 chr3:89210496-89210496;G/A missense_variant False EPHA3@p.E265K 1 0.436666667 ENSG00000044524 chr3:89210499-89210499;G/A missense_variant False EPHA3@p.E53K 1 0.4 ENSG00000044524 chr3:89209863-89209863;G/A missense_variant False EPHA3@p.G248C 1 0.204081633 ENSG00000044524 chr3:89210448-89210448;G/T missense_variant False EPHA3@p.I623T 1 0.05 ENSG00000044524 chr3:89413246-89413246;T/C missense_variant False EPHA3@p.I910F 1 0.420074349 ENSG00000044524 chr3:89472501-89472501;A/T missense_variant False EPHA3@p.L16I 1 0.5 ENSG00000044524 chr3:89107794-89107794;C/A missense_variant False EPHA3@p.N80I 1 0.377358491 ENSG00000044524 chr3:89209945-89209945;A/T missense_variant False EPHA3@p.P591A 1 0.539130435 ENSG00000044524 chr3:89413149-89413149;C/G missense_variant False EPHA3@p.Q434E 1 0.269230769 ENSG00000044524 chr3:89342084-89342084;C/G missense_variant False EPHA3@p.R104P 1 0.204301075 ENSG00000044524 chr3:89210017-89210017;G/C missense_variant False EPHA3@p.S377I 1 0.134020619 ENSG00000044524 chr3:89341914-89341914;G/T missense_variant False EPB41L3@p.E849K 1 0.104166667 ENSG00000082397 chr18:5397354-5397354;C/T missense_variant False EPB41L3@p.E797K 1 0.112676056 ENSG00000082397 chr18:5398104-5398104;C/T missense_variant False EPB41L3@p.D603G 1 0.074468085 ENSG00000082397 chr18:5416077-5416077;T/C missense_variant False ENTPD7@p.R458K 1 0.342960289 ENSG00000198018 chr10:99701010-99701010;G/A missense_variant False ENTR1@p.E105K 1 0.205882353 ENSG00000165689 chr9:136407915-136407915;C/T missense_variant False ENTPD8@p.Q459L 1 0.392857143 ENSG00000188833 chr9:137435026-137435026;T/A missense_variant False ENTPD8@p.H294P 1 0.417582418 ENSG00000188833 chr9:137436182-137436182;T/G missense_variant False ENTPD8@p.G207E 1 0.375 ENSG00000188833 chr9:137436687-137436687;C/T missense_variant False ENTPD8@p.E308K 1 0.214285714 ENSG00000188833 chr9:137436141-137436141;C/T missense_variant False ENTPD8@p.D455N 1 0.283333333 ENSG00000188833 chr9:137435039-137435039;C/T missense_variant False ENTPD7@p.R251K 1 0.586206897 ENSG00000198018 chr10:99691427-99691427;G/A missense_variant False ENTPD3@p.S354T 1 0.435643564 ENSG00000168032 chr3:40423078-40423078;T/A missense_variant False ENTPD7@p.E592K 1 0.348837209 ENSG00000198018 chr10:99704642-99704642;G/A missense_variant False ENTPD7@p.D191N 1 0.276595745 ENSG00000198018 chr10:99685814-99685814;G/A missense_variant False ENTPD6@p.R367T 1 0.617647059 ENSG00000197586 chr20:25222892-25222892;G/C missense_variant False ENTPD5@p.L350* 1 0.184615385 ENSG00000187097 chr14:73971887-73971887;A/- frameshift_variant False ENTPD5@p.E79Q 1 0.228070175 ENSG00000187097 chr14:73986876-73986876;C/G missense_variant False ENTPD5@p.E353K 1 0.349315068 ENSG00000187097 chr14:73971879-73971879;C/T missense_variant False EOGT@p.D401N 1 0.25 ENSG00000163378 chr3:68982824-68982824;C/T missense_variant False EOGT@p.E83K 1 0.333333333 ENSG00000163378 chr3:69008492-69008492;C/T missense_variant False EOGT@p.R459G 1 0.171052632 ENSG00000163378 chr3:68978395-68978395;T/C missense_variant False EOLA2@p.P29S 1 0.076923077 ENSG00000197021 chrX:149933790-149933790;G/A missense_variant False EOMES@p.E354K 1 0.217821782 ENSG00000163508 chr3:27719458-27719458;C/T missense_variant False EOMES@p.Y313C 1 0.455598456 ENSG00000163508 chr3:27720269-27720269;T/C missense_variant False EP300@p.C1164Y 1 0.196531792 ENSG00000100393 chr22:41157398-41157398;G/A missense_variant True EP300@p.C1177Tfs*49 1 0.448979592 ENSG00000100393 chr22:41158438-41158441;TTGC/- frameshift_variant True EP300@p.C1247F 1 0.473282443 ENSG00000100393 chr22:41164064-41164064;G/T missense_variant True EP300@p.C1385Y 1 0.131455399 ENSG00000100393 chr22:41168849-41168849;G/A missense_variant True EP300@p.D1188H 1 0.408163265 ENSG00000100393 chr22:41158472-41158472;G/C missense_variant True EP300@p.D1217Mfs*10 1 0.368421053 ENSG00000100393 chr22:41160696-41160696;G/- frameshift_variant True EP300@p.D1273N 1 0.114285714 ENSG00000100393 chr22:41166609-41166609;G/A missense_variant True EP300@p.D1399Y 1 0.329787234 ENSG00000100393 chr22:41169525-41169525;G/T missense_variant True EP300@p.D1445N 1 0.283783784 ENSG00000100393 chr22:41170452-41170452;G/A missense_variant True EP300@p.D1507N 1 0.257142857 ENSG00000100393 chr22:41172565-41172565;G/A missense_variant True EP300@p.E1207Q 1 0.134615385 ENSG00000100393 chr22:41160670-41160670;G/C missense_variant True ENTPD5@p.A359P 1 0.168067227 ENSG00000187097 chr14:73971861-73971861;C/G missense_variant False ENTPD3@p.G130R 1 0.264150943 ENSG00000168032 chr3:40411913-40411913;G/A missense_variant False EP300@p.E1334del 1 0.245614035 ENSG00000100393 chr22:41168574-41168576;GAA/- inframe_deletion True ENPP4@p.S174L 1 0.45 ENSG00000001561 chr6:46140104-46140104;C/T missense_variant False ENPP5@p.P357L 1 0.172680412 ENSG00000112796 chr6:46161690-46161690;G/A missense_variant False ENPP5@p.M55I 1 0.783783784 ENSG00000112796 chr6:46168098-46168098;C/T missense_variant False ENPP5@p.L231V 1 0.462365591 ENSG00000112796 chr6:46167572-46167572;G/C missense_variant False ENPP5@p.L218R 1 0.157635468 ENSG00000112796 chr6:46167610-46167610;A/C missense_variant False ENPP5@p.D321N 1 0.130434783 ENSG00000112796 chr6:46165432-46165432;C/T missense_variant False ENPP4@p.S258L 1 0.215686275 ENSG00000001561 chr6:46140356-46140356;C/T missense_variant False ENPP3@p.L657V 1 0.327433628 ENSG00000154269 chr6:131733603-131733603;C/G missense_variant False ENTPD3@p.F2L 1 0.471698113 ENSG00000168032 chr3:40388063-40388063;C/A missense_variant False ENPP3@p.E816Q 1 0.145833333 ENSG00000154269 chr6:131740369-131740369;G/C missense_variant False ENPP2@p.N231I 1 0.148148148 ENSG00000136960 chr8:119616350-119616350;T/A missense_variant False ENPP2@p.I33N 1 0.215517241 ENSG00000136960 chr8:119638463-119638463;A/T missense_variant False ENPP2@p.F626L 1 0.206896552 ENSG00000136960 chr8:119570744-119570744;G/C missense_variant False ENPP2@p.E442Q 1 0.294736842 ENSG00000136960 chr8:119586229-119586229;C/G missense_variant False ENPP2@p.D146H 1 0.253521127 ENSG00000136960 chr8:119619287-119619287;C/G missense_variant False ENPP5@p.S267F 1 0.1625 ENSG00000112796 chr6:46167463-46167463;G/A missense_variant False ENPP6@p.D175N 1 0.338028169 ENSG00000164303 chr4:184124171-184124171;C/T missense_variant False ENPP6@p.D240N 1 0.295774648 ENSG00000164303 chr4:184116993-184116993;C/T missense_variant False ENPP7@p.D120N 1 0.486486486 ENSG00000182156 chr17:79733612-79733612;G/A missense_variant False ENPP7@p.E211K 1 0.407407407 ENSG00000182156 chr17:79735274-79735274;G/A missense_variant False ENPP7@p.R136K 1 0.115384615 ENSG00000182156 chr17:79735050-79735050;G/A missense_variant False ENPP7@p.R255W 1 0.513888889 ENSG00000182156 chr17:79735406-79735406;C/T missense_variant False ENSA@p.L110V 1 0.088888889 ENSG00000143420 chr1:150625664-150625664;G/C missense_variant False ENTHD1@p.D522H 1 0.144736842 ENSG00000176177 chr22:39743939-39743939;C/G missense_variant False ENTHD1@p.E183D 1 0.488888889 ENSG00000176177 chr22:39861808-39861808;C/A missense_variant False ENTHD1@p.L573F 1 0.438356164 ENSG00000176177 chr22:39743786-39743786;G/A missense_variant False ENTHD1@p.R22T 1 0.253968254 ENSG00000176177 chr22:39887684-39887684;C/G missense_variant False ENTHD1@p.S509C 1 0.191489362 ENSG00000176177 chr22:39743977-39743977;G/C missense_variant False ENTPD2@p.Y236C 1 0.269230769 ENSG00000054179 chr9:137050969-137050969;T/C missense_variant False ENTPD3@p.E150K 1 0.509090909 ENSG00000168032 chr3:40414691-40414691;G/A missense_variant False ENTPD3@p.E268Q 1 0.305084746 ENSG00000168032 chr3:40416044-40416044;G/C missense_variant False ENTPD3@p.E326Q 1 0.279069767 ENSG00000168032 chr3:40422994-40422994;G/C missense_variant False EP300@p.E1211D 1 0.333333333 ENSG00000100393 chr22:41160684-41160684;G/T missense_variant True EP300@p.E1524K 1 0.533333333 ENSG00000100393 chr22:41172616-41172616;G/A missense_variant True EPB41L3@p.D199H 1 0.1875 ENSG00000082397 chr18:5438045-5438045;C/G missense_variant False EP400@p.S45L 1 0.548387097 ENSG00000183495 chr12:131960753-131960753;C/T missense_variant False EPB41@p.E124K 1 0.25 ENSG00000159023 chr1:28987807-28987807;G/A missense_variant False EPAS1@p.R690Q 1 0.257142857 ENSG00000116016 chr2:46381619-46381619;G/A missense_variant False EPAS1@p.K7R 1 0.37037037 ENSG00000116016 chr2:46297931-46297931;A/G missense_variant False EPAS1@p.D107N 1 0.159663866 ENSG00000116016 chr2:46356252-46356252;G/A missense_variant False EP400@p.T1577I 1 0.082352941 ENSG00000183495 chr12:132023816-132023816;C/T missense_variant False EP400@p.S907C 1 0.421052632 ENSG00000183495 chr12:131992213-131992213;C/G missense_variant False EP400@p.S1771L 1 0.25 ENSG00000183495 chr12:132028219-132028219;C/T missense_variant False EP400@p.G2762S 1 0.516666667 ENSG00000183495 chr12:132062651-132062651;G/A missense_variant False EP400@p.R810H 1 0.355555556 ENSG00000183495 chr12:131989983-131989983;G/A missense_variant False EP400@p.R1467Q 1 0.214285714 ENSG00000183495 chr12:132020171-132020171;G/A missense_variant False EP400@p.Q871H 1 0.2 ENSG00000183495 chr12:131990698-131990698;G/T missense_variant False EP400@p.P1400S 1 0.395061728 ENSG00000183495 chr12:132018297-132018297;C/T missense_variant False EP400@p.M1404V 1 0.287878788 ENSG00000183495 chr12:132018309-132018309;A/G missense_variant False EP400@p.K595N 1 0.230769231 ENSG00000183495 chr12:131982334-131982334;G/C missense_variant False EPB41@p.E177Q 1 0.216 ENSG00000159023 chr1:28993390-28993390;G/C missense_variant False EPB41@p.G782A 1 0.516129032 ENSG00000159023 chr1:29109367-29109367;G/C missense_variant False EPB41@p.K818N 1 0.214285714 ENSG00000159023 chr1:29112406-29112406;G/C missense_variant False EPB41@p.Q159E 1 0.275229358 ENSG00000159023 chr1:28993336-28993336;C/G missense_variant False EPB41@p.Q190E 1 0.307692308 ENSG00000159023 chr1:28993429-28993429;C/G missense_variant False EPB41L1@p.D447N 1 0.230769231 ENSG00000088367 chr20:36194250-36194250;G/A missense_variant False EPB41L1@p.L640V 1 0.321100917 ENSG00000088367 chr20:36209737-36209737;C/G missense_variant False EPB41L1@p.S421C 1 0.263157895 ENSG00000088367 chr20:36190759-36190759;C/G missense_variant False EPB41L1@p.S606C 1 0.268656716 ENSG00000088367 chr20:36209636-36209636;C/G missense_variant False EPB41L1@p.T211M 1 0.2 ENSG00000088367 chr20:36185182-36185182;C/T missense_variant False EPB41L1@p.T613A 1 0.434782609 ENSG00000088367 chr20:36209656-36209656;A/G missense_variant False EPB41L2@p.A334D 1 0.193181818 ENSG00000079819 chr6:130901109-130901109;G/T missense_variant False EPB41L2@p.E888A 1 0.365217391 ENSG00000079819 chr6:130867526-130867526;T/G missense_variant False EPB41L2@p.K693N 1 0.293650794 ENSG00000079819 chr6:130870091-130870091;C/G missense_variant False EPB41L2@p.P80T 1 0.207792208 ENSG00000079819 chr6:130956248-130956248;G/T missense_variant False EPB41L3@p.A773V 1 0.3125 ENSG00000082397 chr18:5406808-5406808;G/A missense_variant False EPB41L3@p.A912S 1 0.256198347 ENSG00000082397 chr18:5397165-5397165;C/A missense_variant False EP400@p.H1261Y 1 0.525 ENSG00000183495 chr12:132013659-132013659;C/T missense_variant False EP400@p.F1444L 1 0.298701299 ENSG00000183495 chr12:132020103-132020103;C/A missense_variant False EP300@p.E1526D 1 0.216216216 ENSG00000100393 chr22:41172624-41172624;G/C missense_variant True EP300@p.K14Q 1 0.449848024 ENSG00000100393 chr22:41093044-41093044;A/C missense_variant True EP300@p.M2188I 1 0.206896552 ENSG00000100393 chr22:41178275-41178275;G/A missense_variant True EP300@p.M1339I 1 0.37037037 ENSG00000100393 chr22:41168591-41168591;G/A missense_variant True EP300@p.L36R 1 0.448979592 ENSG00000100393 chr22:41117199-41117199;T/G missense_variant True EP300@p.L1409F 1 0.068493151 ENSG00000100393 chr22:41169557-41169557;G/C missense_variant True EP300@p.K17E 1 0.375 ENSG00000100393 chr22:41093053-41093053;A/G missense_variant True EP300@p.K1550N 1 0.282608696 ENSG00000100393 chr22:41173655-41173655;G/T missense_variant True EP300@p.I1739M 1 0.714285714 ENSG00000100393 chr22:41176928-41176928;C/G missense_variant True EP400@p.A3046V 1 0.26984127 ENSG00000183495 chr12:132077438-132077438;C/T missense_variant False EP300@p.I1619T 1 0.234567901 ENSG00000100393 chr22:41176323-41176323;T/C missense_variant True EP300@p.H631D 1 0.529411765 ENSG00000100393 chr22:41141060-41141060;C/G missense_variant True EP300@p.H381Lfs*29 1 0.359375 ENSG00000100393 chr22:41127718-41127719;AC/- frameshift_variant True EP300@p.H1255R 1 0.341463415 ENSG00000100393 chr22:41164088-41164088;A/G missense_variant True EP300@p.G1347A 1 0.319148936 ENSG00000100393 chr22:41168735-41168735;G/C missense_variant True EP300@p.E1530Gfs*11 1 0.368421053 ENSG00000100393 chr22:41172635-41172635;A/- frameshift_variant True EP300@p.M749V 1 0.3 ENSG00000100393 chr22:41149041-41149041;A/G missense_variant True EP300@p.N94S 1 0.096153846 ENSG00000100393 chr22:41117373-41117373;A/G missense_variant True EP300@p.P1074S 1 0.050473186 ENSG00000100393 chr22:41155072-41155072;C/T missense_variant True EP300@p.P2061L 1 0.268817204 ENSG00000100393 chr22:41177893-41177893;C/T missense_variant True EP300@p.Q1223E 1 0.388888889 ENSG00000100393 chr22:41160718-41160718;C/G missense_variant True EP300@p.Q1455H 1 0.448275862 ENSG00000100393 chr22:41170484-41170484;G/C missense_variant True EP300@p.Q1455R 1 0.169491525 ENSG00000100393 chr22:41170483-41170483;A/G missense_variant True EP300@p.Q1648Sfs*61 1 0.222222222 ENSG00000100393 chr22:41176407-41176407;C/- frameshift_variant True EP300@p.Q1811H 1 0.231404959 ENSG00000100393 chr22:41177144-41177144;G/T missense_variant True EP300@p.Q2002E 1 0.686567164 ENSG00000100393 chr22:41177715-41177715;C/G missense_variant True EP300@p.R1627G 1 0.450704225 ENSG00000100393 chr22:41176346-41176346;C/G missense_variant True EP300@p.R1645Pfs*28 1 0.265822785 ENSG00000100393 chr22:41176398-41176399;-/C frameshift_variant True EP300@p.R705G 1 0.111111111 ENSG00000100393 chr22:41146798-41146798;C/G missense_variant True EP300@p.S1095I 1 0.384615385 ENSG00000100393 chr22:41157191-41157191;G/T missense_variant True EP300@p.S1400R 1 0.390625 ENSG00000100393 chr22:41169530-41169530;T/G missense_variant True EP300@p.S1577F 1 0.331325301 ENSG00000100393 chr22:41173735-41173735;C/T missense_variant True EP300@p.W1509C 1 0.361445783 ENSG00000100393 chr22:41172573-41172573;G/T missense_variant True EPHA7@p.T731A 1 0.153846154 ENSG00000135333 chr6:93256019-93256019;T/C missense_variant False EPHA8@p.C568F 1 0.412371134 ENSG00000070886 chr1:22596111-22596111;G/T missense_variant False ERCC3@p.S764L 1 0.262295082 ENSG00000163161 chr2:127257654-127257654;G/A missense_variant False ERBB2@p.S413L 1 0.222222222 ENSG00000141736 chr17:39715461-39715461;C/T missense_variant True ERBB3@p.D251H 1 0.866666667 ENSG00000065361 chr12:56088039-56088039;G/C missense_variant False ERBB3@p.D1327Y 1 0.290502793 ENSG00000065361 chr12:56102005-56102005;G/T missense_variant False ERBB2@p.T862A 1 0.173913043 ENSG00000141736 chr17:39725139-39725139;A/G missense_variant True ERBB2@p.T733I 1 0.941666667 ENSG00000141736 chr17:39723650-39723650;C/T missense_variant True ERBB2@p.S653C 1 0.348387097 ENSG00000141736 chr17:39723330-39723330;C/G missense_variant True ERBB2@p.S573L 1 0.375 ENSG00000141736 chr17:39716586-39716586;C/T missense_variant True ERBB2@p.S250F 1 0.254237288 ENSG00000141736 chr17:39710191-39710191;C/T missense_variant True ERBB3@p.D767N 1 0.472222222 ENSG00000065361 chr12:56097069-56097069;G/A missense_variant False ERBB2@p.S196F 1 0.25 ENSG00000141736 chr17:39709825-39709825;C/T missense_variant True ERBB2@p.L755S 1 0.414634146 ENSG00000141736 chr17:39723967-39723967;T/C missense_variant True ERBB2@p.L313V 1 0.965541246 ENSG00000141736 chr17:39711963-39711963;C/G missense_variant True ERBB2@p.H1208Y 1 0.139534884 ENSG00000141736 chr17:39727898-39727898;C/T missense_variant True ERBB2@p.G776S 1 0.1953125 ENSG00000141736 chr17:39724744-39724744;G/A missense_variant True ERBB2@p.G222C 1 0.684848485 ENSG00000141736 chr17:39710106-39710106;G/T missense_variant True ERBB3@p.D581H 1 0.210526316 ENSG00000065361 chr12:56094438-56094438;G/C missense_variant False ERBB3@p.D939N 1 0.35 ENSG00000065361 chr12:56098881-56098881;G/A missense_variant False EPHA8@p.G134A 1 0.1 ENSG00000070886 chr1:22576458-22576458;G/C missense_variant False ERBB3@p.G419A 1 0.923076923 ENSG00000065361 chr12:56093058-56093058;G/C missense_variant False ERBB3@p.R103H 1 0.0875 ENSG00000065361 chr12:56085068-56085068;G/A missense_variant False ERBB3@p.P583S 1 0.158878505 ENSG00000065361 chr12:56094444-56094444;C/T missense_variant False ERBB3@p.L792M 1 0.181818182 ENSG00000065361 chr12:56097144-56097144;C/A missense_variant False ERBB3@p.L74F 1 0.278846154 ENSG00000065361 chr12:56083888-56083888;C/T missense_variant False ERBB3@p.K329E 1 0.241666667 ENSG00000065361 chr12:56088653-56088653;A/G missense_variant False ERBB3@p.H228Q 1 0.313131313 ENSG00000065361 chr12:56087865-56087865;T/A missense_variant False ERBB3@p.F409L 1 0.12195122 ENSG00000065361 chr12:56093029-56093029;C/A missense_variant False ERBB3@p.D951H 1 0.223300971 ENSG00000065361 chr12:56099659-56099659;G/C missense_variant False ERBB3@p.E981D 1 0.166666667 ENSG00000065361 chr12:56099843-56099843;G/C missense_variant False ERBB3@p.E928K 1 0.247706422 ENSG00000065361 chr12:56098848-56098848;G/A missense_variant False ERBB3@p.E173K 1 0.312138728 ENSG00000065361 chr12:56086626-56086626;G/A missense_variant False ERBB3@p.E150K 1 0.489361702 ENSG00000065361 chr12:56086557-56086557;G/A missense_variant False ERBB3@p.E1189K 1 0.26 ENSG00000065361 chr12:56101591-56101591;G/A missense_variant False ERBB3@p.D951N 1 0.166666667 ENSG00000065361 chr12:56099659-56099659;G/A missense_variant False ERBB2@p.F595L 1 0.267857143 ENSG00000141736 chr17:39717367-39717367;C/A missense_variant True ERBB2@p.E280Q 1 0.384615385 ENSG00000141736 chr17:39710418-39710418;G/C missense_variant True ERBB2@p.E1244Q 1 0.268041237 ENSG00000141736 chr17:39728006-39728006;G/C missense_variant True EPX@p.N154del 1 0.1 ENSG00000121053 chr17:58193823-58193825;CAA/- inframe_deletion False EQTN@p.D46N 1 0.56 ENSG00000120160 chr9:27296679-27296679;C/T missense_variant False EQTN@p.D153Y 1 0.06 ENSG00000120160 chr9:27289696-27289696;C/A missense_variant False EPYC@p.S125R 1 0.376344086 ENSG00000083782 chr12:90972948-90972948;T/G missense_variant False EPX@p.S34L 1 0.302631579 ENSG00000121053 chr17:58193062-58193062;C/T missense_variant False EPX@p.Q342E 1 0.188118812 ENSG00000121053 chr17:58197161-58197161;C/G missense_variant False EPX@p.P407L 1 0.5 ENSG00000121053 chr17:58199139-58199139;C/T missense_variant False EPX@p.E102del 1 0.236842105 ENSG00000121053 chr17:58193504-58193506;GAG/- inframe_deletion False ERBB2@p.D821H 1 0.25 ENSG00000141736 chr17:39724879-39724879;G/C missense_variant True EPX@p.D412N 1 0.382352941 ENSG00000121053 chr17:58199153-58199153;G/A missense_variant False EPX@p.A534Vfs*4 1 0.121621622 ENSG00000121053 chr17:58200285-58200289;ATGCC/- frameshift_variant False EPSTI1@p.L69F 1 0.147540984 ENSG00000133106 chr13:42970652-42970652;C/G missense_variant False EPS8L3@p.S107C 1 0.222222222 ENSG00000198758 chr1:109759323-109759323;G/C missense_variant False EPS8L3@p.R62Q 1 0.12244898 ENSG00000198758 chr1:109759748-109759748;C/T missense_variant False EPS8L3@p.Q42H 1 0.25 ENSG00000198758 chr1:109759807-109759807;C/G missense_variant False EQTN@p.E248Q 1 0.24137931 ENSG00000120160 chr9:27284866-27284866;C/G missense_variant False EQTN@p.E45K 1 0.173913043 ENSG00000120160 chr9:27296682-27296682;C/T missense_variant False EQTN@p.S108Nfs*32 1 0.352941176 ENSG00000120160 chr9:27292455-27292456;-/TT frameshift_variant False EQTN@p.V292F 1 0.344086022 ENSG00000120160 chr9:27284734-27284734;C/A missense_variant False ERAL1@p.L324V 1 0.237288136 ENSG00000132591 chr17:28858973-28858973;C/G missense_variant False ERAL1@p.S14L 1 0.5625 ENSG00000132591 chr17:28855075-28855075;C/T missense_variant False ERAL1@p.V232F 1 0.174311927 ENSG00000132591 chr17:28858469-28858469;G/T missense_variant False ERAP1@p.D434H 1 0.244897959 ENSG00000164307 chr5:96792081-96792081;C/G missense_variant False ERAP2@p.E200Q 1 0.5 ENSG00000164308 chr5:96883814-96883814;G/C missense_variant False ERAP2@p.H45Y 1 0.254545455 ENSG00000164308 chr5:96879818-96879818;C/T missense_variant False ERAP2@p.S705L 1 0.152941176 ENSG00000164308 chr5:96909062-96909062;C/T missense_variant False ERAP2@p.W541G 1 0.23 ENSG00000164308 chr5:96901554-96901554;T/G missense_variant False ERAS@p.E81Q 1 0.19047619 ENSG00000187682 chrX:48829364-48829364;G/C missense_variant False ERAS@p.L61V 1 0.184210526 ENSG00000187682 chrX:48829304-48829304;C/G missense_variant False ERBB2@p.D1013H 1 0.208633094 ENSG00000141736 chr17:39726881-39726881;G/C missense_variant True ERBB2@p.D277Y 1 0.088607595 ENSG00000141736 chr17:39710409-39710409;G/T missense_variant True ERBB2@p.D30H 1 0.092307692 ENSG00000141736 chr17:39707004-39707004;G/C missense_variant True ERBB3@p.R1267Q 1 0.18487395 ENSG00000065361 chr12:56101826-56101826;G/A missense_variant False ERBB3@p.S1232I 1 0.7 ENSG00000065361 chr12:56101721-56101721;G/T missense_variant False ERBB3@p.S1234C 1 0.076923077 ENSG00000065361 chr12:56101727-56101727;C/G missense_variant False ERCC1@p.S14L 1 0.185185185 ENSG00000012061 chr19:45423334-45423334;G/A missense_variant False ERCC2@p.H118Y 1 0.514285714 ENSG00000104884 chr19:45368638-45368638;G/A missense_variant False ERCC2@p.G675S 1 0.453488372 ENSG00000104884 chr19:45352529-45352529;C/T missense_variant False ERCC2@p.G607A 1 0.289017341 ENSG00000104884 chr19:45353094-45353094;C/G missense_variant False ERCC2@p.E86Q 1 0.212121212 ENSG00000104884 chr19:45368734-45368734;C/G missense_variant False ERCC2@p.E554Q 1 0.454545455 ENSG00000104884 chr19:45354735-45354735;C/G missense_variant False ERCC2@p.A443V 1 0.547445255 ENSG00000104884 chr19:45357523-45357523;G/A missense_variant False ERCC1@p.E203K 1 0.302631579 ENSG00000012061 chr19:45414956-45414956;C/T missense_variant False ERC2@p.E535Q 1 0.5 ENSG00000187672 chr3:56080855-56080855;C/G missense_variant False ERCC1@p.C76Y 1 0.263157895 ENSG00000012061 chr19:45421272-45421272;C/T missense_variant False ERC2@p.Y117C 1 0.289795918 ENSG00000187672 chr3:56434658-56434658;T/C missense_variant False ERC2@p.W186C 1 0.100478469 ENSG00000187672 chr3:56434450-56434450;C/G missense_variant False ERC2@p.M530T 1 0.25 ENSG00000187672 chr3:56080869-56080869;A/G missense_variant False ERC2@p.M530I 1 0.156862745 ENSG00000187672 chr3:56080868-56080868;C/T missense_variant False ERC2@p.K509N 1 0.472222222 ENSG00000187672 chr3:56080931-56080931;T/G missense_variant False ERCC2@p.H210Q 1 0.536082474 ENSG00000104884 chr19:45364512-45364512;G/C missense_variant False ERCC2@p.H659Y 1 0.25974026 ENSG00000104884 chr19:45352577-45352577;G/A missense_variant False ERCC2@p.I80T 1 0.395061728 ENSG00000104884 chr19:45368937-45368937;A/G missense_variant False ERCC2@p.Q758E 1 0.122137405 ENSG00000104884 chr19:45351640-45351640;G/C missense_variant False ERCC2@p.R75K 1 0.228070175 ENSG00000104884 chr19:45368952-45368952;C/T missense_variant False ERCC2@p.S246F 1 0.454545455 ENSG00000104884 chr19:45364313-45364313;G/A missense_variant False ERCC2@p.S246Y 1 0.081818182 ENSG00000104884 chr19:45364313-45364313;G/T missense_variant False ERCC2@p.S458C 1 0.129032258 ENSG00000104884 chr19:45357478-45357478;G/C missense_variant False ERCC2@p.S74L 1 0.31 ENSG00000104884 chr19:45368955-45368955;G/A missense_variant False ERCC2@p.T484M 1 0.351648352 ENSG00000104884 chr19:45357298-45357298;G/A missense_variant False ERCC2@p.Y209C 1 0.254237288 ENSG00000104884 chr19:45364516-45364516;T/C missense_variant False ERCC3@p.E20K 1 0.2 ENSG00000163161 chr2:127293689-127293689;C/T missense_variant False ERCC3@p.E278K 1 0.381443299 ENSG00000163161 chr2:127288855-127288855;C/T missense_variant False ERCC3@p.Q320E 1 0.232415902 ENSG00000163161 chr2:127288729-127288729;G/C missense_variant False ERCC3@p.R325Q 1 0.123287671 ENSG00000163161 chr2:127288713-127288713;C/T missense_variant False ERCC3@p.R358I 1 0.227272727 ENSG00000163161 chr2:127286972-127286972;C/A missense_variant False ERCC3@p.R678K 1 0.264150943 ENSG00000163161 chr2:127261259-127261259;C/T missense_variant False ERC2@p.I49T 1 0.566037736 ENSG00000187672 chr3:56434862-56434862;A/G missense_variant False ERC2@p.E257K 1 0.441176471 ENSG00000187672 chr3:56296324-56296324;C/T missense_variant False ERBB3@p.S236L 1 0.23655914 ENSG00000065361 chr12:56087888-56087888;C/T missense_variant False ERBB4@p.E1283Q 1 0.255813953 ENSG00000178568 chr2:211383695-211383695;C/G missense_variant False ERBB4@p.P854R 1 0.728813559 ENSG00000178568 chr2:211431027-211431027;G/C missense_variant False ERBB4@p.N1029D 1 0.066666667 ENSG00000178568 chr2:211420491-211420491;T/C missense_variant False ERBB4@p.L798P 1 0.201754386 ENSG00000178568 chr2:211561997-211561997;A/G missense_variant False ERBB4@p.L686F 1 0.097014925 ENSG00000178568 chr2:211630483-211630483;C/G missense_variant False ERBB4@p.I531M 1 0.25 ENSG00000178568 chr2:211679081-211679081;G/C missense_variant False ERBB4@p.G1076E 1 0.194805195 ENSG00000178568 chr2:211387107-211387107;C/T missense_variant False ERBB4@p.C156F 1 0.18 ENSG00000178568 chr2:211788114-211788114;C/A missense_variant False ERC2@p.D917N 1 0.382089552 ENSG00000187672 chr3:55699476-55699476;C/T missense_variant False ERBB3@p.V593_L594del 1 0.13253012 ENSG00000065361 chr12:56094473-56094478;AGTCCT/- inframe_deletion False ERBB3@p.V104M 1 0.37037037 ENSG00000065361 chr12:56085070-56085070;G/A missense_variant False ERBB3@p.T355P 1 0.094890511 ENSG00000065361 chr12:56088822-56088822;A/C missense_variant False ERBB3@p.S782F 1 0.344262295 ENSG00000065361 chr12:56097115-56097115;C/T missense_variant False ERBB3@p.S782C 1 0.785185185 ENSG00000065361 chr12:56097115-56097115;C/G missense_variant False ERBB3@p.S236P 1 0.251207729 ENSG00000065361 chr12:56087887-56087887;T/C missense_variant False ERBB4@p.R306C 1 0.402777778 ENSG00000178568 chr2:211713616-211713616;G/A missense_variant False ERBIN@p.D641Ffs*5 1 0.125 ENSG00000112851 chr5:66050799-66050800;AG/- frameshift_variant False ERBIN@p.D673N 1 0.258064516 ENSG00000112851 chr5:66050896-66050896;G/A missense_variant False ERBIN@p.E170K 1 0.210526316 ENSG00000112851 chr5:66014700-66014700;G/A missense_variant False ERBIN@p.H31Y 1 0.27173913 ENSG00000112851 chr5:65992809-65992809;C/T missense_variant False ERBIN@p.L71S 1 0.384615385 ENSG00000112851 chr5:65994769-65994769;T/C missense_variant False ERBIN@p.S582C 1 0.234939759 ENSG00000112851 chr5:66046495-66046495;C/G missense_variant False ERBIN@p.S667L 1 0.28125 ENSG00000112851 chr5:66050879-66050879;C/T missense_variant False ERBIN@p.S682F 1 0.3625 ENSG00000112851 chr5:66050924-66050924;C/T missense_variant False ERBIN@p.S844F 1 0.283018868 ENSG00000112851 chr5:66053849-66053849;C/T missense_variant False ERC1@p.E1085K 1 0.338842975 ENSG00000082805 chr12:1490132-1490132;G/A missense_variant False ERC1@p.L583V 1 0.179487179 ENSG00000082805 chr12:1180549-1180549;C/G missense_variant False ERC1@p.R169W 1 0.341772152 ENSG00000082805 chr12:1028408-1028408;C/T missense_variant False ERC2@p.A584V 1 0.142857143 ENSG00000187672 chr3:56018922-56018922;G/A missense_variant False ERC2@p.A724V 1 0.49537037 ENSG00000187672 chr3:55992141-55992141;G/A missense_variant False ERC2@p.A835T 1 0.514705882 ENSG00000187672 chr3:55888450-55888450;C/T missense_variant False ERC2@p.D914N 1 0.044444444 ENSG00000187672 chr3:55699485-55699485;C/T missense_variant False EPS8L2@p.V355Sfs*94 1 0.682539683 ENSG00000177106 chr11:722404-722404;G/- frameshift_variant False EPS8L2@p.S366C 1 0.202380952 ENSG00000177106 chr11:722438-722438;C/G missense_variant False EPS8L2@p.R76Q 1 0.25 ENSG00000177106 chr11:720123-720123;G/A missense_variant False EPHB6@p.E868K 1 0.142857143 ENSG00000106123 chr7:142869958-142869958;G/A missense_variant False EPHB6@p.R97Q 1 0.329073482 ENSG00000106123 chr7:142864090-142864090;G/A missense_variant False EPHB6@p.R301H 1 0.186046512 ENSG00000106123 chr7:142864702-142864702;G/A missense_variant False EPHB6@p.Q657E 1 0.69047619 ENSG00000106123 chr7:142868291-142868291;C/G missense_variant False EPHB6@p.Q247L 1 0.161971831 ENSG00000106123 chr7:142864540-142864540;A/T missense_variant False EPHB6@p.P885A 1 0.25308642 ENSG00000106123 chr7:142870256-142870256;C/G missense_variant False EPHB6@p.G849R 1 0.453125 ENSG00000106123 chr7:142869901-142869901;G/C missense_variant False EPHB6@p.E268Q 1 0.173913043 ENSG00000106123 chr7:142864602-142864602;G/C missense_variant False EPHB3@p.V633Sfs*6 1 0.153846154 ENSG00000182580 chr3:184579572-184579572;G/- frameshift_variant False EPHB4@p.R923T 1 0.3125 ENSG00000196411 chr7:100805232-100805232;C/G missense_variant False EPHB4@p.P287A 1 0.3290938 ENSG00000196411 chr7:100820246-100820246;G/C missense_variant False EPHB4@p.M824I 1 0.184210526 ENSG00000196411 chr7:100806432-100806432;C/T missense_variant False EPHB4@p.E423K 1 0.107692308 ENSG00000196411 chr7:100819587-100819587;C/T missense_variant False EPHB4@p.E405Q 1 0.089473684 ENSG00000196411 chr7:100819641-100819641;C/G missense_variant False EPHB4@p.D380H 1 0.214285714 ENSG00000196411 chr7:100819716-100819716;C/G missense_variant False EPHB6@p.V492I 1 0.214285714 ENSG00000106123 chr7:142866492-142866492;G/A missense_variant False EPHB6@p.V643L 1 0.272727273 ENSG00000106123 chr7:142868249-142868249;G/T missense_variant False EPHX1@p.A137V 1 0.118421053 ENSG00000143819 chr1:225838699-225838699;C/T missense_variant False EPHX1@p.E327Q 1 0.647058824 ENSG00000143819 chr1:225842413-225842413;G/C missense_variant False EPHX1@p.Y417H 1 0.176829268 ENSG00000143819 chr1:225845228-225845228;T/C missense_variant False EPHX2@p.D413G 1 0.148148148 ENSG00000120915 chr8:27536851-27536851;A/G missense_variant False EPHX2@p.E269D 1 0.090909091 ENSG00000120915 chr8:27515789-27515789;G/T missense_variant False EPHX2@p.E444K 1 0.40625 ENSG00000120915 chr8:27540607-27540607;G/A missense_variant False EPHX2@p.R113S 1 0.198529412 ENSG00000120915 chr8:27503756-27503756;G/T missense_variant False EPHX3@p.E294Q 1 0.145833333 ENSG00000105131 chr19:15227640-15227640;C/G missense_variant False EPHX3@p.F215L 1 0.307692308 ENSG00000105131 chr19:15228072-15228072;G/T missense_variant False EPHX3@p.I155M 1 0.322033898 ENSG00000105131 chr19:15231261-15231261;G/C missense_variant False EPHX3@p.L103M 1 0.428571429 ENSG00000105131 chr19:15231798-15231798;G/T missense_variant False EPHX3@p.R132Q 1 0.25 ENSG00000105131 chr19:15231331-15231331;C/T missense_variant False EPHX3@p.V127Afs*42 1 0.258064516 ENSG00000105131 chr19:15231333-15231346;CAAGTCCACAGCCA/- frameshift_variant False EPHX3@p.Y89C 1 0.102564103 ENSG00000105131 chr19:15231839-15231839;T/C missense_variant False EPHX4@p.E313K 1 0.395683453 ENSG00000172031 chr1:92063134-92063134;G/A missense_variant False EPHB3@p.W473C 1 0.355932203 ENSG00000182580 chr3:184577407-184577407;G/T missense_variant False EPHB3@p.S387L 1 0.115044248 ENSG00000182580 chr3:184576989-184576989;C/T missense_variant False EPM2A@p.D197H 1 0.171641791 ENSG00000112425 chr6:145635374-145635374;C/G missense_variant False EPHB1@p.G626R 1 0.259259259 ENSG00000154928 chr3:135179976-135179976;G/A missense_variant False EPHB1@p.R870W 1 0.481481481 ENSG00000154928 chr3:135248427-135248427;C/T missense_variant False EPHB1@p.P457Q 1 0.262068966 ENSG00000154928 chr3:135154224-135154224;C/A missense_variant False EPHB1@p.P197H 1 0.343023256 ENSG00000154928 chr3:134951837-134951837;C/A missense_variant False EPHB1@p.M700T 1 0.315068493 ENSG00000154928 chr3:135192792-135192792;T/C missense_variant False EPHB1@p.L6V 1 0.131147541 ENSG00000154928 chr3:134795647-134795647;C/G missense_variant False EPHB1@p.I439M 1 0.10880829 ENSG00000154928 chr3:135154171-135154171;C/G missense_variant False EPHA8@p.R270Q 1 0.148148148 ENSG00000070886 chr1:22576866-22576866;G/A missense_variant False EPHB3@p.R622W 1 0.053571429 ENSG00000182580 chr3:184579539-184579539;C/T missense_variant False EPHA8@p.Q731K 1 0.333333333 ENSG00000070886 chr1:22598850-22598850;C/A missense_variant False EPHA8@p.Q585E 1 0.098039216 ENSG00000070886 chr1:22596161-22596161;C/G missense_variant False EPHA8@p.M76I 1 0.161290323 ENSG00000070886 chr1:22576285-22576285;G/C missense_variant False EPHA8@p.L872F 1 0.396226415 ENSG00000070886 chr1:22600973-22600973;C/T missense_variant False EPHA8@p.L597V 1 0.055555556 ENSG00000070886 chr1:22597335-22597335;C/G missense_variant False EPHA8@p.G382S 1 0.366666667 ENSG00000070886 chr1:22589035-22589035;G/A missense_variant False EPHB1@p.R90C 1 0.135135135 ENSG00000154928 chr3:134951515-134951515;C/T missense_variant False EPHB1@p.S188C 1 0.063829787 ENSG00000154928 chr3:134951810-134951810;C/G missense_variant False EPHB1@p.S371F 1 0.528571429 ENSG00000154928 chr3:135132864-135132864;C/T missense_variant False EPHB1@p.V391F 1 0.163265306 ENSG00000154928 chr3:135132923-135132923;G/T missense_variant False EPHB1@p.V551M 1 0.119565217 ENSG00000154928 chr3:135166033-135166033;G/A missense_variant False EPHB1@p.V916M 1 0.535714286 ENSG00000154928 chr3:135249391-135249391;G/A missense_variant False EPHB2@p.E32K 1 0.358024691 ENSG00000133216 chr1:22781453-22781453;G/A missense_variant False EPHB2@p.G245C 1 0.105882353 ENSG00000133216 chr1:22784998-22784998;G/T missense_variant False EPHB2@p.M734I 1 0.088372093 ENSG00000133216 chr1:22908018-22908018;G/T missense_variant False EPHB2@p.S172T 1 0.285714286 ENSG00000133216 chr1:22784780-22784780;G/C missense_variant False EPHB2@p.S216T 1 0.230769231 ENSG00000133216 chr1:22784912-22784912;G/C missense_variant False EPHB2@p.S437P 1 0.454545455 ENSG00000133216 chr1:22882364-22882364;T/C missense_variant False EPHB3@p.A718T 1 0.156862745 ENSG00000182580 chr3:184579914-184579914;G/A missense_variant False EPHB3@p.D776Tfs*35 1 0.103448276 ENSG00000182580 chr3:184580554-184580554;A/- frameshift_variant False EPHB3@p.E636K 1 0.204081633 ENSG00000182580 chr3:184579581-184579581;G/A missense_variant False EPHB3@p.M505I 1 0.113475177 ENSG00000182580 chr3:184577693-184577693;G/A missense_variant False EPHB3@p.R326H 1 0.224 ENSG00000182580 chr3:184575950-184575950;G/A missense_variant False EPHX4@p.P183A 1 0.063694268 ENSG00000172031 chr1:92045603-92045603;C/G missense_variant False EPM2AIP1@p.A582S 1 0.075471698 ENSG00000178567 chr3:36991334-36991334;C/A missense_variant False EPS8L2@p.R20G 1 0.260869565 ENSG00000177106 chr11:709566-709566;C/G missense_variant False EPS15@p.A838V 1 0.370786517 ENSG00000085832 chr1:51361202-51361202;G/A missense_variant False EPS15@p.S435C 1 0.164556962 ENSG00000085832 chr1:51408305-51408305;T/A missense_variant False EPS15@p.N678S 1 0.463414634 ENSG00000085832 chr1:51399051-51399051;T/C missense_variant False EPS15@p.L478V 1 0.121405751 ENSG00000085832 chr1:51408176-51408176;G/C missense_variant False EPS15@p.K405N 1 0.272727273 ENSG00000085832 chr1:51409595-51409595;T/G missense_variant False EPS15@p.F73L 1 0.290322581 ENSG00000085832 chr1:51468563-51468563;G/C missense_variant False EPS15@p.D825H 1 0.118811881 ENSG00000085832 chr1:51361242-51361242;C/G missense_variant False EPS15@p.A830T 1 0.154929577 ENSG00000085832 chr1:51361227-51361227;C/T missense_variant False EPRS1@p.E37Q 1 0.134831461 ENSG00000136628 chr1:220040207-220040207;C/G missense_variant False EPS15@p.A420V 1 0.150943396 ENSG00000085832 chr1:51409551-51409551;G/A missense_variant False EPRS1@p.S954L 1 0.214285714 ENSG00000136628 chr1:219987319-219987319;G/A missense_variant False EPRS1@p.S739F 1 0.106060606 ENSG00000136628 chr1:219997308-219997308;G/A missense_variant False EPRS1@p.S5C 1 0.225806452 ENSG00000136628 chr1:220046375-220046375;G/C missense_variant False EPRS1@p.R765C 1 0.438202247 ENSG00000136628 chr1:219997231-219997231;G/A missense_variant False EPRS1@p.R358H 1 0.045454545 ENSG00000136628 chr1:220022389-220022389;C/T missense_variant False EPS15L1@p.L41F 1 0.160377358 ENSG00000127527 chr19:16441936-16441936;G/A missense_variant False EPS15L1@p.L508Nfs*40 1 0.109756098 ENSG00000127527 chr19:16403824-16403837;TCCTCCTGCTGCAA/- frameshift_variant False EPS15L1@p.Q446E 1 0.238095238 ENSG00000127527 chr19:16404680-16404680;G/C missense_variant False EPS15L1@p.S116C 1 0.381443299 ENSG00000127527 chr19:16436962-16436962;G/C missense_variant False EPS15L1@p.S146F 1 0.348547718 ENSG00000127527 chr19:16434426-16434426;G/A missense_variant False EPS8@p.D541H 1 0.393162393 ENSG00000151491 chr12:15641778-15641778;C/G missense_variant False EPS8@p.D817H 1 0.075 ENSG00000151491 chr12:15621337-15621337;C/G missense_variant False EPS8@p.K336T 1 0.323529412 ENSG00000151491 chr12:15658516-15658516;T/G missense_variant False EPS8@p.S502T 1 0.191780822 ENSG00000151491 chr12:15647191-15647191;A/T missense_variant False EPS8L1@p.E269Q 1 0.277777778 ENSG00000131037 chr19:55081803-55081803;G/C missense_variant False EPS8L1@p.E280Q 1 0.66 ENSG00000131037 chr19:55081836-55081836;G/C missense_variant False EPS8L1@p.R70P 1 0.234042553 ENSG00000131037 chr19:55079781-55079781;G/C missense_variant False EPS8L2@p.A474V 1 0.161904762 ENSG00000177106 chr11:723320-723320;C/T missense_variant False EPS8L2@p.E397Q 1 0.448275862 ENSG00000177106 chr11:722530-722530;G/C missense_variant False EPS8L2@p.H484D 1 0.205128205 ENSG00000177106 chr11:723349-723349;C/G missense_variant False EPS8L2@p.H484Y 1 0.482758621 ENSG00000177106 chr11:723349-723349;C/T missense_variant False EPS8L2@p.K600I 1 0.2 ENSG00000177106 chr11:726349-726349;A/T missense_variant False EPRS1@p.I1068M 1 0.422222222 ENSG00000136628 chr1:219983285-219983285;G/C missense_variant False EPRS1@p.E1398Q 1 0.411214953 ENSG00000136628 chr1:219973290-219973290;C/G missense_variant False EPM2AIP1@p.A582V 1 0.072727273 ENSG00000178567 chr3:36991333-36991333;G/A missense_variant False EPN2@p.Q110H 1 0.08490566 ENSG00000072134 chr17:19283449-19283449;G/C missense_variant False EPN3@p.S413F 1 0.470588235 ENSG00000049283 chr17:50541051-50541051;C/T missense_variant False EPN3@p.S351L 1 0.203389831 ENSG00000049283 chr17:50540865-50540865;C/T missense_variant False EPN3@p.R287T 1 0.22 ENSG00000049283 chr17:50539284-50539284;G/C missense_variant False EPN3@p.P533S 1 0.195652174 ENSG00000049283 chr17:50541855-50541855;C/T missense_variant False EPN2@p.S4L 1 0.642857143 ENSG00000072134 chr17:19283130-19283130;C/T missense_variant False EPN2@p.Q493E 1 0.195402299 ENSG00000072134 chr17:19331918-19331918;C/G missense_variant False EPN2@p.P372H 1 0.337606838 ENSG00000072134 chr17:19313247-19313247;C/A missense_variant False EPRS1@p.A616T 1 0.304093567 ENSG00000136628 chr1:220006210-220006210;C/T missense_variant False EPN2@p.G191D 1 0.35 ENSG00000072134 chr17:19283691-19283691;G/A missense_variant False EPN1@p.V516I 1 0.25 ENSG00000063245 chr19:55695171-55695171;G/A missense_variant False EPM2AIP1@p.V28A 1 0.788461538 ENSG00000178567 chr3:36992995-36992995;A/G missense_variant False EPM2AIP1@p.S302F 1 0.2 ENSG00000178567 chr3:36992173-36992173;G/A missense_variant False EPM2AIP1@p.L354V 1 0.0703125 ENSG00000178567 chr3:36992018-36992018;G/C missense_variant False EPM2AIP1@p.E470Q 1 0.204081633 ENSG00000178567 chr3:36991670-36991670;C/G missense_variant False EPO@p.L62F 1 0.170454545 ENSG00000130427 chr7:100721988-100721988;G/C missense_variant False EPO@p.R130C 1 0.642857143 ENSG00000130427 chr7:100722805-100722805;C/T missense_variant False EPOR@p.E158D 1 0.285714286 ENSG00000187266 chr19:11381803-11381803;C/G missense_variant False EPOR@p.G475E 1 0.284552846 ENSG00000187266 chr19:11378087-11378087;C/T missense_variant False EPOR@p.K281del 1 0.1 ENSG00000187266 chr19:11378762-11378764;TCT/- inframe_deletion False EPOR@p.R337H 1 0.222222222 ENSG00000187266 chr19:11378501-11378501;C/T missense_variant False EPPK1@p.A1258D 1 0.115384615 ENSG00000261150 chr8:143869481-143869481;G/T missense_variant False EPPK1@p.D655N 1 0.115384615 ENSG00000261150 chr8:143871291-143871291;C/T missense_variant False EPPK1@p.E1163Q 1 0.166666667 ENSG00000261150 chr8:143869767-143869767;C/G missense_variant False EPPK1@p.E1351K 1 0.277777778 ENSG00000261150 chr8:143869203-143869203;C/T missense_variant False EPPK1@p.E1627K 1 0.242105263 ENSG00000261150 chr8:143868375-143868375;C/T missense_variant False EPPK1@p.E1836Q 1 0.04743083 ENSG00000261150 chr8:143867748-143867748;C/G missense_variant False EPPK1@p.E460Q 1 0.590909091 ENSG00000261150 chr8:143871876-143871876;C/G missense_variant False EPPK1@p.F1402L 1 0.153846154 ENSG00000261150 chr8:143869048-143869048;G/T missense_variant False EPPK1@p.L2137V 1 0.122093023 ENSG00000261150 chr8:143866845-143866845;G/C missense_variant False EPPK1@p.P1136Q 1 0.333333333 ENSG00000261150 chr8:143869847-143869847;G/T missense_variant False EPPK1@p.R1874C 1 0.1875 ENSG00000261150 chr8:143867634-143867634;G/A missense_variant False FOXQ1@p.Y122Pfs*20 1 0.463414634 ENSG00000164379 chr6:1313061-1313062;-/CC frameshift_variant False FOXR2@p.D310H 1 0.75 ENSG00000189299 chrX:55624639-55624639;G/C missense_variant False FOXR2@p.E124K 1 0.142857143 ENSG00000189299 chrX:55624081-55624081;G/A missense_variant False GUCY2C@p.P349H 1 0.049773756 ENSG00000070019 chr12:14674663-14674663;G/T missense_variant False GUCY2D@p.G375R 1 0.37254902 ENSG00000132518 chr17:8006459-8006459;G/A missense_variant False GUCY2D@p.E897K 1 0.089285714 ENSG00000132518 chr17:8014971-8014971;G/A missense_variant False GUCY2D@p.E877Q 1 0.424242424 ENSG00000132518 chr17:8014911-8014911;G/C missense_variant False GUCY2D@p.D508Y 1 0.170731707 ENSG00000132518 chr17:8007484-8007484;G/T missense_variant False GUCY2C@p.R939C 1 0.323529412 ENSG00000070019 chr12:14619271-14619271;G/A missense_variant False GUCY2C@p.R694T 1 0.417475728 ENSG00000070019 chr12:14639938-14639938;C/G missense_variant False GUCY2C@p.L323V 1 0.12173913 ENSG00000070019 chr12:14674742-14674742;G/C missense_variant False GUCY2D@p.S317F 1 0.384615385 ENSG00000132518 chr17:8004080-8004080;C/T missense_variant False GUCY2C@p.L1022F 1 0.161616162 ENSG00000070019 chr12:14613273-14613273;C/G missense_variant False GUCY2C@p.H353D 1 0.134453782 ENSG00000070019 chr12:14674652-14674652;G/C missense_variant False GUCY2C@p.G549R 1 0.120481928 ENSG00000070019 chr12:14651472-14651472;C/G missense_variant False GUCY2C@p.F82L 1 0.454545455 ENSG00000070019 chr12:14688035-14688035;G/T missense_variant False GUCY2C@p.E101K 1 0.252252252 ENSG00000070019 chr12:14687980-14687980;C/T missense_variant False GUCY2C@p.D364N 1 0.230769231 ENSG00000070019 chr12:14672953-14672953;C/T missense_variant False GUCY2D@p.R761Q 1 0.083333333 ENSG00000132518 chr17:8013898-8013898;G/A missense_variant False GUCY2D@p.T962A 1 0.363636364 ENSG00000132518 chr17:8015442-8015442;A/G missense_variant False H1-7@p.R59K 1 0.636363636 ENSG00000187166 chr12:48329467-48329467;G/A missense_variant False GUF1@p.D657H 1 0.395348837 ENSG00000151806 chr4:44698640-44698640;G/C missense_variant False GUSB@p.D362G 1 0.1 ENSG00000169919 chr7:65974685-65974685;T/C missense_variant False GULP1@p.N235S 1 0.234693878 ENSG00000144366 chr2:188584359-188584359;A/G missense_variant False GULP1@p.G142S 1 0.125 ENSG00000144366 chr2:188569263-188569263;G/A missense_variant False GUK1@p.I118M 1 0.192771084 ENSG00000143774 chr1:228147508-228147508;C/G missense_variant False GUF1@p.M502I 1 0.375 ENSG00000151806 chr4:44691692-44691692;G/A missense_variant False GUF1@p.G37E 1 0.6 ENSG00000151806 chr4:44678732-44678732;G/A missense_variant False GUCY2F@p.W712C 1 0.472222222 ENSG00000101890 chrX:109398688-109398688;C/A missense_variant False GUCY2F@p.D343Y 1 0.9 ENSG00000101890 chrX:109465147-109465147;C/A missense_variant False GUCY2F@p.V975A 1 0.063492063 ENSG00000101890 chrX:109388521-109388521;A/G missense_variant False GUCY2F@p.S141R 1 0.531343284 ENSG00000101890 chrX:109475514-109475514;G/C missense_variant False GUCY2F@p.R826W 1 0.496183206 ENSG00000101890 chrX:109393004-109393004;G/A missense_variant False GUCY2F@p.R210W 1 0.293577982 ENSG00000101890 chrX:109475309-109475309;G/A missense_variant False GUCY2F@p.K1068E 1 0.864963504 ENSG00000101890 chrX:109376116-109376116;T/C missense_variant False GUCY2F@p.G1004R 1 0.384615385 ENSG00000101890 chrX:109385229-109385229;C/T missense_variant False GUCY2C@p.A208V 1 0.590909091 ENSG00000070019 chr12:14681466-14681466;G/A missense_variant False GUCY1B1@p.T349M 1 0.102564103 ENSG00000061918 chr4:155799945-155799945;C/T missense_variant False GUCY1B1@p.R95T 1 0.587301587 ENSG00000061918 chr4:155777629-155777629;G/C missense_variant False GUCA1B@p.R63Efs*20 1 0.2 ENSG00000112599 chr6:42194634-42194634;G/- frameshift_variant False GUCY1A1@p.D243H 1 0.237762238 ENSG00000164116 chr4:155710892-155710892;G/C missense_variant False GUCY1A1@p.D148N 1 0.271428571 ENSG00000164116 chr4:155710607-155710607;G/A missense_variant False GUCD1@p.T107I 1 0.310344828 ENSG00000138867 chr22:24546980-24546980;G/A missense_variant False GUCD1@p.G173S 1 0.363636364 ENSG00000138867 chr22:24543953-24543953;C/T missense_variant False GUCA1C@p.G4V 1 0.085526316 ENSG00000138472 chr3:108953752-108953752;C/A missense_variant False GUCA1C@p.E112K 1 0.333333333 ENSG00000138472 chr3:108920456-108920456;C/T missense_variant False GTSF1L@p.E137Q 1 0.641221374 ENSG00000124196 chr20:43726286-43726286;C/G missense_variant False GUCY1B1@p.G610A 1 0.857142857 ENSG00000061918 chr4:155805222-155805222;G/C missense_variant False GTSF1@p.S134G 1 0.392156863 ENSG00000170627 chr12:54460464-54460464;T/C missense_variant False GTSE1@p.R569C 1 0.222222222 ENSG00000075218 chr22:46326635-46326635;C/T missense_variant False GTSE1@p.L541Pfs*27 1 0.142857143 ENSG00000075218 chr22:46326549-46326550;-/C frameshift_variant False GTSE1@p.L456I 1 0.068965517 ENSG00000075218 chr22:46316346-46316346;C/A missense_variant False GTSE1@p.E258D 1 0.258064516 ENSG00000075218 chr22:46312152-46312152;G/C missense_variant False GTSE1@p.A105V 1 0.168539326 ENSG00000075218 chr22:46308495-46308495;C/T missense_variant False GUCY1A1@p.D530N 1 0.210526316 ENSG00000164116 chr4:155717174-155717174;G/A missense_variant False GUCY1A1@p.N319K 1 0.196969697 ENSG00000164116 chr4:155711122-155711122;T/G missense_variant False GUCY1A1@p.S135F 1 0.536231884 ENSG00000164116 chr4:155710569-155710569;C/T missense_variant False GUCY1A1@p.S384L 1 0.362068966 ENSG00000164116 chr4:155713162-155713162;C/T missense_variant False GUCY1A1@p.T96A 1 0.433962264 ENSG00000164116 chr4:155703962-155703962;A/G missense_variant False GUCY1A1@p.V225I 1 0.279279279 ENSG00000164116 chr4:155710838-155710838;G/A missense_variant False GUCY1A2@p.E669Q 1 0.445544554 ENSG00000152402 chr11:106687743-106687743;C/G missense_variant False GUCY1A2@p.G343V 1 0.409090909 ENSG00000152402 chr11:106939638-106939638;C/A missense_variant False GUCY1A2@p.H183Y 1 0.10989011 ENSG00000152402 chr11:106940119-106940119;G/A missense_variant False GUCY1A2@p.L594F 1 0.181818182 ENSG00000152402 chr11:106776493-106776493;C/G missense_variant False GUCY1A2@p.L710V 1 0.088888889 ENSG00000152402 chr11:106687620-106687620;G/C missense_variant False GUCY1A2@p.Q217Hfs*32 1 0.176470588 ENSG00000152402 chr11:106940000-106940015;TGACTCCAGAGTGGCC/- frameshift_variant False GUCY1A2@p.R172T 1 0.135802469 ENSG00000152402 chr11:106940151-106940151;C/G missense_variant False GUCY1A2@p.R655del 1 0.34375 ENSG00000152402 chr11:106708539-106708541;CGC/- inframe_deletion False GUCY1A2@p.S525L 1 0.292307692 ENSG00000152402 chr11:106810111-106810111;G/A missense_variant False GUCY1B1@p.E189Q 1 0.078125 ENSG00000061918 chr4:155793925-155793925;G/C missense_variant False GUCY1B1@p.E80K 1 0.16 ENSG00000061918 chr4:155777583-155777583;G/A missense_variant False GUSB@p.M430R 1 0.397222222 ENSG00000169919 chr7:65974397-65974397;A/C missense_variant False GXYLT2@p.E146K 1 0.523809524 ENSG00000172986 chr3:72908527-72908527;G/A missense_variant False GXYLT2@p.E379K 1 0.192307692 ENSG00000172986 chr3:72967705-72967705;G/A missense_variant False H1-0@p.S5F 1 0.466666667 ENSG00000189060 chr22:37805558-37805558;C/T missense_variant False H1-2@p.G114R 1 0.246268657 ENSG00000187837 chr6:26056089-26056089;C/G missense_variant False H1-2@p.D72H 1 0.166666667 ENSG00000187837 chr6:26056215-26056215;C/G missense_variant False H1-1@p.A68T 1 0.675324675 ENSG00000124610 chr6:26017531-26017531;C/T missense_variant False H1-10@p.S154F 1 0.25 ENSG00000184897 chr3:129315442-129315442;G/A missense_variant False H1-10@p.K37N 1 0.25 ENSG00000184897 chr3:129315792-129315792;C/G missense_variant False H1-0@p.S66L 1 0.430379747 ENSG00000189060 chr22:37805741-37805741;C/T missense_variant False H1-0@p.K149Q 1 0.571428571 ENSG00000189060 chr22:37805989-37805989;A/C missense_variant False GZMA@p.K259N 1 0.137931034 ENSG00000145649 chr5:55110170-55110170;G/C missense_variant False GZMM@p.S146N 1 0.25 ENSG00000197540 chr19:549010-549010;G/A missense_variant False GZMM@p.A239D 1 0.107692308 ENSG00000197540 chr19:549733-549733;C/A missense_variant False GZMK@p.F11V 1 0.441176471 ENSG00000113088 chr5:55024353-55024353;T/G missense_variant False GZMH@p.A99V 1 0.370967742 ENSG00000100450 chr14:24607655-24607655;G/A missense_variant False GZMB@p.Y181C 1 0.050505051 ENSG00000100453 chr14:24631916-24631916;T/C missense_variant False GZMB@p.V237E 1 0.201923077 ENSG00000100453 chr14:24631105-24631105;A/T missense_variant False H1-2@p.G125E 1 0.175824176 ENSG00000187837 chr6:26056055-26056055;C/T missense_variant False H1-2@p.K109N 1 0.438016529 ENSG00000187837 chr6:26056102-26056102;C/G missense_variant False H1-2@p.K172N 1 0.16509434 ENSG00000187837 chr6:26055913-26055913;C/G missense_variant False H1-2@p.K183N 1 0.357142857 ENSG00000187837 chr6:26055880-26055880;C/G missense_variant False H1-2@p.P147S 1 0.17877095 ENSG00000187837 chr6:26055990-26055990;G/A missense_variant False H1-2@p.S51* 1 0.140243902 ENSG00000187837 chr6:26056240-26056277;TTTCAGAGCAGCCAGAGAAACTCCGCTACGCTCTTTAG/- frameshift_variant False H1-3@p.D73N 1 0.416666667 ENSG00000124575 chr6:26234717-26234717;C/T missense_variant False H1-4@p.G103A 1 0.1 ENSG00000168298 chr6:26156698-26156698;G/C missense_variant False H1-4@p.K212N 1 0.129032258 ENSG00000168298 chr6:26157026-26157026;G/C missense_variant False H1-4@p.K217N 1 0.594594595 ENSG00000168298 chr6:26157041-26157041;G/C missense_variant False H1-4@p.Y71C 1 0.327272727 ENSG00000168298 chr6:26156602-26156602;A/G missense_variant False H1-5@p.A206T 1 0.180327869 ENSG00000184357 chr6:27866914-27866914;C/T missense_variant False H1-5@p.A218Pfs*? 1 0.212121212 ENSG00000184357 chr6:27866878-27866878;C/- frameshift_variant False H1-5@p.A34T 1 0.277777778 ENSG00000184357 chr6:27867430-27867430;C/T missense_variant False H1-5@p.P6A 1 0.109756098 ENSG00000184357 chr6:27867514-27867514;G/C missense_variant False H1-6@p.G95V 1 0.290322581 ENSG00000187475 chr6:26107810-26107810;C/A missense_variant False H1-7@p.A135V 1 0.314285714 ENSG00000187166 chr12:48329695-48329695;C/T missense_variant False GZMA@p.S13L 1 0.39516129 ENSG00000145649 chr5:55102720-55102720;C/T missense_variant False GZF1@p.T570Rfs*29 1 0.144736842 ENSG00000125812 chr20:23369661-23369662;CA/- frameshift_variant False GXYLT2@p.I249F 1 0.1875 ENSG00000172986 chr3:72955242-72955242;A/T missense_variant False GYPA@p.L128V 1 0.06 ENSG00000170180 chr4:144114743-144114743;G/C missense_variant False GYS1@p.F570L 1 0.197802198 ENSG00000104812 chr19:48970645-48970645;G/T missense_variant False GYS1@p.F220L 1 0.150943396 ENSG00000104812 chr19:48985868-48985868;G/C missense_variant False GYS1@p.E57K 1 0.184782609 ENSG00000104812 chr19:48991433-48991433;C/T missense_variant False GYS1@p.E31Q 1 0.260273973 ENSG00000104812 chr19:48993022-48993022;C/G missense_variant False GYS1@p.E19D 1 0.233333333 ENSG00000104812 chr19:48993056-48993056;C/A missense_variant False GYPB@p.S34L 1 0.282485876 ENSG00000250361 chr4:144001220-144001220;G/A missense_variant False GYPA@p.E141K 1 0.186046512 ENSG00000170180 chr4:144114704-144114704;C/T missense_variant False GZF1@p.E627K 1 0.238095238 ENSG00000125812 chr20:23370184-23370184;G/A missense_variant False GYG2@p.P387A 1 0.307692308 ENSG00000056998 chrX:2875837-2875837;C/G missense_variant False GYG2@p.E424A 1 0.117647059 ENSG00000056998 chrX:2877234-2877234;A/C missense_variant False GYG1@p.D65H 1 0.216494845 ENSG00000163754 chr3:148996351-148996351;G/C missense_variant False GYG1@p.D178N 1 0.202312139 ENSG00000163754 chr3:149009326-149009326;G/A missense_variant False GXYLT2@p.R277Q 1 0.2 ENSG00000172986 chr3:72955327-72955327;G/A missense_variant False GXYLT2@p.K248N 1 0.176470588 ENSG00000172986 chr3:72955241-72955241;G/C missense_variant False GYS1@p.L7V 1 0.350282486 ENSG00000104812 chr19:48993094-48993094;A/C missense_variant False GYS1@p.M427I 1 0.111111111 ENSG00000104812 chr19:48977951-48977951;C/G missense_variant False GYS1@p.M428I 1 0.219512195 ENSG00000104812 chr19:48977948-48977948;C/T missense_variant False GYS1@p.P414S 1 0.415662651 ENSG00000104812 chr19:48977992-48977992;G/A missense_variant False GYS1@p.P618L 1 0.4 ENSG00000104812 chr19:48969812-48969812;G/A missense_variant False GYS1@p.R386H 1 0.156862745 ENSG00000104812 chr19:48981542-48981542;C/T missense_variant False GYS2@p.D225H 1 0.777777778 ENSG00000111713 chr12:21574149-21574149;C/G missense_variant False GYS2@p.E21Q 1 0.340909091 ENSG00000111713 chr12:21604532-21604532;C/G missense_variant False GYS2@p.E265K 1 0.26 ENSG00000111713 chr12:21568895-21568895;C/T missense_variant False GYS2@p.N680H 1 0.258426966 ENSG00000111713 chr12:21537028-21537028;T/G missense_variant False GYS2@p.Q294E 1 0.379032258 ENSG00000111713 chr12:21563289-21563289;G/C missense_variant False GYS2@p.R241Q 1 0.139037433 ENSG00000111713 chr12:21568966-21568966;C/T missense_variant False GYS2@p.S593L 1 0.137755102 ENSG00000111713 chr12:21540441-21540441;G/A missense_variant False GYS2@p.V308F 1 0.652173913 ENSG00000111713 chr12:21563247-21563247;C/A missense_variant False GYS2@p.V497L 1 0.473684211 ENSG00000111713 chr12:21546404-21546404;C/G missense_variant False GYS2@p.Y242H 1 0.063492063 ENSG00000111713 chr12:21568964-21568964;A/G missense_variant False GZF1@p.E289Q 1 0.085714286 ENSG00000125812 chr20:23365248-23365248;G/C missense_variant False GTPBP8@p.P106S 1 0.325 ENSG00000163607 chr3:112991315-112991315;C/T missense_variant False GTPBP8@p.E35K 1 0.288888889 ENSG00000163607 chr3:112991102-112991102;G/A missense_variant False GTPBP6@p.G472V 1 0.178571429 ENSG00000292358 chrX:307372-307372;C/A missense_variant False GTF2E2@p.D196N 1 0.58974359 ENSG00000197265 chr8:30607114-30607114;C/T missense_variant False GTF2F2@p.E122K 1 0.388888889 ENSG00000188342 chr13:45207483-45207483;G/A missense_variant False GTF2F1@p.S442L 1 0.203389831 ENSG00000125651 chr19:6380597-6380597;G/A missense_variant False GTF2F1@p.S355N 1 0.533333333 ENSG00000125651 chr19:6381150-6381150;C/T missense_variant False GTF2F1@p.R153C 1 0.212121212 ENSG00000125651 chr19:6387429-6387429;G/A missense_variant False GTF2F1@p.E78D 1 0.153153153 ENSG00000125651 chr19:6389536-6389536;C/G missense_variant False GTF2E2@p.L97V 1 0.283018868 ENSG00000197265 chr8:30614685-30614685;G/C missense_variant False GTF2E1@p.S334C 1 0.322580645 ENSG00000153767 chr3:120781151-120781151;C/G missense_variant False GTDC1@p.F372L 1 0.438596491 ENSG00000121964 chr2:143957209-143957209;G/T missense_variant False GTF2E1@p.R16Q 1 0.051851852 ENSG00000153767 chr3:120750599-120750599;G/A missense_variant False GTF2E1@p.I114M 1 0.317647059 ENSG00000153767 chr3:120750894-120750894;T/G missense_variant False GTF2E1@p.E79Q 1 0.153061224 ENSG00000153767 chr3:120750787-120750787;G/C missense_variant False GTF2B@p.K189E 1 0.162790698 ENSG00000137947 chr1:88857458-88857458;T/C missense_variant False GTF2A1@p.S181L 1 0.734939759 ENSG00000165417 chr14:81196178-81196178;G/A missense_variant False GTF2A1@p.E297G 1 0.267716535 ENSG00000165417 chr14:81192562-81192562;T/C missense_variant False GTF2F2@p.S135C 1 0.514285714 ENSG00000188342 chr13:45252888-45252888;C/G missense_variant False GTF2H1@p.C246F 1 0.12804878 ENSG00000110768 chr11:18341390-18341390;G/T missense_variant False GTF2H1@p.D173N 1 0.081081081 ENSG00000110768 chr11:18339567-18339567;G/A missense_variant False GTF2H1@p.M215I 1 0.266666667 ENSG00000110768 chr11:18341298-18341298;G/C missense_variant False GTF2H3@p.E113K 1 0.16091954 ENSG00000111358 chr12:123648099-123648099;G/A missense_variant False GTF2H3@p.F50L 1 0.238095238 ENSG00000111358 chr12:123645511-123645511;C/A missense_variant False GTF2H3@p.Q65E 1 0.153846154 ENSG00000111358 chr12:123645554-123645554;C/G missense_variant False GTF2H4@p.F433L 1 0.107142857 ENSG00000213780 chr6:30913893-30913893;C/G missense_variant False GTF2I@p.D449H 1 0.323741007 ENSG00000263001 chr7:74733963-74733963;G/C missense_variant False GTF2I@p.E437Q 1 0.123287671 ENSG00000263001 chr7:74733927-74733927;G/C missense_variant False GTF2I@p.I218M 1 0.327868852 ENSG00000263001 chr7:74706402-74706402;C/G missense_variant False GTF2I@p.L446V 1 0.156028369 ENSG00000263001 chr7:74733954-74733954;T/G missense_variant False GTF2I@p.P211A 1 0.163934426 ENSG00000263001 chr7:74705208-74705208;C/G missense_variant False GTF2I@p.P257R 1 0.102325581 ENSG00000263001 chr7:74714863-74714863;C/G missense_variant False GTF2I@p.Q250E 1 0.23943662 ENSG00000263001 chr7:74711094-74711094;C/G missense_variant False GTF2I@p.Q989E 1 0.3125 ENSG00000263001 chr7:74758806-74758806;C/G missense_variant False GTF2I@p.R20S 1 0.294871795 ENSG00000263001 chr7:74689188-74689188;G/C missense_variant False GTDC1@p.S154R 1 0.223404255 ENSG00000121964 chr2:144141941-144141941;G/C missense_variant False GSX2@p.E287K 1 0.555555556 ENSG00000180613 chr4:54101866-54101866;G/A missense_variant False GTF2I@p.S453L 1 0.329411765 ENSG00000263001 chr7:74733976-74733976;C/T missense_variant False GSTA1@p.S142R 1 0.113636364 ENSG00000243955 chr6:52792976-52792976;G/T missense_variant False GSTA5@p.K218N 1 0.162601626 ENSG00000182793 chr6:52831863-52831863;C/G missense_variant False GSTA5@p.I60M 1 0.142857143 ENSG00000182793 chr6:52836328-52836328;A/C missense_variant False GSTA4@p.E59K 1 0.170731707 ENSG00000170899 chr6:52985548-52985548;C/T missense_variant False GSTA3@p.D93H 1 0.13253012 ENSG00000174156 chr6:52900071-52900071;C/G missense_variant False GSTA2@p.K195N 1 0.587628866 ENSG00000244067 chr6:52750661-52750661;C/G missense_variant False GSTA2@p.G27A 1 0.313432836 ENSG00000244067 chr6:52757868-52757868;C/G missense_variant False GSTA1@p.L107V 1 0.181818182 ENSG00000243955 chr6:52794220-52794220;G/C missense_variant False GSX1@p.H133Y 1 0.206896552 ENSG00000169840 chr13:27793087-27793087;C/T missense_variant False GSTA1@p.I124M 1 0.513513514 ENSG00000243955 chr6:52794167-52794167;G/C missense_variant False GSTA1@p.D118H 1 0.156682028 ENSG00000243955 chr6:52794187-52794187;C/G missense_variant False GSS@p.R332C 1 0.307692308 ENSG00000100983 chr20:34931974-34931974;G/A missense_variant False GSS@p.R313K 1 0.102272727 ENSG00000100983 chr20:34932030-34932030;C/T missense_variant False GSS@p.R273C 1 0.418918919 ENSG00000100983 chr20:34935593-34935593;G/A missense_variant False GSS@p.R102C 1 0.357142857 ENSG00000100983 chr20:34942978-34942978;G/A missense_variant False GSTCD@p.K482N 1 0.127906977 ENSG00000138780 chr4:105825716-105825716;G/C missense_variant False GSTCD@p.R480C 1 0.375 ENSG00000138780 chr4:105825708-105825708;C/T missense_variant False GSTK1@p.E93Q 1 0.342723005 ENSG00000197448 chr7:143264670-143264670;G/C missense_variant False GSTM1@p.P118A 1 0.307692308 ENSG00000134184 chr1:109689317-109689317;C/G missense_variant False GSTM2@p.E126K 1 0.478873239 ENSG00000213366 chr1:109671302-109671302;G/A missense_variant False GSTM2@p.I159Mfs*21 1 0.098039216 ENSG00000213366 chr1:109671489-109671495;TCATCGC/- frameshift_variant False GSTM2@p.N193K 1 0.6 ENSG00000213366 chr1:109708492-109708492;T/A missense_variant False GSTM3@p.R15C 1 0.178571429 ENSG00000134202 chr1:109740245-109740245;G/A missense_variant False GSTM5@p.D162H 1 0.054945055 ENSG00000134201 chr1:109715157-109715157;G/C missense_variant False GSTM5@p.E130K 1 0.24137931 ENSG00000134201 chr1:109714974-109714974;G/A missense_variant False GSTO1@p.D138Y 1 0.545454545 ENSG00000148834 chr10:104263024-104263024;G/T missense_variant False GSTO1@p.R132K 1 0.464285714 ENSG00000148834 chr10:104263007-104263007;G/A missense_variant False GSTO2@p.I24S 1 0.114035088 ENSG00000065621 chr10:104275262-104275262;T/G missense_variant False GSTP1@p.G146V 1 0.36 ENSG00000084207 chr11:67586204-67586204;G/T missense_variant False GSTT2B@p.E182K 1 0.307692308 ENSG00000133433 chr22:23957914-23957914;C/T missense_variant False GSTT2B@p.E204K 1 0.069892473 ENSG00000133433 chr22:23957848-23957848;C/T missense_variant False GSTZ1@p.I189M 1 0.516949153 ENSG00000100577 chr14:77331111-77331111;C/G missense_variant False GTF2I@p.R428T 1 0.079365079 ENSG00000263001 chr7:74732641-74732641;G/C missense_variant False GTF2I@p.S860L 1 0.127388535 ENSG00000263001 chr7:74753115-74753115;C/T missense_variant False GTPBP4@p.R572Q 1 0.426160338 ENSG00000107937 chr10:1015859-1015859;G/A missense_variant False GTF3C3@p.L588V 1 0.285714286 ENSG00000119041 chr2:196775185-196775185;G/C missense_variant False GTF3C4@p.F573C 1 0.390862944 ENSG00000125484 chr9:132679337-132679337;T/G missense_variant False GTF3C4@p.E694K 1 0.356321839 ENSG00000125484 chr9:132679699-132679699;G/A missense_variant False GTF3C4@p.E210Q 1 0.228915663 ENSG00000125484 chr9:132678247-132678247;G/C missense_variant False GTF3C4@p.A135T 1 0.25 ENSG00000125484 chr9:132678022-132678022;G/A missense_variant False GTF3C3@p.S713F 1 0.619047619 ENSG00000119041 chr2:196771870-196771870;G/A missense_variant False GTF3C3@p.Q708E 1 0.174757282 ENSG00000119041 chr2:196771886-196771886;G/C missense_variant False GTF3C3@p.E19Q 1 0.138686131 ENSG00000119041 chr2:196799557-196799557;C/G missense_variant False GTF3C2@p.D35N 1 0.292929293 ENSG00000115207 chr2:27343452-27343452;C/T missense_variant False GTF3C3@p.E100K 1 0.307692308 ENSG00000119041 chr2:196793069-196793069;C/T missense_variant False GTF3C2@p.S419C 1 0.197674419 ENSG00000115207 chr2:27336297-27336297;G/C missense_variant False GTF3C2@p.R645C 1 0.233009709 ENSG00000115207 chr2:27329227-27329227;G/A missense_variant False GTF3C2@p.Q166E 1 0.132075472 ENSG00000115207 chr2:27342899-27342899;G/C missense_variant False GTF3C2@p.F628L 1 0.052380952 ENSG00000115207 chr2:27329276-27329276;G/T missense_variant False GTF3C2@p.E72Q 1 0.236714976 ENSG00000115207 chr2:27343341-27343341;C/G missense_variant False GTF3C4@p.H414R 1 0.21875 ENSG00000125484 chr9:132678860-132678860;A/G missense_variant False GTF3C4@p.N346D 1 0.177419355 ENSG00000125484 chr9:132678655-132678655;A/G missense_variant False GTF3C5@p.E4Q 1 0.230769231 ENSG00000148308 chr9:133031021-133031021;G/C missense_variant False GTF3C5@p.Q317E 1 0.37704918 ENSG00000148308 chr9:133053903-133053903;C/G missense_variant False GTPBP1@p.C241Y 1 0.144329897 ENSG00000100226 chr22:38716888-38716888;G/A missense_variant False GTPBP1@p.D273* 1 0.212765957 ENSG00000100226 chr22:38716981-38716982;-/T frameshift_variant False GTPBP1@p.G91E 1 0.71641791 ENSG00000100226 chr22:38708924-38708924;G/A missense_variant False GTPBP2@p.E595K 1 0.18 ENSG00000172432 chr6:43621640-43621640;C/T missense_variant False GTPBP2@p.L392M 1 0.282051282 ENSG00000172432 chr6:43623995-43623995;G/T missense_variant False GTPBP2@p.P39L 1 0.529411765 ENSG00000172432 chr6:43629047-43629047;G/A missense_variant False GTPBP2@p.S183C 1 0.561643836 ENSG00000172432 chr6:43625520-43625520;G/C missense_variant False GTPBP2@p.S217F 1 0.297520661 ENSG00000172432 chr6:43625418-43625418;G/A missense_variant False GTPBP2@p.V177I 1 0.195121951 ENSG00000172432 chr6:43625539-43625539;C/T missense_variant False GTPBP3@p.D443N 1 0.130952381 ENSG00000130299 chr19:17341551-17341551;G/A missense_variant False GTPBP3@p.E459Q 1 0.266666667 ENSG00000130299 chr19:17341599-17341599;G/C missense_variant False GTPBP3@p.L445V 1 0.269230769 ENSG00000130299 chr19:17341557-17341557;C/G missense_variant False GTPBP3@p.P291L 1 0.347826087 ENSG00000130299 chr19:17339497-17339497;C/T missense_variant False GTF3C2@p.E660K 1 0.051020408 ENSG00000115207 chr2:27329182-27329182;C/T missense_variant False GTF3C1@p.S501F 1 0.1875 ENSG00000077235 chr16:27506897-27506897;G/A missense_variant False GTF2IRD1@p.E269Q 1 0.224137931 ENSG00000006704 chr7:74519608-74519608;G/C missense_variant False GTF2IRD2@p.E729Q 1 0.447368421 ENSG00000196275 chr7:74797327-74797327;C/G missense_variant False GTF2IRD2B@p.E864Q 1 0.368421053 ENSG00000174428 chr7:75149037-75149037;G/C missense_variant False GTF2IRD2B@p.E863D 1 0.375 ENSG00000174428 chr7:75149036-75149036;G/C missense_variant False GTF2IRD2B@p.E600K 1 0.61971831 ENSG00000174428 chr7:75148245-75148245;G/A missense_variant False GTF2IRD2B@p.C682F 1 0.181818182 ENSG00000174428 chr7:75148492-75148492;G/T missense_variant False GTF2IRD2@p.N628S 1 0.152542373 ENSG00000196275 chr7:74797629-74797629;T/C missense_variant False GTF2IRD2@p.K636N 1 0.146666667 ENSG00000196275 chr7:74797604-74797604;C/G missense_variant False GTF2IRD2@p.E710K 1 0.315789474 ENSG00000196275 chr7:74797384-74797384;C/T missense_variant False GTF3C1@p.S1560L 1 0.362637363 ENSG00000077235 chr16:27470243-27470243;G/A missense_variant False GTF2IRD2@p.E430Q 1 0.177777778 ENSG00000196275 chr7:74798224-74798224;C/G missense_variant False GTF2IRD2@p.E14Q 1 0.204081633 ENSG00000196275 chr7:74836339-74836339;C/G missense_variant False GTF2IRD1@p.R803L 1 0.302325581 ENSG00000006704 chr7:74589893-74589893;G/T missense_variant False GTF2IRD1@p.L139V 1 0.944444444 ENSG00000006704 chr7:74515590-74515590;C/G missense_variant False GTF2IRD1@p.K201R 1 0.130434783 ENSG00000006704 chr7:74518319-74518319;A/G missense_variant False GTF2IRD1@p.E516Q 1 0.227272727 ENSG00000006704 chr7:74539896-74539896;G/C missense_variant False GTF2IRD2B@p.V625M 1 0.405405405 ENSG00000174428 chr7:75148320-75148320;G/A missense_variant False GTF2IRD2B@p.W534R 1 0.206896552 ENSG00000174428 chr7:75148047-75148047;T/C missense_variant False GTF3C1@p.A1922V 1 0.297297297 ENSG00000077235 chr16:27464427-27464427;G/A missense_variant False GTF3C1@p.D2088N 1 0.265151515 ENSG00000077235 chr16:27461418-27461418;C/T missense_variant False GTF3C1@p.D572E 1 0.35 ENSG00000077235 chr16:27505953-27505953;G/C missense_variant False GTF3C1@p.D572H 1 0.204081633 ENSG00000077235 chr16:27505955-27505955;C/G missense_variant False GTF3C1@p.E10K 1 0.147058824 ENSG00000077235 chr16:27549863-27549863;C/T missense_variant False GTF3C1@p.E1917K 1 0.50209205 ENSG00000077235 chr16:27464443-27464443;C/T missense_variant False GTF3C1@p.E2042K 1 0.321428571 ENSG00000077235 chr16:27461556-27461556;C/T missense_variant False GTF3C1@p.E29D 1 0.489795918 ENSG00000077235 chr16:27549804-27549804;C/G missense_variant False GTF3C1@p.K427N 1 0.193548387 ENSG00000077235 chr16:27507118-27507118;C/G missense_variant False GTF3C1@p.L162F 1 0.231884058 ENSG00000077235 chr16:27538302-27538302;C/G missense_variant False GTF3C1@p.P91L 1 0.193548387 ENSG00000077235 chr16:27545473-27545473;G/A missense_variant False GTF3C1@p.R128K 1 0.103773585 ENSG00000077235 chr16:27545362-27545362;C/T missense_variant False GTF3C1@p.R505P 1 0.315789474 ENSG00000077235 chr16:27506885-27506885;C/G missense_variant False GTF3C1@p.S1380L 1 0.30952381 ENSG00000077235 chr16:27481136-27481136;G/A missense_variant False GTF3C1@p.S1385F 1 0.523809524 ENSG00000077235 chr16:27481121-27481121;G/A missense_variant False H1-7@p.A150T 1 0.21875 ENSG00000187166 chr12:48329739-48329739;G/A missense_variant False H1-7@p.V221M 1 0.153846154 ENSG00000187166 chr12:48329952-48329952;G/A missense_variant False GSR@p.S216N 1 0.490196078 ENSG00000104687 chr8:30700129-30700129;C/T missense_variant False HACL1@p.G290A 1 0.169014085 ENSG00000131373 chr3:15575017-15575017;C/G missense_variant False HACL1@p.S553F 1 0.160714286 ENSG00000131373 chr3:15563404-15563404;G/A missense_variant False HACL1@p.S183C 1 0.242236025 ENSG00000131373 chr3:15585254-15585254;G/C missense_variant False HACL1@p.M57I 1 0.114285714 ENSG00000131373 chr3:15601105-15601105;C/T missense_variant False HACL1@p.M249V 1 0.406593407 ENSG00000131373 chr3:15579968-15579968;T/C missense_variant False HACL1@p.L554F 1 0.178571429 ENSG00000131373 chr3:15563402-15563402;G/A missense_variant False HACL1@p.H288D 1 0.291666667 ENSG00000131373 chr3:15575024-15575024;G/C missense_variant False HACL1@p.E8Q 1 0.128787879 ENSG00000131373 chr3:15601442-15601442;C/G missense_variant False HADH@p.S15L 1 0.068181818 ENSG00000138796 chr4:107989976-107989976;C/T missense_variant False HACL1@p.E42K 1 0.166666667 ENSG00000131373 chr3:15601152-15601152;C/T missense_variant False HACL1@p.E355Q 1 0.494505495 ENSG00000131373 chr3:15571700-15571700;C/G missense_variant False HACL1@p.E231D 1 0.415384615 ENSG00000131373 chr3:15580020-15580020;C/G missense_variant False HACE1@p.R332Q 1 0.475177305 ENSG00000085382 chr6:104791583-104791583;C/T missense_variant False HACE1@p.I757M 1 0.2 ENSG00000085382 chr6:104750413-104750413;G/C missense_variant False HACE1@p.G902D 1 0.397435897 ENSG00000085382 chr6:104729687-104729687;C/T missense_variant False HADH@p.E129K 1 0.364485981 ENSG00000138796 chr4:108014554-108014554;G/A missense_variant False HADH@p.S21W 1 0.257142857 ENSG00000138796 chr4:107989994-107989994;C/G missense_variant False H1-8@p.E259Q 1 0.5 ENSG00000178804 chr3:129550777-129550777;G/C missense_variant False HAL@p.R624K 1 0.090909091 ENSG00000084110 chr12:95974335-95974335;C/T missense_variant False HAND2@p.L189F 1 0.257142857 ENSG00000164107 chr4:173527364-173527364;C/G missense_variant False HAND2@p.E124Q 1 0.247826087 ENSG00000164107 chr4:173528920-173528920;C/G missense_variant False HAND1@p.S33L 1 0.248322148 ENSG00000113196 chr5:154477911-154477911;G/A missense_variant False HAND1@p.S156F 1 0.584 ENSG00000113196 chr5:154477542-154477542;G/A missense_variant False HAND1@p.I133M 1 0.25 ENSG00000113196 chr5:154477610-154477610;G/C missense_variant False HAMP@p.S4_I7del 1 0.261627907 ENSG00000105697 chr19:35282587-35282598;AGCTCCCAGATC/- inframe_deletion False HAL@p.L453V 1 0.25 ENSG00000084110 chr12:95980718-95980718;G/C missense_variant False HADHA@p.E266Q 1 0.331932773 ENSG00000084754 chr2:26215056-26215056;C/G missense_variant False HAL@p.E565Q 1 0.449438202 ENSG00000084110 chr12:95976668-95976668;C/G missense_variant False HAL@p.E30K 1 0.170212766 ENSG00000084110 chr12:95995823-95995823;C/T missense_variant False HAGH@p.D67N 1 0.119402985 ENSG00000063854 chr16:1822915-1822915;C/T missense_variant False HADHB@p.D372N 1 0.347826087 ENSG00000138029 chr2:26284169-26284169;G/A missense_variant False HADHA@p.R680T 1 0.392523364 ENSG00000084754 chr2:26191590-26191590;C/G missense_variant False HADHA@p.E439Q 1 0.298245614 ENSG00000084754 chr2:26201226-26201226;C/G missense_variant False HACE1@p.E826K 1 0.440860215 ENSG00000085382 chr6:104744197-104744197;C/T missense_variant False HACD4@p.L20V 1 0.25 ENSG00000188921 chr9:21029379-21029379;G/C missense_variant False HACD4@p.H213Y 1 0.234375 ENSG00000188921 chr9:21007099-21007099;G/A missense_variant False H4C5@p.E53K 1 0.113636364 ENSG00000276966 chr6:26204801-26204801;G/A missense_variant False H4C9@p.I51M 1 0.559808612 ENSG00000276180 chr6:27139461-27139461;C/G missense_variant False H4C9@p.E53Q 1 0.084337349 ENSG00000276180 chr6:27139465-27139465;G/C missense_variant False H4C8@p.S2C 1 0.208791209 ENSG00000158406 chr6:26285495-26285495;G/C missense_variant False H4C6@p.R40Q 1 0.2 ENSG00000274618 chr6:26240544-26240544;G/A missense_variant False H4C5@p.R36W 1 0.50617284 ENSG00000276966 chr6:26204750-26204750;C/T missense_variant False H4C5@p.G10R 1 0.368421053 ENSG00000276966 chr6:26204672-26204672;G/A missense_variant False H4C5@p.D25H 1 0.255102041 ENSG00000276966 chr6:26204717-26204717;G/C missense_variant False HACD4@p.H213N 1 0.359550562 ENSG00000188921 chr9:21007099-21007099;G/T missense_variant False H4C4@p.R40C 1 0.094488189 ENSG00000277157 chr6:26188959-26188959;G/A missense_variant False H4C4@p.L11_R18del 1 0.246153846 ENSG00000277157 chr6:26189022-26189045;GACGCTTGGCGCCACCCTTACCTA/- inframe_deletion False H4C4@p.G3A 1 0.682539683 ENSG00000277157 chr6:26189069-26189069;C/G missense_variant False H4C4@p.E64Q 1 0.631578947 ENSG00000277157 chr6:26188887-26188887;C/G missense_variant False H4C3@p.L50V 1 0.796610169 ENSG00000197061 chr6:26104095-26104095;C/G missense_variant False H4C3@p.G57V 1 0.168674699 ENSG00000197061 chr6:26104117-26104117;G/T missense_variant False H4C9@p.S48C 1 0.428571429 ENSG00000276180 chr6:27139451-27139451;C/G missense_variant False H4C9@p.T74K 1 0.294117647 ENSG00000276180 chr6:27139529-27139529;C/A missense_variant False H4C9@p.V87M 1 0.810810811 ENSG00000276180 chr6:27139567-27139567;G/A missense_variant False H4C9@p.V88F 1 0.1015625 ENSG00000276180 chr6:27139570-27139570;G/T missense_variant False H6PD@p.G405C 1 0.387755102 ENSG00000049239 chr1:9263706-9263706;G/T missense_variant False H6PD@p.G533V 1 0.263157895 ENSG00000049239 chr1:9264091-9264091;G/T missense_variant False H6PD@p.N632D 1 0.230769231 ENSG00000049239 chr1:9264387-9264387;A/G missense_variant False H6PD@p.R519W 1 0.083333333 ENSG00000049239 chr1:9264048-9264048;C/T missense_variant False H6PD@p.R760W 1 0.279069767 ENSG00000049239 chr1:9264771-9264771;C/T missense_variant False H6PD@p.S730I 1 0.210526316 ENSG00000049239 chr1:9264682-9264682;G/T missense_variant False H6PD@p.V380M 1 0.091954023 ENSG00000049239 chr1:9263631-9263631;G/A missense_variant False HAAO@p.V226E 1 0.466666667 ENSG00000162882 chr2:42767882-42767882;A/T missense_variant False HABP2@p.C165S 1 0.119047619 ENSG00000148702 chr10:113578070-113578070;T/A missense_variant False HABP2@p.D438H 1 0.392857143 ENSG00000148702 chr10:113584222-113584222;G/C missense_variant False HACD1@p.E179K 1 0.37254902 ENSG00000165996 chr10:17599360-17599360;C/T missense_variant False HACD1@p.R148I 1 0.333333333 ENSG00000165996 chr10:17603600-17603600;C/A missense_variant False HACD3@p.S114C 1 0.222222222 ENSG00000074696 chr15:65556875-65556875;C/G missense_variant False HAO1@p.A322D 1 0.118644068 ENSG00000101323 chr20:7885713-7885713;G/T missense_variant False HAO1@p.H260D 1 0.36440678 ENSG00000101323 chr20:7895168-7895168;G/C missense_variant False HAO1@p.M344V 1 0.362068966 ENSG00000101323 chr20:7885533-7885533;T/C missense_variant False HAT1@p.R357K 1 0.062992126 ENSG00000128708 chr2:171979341-171979341;G/A missense_variant False HAUS3@p.E55Q 1 0.382113821 ENSG00000214367 chr4:2240784-2240784;C/G missense_variant False HAUS3@p.E472Q 1 0.113333333 ENSG00000214367 chr4:2236392-2236392;C/G missense_variant False HAUS3@p.E458Q 1 0.389830508 ENSG00000214367 chr4:2236434-2236434;C/G missense_variant False HAUS3@p.D96Y 1 0.295774648 ENSG00000214367 chr4:2240661-2240661;C/A missense_variant False HAUS3@p.A127V 1 0.444444444 ENSG00000214367 chr4:2240567-2240567;G/A missense_variant False HAUS2@p.R110S 1 0.131868132 ENSG00000137814 chr15:42561343-42561343;G/C missense_variant False HAT1@p.R286Q 1 0.322033898 ENSG00000128708 chr2:171976190-171976190;G/A missense_variant False HAS3@p.E66Q 1 0.209302326 ENSG00000103044 chr16:69109591-69109591;G/C missense_variant False HAT1@p.L203V 1 0.144927536 ENSG00000128708 chr2:171965904-171965904;C/G missense_variant False HAT1@p.G118A 1 0.153846154 ENSG00000128708 chr2:171965381-171965381;G/C missense_variant False HASPIN@p.S627R 1 0.166666667 ENSG00000177602 chr17:3725814-3725814;A/C missense_variant False HASPIN@p.S4W 1 0.414634146 ENSG00000177602 chr17:3723946-3723946;C/G missense_variant False HASPIN@p.Q500E 1 0.842105263 ENSG00000177602 chr17:3725433-3725433;C/G missense_variant False HASPIN@p.K672N 1 0.368932039 ENSG00000177602 chr17:3725951-3725951;G/C missense_variant False HAUS3@p.E57Q 1 0.190082645 ENSG00000214367 chr4:2240778-2240778;C/G missense_variant False HAUS3@p.L542V 1 0.153846154 ENSG00000214367 chr4:2232115-2232115;G/C missense_variant False HAUS3@p.P191S 1 0.15625 ENSG00000214367 chr4:2240376-2240376;G/A missense_variant False HAUS3@p.Q330E 1 0.344827586 ENSG00000214367 chr4:2238965-2238965;G/C missense_variant False HAUS3@p.S38L 1 0.198198198 ENSG00000214367 chr4:2240834-2240834;G/A missense_variant False HAUS4@p.E169Q 1 0.214285714 ENSG00000092036 chr14:22950371-22950371;C/G missense_variant False HAUS4@p.E332K 1 0.216216216 ENSG00000092036 chr14:22946623-22946623;C/T missense_variant False HAUS5@p.A256T 1 0.4 ENSG00000249115 chr19:35618140-35618140;G/A missense_variant False HAUS5@p.D145H 1 0.571428571 ENSG00000249115 chr19:35615334-35615334;G/C missense_variant False HAUS5@p.E253Q 1 0.098765432 ENSG00000249115 chr19:35618131-35618131;G/C missense_variant False HAUS5@p.R144Q 1 0.592592593 ENSG00000249115 chr19:35615332-35615332;G/A missense_variant False HAUS5@p.T105A 1 0.454545455 ENSG00000249115 chr19:35615135-35615135;A/G missense_variant False HAUS6@p.E153Q 1 0.333333333 ENSG00000147874 chr9:19089539-19089539;C/G missense_variant False HAUS6@p.E338K 1 0.339285714 ENSG00000147874 chr9:19080531-19080531;C/T missense_variant False HAUS6@p.H126Y 1 0.170731707 ENSG00000147874 chr9:19093231-19093231;G/A missense_variant False HAUS6@p.I215M 1 0.413793103 ENSG00000147874 chr9:19087096-19087096;T/C missense_variant False HAUS6@p.L787V 1 0.244897959 ENSG00000147874 chr9:19058408-19058408;G/C missense_variant False HASPIN@p.E258Q 1 0.164705882 ENSG00000177602 chr17:3724707-3724707;G/C missense_variant False HAS3@p.D217H 1 0.322916667 ENSG00000103044 chr16:69113453-69113453;G/C missense_variant False HAO1@p.W224L 1 0.138686131 ENSG00000101323 chr20:7906204-7906204;C/A missense_variant False HAP1@p.M400Cfs*48 1 0.157894737 ENSG00000173805 chr17:41728204-41728204;C/- frameshift_variant False HAPLN4@p.R183S 1 0.432432432 ENSG00000187664 chr19:19258793-19258793;G/T missense_variant False HAPLN2@p.G76A 1 0.696969697 ENSG00000132702 chr1:156623948-156623948;G/C missense_variant False HAPLN2@p.E171K 1 0.25 ENSG00000132702 chr1:156624422-156624422;G/A missense_variant False HAPLN1@p.L264V 1 0.095238095 ENSG00000145681 chr5:83641771-83641771;G/C missense_variant False HAPLN1@p.F257C 1 0.293103448 ENSG00000145681 chr5:83644368-83644368;A/C missense_variant False HAP1@p.S336C 1 0.234234234 ENSG00000173805 chr17:41731555-41731555;G/C missense_variant False HAO2@p.V238I 1 0.097826087 ENSG00000116882 chr1:119386772-119386772;G/A missense_variant False HAS3@p.C339Y 1 0.183673469 ENSG00000103044 chr16:69114620-69114620;G/A missense_variant False HAO2@p.R216Q 1 0.384615385 ENSG00000116882 chr1:119386707-119386707;G/A missense_variant False HAO2@p.P218L 1 0.25974026 ENSG00000116882 chr1:119386713-119386713;C/T missense_variant False HAO2@p.E263Q 1 0.5 ENSG00000116882 chr1:119392125-119392125;G/C missense_variant False HAO2@p.E253K 1 0.081632653 ENSG00000116882 chr1:119386817-119386817;G/A missense_variant False HAO2@p.D285Y 1 0.302325581 ENSG00000116882 chr1:119392191-119392191;G/T missense_variant False HAO2@p.C5S 1 0.186956522 ENSG00000116882 chr1:119381099-119381099;G/C missense_variant False HARBI1@p.G83C 1 0.5 ENSG00000180423 chr11:46615991-46615991;C/A missense_variant False HARBI1@p.M100I 1 0.433962264 ENSG00000180423 chr11:46615938-46615938;C/T missense_variant False HARS1@p.D265Y 1 0.309090909 ENSG00000170445 chr5:140677357-140677357;C/A missense_variant False HARS1@p.E190Q 1 0.225806452 ENSG00000170445 chr5:140677970-140677970;C/G missense_variant False HARS1@p.G300A 1 0.378640777 ENSG00000170445 chr5:140677041-140677041;C/G missense_variant False HARS1@p.S319A 1 0.076271186 ENSG00000170445 chr5:140676893-140676893;A/C missense_variant False HARS2@p.F55C 1 0.445783133 ENSG00000112855 chr5:140693646-140693646;T/G missense_variant False HAS1@p.C295Y 1 0.242152466 ENSG00000105509 chr19:51717012-51717012;C/T missense_variant False HAS1@p.R259Q 1 0.191358025 ENSG00000105509 chr19:51717120-51717120;C/T missense_variant False HAS2@p.D218H 1 0.140625 ENSG00000170961 chr8:121617182-121617182;C/G missense_variant False HAS2@p.D551E 1 0.28358209 ENSG00000170961 chr8:121614115-121614115;A/T missense_variant False HAS2@p.E267K 1 0.168831169 ENSG00000170961 chr8:121614969-121614969;C/T missense_variant False HAS2@p.Q93E 1 0.212885154 ENSG00000170961 chr8:121629064-121629064;G/C missense_variant False HAS2@p.S253L 1 0.297297297 ENSG00000170961 chr8:121615010-121615010;G/A missense_variant False HAS3@p.A427T 1 0.25 ENSG00000103044 chr16:69114883-69114883;G/A missense_variant False HAS3@p.A93S 1 0.192307692 ENSG00000103044 chr16:69109672-69109672;G/T missense_variant False HAS3@p.A93V 1 0.192307692 ENSG00000103044 chr16:69109673-69109673;C/T missense_variant False H4C3@p.G14R 1 0.076923077 ENSG00000197061 chr6:26103987-26103987;G/C missense_variant False H4C1@p.Y73_T74del 1 0.202247191 ENSG00000278705 chr6:26021892-26021897;ACCTAT/- inframe_deletion False H4C1@p.Y73H 1 0.360465116 ENSG00000278705 chr6:26021895-26021895;T/C missense_variant False H2AZ2@p.L62F 1 0.677852349 ENSG00000105968 chr7:44840910-44840910;G/A missense_variant False H2BC11@p.K13N 1 0.373493976 ENSG00000124635 chr6:27132712-27132712;C/G missense_variant False H2BC11@p.E36K 1 0.075581395 ENSG00000124635 chr6:27132645-27132645;C/T missense_variant False H2BC11@p.A18T 1 0.148351648 ENSG00000124635 chr6:27132699-27132699;C/T missense_variant False H2BC10@p.S65C 1 0.704545455 ENSG00000278588 chr6:26273169-26273169;C/G missense_variant False H2BC10@p.K25Q 1 0.097297297 ENSG00000278588 chr6:26273048-26273048;A/C missense_variant False H2BC10@p.K12N 1 0.130653266 ENSG00000278588 chr6:26273011-26273011;G/C missense_variant False H2AZ2@p.G45E 1 0.2 ENSG00000105968 chr7:44840960-44840960;C/T missense_variant False H2AC4@p.R78S 1 0.271186441 ENSG00000278463 chr6:26033337-26033337;G/T missense_variant False H2AZ1@p.S117F 1 0.459459459 ENSG00000164032 chr4:99948499-99948499;G/A missense_variant False H2AW@p.S2C 1 0.361111111 None chr1:228457813-228457813;G/C missense_variant False H2AW@p.G45Ifs*9 1 0.52173913 None chr1:228457667-228457685;AGACCGGGGCGCCGGCGCC/- frameshift_variant False H2AW@p.A71T 1 0.061068702 None chr1:228457607-228457607;C/T missense_variant False H2AC8@p.S19F 1 0.372881356 ENSG00000277075 chr6:26217030-26217030;C/T missense_variant False H2AC8@p.E92K 1 0.240384615 ENSG00000277075 chr6:26217248-26217248;G/A missense_variant False H2BC12@p.F71L 1 0.169642857 ENSG00000197903 chr6:27146586-27146586;G/C missense_variant False H2BC12@p.I74M 1 0.261235955 ENSG00000197903 chr6:27146577-27146577;G/C missense_variant False H2BC12@p.K13R 1 0.095238095 ENSG00000197903 chr6:27146761-27146761;T/C missense_variant False H2BC12@p.S15W 1 0.111111111 ENSG00000197903 chr6:27146755-27146755;G/C missense_variant False H2BC14@p.E94D 1 0.435897436 ENSG00000273703 chr6:27815325-27815325;G/T missense_variant False H2BC14@p.P9S 1 0.506666667 ENSG00000273703 chr6:27815068-27815068;C/T missense_variant False H2BC15@p.K28N 1 0.126811594 ENSG00000233822 chr6:27838745-27838745;G/T missense_variant False H2BC17@p.G76Afs*? 1 0.343137255 ENSG00000274641 chr6:27893689-27893699;GCGAGGCTTCC/- frameshift_variant False H2BC17@p.S88L 1 0.386554622 ENSG00000274641 chr6:27893725-27893725;C/T missense_variant False H2BC1@p.K32E 1 0.461538462 ENSG00000146047 chr6:25727002-25727002;A/G missense_variant False H2BC1@p.S40C 1 0.655737705 ENSG00000146047 chr6:25727027-25727027;C/G missense_variant False H2BC21@p.E114K 1 0.267605634 ENSG00000184678 chr1:149886301-149886301;C/T missense_variant False H2BC21@p.S57F 1 0.300675676 ENSG00000184678 chr1:149886471-149886471;G/A missense_variant False H2BC3@p.A108Lfs*? 1 0.390909091 ENSG00000276410 chr6:26043336-26043336;C/- frameshift_variant False H2BC3@p.E114K 1 0.146341463 ENSG00000276410 chr6:26043318-26043318;C/T missense_variant False H2BC3@p.S5T 1 0.163265306 ENSG00000276410 chr6:26043645-26043645;A/T missense_variant False H2BC4@p.I55V 1 0.198795181 ENSG00000278588 chr6:26123742-26123742;T/C missense_variant False H2AC8@p.E122D 1 0.2375 ENSG00000277075 chr6:26217340-26217340;G/C missense_variant False H2AC21@p.S17W 1 0.169117647 ENSG00000184270 chr1:149887867-149887867;G/C missense_variant False H2BC5@p.E3K 1 0.228571429 ENSG00000158373 chr6:26158176-26158176;G/A missense_variant False H2AC11@p.V31G 1 0.215189873 ENSG00000278677 chr6:27133163-27133163;T/G missense_variant False H2AC13@p.R12C 1 0.114832536 ENSG00000196747 chr6:27808243-27808243;C/T missense_variant False H2AC13@p.G47E 1 0.142857143 ENSG00000196747 chr6:27808349-27808349;G/A missense_variant False H2AC12@p.R30Q 1 0.065789474 ENSG00000274997 chr6:27147217-27147217;G/A missense_variant False H2AC12@p.L24Rfs*35 1 0.366197183 ENSG00000274997 chr6:27147199-27147202;TTCA/- frameshift_variant False H2AC12@p.G99C 1 0.085714286 ENSG00000274997 chr6:27147423-27147423;G/T missense_variant False H2AC11@p.V50L 1 0.194029851 ENSG00000278677 chr6:27133219-27133219;G/T missense_variant False H2AC11@p.S19F 1 0.411764706 ENSG00000278677 chr6:27133127-27133127;C/T missense_variant False H2AC21@p.R36G 1 0.163934426 ENSG00000184270 chr1:149887811-149887811;G/C missense_variant False H2AC11@p.K75N 1 0.151260504 ENSG00000278677 chr6:27133296-27133296;G/C missense_variant False H2AC11@p.G5V 1 0.176470588 ENSG00000278677 chr6:27133085-27133085;G/T missense_variant False H2AC11@p.G5C 1 0.188405797 ENSG00000278677 chr6:27133084-27133084;G/T missense_variant False H2AC11@p.G29R 1 0.234567901 ENSG00000278677 chr6:27133156-27133156;G/C missense_variant False H2AC11@p.A22V 1 0.428571429 ENSG00000278677 chr6:27133136-27133136;C/T missense_variant False H1-8@p.V282L 1 0.202702703 ENSG00000178804 chr3:129551143-129551143;G/C missense_variant False H2AC14@p.I80Sfs*? 1 0.188888889 ENSG00000276368 chr6:27814487-27814502;TGGAGGTGACGCGGGA/- frameshift_variant False H2AC14@p.R21W 1 0.197183099 ENSG00000276368 chr6:27814680-27814680;G/A missense_variant False H2AC14@p.R30L 1 0.452830189 ENSG00000276368 chr6:27814652-27814652;C/A missense_variant False H2AC15@p.E42K 1 0.254545455 ENSG00000275221 chr6:27838216-27838216;C/T missense_variant False H2AC15@p.K76E 1 0.251655629 ENSG00000275221 chr6:27838114-27838114;T/C missense_variant False H2AC15@p.Q105P 1 0.189189189 ENSG00000275221 chr6:27838026-27838026;T/G missense_variant False H2AC15@p.R30Q 1 0.169491525 ENSG00000275221 chr6:27838251-27838251;C/T missense_variant False H2AC16@p.A61V 1 0.1 ENSG00000276903 chr6:27865536-27865536;C/T missense_variant False H2AC16@p.E42K 1 0.219298246 ENSG00000276903 chr6:27865478-27865478;G/A missense_variant False H2AC16@p.R21Pfs*18 1 0.145833333 ENSG00000276903 chr6:27865412-27865422;TCTCGTGCCGG/- frameshift_variant False H2AC16@p.R36S 1 0.168224299 ENSG00000276903 chr6:27865460-27865460;C/A missense_variant False H2AC20@p.E62D 1 0.109589041 ENSG00000184260 chr1:149887160-149887160;G/T missense_variant False H2AC20@p.G8R 1 0.045685279 ENSG00000184260 chr1:149886996-149886996;G/A missense_variant False H2AC20@p.R12L 1 0.395121951 ENSG00000184260 chr1:149887009-149887009;G/T missense_variant False H2AC20@p.R30Q 1 0.178217822 ENSG00000184260 chr1:149887063-149887063;G/A missense_variant False H2AC20@p.R4C 1 0.338078292 ENSG00000184260 chr1:149886984-149886984;C/T missense_variant False H2AC21@p.Q113Sfs*21 1 0.373737374 ENSG00000184270 chr1:149887581-149887582;-/AA frameshift_variant False H2BC5@p.A108T 1 0.072033898 ENSG00000158373 chr6:26158491-26158491;G/A missense_variant False H2BC5@p.E77K 1 0.319277108 ENSG00000158373 chr6:26158398-26158398;G/A missense_variant False H4C13@p.S48L 1 0.685714286 ENSG00000275126 chr6:27873368-27873368;G/A missense_variant False H3C2@p.L83I 1 0.325842697 ENSG00000286522 chr6:26031814-26031814;G/T missense_variant True H3C3@p.P17A 1 0.471428571 ENSG00000287080 chr6:26045459-26045459;C/G missense_variant False H3C3@p.H40D 1 0.285714286 ENSG00000287080 chr6:26045528-26045528;C/G missense_variant False H3C3@p.E98K 1 0.319148936 ENSG00000287080 chr6:26045702-26045702;G/A missense_variant False H3C3@p.E74Q 1 0.588235294 ENSG00000287080 chr6:26045630-26045630;G/C missense_variant False H3C3@p.C97Vfs*6 1 0.121621622 ENSG00000287080 chr6:26045697-26045737;CTTGTGAGGCCTACCTGGTGGGACTCTTCGAAGACACCAAT/- frameshift_variant False H3C2@p.R132C 1 0.450980392 ENSG00000286522 chr6:26031667-26031667;G/A missense_variant True H3C2@p.H40N 1 0.067307692 ENSG00000286522 chr6:26031943-26031943;G/T missense_variant True H3C13@p.C111Y 1 0.142857143 ENSG00000183598 chr1:149813350-149813350;C/T missense_variant False H3C2@p.E98K 1 0.220930233 ENSG00000286522 chr6:26031769-26031769;C/T missense_variant True H3C2@p.E74K 1 0.252873563 ENSG00000286522 chr6:26031841-26031841;C/T missense_variant True H3C2@p.E60K 1 0.383116883 ENSG00000286522 chr6:26031883-26031883;C/T missense_variant True H3C2@p.E51Q 1 0.371428571 ENSG00000286522 chr6:26031910-26031910;C/G missense_variant True H3C2@p.E134Q 1 0.220338983 ENSG00000286522 chr6:26031661-26031661;C/G missense_variant True H3C1@p.F79C 1 0.382978723 ENSG00000287080 chr6:26020725-26020725;T/G missense_variant False H3C3@p.R41S 1 0.144444444 ENSG00000287080 chr6:26045531-26045531;C/A missense_variant False H3C4@p.E106K 1 0.469387755 ENSG00000197409 chr6:26196935-26196935;C/T missense_variant False H3C4@p.E98K 1 0.095238095 ENSG00000197409 chr6:26196959-26196959;C/T missense_variant False H3C6@p.E106K 1 0.213333333 ENSG00000274750 chr6:26225470-26225470;G/A missense_variant False H3C7@p.G13S 1 0.090909091 ENSG00000277775 chr6:26250569-26250569;C/T missense_variant False H3C7@p.S58W 1 0.316129032 ENSG00000277775 chr6:26250433-26250433;G/C missense_variant False H3C7@p.T4R 1 0.12345679 ENSG00000277775 chr6:26250595-26250595;G/C missense_variant False H3C8@p.R132C 1 0.224719101 ENSG00000273983 chr6:26270991-26270991;G/A missense_variant False H4-16@p.R4Q 1 0.098591549 None chr12:14771074-14771074;C/T missense_variant False H4C11@p.E64K 1 0.181818182 ENSG00000197238 chr6:27824314-27824314;G/A missense_variant False H4C11@p.R68Hfs*45 1 0.150684932 ENSG00000197238 chr6:27824322-27824323;-/ATCC frameshift_variant False H4C12@p.D25N 1 0.082352941 ENSG00000273542 chr6:27831455-27831455;C/T missense_variant False H4C12@p.D69N 1 0.271428571 ENSG00000273542 chr6:27831323-27831323;C/T missense_variant False H4C12@p.E53K 1 0.571428571 ENSG00000273542 chr6:27831371-27831371;C/T missense_variant False H4C12@p.E53Q 1 0.220338983 ENSG00000273542 chr6:27831371-27831371;C/G missense_variant False H4C13@p.E64D 1 0.193548387 ENSG00000275126 chr6:27873319-27873319;C/G missense_variant False H4C13@p.L59del 1 0.212765957 ENSG00000275126 chr6:27873334-27873336;AAG/- inframe_deletion False H3C13@p.S11L 1 0.315789474 ENSG00000183598 chr1:149813650-149813650;G/A missense_variant False H3C11@p.R130C 1 0.118881119 ENSG00000275379 chr6:27871928-27871928;G/A missense_variant False H2BC5@p.S56C 1 0.147540984 ENSG00000158373 chr6:26158336-26158336;C/G missense_variant False H2BC8@p.E114Q 1 0.389830508 ENSG00000273802 chr6:26216304-26216304;C/G missense_variant False H2BC9@p.K47R 1 0.351648352 ENSG00000275713 chr6:26251790-26251790;A/G missense_variant False H2BC9@p.E77K 1 0.181818182 ENSG00000275713 chr6:26251879-26251879;G/A missense_variant False H2BC9@p.D69N 1 0.102702703 ENSG00000275713 chr6:26251855-26251855;G/A missense_variant False H2BC8@p.R100H 1 0.153846154 ENSG00000273802 chr6:26216345-26216345;C/T missense_variant False H2BC8@p.P11A 1 0.401574803 ENSG00000273802 chr6:26216613-26216613;G/C missense_variant False H2BC8@p.E77K 1 0.231481481 ENSG00000273802 chr6:26216415-26216415;C/T missense_variant False H2BC7@p.Y43C 1 0.445833333 ENSG00000277224 chr6:26199686-26199686;A/G missense_variant False H3C11@p.K37N 1 0.112244898 ENSG00000275379 chr6:27872205-27872205;C/G missense_variant False H2BC7@p.E77K 1 0.275862069 ENSG00000277224 chr6:26199787-26199787;G/A missense_variant False H2BC7@p.E3K 1 0.333333333 ENSG00000277224 chr6:26199565-26199565;G/A missense_variant False H2BC7@p.A98T 1 0.182926829 ENSG00000277224 chr6:26199850-26199850;G/A missense_variant False H2BC7@p.A78G 1 0.109195402 ENSG00000277224 chr6:26199791-26199791;C/G missense_variant False H2BC6@p.G105R 1 0.243589744 ENSG00000274290 chr6:26184108-26184108;G/C missense_variant False H2BC5@p.T116S 1 0.109589041 ENSG00000158373 chr6:26158515-26158515;A/T missense_variant False H2BU1@p.S125C 1 0.180555556 None chr1:228458503-228458503;C/G missense_variant False H2BU1@p.S76G 1 0.129770992 None chr1:228458355-228458355;A/G missense_variant False H3-3A@p.A16S 1 0.473684211 ENSG00000163041 chr1:226064397-226064397;G/T missense_variant True H3-3A@p.A48V 1 0.123076923 ENSG00000163041 chr1:226065670-226065670;C/T missense_variant True H3-3A@p.K37R 1 0.219512195 ENSG00000163041 chr1:226064461-226064461;A/G missense_variant True H3-3A@p.K65T 1 0.166666667 ENSG00000163041 chr1:226065721-226065721;A/C missense_variant True H3-3A@p.R50H 1 0.108108108 ENSG00000163041 chr1:226065676-226065676;G/A missense_variant True H3-3B@p.E106Kfs*33 1 0.396551724 ENSG00000132475 chr17:75778690-75778690;C/- frameshift_variant False H3-3B@p.E134Q 1 0.190751445 ENSG00000132475 chr17:75778606-75778606;C/G missense_variant False H3-3B@p.R50L 1 0.136363636 ENSG00000132475 chr17:75778943-75778943;C/A missense_variant False H3-3B@p.R50P 1 0.236363636 ENSG00000132475 chr17:75778943-75778943;C/G missense_variant False H3-3B@p.Y42C 1 0.470588235 ENSG00000132475 chr17:75779050-75779050;T/C missense_variant False H3-5@p.E133K 1 0.28021978 ENSG00000188375 chr12:31791770-31791770;C/T missense_variant False H3C10@p.E98K 1 0.358974359 ENSG00000278828 chr6:27810365-27810365;G/A missense_variant False H3C10@p.I63V 1 0.12195122 ENSG00000278828 chr6:27810260-27810260;A/G missense_variant False H3C10@p.P122H 1 0.114754098 ENSG00000278828 chr6:27810438-27810438;C/A missense_variant False H3C11@p.E106Q 1 0.430463576 ENSG00000275379 chr6:27872000-27872000;C/G missense_variant False GSS@p.E345K 1 0.458333333 ENSG00000100983 chr20:34931414-34931414;C/T missense_variant False GSR@p.G315D 1 0.5 ENSG00000104687 chr8:30689258-30689258;C/T missense_variant False HAUS6@p.P412A 1 0.55 ENSG00000147874 chr9:19076662-19076662;G/C missense_variant False GRB14@p.E115K 1 0.257142857 ENSG00000115290 chr2:164547798-164547798;C/T missense_variant False GREB1@p.A426T 1 0.342995169 ENSG00000196208 chr2:11588862-11588862;G/A missense_variant False GRB7@p.S357C 1 0.285714286 ENSG00000141738 chr17:39745301-39745301;C/G missense_variant False GRB7@p.E231D 1 0.091703057 ENSG00000141738 chr17:39744099-39744099;G/C missense_variant False GRB2@p.F95L 1 0.119047619 ENSG00000177885 chr17:75325912-75325912;G/C missense_variant False GRB14@p.R131G 1 0.117647059 ENSG00000115290 chr2:164547750-164547750;G/C missense_variant False GRB14@p.H441Y 1 0.309090909 ENSG00000115290 chr2:164497069-164497069;G/A missense_variant False GRB10@p.R520L 1 0.477966102 ENSG00000106070 chr7:50595516-50595516;C/A missense_variant False GREB1@p.A896V 1 0.197674419 ENSG00000196208 chr2:11610708-11610708;C/T missense_variant False GRB10@p.R465Q 1 0.315789474 ENSG00000106070 chr7:50604373-50604373;C/T missense_variant False GRB10@p.P161A 1 0.525641026 ENSG00000106070 chr7:50669745-50669745;G/C missense_variant False GRB10@p.D29Y 1 0.182389937 ENSG00000106070 chr7:50703875-50703875;C/A missense_variant False GRAP@p.D133N 1 0.625 ENSG00000154016 chr17:19024286-19024286;C/T missense_variant False GRAP2@p.L25F 1 0.462686567 ENSG00000100351 chr22:39947181-39947181;G/C missense_variant False GRAP2@p.E16K 1 0.305555556 ENSG00000100351 chr22:39947152-39947152;G/A missense_variant False GREB1@p.A746T 1 0.318965517 ENSG00000196208 chr2:11598763-11598763;G/A missense_variant False GREB1@p.D400Y 1 0.96875 ENSG00000196208 chr2:11588784-11588784;G/T missense_variant False GRID2@p.P312A 1 0.146788991 ENSG00000152208 chr4:93216882-93216882;C/G missense_variant False GREM2@p.P107L 1 0.118811881 ENSG00000180875 chr1:240493156-240493156;G/A missense_variant False GRHL1@p.S561L 1 0.105263158 ENSG00000134317 chr2:9998969-9998969;C/T missense_variant False GRHL1@p.S383F 1 0.124590164 ENSG00000134317 chr2:9986161-9986161;C/T missense_variant False GRHL1@p.L190V 1 0.186206897 ENSG00000134317 chr2:9961335-9961335;C/G missense_variant False GRHL1@p.D513N 1 0.127272727 ENSG00000134317 chr2:9995916-9995916;G/A missense_variant False GREM2@p.V160M 1 0.206896552 ENSG00000180875 chr1:240492998-240492998;C/T missense_variant False GREM2@p.S56N 1 0.31372549 ENSG00000180875 chr1:240493309-240493309;C/T missense_variant False GREM1@p.G63W 1 0.191176471 ENSG00000166923 chr15:32730877-32730877;G/T missense_variant False GREB1@p.D695N 1 0.116766467 ENSG00000196208 chr2:11597909-11597909;G/A missense_variant False GREB1@p.S1111W 1 0.128888889 ENSG00000196208 chr2:11616640-11616640;C/G missense_variant False GREB1@p.Q823H 1 0.183333333 ENSG00000196208 chr2:11600935-11600935;G/C missense_variant False GREB1@p.P1179L 1 0.444444444 ENSG00000196208 chr2:11618411-11618411;C/T missense_variant False GREB1@p.L1204F 1 0.488888889 ENSG00000196208 chr2:11618485-11618485;C/T missense_variant False GREB1@p.H1681Y 1 0.128571429 ENSG00000196208 chr2:11634180-11634180;C/T missense_variant False GREB1@p.F1410Ifs*2 1 0.284457478 ENSG00000196208 chr2:11625233-11625234;-/A frameshift_variant False GRAP2@p.A208V 1 0.333333333 ENSG00000100351 chr22:39968205-39968205;C/T missense_variant False GRAMD4@p.T454I 1 0.245283019 ENSG00000075240 chr22:46673791-46673791;C/T missense_variant False GRAMD2B@p.N430S 1 0.342857143 ENSG00000155324 chr5:126492946-126492946;A/G missense_variant False GPX3@p.G93S 1 0.248 ENSG00000211445 chr5:151026935-151026935;G/A missense_variant False GPX7@p.P151S 1 0.338028169 ENSG00000116157 chr1:52608312-52608312;C/T missense_variant False GPX7@p.D95H 1 0.163043478 ENSG00000116157 chr1:52606828-52606828;G/C missense_variant False GPX6@p.N83K 1 0.144736842 ENSG00000198704 chr6:28506422-28506422;A/C missense_variant False GPX6@p.G35A 1 0.535714286 ENSG00000198704 chr6:28510888-28510888;C/G missense_variant False GPX5@p.V8I 1 0.234615385 ENSG00000224586 chr6:28526035-28526035;G/A missense_variant False GPX3@p.L162F 1 0.523809524 ENSG00000211445 chr5:151027933-151027933;C/T missense_variant False GPX3@p.E136Q 1 0.166666667 ENSG00000211445 chr5:151027478-151027478;G/C missense_variant False GRAMD2B@p.L181I 1 0.25 ENSG00000155324 chr5:126477746-126477746;C/A missense_variant False GPX2@p.V21I 1 0.1875 ENSG00000176153 chr14:64942666-64942666;C/T missense_variant False GPX1@p.N79S 1 0.375 ENSG00000233276 chr3:49358043-49358043;T/C missense_variant False GPX1@p.F167S 1 0.090909091 ENSG00000233276 chr3:49357500-49357500;A/G missense_variant False GPX1@p.D159N 1 0.25 ENSG00000233276 chr3:49357525-49357525;C/T missense_variant False GPT@p.S97N 1 0.233438486 ENSG00000167701 chr8:144504808-144504808;G/A missense_variant False GPT@p.D103N 1 0.279527559 ENSG00000167701 chr8:144504825-144504825;G/A missense_variant False GPX8@p.S61Y 1 0.459459459 ENSG00000164294 chr5:55160374-55160374;C/A missense_variant False GRAMD1A@p.E201Q 1 0.274193548 ENSG00000089351 chr19:35011549-35011549;G/C missense_variant False GRAMD1A@p.E496K 1 0.178571429 ENSG00000089351 chr19:35021512-35021512;G/A missense_variant False GRAMD1A@p.R449H 1 0.424778761 ENSG00000089351 chr19:35019404-35019404;G/A missense_variant False GRAMD1B@p.E318Q 1 0.565217391 ENSG00000023171 chr11:123606666-123606666;G/C missense_variant False GRAMD1B@p.E43Q 1 0.357142857 ENSG00000023171 chr11:123577470-123577470;G/C missense_variant False GRAMD1B@p.G422R 1 0.444444444 ENSG00000023171 chr11:123609830-123609830;G/A missense_variant False GRAMD1B@p.S353N 1 0.76 ENSG00000023171 chr11:123606772-123606772;G/A missense_variant False GRAMD1C@p.D324H 1 0.121212121 ENSG00000178075 chr3:113915718-113915718;G/C missense_variant False GRAMD1C@p.E273K 1 0.255813953 ENSG00000178075 chr3:113908985-113908985;G/A missense_variant False GRAMD1C@p.F187L 1 0.292682927 ENSG00000178075 chr3:113901051-113901051;C/G missense_variant False GRAMD1C@p.I169M 1 0.25 ENSG00000178075 chr3:113882799-113882799;C/G missense_variant False GRAMD1C@p.K277T 1 0.79245283 ENSG00000178075 chr3:113908998-113908998;A/C missense_variant False GRAMD1C@p.K598T 1 0.070866142 ENSG00000178075 chr3:113939987-113939987;A/C missense_variant False GRAMD1C@p.S409I 1 0.168 ENSG00000178075 chr3:113933527-113933527;G/T missense_variant False GRAMD1C@p.S580P 1 0.512195122 ENSG00000178075 chr3:113939932-113939932;T/C missense_variant False GRAMD2A@p.S131F 1 0.137931034 ENSG00000175318 chr15:72167073-72167073;G/A missense_variant False GRHL2@p.I293M 1 0.279069767 ENSG00000083307 chr8:101573812-101573812;C/G missense_variant False GRHL2@p.P151L 1 0.305263158 ENSG00000083307 chr8:101558586-101558586;C/T missense_variant False GRHL2@p.Q104R 1 0.455882353 ENSG00000083307 chr8:101558445-101558445;A/G missense_variant False GRIA4@p.L64M 1 0.432432432 ENSG00000152578 chr11:105612377-105612377;T/A missense_variant False GRIA4@p.V745L 1 0.169811321 ENSG00000152578 chr11:105933908-105933908;G/C missense_variant False GRIA4@p.V181I 1 0.417910448 ENSG00000152578 chr11:105862077-105862077;G/A missense_variant False GRIA4@p.S636L 1 0.333333333 ENSG00000152578 chr11:105926800-105926800;C/T missense_variant False GRIA4@p.S58L 1 0.405797101 ENSG00000152578 chr11:105612360-105612360;C/T missense_variant False GRIA4@p.P654L 1 0.382978723 ENSG00000152578 chr11:105926854-105926854;C/T missense_variant False GRIA4@p.M276I 1 0.551724138 ENSG00000152578 chr11:105898370-105898370;G/A missense_variant False GRIA4@p.L618P 1 0.227272727 ENSG00000152578 chr11:105926746-105926746;T/C missense_variant False GRIA4@p.D364H 1 0.184 ENSG00000152578 chr11:105905233-105905233;G/C missense_variant False GRIA4@p.I460M 1 0.266666667 ENSG00000152578 chr11:105918822-105918822;C/G missense_variant False GRIA4@p.G816S 1 0.106382979 ENSG00000152578 chr11:105974346-105974346;G/A missense_variant False GRIA4@p.G21R 1 0.121212121 ENSG00000152578 chr11:105611058-105611058;G/A missense_variant False GRIA4@p.E72Q 1 0.103092784 ENSG00000152578 chr11:105612401-105612401;G/C missense_variant False GRIA4@p.E583V 1 0.24 ENSG00000152578 chr11:105924670-105924670;A/T missense_variant False GRIA4@p.D877Y 1 0.3 ENSG00000152578 chr11:105979659-105979659;G/T missense_variant False GRIA4@p.V780I 1 0.375 ENSG00000152578 chr11:105971957-105971957;G/A missense_variant False GRID1@p.A347V 1 0.201923077 ENSG00000182771 chr10:85856102-85856102;G/A missense_variant False GRID1@p.D719H 1 0.301754386 ENSG00000182771 chr10:85647240-85647240;C/G missense_variant False GRID1@p.G506E 1 0.522522523 ENSG00000182771 chr10:85727871-85727871;C/T missense_variant False GRID1@p.P954R 1 0.15625 ENSG00000182771 chr10:85602442-85602442;G/C missense_variant False GRID1@p.Q669K 1 0.093023256 ENSG00000182771 chr10:85647390-85647390;G/T missense_variant False GRID1@p.R433C 1 0.333333333 ENSG00000182771 chr10:85729551-85729551;G/A missense_variant False GRID1@p.R977W 1 0.178571429 ENSG00000182771 chr10:85602374-85602374;G/A missense_variant False GRID1@p.S500F 1 0.395833333 ENSG00000182771 chr10:85727889-85727889;G/A missense_variant False GRID1@p.S940R 1 0.583333333 ENSG00000182771 chr10:85602483-85602483;G/T missense_variant False GRID1@p.T206I 1 0.204819277 ENSG00000182771 chr10:86138928-86138928;G/A missense_variant False GRID1@p.T61A 1 0.159090909 ENSG00000182771 chr10:86363995-86363995;T/C missense_variant False GRID2@p.D869G 1 0.217391304 ENSG00000152208 chr4:93772080-93772080;A/G missense_variant False GRID2@p.E531K 1 0.141025641 ENSG00000152208 chr4:93455707-93455707;G/A missense_variant False GRID2@p.E700Q 1 0.384615385 ENSG00000152208 chr4:93515316-93515316;G/C missense_variant False GRID2@p.K807N 1 0.163265306 ENSG00000152208 chr4:93769270-93769270;G/C missense_variant False GRID2@p.K947E 1 0.225806452 ENSG00000152208 chr4:93772313-93772313;A/G missense_variant False GRIA4@p.D401N 1 0.384615385 ENSG00000152578 chr11:105910477-105910477;G/A missense_variant False GRIA3@p.V199A 1 0.162162162 ENSG00000125675 chrX:123326113-123326113;T/C missense_variant False GRHL2@p.S134F 1 0.340909091 ENSG00000083307 chr8:101558535-101558535;C/T missense_variant False GRIA1@p.D783N 1 0.46875 ENSG00000155511 chr5:153794697-153794697;G/A missense_variant False GRIA1@p.L825S 1 0.047619048 ENSG00000155511 chr5:153802444-153802444;T/C missense_variant False GRIA1@p.L664Q 1 0.291666667 ENSG00000155511 chr5:153764601-153764601;T/A missense_variant False GRIA1@p.L591F 1 0.068493151 ENSG00000155511 chr5:153706017-153706017;G/T missense_variant False GRIA1@p.K284N 1 0.285714286 ENSG00000155511 chr5:153674652-153674652;G/C missense_variant False GRIA1@p.E682Q 1 0.236842105 ENSG00000155511 chr5:153770189-153770189;G/C missense_variant False GRIA1@p.E658Q 1 0.153846154 ENSG00000155511 chr5:153764582-153764582;G/C missense_variant False GRIA1@p.D487N 1 0.28 ENSG00000155511 chr5:153705703-153705703;G/A missense_variant False GRIA3@p.R726Q 1 0.675 ENSG00000125675 chrX:123464965-123464965;G/A missense_variant False GRIA1@p.D138N 1 0.333333333 ENSG00000155511 chr5:153647119-153647119;G/A missense_variant False GRIA1@p.C101F 1 0.349593496 ENSG00000155511 chr5:153647009-153647009;G/T missense_variant False GRHL3@p.E500Q 1 0.232142857 ENSG00000158055 chr1:24346596-24346596;G/C missense_variant False GRHL3@p.D401Y 1 0.571428571 ENSG00000158055 chr1:24342268-24342268;G/T missense_variant False GRHL3@p.D288N 1 0.3359375 ENSG00000158055 chr1:24338013-24338013;G/A missense_variant False GRHL3@p.A138Gfs*32 1 0.214953271 ENSG00000158055 chr1:24336621-24336622;-/A frameshift_variant False GRIA1@p.M839I 1 0.376744186 ENSG00000155511 chr5:153802487-153802487;G/A missense_variant False GRIA1@p.Q310H 1 0.137931034 ENSG00000155511 chr5:153677062-153677062;G/C missense_variant False GRIA1@p.R311K 1 0.620689655 ENSG00000155511 chr5:153677064-153677064;G/A missense_variant False GRIA1@p.R455H 1 0.291666667 ENSG00000155511 chr5:153698985-153698985;G/A missense_variant False GRIA1@p.T93P 1 0.47826087 ENSG00000155511 chr5:153646984-153646984;A/C missense_variant False GRIA1@p.V809M 1 0.291891892 ENSG00000155511 chr5:153802395-153802395;G/A missense_variant False GRIA2@p.E190K 1 0.369863014 ENSG00000120251 chr4:157312777-157312777;G/A missense_variant False GRIA2@p.E412Q 1 0.115789474 ENSG00000120251 chr4:157334088-157334088;G/C missense_variant False GRIA2@p.I819V 1 0.103448276 ENSG00000120251 chr4:157362847-157362847;A/G missense_variant False GRIA2@p.K850N 1 0.192771084 ENSG00000120251 chr4:157362942-157362942;G/C missense_variant False GRIA2@p.L139F 1 0.313253012 ENSG00000120251 chr4:157303739-157303739;G/C missense_variant False GRIA2@p.N482D 1 0.451612903 ENSG00000120251 chr4:157335848-157335848;A/G missense_variant False GRIA2@p.R45Q 1 0.216666667 ENSG00000120251 chr4:157221712-157221712;G/A missense_variant False GRIA2@p.S585T 1 0.06557377 ENSG00000120251 chr4:157336657-157336657;G/C missense_variant False GRIA3@p.E659Q 1 0.692307692 ENSG00000125675 chrX:123428038-123428038;G/C missense_variant False GRIA3@p.F17S 1 0.310679612 ENSG00000125675 chrX:123184585-123184585;T/C missense_variant False GRIA3@p.L652V 1 0.495652174 ENSG00000125675 chrX:123428017-123428017;C/G missense_variant False GPT2@p.D299H 1 0.282485876 ENSG00000166123 chr16:46916702-46916702;G/C missense_variant False GPSM3@p.E137G 1 0.382022472 ENSG00000213654 chr6:32191439-32191439;T/C missense_variant False GPSM2@p.R652K 1 0.27027027 ENSG00000121957 chr1:108929840-108929840;G/A missense_variant False GPR63@p.G150R 1 0.2875 ENSG00000112218 chr6:96799284-96799284;C/T missense_variant False GPR68@p.Q49H 1 0.338983051 ENSG00000119714 chr14:91234904-91234904;C/G missense_variant False GPR68@p.L150M 1 0.40625 ENSG00000119714 chr14:91234603-91234603;G/T missense_variant False GPR65@p.R267Q 1 0.46875 ENSG00000140030 chr14:88011647-88011647;G/A missense_variant False GPR65@p.K219N 1 0.128571429 ENSG00000140030 chr14:88011504-88011504;G/T missense_variant False GPR63@p.S157C 1 0.212121212 ENSG00000112218 chr6:96799262-96799262;G/C missense_variant False GPR63@p.L92V 1 0.12962963 ENSG00000112218 chr6:96799458-96799458;G/C missense_variant False GPR63@p.C103F 1 0.258064516 ENSG00000112218 chr6:96799424-96799424;C/A missense_variant False GPR50@p.S383Y 1 0.117021277 ENSG00000102195 chrX:151180731-151180731;C/A missense_variant False GPR62@p.E364K 1 0.3 ENSG00000180929 chr3:51956742-51956742;G/A missense_variant False GPR62@p.E343K 1 0.714285714 ENSG00000180929 chr3:51956679-51956679;G/A missense_variant False GPR55@p.E17K 1 0.18 ENSG00000135898 chr2:230910914-230910914;C/T missense_variant False GPR55@p.D174V 1 0.457627119 ENSG00000135898 chr2:230910442-230910442;T/A missense_variant False GPR52@p.M14I 1 0.10483871 ENSG00000203737 chr1:174448153-174448153;G/T missense_variant False GPR50@p.S471C 1 0.32967033 ENSG00000102195 chrX:151180995-151180995;C/G missense_variant False GPR6@p.A173T 1 0.45045045 ENSG00000146360 chr6:109979629-109979629;G/A missense_variant False GPR6@p.F288L 1 0.225 ENSG00000146360 chr6:109979976-109979976;C/A missense_variant False GPR6@p.I97T 1 0.212389381 ENSG00000146360 chr6:109979402-109979402;T/C missense_variant False GPR6@p.R338C 1 0.086538462 ENSG00000146360 chr6:109980124-109980124;C/T missense_variant False GPR6@p.R355H 1 0.125 ENSG00000146360 chr6:109980176-109980176;G/A missense_variant False GPR6@p.V111I 1 0.505154639 ENSG00000146360 chr6:109979443-109979443;G/A missense_variant False GPR75@p.D262N 1 0.229166667 ENSG00000119737 chr2:53853973-53853973;C/T missense_variant False GPR75@p.F352L 1 0.173553719 ENSG00000119737 chr2:53853701-53853701;G/C missense_variant False GPR75@p.F81S 1 0.528735632 ENSG00000119737 chr2:53854515-53854515;A/G missense_variant False GPR75@p.L190V 1 0.306122449 ENSG00000119737 chr2:53854189-53854189;G/C missense_variant False GPR75@p.P502T 1 0.219858156 ENSG00000119737 chr2:53853253-53853253;G/T missense_variant False GPR75@p.R378W 1 0.445783133 ENSG00000119737 chr2:53853625-53853625;G/A missense_variant False GPR75@p.S307L 1 0.20754717 ENSG00000119737 chr2:53853837-53853837;G/A missense_variant False GPR78@p.L327V 1 0.070175439 ENSG00000155269 chr4:8587250-8587250;C/G missense_variant False GPR82@p.M99T 1 0.28 ENSG00000171657 chrX:41727322-41727322;T/C missense_variant False GPR83@p.E355Q 1 0.186046512 ENSG00000123901 chr11:94380358-94380358;C/G missense_variant False GPR83@p.F228L 1 0.1875 ENSG00000123901 chr11:94380737-94380737;G/T missense_variant False GPR50@p.S399F 1 0.485714286 ENSG00000102195 chrX:151180779-151180779;C/T missense_variant False GPR50@p.N473K 1 0.172588832 ENSG00000102195 chrX:151181002-151181002;C/A missense_variant False GPR84@p.R344T 1 0.295652174 ENSG00000139572 chr12:54362821-54362821;C/G missense_variant False GPR37@p.Q147E 1 0.092682927 ENSG00000170775 chr7:124764538-124764538;G/C missense_variant False GPR37L1@p.S213F 1 0.303797468 ENSG00000170075 chr1:202127748-202127748;C/T missense_variant False GPR37L1@p.S127C 1 0.230769231 ENSG00000170075 chr1:202123343-202123343;C/G missense_variant False GPR37L1@p.L178V 1 0.222222222 ENSG00000170075 chr1:202123495-202123495;C/G missense_variant False GPR37L1@p.C286Y 1 0.765432099 ENSG00000170075 chr1:202127967-202127967;G/A missense_variant False GPR37@p.S62F 1 0.1 ENSG00000170775 chr7:124764792-124764792;G/A missense_variant False GPR37@p.Q485K 1 0.205673759 ENSG00000170775 chr7:124746914-124746914;G/T missense_variant False GPR37@p.I510M 1 0.239583333 ENSG00000170775 chr7:124746837-124746837;G/C missense_variant False GPR50@p.F492L 1 0.311258278 ENSG00000102195 chrX:151181059-151181059;C/A missense_variant False GPR37@p.E150G 1 0.212765957 ENSG00000170775 chr7:124764528-124764528;T/C missense_variant False GPR35@p.S262T 1 0.1125 ENSG00000178623 chr2:240630737-240630737;G/C missense_variant False GPR35@p.E54D 1 0.144736842 ENSG00000178623 chr2:240630114-240630114;G/T missense_variant False GPR32@p.S136F 1 0.644859813 ENSG00000142511 chr19:50771007-50771007;C/T missense_variant False GPR32@p.Q203H 1 0.797619048 ENSG00000142511 chr19:50771209-50771209;G/C missense_variant False GPR31@p.S153C 1 0.426829268 ENSG00000120436 chr6:167157374-167157374;G/C missense_variant False GPR37L1@p.Y59_V60insN 1 0.464285714 ENSG00000170075 chr1:202123138-202123139;-/ACA inframe_insertion False GPR39@p.P4L 1 0.353535354 ENSG00000183840 chr2:132417053-132417053;C/T missense_variant False GPR39@p.R352L 1 0.52238806 ENSG00000183840 chr2:132645299-132645299;G/T missense_variant False GPR39@p.R53W 1 0.363636364 ENSG00000183840 chr2:132417199-132417199;C/T missense_variant False GPR39@p.S194C 1 0.438596491 ENSG00000183840 chr2:132417623-132417623;C/G missense_variant False GPR45@p.A64T 1 0.699386503 ENSG00000135973 chr2:105242048-105242048;G/A missense_variant False GPR45@p.D131H 1 0.145454545 ENSG00000135973 chr2:105242249-105242249;G/C missense_variant False GPR45@p.K316T 1 0.123376623 ENSG00000135973 chr2:105242805-105242805;A/C missense_variant False GPR45@p.M44I 1 0.25477707 ENSG00000135973 chr2:105241990-105241990;G/A missense_variant False GPR4@p.I103M 1 0.294117647 ENSG00000177464 chr19:45591558-45591558;G/C missense_variant False GPR4@p.L39V 1 0.482758621 ENSG00000177464 chr19:45591752-45591752;G/C missense_variant False GPR4@p.R247C 1 0.424657534 ENSG00000177464 chr19:45591128-45591128;G/A missense_variant False GPR4@p.S150W 1 0.230769231 ENSG00000177464 chr19:45591418-45591418;G/C missense_variant False GPR50@p.A332V 1 0.190140845 ENSG00000102195 chrX:151180578-151180578;C/T missense_variant False GPR50@p.A357V 1 0.216666667 ENSG00000102195 chrX:151180653-151180653;C/T missense_variant False GPR50@p.D42H 1 0.06779661 ENSG00000102195 chrX:151176845-151176845;G/C missense_variant False GPR50@p.F460L 1 0.200668896 ENSG00000102195 chrX:151180963-151180963;C/G missense_variant False GPR84@p.R305K 1 0.263681592 ENSG00000139572 chr12:54362938-54362938;C/T missense_variant False GPR85@p.F106L 1 0.176470588 ENSG00000164604 chr7:113084404-113084404;G/C missense_variant False GPSM2@p.R642K 1 0.260869565 ENSG00000121957 chr1:108929810-108929810;G/A missense_variant False GPRIN1@p.R463W 1 0.358208955 ENSG00000169258 chr5:176598448-176598448;T/A missense_variant False GPRIN3@p.D153H 1 0.225490196 ENSG00000185477 chr4:89249654-89249654;C/G missense_variant False GPRIN3@p.A669T 1 0.126984127 ENSG00000185477 chr4:89248106-89248106;C/T missense_variant False GPRIN2@p.S78F 1 0.142857143 ENSG00000204175 chr10:46550504-46550504;G/A missense_variant False GPRIN2@p.L270Cfs*7 1 0.12295082 ENSG00000204175 chr10:46549933-46549933;A/- frameshift_variant False GPRIN2@p.E65Q 1 0.168674699 ENSG00000204175 chr10:46550544-46550544;C/G missense_variant False GPRIN2@p.E214K 1 0.230769231 ENSG00000204175 chr10:46550097-46550097;C/T missense_variant False GPRIN1@p.R239T 1 0.144827586 ENSG00000169258 chr5:176599119-176599119;C/G missense_variant False GPRC5D@p.R49Q 1 0.487179487 ENSG00000111291 chr12:12950239-12950239;C/T missense_variant False GPRIN1@p.L211V 1 0.195652174 ENSG00000169258 chr5:176599204-176599204;G/C missense_variant False GPRC6A@p.W208C 1 0.100775194 ENSG00000173612 chr6:116807081-116807081;C/G missense_variant False GPRC6A@p.R181H 1 0.6125 ENSG00000173612 chr6:116807163-116807163;C/T missense_variant False GPRC6A@p.P438L 1 0.171875 ENSG00000173612 chr6:116806392-116806392;G/A missense_variant False GPRC6A@p.H360Q 1 0.204545455 ENSG00000173612 chr6:116806625-116806625;A/C missense_variant False GPRC6A@p.C834F 1 0.169811321 ENSG00000173612 chr6:116792422-116792422;C/A missense_variant False GPRIN3@p.E494K 1 0.281045752 ENSG00000185477 chr4:89248631-89248631;C/T missense_variant False GPRIN3@p.M156I 1 0.304347826 ENSG00000185477 chr4:89249643-89249643;C/T missense_variant False GPS1@p.E226Q 1 0.144444444 ENSG00000169727 chr17:82054952-82054952;G/C missense_variant False GPS1@p.N394Qfs*44 1 0.142857143 ENSG00000169727 chr17:82056678-82056679;-/C frameshift_variant False GPS1@p.V36M 1 0.253731343 ENSG00000169727 chr17:82053346-82053346;G/A missense_variant False GPS2@p.F216L 1 0.693877551 ENSG00000132522 chr17:7313456-7313456;G/T missense_variant False GPS2@p.H84Q 1 0.820512821 ENSG00000132522 chr17:7314356-7314356;G/C missense_variant False GPS2@p.S61L 1 0.454545455 ENSG00000132522 chr17:7314510-7314510;G/A missense_variant False GPSM1@p.D553N 1 0.551724138 ENSG00000160360 chr9:136356386-136356386;G/A missense_variant False GPSM1@p.E594K 1 0.866666667 ENSG00000160360 chr9:136356509-136356509;G/A missense_variant False GPSM1@p.R587L 1 0.195652174 ENSG00000160360 chr9:136356489-136356489;G/T missense_variant False GPSM1@p.S545L 1 0.5 ENSG00000160360 chr9:136356363-136356363;C/T missense_variant False GPSM2@p.A28S 1 0.231481481 ENSG00000121957 chr1:108896889-108896889;G/T missense_variant False GPSM2@p.F547Lfs*27 1 0.107142857 ENSG00000121957 chr1:108924040-108924043;TTTA/- frameshift_variant False GPSM2@p.L375V 1 0.324324324 ENSG00000121957 chr1:108904185-108904185;C/G missense_variant False GPSM2@p.P624S 1 0.166666667 ENSG00000121957 chr1:108929755-108929755;C/T missense_variant False GPSM2@p.R353K 1 0.315789474 ENSG00000121957 chr1:108903230-108903230;G/A missense_variant False GPRC6A@p.A43V 1 0.412698413 ENSG00000173612 chr6:116828886-116828886;G/A missense_variant False GPRC5C@p.V394F 1 0.508474576 ENSG00000170412 chr17:74440821-74440821;G/T missense_variant False GPR85@p.I370T 1 0.069767442 ENSG00000164604 chr7:113083613-113083613;A/G missense_variant False GPR89A@p.R109Q 1 0.377358491 ENSG00000188092 chr1:145623625-145623625;G/A missense_variant False GPR89B@p.I43M 1 0.195121951 ENSG00000188092 chr1:147938740-147938740;C/G missense_variant False GPR89B@p.F310Y 1 0.343373494 ENSG00000188092 chr1:147986218-147986218;T/A missense_variant False GPR89B@p.F24L 1 0.148305085 ENSG00000188092 chr1:147936656-147936656;C/G missense_variant False GPR89B@p.E61Q 1 0.142857143 ENSG00000188092 chr1:147938792-147938792;G/C missense_variant False GPR89A@p.V309L 1 0.142857143 ENSG00000188092 chr1:145663344-145663344;G/C missense_variant False GPR89A@p.R274K 1 0.242424242 ENSG00000188092 chr1:145647179-145647179;G/A missense_variant False GPR89A@p.G331E 1 0.056074766 ENSG00000188092 chr1:145663411-145663411;G/A missense_variant False GPRC5C@p.G231Afs*118 1 0.203703704 ENSG00000170412 chr17:74440331-74440331;G/- frameshift_variant False GPR89A@p.D267Y 1 0.2734375 ENSG00000188092 chr1:145646255-145646255;G/T missense_variant False GPR88@p.Q150E 1 0.125 ENSG00000181656 chr1:100539414-100539414;C/G missense_variant False GPR87@p.V64M 1 0.403508772 ENSG00000138271 chr3:151295056-151295056;C/T missense_variant False GPR87@p.E348Q 1 0.068627451 ENSG00000138271 chr3:151294204-151294204;C/G missense_variant False GPR87@p.D310H 1 0.089655172 ENSG00000138271 chr3:151294318-151294318;C/G missense_variant False GPR85@p.R348C 1 0.448717949 ENSG00000164604 chr7:113083680-113083680;G/A missense_variant False GPR89B@p.S7C 1 0.296703297 ENSG00000188092 chr1:147928556-147928556;C/G missense_variant False GPR89B@p.Y442C 1 0.243243243 ENSG00000188092 chr1:147992874-147992874;A/G missense_variant False GPRASP1@p.E548Q 1 0.817204301 ENSG00000198932 chrX:102655555-102655555;G/C missense_variant False GPRASP1@p.E999K 1 0.28125 ENSG00000198932 chrX:102656908-102656908;G/A missense_variant False GPRASP1@p.F708L 1 0.365853659 ENSG00000198932 chrX:102656037-102656037;C/G missense_variant False GPRASP1@p.G1196D 1 0.545454545 ENSG00000198932 chrX:102657500-102657500;G/A missense_variant False GPRASP1@p.L803P 1 0.129032258 ENSG00000198932 chrX:102656321-102656321;T/C missense_variant False GPRASP1@p.P1169S 1 0.64 ENSG00000198932 chrX:102657418-102657418;C/T missense_variant False GPRASP1@p.P76A 1 0.838095238 ENSG00000198932 chrX:102654139-102654139;C/G missense_variant False GPRASP1@p.S182C 1 0.253731343 ENSG00000198932 chrX:102654458-102654458;C/G missense_variant False GPRASP1@p.W1005R 1 0.8125 ENSG00000198932 chrX:102656926-102656926;T/C missense_variant False GPRASP2@p.A120V 1 0.151785714 ENSG00000158301 chrX:102715228-102715228;C/T missense_variant False GPRASP2@p.K754T 1 0.843137255 ENSG00000158301 chrX:102717130-102717130;A/C missense_variant False GPRASP2@p.R353K 1 0.194444444 ENSG00000158301 chrX:102715927-102715927;G/A missense_variant False GPRC5A@p.P278A 1 0.125 ENSG00000013588 chr12:12909081-12909081;C/G missense_variant False GPRC5B@p.E29K 1 0.311111111 ENSG00000167191 chr16:19872761-19872761;C/T missense_variant False GPRC5B@p.G64A 1 0.2375 ENSG00000167191 chr16:19872655-19872655;C/G missense_variant False GRID2@p.L482V 1 0.225806452 ENSG00000152208 chr4:93422867-93422867;C/G missense_variant False GRID2@p.R1003Q 1 0.49382716 ENSG00000152208 chr4:93772482-93772482;G/A missense_variant False GSPT2@p.T588K 1 0.3625 ENSG00000189369 chrX:51745389-51745389;C/A missense_variant False GRM5@p.F231L 1 0.4 ENSG00000168959 chr11:88850124-88850124;G/C missense_variant False GRM5@p.Q919H 1 0.457142857 ENSG00000168959 chr11:88509474-88509474;C/G missense_variant False GRM5@p.M907V 1 0.513761468 ENSG00000168959 chr11:88525316-88525316;T/C missense_variant False GRM5@p.H267N 1 0.447916667 ENSG00000168959 chr11:88850018-88850018;G/T missense_variant False GRM5@p.G92D 1 0.419354839 ENSG00000168959 chr11:89047598-89047598;C/T missense_variant False GRM5@p.G652C 1 0.357142857 ENSG00000168959 chr11:88567729-88567729;C/A missense_variant False GRM5@p.G526A 1 0.380952381 ENSG00000168959 chr11:88590714-88590714;C/G missense_variant False GRM5@p.F185L 1 0.447368421 ENSG00000168959 chr11:89047318-89047318;G/T missense_variant False GRM5@p.R272Q 1 0.133333333 ENSG00000168959 chr11:88850002-88850002;C/T missense_variant False GRM5@p.E579K 1 0.404761905 ENSG00000168959 chr11:88567948-88567948;C/T missense_variant False GRM5@p.A710S 1 0.177777778 ENSG00000168959 chr11:88567555-88567555;C/A missense_variant False GRM5@p.A692V 1 0.424657534 ENSG00000168959 chr11:88567608-88567608;G/A missense_variant False GRM4@p.V123A 1 0.16 ENSG00000124493 chr6:34133129-34133129;A/G missense_variant False GRM4@p.S110F 1 0.25 ENSG00000124493 chr6:34133168-34133168;G/A missense_variant False GRM4@p.R88H 1 0.289473684 ENSG00000124493 chr6:34133234-34133234;C/T missense_variant False GRM5@p.R128C 1 0.324324324 ENSG00000168959 chr11:89047491-89047491;G/A missense_variant False GRM5@p.R524Q 1 0.303571429 ENSG00000168959 chr11:88590720-88590720;C/T missense_variant False GRID2@p.R147G 1 0.157894737 ENSG00000152208 chr4:93085189-93085189;C/G missense_variant False GRM6@p.V775M 1 0.264705882 ENSG00000113262 chr5:178983023-178983023;C/T missense_variant False GRM7@p.M425I 1 0.181818182 ENSG00000196277 chr3:7452707-7452707;G/A missense_variant False GRM7@p.G152V 1 0.409090909 ENSG00000196277 chr3:6861843-6861843;G/T missense_variant False GRM7@p.E546K 1 0.297029703 ENSG00000196277 chr3:7578542-7578542;G/A missense_variant False GRM7@p.E356K 1 0.254901961 ENSG00000196277 chr3:7415055-7415055;G/A missense_variant False GRM7@p.E236K 1 0.345454545 ENSG00000196277 chr3:7146638-7146638;G/A missense_variant False GRM7@p.D130G 1 0.43373494 ENSG00000196277 chr3:6861777-6861777;A/G missense_variant False GRM6@p.P847S 1 0.213872832 ENSG00000113262 chr5:178981752-178981752;G/A missense_variant False GRM5@p.S136Y 1 0.357142857 ENSG00000168959 chr11:89047466-89047466;G/T missense_variant False GRM6@p.P521L 1 0.25 ENSG00000113262 chr5:178986692-178986692;G/A missense_variant False GRM6@p.D406V 1 0.202898551 ENSG00000113262 chr5:178989072-178989072;T/A missense_variant False GRM6@p.A782V 1 0.743801653 ENSG00000113262 chr5:178983001-178983001;G/A missense_variant False GRM6@p.A636T 1 0.59375 ENSG00000113262 chr5:178986348-178986348;C/T missense_variant False GRM5@p.T326R 1 0.129032258 ENSG00000168959 chr11:88653338-88653338;G/C missense_variant False GRM5@p.T1199I 1 0.285714286 ENSG00000168959 chr11:88508635-88508635;G/A missense_variant False GRM4@p.R679H 1 0.372093023 ENSG00000124493 chr6:34036074-34036074;C/T missense_variant False GRM4@p.I657M 1 0.098039216 ENSG00000124493 chr6:34036139-34036139;G/C missense_variant False GRM4@p.G158E 1 0.5 ENSG00000124493 chr6:34133024-34133024;C/T missense_variant False GRM1@p.E1121Q 1 0.081081081 ENSG00000152822 chr6:146434572-146434572;G/C missense_variant False GRM1@p.Q170E 1 0.301724138 ENSG00000152822 chr6:146030025-146030025;C/G missense_variant False GRM1@p.N1060Tfs*23 1 0.425925926 ENSG00000152822 chr6:146434383-146434383;C/- frameshift_variant False GRM1@p.M442I 1 0.15 ENSG00000152822 chr6:146352389-146352389;G/A missense_variant False GRM1@p.E958Q 1 0.226804124 ENSG00000152822 chr6:146434083-146434083;G/C missense_variant False GRM1@p.E554K 1 0.146341463 ENSG00000152822 chr6:146386947-146386947;G/A missense_variant False GRM1@p.E471D 1 0.338983051 ENSG00000152822 chr6:146352476-146352476;G/C missense_variant False GRM1@p.D179H 1 0.193103448 ENSG00000152822 chr6:146030052-146030052;G/C missense_variant False GRM4@p.E624K 1 0.333333333 ENSG00000124493 chr6:34036240-34036240;C/T missense_variant False GRM1@p.C544S 1 0.214285714 ENSG00000152822 chr6:146386917-146386917;T/A missense_variant False GRM1@p.A986V 1 0.13740458 ENSG00000152822 chr6:146434168-146434168;C/T missense_variant False GRM1@p.A800D 1 0.263636364 ENSG00000152822 chr6:146399438-146399438;C/A missense_variant False GRM1@p.A636P 1 0.187096774 ENSG00000152822 chr6:146398945-146398945;G/C missense_variant False GRK7@p.L403V 1 0.409090909 ENSG00000114124 chr3:141807801-141807801;C/G missense_variant False GRK7@p.E142Q 1 0.156862745 ENSG00000114124 chr3:141778708-141778708;G/C missense_variant False GRM1@p.R221C 1 0.370967742 ENSG00000152822 chr6:146030178-146030178;C/T missense_variant False GRM1@p.S112C 1 0.236363636 ENSG00000152822 chr6:146029852-146029852;C/G missense_variant False GRM1@p.S52L 1 0.303278689 ENSG00000152822 chr6:146029672-146029672;C/T missense_variant False GRM1@p.S853C 1 0.319148936 ENSG00000152822 chr6:146399597-146399597;C/G missense_variant False GRM1@p.Y1111F 1 0.340206186 ENSG00000152822 chr6:146434543-146434543;A/T missense_variant False GRM2@p.E239K 1 0.378378378 ENSG00000164082 chr3:51712737-51712737;G/A missense_variant False GRM2@p.E308K 1 0.142857143 ENSG00000164082 chr3:51712944-51712944;G/A missense_variant False GRM2@p.E312K 1 0.62195122 ENSG00000164082 chr3:51712956-51712956;G/A missense_variant False GRM2@p.L155F 1 0.351648352 ENSG00000164082 chr3:51712487-51712487;G/C missense_variant False GRM2@p.M245I 1 0.133333333 ENSG00000164082 chr3:51712757-51712757;G/C missense_variant False GRM2@p.R71H 1 0.207272727 ENSG00000164082 chr3:51709195-51709195;G/A missense_variant False GRM2@p.S844F 1 0.213114754 ENSG00000164082 chr3:51717803-51717803;C/T missense_variant False GRM3@p.A305V 1 0.145454545 ENSG00000198822 chr7:86786706-86786706;C/T missense_variant False GRM3@p.D221Y 1 0.106382979 ENSG00000198822 chr7:86786453-86786453;G/T missense_variant False GRM3@p.F359L 1 0.079545455 ENSG00000198822 chr7:86786869-86786869;T/A missense_variant False GRM3@p.F770L 1 0.526315789 ENSG00000198822 chr7:86839824-86839824;C/A missense_variant False GRM3@p.Y222C 1 0.104166667 ENSG00000198822 chr7:86786457-86786457;A/G missense_variant False GRM7@p.P147L 1 0.227272727 ENSG00000196277 chr3:6861828-6861828;C/T missense_variant False GRM7@p.Q337E 1 0.103773585 ENSG00000196277 chr3:7306628-7306628;C/G missense_variant False GRM7@p.R659Q 1 0.041666667 ENSG00000196277 chr3:7578882-7578882;G/A missense_variant False GSE1@p.G659E 1 0.272727273 ENSG00000131149 chr16:85661481-85661481;G/A missense_variant False GSG1@p.S20L 1 0.636363636 ENSG00000111305 chr12:13090808-13090808;G/A missense_variant False GSG1@p.F276L 1 0.097222222 ENSG00000111305 chr12:13085162-13085162;G/C missense_variant False GSG1@p.E64K 1 0.380116959 ENSG00000111305 chr12:13090677-13090677;C/T missense_variant False GSG1@p.D3H 1 0.095890411 ENSG00000111305 chr12:13103506-13103506;C/G missense_variant False GSE1@p.S12L 1 0.438095238 ENSG00000131149 chr16:85633941-85633941;C/T missense_variant False GSE1@p.P1066A 1 0.274285714 ENSG00000131149 chr16:85668205-85668205;C/G missense_variant False GSE1@p.E959Q 1 0.1 ENSG00000131149 chr16:85666092-85666092;G/C missense_variant False GSDMD@p.E15K 1 0.35483871 ENSG00000104518 chr8:143559378-143559378;G/A missense_variant False GSDME@p.L310F 1 0.239130435 ENSG00000105928 chr7:24708187-24708187;C/G missense_variant False GSDME@p.F388L 1 0.161764706 ENSG00000105928 chr7:24706203-24706203;G/C missense_variant False GSDME@p.E177K 1 0.328767123 ENSG00000105928 chr7:24719094-24719094;C/T missense_variant False GSDME@p.A272V 1 0.231884058 ENSG00000105928 chr7:24710271-24710271;G/A missense_variant False GSDMD@p.S225C 1 0.205882353 ENSG00000104518 chr8:143561096-143561096;C/G missense_variant False GSDMD@p.S210L 1 0.111111111 ENSG00000104518 chr8:143561051-143561051;C/T missense_variant False GSG1@p.S20P 1 0.309090909 ENSG00000111305 chr12:13090809-13090809;A/G missense_variant False GSG1L@p.R210I 1 0.580645161 ENSG00000169181 chr16:27844983-27844983;C/A missense_variant False GSG1L@p.S130L 1 0.367346939 ENSG00000169181 chr16:27963164-27963164;G/A missense_variant False GSK3A@p.K154N 1 0.125 ENSG00000105723 chr19:42239964-42239964;C/G missense_variant False GSK3A@p.Q358E 1 0.215384615 ENSG00000105723 chr19:42233136-42233136;G/C missense_variant False GSK3B@p.Q295E 1 0.178082192 ENSG00000082701 chr3:119876439-119876439;G/C missense_variant False GSK3B@p.T59I 1 0.157692308 ENSG00000082701 chr3:120002152-120002152;G/A missense_variant False GSKIP@p.E38Q 1 0.101694915 ENSG00000100744 chr14:96382359-96382359;G/C missense_variant False GSKIP@p.L133F 1 0.516556291 ENSG00000100744 chr14:96385663-96385663;G/C missense_variant False GSN@p.F176L 1 0.162790698 ENSG00000148180 chr9:121310707-121310707;C/G missense_variant False GSN@p.G470R 1 0.222222222 ENSG00000148180 chr9:121321331-121321331;G/A missense_variant False GSPT1@p.E497Q 1 0.056603774 ENSG00000103342 chr16:11873130-11873130;C/G missense_variant False GSPT1@p.H257Y 1 0.255555556 ENSG00000103342 chr16:11886541-11886541;G/A missense_variant False GSPT2@p.D30Y 1 0.529411765 ENSG00000189369 chrX:51743714-51743714;G/T missense_variant False GSPT2@p.D523H 1 0.132075472 ENSG00000189369 chrX:51745193-51745193;G/C missense_variant False GSPT2@p.E626Q 1 0.804878049 ENSG00000189369 chrX:51745502-51745502;G/C missense_variant False GSPT2@p.P61S 1 0.3 ENSG00000189369 chrX:51743807-51743807;C/T missense_variant False GSDMD@p.M266I 1 0.611111111 ENSG00000104518 chr8:143561803-143561803;G/T missense_variant False GSDMC@p.S70C 1 0.328125 ENSG00000147697 chr8:129777379-129777379;G/C missense_variant False GRM7@p.R859Q 1 0.461538462 ENSG00000196277 chr3:7680173-7680173;G/A missense_variant False GRN@p.D217N 1 0.297619048 ENSG00000030582 chr17:44350741-44350741;G/A missense_variant False GRPEL1@p.Q90H 1 0.236486486 ENSG00000109519 chr4:7062422-7062422;C/G missense_variant False GRPEL1@p.E63D 1 0.587155963 ENSG00000109519 chr4:7064097-7064097;C/A missense_variant False GRP@p.Q137E 1 0.490909091 ENSG00000165623 chr18:59230430-59230430;C/G missense_variant False GRN@p.R101Q 1 0.277777778 ENSG00000030582 chr17:44349704-44349704;G/A missense_variant False GRN@p.H97Y 1 0.189189189 ENSG00000030582 chr17:44349691-44349691;C/T missense_variant False GRN@p.G93E 1 0.532258065 ENSG00000030582 chr17:44349680-44349680;G/A missense_variant False GRM8@p.R354Q 1 0.591836735 ENSG00000179603 chr7:126902637-126902637;C/T missense_variant False GSDMC@p.Q457H 1 0.369565217 ENSG00000147697 chr8:129748657-129748657;C/G missense_variant False GRM8@p.Q850E 1 0.207317073 ENSG00000179603 chr7:126446255-126446255;G/C missense_variant False GRM8@p.L818R 1 0.15942029 ENSG00000179603 chr7:126446350-126446350;A/C missense_variant False GRM8@p.H380Y 1 0.1 ENSG00000179603 chr7:126902560-126902560;G/A missense_variant False GRM8@p.E887D 1 0.043165468 ENSG00000179603 chr7:126446142-126446142;C/G missense_variant False GRM8@p.E620K 1 0.472222222 ENSG00000179603 chr7:126533524-126533524;C/T missense_variant False GRM7@p.Y910D 1 0.164179104 ENSG00000196277 chr3:7740386-7740386;T/G missense_variant False GRPEL2@p.E179K 1 0.058064516 ENSG00000164284 chr5:149351139-149351139;G/A missense_variant False GRPEL2@p.V195M 1 0.464 ENSG00000164284 chr5:149351187-149351187;G/A missense_variant False GRSF1@p.H360R 1 0.253012048 ENSG00000132463 chr4:70827908-70827908;T/C missense_variant False GRSF1@p.I319T 1 0.274509804 ENSG00000132463 chr4:70828031-70828031;A/G missense_variant False GRTP1@p.E21Q 1 0.473684211 ENSG00000139835 chr13:113363882-113363882;C/G missense_variant False GRTP1@p.K67E 1 0.162790698 ENSG00000139835 chr13:113355464-113355464;T/C missense_variant False GRTP1@p.Q90H 1 0.31372549 ENSG00000139835 chr13:113355393-113355393;C/G missense_variant False GRTP1@p.S231F 1 0.114035088 ENSG00000139835 chr13:113325962-113325962;G/A missense_variant False GRTP1@p.Y94N 1 0.263157895 ENSG00000139835 chr13:113355383-113355383;A/T missense_variant False GRWD1@p.T357I 1 0.676829268 ENSG00000105447 chr19:48452754-48452754;C/T missense_variant False GRXCR1@p.C50G 1 0.067873303 ENSG00000215203 chr4:42893414-42893414;T/G missense_variant False GRXCR1@p.D53H 1 0.382113821 ENSG00000215203 chr4:42893423-42893423;G/C missense_variant False GSAP@p.E207K 1 0.149253731 ENSG00000186088 chr7:77377348-77377348;C/T missense_variant False GSAP@p.I232M 1 0.307692308 ENSG00000186088 chr7:77376893-77376893;G/C missense_variant False GSC@p.S223L 1 0.2 ENSG00000133937 chr14:94768597-94768597;G/A missense_variant False GSC@p.V197A 1 0.583333333 ENSG00000133937 chr14:94768983-94768983;A/G missense_variant False GSDMA@p.L289R 1 0.130434783 ENSG00000167914 chr17:39974387-39974387;T/G missense_variant False GRK7@p.C60G 1 0.588235294 ENSG00000114124 chr3:141778462-141778462;T/G missense_variant False GRK6@p.T208I 1 0.06 ENSG00000198055 chr5:177433561-177433561;C/T missense_variant False GRK6@p.P534S 1 0.24 ENSG00000198055 chr5:177440976-177440976;C/T missense_variant False GRIK5@p.E837K 1 0.671641791 ENSG00000105737 chr19:42003337-42003337;C/T missense_variant False GRIK5@p.R132H 1 0.053191489 ENSG00000105737 chr19:42062601-42062601;C/T missense_variant False GRIK5@p.Q33H 1 0.323529412 ENSG00000105737 chr19:42065368-42065368;C/G missense_variant False GRIK5@p.P544L 1 0.457142857 ENSG00000105737 chr19:42022013-42022013;G/A missense_variant False GRIK5@p.L332V 1 0.393442623 ENSG00000105737 chr19:42054382-42054382;G/C missense_variant False GRIK5@p.K532N 1 0.428571429 ENSG00000105737 chr19:42022048-42022048;C/A missense_variant False GRIK5@p.G111R 1 0.289156627 ENSG00000105737 chr19:42062769-42062769;C/T missense_variant False GRIK4@p.S5L 1 0.141025641 ENSG00000149403 chr11:120660332-120660332;C/T missense_variant False GRIK3@p.T388M 1 0.234042553 ENSG00000163873 chr1:36853664-36853664;G/A missense_variant False GRIK4@p.P935S 1 0.7 ENSG00000149403 chr11:120986192-120986192;C/T missense_variant False GRIK4@p.L520V 1 0.847457627 ENSG00000149403 chr11:120940428-120940428;C/G missense_variant False GRIK4@p.I68M 1 0.367647059 ENSG00000149403 chr11:120802814-120802814;C/G missense_variant False GRIK4@p.E65Q 1 0.159090909 ENSG00000149403 chr11:120802803-120802803;G/C missense_variant False GRIK4@p.E321K 1 0.425531915 ENSG00000149403 chr11:120874120-120874120;G/A missense_variant False GRIK4@p.E280Q 1 0.098901099 ENSG00000149403 chr11:120862052-120862052;G/C missense_variant False GRIK5@p.R151Q 1 0.475247525 ENSG00000105737 chr19:42062544-42062544;C/T missense_variant False GRIK5@p.R832W 1 0.352941176 ENSG00000105737 chr19:42003352-42003352;T/A missense_variant False GRIK5@p.S756F 1 0.444444444 ENSG00000105737 chr19:42003680-42003680;G/A missense_variant False GRIK5@p.V145F 1 0.154545455 ENSG00000105737 chr19:42062563-42062563;C/A missense_variant False GRIN1@p.D283N 1 0.727272727 ENSG00000176884 chr9:137156916-137156916;G/A missense_variant False GRIN1@p.E253K 1 0.636363636 ENSG00000176884 chr9:137156754-137156754;G/A missense_variant False GRIN1@p.E297Q 1 0.291666667 ENSG00000176884 chr9:137156958-137156958;G/C missense_variant False GRIN1@p.R801P 1 0.625 ENSG00000176884 chr9:137163627-137163627;G/C missense_variant False GRIN1@p.V362L 1 0.24137931 ENSG00000176884 chr9:137158494-137158494;G/T missense_variant False GRIN2A@p.F849L 1 0.244186047 ENSG00000183454 chr16:9768899-9768899;G/T missense_variant False GRIN2A@p.G1243V 1 0.572580645 ENSG00000183454 chr16:9763816-9763816;C/A missense_variant False GRIN2A@p.G345Afs*19 1 0.649553571 ENSG00000183454 chr16:9891074-9891074;C/- frameshift_variant False GRIN2A@p.L307V 1 0.161290323 ENSG00000183454 chr16:9938047-9938047;G/C missense_variant False GRIN2A@p.M705I 1 0.107526882 ENSG00000183454 chr16:9822317-9822317;C/G missense_variant False GRIN2A@p.P258L 1 0.301587302 ENSG00000183454 chr16:9938193-9938193;G/A missense_variant False GRIN2A@p.R1114T 1 0.165217391 ENSG00000183454 chr16:9764203-9764203;C/G missense_variant False GRIN2A@p.R692T 1 0.219354839 ENSG00000183454 chr16:9822357-9822357;C/G missense_variant False GRIK3@p.Y684F 1 0.2 ENSG00000163873 chr1:36817100-36817100;T/A missense_variant False GRIK3@p.T183S 1 0.130016051 ENSG00000163873 chr1:36880637-36880637;T/A missense_variant False GRIN2A@p.S547C 1 0.357142857 ENSG00000183454 chr16:9840658-9840658;G/C missense_variant False GRIK1@p.P500H 1 0.214765101 ENSG00000171189 chr21:29588909-29588909;G/T missense_variant False GRIK2@p.E217Q 1 0.166666667 ENSG00000164418 chr6:101676730-101676730;G/C missense_variant False GRIK2@p.D79N 1 0.835443038 ENSG00000164418 chr6:101622068-101622068;G/A missense_variant False GRIK2@p.A828T 1 0.207317073 ENSG00000164418 chr6:102055500-102055500;G/A missense_variant False GRIK1@p.Y789C 1 0.152542373 ENSG00000171189 chr21:29555293-29555293;T/C missense_variant False GRIK1@p.T794S 1 0.25 ENSG00000171189 chr21:29555278-29555278;G/C missense_variant False GRIK1@p.R69Q 1 0.282051282 ENSG00000171189 chr21:29693976-29693976;C/T missense_variant False GRIK1@p.E758Q 1 0.584269663 ENSG00000171189 chr21:29561708-29561708;C/G missense_variant False GRIK3@p.R223Q 1 0.2 ENSG00000163873 chr1:36872252-36872252;C/T missense_variant False GRIK1@p.E677Q 1 0.189393939 ENSG00000171189 chr21:29577065-29577065;C/G missense_variant False GRIK1@p.E397Q 1 0.567164179 ENSG00000171189 chr21:29598847-29598847;C/G missense_variant False GRIK1@p.D98N 1 0.222222222 ENSG00000171189 chr21:29689980-29689980;C/T missense_variant False GRIK1@p.D501N 1 0.184397163 ENSG00000171189 chr21:29588907-29588907;C/T missense_variant False GRIK1@p.D153Y 1 0.3875 ENSG00000171189 chr21:29689815-29689815;C/A missense_variant False GRID2@p.R710Q 1 0.388888889 ENSG00000152208 chr4:93515347-93515347;G/A missense_variant False GRIK2@p.E905Q 1 0.27027027 ENSG00000164418 chr6:102068497-102068497;G/C missense_variant False GRIK2@p.I392V 1 0.06 ENSG00000164418 chr6:101802409-101802409;A/G missense_variant False GRIK2@p.L345M 1 0.359375 ENSG00000164418 chr6:101799729-101799729;T/A missense_variant False GRIK2@p.L383F 1 0.071428571 ENSG00000164418 chr6:101802384-101802384;G/C missense_variant False GRIK2@p.L536H 1 0.184397163 ENSG00000164418 chr6:101889722-101889722;T/A missense_variant False GRIK2@p.Q81R 1 0.586538462 ENSG00000164418 chr6:101622075-101622075;A/G missense_variant False GRIK2@p.Q851H 1 0.233576642 ENSG00000164418 chr6:102055571-102055571;A/T missense_variant False GRIK2@p.R184H 1 0.328358209 ENSG00000164418 chr6:101676632-101676632;G/A missense_variant False GRIK2@p.R775G 1 0.223684211 ENSG00000164418 chr6:102055341-102055341;C/G missense_variant False GRIK2@p.V274A 1 0.265306122 ENSG00000164418 chr6:101686223-101686223;T/C missense_variant False GRIK2@p.V716A 1 0.219895288 ENSG00000164418 chr6:102035402-102035402;T/C missense_variant False GRIK3@p.A735V 1 0.089430894 ENSG00000163873 chr1:36806214-36806214;G/A missense_variant False GRIK3@p.D322N 1 0.210227273 ENSG00000163873 chr1:36859248-36859248;C/T missense_variant False GRIK3@p.D864N 1 0.265306122 ENSG00000163873 chr1:36802021-36802021;C/T missense_variant False GRIK3@p.E93Q 1 0.267605634 ENSG00000163873 chr1:36890935-36890935;C/G missense_variant False GRIK3@p.L79F 1 0.065934066 ENSG00000163873 chr1:36890975-36890975;C/G missense_variant False GRIK3@p.R201H 1 0.063380282 ENSG00000163873 chr1:36872318-36872318;C/T missense_variant False GRIN2A@p.S1020Y 1 0.068322981 ENSG00000183454 chr16:9764485-9764485;G/T missense_variant False GRIN2A@p.V1145M 1 0.232758621 ENSG00000183454 chr16:9764111-9764111;C/T missense_variant False GRK6@p.E377K 1 0.310344828 ENSG00000198055 chr5:177436144-177436144;G/A missense_variant False GRIP2@p.A629T 1 0.416666667 ENSG00000144596 chr3:14513710-14513710;C/T missense_variant False GRIP2@p.R869L 1 0.363636364 ENSG00000144596 chr3:14506884-14506884;C/A missense_variant False GRIP2@p.H54N 1 0.4 ENSG00000144596 chr3:14541922-14541922;G/T missense_variant False GRIP2@p.E322K 1 0.409090909 ENSG00000144596 chr3:14521681-14521681;C/T missense_variant False GRIP2@p.E265K 1 0.164705882 ENSG00000144596 chr3:14523064-14523064;C/T missense_variant False GRIP2@p.D1071N 1 0.722772277 ENSG00000144596 chr3:14494893-14494893;C/T missense_variant False GRIP2@p.A705G 1 0.130434783 ENSG00000144596 chr3:14511275-14511275;G/C missense_variant False GRIP1@p.T196M 1 0.342857143 ENSG00000155974 chr12:66515756-66515756;G/A missense_variant False GRIP1@p.A876P 1 0.104575163 ENSG00000155974 chr12:66377281-66377281;C/G missense_variant False GRIP1@p.T150A 1 0.369565217 ENSG00000155974 chr12:66529885-66529885;T/C missense_variant False GRIP1@p.S456P 1 0.259259259 ENSG00000155974 chr12:66445497-66445497;A/G missense_variant False GRIP1@p.K122N 1 0.066176471 ENSG00000155974 chr12:66539130-66539130;C/G missense_variant False GRIP1@p.G668A 1 0.589928058 ENSG00000155974 chr12:66394334-66394334;C/G missense_variant False GRIP1@p.G61C 1 0.202020202 ENSG00000155974 chr12:66541906-66541906;C/A missense_variant False GRIP1@p.E495K 1 0.397058824 ENSG00000155974 chr12:66445380-66445380;C/T missense_variant False GRIPAP1@p.E680K 1 0.538461538 ENSG00000068400 chrX:48978328-48978328;C/T missense_variant False GRIPAP1@p.R770C 1 0.064516129 ENSG00000068400 chrX:48975280-48975280;G/A missense_variant False GRIPAP1@p.S232F 1 0.5 ENSG00000068400 chrX:48989999-48989999;G/A missense_variant False GRK1@p.D317Tfs*64 1 0.214285714 ENSG00000185974 chr13:113671620-113671635;GACCTCAAGCCCGAGA/- frameshift_variant False GRK1@p.R312W 1 0.235294118 ENSG00000185974 chr13:113671605-113671605;C/T missense_variant False GRK1@p.V314I 1 0.36 ENSG00000185974 chr13:113671611-113671611;G/A missense_variant False GRK2@p.E167K 1 0.216666667 ENSG00000173020 chr11:67279896-67279896;G/A missense_variant False GRK2@p.E593K 1 0.166666667 ENSG00000173020 chr11:67284969-67284969;G/A missense_variant False GRK2@p.F572L 1 0.342857143 ENSG00000173020 chr11:67284908-67284908;C/G missense_variant False GRK2@p.I241M 1 0.19047619 ENSG00000173020 chr11:67281534-67281534;C/G missense_variant False GRK2@p.V609M 1 0.276595745 ENSG00000173020 chr11:67285108-67285108;G/A missense_variant False GRK3@p.E52K 1 0.285714286 ENSG00000100077 chr22:25604417-25604417;G/A missense_variant False GRK3@p.H348Y 1 0.176470588 ENSG00000100077 chr22:25690273-25690273;C/T missense_variant False GRK3@p.K618Nfs*7 1 0.158536585 ENSG00000100077 chr22:25721341-25721341;A/- frameshift_variant False GRK4@p.E4Q 1 0.222222222 ENSG00000125388 chr4:2964080-2964080;G/C missense_variant False GRK5@p.D427H 1 0.091836735 ENSG00000198873 chr10:119448135-119448135;G/C missense_variant False GRK5@p.V191M 1 0.481203008 ENSG00000198873 chr10:119430412-119430412;G/A missense_variant False GRIP1@p.E331K 1 0.127659574 ENSG00000155974 chr12:66462975-66462975;C/T missense_variant False GRINA@p.I157M 1 0.107317073 ENSG00000178719 chr8:143991783-143991783;C/G missense_variant False GRIN2A@p.V633A 1 0.712121212 ENSG00000183454 chr16:9829532-9829532;A/G missense_variant False GRIN2B@p.S546T 1 0.297520661 ENSG00000273079 chr12:13615132-13615132;A/T missense_variant False GRIN2C@p.P323L 1 0.166666667 ENSG00000161509 chr17:74852043-74852043;G/A missense_variant False GRIN2C@p.N73Kfs*24 1 0.147058824 ENSG00000161509 chr17:74854874-74854875;-/T frameshift_variant False GRIN2C@p.L1229V 1 0.285714286 ENSG00000161509 chr17:74842452-74842452;G/C missense_variant False GRIN2C@p.K719R 1 0.362068966 ENSG00000161509 chr17:74846766-74846766;T/C missense_variant False GRIN2C@p.H1167Y 1 0.333333333 ENSG00000161509 chr17:74842638-74842638;G/A missense_variant False GRIN2C@p.F680V 1 0.289786223 ENSG00000161509 chr17:74846884-74846884;A/C missense_variant False GRIN2B@p.R1092W 1 0.146341463 ENSG00000273079 chr12:13563964-13563964;G/A missense_variant False GRINA@p.E342K 1 0.2 ENSG00000178719 chr8:143992749-143992749;G/A missense_variant False GRIN2B@p.P1093L 1 0.523809524 ENSG00000273079 chr12:13563960-13563960;G/A missense_variant False GRIN2B@p.L911R 1 0.196132597 ENSG00000273079 chr12:13564506-13564506;A/C missense_variant False GRIN2B@p.L366F 1 0.125 ENSG00000273079 chr12:13675774-13675774;G/A missense_variant False GRIN2B@p.H1187Y 1 0.15 ENSG00000273079 chr12:13563679-13563679;G/A missense_variant False GRIN2B@p.E397Q 1 0.090909091 ENSG00000273079 chr12:13616594-13616594;C/G missense_variant False GRIN2B@p.D46N 1 0.147540984 ENSG00000273079 chr12:13866073-13866073;C/T missense_variant False GRIN2C@p.R305G 1 0.214285714 ENSG00000161509 chr17:74852098-74852098;G/C missense_variant False GRIN2C@p.S710L 1 0.293103448 ENSG00000161509 chr17:74846793-74846793;G/A missense_variant False GRIN2D@p.A533S 1 0.571428571 ENSG00000105464 chr19:48416017-48416017;G/T missense_variant False GRIN2D@p.E742Q 1 0.161290323 ENSG00000105464 chr19:48421917-48421917;G/C missense_variant False GRIN2D@p.M588I 1 0.441860465 ENSG00000105464 chr19:48419262-48419262;G/A missense_variant False GRIN2D@p.P342R 1 0.217391304 ENSG00000105464 chr19:48405293-48405293;C/G missense_variant False GRIN2D@p.P555H 1 0.150537634 ENSG00000105464 chr19:48416084-48416084;C/A missense_variant False GRIN2D@p.S1118L 1 0.325 ENSG00000105464 chr19:48443279-48443279;C/T missense_variant False GRIN2D@p.S375P 1 0.131578947 ENSG00000105464 chr19:48414028-48414028;T/C missense_variant False GRIN3A@p.A1096P 1 0.195652174 ENSG00000198785 chr9:101573236-101573236;C/G missense_variant False GRIN3A@p.D545H 1 0.221153846 ENSG00000198785 chr9:101670779-101670779;C/G missense_variant False GRIN3A@p.D555G 1 0.328767123 ENSG00000198785 chr9:101670748-101670748;T/C missense_variant False GRIN3A@p.K712Sfs*59 1 0.223880597 ENSG00000198785 chr9:101670276-101670277;TT/- frameshift_variant False GRIN3A@p.L216P 1 0.256830601 ENSG00000198785 chr9:101737333-101737333;A/G missense_variant False GRIN3B@p.L456V 1 0.172413793 ENSG00000116032 chr19:1004867-1004867;C/G missense_variant False GRIN3B@p.L846V 1 0.081632653 ENSG00000116032 chr19:1008687-1008687;C/G missense_variant False GRINA@p.A236V 1 0.11875 ENSG00000178719 chr8:143992258-143992258;C/T missense_variant False HAUS6@p.L813V 1 0.189189189 ENSG00000147874 chr9:19058330-19058330;G/C missense_variant False HAUS6@p.P806A 1 0.213483146 ENSG00000147874 chr9:19058351-19058351;G/C missense_variant False FOXR2@p.F309L 1 0.173913043 ENSG00000189299 chrX:55624638-55624638;T/G missense_variant False HKDC1@p.L765V 1 0.433962264 ENSG00000156510 chr10:69261215-69261215;C/G missense_variant False HLA-B@p.E43K 1 0.372881356 ENSG00000234745 chr6:31356904-31356904;C/T missense_variant False HLA-A@p.R7Efs*13 1 0.1 ENSG00000206503 chr6:29942569-29942569;C/- frameshift_variant False HLA-A@p.R205C 1 0.121495327 ENSG00000206503 chr6:29943537-29943537;C/T missense_variant False HLA-A@p.F60Lfs*17 1 0.170454545 ENSG00000206503 chr6:29942863-29942863;C/- frameshift_variant False HLA-A@p.C188Y 1 0.481481481 ENSG00000206503 chr6:29943487-29943487;G/A missense_variant False HKDC1@p.R472K 1 0.316455696 ENSG00000156510 chr10:69248573-69248573;G/A missense_variant False HKDC1@p.L512R 1 0.235294118 ENSG00000156510 chr10:69248693-69248693;T/G missense_variant False HLA-C@p.D63N 1 0.537313433 ENSG00000204525 chr6:31271755-31271755;C/T missense_variant False HKDC1@p.A135S 1 0.234375 ENSG00000156510 chr10:69233041-69233041;G/T missense_variant False HK3@p.S30L 1 0.37037037 ENSG00000160883 chr5:176896071-176896071;G/A missense_variant False HK3@p.E31K 1 0.240963855 ENSG00000160883 chr5:176896069-176896069;C/T missense_variant False HK3@p.E238Q 1 0.45 ENSG00000160883 chr5:176889663-176889663;C/G missense_variant False HK3@p.E119Q 1 0.14893617 ENSG00000160883 chr5:176891096-176891096;C/G missense_variant False HK3@p.D152H 1 0.144578313 ENSG00000160883 chr5:176890902-176890902;C/G missense_variant False HLA-B@p.Q279K 1 0.127659574 ENSG00000234745 chr6:31355377-31355377;G/T missense_variant False HLA-DMB@p.A73V 1 0.377952756 ENSG00000242574 chr6:32938803-32938803;G/A missense_variant False HMCN1@p.K2185N 1 0.342465753 ENSG00000143341 chr1:186048817-186048817;A/T missense_variant False HLA-DPB1@p.W88C 1 0.234693878 ENSG00000223865 chr6:33080835-33080835;G/T missense_variant False HLA-DQB1@p.E101D 1 0.726190476 ENSG00000179344 chr6:32664874-32664874;C/G missense_variant False HLA-DQA2@p.K173R 1 0.136986301 ENSG00000237541 chr6:32745977-32745977;A/G missense_variant False HLA-DQA2@p.E51K 1 0.228855721 ENSG00000237541 chr6:32745227-32745227;G/A missense_variant False HLA-DQA2@p.D184Y 1 0.044334975 ENSG00000237541 chr6:32746009-32746009;G/T missense_variant False HLA-DQA1@p.K173R 1 0.215053763 ENSG00000237541 chr6:32642158-32642158;A/G missense_variant False HLA-DQA1@p.D53H 1 0.091743119 ENSG00000237541 chr6:32641384-32641384;G/C missense_variant False HLA-DPA1@p.S250C 1 0.333333333 ENSG00000231389 chr6:33068684-33068684;G/C missense_variant False HLA-DMB@p.K151N 1 0.32 ENSG00000242574 chr6:32937341-32937341;C/G missense_variant False HLA-DPA1@p.R16I 1 0.441314554 ENSG00000231389 chr6:33073524-33073524;C/A missense_variant False HLA-DPA1@p.L206V 1 0.096491228 ENSG00000231389 chr6:33069031-33069031;G/C missense_variant False HLA-DPA1@p.L15F 1 0.336283186 ENSG00000231389 chr6:33073526-33073526;C/G missense_variant False HLA-DPA1@p.I137M 1 0.294117647 ENSG00000231389 chr6:33069236-33069236;G/C missense_variant False HLA-DOA@p.E55D 1 0.428571429 ENSG00000204252 chr6:33008179-33008179;T/A missense_variant False HLA-DMB@p.R89C 1 0.191919192 ENSG00000242574 chr6:32938756-32938756;G/A missense_variant False HK3@p.A842Gfs*89 1 0.393939394 ENSG00000160883 chr5:176881404-176881405;-/C frameshift_variant False HK2@p.Y9F 1 0.711864407 ENSG00000159399 chr2:74834606-74834606;A/T missense_variant False HK2@p.S603Y 1 0.188679245 ENSG00000159399 chr2:74882208-74882208;C/A missense_variant False HIVEP3@p.S1695F 1 0.517647059 ENSG00000127124 chr1:41575667-41575667;G/A missense_variant False HJURP@p.R576C 1 0.361702128 ENSG00000123485 chr2:233841054-233841054;G/A missense_variant False HJURP@p.E78K 1 0.238095238 ENSG00000123485 chr2:233852573-233852573;C/T missense_variant False HJURP@p.D702H 1 0.420289855 ENSG00000123485 chr2:233840676-233840676;C/G missense_variant False HJURP@p.D630N 1 0.202531646 ENSG00000123485 chr2:233840892-233840892;C/T missense_variant False HJURP@p.D339H 1 0.11627907 ENSG00000123485 chr2:233841765-233841765;C/G missense_variant False HIVEP3@p.S1992L 1 0.296943231 ENSG00000127124 chr1:41513246-41513246;G/A missense_variant False HIVEP3@p.S150F 1 0.15 ENSG00000127124 chr1:41584349-41584349;G/A missense_variant False HK2@p.S4W 1 0.253164557 ENSG00000159399 chr2:74834591-74834591;C/G missense_variant False HIVEP3@p.S1159P 1 0.421052632 ENSG00000127124 chr1:41581323-41581323;A/G missense_variant False HIVEP3@p.R2043T 1 0.185185185 ENSG00000127124 chr1:41513093-41513093;C/G missense_variant False HIVEP3@p.R1747Q 1 0.283018868 ENSG00000127124 chr1:41524878-41524878;C/T missense_variant False HIVEP3@p.R1389T 1 0.309734513 ENSG00000127124 chr1:41580632-41580632;C/G missense_variant False HIVEP3@p.P727S 1 0.589041096 ENSG00000127124 chr1:41582619-41582619;G/A missense_variant False HIVEP3@p.P1142T 1 0.296137339 ENSG00000127124 chr1:41581374-41581374;G/T missense_variant False HK1@p.D365N 1 0.393333333 ENSG00000156515 chr10:69379923-69379923;G/A missense_variant False HK1@p.D79N 1 0.379310345 ENSG00000156515 chr10:69359905-69359905;G/A missense_variant False HK1@p.E565K 1 0.270676692 ENSG00000156515 chr10:69384455-69384455;G/A missense_variant False HK1@p.G751S 1 0.612903226 ENSG00000156515 chr10:69394981-69394981;G/A missense_variant False HK1@p.H373Y 1 0.6328125 ENSG00000156515 chr10:69379947-69379947;C/T missense_variant False HK1@p.H631Q 1 0.164179104 ENSG00000156515 chr10:69386376-69386376;C/G missense_variant False HK1@p.L356V 1 0.673469388 ENSG00000156515 chr10:69379896-69379896;C/G missense_variant False HK1@p.M214I 1 0.188888889 ENSG00000156515 chr10:69369287-69369287;G/A missense_variant False HK1@p.M663I 1 0.142857143 ENSG00000156515 chr10:69389250-69389250;G/A missense_variant False HK1@p.R432* 1 0.380952381 ENSG00000156515 chr10:69382512-69382513;-/TT frameshift_variant False HK1@p.R539L 1 0.80952381 ENSG00000156515 chr10:69384378-69384378;G/T missense_variant False HK1@p.R53W 1 0.060240964 ENSG00000156515 chr10:69343920-69343920;C/T missense_variant False HK1@p.S424F 1 0.392156863 ENSG00000156515 chr10:69382492-69382492;C/T missense_variant False HK2@p.E343K 1 0.222222222 ENSG00000159399 chr2:74877317-74877317;G/A missense_variant False HK2@p.E742D 1 0.275362319 ENSG00000159399 chr2:74887909-74887909;G/T missense_variant False HK2@p.E774V 1 0.159663866 ENSG00000159399 chr2:74888004-74888004;A/T missense_variant False HK2@p.E810Q 1 0.160714286 ENSG00000159399 chr2:74889297-74889297;G/C missense_variant False HLA-DQB1@p.E101K 1 0.68 ENSG00000179344 chr6:32664876-32664876;C/T missense_variant False HLA-DQB1@p.I180Lfs*12 1 0.25 ENSG00000179344 chr6:32662093-32662093;G/- frameshift_variant False HLA-DRA@p.E71K 1 0.336363636 ENSG00000204287 chr6:32442576-32442576;G/A missense_variant False HMCN1@p.C4556Y 1 0.450704225 ENSG00000143341 chr1:186137582-186137582;G/A missense_variant False HMCN1@p.D4193N 1 0.145631068 ENSG00000143341 chr1:186125681-186125681;G/A missense_variant False HMCN1@p.D3749Y 1 0.506493506 ENSG00000143341 chr1:186114092-186114092;G/T missense_variant False HMCN1@p.D3686N 1 0.21875 ENSG00000143341 chr1:186112878-186112878;G/A missense_variant False HMCN1@p.D3347H 1 0.510948905 ENSG00000143341 chr1:186093512-186093512;G/C missense_variant False HMCN1@p.D2995H 1 0.325 ENSG00000143341 chr1:186086344-186086344;G/C missense_variant False HMCN1@p.D1505H 1 0.166666667 ENSG00000143341 chr1:186007165-186007165;G/C missense_variant False HMCES@p.T263S 1 0.147410359 ENSG00000183624 chr3:129302102-129302102;C/G missense_variant False HMBOX1@p.E150K 1 0.31372549 ENSG00000147421 chr8:28970467-28970467;G/A missense_variant False HMCES@p.Q285H 1 0.178010471 ENSG00000183624 chr3:129304615-129304615;G/C missense_variant False HMCES@p.E308Q 1 0.195402299 ENSG00000183624 chr3:129304682-129304682;G/C missense_variant False HMCES@p.D36H 1 0.47826087 ENSG00000183624 chr3:129279838-129279838;G/C missense_variant False HMCES@p.A19T 1 0.118644068 ENSG00000183624 chr3:129279787-129279787;G/A missense_variant False HMBOX1@p.Y147H 1 0.109090909 ENSG00000147421 chr8:28970458-28970458;T/C missense_variant False HMBOX1@p.R32Q 1 0.455445545 ENSG00000147421 chr8:28970114-28970114;G/A missense_variant False HMCN1@p.D485H 1 0.285714286 ENSG00000143341 chr1:185928568-185928568;G/C missense_variant False HMCN1@p.D5067N 1 0.130434783 ENSG00000143341 chr1:186153930-186153930;G/A missense_variant False HMCN1@p.D559H 1 0.303797468 ENSG00000143341 chr1:185933671-185933671;G/C missense_variant False HMCN1@p.E106K 1 0.481481481 ENSG00000143341 chr1:185846073-185846073;G/A missense_variant False HMCN1@p.E1335D 1 0.208333333 ENSG00000143341 chr1:186000175-186000175;G/C missense_variant False HMCN1@p.E4466Q 1 0.23853211 ENSG00000143341 chr1:186136751-186136751;G/C missense_variant False HMCN1@p.E5424K 1 0.448717949 ENSG00000143341 chr1:186178742-186178742;G/A missense_variant False HMCN1@p.E5445K 1 0.318181818 ENSG00000143341 chr1:186182206-186182206;G/A missense_variant False HMCN1@p.E761K 1 0.112359551 ENSG00000143341 chr1:185970403-185970403;G/A missense_variant False HMCN1@p.F651L 1 0.258928571 ENSG00000143341 chr1:185962640-185962640;T/C missense_variant False HMCN1@p.G1304D 1 0.416666667 ENSG00000143341 chr1:186000081-186000081;G/A missense_variant False HMCN1@p.G1801D 1 0.4 ENSG00000143341 chr1:186018284-186018284;G/A missense_variant False HMCN1@p.G2222C 1 0.2 ENSG00000143341 chr1:186053038-186053038;G/T missense_variant False HMCN1@p.G3513E 1 0.118811881 ENSG00000143341 chr1:186095486-186095486;G/A missense_variant False HMCN1@p.G4194A 1 0.266666667 ENSG00000143341 chr1:186125685-186125685;G/C missense_variant False HMCN1@p.G4644R 1 0.220930233 ENSG00000143341 chr1:186144178-186144178;G/A missense_variant False HMCN1@p.I543M 1 0.107526882 ENSG00000143341 chr1:185933625-185933625;C/G missense_variant False HMBOX1@p.N302K 1 0.519379845 ENSG00000147421 chr8:29045415-29045415;C/G missense_variant False HLX@p.S219L 1 0.242038217 ENSG00000136630 chr1:220881257-220881257;C/T missense_variant False HLA-DRA@p.S44L 1 0.193181818 ENSG00000204287 chr6:32442496-32442496;C/T missense_variant False HLA-F@p.E184K 1 0.2 ENSG00000204642 chr6:29724388-29724388;G/A missense_variant False HLA-G@p.E43Q 1 0.254901961 ENSG00000204632 chr6:29828100-29828100;G/C missense_variant False HLA-G@p.E138K 1 0.214285714 ENSG00000204632 chr6:29828611-29828611;G/A missense_variant False HLA-G@p.D262Y 1 0.116504854 ENSG00000204632 chr6:29829582-29829582;G/T missense_variant False HLA-F@p.W329C 1 0.528455285 ENSG00000204642 chr6:29725547-29725547;G/C missense_variant False HLA-F@p.S113C 1 0.26744186 ENSG00000204642 chr6:29724176-29724176;C/G missense_variant False HLA-F@p.G273A 1 0.273972603 ENSG00000204642 chr6:29725238-29725238;G/C missense_variant False HLA-E@p.S11L 1 0.189781022 ENSG00000204592 chr6:30489563-30489563;C/T missense_variant False HLX@p.P8S 1 0.294117647 ENSG00000136630 chr1:220879879-220879879;C/T missense_variant False HLA-E@p.L7F 1 0.228723404 ENSG00000204592 chr6:30489550-30489550;C/T missense_variant False HLA-E@p.I163M 1 0.139534884 ENSG00000204592 chr6:30490394-30490394;C/G missense_variant False HLA-E@p.D183N 1 0.296875 ENSG00000204592 chr6:30490452-30490452;G/A missense_variant False HLA-E@p.A298T 1 0.905660377 ENSG00000204592 chr6:30491542-30491542;G/A missense_variant False HLA-E@p.A232V 1 0.284313725 ENSG00000204592 chr6:30491221-30491221;C/T missense_variant False HLA-DRA@p.W24R 1 0.448979592 ENSG00000204287 chr6:32440020-32440020;T/C missense_variant False HLA-G@p.R280T 1 0.050632911 ENSG00000204632 chr6:29829637-29829637;G/C missense_variant False HLCS@p.C600Y 1 0.455882353 ENSG00000159267 chr21:36756752-36756752;C/T missense_variant False HLCS@p.G711D 1 0.096774194 ENSG00000159267 chr21:36754295-36754295;C/T missense_variant False HLCS@p.I225V 1 0.419354839 ENSG00000159267 chr21:36936772-36936772;T/C missense_variant False HLCS@p.K579N 1 0.302816901 ENSG00000159267 chr21:36759785-36759785;C/G missense_variant False HLCS@p.L676V 1 0.220588235 ENSG00000159267 chr21:36754401-36754401;G/C missense_variant False HLCS@p.R639T 1 0.274193548 ENSG00000159267 chr21:36756635-36756635;C/G missense_variant False HLCS@p.R63I 1 0.338709677 ENSG00000159267 chr21:36937257-36937257;C/A missense_variant False HLCS@p.S224C 1 0.267175573 ENSG00000159267 chr21:36936774-36936774;G/C missense_variant False HLCS@p.T478M 1 0.283333333 ENSG00000159267 chr21:36896878-36896878;G/A missense_variant False HLF@p.Q145H 1 0.352941176 ENSG00000108924 chr17:55268070-55268070;G/C missense_variant False HLF@p.R196H 1 0.2 ENSG00000108924 chr17:55315362-55315362;G/A missense_variant False HLF@p.S100I 1 0.147368421 ENSG00000108924 chr17:55267934-55267934;G/T missense_variant False HLTF@p.E806K 1 0.227272727 ENSG00000071794 chr3:149040117-149040117;C/T missense_variant False HLTF@p.I481M 1 0.131313131 ENSG00000071794 chr3:149055333-149055333;G/C missense_variant False HLTF@p.S447F 1 0.213592233 ENSG00000071794 chr3:149059753-149059753;G/A missense_variant False HLX@p.E375K 1 0.5 ENSG00000136630 chr1:220884360-220884360;G/A missense_variant False HIVEP3@p.I1341S 1 0.510416667 ENSG00000127124 chr1:41580776-41580776;A/C missense_variant False HIVEP3@p.G1750S 1 0.327272727 ENSG00000127124 chr1:41524870-41524870;C/T missense_variant False HIVEP3@p.G1065V 1 0.170940171 ENSG00000127124 chr1:41581604-41581604;C/A missense_variant False HIP1R@p.G880D 1 0.35443038 ENSG00000130787 chr12:122860502-122860502;G/A missense_variant False HIPK1@p.D941Y 1 0.085526316 ENSG00000163349 chr1:113970005-113970005;G/T missense_variant False HIPK1@p.A679T 1 0.254237288 ENSG00000163349 chr1:113962370-113962370;G/A missense_variant False HIP1R@p.V458A 1 0.166666667 ENSG00000130787 chr12:122856316-122856316;T/C missense_variant False HIP1R@p.S876C 1 0.1 ENSG00000130787 chr12:122860490-122860490;C/G missense_variant False HIP1R@p.R113L 1 0.808510638 ENSG00000130787 chr12:122848833-122848833;G/T missense_variant False HIP1R@p.Q608E 1 0.115384615 ENSG00000130787 chr12:122858108-122858108;C/G missense_variant False HIP1R@p.A951Pfs*26 1 0.452380952 ENSG00000130787 chr12:122860999-122860999;G/- frameshift_variant False HIP1@p.A680V 1 0.160714286 ENSG00000127946 chr7:75554451-75554451;G/A missense_variant False HIP1R@p.A71V 1 0.252873563 ENSG00000130787 chr12:122848520-122848520;C/T missense_variant False HIP1@p.T215R 1 0.044776119 ENSG00000127946 chr7:75573862-75573862;G/C missense_variant False HIP1@p.R382T 1 0.355263158 ENSG00000127946 chr7:75561375-75561375;C/G missense_variant False HIP1@p.Q365E 1 0.088495575 ENSG00000127946 chr7:75562098-75562098;G/C missense_variant False HIP1@p.L243I 1 0.68627451 ENSG00000127946 chr7:75573779-75573779;G/T missense_variant False HIP1@p.E818Q 1 0.183050847 ENSG00000127946 chr7:75547768-75547768;C/G missense_variant False HIPK1@p.H1104Y 1 0.098814229 ENSG00000163349 chr1:113973189-113973189;C/T missense_variant False HIPK1@p.K41N 1 0.306306306 ENSG00000163349 chr1:113940506-113940506;A/T missense_variant False HIPK1@p.L861M 1 0.139344262 ENSG00000163349 chr1:113968458-113968458;C/A missense_variant False HIPK1@p.Q259K 1 0.24742268 ENSG00000163349 chr1:113941158-113941158;C/A missense_variant False HIPK1@p.Q741R 1 0.169230769 ENSG00000163349 chr1:113963505-113963505;A/G missense_variant False HIPK1@p.T164I 1 0.40952381 ENSG00000163349 chr1:113940874-113940874;C/T missense_variant False HIPK2@p.E455K 1 0.1875 ENSG00000064393 chr7:139629024-139629024;C/T missense_variant False HIPK2@p.G1184A 1 0.142857143 ENSG00000064393 chr7:139572973-139572973;C/G missense_variant False HIPK2@p.P1137A 1 0.5 ENSG00000064393 chr7:139573115-139573115;G/C missense_variant False HIPK2@p.Q643H 1 0.288461538 ENSG00000064393 chr7:139614347-139614347;C/G missense_variant False HIPK2@p.S180C 1 0.436708861 ENSG00000064393 chr7:139716497-139716497;T/A missense_variant False HIPK2@p.S634N 1 0.222222222 ENSG00000064393 chr7:139614375-139614375;C/T missense_variant False HIPK3@p.H103Y 1 0.487179487 ENSG00000110422 chr11:33286721-33286721;C/T missense_variant False HIPK3@p.K25T 1 0.146341463 ENSG00000110422 chr11:33286488-33286488;A/C missense_variant False HIPK3@p.K428R 1 0.203703704 ENSG00000110422 chr11:33337136-33337136;A/G missense_variant False HIPK3@p.L1053F 1 0.320754717 ENSG00000110422 chr11:33352253-33352253;G/C missense_variant False HIPK3@p.L531V 1 0.194029851 ENSG00000110422 chr11:33339512-33339512;C/G missense_variant False HIP1@p.E731K 1 0.244897959 ENSG00000127946 chr7:75553557-75553557;C/T missense_variant False HINFP@p.S484C 1 0.275862069 ENSG00000172273 chr11:119134395-119134395;C/G missense_variant False HIPK3@p.P1174S 1 0.216666667 ENSG00000110422 chr11:33353440-33353440;C/T missense_variant False HIC2@p.E462K 1 0.53968254 ENSG00000169635 chr22:21446279-21446279;G/A missense_variant False HIF1A@p.G179V 1 0.404255319 ENSG00000100644 chr14:61726784-61726784;G/T missense_variant False HID1@p.M698I 1 0.339622642 ENSG00000167861 chr17:74952319-74952319;C/T missense_variant False HID1@p.F404L 1 0.325581395 ENSG00000167861 chr17:74958701-74958701;G/C missense_variant False HID1@p.F35L 1 0.166666667 ENSG00000167861 chr17:74964594-74964594;G/C missense_variant False HIC2@p.S317G 1 0.24137931 ENSG00000169635 chr22:21445844-21445844;A/G missense_variant False HIC2@p.G585C 1 0.361111111 ENSG00000169635 chr22:21446648-21446648;G/T missense_variant False HIC2@p.E244Q 1 0.59375 ENSG00000169635 chr22:21445625-21445625;G/C missense_variant False HINFP@p.S374L 1 0.103448276 ENSG00000172273 chr11:119133201-119133201;C/T missense_variant False HHLA2@p.M263I 1 0.195488722 ENSG00000114455 chr3:108357947-108357947;G/T missense_variant False HHLA2@p.E323Q 1 0.274509804 ENSG00000114455 chr3:108358125-108358125;G/C missense_variant False HHLA2@p.D311E 1 0.191489362 ENSG00000114455 chr3:108358091-108358091;C/A missense_variant False HHIPL2@p.S647F 1 0.126315789 ENSG00000143512 chr1:222522836-222522836;G/A missense_variant False HHIPL2@p.S601L 1 0.434782609 ENSG00000143512 chr1:222526972-222526972;G/A missense_variant False HHIPL2@p.S405Y 1 0.698412698 ENSG00000143512 chr1:222540246-222540246;G/T missense_variant False HIF1A@p.Q497H 1 0.372 ENSG00000100644 chr14:61738328-61738328;G/C missense_variant False HIF1A@p.R68P 1 0.115789474 ENSG00000100644 chr14:61720549-61720549;G/C missense_variant False HIF1AN@p.F295L 1 0.431034483 ENSG00000166135 chr10:100546572-100546572;C/G missense_variant False HIF1AN@p.Q209H 1 0.169491525 ENSG00000166135 chr10:100545000-100545000;G/C missense_variant False HIF3A@p.D267N 1 0.312267658 ENSG00000124440 chr19:46312189-46312189;G/A missense_variant False HIF3A@p.E224K 1 0.205882353 ENSG00000124440 chr19:46309259-46309259;G/A missense_variant False HIF3A@p.E32K 1 0.238095238 ENSG00000124440 chr19:46303965-46303965;G/A missense_variant False HIF3A@p.G378A 1 0.391304348 ENSG00000124440 chr19:46320550-46320550;G/C missense_variant False HIF3A@p.P431A 1 0.097560976 ENSG00000124440 chr19:46321922-46321922;C/G missense_variant False HIF3A@p.R523H 1 0.109489051 ENSG00000124440 chr19:46329334-46329334;G/A missense_variant False HIGD1C@p.D25E 1 0.103092784 ENSG00000214511 chr12:50954073-50954073;C/A missense_variant False HIGD2A@p.P32S 1 0.197802198 ENSG00000146066 chr5:176388913-176388913;C/T missense_variant False HIKESHI@p.E20K 1 0.169491525 ENSG00000149196 chr11:86306272-86306272;G/A missense_variant False HIKESHI@p.S107C 1 0.152941176 ENSG00000149196 chr11:86337430-86337430;C/G missense_variant False HINFP@p.E241Q 1 0.466165414 ENSG00000172273 chr11:119132540-119132540;G/C missense_variant False HINFP@p.I501M 1 0.102564103 ENSG00000172273 chr11:119134447-119134447;C/G missense_variant False HINFP@p.R9Q 1 0.623376623 ENSG00000172273 chr11:119126970-119126970;G/A missense_variant False HIPK3@p.M527V 1 0.211382114 ENSG00000110422 chr11:33339500-33339500;A/G missense_variant False HIPK3@p.S926F 1 0.416666667 ENSG00000110422 chr11:33349257-33349257;C/T missense_variant False HIVEP3@p.E807K 1 0.226415094 ENSG00000127124 chr1:41582379-41582379;C/T missense_variant False HIVEP2@p.E408K 1 0.107142857 ENSG00000010818 chr6:142773517-142773517;C/T missense_variant False HIVEP2@p.G1284R 1 0.502512563 ENSG00000010818 chr6:142770889-142770889;C/G missense_variant False HIVEP2@p.F224L 1 0.241071429 ENSG00000010818 chr6:142774067-142774067;G/C missense_variant False HIVEP2@p.E890K 1 0.083333333 ENSG00000010818 chr6:142772071-142772071;C/T missense_variant False HIVEP2@p.E849Q 1 0.229508197 ENSG00000010818 chr6:142772194-142772194;C/G missense_variant False HIVEP2@p.E707Q 1 0.085365854 ENSG00000010818 chr6:142772620-142772620;C/G missense_variant False HIVEP2@p.E422K 1 0.313131313 ENSG00000010818 chr6:142773475-142773475;C/T missense_variant False HIVEP2@p.E317K 1 0.411764706 ENSG00000010818 chr6:142773790-142773790;C/T missense_variant False HIVEP2@p.D1525H 1 0.170731707 ENSG00000010818 chr6:142770166-142770166;C/G missense_variant False HIVEP2@p.E1901K 1 0.25 ENSG00000010818 chr6:142760587-142760587;C/T missense_variant False HIVEP2@p.E175K 1 0.3125 ENSG00000010818 chr6:142774216-142774216;C/T missense_variant False HIVEP2@p.E174K 1 0.204081633 ENSG00000010818 chr6:142774219-142774219;C/T missense_variant False HIVEP2@p.E1596Q 1 0.291044776 ENSG00000010818 chr6:142769953-142769953;C/G missense_variant False HIVEP2@p.E1371Q 1 0.144329897 ENSG00000010818 chr6:142770628-142770628;C/G missense_variant False HIVEP2@p.E136K 1 0.540372671 ENSG00000010818 chr6:142774333-142774333;C/T missense_variant False HIVEP2@p.K1291N 1 0.158415842 ENSG00000010818 chr6:142770866-142770866;C/G missense_variant False HIVEP2@p.K701N 1 0.196850394 ENSG00000010818 chr6:142772636-142772636;C/G missense_variant False HIVEP2@p.Q1024H 1 0.162162162 ENSG00000010818 chr6:142771667-142771667;C/G missense_variant False HIVEP2@p.R1796Q 1 0.394160584 ENSG00000010818 chr6:142764930-142764930;C/T missense_variant False HIVEP2@p.S1166F 1 0.145833333 ENSG00000010818 chr6:142771242-142771242;G/A missense_variant False HIVEP2@p.S1967L 1 0.428571429 ENSG00000010818 chr6:142760388-142760388;G/A missense_variant False HIVEP2@p.S384L 1 0.177777778 ENSG00000010818 chr6:142773588-142773588;G/A missense_variant False HIVEP2@p.S476L 1 0.178947368 ENSG00000010818 chr6:142773312-142773312;G/A missense_variant False HIVEP2@p.S779L 1 0.166666667 ENSG00000010818 chr6:142772403-142772403;G/A missense_variant False HIVEP3@p.A1703P 1 0.192982456 ENSG00000127124 chr1:41575644-41575644;C/G missense_variant False HIVEP3@p.E1119K 1 0.340909091 ENSG00000127124 chr1:41581443-41581443;C/T missense_variant False HIVEP3@p.E14K 1 0.458598726 ENSG00000127124 chr1:41584758-41584758;C/T missense_variant False HIVEP3@p.E1575Q 1 0.252631579 ENSG00000127124 chr1:41580075-41580075;C/G missense_variant False HIVEP3@p.E1710Q 1 0.253164557 ENSG00000127124 chr1:41575623-41575623;C/G missense_variant False HIVEP3@p.E2248K 1 0.424242424 ENSG00000127124 chr1:41510930-41510930;C/T missense_variant False HIVEP3@p.E519Q 1 0.279187817 ENSG00000127124 chr1:41583243-41583243;C/G missense_variant False HIVEP3@p.E604Q 1 0.337837838 ENSG00000127124 chr1:41582988-41582988;C/G missense_variant False HIVEP2@p.D1591N 1 0.307692308 ENSG00000010818 chr6:142769968-142769968;C/T missense_variant False HIVEP2@p.D1052H 1 0.583333333 ENSG00000010818 chr6:142771585-142771585;C/G missense_variant False HIPK3@p.T1091A 1 0.209677419 ENSG00000110422 chr11:33353191-33353191;A/G missense_variant False HIRA@p.N68S 1 0.244444444 ENSG00000100084 chr22:19408491-19408491;T/C missense_variant False HIRIP3@p.E421K 1 0.266666667 ENSG00000149929 chr16:29993787-29993787;C/T missense_variant False HIRIP3@p.E373K 1 0.144578313 ENSG00000149929 chr16:29994028-29994028;C/T missense_variant False HIRIP3@p.D71H 1 0.160377358 ENSG00000149929 chr16:29995193-29995193;C/G missense_variant False HIRIP3@p.D364N 1 0.274193548 ENSG00000149929 chr16:29994055-29994055;C/T missense_variant False HIRA@p.S972I 1 0.048611111 ENSG00000100084 chr22:19351380-19351380;C/A missense_variant False HIRA@p.S18L 1 0.193548387 ENSG00000100084 chr22:19410763-19410763;G/A missense_variant False HIRA@p.E634Q 1 0.275510204 ENSG00000100084 chr22:19361807-19361807;C/G missense_variant False HIVEP2@p.A2365T 1 0.075 ENSG00000010818 chr6:142753355-142753355;C/T missense_variant False HIRA@p.A581S 1 0.346938776 ENSG00000100084 chr22:19375665-19375665;C/A missense_variant False HIPK4@p.S532F 1 0.092105263 ENSG00000160396 chr19:40380396-40380396;G/A missense_variant False HIPK4@p.S365L 1 0.133333333 ENSG00000160396 chr19:40380897-40380897;G/A missense_variant False HIPK4@p.E69Q 1 0.044117647 ENSG00000160396 chr19:40389698-40389698;C/G missense_variant False HIPK4@p.D388Y 1 0.51 ENSG00000160396 chr19:40380829-40380829;C/A missense_variant False HIPK4@p.A125T 1 0.159722222 ENSG00000160396 chr19:40389530-40389530;C/T missense_variant False HIRIP3@p.E489K 1 0.044444444 ENSG00000149929 chr16:29993501-29993501;C/T missense_variant False HIRIP3@p.R504Q 1 0.149606299 ENSG00000149929 chr16:29993367-29993367;C/T missense_variant False HIVEP1@p.C982S 1 0.325 ENSG00000095951 chr6:12122739-12122739;T/A missense_variant False HIVEP1@p.D1389N 1 0.480263158 ENSG00000095951 chr6:12123960-12123960;G/A missense_variant False HIVEP1@p.D1967N 1 0.242857143 ENSG00000095951 chr6:12125694-12125694;G/A missense_variant False HIVEP1@p.D2051H 1 0.166666667 ENSG00000095951 chr6:12129834-12129834;G/C missense_variant False HIVEP1@p.G1221E 1 0.270833333 ENSG00000095951 chr6:12123457-12123457;G/A missense_variant False HIVEP1@p.G2439S 1 0.266666667 ENSG00000095951 chr6:12163619-12163619;G/A missense_variant False HIVEP1@p.L1989F 1 0.561643836 ENSG00000095951 chr6:12125760-12125760;C/T missense_variant False HIVEP1@p.M994I 1 0.033707865 ENSG00000095951 chr6:12122777-12122777;G/A missense_variant False HIVEP1@p.N1355S 1 0.185714286 ENSG00000095951 chr6:12123859-12123859;A/G missense_variant False HIVEP1@p.N2188K 1 0.415384615 ENSG00000095951 chr6:12161515-12161515;T/A missense_variant False HIVEP1@p.Q2301E 1 0.090909091 ENSG00000095951 chr6:12161852-12161852;C/G missense_variant False HIVEP1@p.S1741L 1 0.227272727 ENSG00000095951 chr6:12125017-12125017;C/T missense_variant False HIVEP1@p.S918C 1 0.239130435 ENSG00000095951 chr6:12122548-12122548;C/G missense_variant False HIVEP1@p.T1501P 1 0.408450704 ENSG00000095951 chr6:12124296-12124296;A/C missense_variant False HIVEP1@p.T1881A 1 0.227272727 ENSG00000095951 chr6:12125436-12125436;A/G missense_variant False HMCN1@p.K1782N 1 0.25 ENSG00000143341 chr1:186018228-186018228;G/C missense_variant False HMCN1@p.K75E 1 0.373333333 ENSG00000143341 chr1:185735002-185735002;A/G missense_variant False HHIPL2@p.L457F 1 0.156716418 ENSG00000143512 chr1:222540089-222540089;C/G missense_variant False HNRNPUL1@p.T235R 1 0.077669903 ENSG00000105323 chr19:41276216-41276216;C/G missense_variant False HNRNPUL2@p.E344Q 1 0.214285714 ENSG00000214753 chr11:62722666-62722666;C/G missense_variant False HNRNPUL2@p.E158Q 1 0.30952381 ENSG00000214753 chr11:62726685-62726685;C/G missense_variant False HNRNPUL2@p.D249H 1 0.365517241 ENSG00000214753 chr11:62723920-62723920;C/G missense_variant False HNRNPUL2@p.D242Y 1 0.403669725 ENSG00000214753 chr11:62723941-62723941;C/A missense_variant False HNRNPUL2@p.D182N 1 0.283783784 ENSG00000214753 chr11:62724421-62724421;C/T missense_variant False HNRNPUL1@p.T75I 1 0.454545455 ENSG00000105323 chr19:41264727-41264727;C/T missense_variant False HNRNPUL1@p.R685K 1 0.292134831 ENSG00000105323 chr19:41304053-41304053;G/A missense_variant False HNRNPUL2@p.E566K 1 0.07518797 ENSG00000214753 chr11:62720107-62720107;C/T missense_variant False HNRNPUL1@p.R497C 1 0.685185185 ENSG00000105323 chr19:41294657-41294657;C/T missense_variant False HNRNPUL1@p.R23G 1 0.214285714 ENSG00000105323 chr19:41264570-41264570;C/G missense_variant False HNRNPUL1@p.R171L 1 0.232375979 ENSG00000105323 chr19:41272175-41272175;G/T missense_variant False HNRNPUL1@p.K731N 1 0.245614035 ENSG00000105323 chr19:41304192-41304192;G/C missense_variant False HNRNPUL1@p.G251R 1 0.161616162 ENSG00000105323 chr19:41276263-41276263;G/A missense_variant False HNRNPUL1@p.E53Q 1 0.3 ENSG00000105323 chr19:41264660-41264660;G/C missense_variant False HNRNPUL2@p.E411Q 1 0.410526316 ENSG00000214753 chr11:62722245-62722245;C/G missense_variant False HOATZ@p.E105Q 1 0.11627907 ENSG00000183644 chr11:111516084-111516084;G/C missense_variant False HMCN1@p.L16V 1 0.49787234 ENSG00000143341 chr1:185734825-185734825;C/G missense_variant False HOMEZ@p.D432H 1 0.666666667 ENSG00000290292 chr14:23275934-23275934;C/G missense_variant False HOOK1@p.E110K 1 0.488888889 ENSG00000134709 chr1:59833459-59833459;G/A missense_variant False HOMEZ@p.S140Y 1 0.273972603 ENSG00000290292 chr14:23276809-23276809;G/T missense_variant False HOMEZ@p.S140C 1 0.592964824 ENSG00000290292 chr14:23276809-23276809;G/C missense_variant False HOMEZ@p.P80T 1 0.307692308 ENSG00000290292 chr14:23276990-23276990;G/T missense_variant False HOMEZ@p.L445F 1 0.523809524 ENSG00000290292 chr14:23275893-23275893;C/G missense_variant False HOMEZ@p.L172V 1 0.227642276 ENSG00000290292 chr14:23276714-23276714;G/C missense_variant False HOMEZ@p.D406N 1 0.24 ENSG00000290292 chr14:23276012-23276012;C/T missense_variant False HOGA1@p.G55W 1 0.413461538 ENSG00000241935 chr10:97584866-97584866;G/T missense_variant False HOMER3@p.I59M 1 0.214285714 ENSG00000051128 chr19:18938479-18938479;G/C missense_variant False HOMER2@p.D339N 1 0.363636364 ENSG00000103942 chr15:82849765-82849765;C/T missense_variant False HOMER1@p.S117L 1 0.191489362 ENSG00000152413 chr5:79447090-79447090;G/A missense_variant False HOMER1@p.K120N 1 0.4375 ENSG00000152413 chr5:79447080-79447080;C/G missense_variant False HOMER1@p.E273D 1 0.24137931 ENSG00000152413 chr5:79396880-79396880;T/G missense_variant False HOMER1@p.A348T 1 0.191176471 ENSG00000152413 chr5:79376032-79376032;C/T missense_variant False HNRNPU@p.W730C 1 0.236363636 ENSG00000153187 chr1:244854495-244854495;C/G missense_variant False HNRNPU@p.R698T 1 0.368965517 ENSG00000153187 chr1:244855440-244855440;C/G missense_variant False HNRNPU@p.P548R 1 0.137142857 ENSG00000153187 chr1:244856483-244856483;G/C missense_variant False HNRNPH1@p.E125D 1 0.405405405 ENSG00000169045 chr5:179620914-179620914;T/G missense_variant False HNRNPH3@p.D210N 1 0.361111111 ENSG00000096746 chr10:68339544-68339544;G/A missense_variant False HNRNPH2@p.M231I 1 0.254901961 ENSG00000126945 chrX:101412681-101412681;G/A missense_variant False HNRNPH2@p.F147I 1 0.102040816 ENSG00000126945 chrX:101412427-101412427;T/A missense_variant False HNRNPH1@p.S88L 1 0.104651163 ENSG00000169045 chr5:179621026-179621026;G/A missense_variant False HNRNPH1@p.F360del 1 0.145833333 ENSG00000169045 chr5:179617086-179617088;AAG/- inframe_deletion False HNRNPH1@p.E302K 1 0.265306122 ENSG00000169045 chr5:179617816-179617816;C/T missense_variant False HNRNPH1@p.D25N 1 0.228571429 ENSG00000169045 chr5:179623061-179623061;C/T missense_variant False HNRNPU@p.N7S 1 0.229166667 ENSG00000153187 chr1:244864288-244864288;T/C missense_variant False HNRNPF@p.Q158E 1 0.079365079 ENSG00000169813 chr10:43387413-43387413;G/C missense_variant False HNRNPF@p.E56Q 1 0.394736842 ENSG00000169813 chr10:43387719-43387719;C/G missense_variant False HNRNPF@p.D33N 1 0.188118812 ENSG00000169813 chr10:43387788-43387788;C/T missense_variant False HNRNPDL@p.V287E 1 0.070588235 ENSG00000152795 chr4:82427479-82427479;A/T missense_variant False HNRNPDL@p.R332Q 1 0.277966102 ENSG00000152795 chr4:82427216-82427216;C/T missense_variant False HNRNPDL@p.G375S 1 0.230215827 ENSG00000152795 chr4:82426532-82426532;C/T missense_variant False HNRNPH3@p.S189L 1 0.3 ENSG00000096746 chr10:68339482-68339482;C/T missense_variant False HNRNPH3@p.S275C 1 0.072463768 ENSG00000096746 chr10:68341633-68341633;C/G missense_variant False HNRNPK@p.D262H 1 0.173913043 ENSG00000165119 chr9:83972051-83972051;C/G missense_variant False HNRNPK@p.I178M 1 0.18487395 ENSG00000165119 chr9:83972955-83972955;G/C missense_variant False HNRNPK@p.L194V 1 0.085714286 ENSG00000165119 chr9:83972909-83972909;G/C missense_variant False HNRNPK@p.R249C 1 0.475 ENSG00000165119 chr9:83972090-83972090;G/A missense_variant False HNRNPK@p.R258T 1 0.096385542 ENSG00000165119 chr9:83972062-83972062;C/G missense_variant False HNRNPK@p.S355L 1 0.361344538 ENSG00000165119 chr9:83971301-83971301;G/A missense_variant False HNRNPL@p.D522N 1 0.3 ENSG00000104824 chr19:38837645-38837645;C/T missense_variant False HNRNPL@p.K455R 1 0.151162791 ENSG00000104824 chr19:38838590-38838590;T/C missense_variant False HNRNPM@p.E700Q 1 0.4 ENSG00000099783 chr19:8488759-8488759;G/C missense_variant False HNRNPR@p.E230K 1 0.464788732 ENSG00000125944 chr1:23321651-23321651;C/T missense_variant False HNRNPR@p.T21A 1 0.439252336 ENSG00000125944 chr1:23340948-23340948;T/C missense_variant False HNRNPU@p.E549Q 1 0.298850575 ENSG00000153187 chr1:244856481-244856481;C/G missense_variant False HNRNPU@p.E599Q 1 0.150862069 ENSG00000153187 chr1:244856033-244856033;C/G missense_variant False HNRNPU@p.G114R 1 0.173913043 ENSG00000153187 chr1:244863968-244863968;C/T missense_variant False HNRNPU@p.N558I 1 0.274193548 ENSG00000153187 chr1:244856155-244856155;T/A missense_variant False HOOK1@p.E277K 1 0.106666667 ENSG00000134709 chr1:59847085-59847085;G/A missense_variant False HOOK1@p.L257S 1 0.230769231 ENSG00000134709 chr1:59843580-59843580;T/C missense_variant False HOOK2@p.A666V 1 0.415349887 ENSG00000095066 chr19:12763541-12763541;G/A missense_variant False HOXA6@p.S91L 1 0.245901639 ENSG00000106006 chr7:27147478-27147478;G/A missense_variant False HOXA7@p.S68F 1 0.198113208 ENSG00000122592 chr7:27156343-27156343;G/A missense_variant False HOXA7@p.S49L 1 0.397515528 ENSG00000122592 chr7:27156400-27156400;G/A missense_variant False HOXA7@p.N58Y 1 0.264705882 ENSG00000122592 chr7:27156374-27156374;T/A missense_variant False HOXA7@p.E192K 1 0.352941176 ENSG00000122592 chr7:27155028-27155028;C/T missense_variant False HOXA7@p.E106K 1 0.4375 ENSG00000122592 chr7:27156230-27156230;C/T missense_variant False HOXA7@p.C29S 1 0.224 ENSG00000122592 chr7:27156460-27156460;C/G missense_variant False HOXA6@p.R183H 1 0.087431694 ENSG00000106006 chr7:27145812-27145812;C/T missense_variant False HOXA3@p.Q129K 1 0.611111111 ENSG00000105997 chr7:27110256-27110256;G/T missense_variant False HOXA6@p.R159H 1 0.325757576 ENSG00000106006 chr7:27145884-27145884;C/T missense_variant False HOXA6@p.Q96H 1 0.314606742 ENSG00000106006 chr7:27147462-27147462;C/G missense_variant False HOXA6@p.F21L 1 0.462686567 ENSG00000106006 chr7:27147687-27147687;G/T missense_variant False HOXA5@p.S59W 1 0.181818182 ENSG00000106004 chr7:27143432-27143432;G/C missense_variant False HOXA5@p.E165K 1 0.304878049 ENSG00000106004 chr7:27143115-27143115;C/T missense_variant False HOXA5@p.E150K 1 0.365079365 ENSG00000106004 chr7:27143160-27143160;C/T missense_variant False HOXA9@p.E172K 1 0.205128205 ENSG00000078399 chr7:27164944-27164944;C/T missense_variant False HOXA9@p.R204P 1 0.08045977 ENSG00000078399 chr7:27163811-27163811;C/G missense_variant False HOXB13@p.E119Q 1 0.194174757 ENSG00000159184 chr17:48728239-48728239;C/G missense_variant False HOXB1@p.E244K 1 0.089285714 ENSG00000120094 chr17:48529723-48529723;C/T missense_variant False HOXB1@p.G145V 1 0.116666667 ENSG00000120094 chr17:48530471-48530471;C/A missense_variant False HOXB1@p.K184T 1 0.304347826 ENSG00000120094 chr17:48530354-48530354;T/G missense_variant False HOXB1@p.P113A 1 0.134615385 ENSG00000120094 chr17:48530568-48530568;G/C missense_variant False HOXB1@p.R232Q 1 0.063636364 ENSG00000120094 chr17:48529758-48529758;C/T missense_variant False HOXB1@p.R263P 1 0.382113821 ENSG00000120094 chr17:48529665-48529665;C/G missense_variant False HOXB1@p.S284L 1 0.116666667 ENSG00000120094 chr17:48529602-48529602;G/A missense_variant False HOXB2@p.E161K 1 0.157142857 ENSG00000173917 chr17:48543658-48543658;C/T missense_variant False HOXB2@p.G10R 1 0.282608696 ENSG00000173917 chr17:48544884-48544884;C/T missense_variant False HOXB2@p.M196I 1 0.333333333 ENSG00000173917 chr17:48543551-48543551;C/T missense_variant False HOXB2@p.R280C 1 0.280701754 ENSG00000173917 chr17:48543301-48543301;G/A missense_variant False HOXB3@p.G257E 1 0.204724409 ENSG00000120093 chr17:48550860-48550860;C/T missense_variant False HOXB3@p.Q38E 1 0.145454545 ENSG00000120093 chr17:48552363-48552363;G/C missense_variant False HOXB4@p.E194Q 1 0.193548387 ENSG00000182742 chr17:48576898-48576898;C/G missense_variant False HOXA4@p.G212E 1 0.075757576 ENSG00000197576 chr7:27129553-27129553;C/T missense_variant False HOXA3@p.P288* 1 0.348837209 ENSG00000105997 chr7:27108382-27108386;ACGGG/- frameshift_variant False HOOK2@p.E51K 1 0.254237288 ENSG00000095066 chr19:12774722-12774722;C/T missense_variant False HORMAD1@p.S287F 1 0.117647059 ENSG00000143452 chr1:150704288-150704288;G/A missense_variant False HOXA10@p.R378K 1 0.243478261 ENSG00000253293 chr7:27171999-27171999;C/T missense_variant False HOXA10@p.L361I 1 0.090697674 ENSG00000253293 chr7:27172051-27172051;G/T missense_variant False HOXA10@p.I369V 1 0.239726027 ENSG00000253293 chr7:27172027-27172027;T/C missense_variant False HOXA10@p.E402D 1 0.554216867 ENSG00000253293 chr7:27171926-27171926;C/G missense_variant False HOXA10@p.E368K 1 0.355555556 ENSG00000253293 chr7:27172030-27172030;C/T missense_variant False HORMAD1@p.S325Y 1 0.137931034 ENSG00000143452 chr1:150703368-150703368;G/T missense_variant False HORMAD1@p.R56T 1 0.163522013 ENSG00000143452 chr1:150717149-150717149;C/G missense_variant False HOXA3@p.E290K 1 0.115942029 ENSG00000105997 chr7:27108379-27108379;C/T missense_variant False HORMAD1@p.H314D 1 0.56 ENSG00000143452 chr1:150704126-150704126;G/C missense_variant False HORMAD1@p.E50K 1 0.053268765 ENSG00000143452 chr1:150717168-150717168;C/T missense_variant False HOOK3@p.P50A 1 0.153846154 ENSG00000168172 chr8:42925561-42925561;C/G missense_variant False HOOK3@p.E295G 1 0.273684211 ENSG00000168172 chr8:42966577-42966577;A/G missense_variant False HOOK2@p.S58L 1 0.36 ENSG00000095066 chr19:12774700-12774700;G/A missense_variant False HOOK2@p.R682Q 1 0.12295082 ENSG00000095066 chr19:12763397-12763397;C/T missense_variant False HOXA11@p.F126L 1 0.275229358 ENSG00000005073 chr7:27184767-27184767;G/C missense_variant False HOXA11@p.I266M 1 0.836206897 ENSG00000005073 chr7:27182940-27182940;A/C missense_variant False HOXA11@p.M294I 1 0.265151515 ENSG00000005073 chr7:27182856-27182856;C/T missense_variant False HOXA11@p.S111L 1 0.746666667 ENSG00000005073 chr7:27184813-27184813;G/A missense_variant False HOXA11@p.T150I 1 0.117647059 ENSG00000005073 chr7:27184696-27184696;G/A missense_variant False HOXA13@p.E363K 1 0.113300493 ENSG00000106031 chr7:27198278-27198278;C/T missense_variant False HOXA13@p.E363V 1 0.114427861 ENSG00000106031 chr7:27198277-27198277;T/A missense_variant False HOXA13@p.I355L 1 0.09009009 ENSG00000106031 chr7:27198302-27198302;T/G missense_variant False HOXA13@p.S318C 1 0.367924528 ENSG00000106031 chr7:27198412-27198412;G/C missense_variant False HOXA1@p.G133E 1 0.076388889 ENSG00000105991 chr7:27095515-27095515;C/T missense_variant False HOXA1@p.S199F 1 0.243589744 ENSG00000105991 chr7:27095317-27095317;G/A missense_variant False HOXA1@p.S30W 1 0.180722892 ENSG00000105991 chr7:27095824-27095824;G/C missense_variant False HOXA1@p.T175Ifs*32 1 0.295180723 ENSG00000105991 chr7:27095385-27095391;ATACGTA/- frameshift_variant False HOXA2@p.C333Y 1 0.486111111 ENSG00000105996 chr7:27100859-27100859;C/T missense_variant False HOXA2@p.E225K 1 0.515151515 ENSG00000105996 chr7:27101184-27101184;C/T missense_variant False HOXA2@p.R144Q 1 0.548387097 ENSG00000105996 chr7:27101426-27101426;C/T missense_variant False HOXA2@p.T278I 1 0.158415842 ENSG00000105996 chr7:27101024-27101024;G/A missense_variant False HNRNPDL@p.E247K 1 0.23015873 ENSG00000152795 chr4:82428053-82428053;C/T missense_variant False HNRNPDL@p.E121Q 1 0.509433962 ENSG00000152795 chr4:82429330-82429330;C/G missense_variant False HNRNPDL@p.D182H 1 0.144067797 ENSG00000152795 chr4:82428346-82428346;C/G missense_variant False HMGB2@p.E156K 1 0.419811321 ENSG00000164104 chr4:173332826-173332826;C/T missense_variant False HMGCLL1@p.P128T 1 0.193939394 ENSG00000146151 chr6:55541734-55541734;G/T missense_variant False HMGCLL1@p.M262K 1 0.28358209 ENSG00000146151 chr6:55495519-55495519;A/T missense_variant False HMGCLL1@p.L326F 1 0.566037736 ENSG00000146151 chr6:55439467-55439467;C/G missense_variant False HMGCLL1@p.H141R 1 0.432835821 ENSG00000146151 chr6:55516569-55516569;T/C missense_variant False HMGB2@p.S168I 1 0.161290323 ENSG00000164104 chr4:173332207-173332207;C/A missense_variant False HMGB2@p.E196K 1 0.192771084 ENSG00000164104 chr4:173332124-173332124;C/T missense_variant False HMGB2@p.D124H 1 0.417989418 ENSG00000164104 chr4:173332922-173332922;C/G missense_variant False HMG20A@p.D203N 1 0.252427184 ENSG00000140382 chr15:77471806-77471806;G/A missense_variant False HMGB2@p.A94S 1 0.157407407 ENSG00000164104 chr4:173333085-173333085;C/A missense_variant False HMGB1@p.P111L 1 0.1125 ENSG00000189403 chr13:30462677-30462677;G/A missense_variant False HMGB1@p.E56Q 1 0.470588235 ENSG00000189403 chr13:30463337-30463337;C/G missense_variant False HMGA2@p.E98K 1 0.254237288 ENSG00000149948 chr12:65963254-65963254;G/A missense_variant False HMG20B@p.F192L 1 0.32 ENSG00000064961 chr19:3576609-3576609;C/A missense_variant False HMG20B@p.E42Q 1 0.194444444 ENSG00000064961 chr19:3573777-3573777;G/C missense_variant False HMGCLL1@p.T292M 1 0.096153846 ENSG00000146151 chr6:55495429-55495429;G/A missense_variant False HMGCR@p.E610K 1 0.52173913 ENSG00000113161 chr5:75355470-75355470;G/A missense_variant False HMGCR@p.G180E 1 0.485549133 ENSG00000113161 chr5:75347292-75347292;G/A missense_variant False HMGCR@p.K362N 1 0.408450704 ENSG00000113161 chr5:75351212-75351212;G/T missense_variant False HMGCR@p.L65V 1 0.434782609 ENSG00000113161 chr5:75343880-75343880;C/G missense_variant False HMGCR@p.N750I 1 0.208333333 ENSG00000113161 chr5:75359261-75359261;A/T missense_variant False HMGCS1@p.D217V 1 0.382716049 ENSG00000112972 chr5:43297091-43297091;T/A missense_variant False HMGCS1@p.D399E 1 0.059171598 ENSG00000112972 chr5:43292960-43292960;A/T missense_variant False HMGCS1@p.D99N 1 0.380165289 ENSG00000112972 chr5:43298671-43298671;C/T missense_variant False HMGCS1@p.Q29E 1 0.26984127 ENSG00000112972 chr5:43298881-43298881;G/C missense_variant False HMGCS1@p.R463K 1 0.217821782 ENSG00000112972 chr5:43292559-43292559;C/T missense_variant False HMGCS1@p.V136I 1 0.205128205 ENSG00000112972 chr5:43298560-43298560;C/T missense_variant False HMGCS1@p.V174A 1 0.198630137 ENSG00000112972 chr5:43298062-43298062;A/G missense_variant False HMGCS2@p.C166F 1 0.301886792 ENSG00000134240 chr1:119764234-119764234;C/A missense_variant False HMGCS2@p.D156H 1 0.107692308 ENSG00000134240 chr1:119764265-119764265;C/G missense_variant False HMGCS2@p.E115K 1 0.112244898 ENSG00000134240 chr1:119764388-119764388;C/T missense_variant False HMGCS2@p.G232E 1 0.279069767 ENSG00000134240 chr1:119759273-119759273;C/T missense_variant False HMG20B@p.E190K 1 0.541666667 ENSG00000064961 chr19:3576601-3576601;G/A missense_variant False HMCN1@p.Y5285C 1 0.141176471 ENSG00000143341 chr1:186174553-186174553;A/G missense_variant False HMGCS2@p.S451Lfs*8 1 0.107843137 ENSG00000134240 chr1:119752618-119752619;-/G frameshift_variant False HMCN1@p.P356A 1 0.142857143 ENSG00000143341 chr1:185923434-185923434;C/G missense_variant False HMCN1@p.Q3242E 1 0.130434783 ENSG00000143341 chr1:186088752-186088752;C/G missense_variant False HMCN1@p.Q2763E 1 0.186440678 ENSG00000143341 chr1:186074888-186074888;C/G missense_variant False HMCN1@p.Q1276H 1 0.474576271 ENSG00000143341 chr1:185997478-185997478;A/C missense_variant False HMCN1@p.P997A 1 0.11627907 ENSG00000143341 chr1:185987485-185987485;C/G missense_variant False HMCN1@p.P935L 1 0.155172414 ENSG00000143341 chr1:185984182-185984182;C/T missense_variant False HMCN1@p.P5377L 1 0.224806202 ENSG00000143341 chr1:186178602-186178602;C/T missense_variant False HMCN1@p.P3056T 1 0.25 ENSG00000143341 chr1:186087448-186087448;C/A missense_variant False HMCN1@p.Y186N 1 0.194805195 ENSG00000143341 chr1:185865798-185865798;T/A missense_variant False HMCN1@p.P2677Qfs*8 1 0.362204724 ENSG00000143341 chr1:186070642-186070642;G/- frameshift_variant False HMCN1@p.N3438Y 1 0.176470588 ENSG00000143341 chr1:186095260-186095260;A/T missense_variant False HMCN1@p.N1971K 1 0.188405797 ENSG00000143341 chr1:186038890-186038890;C/G missense_variant False HMCN1@p.M4057I 1 0.754716981 ENSG00000143341 chr1:186120087-186120087;G/A missense_variant False HMCN1@p.L5582F 1 0.434210526 ENSG00000143341 chr1:186189716-186189716;G/C missense_variant False HMCN1@p.L4985Q 1 0.403508772 ENSG00000143341 chr1:186152807-186152807;T/A missense_variant False HMCN1@p.Q5070H 1 0.157894737 ENSG00000143341 chr1:186153941-186153941;G/C missense_variant False HMCN1@p.R1310K 1 0.140495868 ENSG00000143341 chr1:186000099-186000099;G/A missense_variant False HMCN1@p.R1607Q 1 0.34 ENSG00000143341 chr1:186015348-186015348;G/A missense_variant False HMCN1@p.R1788C 1 0.350157729 ENSG00000143341 chr1:186018244-186018244;C/T missense_variant False HMCN1@p.R2306P 1 0.27027027 ENSG00000143341 chr1:186055447-186055447;G/C missense_variant False HMCN1@p.R3213Q 1 0.333333333 ENSG00000143341 chr1:186088666-186088666;G/A missense_variant False HMCN1@p.R4666S 1 0.092783505 ENSG00000143341 chr1:186144246-186144246;A/T missense_variant False HMCN1@p.R4666T 1 0.083769634 ENSG00000143341 chr1:186144245-186144245;G/C missense_variant False HMCN1@p.R4668K 1 0.266233766 ENSG00000143341 chr1:186144251-186144251;G/A missense_variant False HMCN1@p.R509W 1 0.111111111 ENSG00000143341 chr1:185928640-185928640;C/T missense_variant False HMCN1@p.R5493T 1 0.147058824 ENSG00000143341 chr1:186187946-186187946;G/C missense_variant False HMCN1@p.S2272L 1 0.5 ENSG00000143341 chr1:186053939-186053939;C/T missense_variant False HMCN1@p.S2311C 1 0.218181818 ENSG00000143341 chr1:186055462-186055462;C/G missense_variant False HMCN1@p.S283F 1 0.188034188 ENSG00000143341 chr1:185911728-185911728;C/T missense_variant False HMCN1@p.S3078F 1 0.086021505 ENSG00000143341 chr1:186087515-186087515;C/T missense_variant False HMCN1@p.T2277Lfs*16 1 0.115789474 ENSG00000143341 chr1:186053950-186053950;G/- frameshift_variant False HMCN1@p.V3817L 1 0.173228346 ENSG00000143341 chr1:186115302-186115302;G/C missense_variant False HMGCS2@p.Q466R 1 0.08988764 ENSG00000134240 chr1:119752572-119752572;T/C missense_variant False HMGN1@p.A12P 1 0.175 ENSG00000205581 chr21:39348559-39348559;C/G missense_variant False HNRNPD@p.T127I 1 0.25 ENSG00000138668 chr4:82359550-82359550;G/A missense_variant False HNRNPA1@p.T64A 1 0.504854369 ENSG00000135486 chr12:54281852-54281852;A/G missense_variant False HNRNPA2B1@p.I143M 1 0.526570048 ENSG00000122566 chr7:26196889-26196889;T/C missense_variant False HNRNPA2B1@p.E31Q 1 0.209302326 ENSG00000122566 chr7:26197684-26197684;C/G missense_variant False HNRNPA2B1@p.E16Q 1 0.28 ENSG00000122566 chr7:26197729-26197729;C/G missense_variant False HNRNPA2B1@p.E133Q 1 0.31884058 ENSG00000122566 chr7:26196921-26196921;C/G missense_variant False HNRNPA2B1@p.D87H 1 0.278195489 ENSG00000122566 chr7:26197356-26197356;C/G missense_variant False HNRNPA2B1@p.D76H 1 0.309210526 ENSG00000122566 chr7:26197389-26197389;C/G missense_variant False HNRNPA1@p.S54C 1 0.19047619 ENSG00000135486 chr12:54281823-54281823;C/G missense_variant False HNMT@p.L285V 1 0.143884892 ENSG00000150540 chr2:138014104-138014104;C/G missense_variant False HNRNPA1@p.R97T 1 0.2 ENSG00000135486 chr12:54282100-54282100;G/C missense_variant False HNRNPA1@p.R82T 1 0.279279279 ENSG00000135486 chr12:54281907-54281907;G/C missense_variant False HNRNPA1@p.R140Q 1 0.264150943 ENSG00000135486 chr12:54282229-54282229;G/A missense_variant False HNRNPA1@p.M72I 1 0.3 ENSG00000135486 chr12:54281878-54281878;G/A missense_variant False HNRNPA1@p.E118Q 1 0.25862069 ENSG00000135486 chr12:54282162-54282162;G/C missense_variant False HNRNPA0@p.P162R 1 0.45 ENSG00000177733 chr5:137753582-137753582;G/C missense_variant False HNRNPA2B1@p.R200S 1 0.23902439 ENSG00000122566 chr7:26196570-26196570;C/G missense_variant False HNRNPA2B1@p.R350K 1 0.352601156 ENSG00000122566 chr7:26192529-26192529;C/T missense_variant False HNRNPA3@p.E135K 1 0.411764706 ENSG00000170144 chr2:177216038-177216038;G/A missense_variant False HNRNPA3@p.G219E 1 0.577235772 ENSG00000170144 chr2:177216688-177216688;G/A missense_variant False HNRNPA3@p.G79R 1 0.208791209 ENSG00000170144 chr2:177215789-177215789;G/C missense_variant False HNRNPA3@p.M67I 1 0.156626506 ENSG00000170144 chr2:177215755-177215755;G/C missense_variant False HNRNPA3@p.P294L 1 0.06993007 ENSG00000170144 chr2:177217765-177217765;C/T missense_variant False HNRNPA3@p.Q162H 1 0.405405405 ENSG00000170144 chr2:177216121-177216121;G/C missense_variant False HNRNPA3@p.R109T 1 0.252525253 ENSG00000170144 chr2:177215880-177215880;G/C missense_variant False HNRNPAB@p.R195Q 1 0.578947368 ENSG00000197451 chr5:178207140-178207140;G/A missense_variant False HNRNPAB@p.V124Qfs*19 1 0.359649123 ENSG00000197451 chr5:178205993-178205994;-/CAGC frameshift_variant False HNRNPC@p.P145A 1 0.196969697 ENSG00000092199 chr14:21213089-21213089;G/C missense_variant False HNRNPC@p.S156L 1 0.611764706 ENSG00000092199 chr14:21213055-21213055;G/A missense_variant False HNRNPCL1@p.E241K 1 0.12244898 ENSG00000179172 chr1:12847569-12847569;C/T missense_variant False HNRNPCL1@p.L175F 1 0.185810811 ENSG00000179172 chr1:12847765-12847765;C/A missense_variant False HNRNPCL1@p.V67I 1 0.310679612 ENSG00000179172 chr1:12848091-12848091;C/T missense_variant False HNRNPD@p.Q264E 1 0.377862595 ENSG00000138668 chr4:82356859-82356859;G/C missense_variant False HNRNPA0@p.G301A 1 0.160714286 ENSG00000177733 chr5:137753165-137753165;C/G missense_variant False HNMT@p.E118K 1 0.192307692 ENSG00000150540 chr2:138002117-138002117;G/A missense_variant False HMGN1@p.E10K 1 0.368421053 ENSG00000205581 chr21:39348565-39348565;C/T missense_variant False HMGXB4@p.S137T 1 0.418918919 ENSG00000100281 chr22:35264797-35264797;T/A missense_variant False HMX2@p.S184C 1 0.4 ENSG00000188816 chr10:123149852-123149852;C/G missense_variant False HMX2@p.R200C 1 0.25 ENSG00000188816 chr10:123149899-123149899;C/T missense_variant False HMX2@p.P73L 1 0.275 ENSG00000188816 chr10:123148596-123148596;C/T missense_variant False HMSD@p.I117T 1 0.707317073 ENSG00000221887 chr18:63960285-63960285;T/C missense_variant False HMOX1@p.R269Q 1 0.2 ENSG00000100292 chr22:35393537-35393537;G/A missense_variant False HMOX1@p.P170S 1 0.155555556 ENSG00000100292 chr22:35387048-35387048;C/T missense_variant False HMGXB4@p.R185W 1 0.266129032 ENSG00000100281 chr22:35264941-35264941;C/T missense_variant False HNF4G@p.Y279C 1 0.262773723 ENSG00000164749 chr8:75558891-75558891;A/G missense_variant False HMGXB4@p.K98N 1 0.296296296 ENSG00000100281 chr22:35264682-35264682;G/C missense_variant False HMGXB4@p.E443K 1 0.134146341 ENSG00000100281 chr22:35286026-35286026;G/A missense_variant False HMGXB4@p.E265K 1 0.638297872 ENSG00000100281 chr22:35265181-35265181;G/A missense_variant False HMGN5@p.S42L 1 0.2 ENSG00000198157 chrX:81118436-81118436;G/A missense_variant False HMGN4@p.D61N 1 0.344086022 ENSG00000182952 chr6:26545387-26545387;G/A missense_variant False HMGN1@p.G93E 1 0.175438596 ENSG00000205581 chr21:39343137-39343137;C/T missense_variant False HMX2@p.S221L 1 0.096774194 ENSG00000188816 chr10:123149963-123149963;C/T missense_variant False HNF1A@p.A385T 1 0.15 ENSG00000135100 chr12:120996586-120996586;G/A missense_variant True HNF1A@p.E219D 1 0.211538462 ENSG00000135100 chr12:120993650-120993650;G/C missense_variant True HNF1A@p.E366Q 1 0.669565217 ENSG00000135100 chr12:120996402-120996402;G/C missense_variant True HNF1A@p.G415R 1 0.477272727 ENSG00000135100 chr12:120996676-120996676;G/A missense_variant True HNF1A@p.Q444H 1 1.0 ENSG00000135100 chr12:120997496-120997496;G/C missense_variant True HNF1A@p.R114H 1 0.414634146 ENSG00000135100 chr12:120988847-120988847;G/A missense_variant True HNF1A@p.V480A 1 0.393939394 ENSG00000135100 chr12:120997603-120997603;T/C missense_variant True HNF1B@p.E178K 1 0.179775281 ENSG00000275410 chr17:37739452-37739452;C/T missense_variant False HNF1B@p.H368Y 1 0.342857143 ENSG00000275410 chr17:37710607-37710607;G/A missense_variant False HNF4A@p.A185T 1 0.14516129 ENSG00000101076 chr20:44414567-44414567;G/A missense_variant False HNF4A@p.E200K 1 0.25 ENSG00000101076 chr20:44414612-44414612;G/A missense_variant False HNF4A@p.E226K 1 0.24691358 ENSG00000101076 chr20:44418452-44418452;G/A missense_variant False HNF4A@p.L54M 1 0.041666667 ENSG00000101076 chr20:44406102-44406102;C/A missense_variant False HNF4A@p.R89Q 1 0.193548387 ENSG00000101076 chr20:44406208-44406208;G/A missense_variant False HNF4G@p.I303T 1 0.097222222 ENSG00000164749 chr8:75558963-75558963;T/C missense_variant False HNF4G@p.L220V 1 0.188679245 ENSG00000164749 chr8:75558583-75558583;C/G missense_variant False HHIPL2@p.R305Q 1 0.473251029 ENSG00000143512 chr1:222543597-222543597;C/T missense_variant False HHIPL2@p.I291V 1 0.497584541 ENSG00000143512 chr1:222543640-222543640;T/C missense_variant False HAUS6@p.Q110E 1 0.119565217 ENSG00000147874 chr9:19093279-19093279;G/C missense_variant False HEATR4@p.N211K 1 0.222222222 ENSG00000187105 chr14:73522520-73522520;G/C missense_variant False HEATR5A@p.E1488D 1 0.074074074 ENSG00000129493 chr14:31309160-31309160;C/G missense_variant False HEATR5A@p.E1396Q 1 0.764705882 ENSG00000129493 chr14:31315802-31315802;C/G missense_variant False HEATR5A@p.D540Y 1 0.269230769 ENSG00000129493 chr14:31380557-31380557;C/A missense_variant False HEATR5A@p.D353H 1 0.151515152 ENSG00000129493 chr14:31387252-31387252;C/G missense_variant False HEATR5A@p.D1444N 1 0.558823529 ENSG00000129493 chr14:31313079-31313079;C/T missense_variant False HEATR5A@p.D1286N 1 0.282051282 ENSG00000129493 chr14:31321612-31321612;C/T missense_variant False HEATR4@p.L756R 1 0.106060606 ENSG00000187105 chr14:73500569-73500569;A/C missense_variant False HEATR5A@p.L1984F 1 0.464052288 ENSG00000129493 chr14:31293496-31293496;G/A missense_variant False HEATR4@p.K761N 1 0.528735632 ENSG00000187105 chr14:73500553-73500553;C/G missense_variant False HEATR4@p.E722Q 1 0.228915663 ENSG00000187105 chr14:73500672-73500672;C/G missense_variant False HEATR4@p.E306Q 1 0.221518987 ENSG00000187105 chr14:73521005-73521005;C/G missense_variant False HEATR4@p.E1007Q 1 0.142857143 ENSG00000187105 chr14:73478668-73478668;C/G missense_variant False HEATR3@p.E216K 1 0.350877193 ENSG00000155393 chr16:50075594-50075594;G/A missense_variant False HEATR1@p.R761K 1 0.159851301 ENSG00000119285 chr1:236583156-236583156;C/T missense_variant False HEATR5A@p.K376N 1 0.275862069 ENSG00000129493 chr14:31387181-31387181;C/G missense_variant False HEATR5A@p.R1289H 1 0.333333333 ENSG00000129493 chr14:31321602-31321602;C/T missense_variant False HECW1@p.A893G 1 0.415384615 ENSG00000002746 chr7:43463686-43463686;C/G missense_variant False HEATR5B@p.H456Y 1 0.270833333 ENSG00000008869 chr2:37064958-37064958;G/A missense_variant False HEATR5B@p.S1735L 1 0.302857143 ENSG00000008869 chr2:37002419-37002419;G/A missense_variant False HEATR5B@p.R1482H 1 0.481481481 ENSG00000008869 chr2:37008688-37008688;C/T missense_variant False HEATR5B@p.L1959F 1 0.409395973 ENSG00000008869 chr2:36988682-36988682;G/A missense_variant False HEATR5B@p.L157F 1 0.510416667 ENSG00000008869 chr2:37075611-37075611;T/G missense_variant False HEATR5B@p.L1494F 1 0.197674419 ENSG00000008869 chr2:37008651-37008651;C/G missense_variant False HEATR5B@p.L1350V 1 0.114754098 ENSG00000008869 chr2:37019865-37019865;G/C missense_variant False HEATR5B@p.E809K 1 0.315789474 ENSG00000008869 chr2:37053582-37053582;C/T missense_variant False HEATR5A@p.V1206F 1 0.307692308 ENSG00000129493 chr14:31323736-31323736;C/A missense_variant False HEATR5B@p.E595Q 1 0.08974359 ENSG00000008869 chr2:37060647-37060647;C/G missense_variant False HEATR5B@p.E1824Gfs*13 1 0.131578947 ENSG00000008869 chr2:37000661-37000662;CA/- frameshift_variant False HEATR5B@p.E1678Q 1 0.102941176 ENSG00000008869 chr2:37003560-37003560;C/G missense_variant False HEATR5B@p.D1798H 1 0.303571429 ENSG00000008869 chr2:37000739-37000739;C/G missense_variant False HEATR5B@p.D1634N 1 0.328767123 ENSG00000008869 chr2:37005637-37005637;C/T missense_variant False HEATR5A@p.V355I 1 0.566037736 ENSG00000129493 chr14:31387246-31387246;C/T missense_variant False HEATR1@p.L1287F 1 0.25 ENSG00000119285 chr1:236571438-236571438;C/G missense_variant False HEATR1@p.G57A 1 0.217391304 ENSG00000119285 chr1:236603349-236603349;C/G missense_variant False HEATR1@p.F45L 1 0.379310345 ENSG00000119285 chr1:236603961-236603961;G/T missense_variant False HDLBP@p.E403K 1 0.378787879 ENSG00000115677 chr2:241253479-241253479;C/T missense_variant False HDLBP@p.I76M 1 0.318181818 ENSG00000115677 chr2:241264454-241264454;G/C missense_variant False HDLBP@p.H593Y 1 0.210526316 ENSG00000115677 chr2:241247097-241247097;G/A missense_variant False HDLBP@p.G96R 1 0.215686275 ENSG00000115677 chr2:241262875-241262875;C/T missense_variant False HDLBP@p.E921Q 1 0.337349398 ENSG00000115677 chr2:241236758-241236758;C/G missense_variant False HDLBP@p.E620D 1 0.292576419 ENSG00000115677 chr2:241246842-241246842;C/G missense_variant False HDLBP@p.E59Q 1 0.176165803 ENSG00000115677 chr2:241264507-241264507;C/G missense_variant False HDHD5@p.K417N 1 0.285714286 ENSG00000069998 chr22:17138042-17138042;C/G missense_variant False HEATR1@p.F1912L 1 0.106382979 ENSG00000119285 chr1:236555569-236555569;G/C missense_variant False HDHD5@p.H326Y 1 0.285714286 ENSG00000069998 chr22:17138317-17138317;G/A missense_variant False HDHD3@p.V220M 1 0.234567901 ENSG00000119431 chr9:113373697-113373697;C/T missense_variant False HDHD3@p.P249S 1 0.366906475 ENSG00000119431 chr9:113373610-113373610;G/A missense_variant False HDHD3@p.E152K 1 0.201716738 ENSG00000119431 chr9:113373901-113373901;C/T missense_variant False HDHD3@p.E118Q 1 0.206896552 ENSG00000119431 chr9:113374003-113374003;C/G missense_variant False HDGFL3@p.G112V 1 0.558139535 ENSG00000166503 chr15:83157539-83157539;C/A missense_variant False HDLBP@p.K453N 1 0.145631068 ENSG00000115677 chr2:241252970-241252970;C/G missense_variant False HDLBP@p.M889T 1 0.389705882 ENSG00000115677 chr2:241238732-241238732;A/G missense_variant False HDLBP@p.P21L 1 0.440677966 ENSG00000115677 chr2:241266808-241266808;G/A missense_variant False HDLBP@p.R146T 1 0.47826087 ENSG00000115677 chr2:241262724-241262724;C/G missense_variant False HDLBP@p.S583L 1 0.648648649 ENSG00000115677 chr2:241247126-241247126;G/A missense_variant False HDX@p.D127N 1 0.901639344 ENSG00000165259 chrX:84469344-84469344;C/T missense_variant False HDX@p.F266L 1 0.157303371 ENSG00000165259 chrX:84468927-84468927;A/G missense_variant False HDX@p.M59K 1 0.230769231 ENSG00000165259 chrX:84469547-84469547;A/T missense_variant False HDX@p.R256K 1 0.220720721 ENSG00000165259 chrX:84468956-84468956;C/T missense_variant False HEATR1@p.A1869T 1 0.087719298 ENSG00000119285 chr1:236555849-236555849;C/T missense_variant False HEATR1@p.D1269N 1 0.280898876 ENSG00000119285 chr1:236571589-236571589;C/T missense_variant False HEATR1@p.D42G 1 0.466666667 ENSG00000119285 chr1:236603971-236603971;T/C missense_variant False HEATR1@p.D760H 1 0.952380952 ENSG00000119285 chr1:236583160-236583160;C/G missense_variant False HEATR1@p.E1069Q 1 0.523809524 ENSG00000119285 chr1:236574783-236574783;C/G missense_variant False HEATR1@p.E1409K 1 0.435897436 ENSG00000119285 chr1:236566729-236566729;C/T missense_variant False HEATR1@p.E1421K 1 0.438356164 ENSG00000119285 chr1:236566693-236566693;C/T missense_variant False HEATR1@p.E1421Q 1 0.34375 ENSG00000119285 chr1:236566693-236566693;C/G missense_variant False HEATR5B@p.S1737C 1 0.23015873 ENSG00000008869 chr2:37002413-37002413;G/C missense_variant False HEATR5B@p.S1846F 1 0.315789474 ENSG00000008869 chr2:37000594-37000594;G/A missense_variant False HEATR5B@p.S737L 1 0.102040816 ENSG00000008869 chr2:37057330-37057330;G/A missense_variant False HECTD4@p.A993S 1 0.302013423 ENSG00000173064 chr12:112259156-112259156;C/A missense_variant False HECTD4@p.E2743K 1 0.537037037 ENSG00000173064 chr12:112204522-112204522;C/T missense_variant False HECTD4@p.E2443K 1 0.182926829 ENSG00000173064 chr12:112216825-112216825;C/T missense_variant False HECTD4@p.E2300Q 1 0.3 ENSG00000173064 chr12:112226709-112226709;C/G missense_variant False HECTD4@p.E2127Q 1 0.29787234 ENSG00000173064 chr12:112229832-112229832;C/G missense_variant False HECTD4@p.E1428K 1 0.428571429 ENSG00000173064 chr12:112247511-112247511;C/T missense_variant False HECTD4@p.C1694S 1 0.333333333 ENSG00000173064 chr12:112239900-112239900;A/T missense_variant False HECTD4@p.A3058S 1 0.5 ENSG00000173064 chr12:112192674-112192674;C/A missense_variant False HECTD2@p.K443N 1 0.177083333 ENSG00000165338 chr10:91492381-91492381;G/C missense_variant False HECTD3@p.V210I 1 0.113207547 ENSG00000126107 chr1:45010117-45010117;C/T missense_variant False HECTD3@p.R473H 1 0.111111111 ENSG00000126107 chr1:45007498-45007498;C/T missense_variant False HECTD3@p.Q375H 1 0.398340249 ENSG00000126107 chr1:45008649-45008649;C/A missense_variant False HECTD3@p.E513K 1 0.177304965 ENSG00000126107 chr1:45007238-45007238;C/T missense_variant False HECTD2@p.R407K 1 0.173913043 ENSG00000165338 chr10:91491228-91491228;G/A missense_variant False HECTD2@p.L441F 1 0.448275862 ENSG00000165338 chr10:91492375-91492375;G/C missense_variant False HECTD4@p.E3019Q 1 0.4 ENSG00000173064 chr12:112193086-112193086;C/G missense_variant False HECTD4@p.E3704Q 1 0.545454545 ENSG00000173064 chr12:112179269-112179269;C/G missense_variant False HECTD4@p.E3730Q 1 0.25 ENSG00000173064 chr12:112179191-112179191;C/G missense_variant False HECTD4@p.E4022K 1 0.125 ENSG00000173064 chr12:112169641-112169641;C/T missense_variant False HECTD4@p.E768K 1 0.137931034 ENSG00000173064 chr12:112269723-112269723;C/T missense_variant False HECTD4@p.G1087V 1 0.258992806 ENSG00000173064 chr12:112256381-112256381;C/A missense_variant False HECTD4@p.L1286V 1 0.268656716 ENSG00000173064 chr12:112250232-112250232;G/C missense_variant False HECTD4@p.L3672V 1 0.4 ENSG00000173064 chr12:112179365-112179365;G/C missense_variant False HECTD4@p.N502S 1 0.616666667 ENSG00000173064 chr12:112283133-112283133;T/C missense_variant False HECTD4@p.P3761A 1 0.65 ENSG00000173064 chr12:112179007-112179007;G/C missense_variant False HECTD4@p.R1094T 1 0.214765101 ENSG00000173064 chr12:112256360-112256360;C/G missense_variant False HECTD4@p.R1544K 1 0.217948718 ENSG00000173064 chr12:112243886-112243886;C/T missense_variant False HECTD4@p.R2204G 1 0.281553398 ENSG00000173064 chr12:112228715-112228715;T/C missense_variant False HECTD4@p.R2835Q 1 0.185185185 ENSG00000173064 chr12:112200695-112200695;C/T missense_variant False HECTD4@p.S1495C 1 0.117647059 ENSG00000173064 chr12:112246924-112246924;G/C missense_variant False HECTD4@p.S4373F 1 0.388888889 ENSG00000173064 chr12:112162520-112162520;G/A missense_variant False HECW1@p.A1167V 1 0.383333333 ENSG00000002746 chr7:43500761-43500761;C/T missense_variant False HECTD2@p.K754N 1 0.388489209 ENSG00000165338 chr10:91512315-91512315;G/C missense_variant False HECTD2@p.K278N 1 0.351351351 ENSG00000165338 chr10:91484519-91484519;G/C missense_variant False HEATR5B@p.S842I 1 0.484848485 ENSG00000008869 chr2:37049824-37049824;C/A missense_variant False HEBP1@p.R56W 1 0.271523179 ENSG00000013583 chr12:12989328-12989328;G/A missense_variant False HECTD1@p.E1206D 1 0.220588235 ENSG00000092148 chr14:31133636-31133636;C/G missense_variant False HECTD1@p.D651N 1 0.055555556 ENSG00000092148 chr14:31150203-31150203;C/T missense_variant False HECTD1@p.D565N 1 0.449197861 ENSG00000092148 chr14:31157233-31157233;C/T missense_variant False HECTD1@p.D1664Y 1 0.272727273 ENSG00000092148 chr14:31123039-31123039;C/A missense_variant False HECA@p.P215S 1 0.21875 ENSG00000112406 chr6:139166655-139166655;C/T missense_variant False HECA@p.H321Y 1 0.333333333 ENSG00000112406 chr6:139166973-139166973;C/T missense_variant False HEATR6@p.S727Y 1 0.153846154 ENSG00000068097 chr17:60056137-60056137;G/T missense_variant False HECTD2@p.E452K 1 0.125 ENSG00000165338 chr10:91492406-91492406;G/A missense_variant False HEATR6@p.N164K 1 0.074074074 ENSG00000068097 chr17:60073256-60073256;G/C missense_variant False HEATR6@p.L523V 1 0.069498069 ENSG00000068097 chr17:60059946-60059946;G/C missense_variant False HEATR6@p.E954Q 1 0.303030303 ENSG00000068097 chr17:60046139-60046139;C/G missense_variant False HEATR6@p.E341Q 1 0.156028369 ENSG00000068097 chr17:60067651-60067651;C/G missense_variant False HEATR6@p.E280K 1 0.132352941 ENSG00000068097 chr17:60069812-60069812;C/T missense_variant False HEATR6@p.E25Q 1 0.1875 ENSG00000068097 chr17:60078842-60078842;C/G missense_variant False HECTD1@p.E121K 1 0.388235294 ENSG00000092148 chr14:31178034-31178034;C/T missense_variant False HECTD1@p.E1461K 1 0.163265306 ENSG00000092148 chr14:31128990-31128990;C/T missense_variant False HECTD1@p.E1998Q 1 0.275362319 ENSG00000092148 chr14:31113349-31113349;C/G missense_variant False HECTD1@p.E2383K 1 0.131147541 ENSG00000092148 chr14:31106725-31106725;C/T missense_variant False HECTD1@p.E910Q 1 0.346153846 ENSG00000092148 chr14:31144161-31144161;C/G missense_variant False HECTD1@p.E957K 1 0.333333333 ENSG00000092148 chr14:31141862-31141862;C/T missense_variant False HECTD1@p.I26L 1 0.281690141 ENSG00000092148 chr14:31205861-31205861;T/G missense_variant False HECTD1@p.L1429V 1 0.378947368 ENSG00000092148 chr14:31129086-31129086;G/C missense_variant False HECTD1@p.L355S 1 0.328767123 ENSG00000092148 chr14:31173248-31173248;A/G missense_variant False HECTD1@p.M1528V 1 0.259259259 ENSG00000092148 chr14:31128789-31128789;T/C missense_variant False HECTD1@p.N1559D 1 0.142857143 ENSG00000092148 chr14:31128696-31128696;T/C missense_variant False HECTD1@p.P2200S 1 0.083333333 ENSG00000092148 chr14:31107587-31107587;G/A missense_variant False HECTD1@p.P2474A 1 0.21875 ENSG00000092148 chr14:31103046-31103046;G/C missense_variant False HECTD1@p.Q865E 1 0.176470588 ENSG00000092148 chr14:31144845-31144845;G/C missense_variant False HECTD1@p.S1495F 1 0.547169811 ENSG00000092148 chr14:31128887-31128887;G/A missense_variant False HECTD1@p.S2431C 1 0.557692308 ENSG00000092148 chr14:31105604-31105604;T/A missense_variant False HECTD2@p.D440H 1 0.154929577 ENSG00000165338 chr10:91492370-91492370;G/C missense_variant False HDGFL2@p.T47I 1 0.36 ENSG00000167674 chr19:4475342-4475342;C/T missense_variant False HDGFL2@p.E635K 1 0.084745763 ENSG00000167674 chr19:4501304-4501304;G/A missense_variant False HDGFL1@p.S76R 1 0.088235294 ENSG00000112273 chr6:22569803-22569803;C/A missense_variant False HCLS1@p.A209T 1 0.277227723 ENSG00000180353 chr3:121635801-121635801;C/T missense_variant False HCN1@p.D589H 1 0.048387097 ENSG00000164588 chr5:45267107-45267107;C/G missense_variant False HCN1@p.D480Y 1 0.410810811 ENSG00000164588 chr5:45303779-45303779;C/A missense_variant False HCN1@p.A702T 1 0.739130435 ENSG00000164588 chr5:45262490-45262490;C/T missense_variant False HCLS1@p.S13Y 1 0.375 ENSG00000180353 chr3:121658310-121658310;G/T missense_variant False HCLS1@p.E90Q 1 0.10619469 ENSG00000180353 chr3:121647339-121647339;C/G missense_variant False HCLS1@p.E64K 1 0.147887324 ENSG00000180353 chr3:121647417-121647417;C/T missense_variant False HCK@p.R404Q 1 0.350877193 ENSG00000101336 chr20:32093981-32093981;G/A missense_variant False HCFC1R1@p.G37del 1 0.130434783 ENSG00000103145 chr16:3023514-3023516;CTC/- inframe_deletion False HCK@p.N131S 1 0.215189873 ENSG00000101336 chr20:32074685-32074685;A/G missense_variant False HCK@p.E407K 1 0.067073171 ENSG00000101336 chr20:32093989-32093989;G/A missense_variant False HCK@p.A398P 1 0.206521739 ENSG00000101336 chr20:32093962-32093962;G/C missense_variant False HCFC2@p.S467T 1 0.225352113 ENSG00000111727 chr12:104093500-104093500;T/A missense_variant False HCFC2@p.H276Y 1 0.333333333 ENSG00000111727 chr12:104082558-104082558;C/T missense_variant False HCFC2@p.G71V 1 0.119047619 ENSG00000111727 chr12:104066215-104066215;G/T missense_variant False HCN1@p.E766K 1 0.126984127 ENSG00000164588 chr5:45262298-45262298;C/T missense_variant False HCN1@p.E870Q 1 0.171875 ENSG00000164588 chr5:45261986-45261986;C/G missense_variant False HCN1@p.E882K 1 0.090909091 ENSG00000164588 chr5:45261950-45261950;C/T missense_variant False HCN1@p.G342R 1 0.27027027 ENSG00000164588 chr5:45396698-45396698;C/T missense_variant False HCN1@p.G809C 1 0.56097561 ENSG00000164588 chr5:45262169-45262169;C/A missense_variant False HCN1@p.G824A 1 0.296296296 ENSG00000164588 chr5:45262123-45262123;C/G missense_variant False HCN1@p.L157I 1 0.103773585 ENSG00000164588 chr5:45645565-45645565;G/T missense_variant False HCN1@p.L400P 1 0.388888889 ENSG00000164588 chr5:45396523-45396523;A/G missense_variant False HCN1@p.P77L 1 0.352941176 ENSG00000164588 chr5:45695864-45695864;G/A missense_variant False HCN1@p.Q603K 1 0.154761905 ENSG00000164588 chr5:45262787-45262787;G/T missense_variant False HCN1@p.Q828E 1 0.238095238 ENSG00000164588 chr5:45262112-45262112;G/C missense_variant False HCN1@p.R273S 1 0.75 ENSG00000164588 chr5:45645215-45645215;C/A missense_variant False HCN1@p.R297T 1 0.595238095 ENSG00000164588 chr5:45461967-45461967;C/G missense_variant False HCN1@p.S340F 1 0.235294118 ENSG00000164588 chr5:45396703-45396703;G/A missense_variant False HCN1@p.T685K 1 0.282608696 ENSG00000164588 chr5:45262540-45262540;G/T missense_variant False HCN1@p.T820M 1 0.475 ENSG00000164588 chr5:45262135-45262135;G/A missense_variant False HCN1@p.V508M 1 0.131147541 ENSG00000164588 chr5:45303695-45303695;C/T missense_variant False HCFC2@p.E92Q 1 0.217741935 ENSG00000111727 chr12:104066277-104066277;G/C missense_variant False HCFC1@p.R37C 1 0.80952381 ENSG00000172534 chrX:153970732-153970732;G/A missense_variant False HCN2@p.E574K 1 0.25 ENSG00000099822 chr19:613383-613383;G/A missense_variant False HAX1@p.R20K 1 0.206451613 ENSG00000143575 chr1:154273341-154273341;G/A missense_variant False HBQ1@p.L69H 1 0.1875 ENSG00000086506 chr16:180776-180776;T/A missense_variant False HBP1@p.S159L 1 0.316037736 ENSG00000105856 chr7:107185878-107185878;C/T missense_variant False HBP1@p.F345L 1 0.186440678 ENSG00000105856 chr7:107190285-107190285;T/A missense_variant False HBEGF@p.A129Lfs*18 1 0.373493976 ENSG00000113070 chr5:140342648-140342648;C/- frameshift_variant False HBE1@p.K66R 1 0.328467153 ENSG00000213931 chr11:5269572-5269572;T/C missense_variant False HBB@p.Q132H 1 0.466216216 ENSG00000244734 chr11:5225646-5225646;C/A missense_variant False HAX1@p.H167D 1 0.108108108 ENSG00000143575 chr1:154273956-154273956;C/G missense_variant False HCFC1@p.P705A 1 0.611111111 ENSG00000172534 chrX:153957802-153957802;G/C missense_variant False HAVCR2@p.L217P 1 0.598039216 ENSG00000135077 chr5:157095332-157095332;A/G missense_variant False HAVCR1@p.S230F 1 0.123809524 ENSG00000113249 chr5:157049130-157049130;G/A missense_variant False HAUS8@p.E356K 1 0.348837209 ENSG00000131351 chr19:17050040-17050040;C/T missense_variant False HAUS8@p.A174S 1 0.08 ENSG00000131351 chr19:17058674-17058674;C/A missense_variant False HAUS6@p.Q63E 1 0.216216216 ENSG00000147874 chr9:19096711-19096711;G/C missense_variant False HAUS6@p.Q612E 1 0.578947368 ENSG00000147874 chr9:19058933-19058933;G/C missense_variant False HBS1L@p.E200K 1 0.242105263 ENSG00000112339 chr6:134997598-134997598;C/T missense_variant False HBS1L@p.G256E 1 0.349514563 ENSG00000112339 chr6:134997429-134997429;C/T missense_variant False HBS1L@p.I651M 1 0.25210084 ENSG00000112339 chr6:134966419-134966419;T/C missense_variant False HBS1L@p.R668C 1 0.235294118 ENSG00000112339 chr6:134966370-134966370;G/A missense_variant False HCAR1@p.D12Gfs*50 1 0.107142857 ENSG00000196917 chr12:122730305-122730306;-/C frameshift_variant False HCAR1@p.R130Q 1 0.455357143 ENSG00000196917 chr12:122729951-122729951;C/T missense_variant False HCAR1@p.R211T 1 0.38372093 ENSG00000196917 chr12:122729708-122729708;C/G missense_variant False HCAR2@p.P342A 1 0.245398773 ENSG00000182782 chr12:122702260-122702260;G/C missense_variant False HCAR2@p.Q217H 1 0.4 ENSG00000182782 chr12:122702633-122702633;C/G missense_variant False HCAR2@p.S58C 1 0.365853659 ENSG00000182782 chr12:122703111-122703111;G/C missense_variant False HCAR3@p.K367N 1 0.194174757 ENSG00000255398 chr12:122715637-122715637;C/A missense_variant False HCCS@p.A99S 1 0.432624113 ENSG00000004961 chrX:11117309-11117309;G/T missense_variant False HCCS@p.E74Q 1 0.047619048 ENSG00000004961 chrX:11114954-11114954;G/C missense_variant False HCCS@p.M32I 1 0.388888889 ENSG00000004961 chrX:11112156-11112156;G/A missense_variant False HCFC1@p.A375T 1 0.25 ENSG00000172534 chrX:153960123-153960123;C/T missense_variant False HCFC1@p.P134A 1 0.592920354 ENSG00000172534 chrX:153964227-153964227;G/C missense_variant False HCFC1@p.P1831Q 1 0.450980392 ENSG00000172534 chrX:153951375-153951375;G/T missense_variant False HCN1@p.V856D 1 0.084210526 ENSG00000164588 chr5:45262027-45262027;A/T missense_variant False HCN2@p.R339C 1 0.236111111 ENSG00000099822 chr19:603926-603926;C/T missense_variant False HDGFL1@p.E83K 1 0.441176471 ENSG00000112273 chr6:22569822-22569822;G/A missense_variant False HDAC6@p.H1115R 1 0.27027027 ENSG00000094631 chrX:48823962-48823962;A/G missense_variant False HDAC7@p.M828I 1 0.642857143 ENSG00000061273 chr12:47785857-47785857;C/T missense_variant False HDAC7@p.D937N 1 0.150943396 ENSG00000061273 chr12:47784083-47784083;C/T missense_variant False HDAC6@p.V874F 1 0.36 ENSG00000094631 chrX:48823019-48823019;G/T missense_variant False HDAC6@p.T260A 1 0.818181818 ENSG00000094631 chrX:48808298-48808298;A/G missense_variant False HDAC6@p.R480C 1 0.68852459 ENSG00000094631 chrX:48815997-48815997;C/T missense_variant False HDAC6@p.R236L 1 0.421052632 ENSG00000094631 chrX:48808107-48808107;G/T missense_variant False HDAC6@p.G344E 1 0.323529412 ENSG00000094631 chrX:48814865-48814865;G/A missense_variant False HDAC5@p.E591Q 1 0.760869565 ENSG00000108840 chr17:44087525-44087525;C/G missense_variant False HDAC6@p.G1014W 1 0.636363636 ENSG00000094631 chrX:48823439-48823439;G/T missense_variant False HDAC6@p.E562D 1 0.75 ENSG00000094631 chrX:48816528-48816528;G/C missense_variant False HDAC6@p.E432Q 1 0.593220339 ENSG00000094631 chrX:48815612-48815612;G/C missense_variant False HDAC6@p.D1128H 1 0.136363636 ENSG00000094631 chrX:48824000-48824000;G/C missense_variant False HDAC5@p.S886C 1 0.222222222 ENSG00000108840 chr17:44080833-44080833;G/C missense_variant False HDAC5@p.E620K 1 0.75 ENSG00000108840 chr17:44087438-44087438;C/T missense_variant False HDAC8@p.E23K 1 0.605633803 ENSG00000147099 chrX:72572695-72572695;C/T missense_variant False HDAC8@p.R361Q 1 0.222222222 ENSG00000147099 chrX:72351762-72351762;C/T missense_variant False HDAC8@p.V175M 1 0.180327869 ENSG00000147099 chrX:72495183-72495183;C/T missense_variant False HDAC9@p.G1022Afs*22 1 0.192982456 ENSG00000048052 chr7:18975845-18975845;G/- frameshift_variant False HDAC9@p.H935L 1 0.359223301 ENSG00000048052 chr7:18935818-18935818;A/T missense_variant False HDAC9@p.L411V 1 0.375 ENSG00000048052 chr7:18647989-18647989;C/G missense_variant False HDAC9@p.Q710H 1 0.157894737 ENSG00000048052 chr7:18762252-18762252;G/T missense_variant False HDAC9@p.S1038F 1 0.240740741 ENSG00000048052 chr7:18975896-18975896;C/T missense_variant False HDAC9@p.S522F 1 0.823529412 ENSG00000048052 chr7:18666319-18666319;C/T missense_variant False HDC@p.A243E 1 0.3 ENSG00000140287 chr15:50253659-50253659;G/T missense_variant False HDC@p.M94I 1 0.317460317 ENSG00000140287 chr15:50258440-50258440;C/A missense_variant False HDC@p.S481F 1 0.282608696 ENSG00000140287 chr15:50242807-50242807;G/A missense_variant False HDC@p.S641N 1 0.204819277 ENSG00000140287 chr15:50242327-50242327;C/T missense_variant False HDDC2@p.D62N 1 0.179775281 ENSG00000111906 chr6:125300560-125300560;C/T missense_variant False HDGF@p.M20I 1 0.181818182 ENSG00000143321 chr1:156751370-156751370;C/T missense_variant False HDGF@p.N77Tfs*78 1 0.27826087 ENSG00000143321 chr1:156745081-156745081;T/- frameshift_variant False HDGFL1@p.A23T 1 0.142857143 ENSG00000112273 chr6:22569642-22569642;G/A missense_variant False HDAC5@p.E614K 1 0.166666667 ENSG00000108840 chr17:44087456-44087456;C/T missense_variant False HDAC4@p.W1028Cfs*11 1 0.173913043 ENSG00000068024 chr2:239053579-239053591;CTGCAGGCAGCGC/- frameshift_variant False HCN3@p.E399Q 1 0.254545455 ENSG00000143630 chr1:155285270-155285270;G/C missense_variant False HCN4@p.S992G 1 0.388888889 ENSG00000138622 chr15:73323119-73323119;T/C missense_variant False HCRTR2@p.S260C 1 0.277777778 ENSG00000137252 chr6:55277396-55277396;C/G missense_variant False HCRTR2@p.P281L 1 0.176470588 ENSG00000137252 chr6:55277459-55277459;C/T missense_variant False HCRTR2@p.I185M 1 0.141025641 ENSG00000137252 chr6:55255288-55255288;T/G missense_variant False HCRTR2@p.C127W 1 0.055555556 ENSG00000137252 chr6:55248796-55248796;C/G missense_variant False HCRTR1@p.S394F 1 0.272727273 ENSG00000121764 chr1:31626883-31626883;C/T missense_variant False HCRTR1@p.F369S 1 0.259259259 ENSG00000121764 chr1:31626808-31626808;T/C missense_variant False HCN4@p.R375H 1 0.409836066 ENSG00000138622 chr15:73343470-73343470;C/T missense_variant False HDAC4@p.S290F 1 0.965517241 ENSG00000068024 chr2:239139793-239139793;G/A missense_variant False HCN4@p.P846L 1 0.4 ENSG00000138622 chr15:73323556-73323556;G/A missense_variant False HCN4@p.E180K 1 0.227272727 ENSG00000138622 chr15:73367733-73367733;C/T missense_variant False HCN4@p.A867V 1 0.169354839 ENSG00000138622 chr15:73323493-73323493;G/A missense_variant False HCN3@p.R63W 1 0.461538462 ENSG00000143630 chr1:155277777-155277777;C/T missense_variant False HCN3@p.R63G 1 0.307692308 ENSG00000143630 chr1:155277777-155277777;C/G missense_variant False HCN3@p.R533C 1 0.223404255 ENSG00000143630 chr1:155287292-155287292;C/T missense_variant False HCST@p.L47V 1 0.142857143 ENSG00000126264 chr19:35903801-35903801;C/G missense_variant False HDAC10@p.A434V 1 0.339622642 ENSG00000100429 chr22:50247926-50247926;G/A missense_variant False HDAC10@p.S545C 1 0.10989011 ENSG00000100429 chr22:50246314-50246314;G/C missense_variant False HDAC11@p.D282H 1 0.297297297 ENSG00000163517 chr3:13504483-13504483;G/C missense_variant False HDAC11@p.H35Q 1 0.157894737 ENSG00000163517 chr3:13481348-13481348;T/A missense_variant False HDAC11@p.N47H 1 0.257142857 ENSG00000163517 chr3:13481382-13481382;A/C missense_variant False HDAC11@p.R206H 1 0.105660377 ENSG00000163517 chr3:13502948-13502948;G/A missense_variant False HDAC11@p.V19M 1 0.425 ENSG00000163517 chr3:13481298-13481298;G/A missense_variant False HDAC1@p.L276I 1 0.5 ENSG00000116478 chr1:32330674-32330674;C/A missense_variant False HDAC1@p.M64I 1 0.259887006 ENSG00000116478 chr1:32316694-32316694;G/A missense_variant False HDAC1@p.Y204S 1 0.13559322 ENSG00000116478 chr1:32327652-32327652;A/C missense_variant False HDAC2@p.E204K 1 0.11299435 ENSG00000196591 chr6:113953306-113953306;C/T missense_variant False HDAC2@p.H180R 1 0.075 ENSG00000196591 chr6:113953377-113953377;T/C missense_variant False HDAC3@p.F8L 1 0.62 ENSG00000171720 chr5:141636767-141636767;G/C missense_variant False HDAC4@p.A770T 1 0.157894737 ENSG00000068024 chr2:239090074-239090074;C/T missense_variant False HDAC4@p.D54N 1 0.588235294 ENSG00000068024 chr2:239190012-239190012;C/T missense_variant False HDAC4@p.E587Q 1 0.464285714 ENSG00000068024 chr2:239115070-239115070;C/G missense_variant False HECW1@p.A644T 1 0.466666667 ENSG00000002746 chr7:43445102-43445102;G/A missense_variant False HECW1@p.E1177K 1 0.180722892 ENSG00000002746 chr7:43501220-43501220;G/A missense_variant False HHIPL2@p.F289L 1 0.450980392 ENSG00000143512 chr1:222543644-222543644;G/C missense_variant False HERPUD2@p.Q258E 1 0.113445378 ENSG00000122557 chr7:35635304-35635304;G/C missense_variant False HES1@p.N145Qfs*70 1 0.274193548 ENSG00000114315 chr3:194137820-194137821;-/C frameshift_variant False HES1@p.I61del 1 0.318181818 ENSG00000114315 chr3:194136687-194136689;TGA/- inframe_deletion False HES1@p.E7D 1 0.36 ENSG00000114315 chr3:194136401-194136401;G/C missense_variant False HES1@p.E211K 1 0.583333333 ENSG00000114315 chr3:194138021-194138021;G/A missense_variant False HES1@p.E129Q 1 0.20661157 ENSG00000114315 chr3:194137775-194137775;G/C missense_variant False HES1@p.A237Gfs*80 1 0.173913043 ENSG00000114315 chr3:194138095-194138096;-/GG frameshift_variant False HERPUD2@p.L229V 1 0.306818182 ENSG00000122557 chr7:35635391-35635391;G/C missense_variant False HES1@p.P168L 1 0.09929078 ENSG00000114315 chr3:194137893-194137893;C/T missense_variant False HERPUD1@p.Y165C 1 0.155234657 ENSG00000051108 chr16:56939299-56939299;A/G missense_variant False HERPUD1@p.S111C 1 0.217391304 ENSG00000051108 chr16:56936718-56936718;C/G missense_variant False HERC6@p.F720L 1 0.27027027 ENSG00000138642 chr4:88431215-88431215;C/G missense_variant False HERC6@p.F595L 1 0.608695652 ENSG00000138642 chr4:88423929-88423929;T/C missense_variant False HERC6@p.E85Q 1 0.294117647 ENSG00000138642 chr4:88383274-88383274;G/C missense_variant False HERC6@p.E462K 1 0.165178571 ENSG00000138642 chr4:88413092-88413092;G/A missense_variant False HES1@p.N259K 1 0.271428571 ENSG00000114315 chr3:194138167-194138167;C/A missense_variant False HES1@p.R46Q 1 0.423076923 ENSG00000114315 chr3:194136645-194136645;G/A missense_variant False HECW1@p.G1262A 1 0.185185185 ENSG00000002746 chr7:43508050-43508050;G/C missense_variant False HEXB@p.T474I 1 0.421052632 ENSG00000049860 chr5:74720431-74720431;C/T missense_variant False HEXIM1@p.E26V 1 0.358695652 ENSG00000186834 chr17:45149267-45149267;A/T missense_variant False HEXIM1@p.E217del 1 0.1875 ENSG00000186834 chr17:45149834-45149836;AGG/- inframe_deletion False HEXIM1@p.D235Y 1 0.166666667 ENSG00000186834 chr17:45149893-45149893;G/T missense_variant False HEXD@p.R189H 1 0.202643172 ENSG00000169660 chr17:82435807-82435807;G/A missense_variant False HEXD@p.P286S 1 0.446601942 ENSG00000169660 chr17:82437320-82437320;C/T missense_variant False HEXD@p.E429K 1 0.189189189 ENSG00000169660 chr17:82442208-82442208;G/A missense_variant False HEXB@p.M65I 1 0.34375 ENSG00000049860 chr5:74685455-74685455;G/A missense_variant False HES4@p.M42V 1 0.169014085 ENSG00000188290 chr1:999772-999772;T/C missense_variant False HEXB@p.E407Q 1 0.209677419 ENSG00000049860 chr5:74718340-74718340;G/C missense_variant False HEXA@p.R178C 1 0.25 ENSG00000213614 chr15:72353106-72353106;G/A missense_variant False HEXA@p.E160K 1 0.208333333 ENSG00000213614 chr15:72353160-72353160;C/T missense_variant False HESX1@p.R160H 1 0.153061224 ENSG00000163666 chr3:57198276-57198276;C/T missense_variant False HESX1@p.H167N 1 0.125 ENSG00000163666 chr3:57198256-57198256;G/T missense_variant False HES4@p.R93C 1 0.166666667 ENSG00000188290 chr1:999541-999541;G/A missense_variant False HERC6@p.E275Q 1 0.245901639 ENSG00000138642 chr4:88396078-88396078;G/C missense_variant False HERC6@p.E1001Q 1 0.173913043 ENSG00000138642 chr4:88442392-88442392;G/C missense_variant False HERC6@p.D907H 1 0.411764706 ENSG00000138642 chr4:88440037-88440037;G/C missense_variant False HERC2@p.I2033M 1 0.290322581 ENSG00000128731 chr15:28215732-28215732;G/C missense_variant False HERC2@p.S1539Y 1 0.415384615 ENSG00000128731 chr15:28233205-28233205;G/T missense_variant False HERC2@p.S1035L 1 0.152542373 ENSG00000128731 chr15:28248683-28248683;G/A missense_variant False HERC2@p.Q655E 1 0.094202899 ENSG00000128731 chr15:28263077-28263077;G/C missense_variant False HERC2@p.Q1837E 1 0.156862745 ENSG00000128731 chr15:28222171-28222171;G/C missense_variant False HERC2@p.L1302V 1 0.228070175 ENSG00000128731 chr15:28237062-28237062;G/C missense_variant False HERC2@p.L1151_G1156del 1 0.2 ENSG00000128731 chr15:28245991-28246008;CCAGCCTCTTGCATGAGA/- inframe_deletion False HERC2@p.H2688Y 1 0.347826087 ENSG00000128731 chr15:28196519-28196519;G/A missense_variant False HERC5@p.N785S 1 0.086206897 ENSG00000138646 chr4:88494241-88494241;A/G missense_variant False HERC2@p.H2335N 1 0.14084507 ENSG00000128731 chr15:28211068-28211068;G/T missense_variant False HERC2@p.G4245A 1 0.18579235 ENSG00000128731 chr15:28130231-28130231;C/G missense_variant False HERC2@p.E4138Q 1 0.2 ENSG00000128731 chr15:28132258-28132258;C/G missense_variant False HERC2@p.E2526V 1 0.222222222 ENSG00000128731 chr15:28202153-28202153;T/A missense_variant False HERC2@p.E2350Q 1 0.220338983 ENSG00000128731 chr15:28211023-28211023;C/G missense_variant False HERC2@p.E1448K 1 0.144927536 ENSG00000128731 chr15:28233673-28233673;C/T missense_variant False HERC2@p.S239L 1 0.433962264 ENSG00000128731 chr15:28274375-28274375;G/A missense_variant False HERC2@p.S2792L 1 0.242677824 ENSG00000128731 chr15:28192037-28192037;G/A missense_variant False HERC2@p.S329C 1 0.115384615 ENSG00000128731 chr15:28272312-28272312;G/C missense_variant False HERC2@p.S3556L 1 0.192982456 ENSG00000128731 chr15:28163173-28163173;G/A missense_variant False HERC2@p.V4237A 1 0.290429043 ENSG00000128731 chr15:28130255-28130255;A/G missense_variant False HERC4@p.E857Q 1 0.196969697 ENSG00000148634 chr10:67939614-67939614;C/G missense_variant False HERC4@p.I658M 1 0.180451128 ENSG00000148634 chr10:67956953-67956953;G/C missense_variant False HERC4@p.K572Nfs*23 1 0.217391304 ENSG00000148634 chr10:67988756-67988756;C/- frameshift_variant False HERC4@p.N324Kfs*26 1 0.220588235 ENSG00000148634 chr10:68014123-68014124;-/T frameshift_variant False HERC4@p.Q84H 1 0.445652174 ENSG00000148634 chr10:68044538-68044538;T/G missense_variant False HERC4@p.R996C 1 0.090163934 ENSG00000148634 chr10:67923119-67923119;G/A missense_variant False HERC5@p.A784Pfs*23 1 0.229166667 ENSG00000138646 chr4:88494235-88494235;T/- frameshift_variant False HERC5@p.E393K 1 0.338028169 ENSG00000138646 chr4:88469199-88469199;G/A missense_variant False HERC5@p.E606Q 1 0.222222222 ENSG00000138646 chr4:88486193-88486193;G/C missense_variant False HERC5@p.E702D 1 0.46 ENSG00000138646 chr4:88489309-88489309;G/T missense_variant False HERC5@p.F729L 1 0.482758621 ENSG00000138646 chr4:88493065-88493065;C/A missense_variant False HERC5@p.L959I 1 0.444444444 ENSG00000138646 chr4:88505678-88505678;C/A missense_variant False HEXIM1@p.E272D 1 0.196428571 ENSG00000186834 chr17:45150006-45150006;G/C missense_variant False HEXIM1@p.E304K 1 0.105 ENSG00000186834 chr17:45150100-45150100;G/A missense_variant False HEXIM1@p.F103L 1 0.227272727 ENSG00000186834 chr17:45149499-45149499;C/G missense_variant False HGS@p.S288L 1 0.384615385 ENSG00000185359 chr17:81693892-81693892;C/T missense_variant False HGSNAT@p.P346S 1 0.041666667 ENSG00000165102 chr8:43182168-43182168;C/T missense_variant False HGSNAT@p.F572L 1 0.155555556 ENSG00000165102 chr8:43197942-43197942;C/G missense_variant False HGS@p.V554Sfs*56 1 0.186440678 ENSG00000185359 chr17:81696699-81696699;G/- frameshift_variant False HGS@p.V175L 1 0.20661157 ENSG00000185359 chr17:81690728-81690728;G/T missense_variant False HGS@p.S584L 1 0.316455696 ENSG00000185359 chr17:81696867-81696867;C/T missense_variant False HGS@p.S309C 1 0.109090909 ENSG00000185359 chr17:81693955-81693955;C/G missense_variant False HGS@p.R3Q 1 0.441176471 ENSG00000185359 chr17:81684074-81684074;G/A missense_variant False HGF@p.R220Q 1 0.294117647 ENSG00000019991 chr7:81745087-81745087;C/T missense_variant False HGS@p.I108M 1 0.461538462 ENSG00000185359 chr17:81688736-81688736;C/G missense_variant False HGS@p.G448D 1 0.117647059 ENSG00000185359 chr17:81695949-81695949;G/A missense_variant False HGS@p.D159N 1 0.160714286 ENSG00000185359 chr17:81690680-81690680;G/A missense_variant False HGH1@p.E260K 1 0.233333333 ENSG00000235173 chr8:144138798-144138798;G/A missense_variant False HGFAC@p.R31W 1 0.256410256 ENSG00000109758 chr4:3442092-3442092;C/T missense_variant False HGFAC@p.E229Q 1 0.333333333 ENSG00000109758 chr4:3444397-3444397;G/C missense_variant False HGSNAT@p.S299F 1 0.226804124 ENSG00000165102 chr8:43178118-43178118;C/T missense_variant False HGSNAT@p.V584I 1 0.444444444 ENSG00000165102 chr8:43199411-43199411;G/A missense_variant False HHAT@p.I226M 1 0.418181818 ENSG00000054392 chr1:210404673-210404673;C/G missense_variant False HHATL@p.Y118F 1 0.166666667 ENSG00000010282 chr3:42698838-42698838;T/A missense_variant False HHIP@p.E108Q 1 0.168067227 ENSG00000164161 chr4:144652647-144652647;G/C missense_variant False HHIP@p.E259Q 1 0.059701493 ENSG00000164161 chr4:144659782-144659782;G/C missense_variant False HHIP@p.P485L 1 0.548387097 ENSG00000164161 chr4:144714255-144714255;C/T missense_variant False HHIP@p.R35S 1 0.23655914 ENSG00000164161 chr4:144646780-144646780;G/T missense_variant False HHIP@p.R53G 1 0.783783784 ENSG00000164161 chr4:144646832-144646832;A/G missense_variant False HHIP@p.R81W 1 0.088235294 ENSG00000164161 chr4:144646916-144646916;C/T missense_variant False HHIP@p.S476N 1 0.227272727 ENSG00000164161 chr4:144714228-144714228;G/A missense_variant False HHIP@p.S524R 1 0.122807018 ENSG00000164161 chr4:144715324-144715324;T/A missense_variant False HHIPL1@p.D204E 1 0.3125 ENSG00000182218 chr14:99652580-99652580;T/A missense_variant False HHIPL1@p.M499I 1 0.429824561 ENSG00000182218 chr14:99660401-99660401;G/A missense_variant False HHIPL1@p.S226W 1 0.24137931 ENSG00000182218 chr14:99652645-99652645;C/G missense_variant False HHIPL2@p.D362H 1 0.238095238 ENSG00000143512 chr1:222542046-222542046;C/G missense_variant False HHIPL2@p.E302Q 1 0.270348837 ENSG00000143512 chr1:222543607-222543607;C/G missense_variant False HGF@p.R533L 1 0.25 ENSG00000019991 chr7:81707308-81707308;C/A missense_variant False HGF@p.P460L 1 0.114942529 ENSG00000019991 chr7:81717258-81717258;G/A missense_variant False HEXIM1@p.M210I 1 0.314606742 ENSG00000186834 chr17:45149820-45149820;G/A missense_variant False HEY2@p.E57K 1 0.212598425 ENSG00000135547 chr6:125752013-125752013;G/A missense_variant False HFM1@p.F919S 1 0.196969697 ENSG00000162669 chr1:91319134-91319134;A/G missense_variant False HFE@p.R67L 1 0.323943662 ENSG00000010704 chr6:26090964-26090964;G/T missense_variant False HFE@p.P73T 1 0.096385542 ENSG00000010704 chr6:26090981-26090981;C/A missense_variant False HFE@p.P3L 1 0.22 ENSG00000010704 chr6:26087448-26087448;C/T missense_variant False HFE@p.H215Y 1 0.13740458 ENSG00000010704 chr6:26092711-26092711;C/T missense_variant False HEYL@p.K45N 1 0.155339806 ENSG00000163909 chr1:39632661-39632661;C/A missense_variant False HEY2@p.A161T 1 0.301369863 ENSG00000135547 chr6:125759269-125759269;G/A missense_variant False HGF@p.M684I 1 0.268041237 ENSG00000019991 chr7:81702716-81702716;C/T missense_variant False HEY1@p.S34L 1 0.063241107 ENSG00000164683 chr8:79767283-79767283;G/A missense_variant False HEXIM2@p.E130D 1 0.193548387 ENSG00000168517 chr17:45169338-45169338;G/C missense_variant False HEXIM1@p.S268L 1 0.357142857 ENSG00000186834 chr17:45149993-45149993;C/T missense_variant False HEXIM1@p.R351Q 1 0.201834862 ENSG00000186834 chr17:45150242-45150242;G/A missense_variant False HEXIM1@p.R185Q 1 0.472222222 ENSG00000186834 chr17:45149744-45149744;G/A missense_variant False HEXIM1@p.Q75E 1 0.138888889 ENSG00000186834 chr17:45149413-45149413;C/G missense_variant False HFM1@p.I193T 1 0.368421053 ENSG00000162669 chr1:91385751-91385751;A/G missense_variant False HFM1@p.I872M 1 0.611111111 ENSG00000162669 chr1:91319357-91319357;T/C missense_variant False HFM1@p.L1072V 1 0.222222222 ENSG00000162669 chr1:91313987-91313987;G/C missense_variant False HFM1@p.L928P 1 0.756756757 ENSG00000162669 chr1:91319107-91319107;A/G missense_variant False HFM1@p.P871S 1 0.228070175 ENSG00000162669 chr1:91319362-91319362;G/A missense_variant False HFM1@p.Q1198H 1 0.230769231 ENSG00000162669 chr1:91274804-91274804;C/G missense_variant False HFM1@p.Q126E 1 0.49122807 ENSG00000162669 chr1:91394211-91394211;G/C missense_variant False HFM1@p.S1120L 1 0.051724138 ENSG00000162669 chr1:91313381-91313381;G/A missense_variant False HFM1@p.S631C 1 0.149425287 ENSG00000162669 chr1:91352591-91352591;G/C missense_variant False HFM1@p.T1105A 1 0.414893617 ENSG00000162669 chr1:91313427-91313427;T/C missense_variant False HFM1@p.T632A 1 0.444444444 ENSG00000162669 chr1:91352589-91352589;T/C missense_variant False HGD@p.E195D 1 0.115107914 ENSG00000113924 chr3:120646331-120646331;C/G missense_variant False HGD@p.S16L 1 0.504504505 ENSG00000113924 chr3:120675832-120675832;G/A missense_variant False HGD@p.Y166H 1 0.459016393 ENSG00000113924 chr3:120647026-120647026;A/G missense_variant False HGF@p.D236N 1 0.081632653 ENSG00000019991 chr7:81745040-81745040;C/T missense_variant False HGF@p.E199V 1 0.144736842 ENSG00000019991 chr7:81752149-81752149;T/A missense_variant False HGF@p.E559D 1 0.245614035 ENSG00000019991 chr7:81706367-81706367;C/G missense_variant False HERC2@p.E1268G 1 0.447761194 ENSG00000128731 chr15:28238163-28238163;T/C missense_variant False HERC2@p.D932V 1 0.16 ENSG00000128731 chr15:28255948-28255948;T/A missense_variant False HERC2@p.D4643H 1 0.268656716 ENSG00000128731 chr15:28113665-28113665;C/G missense_variant False HELQ@p.G275E 1 0.366013072 ENSG00000163312 chr4:83453419-83453419;C/T missense_variant False HELZ2@p.I2468M 1 0.229299363 ENSG00000130589 chr20:63560575-63560575;G/C missense_variant False HELZ2@p.G1659S 1 0.4 ENSG00000130589 chr20:63563847-63563847;C/T missense_variant False HELZ2@p.G1179R 1 0.193548387 ENSG00000130589 chr20:63565287-63565287;C/T missense_variant False HELZ2@p.E1125K 1 0.5 ENSG00000130589 chr20:63565449-63565449;C/T missense_variant False HELZ2@p.A2365G 1 0.177419355 ENSG00000130589 chr20:63561134-63561134;G/C missense_variant False HELT@p.E93Q 1 0.277227723 ENSG00000187821 chr4:185020320-185020320;G/C missense_variant False HELQ@p.E749Q 1 0.34 ENSG00000163312 chr4:83431714-83431714;C/G missense_variant False HELB@p.H329Y 1 0.12345679 ENSG00000127311 chr12:66309913-66309913;C/T missense_variant False HELLS@p.R365C 1 0.065217391 ENSG00000119969 chr10:94581386-94581386;C/T missense_variant False HELLS@p.L42V 1 0.238095238 ENSG00000119969 chr10:94546469-94546469;C/G missense_variant False HELLS@p.K103N 1 0.456521739 ENSG00000119969 chr10:94558171-94558171;A/T missense_variant False HELLS@p.H303Y 1 0.461538462 ENSG00000119969 chr10:94576680-94576680;C/T missense_variant False HELB@p.S722F 1 0.473684211 ENSG00000127311 chr12:66321957-66321957;C/T missense_variant False HELB@p.Q103E 1 0.283333333 ENSG00000127311 chr12:66304850-66304850;C/G missense_variant False HELZ2@p.S2529C 1 0.333333333 ENSG00000130589 chr20:63560242-63560242;G/C missense_variant False HELZ@p.A311V 1 0.388535032 ENSG00000198265 chr17:67188549-67188549;G/A missense_variant False HELZ@p.C48F 1 0.216494845 ENSG00000198265 chr17:67218662-67218662;C/A missense_variant False HELZ@p.D1308N 1 0.138888889 ENSG00000198265 chr17:67109683-67109683;C/T missense_variant False HELZ@p.E1090K 1 0.314285714 ENSG00000198265 chr17:67128770-67128770;C/T missense_variant False HELZ@p.E1596K 1 0.091346154 ENSG00000198265 chr17:67107624-67107624;C/T missense_variant False HELZ@p.E227K 1 0.450549451 ENSG00000198265 chr17:67190234-67190234;C/T missense_variant False HELZ@p.E556K 1 0.141176471 ENSG00000198265 chr17:67167561-67167561;C/T missense_variant False HELZ@p.E878Q 1 0.328125 ENSG00000198265 chr17:67145880-67145880;C/G missense_variant False HELZ@p.G191E 1 0.341121495 ENSG00000198265 chr17:67190341-67190341;C/T missense_variant False HELZ@p.G907E 1 0.153846154 ENSG00000198265 chr17:67145792-67145792;C/T missense_variant False HELZ@p.H604L 1 0.045454545 ENSG00000198265 chr17:67166562-67166562;T/A missense_variant False HELZ@p.I1641V 1 0.72392638 ENSG00000198265 chr17:67107489-67107489;T/C missense_variant False HELZ@p.L1168V 1 0.402439024 ENSG00000198265 chr17:67123098-67123098;G/C missense_variant False HELZ@p.P1322A 1 0.421875 ENSG00000198265 chr17:67109641-67109641;G/C missense_variant False HELZ@p.Q546H 1 0.293577982 ENSG00000198265 chr17:67167589-67167589;C/G missense_variant False HELZ@p.Q755E 1 0.178947368 ENSG00000198265 chr17:67151139-67151139;G/C missense_variant False HELB@p.N316D 1 0.178571429 ENSG00000127311 chr12:66309874-66309874;A/G missense_variant False HELB@p.E413Q 1 0.156716418 ENSG00000127311 chr12:66310165-66310165;G/C missense_variant False HELZ@p.R134T 1 0.064516129 ENSG00000198265 chr17:67201157-67201157;C/G missense_variant False HECW1@p.R1255S 1 0.245614035 ENSG00000002746 chr7:43508028-43508028;C/A missense_variant False HECW2@p.E39K 1 0.139534884 ENSG00000138411 chr2:196433309-196433309;C/T missense_variant False HECW2@p.D996N 1 0.244094488 ENSG00000138411 chr2:196292579-196292579;C/T missense_variant False HECW2@p.D827H 1 0.161290323 ENSG00000138411 chr2:196308041-196308041;C/G missense_variant False HECW2@p.D1049Y 1 0.384615385 ENSG00000138411 chr2:196274114-196274114;C/A missense_variant False HECW1@p.V1120A 1 0.194805195 ENSG00000002746 chr7:43493102-43493102;T/C missense_variant False HECW1@p.R718H 1 0.309090909 ENSG00000002746 chr7:43445325-43445325;G/A missense_variant False HECW1@p.R1255C 1 0.0625 ENSG00000002746 chr7:43508028-43508028;C/T missense_variant False HELB@p.D846N 1 0.260273973 ENSG00000127311 chr12:66324992-66324992;G/A missense_variant False HECW1@p.R1225T 1 0.333333333 ENSG00000002746 chr7:43507179-43507179;G/C missense_variant False HECW1@p.R1103Q 1 0.151162791 ENSG00000002746 chr7:43492148-43492148;G/A missense_variant False HECW1@p.R1086T 1 0.12745098 ENSG00000002746 chr7:43492097-43492097;G/C missense_variant False HECW1@p.L566V 1 0.15 ENSG00000002746 chr7:43444868-43444868;C/G missense_variant False HECW1@p.H137Y 1 0.561797753 ENSG00000002746 chr7:43320691-43320691;C/T missense_variant False HECW1@p.G666R 1 0.132653061 ENSG00000002746 chr7:43445168-43445168;G/A missense_variant False HECW2@p.F1267S 1 0.21875 ENSG00000138411 chr2:196228219-196228219;A/G missense_variant False HECW2@p.F1373L 1 0.909090909 ENSG00000138411 chr2:196222238-196222238;G/T missense_variant False HECW2@p.L1349R 1 0.166666667 ENSG00000138411 chr2:196222311-196222311;A/C missense_variant False HECW2@p.S1110L 1 0.171428571 ENSG00000138411 chr2:196271199-196271199;G/A missense_variant False HECW2@p.S909F 1 0.314285714 ENSG00000138411 chr2:196306576-196306576;G/A missense_variant False HECW2@p.T234A 1 0.166666667 ENSG00000138411 chr2:196325021-196325021;T/C missense_variant False HECW2@p.T778S 1 0.526315789 ENSG00000138411 chr2:196318558-196318558;T/A missense_variant False HECW2@p.W123L 1 0.081081081 ENSG00000138411 chr2:196343689-196343689;C/A missense_variant False HEG1@p.E165K 1 0.083333333 ENSG00000173706 chr3:125029312-125029312;C/T missense_variant False HEG1@p.G496R 1 0.284974093 ENSG00000173706 chr3:125019364-125019364;C/G missense_variant False HEG1@p.H209Y 1 0.166666667 ENSG00000173706 chr3:125027493-125027493;G/A missense_variant False HEG1@p.K1050E 1 0.15 ENSG00000173706 chr3:125009750-125009750;T/C missense_variant False HEG1@p.Q128L 1 0.123893805 ENSG00000173706 chr3:125029422-125029422;T/A missense_variant False HEG1@p.S147F 1 0.303030303 ENSG00000173706 chr3:125029365-125029365;G/A missense_variant False HEG1@p.S363C 1 0.245614035 ENSG00000173706 chr3:125020956-125020956;G/C missense_variant False HEG1@p.S690L 1 0.4 ENSG00000173706 chr3:125013510-125013510;G/A missense_variant False HEG1@p.T273M 1 0.222222222 ENSG00000173706 chr3:125027300-125027300;G/A missense_variant False HELZ@p.R1160T 1 0.276923077 ENSG00000198265 chr17:67123121-67123121;C/G missense_variant False HELZ@p.R96W 1 0.289719626 ENSG00000198265 chr17:67203405-67203405;G/A missense_variant False HERC2@p.D3899H 1 0.272727273 ENSG00000128731 chr15:28142243-28142243;C/G missense_variant False HERC1@p.E1524K 1 0.291666667 ENSG00000103657 chr15:63712789-63712789;C/T missense_variant False HERC1@p.H2858Y 1 0.321428571 ENSG00000103657 chr15:63664578-63664578;G/A missense_variant False HERC1@p.G4159E 1 0.393939394 ENSG00000103657 chr15:63634827-63634827;C/T missense_variant False HERC1@p.G3517E 1 0.2 ENSG00000103657 chr15:63649922-63649922;C/T missense_variant False HERC1@p.G1698V 1 0.461538462 ENSG00000103657 chr15:63696152-63696152;C/A missense_variant False HERC1@p.E4619K 1 0.301204819 ENSG00000103657 chr15:63616516-63616516;C/T missense_variant False HERC1@p.E3211Q 1 0.181818182 ENSG00000103657 chr15:63656327-63656327;C/G missense_variant False HERC1@p.E1495Q 1 0.275862069 ENSG00000103657 chr15:63712876-63712876;C/G missense_variant False HEPHL1@p.T1062I 1 0.2 ENSG00000181333 chr11:94111042-94111042;C/T missense_variant False HERC1@p.D3977H 1 0.044982699 ENSG00000103657 chr15:63638749-63638749;C/G missense_variant False HERC1@p.D358N 1 0.15 ENSG00000103657 chr15:63758324-63758324;C/T missense_variant False HERC1@p.D3344H 1 0.5 ENSG00000103657 chr15:63655796-63655796;C/G missense_variant False HERC1@p.D240H 1 0.339285714 ENSG00000103657 chr15:63774906-63774906;C/G missense_variant False HERC1@p.A4130S 1 0.157509158 ENSG00000103657 chr15:63635987-63635987;C/A missense_variant False HEPN1@p.E64K 1 0.378378378 ENSG00000221932 chr11:124919940-124919940;G/A missense_variant False HERC1@p.H3871Y 1 0.205882353 ENSG00000103657 chr15:63640442-63640442;G/A missense_variant False HERC1@p.K4343E 1 0.101449275 ENSG00000103657 chr15:63628755-63628755;T/C missense_variant False HERC1@p.N800H 1 0.545454545 ENSG00000103657 chr15:63747040-63747040;T/G missense_variant False HERC1@p.P4445H 1 0.289719626 ENSG00000103657 chr15:63624269-63624269;G/T missense_variant False HERC1@p.R2322P 1 0.25984252 ENSG00000103657 chr15:63677950-63677950;C/G missense_variant False HERC1@p.R3192K 1 0.243243243 ENSG00000103657 chr15:63658568-63658568;C/T missense_variant False HERC1@p.R3250Q 1 0.538461538 ENSG00000103657 chr15:63656209-63656209;C/T missense_variant False HERC1@p.R4015I 1 0.160493827 ENSG00000103657 chr15:63638460-63638460;C/A missense_variant False HERC1@p.R4510Q 1 0.4375 ENSG00000103657 chr15:63623807-63623807;C/T missense_variant False HERC1@p.S2344F 1 0.303333333 ENSG00000103657 chr15:63677884-63677884;G/A missense_variant False HERC1@p.S2459L 1 0.081632653 ENSG00000103657 chr15:63674812-63674812;G/A missense_variant False HERC1@p.S3775C 1 0.2 ENSG00000103657 chr15:63643411-63643411;G/C missense_variant False HERC1@p.T1493P 1 0.44 ENSG00000103657 chr15:63712882-63712882;T/G missense_variant False HERC1@p.T4328A 1 0.290816327 ENSG00000103657 chr15:63628800-63628800;T/C missense_variant False HERC1@p.T474M 1 0.507462687 ENSG00000103657 chr15:63756549-63756549;G/A missense_variant False HERC1@p.V3299A 1 0.15 ENSG00000103657 chr15:63655930-63655930;A/G missense_variant False HERC2@p.A3343V 1 0.142857143 ENSG00000128731 chr15:28174424-28174424;G/A missense_variant False HEPHL1@p.T83M 1 0.234042553 ENSG00000181333 chr11:94045750-94045750;C/T missense_variant False HEPHL1@p.S121Y 1 0.444444444 ENSG00000181333 chr11:94045864-94045864;C/A missense_variant False HELZ@p.S1764Y 1 0.2 ENSG00000198265 chr17:67087032-67087032;G/T missense_variant False HEPACAM2@p.H42Mfs*43 1 0.233333333 ENSG00000188175 chr7:93219407-93219407;G/- frameshift_variant False HEPH@p.E930K 1 0.317073171 ENSG00000089472 chrX:66256222-66256222;G/A missense_variant False HEPH@p.E133K 1 0.919354839 ENSG00000089472 chrX:66172584-66172584;G/A missense_variant False HEPH@p.D83N 1 0.340909091 ENSG00000089472 chrX:66172434-66172434;G/A missense_variant False HEPACAM@p.S239N 1 0.322580645 ENSG00000165478 chr11:124923427-124923427;C/T missense_variant False HEPACAM2@p.R72S 1 0.326530612 ENSG00000188175 chr7:93219315-93219315;T/A missense_variant False HEPACAM2@p.I126F 1 0.222222222 ENSG00000188175 chr7:93219155-93219155;T/A missense_variant False HEPACAM2@p.E403Q 1 0.221238938 ENSG00000188175 chr7:93195896-93195896;C/G missense_variant False HEPHL1@p.R423I 1 0.451612903 ENSG00000181333 chr11:94073060-94073060;G/T missense_variant False HENMT1@p.S139L 1 0.181818182 ENSG00000162639 chr1:108651192-108651192;G/A missense_variant False HENMT1@p.P172A 1 0.205128205 ENSG00000162639 chr1:108651094-108651094;G/C missense_variant False HENMT1@p.H112Y 1 0.405797101 ENSG00000162639 chr1:108654780-108654780;G/A missense_variant False HEMGN@p.E387K 1 0.300847458 ENSG00000136929 chr9:97930236-97930236;C/T missense_variant False HEMGN@p.E369Q 1 0.285714286 ENSG00000136929 chr9:97930290-97930290;C/G missense_variant False HELZ@p.V128A 1 0.446428571 ENSG00000198265 chr17:67201175-67201175;A/G missense_variant False HEPH@p.F540L 1 0.297297297 ENSG00000089472 chrX:66197801-66197801;C/G missense_variant False HEPH@p.G1055V 1 0.0625 ENSG00000089472 chrX:66260227-66260227;G/T missense_variant False HEPH@p.L52V 1 0.428571429 ENSG00000089472 chrX:66170724-66170724;C/G missense_variant False HEPH@p.P327T 1 0.444444444 ENSG00000089472 chrX:66189854-66189854;C/A missense_variant False HEPH@p.R798Q 1 0.823529412 ENSG00000089472 chrX:66207296-66207296;G/A missense_variant False HEPH@p.S481N 1 0.222222222 ENSG00000089472 chrX:66195170-66195170;G/A missense_variant False HEPH@p.V470M 1 0.533333333 ENSG00000089472 chrX:66195136-66195136;G/A missense_variant False HEPHL1@p.A739T 1 0.358490566 ENSG00000181333 chr11:94088889-94088889;G/A missense_variant False HEPHL1@p.E1036K 1 0.416666667 ENSG00000181333 chr11:94110963-94110963;G/A missense_variant False HEPHL1@p.E524K 1 0.351351351 ENSG00000181333 chr11:94075239-94075239;G/A missense_variant False HEPHL1@p.F308L 1 0.243697479 ENSG00000181333 chr11:94067611-94067611;C/G missense_variant False HEPHL1@p.G145E 1 0.5 ENSG00000181333 chr11:94063526-94063526;G/A missense_variant False HEPHL1@p.H1008D 1 0.24691358 ENSG00000181333 chr11:94106107-94106107;C/G missense_variant False HEPHL1@p.K117N 1 0.184210526 ENSG00000181333 chr11:94045853-94045853;G/C missense_variant False HEPHL1@p.L978F 1 0.26 ENSG00000181333 chr11:94106017-94106017;C/T missense_variant False HEPHL1@p.P534T 1 0.555555556 ENSG00000181333 chr11:94075269-94075269;C/A missense_variant False HEPHL1@p.Q712E 1 0.314814815 ENSG00000181333 chr11:94088808-94088808;C/G missense_variant False GPR31@p.R315T 1 0.579710145 ENSG00000120436 chr6:167156888-167156888;C/G missense_variant False GPR31@p.A130V 1 0.125 ENSG00000120436 chr6:167157443-167157443;G/A missense_variant False GPR22@p.M82I 1 0.383116883 ENSG00000172209 chr7:107474306-107474306;G/T missense_variant False GALNT6@p.S463L 1 0.460526316 ENSG00000139629 chr12:51358242-51358242;G/A missense_variant False GALNT8@p.W128C 1 0.476923077 ENSG00000130035 chr12:4726704-4726704;G/T missense_variant False GALNT8@p.R251W 1 0.410958904 ENSG00000130035 chr12:4744591-4744591;C/T missense_variant False GALNT7@p.R616K 1 0.339622642 ENSG00000109586 chr4:173321590-173321590;G/A missense_variant False GALNT7@p.L113V 1 0.44 ENSG00000109586 chr4:173248190-173248190;C/G missense_variant False GALNT7@p.I8M 1 0.214285714 ENSG00000109586 chr4:173168859-173168859;C/G missense_variant False GALNT7@p.G566V 1 0.213114754 ENSG00000109586 chr4:173317722-173317722;G/T missense_variant False GALNT6@p.P76A 1 0.315789474 ENSG00000139629 chr12:51379556-51379556;G/C missense_variant False GALNTL5@p.E231K 1 0.481481481 ENSG00000106648 chr7:152002746-152002746;G/A missense_variant False GALNT6@p.G564R 1 0.301369863 ENSG00000139629 chr12:51355871-51355871;C/G missense_variant False GALNT6@p.E307Q 1 0.137931034 ENSG00000139629 chr12:51364251-51364251;C/G missense_variant False GALNT5@p.S402C 1 0.282051282 ENSG00000136542 chr2:157259287-157259287;C/G missense_variant False GALNT5@p.S318F 1 0.244444444 ENSG00000136542 chr2:157259035-157259035;C/T missense_variant False GALNT5@p.Q843P 1 0.316546763 ENSG00000136542 chr2:157308574-157308574;A/C missense_variant False GALNT5@p.P279L 1 0.230769231 ENSG00000136542 chr2:157258918-157258918;C/T missense_variant False GALNTL5@p.E145K 1 0.205882353 ENSG00000106648 chr7:151983050-151983050;G/A missense_variant False GALNTL5@p.I361M 1 0.198113208 ENSG00000106648 chr7:152014700-152014700;C/G missense_variant False GART@p.Q745R 1 0.349869452 ENSG00000159131 chr21:33511332-33511332;T/C missense_variant False GALNTL6@p.R66T 1 0.191489362 ENSG00000174473 chr4:172229714-172229714;G/C missense_variant False GALR1@p.A313D 1 0.240963855 ENSG00000166573 chr18:77268790-77268790;C/A missense_variant False GALR1@p.A221V 1 0.150537634 ENSG00000166573 chr18:77251210-77251210;C/T missense_variant False GALP@p.D56Y 1 0.508474576 ENSG00000197487 chr19:56182201-56182201;G/T missense_variant False GALP@p.A71D 1 0.125 ENSG00000197487 chr19:56182247-56182247;C/A missense_variant False GALNTL6@p.S577F 1 0.175824176 ENSG00000174473 chr4:173040024-173040024;C/T missense_variant False GALNTL6@p.S411P 1 0.386363636 ENSG00000174473 chr4:172952118-172952118;T/C missense_variant False GALNTL6@p.R197P 1 0.396694215 ENSG00000174473 chr4:172809397-172809397;G/C missense_variant False GALNTL5@p.P134R 1 0.15503876 ENSG00000106648 chr7:151983018-151983018;C/G missense_variant False GALNTL6@p.E73K 1 0.142857143 ENSG00000174473 chr4:172229734-172229734;G/A missense_variant False GALNTL6@p.D574N 1 0.234042553 ENSG00000174473 chr4:173040014-173040014;G/A missense_variant False GALNTL6@p.D302H 1 0.117647059 ENSG00000174473 chr4:172813704-172813704;G/C missense_variant False GALNTL6@p.D180N 1 0.097222222 ENSG00000174473 chr4:172348674-172348674;G/A missense_variant False GALNTL5@p.R334T 1 0.117647059 ENSG00000106648 chr7:152007919-152007919;G/C missense_variant False GALNTL5@p.R315H 1 0.428571429 ENSG00000106648 chr7:152007862-152007862;G/A missense_variant False GALNT5@p.L288S 1 0.069767442 ENSG00000136542 chr2:157258945-157258945;T/C missense_variant False GALNT5@p.F57_G64del 1 0.209150327 ENSG00000136542 chr2:157258247-157258270;AGGATTCAGAGTTCAGCCAGACCA/- inframe_deletion False GALNT5@p.E893Q 1 0.2875 ENSG00000136542 chr2:157308723-157308723;G/C missense_variant False GALNT17@p.L343V 1 0.056701031 ENSG00000185274 chr7:71571349-71571349;C/G missense_variant False GALNT17@p.W297L 1 0.376146789 ENSG00000185274 chr7:71421033-71421033;G/T missense_variant False GALNT17@p.V201I 1 0.25 ENSG00000185274 chr7:71415900-71415900;G/A missense_variant False GALNT17@p.R503G 1 0.305555556 ENSG00000185274 chr7:71710767-71710767;C/G missense_variant False GALNT17@p.R381W 1 0.393442623 ENSG00000185274 chr7:71665471-71665471;C/T missense_variant False GALNT17@p.R375Q 1 0.066666667 ENSG00000185274 chr7:71665454-71665454;G/A missense_variant False GALNT17@p.P316H 1 0.090909091 ENSG00000185274 chr7:71421090-71421090;C/A missense_variant False GALNT17@p.E298K 1 0.392857143 ENSG00000185274 chr7:71421035-71421035;G/A missense_variant False GALNT3@p.S421N 1 0.446428571 ENSG00000115339 chr2:165757177-165757177;C/T missense_variant False GALNT16@p.R46_S47del 1 0.454545455 ENSG00000100626 chr14:69260425-69260430;GAGGTC/- inframe_deletion False GALNT15@p.R10K 1 0.11627907 ENSG00000131386 chr3:16175180-16175180;G/A missense_variant False GALNT15@p.P411T 1 0.323529412 ENSG00000131386 chr3:16212602-16212602;C/A missense_variant False GALNT15@p.K132N 1 0.205128205 ENSG00000131386 chr3:16175547-16175547;G/C missense_variant False GALNT15@p.G622V 1 0.425925926 ENSG00000131386 chr3:16227445-16227445;G/T missense_variant False GALNT15@p.G24A 1 0.126582278 ENSG00000131386 chr3:16175222-16175222;G/C missense_variant False GALNT18@p.K269M 1 0.256756757 ENSG00000110328 chr11:11377353-11377353;T/A missense_variant False GALNT18@p.R180C 1 0.192307692 ENSG00000110328 chr11:11432678-11432678;G/A missense_variant False GALNT1@p.D314H 1 0.186666667 ENSG00000141429 chr18:35689252-35689252;G/C missense_variant False GALNT1@p.D484N 1 0.339130435 ENSG00000141429 chr18:35703560-35703560;G/A missense_variant False GALNT1@p.D531N 1 0.142857143 ENSG00000141429 chr18:35709681-35709681;G/A missense_variant False GALNT1@p.H55Y 1 0.516129032 ENSG00000141429 chr18:35663651-35663651;C/T missense_variant False GALNT1@p.S385Y 1 0.430769231 ENSG00000141429 chr18:35691187-35691187;C/A missense_variant False GALNT2@p.E391K 1 0.353846154 ENSG00000143641 chr1:230262607-230262607;G/A missense_variant False GALNT2@p.E63Q 1 0.153846154 ENSG00000143641 chr1:230178278-230178278;G/C missense_variant False GALNT2@p.F395L 1 0.31300813 ENSG00000143641 chr1:230262621-230262621;C/G missense_variant False GALNT2@p.H462Q 1 0.473333333 ENSG00000143641 chr1:230265313-230265313;C/A missense_variant False GALNT2@p.R210W 1 0.288135593 ENSG00000143641 chr1:230243326-230243326;C/T missense_variant False GALNT2@p.R293W 1 0.315315315 ENSG00000143641 chr1:230249243-230249243;C/T missense_variant False GALNT2@p.Y396D 1 0.305882353 ENSG00000143641 chr1:230262622-230262622;T/G missense_variant False GALNT3@p.C574F 1 0.252252252 ENSG00000115339 chr2:165749800-165749800;C/A missense_variant False GALNT3@p.D163H 1 0.142857143 ENSG00000115339 chr2:165770214-165770214;C/G missense_variant False GALNT3@p.I294V 1 0.181818182 ENSG00000115339 chr2:165759529-165759529;T/C missense_variant False GALR1@p.F177L 1 0.25 ENSG00000166573 chr18:77251077-77251077;T/C missense_variant False GALR2@p.A83V 1 0.116504854 ENSG00000182687 chr17:76075131-76075131;C/T missense_variant False GALR2@p.L257F 1 0.066666667 ENSG00000182687 chr17:76077036-76077036;C/T missense_variant False GAREM1@p.H73Y 1 0.235294118 ENSG00000141441 chr18:32392940-32392940;G/A missense_variant False GARNL3@p.N619S 1 0.053619303 ENSG00000136895 chr9:127355393-127355393;A/G missense_variant False GARNL3@p.M321I 1 0.378378378 ENSG00000136895 chr9:127336217-127336217;G/T missense_variant False GARNL3@p.I724M 1 0.564102564 ENSG00000136895 chr9:127383448-127383448;C/G missense_variant False GARNL3@p.G920V 1 0.544444444 ENSG00000136895 chr9:127390656-127390656;G/T missense_variant False GARNL3@p.E480K 1 0.176470588 ENSG00000136895 chr9:127348930-127348930;G/A missense_variant False GARNL3@p.D651Y 1 0.1 ENSG00000136895 chr9:127357234-127357234;G/T missense_variant False GAREM1@p.H367L 1 0.43902439 ENSG00000141441 chr18:32287497-32287497;T/A missense_variant False GAPVD1@p.E592Q 1 0.237623762 ENSG00000165219 chr9:125323839-125323839;G/C missense_variant False GAREM1@p.E400K 1 0.115384615 ENSG00000141441 chr18:32287399-32287399;C/T missense_variant False GAREM1@p.D749N 1 0.292134831 ENSG00000141441 chr18:32268257-32268257;C/T missense_variant False GAREM1@p.D419N 1 0.12 ENSG00000141441 chr18:32287342-32287342;C/T missense_variant False GAREM1@p.A414V 1 0.363636364 ENSG00000141441 chr18:32287356-32287356;G/A missense_variant False GAR1@p.Q142L 1 0.407407407 ENSG00000109534 chr4:109819056-109819056;A/T missense_variant False GAPVD1@p.P471L 1 0.566037736 ENSG00000165219 chr9:125307851-125307851;C/T missense_variant False GARNL3@p.P653T 1 0.395833333 ENSG00000136895 chr9:127357240-127357240;C/A missense_variant False GARNL3@p.P761L 1 0.265306122 ENSG00000136895 chr9:127385039-127385039;C/T missense_variant False GARNL3@p.S128F 1 0.375 ENSG00000136895 chr9:127313504-127313504;C/T missense_variant False GARNL3@p.Y155C 1 0.246753247 ENSG00000136895 chr9:127318088-127318088;A/G missense_variant False GARNL3@p.Y719C 1 0.284615385 ENSG00000136895 chr9:127365361-127365361;A/G missense_variant False GARRE1@p.A518D 1 0.475409836 ENSG00000166398 chr19:34341487-34341487;C/A missense_variant False GARRE1@p.P957T 1 0.038888889 ENSG00000166398 chr19:34351557-34351557;C/A missense_variant False GARRE1@p.R328K 1 0.409395973 ENSG00000166398 chr19:34328030-34328030;G/A missense_variant False GARRE1@p.R701W 1 0.09009009 ENSG00000166398 chr19:34342035-34342035;C/T missense_variant False GARRE1@p.S1006R 1 0.291666667 ENSG00000166398 chr19:34352758-34352758;A/C missense_variant False GARS1@p.D247H 1 0.339563863 ENSG00000106105 chr7:30609588-30609588;G/C missense_variant False GARS1@p.E234K 1 0.203389831 ENSG00000106105 chr7:30603537-30603537;G/A missense_variant False GARS1@p.E238K 1 0.305084746 ENSG00000106105 chr7:30603549-30603549;G/A missense_variant False GARS1@p.E730Q 1 0.183098592 ENSG00000106105 chr7:30633828-30633828;G/C missense_variant False GART@p.D308N 1 0.108108108 ENSG00000159131 chr21:33528311-33528311;C/T missense_variant False GART@p.D347H 1 0.346153846 ENSG00000159131 chr21:33528194-33528194;C/G missense_variant False GART@p.E607K 1 0.279069767 ENSG00000159131 chr21:33517492-33517492;C/T missense_variant False GAPVD1@p.K1175N 1 0.375 ENSG00000165219 chr9:125350774-125350774;G/C missense_variant False GAPVD1@p.E513Q 1 0.405172414 ENSG00000165219 chr9:125312547-125312547;G/C missense_variant False GALR2@p.M237I 1 0.571428571 ENSG00000182687 chr17:76076978-76076978;G/A missense_variant False GANAB@p.F604L 1 0.238095238 ENSG00000089597 chr11:62629610-62629610;G/C missense_variant False GANC@p.L336P 1 0.125 ENSG00000214013 chr15:42310796-42310796;T/C missense_variant False GANAB@p.S129C 1 0.173469388 ENSG00000089597 chr11:62634995-62634995;G/C missense_variant False GANAB@p.R164Q 1 0.411764706 ENSG00000089597 chr11:62634890-62634890;C/T missense_variant False GANAB@p.P811L 1 0.173913043 ENSG00000089597 chr11:62626650-62626650;G/A missense_variant False GANAB@p.M823I 1 0.277777778 ENSG00000089597 chr11:62626613-62626613;C/T missense_variant False GANAB@p.M543I 1 0.181818182 ENSG00000089597 chr11:62629922-62629922;C/T missense_variant False GANAB@p.E213K 1 0.036649215 ENSG00000089597 chr11:62633265-62633265;C/T missense_variant False GAPVD1@p.E212K 1 0.32 ENSG00000165219 chr9:125302431-125302431;G/A missense_variant False GANAB@p.D122N 1 0.416666667 ENSG00000089597 chr11:62638999-62638999;C/T missense_variant False GAN@p.R479C 1 0.440366972 ENSG00000261609 chr16:81365411-81365411;C/T missense_variant False GAN@p.R232Q 1 0.5 ENSG00000261609 chr16:81356846-81356846;G/A missense_variant False GAN@p.E3K 1 0.428571429 ENSG00000261609 chr16:81315120-81315120;G/A missense_variant False GALT@p.H114Y 1 0.157894737 ENSG00000213930 chr9:34647668-34647668;C/T missense_variant False GALR2@p.R274C 1 0.421052632 ENSG00000182687 chr17:76077087-76077087;C/T missense_variant False GANC@p.Q848H 1 0.481012658 ENSG00000214013 chr15:42351341-42351341;G/C missense_variant False GANC@p.R671T 1 0.117647059 ENSG00000214013 chr15:42339837-42339837;G/C missense_variant False GANC@p.S113L 1 0.281553398 ENSG00000214013 chr15:42292743-42292743;C/T missense_variant False GAP43@p.A187Lfs*23 1 0.263157895 ENSG00000172020 chr3:115676541-115676541;G/- frameshift_variant False GAP43@p.E185Q 1 0.548387097 ENSG00000172020 chr3:115676535-115676535;G/C missense_variant False GAP43@p.E207K 1 0.294117647 ENSG00000172020 chr3:115676601-115676601;G/A missense_variant False GAPDH@p.G298W 1 0.159090909 ENSG00000111640 chr12:6537950-6537950;G/T missense_variant False GAPDH@p.I14V 1 0.135338346 ENSG00000111640 chr12:6536504-6536504;A/G missense_variant False GAPDH@p.K55E 1 0.073170732 ENSG00000111640 chr12:6536717-6536717;A/G missense_variant False GAPDHS@p.D5N 1 0.24137931 ENSG00000105679 chr19:35533540-35533540;G/A missense_variant False GAPDHS@p.N81S 1 0.440298507 ENSG00000105679 chr19:35536987-35536987;A/G missense_variant False GAPT@p.F120L 1 0.185714286 ENSG00000175857 chr5:58494894-58494894;T/C missense_variant False GAPT@p.G126A 1 0.08490566 ENSG00000175857 chr5:58494913-58494913;G/C missense_variant False GAPT@p.H90D 1 0.146341463 ENSG00000175857 chr5:58494804-58494804;C/G missense_variant False GAPT@p.S118C 1 0.125984252 ENSG00000175857 chr5:58494889-58494889;C/G missense_variant False GAPVD1@p.E1090K 1 0.237804878 ENSG00000165219 chr9:125349434-125349434;G/A missense_variant False GAPVD1@p.E1413K 1 0.455357143 ENSG00000165219 chr9:125360666-125360666;G/A missense_variant False GALNT15@p.E442K 1 0.205479452 ENSG00000131386 chr3:16212695-16212695;G/A missense_variant False GALNT15@p.E395K 1 0.492753623 ENSG00000131386 chr3:16211227-16211227;G/A missense_variant False GALNT15@p.A137T 1 0.211267606 ENSG00000131386 chr3:16175560-16175560;G/A missense_variant False GABRG1@p.Q237E 1 0.189473684 ENSG00000163285 chr4:46058539-46058539;G/C missense_variant False GABRG2@p.T435A 1 0.224299065 ENSG00000113327 chr5:162153147-162153147;A/G missense_variant False GABRG2@p.R255H 1 0.275862069 ENSG00000113327 chr5:162103901-162103901;G/A missense_variant False GABRG2@p.P405S 1 0.451327434 ENSG00000113327 chr5:162149278-162149278;C/T missense_variant False GABRG1@p.T252M 1 0.232142857 ENSG00000163285 chr4:46058493-46058493;G/A missense_variant False GABRG1@p.S224F 1 0.181818182 ENSG00000163285 chr4:46058577-46058577;G/A missense_variant False GABRG1@p.R444I 1 0.166666667 ENSG00000163285 chr4:46041055-46041055;C/A missense_variant False GABRG1@p.K438N 1 0.147058824 ENSG00000163285 chr4:46041072-46041072;T/A missense_variant False GABRE@p.L142V 1 0.068965517 ENSG00000102287 chrX:151962562-151962562;G/C missense_variant False GABRG1@p.F264Lfs*3 1 0.24 ENSG00000163285 chr4:46058341-46058341;A/- frameshift_variant False GABRG1@p.E45V 1 0.085714286 ENSG00000163285 chr4:46097320-46097320;T/A missense_variant False GABRG1@p.D41N 1 0.491803279 ENSG00000163285 chr4:46097333-46097333;C/T missense_variant False GABRG1@p.A346V 1 0.258064516 ENSG00000163285 chr4:46051518-46051518;G/A missense_variant False GABRE@p.S316C 1 0.2 ENSG00000102287 chrX:151955558-151955558;G/C missense_variant False GABRE@p.S27L 1 0.654205607 ENSG00000102287 chrX:151970379-151970379;G/A missense_variant False GABRG2@p.V304A 1 0.146341463 ENSG00000113327 chr5:162142185-162142185;T/C missense_variant False GABRG3@p.C343Y 1 0.413793103 ENSG00000182256 chr15:27527595-27527595;G/A missense_variant False GABRG3@p.I258F 1 0.352941176 ENSG00000182256 chr15:27520031-27520031;A/T missense_variant False GABRG3@p.M113I 1 0.202453988 ENSG00000182256 chr15:27326877-27326877;G/A missense_variant False GABRG3@p.T235M 1 0.222222222 ENSG00000182256 chr15:27480779-27480779;C/T missense_variant False GABRP@p.E372K 1 0.21875 ENSG00000094755 chr5:170812049-170812049;G/A missense_variant False GABRP@p.Q62H 1 0.120967742 ENSG00000094755 chr5:170794244-170794244;G/C missense_variant False GABRQ@p.A406P 1 0.45631068 ENSG00000268089 chrX:152652598-152652598;G/C missense_variant False GABRQ@p.E226K 1 0.859813084 ENSG00000268089 chrX:152649807-152649807;G/A missense_variant False GABRQ@p.E56K 1 0.203703704 ENSG00000268089 chrX:152640394-152640394;G/A missense_variant False GABRQ@p.L504F 1 0.888888889 ENSG00000268089 chrX:152652894-152652894;G/C missense_variant False GABRQ@p.Q232K 1 0.236842105 ENSG00000268089 chrX:152649825-152649825;C/A missense_variant False GABRQ@p.T418M 1 0.326086957 ENSG00000268089 chrX:152652635-152652635;C/T missense_variant False GABRR1@p.I250L 1 0.441717791 ENSG00000146276 chr6:89185358-89185358;T/G missense_variant False GABRR1@p.M448I 1 0.206008584 ENSG00000146276 chr6:89178866-89178866;C/G missense_variant False GABRR1@p.Q441E 1 0.844827586 ENSG00000146276 chr6:89178889-89178889;G/C missense_variant False GABRR1@p.R278C 1 0.429906542 ENSG00000146276 chr6:89182022-89182022;G/A missense_variant False GABRE@p.R73C 1 0.189781022 ENSG00000102287 chrX:151970242-151970242;G/A missense_variant False GABRE@p.G194E 1 0.215686275 ENSG00000102287 chrX:151961348-151961348;C/T missense_variant False GABRR1@p.T73K 1 0.419689119 ENSG00000146276 chr6:89201221-89201221;G/T missense_variant False GABRA6@p.T414I 1 0.733333333 ENSG00000145863 chr5:161701652-161701652;C/T missense_variant False GABRB1@p.R238C 1 0.470588235 ENSG00000163288 chr4:47403588-47403588;C/T missense_variant False GABRB1@p.K439N 1 0.233870968 ENSG00000163288 chr4:47425910-47425910;G/C missense_variant False GABRB1@p.F331L 1 0.545454545 ENSG00000163288 chr4:47406837-47406837;T/C missense_variant False GABRB1@p.D171N 1 0.30952381 ENSG00000163288 chr4:47320176-47320176;G/A missense_variant False GABRB1@p.D164H 1 0.253968254 ENSG00000163288 chr4:47320155-47320155;G/C missense_variant False GABRA6@p.V448L 1 0.171052632 ENSG00000145863 chr5:161701753-161701753;G/C missense_variant False GABRA6@p.F163V 1 0.212598425 ENSG00000145863 chr5:161689294-161689294;T/G missense_variant False GABRE@p.F270L 1 0.963414634 ENSG00000102287 chrX:151955837-151955837;A/G missense_variant False GABRA5@p.T231M 1 0.196428571 ENSG00000186297 chr15:26937296-26937296;C/T missense_variant False GABRA5@p.P434S 1 0.15625 ENSG00000186297 chr15:26948144-26948144;C/T missense_variant False GABRA5@p.P34S 1 0.353846154 ENSG00000186297 chr15:26880859-26880859;C/T missense_variant False GABRA5@p.M382V 1 0.5 ENSG00000186297 chr15:26947988-26947988;A/G missense_variant False GABRA5@p.E337Q 1 0.333333333 ENSG00000186297 chr15:26943346-26943346;G/C missense_variant False GABRA4@p.S511F 1 0.458823529 ENSG00000109158 chr4:46928358-46928358;G/A missense_variant False GABRB2@p.D187G 1 0.557377049 ENSG00000145864 chr5:161336751-161336751;T/C missense_variant False GABRB2@p.D306N 1 0.294416244 ENSG00000145864 chr5:161331044-161331044;C/T missense_variant False GABRB2@p.I254T 1 0.180722892 ENSG00000145864 chr5:161334823-161334823;A/G missense_variant False GABRB2@p.L325P 1 0.184210526 ENSG00000145864 chr5:161330986-161330986;A/G missense_variant False GABRB2@p.R387W 1 0.177083333 ENSG00000145864 chr5:161326400-161326400;G/A missense_variant False GABRB2@p.R470H 1 0.1125 ENSG00000145864 chr5:161294211-161294211;C/T missense_variant False GABRB3@p.F331L 1 0.113207547 ENSG00000166206 chr15:26561019-26561019;G/C missense_variant False GABRB3@p.G244E 1 0.428571429 ENSG00000166206 chr15:26567685-26567685;C/T missense_variant False GABRB3@p.G51E 1 0.109375 ENSG00000166206 chr15:26939285-26939285;C/T missense_variant False GABRB3@p.G7A 1 0.333333333 ENSG00000166206 chr15:26772943-26772943;C/G missense_variant False GABRB3@p.L442V 1 0.455696203 ENSG00000166206 chr15:26547891-26547891;G/C missense_variant False GABRB3@p.R429Q 1 0.714285714 ENSG00000166206 chr15:26547929-26547929;C/T missense_variant False GABRB3@p.T258K 1 0.148148148 ENSG00000166206 chr15:26567643-26567643;G/T missense_variant False GABRB3@p.V223I 1 0.12 ENSG00000166206 chr15:26580334-26580334;C/T missense_variant False GABRD@p.A359S 1 0.074468085 ENSG00000187730 chr1:2029998-2029998;G/T missense_variant False GABRD@p.R145W 1 0.244444444 ENSG00000187730 chr1:2025701-2025701;C/T missense_variant False GABRE@p.D192N 1 0.830508475 ENSG00000102287 chrX:151961355-151961355;C/T missense_variant False GABRR1@p.S334C 1 0.3125 ENSG00000146276 chr6:89180437-89180437;G/C missense_variant False GABRR2@p.R259H 1 0.220338983 ENSG00000111886 chr6:89265726-89265726;C/T missense_variant False GALNT14@p.R7G 1 0.26984127 ENSG00000158089 chr2:31138068-31138068;G/C missense_variant False GAL3ST4@p.S184C 1 0.162162162 ENSG00000197093 chr7:100160838-100160838;G/C missense_variant False GALK1@p.S98L 1 0.171428571 ENSG00000108479 chr17:75763959-75763959;G/A missense_variant False GALK1@p.S271R 1 0.357142857 ENSG00000108479 chr17:75758580-75758580;G/C missense_variant False GALE@p.G111R 1 0.086956522 ENSG00000117308 chr1:23798137-23798137;C/G missense_variant False GALE@p.E165K 1 0.217391304 ENSG00000117308 chr1:23797730-23797730;C/T missense_variant False GALC@p.S9Y 1 0.411764706 ENSG00000054983 chr14:87993139-87993139;G/T missense_variant False GALC@p.R537K 1 0.331081081 ENSG00000054983 chr14:87945613-87945613;C/T missense_variant False GAL3ST4@p.S114F 1 0.132911392 ENSG00000197093 chr7:100166590-100166590;G/A missense_variant False GAL3ST1@p.V180M 1 0.474137931 ENSG00000128242 chr22:30555687-30555687;C/T missense_variant False GAL3ST4@p.R270C 1 0.464788732 ENSG00000197093 chr7:100160581-100160581;G/A missense_variant False GAL3ST4@p.P231S 1 0.156462585 ENSG00000197093 chr7:100160698-100160698;G/A missense_variant False GAL3ST4@p.D316N 1 0.253521127 ENSG00000197093 chr7:100160443-100160443;C/T missense_variant False GAL3ST4@p.D151_S152delinsG 1 0.351648352 ENSG00000197093 chr7:100160935-100160937;TGT/- inframe_deletion False GAL3ST3@p.H90D 1 0.166666667 ENSG00000175229 chr11:66043535-66043535;G/C missense_variant False GAL3ST3@p.E195G 1 0.184210526 ENSG00000175229 chr11:66043219-66043219;T/C missense_variant False GALK2@p.G220E 1 0.071428571 ENSG00000156958 chr15:49283621-49283621;G/A missense_variant False GALM@p.D287N 1 0.310679612 ENSG00000143891 chr2:38731817-38731817;G/A missense_variant False GALM@p.L29F 1 0.1 ENSG00000143891 chr2:38666248-38666248;G/C missense_variant False GALNS@p.E185K 1 0.169491525 ENSG00000141012 chr16:88837635-88837635;C/T missense_variant False GALNS@p.R413K 1 0.089285714 ENSG00000141012 chr16:88824771-88824771;C/T missense_variant False GALNT10@p.A458E 1 0.059210526 ENSG00000164574 chr5:154409749-154409749;C/A missense_variant False GALNT11@p.A318E 1 0.224137931 ENSG00000178234 chr7:152108278-152108278;C/A missense_variant False GALNT11@p.S399F 1 0.389830508 ENSG00000178234 chr7:152113361-152113361;C/T missense_variant False GALNT11@p.S590F 1 0.3 ENSG00000178234 chr7:152121619-152121619;C/T missense_variant False GALNT12@p.H541Y 1 0.760869565 ENSG00000119514 chr9:98848967-98848967;C/T missense_variant False GALNT12@p.I111V 1 0.545454545 ENSG00000119514 chr9:98808029-98808029;A/G missense_variant False GALNT13@p.D69H 1 0.361111111 ENSG00000144278 chr2:154140399-154140399;G/C missense_variant False GALNT13@p.L164F 1 0.315789474 ENSG00000144278 chr2:154242711-154242711;G/C missense_variant False GALNT13@p.R95I 1 0.098039216 ENSG00000144278 chr2:154140478-154140478;G/T missense_variant False GALNT13@p.S411Y 1 0.421052632 ENSG00000144278 chr2:154396066-154396066;C/A missense_variant False GALNT14@p.C202Y 1 0.125 ENSG00000158089 chr2:30955667-30955667;C/T missense_variant False GALNT14@p.E203Q 1 0.115789474 ENSG00000158089 chr2:30955665-30955665;C/G missense_variant False GAL3ST3@p.A178T 1 0.129032258 ENSG00000175229 chr11:66043271-66043271;C/T missense_variant False GAL3ST1@p.S372C 1 0.088888889 ENSG00000128242 chr22:30555110-30555110;G/C missense_variant False GABRR2@p.V16F 1 0.27753304 ENSG00000111886 chr6:89315120-89315120;C/A missense_variant False GAD2@p.A469V 1 0.330097087 ENSG00000136750 chr10:26292484-26292484;C/T missense_variant False GADD45GIP1@p.E110K 1 0.333333333 ENSG00000179271 chr19:12956885-12956885;C/T missense_variant False GADD45G@p.E136Rfs*33 1 0.724137931 ENSG00000130222 chr9:89606004-89606004;G/- frameshift_variant False GAD2@p.Q420K 1 0.139784946 ENSG00000136750 chr10:26286366-26286366;C/A missense_variant False GAD2@p.Q112L 1 0.117647059 ENSG00000136750 chr10:26219091-26219091;A/T missense_variant False GAD2@p.I228F 1 0.158878505 ENSG00000136750 chr10:26224609-26224609;A/T missense_variant False GAD2@p.E21D 1 0.301886792 ENSG00000136750 chr10:26216872-26216872;G/T missense_variant False GAD1@p.V35M 1 0.222222222 ENSG00000128683 chr2:170822107-170822107;G/A missense_variant False GAL3ST1@p.R422W 1 0.137931034 ENSG00000128242 chr22:30554961-30554961;G/A missense_variant False GAD1@p.S249Y 1 0.454545455 ENSG00000128683 chr2:170844152-170844152;C/A missense_variant False GAD1@p.S240L 1 0.145833333 ENSG00000128683 chr2:170844125-170844125;C/T missense_variant False GAD1@p.K405N 1 0.15 ENSG00000128683 chr2:170852744-170852744;G/C missense_variant False GAD1@p.E485K 1 0.365019011 ENSG00000128683 chr2:170857057-170857057;G/A missense_variant False GAD1@p.E325Q 1 0.170886076 ENSG00000128683 chr2:170846034-170846034;G/C missense_variant False GABRR3@p.G219E 1 0.315789474 ENSG00000183185 chr3:98007862-98007862;C/T missense_variant False GADD45GIP1@p.E123Q 1 0.118644068 ENSG00000179271 chr19:12954510-12954510;C/G missense_variant False GADD45GIP1@p.E159K 1 0.121212121 ENSG00000179271 chr19:12954402-12954402;C/T missense_variant False GADL1@p.E407K 1 0.181818182 ENSG00000144644 chr3:30800920-30800920;C/T missense_variant False GADL1@p.H332Q 1 0.178571429 ENSG00000144644 chr3:30833907-30833907;G/T missense_variant False GADL1@p.M473I 1 0.113636364 ENSG00000144644 chr3:30728389-30728389;C/T missense_variant False GAK@p.D1182H 1 0.252873563 ENSG00000178950 chr4:851049-851049;C/G missense_variant False GAK@p.E76K 1 0.303571429 ENSG00000178950 chr4:912776-912776;C/T missense_variant False GAK@p.I107V 1 0.125 ENSG00000178950 chr4:911736-911736;T/C missense_variant False GAK@p.M1204I 1 0.123076923 ENSG00000178950 chr4:850981-850981;C/T missense_variant False GAK@p.Q1187E 1 0.253164557 ENSG00000178950 chr4:851034-851034;G/C missense_variant False GAK@p.S778C 1 0.636363636 ENSG00000178950 chr4:868601-868601;G/C missense_variant False GAK@p.S812F 1 0.072727273 ENSG00000178950 chr4:867393-867393;G/A missense_variant False GAK@p.S829L 1 0.184210526 ENSG00000178950 chr4:867342-867342;G/A missense_variant False GAK@p.V896L 1 0.730769231 ENSG00000178950 chr4:867142-867142;C/A missense_variant False GAL3ST1@p.E257K 1 0.146551724 ENSG00000128242 chr22:30555456-30555456;C/T missense_variant False GAL3ST1@p.E320Q 1 0.333333333 ENSG00000128242 chr22:30555267-30555267;C/G missense_variant False GAL3ST1@p.F219L 1 0.172131148 ENSG00000128242 chr22:30555568-30555568;G/C missense_variant False GART@p.K342E 1 0.336283186 ENSG00000159131 chr21:33528209-33528209;T/C missense_variant False GAS2@p.A157G 1 0.191176471 ENSG00000148935 chr11:22737765-22737765;C/G missense_variant False GABRA4@p.S455F 1 0.430379747 ENSG00000109158 chr4:46928526-46928526;G/A missense_variant False GCM1@p.S270N 1 0.323943662 ENSG00000137270 chr6:53128708-53128708;C/T missense_variant False GCN1@p.E1738Q 1 0.272058824 ENSG00000089154 chr12:120144779-120144779;C/G missense_variant False GCM2@p.S97F 1 0.300699301 ENSG00000124827 chr6:10877193-10877193;G/A missense_variant False GCM2@p.R357C 1 0.536585366 ENSG00000124827 chr6:10874447-10874447;G/A missense_variant False GCM2@p.R110G 1 0.28 ENSG00000124827 chr6:10877155-10877155;G/C missense_variant False GCM2@p.E321D 1 0.135338346 ENSG00000124827 chr6:10874553-10874553;C/G missense_variant False GCM2@p.A174V 1 0.306122449 ENSG00000124827 chr6:10875952-10875952;G/A missense_variant False GCM1@p.S207F 1 0.318471338 ENSG00000137270 chr6:53128897-53128897;G/A missense_variant False GCN1@p.E2023K 1 0.297619048 ENSG00000089154 chr12:120138784-120138784;C/T missense_variant False GCM1@p.N315S 1 0.242424242 ENSG00000137270 chr6:53128573-53128573;T/C missense_variant False GCM1@p.E195K 1 0.104347826 ENSG00000137270 chr6:53128934-53128934;C/T missense_variant False GCLM@p.S108N 1 0.464285714 ENSG00000023909 chr1:93897853-93897853;C/T missense_variant False GCLM@p.L190F 1 0.359281437 ENSG00000023909 chr1:93894701-93894701;G/A missense_variant False GCLC@p.S305F 1 0.428571429 ENSG00000001084 chr6:53508632-53508632;G/A missense_variant False GCLC@p.Q609K 1 0.2421875 ENSG00000001084 chr6:53498851-53498851;G/T missense_variant False GCN1@p.E1880Q 1 0.19047619 ENSG00000089154 chr12:120142698-120142698;C/G missense_variant False GCN1@p.E2030K 1 0.208955224 ENSG00000089154 chr12:120138763-120138763;C/T missense_variant False GAS2@p.S133L 1 0.385416667 ENSG00000148935 chr11:22726422-22726422;C/T missense_variant False GCN1@p.S2142F 1 0.095238095 ENSG00000089154 chr12:120137783-120137783;G/A missense_variant False GCNA@p.D140G 1 0.318007663 ENSG00000147174 chrX:71603696-71603696;A/G missense_variant False GCN1@p.V2411L 1 0.052631579 ENSG00000089154 chr12:120134377-120134377;C/A missense_variant False GCN1@p.T2542R 1 0.293103448 ENSG00000089154 chr12:120130692-120130692;G/C missense_variant False GCN1@p.S749Y 1 0.40625 ENSG00000089154 chr12:120161976-120161976;G/T missense_variant False GCN1@p.S349L 1 0.271604938 ENSG00000089154 chr12:120175209-120175209;G/A missense_variant False GCN1@p.S2182L 1 0.235294118 ENSG00000089154 chr12:120137663-120137663;G/A missense_variant False GCN1@p.S1226C 1 0.102739726 ENSG00000089154 chr12:120154994-120154994;G/C missense_variant False GCN1@p.F429L 1 0.102040816 ENSG00000089154 chr12:120173732-120173732;G/C missense_variant False GCN1@p.R2107P 1 0.125 ENSG00000089154 chr12:120137974-120137974;C/G missense_variant False GCN1@p.Q380E 1 0.153846154 ENSG00000089154 chr12:120174125-120174125;G/C missense_variant False GCN1@p.P640T 1 0.4 ENSG00000089154 chr12:120163190-120163190;G/T missense_variant False GCN1@p.I877M 1 0.132231405 ENSG00000089154 chr12:120159943-120159943;G/C missense_variant False GCN1@p.I820M 1 0.076923077 ENSG00000089154 chr12:120160232-120160232;G/C missense_variant False GCN1@p.H1845Y 1 0.336065574 ENSG00000089154 chr12:120142904-120142904;G/A missense_variant False GCLC@p.N114S 1 0.230125523 ENSG00000001084 chr6:53520871-53520871;T/C missense_variant False GCLC@p.G423R 1 0.295454545 ENSG00000001084 chr6:53505832-53505832;C/G missense_variant False GCLC@p.E312K 1 0.350877193 ENSG00000001084 chr6:53508612-53508612;C/T missense_variant False GCC2@p.E481Q 1 0.23943662 ENSG00000135968 chr2:108470770-108470770;G/C missense_variant False GCC2@p.T1291M 1 0.488372093 ENSG00000135968 chr2:108486590-108486590;C/T missense_variant False GCC2@p.S1318F 1 0.063694268 ENSG00000135968 chr2:108487721-108487721;C/T missense_variant False GCC2@p.Q1109H 1 0.409090909 ENSG00000135968 chr2:108482433-108482433;G/C missense_variant False GCC2@p.K916E 1 0.352941176 ENSG00000135968 chr2:108472075-108472075;A/G missense_variant False GCC2@p.G18R 1 0.277777778 ENSG00000135968 chr2:108449678-108449678;G/C missense_variant False GCC2@p.E951Q 1 0.272727273 ENSG00000135968 chr2:108472890-108472890;G/C missense_variant False GCC2@p.E407K 1 0.625 ENSG00000135968 chr2:108470548-108470548;G/A missense_variant False GCLC@p.D588H 1 0.14516129 ENSG00000001084 chr6:53498914-53498914;C/G missense_variant False GCC2@p.E381Gfs*6 1 0.264957265 ENSG00000135968 chr2:108470467-108470468;-/G frameshift_variant False GCC2@p.E1189K 1 0.3 ENSG00000135968 chr2:108484263-108484263;G/A missense_variant False GCC2@p.D982H 1 0.333333333 ENSG00000135968 chr2:108475618-108475618;G/C missense_variant False GCC2@p.D339H 1 0.185714286 ENSG00000135968 chr2:108470344-108470344;G/C missense_variant False GCC1@p.R310G 1 0.311320755 ENSG00000179562 chr7:127584255-127584255;G/C missense_variant False GCC1@p.M6I 1 0.116666667 ENSG00000179562 chr7:127585165-127585165;C/T missense_variant False GCDH@p.D220N 1 0.167286245 ENSG00000105607 chr19:12896227-12896227;G/A missense_variant False GCDH@p.E273Q 1 0.139534884 ENSG00000105607 chr19:12896386-12896386;G/C missense_variant False GCDH@p.G117V 1 0.296296296 ENSG00000105607 chr19:12893498-12893498;G/T missense_variant False GCDH@p.I265M 1 0.25 ENSG00000105607 chr19:12896364-12896364;C/G missense_variant False GCDH@p.R234W 1 0.208333333 ENSG00000105607 chr19:12896269-12896269;C/T missense_variant False GCFC2@p.D384N 1 0.103092784 ENSG00000005436 chr2:75690714-75690714;C/T missense_variant False GCFC2@p.D546H 1 0.132352941 ENSG00000005436 chr2:75687881-75687881;C/G missense_variant False GCFC2@p.K171N 1 0.486486486 ENSG00000005436 chr2:75702305-75702305;C/G missense_variant False GCFC2@p.N760H 1 0.3125 ENSG00000005436 chr2:75664734-75664734;T/G missense_variant False GCFC2@p.R365Nfs*7 1 0.210526316 ENSG00000005436 chr2:75692028-75692029;-/TT frameshift_variant False GCH1@p.L247F 1 0.268292683 ENSG00000131979 chr14:54844031-54844031;G/A missense_variant False GCK@p.V253I 1 0.222222222 ENSG00000106633 chr7:44147756-44147756;C/T missense_variant False GCKR@p.G354A 1 0.297619048 ENSG00000084734 chr2:27506880-27506880;G/C missense_variant False GCKR@p.Q562H 1 0.451923077 ENSG00000084734 chr2:27522573-27522573;G/C missense_variant False GCKR@p.T585S 1 0.130434783 ENSG00000084734 chr2:27523314-27523314;A/T missense_variant False GCLC@p.D45N 1 0.255319149 ENSG00000001084 chr6:53544501-53544501;C/T missense_variant False GCLC@p.D550Y 1 0.210526316 ENSG00000001084 chr6:53500105-53500105;C/A missense_variant False GCNA@p.D237N 1 0.825396825 ENSG00000147174 chrX:71603986-71603986;G/A missense_variant False GCNA@p.E377K 1 0.131578947 ENSG00000147174 chrX:71604406-71604406;G/A missense_variant False GCNT1@p.K401T 1 0.114942529 ENSG00000187210 chr9:76503583-76503583;A/C missense_variant False GDF11@p.S342F 1 0.154255319 ENSG00000135414 chr12:55749683-55749683;C/T missense_variant False GDF2@p.V283M 1 0.315789474 ENSG00000263761 chr10:47325341-47325341;G/A missense_variant False GDF2@p.T330S 1 0.40625 ENSG00000263761 chr10:47325482-47325482;A/T missense_variant False GDF2@p.T239M 1 0.403225806 ENSG00000263761 chr10:47325210-47325210;C/T missense_variant False GDF2@p.G31W 1 0.333333333 ENSG00000263761 chr10:47322759-47322759;G/T missense_variant False GDF2@p.E301K 1 0.12 ENSG00000263761 chr10:47325395-47325395;G/A missense_variant False GDF2@p.D238N 1 0.41025641 ENSG00000263761 chr10:47325206-47325206;G/A missense_variant False GDF11@p.R297W 1 0.345679012 ENSG00000135414 chr12:55749547-55749547;C/T missense_variant False GDF10@p.A313T 1 0.254901961 ENSG00000266524 chr10:47310413-47310413;G/A missense_variant False GDF11@p.N292K 1 0.239669421 ENSG00000135414 chr12:55749534-55749534;C/G missense_variant False GDF11@p.G394S 1 0.206896552 ENSG00000135414 chr12:55749838-55749838;G/A missense_variant False GDF11@p.G277A 1 0.4375 ENSG00000135414 chr12:55748970-55748970;G/C missense_variant False GDF11@p.D122E 1 0.549019608 ENSG00000135414 chr12:55743682-55743682;C/G missense_variant False GDF10@p.S227Y 1 0.641025641 ENSG00000266524 chr10:47310156-47310156;C/A missense_variant False GDF10@p.E346K 1 0.136363636 ENSG00000266524 chr10:47310512-47310512;G/A missense_variant False GDF3@p.E208Q 1 0.306666667 ENSG00000184344 chr12:7690351-7690351;C/G missense_variant False GDF3@p.E59Q 1 0.04040404 ENSG00000184344 chr12:7695554-7695554;C/G missense_variant False GDF3@p.P336S 1 0.276923077 ENSG00000184344 chr12:7689967-7689967;G/A missense_variant False GDF3@p.P48S 1 0.210526316 ENSG00000184344 chr12:7695587-7695587;G/A missense_variant False GDF5@p.F354L 1 0.376811594 ENSG00000125965 chr20:35434353-35434353;G/C missense_variant False GDF5@p.K148R 1 0.114754098 ENSG00000125965 chr20:35437486-35437486;T/C missense_variant False GDF5@p.P135S 1 0.516483516 ENSG00000125965 chr20:35437526-35437526;G/A missense_variant False GDF5@p.R243Q 1 0.22 ENSG00000125965 chr20:35434687-35434687;C/T missense_variant False GDF6@p.R261Q 1 0.208333333 ENSG00000156466 chr8:96145149-96145149;C/T missense_variant False GDF6@p.S15T 1 0.597560976 ENSG00000156466 chr8:96160649-96160649;C/G missense_variant False GDF6@p.S31C 1 0.237288136 ENSG00000156466 chr8:96160601-96160601;G/C missense_variant False GDF6@p.S350Ffs*89 1 0.388888889 ENSG00000156466 chr8:96144882-96144883;-/A frameshift_variant False GDF9@p.D309N 1 0.297297297 ENSG00000164404 chr5:132862029-132862029;C/T missense_variant False GDF9@p.D445N 1 0.181818182 ENSG00000164404 chr5:132861621-132861621;C/T missense_variant False GDF9@p.E39K 1 0.472 ENSG00000164404 chr5:132864419-132864419;C/T missense_variant False GDF9@p.G206E 1 0.267175573 ENSG00000164404 chr5:132862337-132862337;C/T missense_variant False GDF9@p.G436V 1 0.2125 ENSG00000164404 chr5:132861647-132861647;C/A missense_variant False GDF10@p.D226Y 1 0.166666667 ENSG00000266524 chr10:47310152-47310152;G/T missense_variant False GDE1@p.E184K 1 0.175438596 ENSG00000006007 chr16:19507773-19507773;C/T missense_variant False GCNT1@p.M167L 1 0.283950617 ENSG00000187210 chr9:76502880-76502880;A/T missense_variant False GCNT4@p.K173E 1 0.408602151 ENSG00000176928 chr5:75029521-75029521;T/C missense_variant False GCSAM@p.E108D 1 0.265306122 ENSG00000174500 chr3:112123668-112123668;C/G missense_variant False GCSAM@p.D59N 1 0.145833333 ENSG00000174500 chr3:112127002-112127002;C/T missense_variant False GCOM1@p.R51I 1 0.431192661 ENSG00000137878 chr15:57604345-57604345;G/T missense_variant False GCOM1@p.Q191E 1 0.074074074 ENSG00000137878 chr15:57629747-57629747;C/G missense_variant False GCOM1@p.K189M 1 0.274509804 ENSG00000137878 chr15:57629742-57629742;A/T missense_variant False GCOM1@p.I104M 1 0.168539326 ENSG00000137878 chr15:57618182-57618182;C/G missense_variant False GCNT4@p.H386Y 1 0.244897959 ENSG00000176928 chr5:75028882-75028882;G/A missense_variant False GDE1@p.E163K 1 0.133333333 ENSG00000006007 chr16:19510895-19510895;C/T missense_variant False GCNT4@p.E426Q 1 0.348837209 ENSG00000176928 chr5:75028762-75028762;C/G missense_variant False GCNT4@p.D170H 1 0.217391304 ENSG00000176928 chr5:75029530-75029530;C/G missense_variant False GCNT3@p.I179T 1 0.471014493 ENSG00000140297 chr15:59618774-59618774;T/C missense_variant False GCNT3@p.E116K 1 0.323076923 ENSG00000140297 chr15:59618584-59618584;G/A missense_variant False GCNT2@p.Y342C 1 0.09 ENSG00000111846 chr6:10626423-10626423;A/G missense_variant False GCNT1@p.R9I 1 0.386666667 ENSG00000187210 chr9:76502407-76502407;G/T missense_variant False GCSAM@p.M24I 1 0.075829384 ENSG00000174500 chr3:112130471-112130471;C/G missense_variant False GCSAM@p.P71A 1 0.22972973 ENSG00000174500 chr3:112125234-112125234;G/C missense_variant False GCSAM@p.R7T 1 0.151111111 ENSG00000174500 chr3:112133101-112133101;C/G missense_variant False GCSAML@p.D128Y 1 0.460526316 ENSG00000169224 chr1:247574356-247574356;G/T missense_variant False GDA@p.E360K 1 0.096774194 ENSG00000119125 chr9:72241241-72241241;G/A missense_variant False GDA@p.G224D 1 0.113207547 ENSG00000119125 chr9:72223184-72223184;G/A missense_variant False GDA@p.L173F 1 0.12987013 ENSG00000119125 chr9:72213932-72213932;G/C missense_variant False GDA@p.P402T 1 0.977777778 ENSG00000119125 chr9:72245216-72245216;C/A missense_variant False GDA@p.R14L 1 0.38 ENSG00000119125 chr9:72149600-72149600;G/T missense_variant False GDAP1@p.E168K 1 0.159574468 ENSG00000104381 chr8:74361901-74361901;G/A missense_variant False GDAP1@p.L28V 1 0.126315789 ENSG00000104381 chr8:74350543-74350543;C/G missense_variant False GDAP1@p.V219A 1 0.394117647 ENSG00000104381 chr8:74363015-74363015;T/C missense_variant False GDAP1L1@p.A358T 1 0.072727273 ENSG00000124194 chr20:44279268-44279268;G/A missense_variant False GDAP1L1@p.E200D 1 0.212765957 ENSG00000124194 chr20:44263282-44263282;G/T missense_variant False GDAP2@p.E211K 1 0.203125 ENSG00000196505 chr1:117906511-117906511;C/T missense_variant False GDAP2@p.E87Q 1 0.142857143 ENSG00000196505 chr1:117918654-117918654;C/G missense_variant False GDAP2@p.R232Q 1 0.820895522 ENSG00000196505 chr1:117899158-117899158;C/T missense_variant False GCC1@p.M342I 1 0.268656716 ENSG00000179562 chr7:127584157-127584157;C/T missense_variant False GCC1@p.E540K 1 0.141176471 ENSG00000179562 chr7:127582724-127582724;C/T missense_variant False GCAT@p.D208N 1 0.161290323 ENSG00000100116 chr22:37815171-37815171;G/A missense_variant False GATA2@p.F446L 1 0.213333333 ENSG00000179348 chr3:128481124-128481124;G/T missense_variant True GATA3@p.S213L 1 0.227272727 ENSG00000107485 chr10:8058701-8058701;C/T missense_variant True GATA3@p.S138F 1 0.236842105 ENSG00000107485 chr10:8058476-8058476;C/T missense_variant True GATA3@p.P135L 1 0.346153846 ENSG00000107485 chr10:8058467-8058467;C/T missense_variant True GATA3@p.M438Afs*38 1 0.396825397 ENSG00000107485 chr10:8074000-8074001;-/GC frameshift_variant True GATA2@p.S426F 1 0.162162162 ENSG00000179348 chr3:128481185-128481185;G/A missense_variant True GATA2@p.R396W 1 0.165413534 ENSG00000179348 chr3:128481276-128481276;G/A missense_variant True GATA2@p.E412Q 1 0.174242424 ENSG00000179348 chr3:128481228-128481228;C/G missense_variant True GASK1B@p.S318F 1 0.238095238 ENSG00000164125 chr4:158155783-158155783;G/A missense_variant False GATA2@p.D209H 1 0.307692308 ENSG00000179348 chr3:128485973-128485973;C/G missense_variant True GATA1@p.S187F 1 0.24137931 ENSG00000102145 chrX:48792183-48792183;C/T missense_variant True GATA1@p.S116C 1 0.240506329 ENSG00000102145 chrX:48791970-48791970;C/G missense_variant True GATA1@p.R307L 1 0.375 ENSG00000102145 chrX:48793842-48793842;G/T missense_variant True GATA1@p.F172L 1 0.24 ENSG00000102145 chrX:48792139-48792139;C/A missense_variant True GATA1@p.E114K 1 0.195121951 ENSG00000102145 chrX:48791963-48791963;G/A missense_variant True GATA3@p.S390L 1 0.314814815 ENSG00000107485 chr10:8073860-8073860;C/T missense_variant True GATA3@p.S404Afs*99 1 0.280701754 ENSG00000107485 chr10:8073898-8073908;CTGAGCCACAT/- frameshift_variant True GATA4@p.A343S 1 0.322033898 ENSG00000136574 chr8:11756964-11756964;G/T missense_variant False GATA5@p.D353Y 1 0.390243902 ENSG00000130700 chr20:62464973-62464973;C/A missense_variant False GATA5@p.S4N 1 0.363636364 ENSG00000130700 chr20:62475511-62475511;C/T missense_variant False GATA6@p.S520C 1 0.601449275 ENSG00000141448 chr18:22182982-22182982;C/G missense_variant False GATA6@p.S583Y 1 0.093247588 ENSG00000141448 chr18:22200783-22200783;C/A missense_variant False GATAD2A@p.E569Q 1 0.120879121 ENSG00000167491 chr19:19502460-19502460;G/C missense_variant False GATAD2A@p.L125F 1 0.3125 ENSG00000167491 chr19:19492411-19492411;G/C missense_variant False GATAD2A@p.R511H 1 0.222222222 ENSG00000167491 chr19:19502000-19502000;G/A missense_variant False GATAD2A@p.S629L 1 0.145454545 ENSG00000167491 chr19:19505458-19505458;C/T missense_variant False GATAD2B@p.D124H 1 0.047297297 ENSG00000143614 chr1:153819701-153819701;C/G missense_variant False GATAD2B@p.E38K 1 0.37366548 ENSG00000143614 chr1:153828236-153828236;C/T missense_variant False GATAD2B@p.N131S 1 0.127118644 ENSG00000143614 chr1:153819679-153819679;T/C missense_variant False GATB@p.D101H 1 0.164021164 ENSG00000059691 chr4:151758798-151758798;C/G missense_variant False GATB@p.E473Q 1 0.25 ENSG00000059691 chr4:151672890-151672890;C/G missense_variant False GATB@p.Q74H 1 0.385542169 ENSG00000059691 chr4:151758877-151758877;C/G missense_variant False GASK1B@p.S59F 1 0.255813953 ENSG00000164125 chr4:158171200-158171200;G/A missense_variant False GASK1B@p.R33K 1 0.439393939 ENSG00000164125 chr4:158171278-158171278;C/T missense_variant False GATB@p.R327T 1 0.402298851 ENSG00000059691 chr4:151703878-151703878;C/G missense_variant False GAS2L2@p.A540D 1 0.128205128 ENSG00000270765 chr17:35745878-35745878;G/T missense_variant False GAS2L3@p.Q89E 1 0.215568862 ENSG00000139354 chr12:100601715-100601715;C/G missense_variant False GAS2L3@p.D680G 1 0.189655172 ENSG00000139354 chr12:100624844-100624844;A/G missense_variant False GAS2L2@p.R413K 1 0.50310559 ENSG00000270765 chr17:35746259-35746259;C/T missense_variant False GAS2L2@p.E838Q 1 0.641509434 ENSG00000270765 chr17:35744985-35744985;C/G missense_variant False GAS2L2@p.D51E 1 0.402234637 ENSG00000270765 chr17:35752698-35752698;G/T missense_variant False GAS2L2@p.D270N 1 0.161290323 ENSG00000270765 chr17:35747873-35747873;C/T missense_variant False GAS2L1@p.R83Q 1 0.451612903 ENSG00000185340 chr22:29308353-29308353;G/A missense_variant False GASK1B@p.R22W 1 0.329268293 ENSG00000164125 chr4:158171312-158171312;G/A missense_variant False GAS2L1@p.R519Q 1 0.368421053 ENSG00000185340 chr22:29312007-29312007;G/A missense_variant False GAS2L1@p.Q294H 1 0.135714286 ENSG00000185340 chr22:29310870-29310870;G/C missense_variant False GAS2L1@p.E232K 1 0.139534884 ENSG00000185340 chr22:29310499-29310499;G/A missense_variant False GAS2L1@p.D582N 1 0.125 ENSG00000185340 chr22:29312195-29312195;G/A missense_variant False GAS2L1@p.D272Cfs*27 1 0.147058824 ENSG00000185340 chr22:29310707-29310729;CACGACCCGTGCCGCTGCTCCTC/- frameshift_variant False GAS2@p.T88I 1 0.475409836 ENSG00000148935 chr11:22685785-22685785;C/T missense_variant False GAS6@p.A658V 1 0.347826087 ENSG00000183087 chr13:113820928-113820928;G/A missense_variant False GAS6@p.M644V 1 0.444444444 ENSG00000183087 chr13:113820971-113820971;T/C missense_variant False GAS6@p.R641H 1 0.269230769 ENSG00000183087 chr13:113820979-113820979;C/T missense_variant False GAS6@p.S190F 1 0.490566038 ENSG00000183087 chr13:113838089-113838089;G/A missense_variant False GAS7@p.E197K 1 0.44 ENSG00000007237 chr17:9946920-9946920;C/T missense_variant False GAS7@p.E27K 1 0.25 ENSG00000007237 chr17:10198312-10198312;C/T missense_variant False GAS7@p.E299K 1 0.380794702 ENSG00000007237 chr17:9926760-9926760;C/T missense_variant False GAS7@p.E475Q 1 0.843137255 ENSG00000007237 chr17:9917236-9917236;C/G missense_variant False GAS7@p.F12C 1 0.173913043 ENSG00000007237 chr17:10198356-10198356;A/C missense_variant False GAS7@p.P81R 1 0.119047619 ENSG00000007237 chr17:10019839-10019839;G/C missense_variant False GAS8@p.K13Q 1 0.148148148 ENSG00000141013 chr16:90027669-90027669;A/C missense_variant False GAS8@p.L126V 1 0.053475936 ENSG00000141013 chr16:90032805-90032805;C/G missense_variant False GAS8@p.M258I 1 0.384615385 ENSG00000141013 chr16:90037249-90037249;G/A missense_variant False GASK1B@p.E250K 1 0.277777778 ENSG00000164125 chr4:158170628-158170628;C/T missense_variant False GASK1B@p.E300K 1 0.380952381 ENSG00000164125 chr4:158170478-158170478;C/T missense_variant False GASK1B@p.R22P 1 0.186666667 ENSG00000164125 chr4:158171311-158171311;C/G missense_variant False GASK1B@p.R22Q 1 0.254545455 ENSG00000164125 chr4:158171311-158171311;C/T missense_variant False GATB@p.R28K 1 0.09375 ENSG00000059691 chr4:151760900-151760900;C/T missense_variant False GATB@p.S449F 1 0.056 ENSG00000059691 chr4:151679877-151679877;G/A missense_variant False GC@p.R50T 1 0.060240964 ENSG00000145321 chr4:71768413-71768413;C/G missense_variant False GBP4@p.Q412H 1 0.093582888 ENSG00000162654 chr1:89188756-89188756;C/G missense_variant False GBP5@p.H74Y 1 0.303030303 ENSG00000154451 chr1:89268827-89268827;G/A missense_variant False GBP5@p.E311Q 1 0.125 ENSG00000154451 chr1:89264904-89264904;C/G missense_variant False GBP5@p.C12S 1 0.107142857 ENSG00000154451 chr1:89269522-89269522;A/T missense_variant False GBP4@p.S280L 1 0.110091743 ENSG00000162654 chr1:89191338-89191338;G/A missense_variant False GBP4@p.S232L 1 0.071428571 ENSG00000162654 chr1:89191482-89191482;G/A missense_variant False GBP4@p.R438T 1 0.078838174 ENSG00000162654 chr1:89188679-89188679;C/G missense_variant False GBP4@p.M353I 1 0.093023256 ENSG00000162654 chr1:89190176-89190176;C/A missense_variant False GBP3@p.K395Q 1 0.076923077 ENSG00000117226 chr1:89011083-89011083;T/G missense_variant False GBP4@p.L425P 1 0.109452736 ENSG00000162654 chr1:89188718-89188718;A/G missense_variant False GBP4@p.K388T 1 0.064516129 ENSG00000162654 chr1:89190072-89190072;T/G missense_variant False GBP4@p.E114K 1 0.331578947 ENSG00000162654 chr1:89195320-89195320;C/T missense_variant False GBP4@p.D493N 1 0.158333333 ENSG00000162654 chr1:89187036-89187036;C/T missense_variant False GBP4@p.A354S 1 0.093023256 ENSG00000162654 chr1:89190175-89190175;C/A missense_variant False GBP3@p.Q523E 1 0.125 ENSG00000117226 chr1:89009039-89009039;G/C missense_variant False GBP5@p.L408S 1 0.323699422 ENSG00000154451 chr1:89263875-89263875;A/G missense_variant False GBP5@p.R48C 1 0.321428571 ENSG00000154451 chr1:89269414-89269414;G/A missense_variant False GBP6@p.E458Q 1 0.519230769 ENSG00000183347 chr1:89383658-89383658;G/C missense_variant False GBP6@p.L281_G284del 1 0.161764706 ENSG00000183347 chr1:89380601-89380612;CTCAGGGAGGGA/- inframe_deletion False GBP6@p.N211T 1 0.5 ENSG00000183347 chr1:89380392-89380392;A/C missense_variant False GBP6@p.V252A 1 0.490566038 ENSG00000183347 chr1:89380515-89380515;T/C missense_variant False GBP7@p.A330V 1 0.510204082 ENSG00000213512 chr1:89149455-89149455;G/A missense_variant False GBP7@p.C626W 1 0.112359551 ENSG00000213512 chr1:89132188-89132188;A/C missense_variant False GBP7@p.D237H 1 0.362903226 ENSG00000213512 chr1:89150492-89150492;C/G missense_variant False GBP7@p.E544Q 1 0.37037037 ENSG00000213512 chr1:89133290-89133290;C/G missense_variant False GBP7@p.F126L 1 0.181818182 ENSG00000213512 chr1:89152720-89152720;A/G missense_variant False GBX1@p.D151N 1 0.25 ENSG00000164900 chr7:151167098-151167098;C/T missense_variant False GBX1@p.K283N 1 0.172043011 ENSG00000164900 chr7:151148832-151148832;C/A missense_variant False GBX2@p.D204N 1 0.459459459 ENSG00000168505 chr2:236166351-236166351;C/T missense_variant False GBX2@p.F254L 1 0.111111111 ENSG00000168505 chr2:236166199-236166199;G/T missense_variant False GC@p.E267K 1 0.12244898 ENSG00000145321 chr4:71758074-71758074;C/T missense_variant False GC@p.K2N 1 0.419354839 ENSG00000145321 chr4:71784013-71784013;C/G missense_variant False GBP3@p.L28M 1 0.25 ENSG00000117226 chr1:89020640-89020640;G/T missense_variant False GBP2@p.A175E 1 0.093333333 ENSG00000162645 chr1:89117678-89117678;G/T missense_variant False GATD1@p.E58K 1 0.351351351 ENSG00000177225 chr11:774083-774083;C/T missense_variant False GBA@p.D257V 1 0.393939394 ENSG00000177628 chr1:155237570-155237570;T/A missense_variant False GBF1@p.E517K 1 0.355263158 ENSG00000107862 chr10:102361775-102361775;G/A missense_variant False GBF1@p.E457K 1 0.12244898 ENSG00000107862 chr10:102360372-102360372;G/A missense_variant False GBF1@p.E1614Q 1 0.162790698 ENSG00000107862 chr10:102379916-102379916;G/C missense_variant False GBF1@p.E1067D 1 0.308823529 ENSG00000107862 chr10:102369761-102369761;G/C missense_variant False GBA@p.R8K 1 0.181818182 ENSG00000177628 chr1:155241090-155241090;C/T missense_variant False GBA@p.D63H 1 0.131578947 ENSG00000177628 chr1:155240006-155240006;C/G missense_variant False GBA@p.A139S 1 0.271428571 ENSG00000177628 chr1:155239655-155239655;C/A missense_variant False GBP1@p.T481A 1 0.571428571 ENSG00000117228 chr1:89055143-89055143;T/C missense_variant False GBA3@p.L251V 1 0.11627907 ENSG00000249948 chr4:22747760-22747760;C/G missense_variant False GBA3@p.H185Y 1 0.174311927 ENSG00000249948 chr4:22747562-22747562;C/T missense_variant False GBA2@p.D677N 1 0.183908046 ENSG00000070610 chr9:35738551-35738551;C/T missense_variant False GATM@p.R34Q 1 0.363636364 ENSG00000171766 chr15:45376788-45376788;C/T missense_variant False GATM@p.G402E 1 0.111111111 ENSG00000171766 chr15:45362176-45362176;C/T missense_variant False GATM@p.E279K 1 0.192307692 ENSG00000171766 chr15:45366189-45366189;C/T missense_variant False GBF1@p.E696K 1 0.196850394 ENSG00000107862 chr10:102363778-102363778;G/A missense_variant False GBF1@p.K1417N 1 0.302325581 ENSG00000107862 chr10:102376763-102376763;G/C missense_variant False GBF1@p.P512A 1 0.131944444 ENSG00000107862 chr10:102361760-102361760;C/G missense_variant False GBF1@p.R1095W 1 0.15 ENSG00000107862 chr10:102369928-102369928;C/T missense_variant False GBF1@p.R1449P 1 0.110169492 ENSG00000107862 chr10:102376992-102376992;G/C missense_variant False GBF1@p.R22Q 1 0.316176471 ENSG00000107862 chr10:102259003-102259003;G/A missense_variant False GBF1@p.R66Q 1 0.419354839 ENSG00000107862 chr10:102344084-102344084;G/A missense_variant False GBF1@p.S348L 1 0.333333333 ENSG00000107862 chr10:102359298-102359298;C/T missense_variant False GBF1@p.S368F 1 0.311111111 ENSG00000107862 chr10:102359358-102359358;C/T missense_variant False GBP1@p.A551V 1 0.291666667 ENSG00000117228 chr1:89054695-89054695;G/A missense_variant False GBP1@p.E261K 1 0.388278388 ENSG00000117228 chr1:89058085-89058085;C/T missense_variant False GBP1@p.E352Q 1 0.278481013 ENSG00000117228 chr1:89056955-89056955;C/G missense_variant False GBP1@p.E449K 1 0.132231405 ENSG00000117228 chr1:89056039-89056039;C/T missense_variant False GBP1@p.K468T 1 0.164556962 ENSG00000117228 chr1:89055181-89055181;T/G missense_variant False GBP1@p.L67M 1 0.116438356 ENSG00000117228 chr1:89060316-89060316;G/T missense_variant False GBP1@p.Q321H 1 0.197674419 ENSG00000117228 chr1:89057046-89057046;C/G missense_variant False GBP1@p.S3L 1 0.315217391 ENSG00000117228 chr1:89063227-89063227;G/A missense_variant False GABRA4@p.S469L 1 0.220338983 ENSG00000109158 chr4:46928484-46928484;G/A missense_variant False GABRA4@p.R50H 1 0.329113924 ENSG00000109158 chr4:46992884-46992884;C/T missense_variant False GPR22@p.E202K 1 0.454545455 ENSG00000172209 chr7:107474664-107474664;G/A missense_variant False FRMPD2@p.R557K 1 0.285714286 ENSG00000170324 chr10:48206875-48206875;C/T missense_variant False FRMPD4@p.D1033N 1 0.242774566 ENSG00000169933 chrX:12717923-12717923;G/A missense_variant False FRMPD3@p.R1628L 1 0.382978723 ENSG00000147234 chrX:107602823-107602823;G/T missense_variant False FRMPD3@p.M257I 1 0.222222222 ENSG00000147234 chrX:107554414-107554414;G/A missense_variant False FRMPD3@p.F439L 1 0.544444444 ENSG00000147234 chrX:107564988-107564988;C/A missense_variant False FRMPD3@p.E817Q 1 0.258064516 ENSG00000147234 chrX:107600389-107600389;G/C missense_variant False FRMPD2@p.R784C 1 0.15483871 ENSG00000170324 chr10:48185562-48185562;G/A missense_variant False FRMPD2@p.N791H 1 0.166666667 ENSG00000170324 chr10:48184870-48184870;T/G missense_variant False FRMPD4@p.E918Q 1 0.375 ENSG00000169933 chrX:12717578-12717578;G/C missense_variant False FRMPD2@p.E772K 1 0.184615385 ENSG00000170324 chr10:48185598-48185598;C/T missense_variant False FRMPD2@p.D47H 1 0.320987654 ENSG00000170324 chr10:48251578-48251578;C/G missense_variant False FRMPD2@p.D1196Y 1 0.311926606 ENSG00000170324 chr10:48163623-48163623;C/A missense_variant False FRMPD2@p.A1061T 1 0.318181818 ENSG00000170324 chr10:48172988-48172988;C/T missense_variant False FRMPD1@p.S1037F 1 0.376404494 ENSG00000070601 chr9:37745142-37745142;C/T missense_variant False FRMPD1@p.Q1196E 1 0.836734694 ENSG00000070601 chr9:37745618-37745618;C/G missense_variant False FRMPD4@p.E1000K 1 0.403225806 ENSG00000169933 chrX:12717824-12717824;G/A missense_variant False FRMPD4@p.P35S 1 0.974358974 ENSG00000169933 chrX:12498741-12498741;C/T missense_variant False FSIP1@p.A118D 1 0.218181818 ENSG00000150667 chr15:39765704-39765704;G/T missense_variant False FRS2@p.E430Q 1 0.136363636 ENSG00000166225 chr12:69574716-69574716;G/C missense_variant False FRS2@p.R78Q 1 0.218181818 ENSG00000166225 chr12:69570497-69570497;G/A missense_variant False FRS2@p.R491Q 1 0.393442623 ENSG00000166225 chr12:69574900-69574900;G/A missense_variant False FRS2@p.Q259E 1 0.288461538 ENSG00000166225 chr12:69574203-69574203;C/G missense_variant False FRS2@p.G311R 1 0.365853659 ENSG00000166225 chr12:69574359-69574359;G/A missense_variant False FRS2@p.E96K 1 0.191176471 ENSG00000166225 chr12:69571308-69571308;G/A missense_variant False FRS2@p.E477D 1 0.091549296 ENSG00000166225 chr12:69574859-69574859;G/C missense_variant False FRS2@p.E408Q 1 0.2 ENSG00000166225 chr12:69574650-69574650;G/C missense_variant False FRMPD4@p.R1189S 1 0.157894737 ENSG00000169933 chrX:12718391-12718391;C/A missense_variant False FRRS1L@p.A182S 1 0.289256198 ENSG00000260230 chr9:109141508-109141508;C/A missense_variant False FRRS1@p.V53L 1 0.161290323 ENSG00000156869 chr1:99748612-99748612;C/G missense_variant False FRRS1@p.S69L 1 0.205298013 ENSG00000156869 chr1:99747421-99747421;G/A missense_variant False FRRS1@p.R306I 1 0.255813953 ENSG00000156869 chr1:99728582-99728582;C/A missense_variant False FRRS1@p.P447T 1 0.071428571 ENSG00000156869 chr1:99712500-99712500;G/T missense_variant False FRMPD4@p.R647T 1 0.093596059 ENSG00000169933 chrX:12716399-12716399;G/C missense_variant False FRMPD1@p.L904R 1 0.328125 ENSG00000070601 chr9:37744743-37744743;T/G missense_variant False FRMPD1@p.L390F 1 0.155844156 ENSG00000070601 chr9:37733775-37733775;C/T missense_variant False FRMPD1@p.G92D 1 0.455696203 ENSG00000070601 chr9:37708414-37708414;G/A missense_variant False FRMD5@p.E245Q 1 0.106060606 ENSG00000171877 chr15:43888868-43888868;C/G missense_variant False FRMD6@p.N119H 1 0.367088608 ENSG00000139926 chr14:51702572-51702572;A/C missense_variant False FRMD6@p.I256Nfs*9 1 0.316455696 ENSG00000139926 chr14:51711576-51711577;-/G frameshift_variant False FRMD6@p.E87K 1 0.266666667 ENSG00000139926 chr14:51701124-51701124;G/A missense_variant False FRMD6@p.E341K 1 0.470588235 ENSG00000139926 chr14:51715496-51715496;G/A missense_variant False FRMD5@p.R370K 1 0.52238806 ENSG00000171877 chr15:43883729-43883729;C/T missense_variant False FRMD5@p.E422K 1 0.1875 ENSG00000171877 chr15:43874334-43874334;C/T missense_variant False FRMD4B@p.Q927H 1 0.305785124 ENSG00000114541 chr3:69180969-69180969;C/G missense_variant False FRMPD1@p.E794Q 1 0.260162602 ENSG00000070601 chr9:37744412-37744412;G/C missense_variant False FRMD4B@p.E848Q 1 0.097222222 ENSG00000114541 chr3:69181208-69181208;C/G missense_variant False FRMD4B@p.E375G 1 0.15060241 ENSG00000114541 chr3:69196365-69196365;T/C missense_variant False FRMD4A@p.V133I 1 0.428571429 ENSG00000151474 chr10:13762668-13762668;C/T missense_variant False FRMD4A@p.S374F 1 0.314285714 ENSG00000151474 chr10:13675041-13675041;G/A missense_variant False FRMD4A@p.P277L 1 0.25 ENSG00000151474 chr10:13707043-13707043;G/A missense_variant False FRMD4A@p.L163* 1 0.333333333 ENSG00000151474 chr10:13747796-13747796;A/- frameshift_variant False FRMD6@p.R15H 1 0.315789474 ENSG00000139926 chr14:51689880-51689880;G/A missense_variant False FRMD6@p.S143F 1 0.353846154 ENSG00000139926 chr14:51704805-51704805;C/T missense_variant False FRMD7@p.E255K 1 0.435114504 ENSG00000165694 chrX:132082505-132082505;C/T missense_variant False FRMD7@p.M457I 1 0.273037543 ENSG00000165694 chrX:132078646-132078646;C/T missense_variant False FRMD7@p.R440K 1 0.177777778 ENSG00000165694 chrX:132078698-132078698;C/T missense_variant False FRMD7@p.S51C 1 0.111111111 ENSG00000165694 chrX:132100622-132100622;G/C missense_variant False FRMD8@p.D114N 1 0.238095238 ENSG00000126391 chr11:65393659-65393659;G/A missense_variant False FRMD8@p.D39N 1 0.234042553 ENSG00000126391 chr11:65389390-65389390;G/A missense_variant False FRMD8@p.E15K 1 0.308641975 ENSG00000126391 chr11:65387079-65387079;G/A missense_variant False FRMD8@p.E275K 1 0.422222222 ENSG00000126391 chr11:65399755-65399755;G/A missense_variant False FRMD8@p.R126Q 1 0.255319149 ENSG00000126391 chr11:65394062-65394062;G/A missense_variant False FRMD8@p.S321L 1 0.145454545 ENSG00000126391 chr11:65400758-65400758;C/T missense_variant False FRMPD1@p.A774T 1 0.222222222 ENSG00000070601 chr9:37740848-37740848;G/A missense_variant False FRMPD1@p.D591G 1 0.261538462 ENSG00000070601 chr9:37740300-37740300;A/G missense_variant False FRMPD1@p.D818N 1 0.075949367 ENSG00000070601 chr9:37744484-37744484;G/A missense_variant False FRMPD1@p.E1485Q 1 0.42 ENSG00000070601 chr9:37746485-37746485;G/C missense_variant False FRMPD1@p.E454K 1 0.166666667 ENSG00000070601 chr9:37735693-37735693;G/A missense_variant False FRS3@p.C107Y 1 0.244897959 ENSG00000137218 chr6:41772893-41772893;C/T missense_variant False FRS3@p.P411H 1 0.204545455 ENSG00000137218 chr6:41770866-41770866;G/T missense_variant False FRS3@p.S277C 1 0.111111111 ENSG00000137218 chr6:41771268-41771268;G/C missense_variant False FSCB@p.E824K 1 0.21875 ENSG00000189139 chr14:44504518-44504518;C/T missense_variant False FSCN1@p.R100C 1 0.684210526 ENSG00000075618 chr7:5593234-5593234;C/T missense_variant False FSCN1@p.Q285E 1 0.371428571 ENSG00000075618 chr7:5603277-5603277;C/G missense_variant False FSCN1@p.Q189H 1 0.08045977 ENSG00000075618 chr7:5593503-5593503;G/C missense_variant False FSCN1@p.D192N 1 0.138888889 ENSG00000075618 chr7:5593510-5593510;G/A missense_variant False FSCB@p.Q113E 1 0.076433121 ENSG00000189139 chr14:44506651-44506651;G/C missense_variant False FSCB@p.H29N 1 0.380368098 ENSG00000189139 chr14:44506903-44506903;G/T missense_variant False FRZB@p.Y190C 1 0.053846154 ENSG00000162998 chr2:182842501-182842501;T/C missense_variant False FRYL@p.L868Rfs*10 1 0.298507463 ENSG00000075539 chr4:48576121-48576148;GATGTTGCTGCACTGCAGCAAAGGATCA/- frameshift_variant False FRZB@p.L223V 1 0.164285714 ENSG00000162998 chr2:182838539-182838539;G/C missense_variant False FRZB@p.E103K 1 0.31372549 ENSG00000162998 chr2:182866246-182866246;C/T missense_variant False FRZB@p.C136Y 1 0.25 ENSG00000162998 chr2:182866146-182866146;C/T missense_variant False FRYL@p.R395Q 1 0.196078431 ENSG00000075539 chr4:48595654-48595654;C/T missense_variant False FRYL@p.Q1166H 1 0.174603175 ENSG00000075539 chr4:48564046-48564046;C/G missense_variant False FRYL@p.P1065S 1 0.184210526 ENSG00000075539 chr4:48565668-48565668;G/A missense_variant False FSCN1@p.R300C 1 0.408163265 ENSG00000075618 chr7:5603322-5603322;C/T missense_variant False FSCN2@p.E115K 1 0.375 ENSG00000186765 chr17:81528874-81528874;G/A missense_variant False FSCN2@p.E447Q 1 0.272727273 ENSG00000186765 chr17:81536940-81536940;G/C missense_variant False FSCN2@p.R183G 1 0.363636364 ENSG00000186765 chr17:81529078-81529078;C/G missense_variant False FSCN3@p.A170T 1 0.483870968 ENSG00000106328 chr7:127595670-127595670;G/A missense_variant False FSCN3@p.C456S 1 0.071428571 ENSG00000106328 chr7:127600269-127600269;G/C missense_variant False FSCN3@p.R101Q 1 0.268115942 ENSG00000106328 chr7:127595464-127595464;G/A missense_variant False FSD1@p.R337C 1 0.415584416 ENSG00000105255 chr19:4318921-4318921;C/T missense_variant False FSD2@p.E403D 1 0.272727273 ENSG00000186628 chr15:82772131-82772131;C/G missense_variant False FSD2@p.E54Q 1 0.355769231 ENSG00000186628 chr15:82787231-82787231;C/G missense_variant False FSD2@p.E729Q 1 0.333333333 ENSG00000186628 chr15:82759413-82759413;C/G missense_variant False FSD2@p.E7K 1 0.145454545 ENSG00000186628 chr15:82787372-82787372;C/T missense_variant False FSD2@p.F21V 1 0.366666667 ENSG00000186628 chr15:82787330-82787330;A/C missense_variant False FSD2@p.R644C 1 0.384615385 ENSG00000186628 chr15:82762169-82762169;G/A missense_variant False FSHR@p.D89H 1 0.310126582 ENSG00000170820 chr2:49020120-49020120;C/G missense_variant False FSHR@p.H615Y 1 0.22 ENSG00000170820 chr2:48962978-48962978;G/A missense_variant False FSHR@p.L4F 1 0.345454545 ENSG00000170820 chr2:49154408-49154408;G/A missense_variant False FRYL@p.N1738Y 1 0.5625 ENSG00000075539 chr4:48546134-48546134;T/A missense_variant False FRYL@p.K849N 1 0.071428571 ENSG00000075539 chr4:48576204-48576204;C/G missense_variant False FRY@p.D1789V 1 0.422764228 ENSG00000073910 chr13:32228615-32228615;A/T missense_variant False FRY@p.G1306E 1 0.080645161 ENSG00000073910 chr13:32202426-32202426;G/A missense_variant False FRY@p.P2300L 1 0.435483871 ENSG00000073910 chr13:32247393-32247393;C/T missense_variant False FRY@p.L791P 1 0.538461538 ENSG00000073910 chr13:32175583-32175583;T/C missense_variant False FRY@p.L3003V 1 0.484375 ENSG00000073910 chr13:32295425-32295425;C/G missense_variant False FRY@p.L2403V 1 0.52238806 ENSG00000073910 chr13:32251914-32251914;C/G missense_variant False FRY@p.H642Rfs*26 1 0.170212766 ENSG00000073910 chr13:32171043-32171064;CATATTGCACAAAATTCTCTTC/- frameshift_variant False FRY@p.G528E 1 0.138888889 ENSG00000073910 chr13:32155594-32155594;G/A missense_variant False FRY@p.E473Q 1 0.244897959 ENSG00000073910 chr13:32149772-32149772;G/C missense_variant False FRYL@p.K639N 1 0.272727273 ENSG00000075539 chr4:48582566-48582566;C/G missense_variant False FRY@p.E2826K 1 0.34375 ENSG00000073910 chr13:32289639-32289639;G/A missense_variant False FRY@p.E2500Q 1 0.144578313 ENSG00000073910 chr13:32261697-32261697;G/C missense_variant False FRY@p.E2059Q 1 0.168831169 ENSG00000073910 chr13:32237743-32237743;G/C missense_variant False FRY@p.E1434K 1 0.260869565 ENSG00000073910 chr13:32209609-32209609;G/A missense_variant False FRY@p.E1004Q 1 0.076923077 ENSG00000073910 chr13:32182990-32182990;G/C missense_variant False FRY@p.D2679N 1 0.156626506 ENSG00000073910 chr13:32267258-32267258;G/A missense_variant False FRY@p.Q2829H 1 0.25 ENSG00000073910 chr13:32289650-32289650;G/C missense_variant False FRY@p.R417Q 1 0.48 ENSG00000073910 chr13:32147352-32147352;G/A missense_variant False FRY@p.S1398C 1 0.296551724 ENSG00000073910 chr13:32209027-32209027;C/G missense_variant False FRY@p.S1698C 1 0.362204724 ENSG00000073910 chr13:32225861-32225861;C/G missense_variant False FRY@p.S2237T 1 0.082352941 ENSG00000073910 chr13:32244064-32244064;G/C missense_variant False FRY@p.S2592L 1 0.385714286 ENSG00000073910 chr13:32262471-32262471;C/T missense_variant False FRY@p.S2658F 1 0.138888889 ENSG00000073910 chr13:32267196-32267196;C/T missense_variant False FRY@p.T2703P 1 0.128571429 ENSG00000073910 chr13:32267330-32267330;A/C missense_variant False FRYL@p.A1826V 1 0.270833333 ENSG00000075539 chr4:48543922-48543922;G/A missense_variant False FRYL@p.D2456N 1 0.431372549 ENSG00000075539 chr4:48523056-48523056;C/T missense_variant False FRYL@p.D606H 1 0.260273973 ENSG00000075539 chr4:48582667-48582667;C/G missense_variant False FRYL@p.E2612K 1 0.436363636 ENSG00000075539 chr4:48515131-48515131;C/T missense_variant False FRYL@p.E2764K 1 0.162790698 ENSG00000075539 chr4:48510840-48510840;C/T missense_variant False FRYL@p.E2881K 1 0.270588235 ENSG00000075539 chr4:48500172-48500172;C/T missense_variant False FRYL@p.E467K 1 0.142857143 ENSG00000075539 chr4:48590767-48590767;C/T missense_variant False FRYL@p.I921V 1 0.131578947 ENSG00000075539 chr4:48575202-48575202;T/C missense_variant False FRYL@p.K1681N 1 0.596153846 ENSG00000075539 chr4:48547615-48547615;T/A missense_variant False FRMD4A@p.K385R 1 0.152173913 ENSG00000151474 chr10:13675008-13675008;T/C missense_variant False FRMD4A@p.I188V 1 0.103896104 ENSG00000151474 chr10:13740564-13740564;T/C missense_variant False FRMD4A@p.G642E 1 0.480519481 ENSG00000151474 chr10:13659464-13659464;C/T missense_variant False FRAS1@p.E2687D 1 0.5 ENSG00000138759 chr4:78478024-78478024;G/C missense_variant False FRAS1@p.F3794L 1 0.161764706 ENSG00000138759 chr4:78539377-78539377;C/A missense_variant False FRAS1@p.F1933L 1 0.530769231 ENSG00000138759 chr4:78445655-78445655;T/G missense_variant False FRAS1@p.F1805L 1 0.193548387 ENSG00000138759 chr4:78438950-78438950;C/G missense_variant False FRAS1@p.F142L 1 0.210526316 ENSG00000138759 chr4:78252508-78252508;C/A missense_variant False FRAS1@p.E329K 1 0.153846154 ENSG00000138759 chr4:78278658-78278658;G/A missense_variant False FRAS1@p.E3246K 1 0.378378378 ENSG00000138759 chr4:78508962-78508962;G/A missense_variant False FRAS1@p.E1795Q 1 0.055555556 ENSG00000138759 chr4:78438918-78438918;G/C missense_variant False FPR2@p.S182C 1 0.166666667 ENSG00000171049 chr19:51769203-51769203;C/G missense_variant False FRAS1@p.D775N 1 0.219298246 ENSG00000138759 chr4:78337718-78337718;G/A missense_variant False FRAS1@p.D3442N 1 0.261904762 ENSG00000138759 chr4:78515948-78515948;G/A missense_variant False FRAS1@p.D2775H 1 0.379310345 ENSG00000138759 chr4:78479598-78479598;G/C missense_variant False FRAS1@p.D1861H 1 0.421052632 ENSG00000138759 chr4:78441213-78441213;G/C missense_variant False FPR3@p.S84L 1 0.295238095 ENSG00000187474 chr19:51823999-51823999;C/T missense_variant False FPR3@p.I116V 1 0.231481481 ENSG00000187474 chr19:51824094-51824094;A/G missense_variant False FRAS1@p.G2168R 1 0.461538462 ENSG00000138759 chr4:78451810-78451810;G/A missense_variant False FRAS1@p.G355R 1 0.274193548 ENSG00000138759 chr4:78278736-78278736;G/A missense_variant False FRAS1@p.H1044Y 1 0.213017751 ENSG00000138759 chr4:78374230-78374230;C/T missense_variant False FRAS1@p.H1066N 1 0.166666667 ENSG00000138759 chr4:78375783-78375783;C/A missense_variant False FRAS1@p.H3795N 1 0.157894737 ENSG00000138759 chr4:78539378-78539378;C/A missense_variant False FRAS1@p.H782Y 1 0.135416667 ENSG00000138759 chr4:78337739-78337739;C/T missense_variant False FRAS1@p.L2982V 1 0.222222222 ENSG00000138759 chr4:78489066-78489066;C/G missense_variant False FRAS1@p.L3142F 1 0.233333333 ENSG00000138759 chr4:78507528-78507528;C/T missense_variant False FRAS1@p.P3204S 1 0.379310345 ENSG00000138759 chr4:78508836-78508836;C/T missense_variant False FRAS1@p.R1967K 1 0.333333333 ENSG00000138759 chr4:78446770-78446770;G/A missense_variant False FRAS1@p.R532T 1 0.294117647 ENSG00000138759 chr4:78308126-78308126;G/C missense_variant False FRAS1@p.S117C 1 0.192307692 ENSG00000138759 chr4:78252432-78252432;C/G missense_variant False FRAS1@p.S3342L 1 0.431192661 ENSG00000138759 chr4:78513403-78513403;C/T missense_variant False FRAS1@p.S3661L 1 0.076923077 ENSG00000138759 chr4:78534505-78534505;C/T missense_variant False FRAS1@p.T474M 1 0.642857143 ENSG00000138759 chr4:78286426-78286426;C/T missense_variant False FRAS1@p.Y459H 1 0.394160584 ENSG00000138759 chr4:78284524-78284524;T/C missense_variant False FREM1@p.A1118T 1 0.457627119 ENSG00000164946 chr9:14805075-14805075;C/T missense_variant False FPR3@p.F182L 1 0.544217687 ENSG00000187474 chr19:51824294-51824294;C/G missense_variant False FPR2@p.R54W 1 0.15 ENSG00000171049 chr19:51768818-51768818;C/T missense_variant False FREM1@p.D804N 1 0.2 ENSG00000164946 chr9:14819370-14819370;C/T missense_variant False FOXS1@p.E205K 1 0.090909091 ENSG00000179772 chr20:31844930-31844930;C/T missense_variant False FPGS@p.S173F 1 0.108108108 ENSG00000136877 chr9:127807225-127807225;C/T missense_variant False FPGS@p.P281L 1 0.333333333 ENSG00000136877 chr9:127808577-127808577;C/T missense_variant False FPGS@p.F438L 1 0.272727273 ENSG00000136877 chr9:127810971-127810971;C/G missense_variant False FPGS@p.E150Q 1 0.1875 ENSG00000136877 chr9:127807034-127807034;G/C missense_variant False FOXS1@p.R81C 1 0.346938776 ENSG00000179772 chr20:31845302-31845302;G/A missense_variant False FOXS1@p.Q139R 1 0.085106383 ENSG00000179772 chr20:31845127-31845127;T/C missense_variant False FOXS1@p.D100N 1 0.179487179 ENSG00000179772 chr20:31845245-31845245;C/T missense_variant False FPR2@p.G111V 1 0.382857143 ENSG00000171049 chr19:51768990-51768990;G/T missense_variant False FOXRED2@p.R112G 1 0.62295082 ENSG00000100350 chr22:36506089-36506089;T/C missense_variant False FOXRED2@p.P574S 1 0.309090909 ENSG00000100350 chr22:36493708-36493708;G/A missense_variant False FOXRED2@p.P574L 1 0.296296296 ENSG00000100350 chr22:36493707-36493707;G/A missense_variant False FOXRED2@p.E209K 1 0.598360656 ENSG00000100350 chr22:36504669-36504669;C/T missense_variant False FOXRED1@p.G347E 1 0.375 ENSG00000110074 chr11:126276462-126276462;G/A missense_variant False FOXRED1@p.E454D 1 0.0625 ENSG00000110074 chr11:126277590-126277590;G/C missense_variant False FPGT-TNNI3K@p.A641T 1 0.316831683 ENSG00000259030 chr1:74369497-74369497;G/A missense_variant False FPGT-TNNI3K@p.D441H 1 0.52 ENSG00000259030 chr1:74353312-74353312;G/C missense_variant False FPGT-TNNI3K@p.G314A 1 0.213114754 ENSG00000259030 chr1:74336066-74336066;G/C missense_variant False FPGT-TNNI3K@p.G325R 1 0.352941176 ENSG00000259030 chr1:74336098-74336098;G/C missense_variant False FPGT-TNNI3K@p.R622Q 1 0.46031746 ENSG00000259030 chr1:74369441-74369441;G/A missense_variant False FPGT@p.D197E 1 0.119402985 ENSG00000254685 chr1:74204599-74204599;C/A missense_variant False FPGT@p.D222G 1 0.11023622 ENSG00000254685 chr1:74204673-74204673;A/G missense_variant False FPGT@p.D273N 1 0.326086957 ENSG00000254685 chr1:74204825-74204825;G/A missense_variant False FPGT@p.D277H 1 0.285714286 ENSG00000254685 chr1:74204837-74204837;G/C missense_variant False FPGT@p.D284H 1 0.530612245 ENSG00000254685 chr1:74204858-74204858;G/C missense_variant False FPGT@p.D290N 1 0.425925926 ENSG00000254685 chr1:74204876-74204876;G/A missense_variant False FPGT@p.Q417R 1 0.151515152 ENSG00000254685 chr1:74205258-74205258;A/G missense_variant False FPGT@p.S468C 1 0.136363636 ENSG00000254685 chr1:74205411-74205411;C/G missense_variant False FPR1@p.A17T 1 0.222222222 ENSG00000171051 chr19:51746946-51746946;C/T missense_variant False FPR1@p.P130S 1 0.2 ENSG00000171051 chr19:51746607-51746607;G/A missense_variant False FPR1@p.R123C 1 0.322580645 ENSG00000171051 chr19:51746628-51746628;G/A missense_variant False FPR2@p.A226S 1 0.419047619 ENSG00000171049 chr19:51769334-51769334;G/T missense_variant False FREM1@p.D1204Y 1 0.482758621 ENSG00000164946 chr9:14801736-14801736;C/A missense_variant False FREM1@p.D947N 1 0.268907563 ENSG00000164946 chr9:14812866-14812866;C/T missense_variant False FRMD4A@p.F879L 1 0.333333333 ENSG00000151474 chr10:13656952-13656952;G/C missense_variant False FREM2@p.V415E 1 0.231707317 ENSG00000150893 chr13:38688588-38688588;T/A missense_variant False FRG2B@p.H133Q 1 0.364485981 ENSG00000225899 chr10:133625537-133625537;G/T missense_variant False FRG2@p.S51F 1 0.166666667 ENSG00000205097 chr4:190027053-190027053;G/A missense_variant False FRG2@p.R98S 1 0.310344828 ENSG00000205097 chr4:190026421-190026421;T/A missense_variant False FRG2@p.L175F 1 0.157894737 ENSG00000205097 chr4:190025873-190025873;C/A missense_variant False FRG1@p.Y209D 1 0.372093023 ENSG00000109536 chr4:189960835-189960835;T/G missense_variant False FREM2@p.Y2411C 1 0.208588957 ENSG00000150893 chr13:38859303-38859303;A/G missense_variant False FREM2@p.T1441I 1 0.175824176 ENSG00000150893 chr13:38691666-38691666;C/T missense_variant False FREM2@p.P2400T 1 0.480519481 ENSG00000150893 chr13:38858016-38858016;C/A missense_variant False FREM2@p.S768L 1 0.336283186 ENSG00000150893 chr13:38689647-38689647;C/T missense_variant False FREM2@p.S2646L 1 0.216216216 ENSG00000150893 chr13:38864560-38864560;C/T missense_variant False FREM2@p.S1112L 1 0.112676056 ENSG00000150893 chr13:38690679-38690679;C/T missense_variant False FREM2@p.R308S 1 0.347222222 ENSG00000150893 chr13:38688268-38688268;G/T missense_variant False FREM2@p.R308M 1 0.338028169 ENSG00000150893 chr13:38688267-38688267;G/T missense_variant False FREM2@p.R2135Q 1 0.216216216 ENSG00000150893 chr13:38850062-38850062;G/A missense_variant False FRG2B@p.S14Y 1 0.067114094 ENSG00000225899 chr10:133626702-133626702;G/T missense_variant False FRG2B@p.S18F 1 0.106382979 ENSG00000225899 chr10:133626690-133626690;G/A missense_variant False FRG2C@p.D190Y 1 0.269230769 ENSG00000172969 chr3:75665760-75665760;G/T missense_variant False FRG2C@p.E239K 1 0.258823529 ENSG00000172969 chr3:75665907-75665907;G/A missense_variant False FRG2C@p.L203Q 1 0.077220077 ENSG00000172969 chr3:75665800-75665800;T/A missense_variant False FRG2C@p.L211R 1 0.142222222 ENSG00000172969 chr3:75665824-75665824;T/G missense_variant False FRG2C@p.W195R 1 0.086538462 ENSG00000172969 chr3:75665775-75665775;T/A missense_variant False FRK@p.I367M 1 0.1625 ENSG00000111816 chr6:115944283-115944283;G/C missense_variant False FRK@p.S102C 1 0.126829268 ENSG00000111816 chr6:116060007-116060007;G/C missense_variant False FRMD1@p.D121N 1 0.130952381 ENSG00000153303 chr6:168067390-168067390;C/T missense_variant False FRMD1@p.P242R 1 0.257142857 ENSG00000153303 chr6:168063680-168063680;G/C missense_variant False FRMD3@p.E392K 1 0.245283019 ENSG00000172159 chr9:83290624-83290624;C/T missense_variant False FRMD3@p.I36T 1 0.35483871 ENSG00000172159 chr9:83538125-83538125;A/G missense_variant False FRMD3@p.K347M 1 0.097222222 ENSG00000172159 chr9:83298778-83298778;T/A missense_variant False FRMD3@p.L264V 1 0.070422535 ENSG00000172159 chr9:83310532-83310532;A/C missense_variant False FRMD4A@p.D449N 1 0.135135135 ENSG00000151474 chr10:13670435-13670435;C/T missense_variant False FRMD4A@p.E426K 1 0.125 ENSG00000151474 chr10:13670504-13670504;C/T missense_variant False FREM2@p.P2792Q 1 0.07826087 ENSG00000150893 chr13:38876115-38876115;C/A missense_variant False FREM2@p.M2933I 1 0.278481013 ENSG00000150893 chr13:38878261-38878261;G/A missense_variant False FREM1@p.E2025Q 1 0.3125 ENSG00000164946 chr9:14746988-14746988;C/G missense_variant False FREM1@p.R194Q 1 0.4375 ENSG00000164946 chr9:14859233-14859233;C/T missense_variant False FREM2@p.D1219Y 1 0.26446281 ENSG00000150893 chr13:38690999-38690999;G/T missense_variant False FREM2@p.A258T 1 0.2 ENSG00000150893 chr13:38688116-38688116;G/A missense_variant False FREM2@p.A2481T 1 0.37037037 ENSG00000150893 chr13:38859512-38859512;G/A missense_variant False FREM1@p.W2112S 1 0.150793651 ENSG00000164946 chr9:14740154-14740154;C/G missense_variant False FREM1@p.S1972C 1 0.314814815 ENSG00000164946 chr9:14747358-14747358;G/C missense_variant False FREM1@p.R2167T 1 0.531914894 ENSG00000164946 chr9:14737436-14737436;C/G missense_variant False FREM1@p.Q187H 1 0.210526316 ENSG00000164946 chr9:14859253-14859253;C/A missense_variant False FREM2@p.L625I 1 0.442307692 ENSG00000150893 chr13:38689217-38689217;C/A missense_variant False FREM1@p.P626S 1 0.545454545 ENSG00000164946 chr9:14841452-14841452;G/A missense_variant False FREM1@p.P183L 1 0.083333333 ENSG00000164946 chr9:14859266-14859266;G/A missense_variant False FREM1@p.P1003S 1 0.117318436 ENSG00000164946 chr9:14808021-14808021;G/A missense_variant False FREM1@p.M1163I 1 0.6 ENSG00000164946 chr9:14801857-14801857;C/T missense_variant False FREM1@p.K2011N 1 0.64 ENSG00000164946 chr9:14747028-14747028;C/A missense_variant False FREM1@p.G829A 1 0.243902439 ENSG00000164946 chr9:14819294-14819294;C/G missense_variant False FREM2@p.D1448H 1 0.5 ENSG00000150893 chr13:38691686-38691686;G/C missense_variant False FREM2@p.D1633N 1 0.26984127 ENSG00000150893 chr13:38692241-38692241;G/A missense_variant False FREM2@p.D2245H 1 0.225352113 ENSG00000150893 chr13:38851099-38851099;G/C missense_variant False FREM2@p.E1972D 1 0.245614035 ENSG00000150893 chr13:38784705-38784705;G/C missense_variant False FREM2@p.E2021K 1 0.322580645 ENSG00000150893 chr13:38846614-38846614;G/A missense_variant False FREM2@p.E2890K 1 0.160606061 ENSG00000150893 chr13:38877240-38877240;G/A missense_variant False FREM2@p.E400K 1 0.141414141 ENSG00000150893 chr13:38688542-38688542;G/A missense_variant False FREM2@p.E413Q 1 0.113207547 ENSG00000150893 chr13:38688581-38688581;G/C missense_variant False FREM2@p.G2992A 1 0.244897959 ENSG00000150893 chr13:38878946-38878946;G/C missense_variant False FREM2@p.G8V 1 0.538461538 ENSG00000150893 chr13:38687367-38687367;G/T missense_variant False FREM2@p.H616P 1 0.333333333 ENSG00000150893 chr13:38689191-38689191;A/C missense_variant False FREM2@p.I2404M 1 0.316455696 ENSG00000150893 chr13:38858030-38858030;C/G missense_variant False FREM2@p.K2355Rfs*7 1 0.316455696 ENSG00000150893 chr13:38857879-38857880;-/GA frameshift_variant False FREM2@p.L468V 1 0.377358491 ENSG00000150893 chr13:38688746-38688746;T/G missense_variant False FREM2@p.L553S 1 0.361111111 ENSG00000150893 chr13:38689002-38689002;T/C missense_variant False FREM2@p.L569M 1 0.264705882 ENSG00000150893 chr13:38689049-38689049;C/A missense_variant False FREM2@p.L582F 1 0.431372549 ENSG00000150893 chr13:38689088-38689088;C/T missense_variant False FSHR@p.M649I 1 0.492063492 ENSG00000170820 chr2:48962874-48962874;C/T missense_variant False FSIP1@p.D520N 1 0.513761468 ENSG00000150667 chr15:39617876-39617876;C/T missense_variant False GABRA4@p.R353K 1 0.285714286 ENSG00000109158 chr4:46965046-46965046;C/T missense_variant False FZD6@p.R228K 1 0.295454545 ENSG00000164930 chr8:103324789-103324789;G/A missense_variant False FZD7@p.V109M 1 0.327868852 ENSG00000155760 chr2:202034972-202034972;G/A missense_variant False FZD7@p.K509N 1 0.140449438 ENSG00000155760 chr2:202036174-202036174;G/C missense_variant False FZD7@p.K460N 1 0.333333333 ENSG00000155760 chr2:202036027-202036027;G/C missense_variant False FZD7@p.E132Q 1 0.083333333 ENSG00000155760 chr2:202035041-202035041;G/C missense_variant False FZD6@p.S245C 1 0.377777778 ENSG00000164930 chr8:103324840-103324840;C/G missense_variant False FZD6@p.R416Q 1 0.184615385 ENSG00000164930 chr8:103325353-103325353;G/A missense_variant False FZD6@p.R225T 1 0.103448276 ENSG00000164930 chr8:103324780-103324780;G/C missense_variant False FZD8@p.F536L 1 0.391304348 ENSG00000177283 chr10:35639822-35639822;G/T missense_variant False FZD6@p.Q398H 1 0.264705882 ENSG00000164930 chr8:103325300-103325300;A/C missense_variant False FZD6@p.L64V 1 0.239583333 ENSG00000164930 chr8:103318602-103318602;C/G missense_variant False FZD6@p.L386F 1 0.154220779 ENSG00000164930 chr8:103325262-103325262;C/T missense_variant False FZD6@p.E408Q 1 0.362903226 ENSG00000164930 chr8:103325328-103325328;G/C missense_variant False FZD6@p.E349K 1 0.043956044 ENSG00000164930 chr8:103325151-103325151;G/A missense_variant False FZD6@p.D111N 1 0.136986301 ENSG00000164930 chr8:103318743-103318743;G/A missense_variant False FZD7@p.V476L 1 0.577777778 ENSG00000155760 chr2:202036073-202036073;G/T missense_variant False FZD8@p.S418L 1 0.406779661 ENSG00000177283 chr10:35640177-35640177;G/A missense_variant False FSIP1@p.I422V 1 0.43902439 ENSG00000150667 chr15:39618170-39618170;T/C missense_variant False G2E3@p.S468C 1 0.166666667 ENSG00000092140 chr14:30607972-30607972;C/G missense_variant False G3BP2@p.S263F 1 0.333333333 ENSG00000138757 chr4:75654020-75654020;G/A missense_variant False G3BP2@p.R452T 1 0.169014085 ENSG00000138757 chr4:75645524-75645524;C/G missense_variant False G3BP2@p.D320H 1 0.097402597 ENSG00000138757 chr4:75647128-75647128;C/G missense_variant False G3BP1@p.S39F 1 0.096774194 ENSG00000145907 chr5:151790343-151790343;C/T missense_variant False G3BP1@p.R335Gfs*2 1 0.405405405 ENSG00000145907 chr5:151800260-151800261;-/GGTGG frameshift_variant False G2E3@p.S591C 1 0.157894737 ENSG00000092140 chr14:30615447-30615447;C/G missense_variant False G2E3@p.R343T 1 0.230769231 ENSG00000092140 chr14:30605522-30605522;G/C missense_variant False FZD8@p.V386L 1 0.411764706 ENSG00000177283 chr10:35640274-35640274;C/A missense_variant False G2E3@p.E680Q 1 0.310344828 ENSG00000092140 chr14:30616451-30616451;G/C missense_variant False G2E3@p.E557K 1 0.15 ENSG00000092140 chr14:30612375-30612375;G/A missense_variant False FZR1@p.S137C 1 0.131578947 ENSG00000105325 chr19:3527002-3527002;C/G missense_variant False FZR1@p.P152T 1 0.228395062 ENSG00000105325 chr19:3527046-3527046;C/A missense_variant False FZD9@p.G343R 1 0.161290323 ENSG00000188763 chr7:73435034-73435034;G/A missense_variant False FZD9@p.E309Q 1 0.228915663 ENSG00000188763 chr7:73434932-73434932;G/C missense_variant False FZD5@p.S107L 1 0.441860465 ENSG00000163251 chr2:207768420-207768420;G/A missense_variant False FZD4@p.Q190E 1 0.128571429 ENSG00000174804 chr11:86952188-86952188;G/C missense_variant False FZD4@p.M120L 1 0.371428571 ENSG00000174804 chr11:86952398-86952398;T/G missense_variant False FYN@p.G155S 1 0.150537634 ENSG00000010810 chr6:111704083-111704083;C/T missense_variant False FYTTD1@p.S15Y 1 0.327586207 ENSG00000122068 chr3:197750015-197750015;C/A missense_variant False FYN@p.W149C 1 0.188235294 ENSG00000010810 chr6:111704099-111704099;C/G missense_variant False FYN@p.T73M 1 0.507462687 ENSG00000010810 chr6:111719834-111719834;G/A missense_variant False FYN@p.S70L 1 0.473684211 ENSG00000010810 chr6:111719843-111719843;G/A missense_variant False FYN@p.Q110E 1 0.186046512 ENSG00000010810 chr6:111714363-111714363;G/C missense_variant False FYN@p.L329P 1 0.568181818 ENSG00000010810 chr6:111696333-111696333;A/G missense_variant False FYCO1@p.Y155* 1 0.297142857 ENSG00000163820 chr3:45973164-45973165;AG/- frameshift_variant False FZD3@p.R401L 1 0.502857143 ENSG00000104290 chr8:28527962-28527962;G/T missense_variant False FYCO1@p.S1027C 1 0.254901961 ENSG00000163820 chr3:45965104-45965104;T/A missense_variant False FYCO1@p.E597D 1 0.154639175 ENSG00000163820 chr3:45967543-45967543;C/G missense_variant False FYCO1@p.E50Q 1 0.25 ENSG00000163820 chr3:45981584-45981584;C/G missense_variant False FYCO1@p.E33K 1 0.183673469 ENSG00000163820 chr3:45981635-45981635;C/T missense_variant False FYB2@p.R13G 1 0.085106383 ENSG00000187889 chr1:56792776-56792776;G/C missense_variant False FYB2@p.Q445H 1 0.152173913 ENSG00000187889 chr1:56751096-56751096;C/G missense_variant False FYTTD1@p.S16L 1 0.533333333 ENSG00000122068 chr3:197750018-197750018;C/T missense_variant False FZD10@p.E179Q 1 0.196428571 ENSG00000111432 chr12:130163477-130163477;G/C missense_variant False FZD10@p.E348D 1 0.277777778 ENSG00000111432 chr12:130163986-130163986;A/T missense_variant False FZD10@p.E63K 1 0.209302326 ENSG00000111432 chr12:130163129-130163129;G/A missense_variant False FZD10@p.G445W 1 0.361111111 ENSG00000111432 chr12:130164275-130164275;G/T missense_variant False FZD10@p.R255G 1 0.420560748 ENSG00000111432 chr12:130163705-130163705;C/G missense_variant False FZD10@p.R280H 1 0.295454545 ENSG00000111432 chr12:130163781-130163781;G/A missense_variant False FZD10@p.R545K 1 0.078125 ENSG00000111432 chr12:130164576-130164576;G/A missense_variant False FZD1@p.E149Q 1 0.333333333 ENSG00000157240 chr7:91265325-91265325;G/C missense_variant False FZD1@p.E352K 1 0.167938931 ENSG00000157240 chr7:91265934-91265934;G/A missense_variant False FZD1@p.P251T 1 0.333333333 ENSG00000157240 chr7:91265631-91265631;C/A missense_variant False FZD2@p.C121G 1 0.323308271 ENSG00000180340 chr17:44558049-44558049;T/G missense_variant False FZD2@p.F537L 1 0.2 ENSG00000180340 chr17:44559299-44559299;C/G missense_variant False FZD3@p.A328Hfs*15 1 0.266666667 ENSG00000104290 chr8:28527738-28527738;G/- frameshift_variant False FZD3@p.D132N 1 0.271186441 ENSG00000104290 chr8:28527154-28527154;G/A missense_variant False FZD3@p.E522D 1 0.194029851 ENSG00000104290 chr8:28555750-28555750;G/C missense_variant False FZD3@p.N283S 1 0.615384615 ENSG00000104290 chr8:28527608-28527608;A/G missense_variant False G3BP2@p.S99Y 1 0.063157895 ENSG00000138757 chr4:75657612-75657612;G/T missense_variant False G6PC2@p.E99K 1 0.175257732 ENSG00000152254 chr2:168902521-168902521;G/A missense_variant False G6PC2@p.L225F 1 0.172727273 ENSG00000152254 chr2:168907684-168907684;C/T missense_variant False GABPB2@p.I124M 1 0.72519084 ENSG00000143458 chr1:151093287-151093287;C/G missense_variant False GABRA1@p.P280T 1 0.41509434 ENSG00000022355 chr5:161891032-161891032;C/A missense_variant False GABRA1@p.N435T 1 0.515923567 ENSG00000022355 chr5:161897355-161897355;A/C missense_variant False GABRA1@p.L267I 1 0.4375 ENSG00000022355 chr5:161890993-161890993;C/A missense_variant False GABRA1@p.K183N 1 0.0546875 ENSG00000022355 chr5:161875632-161875632;A/C missense_variant False GABRA1@p.I395M 1 0.156462585 ENSG00000022355 chr5:161897236-161897236;A/G missense_variant False GABRA1@p.F325L 1 0.177419355 ENSG00000022355 chr5:161895782-161895782;T/C missense_variant False GABPB2@p.D258H 1 0.3125 ENSG00000143458 chr1:151107072-151107072;G/C missense_variant False GABBR2@p.T394M 1 0.463414634 ENSG00000136928 chr9:98454036-98454036;G/A missense_variant False GABPB1@p.T290A 1 0.283950617 ENSG00000104064 chr15:50289534-50289534;T/C missense_variant False GABPB1@p.K104N 1 0.126436782 ENSG00000104064 chr15:50303088-50303088;C/G missense_variant False GABPB1@p.D278N 1 0.377777778 ENSG00000104064 chr15:50289570-50289570;C/T missense_variant False GABPA@p.I210V 1 0.127906977 ENSG00000154727 chr21:25758084-25758084;A/G missense_variant False GABPA@p.E420K 1 0.272108844 ENSG00000154727 chr21:25769125-25769125;G/A missense_variant False GABPA@p.D229Y 1 0.291666667 ENSG00000154727 chr21:25758141-25758141;G/T missense_variant False GABRA1@p.R147L 1 0.104166667 ENSG00000022355 chr5:161873301-161873301;G/T missense_variant False GABRA1@p.R94C 1 0.428571429 ENSG00000022355 chr5:161873141-161873141;C/T missense_variant False GABRA1@p.V207G 1 0.428571429 ENSG00000022355 chr5:161882618-161882618;T/G missense_variant False GABRA1@p.V334E 1 0.766917293 ENSG00000022355 chr5:161895810-161895810;T/A missense_variant False GABRA2@p.D345N 1 0.224489796 ENSG00000151834 chr4:46261952-46261952;C/T missense_variant False GABRA2@p.P124A 1 0.23943662 ENSG00000151834 chr4:46312602-46312602;G/C missense_variant False GABRA2@p.Q223R 1 0.268292683 ENSG00000151834 chr4:46305603-46305603;T/C missense_variant False GABRA2@p.S213C 1 0.177966102 ENSG00000151834 chr4:46305633-46305633;G/C missense_variant False GABRA3@p.P167H 1 0.777777778 ENSG00000011677 chrX:152255829-152255829;G/T missense_variant False GABRA3@p.R326I 1 0.452830189 ENSG00000011677 chrX:152189896-152189896;C/A missense_variant False GABRA4@p.A375D 1 0.287878788 ENSG00000109158 chr4:46964980-46964980;G/T missense_variant False GABRA4@p.I524V 1 0.396825397 ENSG00000109158 chr4:46928320-46928320;T/C missense_variant False GABRA4@p.M122I 1 0.25 ENSG00000109158 chr4:46977538-46977538;C/T missense_variant False GABRA4@p.M386V 1 0.296296296 ENSG00000109158 chr4:46928734-46928734;T/C missense_variant False GABRA4@p.P130L 1 0.485294118 ENSG00000109158 chr4:46977515-46977515;G/A missense_variant False GABRA4@p.P366A 1 0.205357143 ENSG00000109158 chr4:46965008-46965008;G/C missense_variant False GABRA4@p.Q347E 1 0.27 ENSG00000109158 chr4:46965065-46965065;G/C missense_variant False GABPA@p.A412V 1 0.369565217 ENSG00000154727 chr21:25769102-25769102;C/T missense_variant False GABBR2@p.I611M 1 0.162790698 ENSG00000136928 chr9:98362775-98362775;G/C missense_variant False G6PC3@p.A271S 1 0.11627907 ENSG00000141349 chr17:44075813-44075813;G/T missense_variant False GAB1@p.D370N 1 0.215384615 ENSG00000109458 chr4:143438513-143438513;G/A missense_variant False GAB2@p.D537N 1 0.134615385 ENSG00000033327 chr11:78222154-78222154;C/T missense_variant False GAB1@p.P159T 1 0.2 ENSG00000109458 chr4:143433598-143433598;C/A missense_variant False GAB1@p.M240I 1 0.343283582 ENSG00000109458 chr4:143438125-143438125;G/A missense_variant False GAB1@p.K671N 1 0.285714286 ENSG00000109458 chr4:143469117-143469117;G/C missense_variant False GAB1@p.G71R 1 0.294117647 ENSG00000109458 chr4:143415615-143415615;G/A missense_variant False GAB1@p.G486E 1 0.576470588 ENSG00000109458 chr4:143440254-143440254;G/A missense_variant False GAA@p.Y366C 1 0.276595745 ENSG00000171298 chr17:80108510-80108510;A/G missense_variant False GABBR2@p.F117L 1 0.21978022 ENSG00000136928 chr9:98578043-98578043;G/C missense_variant False GAA@p.R870Q 1 0.451282051 ENSG00000171298 chr17:80118320-80118320;G/A missense_variant False GAA@p.M519I 1 0.229357798 ENSG00000171298 chr17:80110946-80110946;G/A missense_variant False GAA@p.M440V 1 0.45 ENSG00000171298 chr17:80108820-80108820;A/G missense_variant False G6PD@p.E347Q 1 0.060869565 ENSG00000160211 chrX:154532954-154532954;C/G missense_variant False G6PD@p.E244Q 1 0.6 ENSG00000160211 chrX:154534075-154534075;C/G missense_variant False G6PC@p.G112E 1 0.232323232 None chr17:42904035-42904035;G/A missense_variant False GAB2@p.E407Q 1 0.321428571 ENSG00000033327 chr11:78225191-78225191;C/G missense_variant False GAB2@p.K77Q 1 0.42 ENSG00000033327 chr11:78280748-78280748;T/G missense_variant False GAB2@p.R500Q 1 0.376 ENSG00000033327 chr11:78223480-78223480;C/T missense_variant False GAB2@p.T494K 1 0.131944444 ENSG00000033327 chr11:78223498-78223498;G/T missense_variant False GAB2@p.V498M 1 0.611510791 ENSG00000033327 chr11:78223487-78223487;C/T missense_variant False GAB2@p.Y48C 1 0.350877193 ENSG00000033327 chr11:78280834-78280834;T/C missense_variant False GAB3@p.E79Q 1 0.590062112 ENSG00000160219 chrX:154716167-154716167;C/G missense_variant False GAB4@p.E52D 1 0.5 ENSG00000215568 chr22:17007959-17007959;C/A missense_variant False GAB4@p.L390F 1 0.16 ENSG00000215568 chr22:16966220-16966220;G/A missense_variant False GAB4@p.R137T 1 0.068767908 ENSG00000215568 chr22:16991941-16991941;C/G missense_variant False GAB4@p.S398C 1 0.132352941 ENSG00000215568 chr22:16966195-16966195;G/C missense_variant False GABARAP@p.V83I 1 0.313043478 ENSG00000170296 chr17:7241383-7241383;C/T missense_variant False GABBR1@p.G364R 1 0.448598131 ENSG00000204681 chr6:29621793-29621793;C/T missense_variant False GABBR1@p.R44W 1 0.303703704 ENSG00000204681 chr6:29631555-29631555;G/A missense_variant False GABBR1@p.R490C 1 0.220930233 ENSG00000204681 chr6:29613341-29613341;G/A missense_variant False GABBR1@p.S918F 1 0.2 ENSG00000204681 chr6:29603676-29603676;G/A missense_variant False GABBR1@p.T115M 1 0.283333333 ENSG00000204681 chr6:29630589-29630589;G/A missense_variant False FYB2@p.K533R 1 0.463917526 ENSG00000187889 chr1:56742167-56742167;T/C missense_variant False FYB2@p.E623Q 1 0.225806452 ENSG00000187889 chr1:56726510-56726510;C/G missense_variant False FYB2@p.E418Q 1 0.277777778 ENSG00000187889 chr1:56751179-56751179;C/G missense_variant False FTHL17@p.D85Y 1 0.381818182 ENSG00000132446 chrX:31071701-31071701;C/A missense_variant False FTL@p.Q4H 1 0.388349515 ENSG00000087086 chr19:48965519-48965519;G/T missense_variant False FTL@p.E104D 1 0.456140351 ENSG00000087086 chr19:48966343-48966343;G/T missense_variant False FTL@p.D147Gfs*25 1 0.235294118 ENSG00000087086 chr19:48966645-48966670;TGACCACCTGACCAACCTCCACAGGC/- frameshift_variant False FTHL17@p.Q113H 1 0.263157895 ENSG00000132446 chrX:31071615-31071615;C/G missense_variant False FTHL17@p.M71I 1 0.727272727 ENSG00000132446 chrX:31071741-31071741;C/T missense_variant False FTHL17@p.F53L 1 0.2 ENSG00000132446 chrX:31071795-31071795;G/T missense_variant False FTH1@p.L170V 1 0.262626263 ENSG00000167996 chr11:61964771-61964771;G/C missense_variant False FSTL5@p.V527A 1 0.3 ENSG00000168843 chr4:161481048-161481048;A/G missense_variant False FTH1@p.E95D 1 0.126811594 ENSG00000167996 chr11:61965089-61965089;C/G missense_variant False FTH1@p.E62Q 1 0.118959108 ENSG00000167996 chr11:61965446-61965446;C/G missense_variant False FTH1@p.E135K 1 0.518518519 ENSG00000167996 chr11:61964876-61964876;C/T missense_variant False FTCD@p.K427R 1 0.935483871 ENSG00000160282 chr21:46138904-46138904;T/C missense_variant False FTCD@p.K427N 1 0.388235294 ENSG00000160282 chr21:46138903-46138903;C/A missense_variant False FSTL5@p.Y160H 1 0.25 ENSG00000168843 chr4:161776006-161776006;A/G missense_variant False FTMT@p.Q172L 1 0.259259259 ENSG00000181867 chr5:121852478-121852478;A/T missense_variant False FTMT@p.R67Q 1 0.5 ENSG00000181867 chr5:121852163-121852163;G/A missense_variant False FTO@p.E424Q 1 0.340425532 ENSG00000140718 chr16:53934015-53934015;G/C missense_variant False FTO@p.S123F 1 0.379310345 ENSG00000140718 chr16:53826108-53826108;C/T missense_variant False FTO@p.S260F 1 0.360655738 ENSG00000140718 chr16:53844182-53844182;C/T missense_variant False FTSJ3@p.E239K 1 0.171428571 ENSG00000108592 chr17:63824926-63824926;C/T missense_variant False FTSJ3@p.E279Q 1 0.157232704 ENSG00000108592 chr17:63824719-63824719;C/G missense_variant False FTSJ3@p.E362Q 1 0.225108225 ENSG00000108592 chr17:63824154-63824154;C/G missense_variant False FTSJ3@p.G816A 1 0.537634409 ENSG00000108592 chr17:63819899-63819899;C/G missense_variant False FTSJ3@p.I290L 1 0.365930599 ENSG00000108592 chr17:63824686-63824686;T/A missense_variant False FTSJ3@p.K741E 1 0.065217391 ENSG00000108592 chr17:63820290-63820290;T/C missense_variant False FTSJ3@p.P451S 1 0.327586207 ENSG00000108592 chr17:63822108-63822108;G/A missense_variant False FTSJ3@p.R682T 1 0.23880597 ENSG00000108592 chr17:63820866-63820866;C/G missense_variant False FUBP1@p.G216A 1 0.055045872 ENSG00000162613 chr1:77964958-77964958;C/G missense_variant True FUBP1@p.G355V 1 0.146341463 ENSG00000162613 chr1:77963693-77963693;C/A missense_variant True FUBP1@p.L235V 1 0.174496644 ENSG00000162613 chr1:77964902-77964902;G/C missense_variant True FUBP1@p.P175S 1 0.17679558 ENSG00000162613 chr1:77965182-77965182;G/A missense_variant True FSTL5@p.W843C 1 0.253521127 ENSG00000168843 chr4:161385762-161385762;C/A missense_variant False FSTL5@p.R352T 1 0.415730337 ENSG00000168843 chr4:161542654-161542654;C/G missense_variant False FUBP3@p.I377M 1 0.309090909 ENSG00000107164 chr9:130630641-130630641;C/G missense_variant False FSIP2@p.E5776D 1 0.53125 ENSG00000188738 chr2:185806634-185806634;A/C missense_variant False FSIP2@p.R5650Q 1 0.450980392 ENSG00000188738 chr2:185806255-185806255;G/A missense_variant False FSIP2@p.L5638I 1 0.138888889 ENSG00000188738 chr2:185806218-185806218;C/A missense_variant False FSIP2@p.E6659K 1 0.157894737 ENSG00000188738 chr2:185813692-185813692;G/A missense_variant False FSIP2@p.E6515Q 1 0.285714286 ENSG00000188738 chr2:185808849-185808849;G/C missense_variant False FSIP2@p.E6392K 1 0.481481481 ENSG00000188738 chr2:185808480-185808480;G/A missense_variant False FSIP2@p.E6037K 1 0.131868132 ENSG00000188738 chr2:185807415-185807415;G/A missense_variant False FSIP2@p.E5655K 1 0.2 ENSG00000188738 chr2:185806269-185806269;G/A missense_variant False FSTL5@p.Q473R 1 0.727272727 ENSG00000168843 chr4:161500056-161500056;T/C missense_variant False FSIP2@p.E5436K 1 0.266666667 ENSG00000188738 chr2:185805612-185805612;G/A missense_variant False FSIP2@p.D6509H 1 0.226415094 ENSG00000188738 chr2:185808831-185808831;G/C missense_variant False FSIP2@p.D6468H 1 0.428571429 ENSG00000188738 chr2:185808708-185808708;G/C missense_variant False FSIP2@p.D6442N 1 0.210526316 ENSG00000188738 chr2:185808630-185808630;G/A missense_variant False FSIP2@p.D6076N 1 0.244444444 ENSG00000188738 chr2:185807532-185807532;G/A missense_variant False FSIP1@p.P306L 1 0.217391304 ENSG00000150667 chr15:39726722-39726722;G/A missense_variant False FSIP2@p.R6897I 1 0.113207547 ENSG00000188738 chr2:185833192-185833192;G/T missense_variant False FST@p.D280H 1 0.324074074 ENSG00000134363 chr5:53485113-53485113;G/C missense_variant False FST@p.E67Q 1 0.219512195 ENSG00000134363 chr5:53482993-53482993;G/C missense_variant False FST@p.V44F 1 0.344827586 ENSG00000134363 chr5:53482924-53482924;G/T missense_variant False FSTL3@p.R178Q 1 0.4 ENSG00000070404 chr19:681360-681360;G/A missense_variant False FSTL4@p.E198Q 1 0.206521739 ENSG00000053108 chr5:133316470-133316470;C/G missense_variant False FSTL4@p.E758Q 1 0.14893617 ENSG00000053108 chr5:133199352-133199352;C/G missense_variant False FSTL4@p.E841K 1 0.222222222 ENSG00000053108 chr5:133199103-133199103;C/T missense_variant False FSTL4@p.I430T 1 0.205479452 ENSG00000053108 chr5:133225173-133225173;A/G missense_variant False FSTL4@p.P99S 1 0.3 ENSG00000053108 chr5:133400852-133400852;G/A missense_variant False FSTL4@p.R72Q 1 0.553191489 ENSG00000053108 chr5:133400932-133400932;C/T missense_variant False FSTL4@p.S505F 1 0.323529412 ENSG00000053108 chr5:133217323-133217323;G/A missense_variant False FSTL4@p.S732L 1 0.309090909 ENSG00000053108 chr5:133199429-133199429;G/A missense_variant False FSTL5@p.D522G 1 0.481481481 ENSG00000168843 chr4:161481063-161481063;T/C missense_variant False FSTL5@p.D550H 1 0.181818182 ENSG00000168843 chr4:161459280-161459280;C/G missense_variant False FSTL5@p.I197M 1 0.147058824 ENSG00000168843 chr4:161775893-161775893;A/C missense_variant False FSTL5@p.M37I 1 0.141414141 ENSG00000168843 chr4:162111286-162111286;C/G missense_variant False FUBP1@p.R359Q 1 0.369863014 ENSG00000162613 chr1:77963681-77963681;C/T missense_variant True FUBP3@p.P395L 1 0.054545455 ENSG00000107164 chr9:130630694-130630694;C/T missense_variant False FYB2@p.E123Q 1 0.066666667 ENSG00000187889 chr1:56792446-56792446;C/G missense_variant False FUT8@p.S270F 1 0.53164557 ENSG00000033170 chr14:65669454-65669454;C/T missense_variant False FUZ@p.E87K 1 0.166666667 ENSG00000010361 chr19:49812310-49812310;C/T missense_variant False FUZ@p.E192K 1 0.25 ENSG00000010361 chr19:49809494-49809494;C/T missense_variant False FUT9@p.I281V 1 0.785714286 ENSG00000172461 chr6:96203996-96203996;A/G missense_variant False FUT9@p.E149K 1 0.438596491 ENSG00000172461 chr6:96203600-96203600;G/A missense_variant False FUT8@p.T252A 1 0.180327869 ENSG00000033170 chr14:65669399-65669399;A/G missense_variant False FUT8@p.T20P 1 0.575163399 ENSG00000033170 chr14:65561621-65561621;A/C missense_variant False FUT8@p.G526A 1 0.097938144 ENSG00000033170 chr14:65742259-65742259;G/C missense_variant False FUT4@p.D202N 1 0.447368421 ENSG00000196371 chr11:94544737-94544737;G/A missense_variant False FUT7@p.S163L 1 0.6 ENSG00000180549 chr9:137031251-137031251;G/A missense_variant False FUT6@p.Q38E 1 0.3 ENSG00000156413 chr19:5832456-5832456;G/C missense_variant False FUT5@p.S263C 1 0.455445545 ENSG00000130383 chr19:5866938-5866938;G/C missense_variant False FUT5@p.R342C 1 0.175 ENSG00000130383 chr19:5866702-5866702;G/A missense_variant False FUT5@p.A353T 1 0.857142857 ENSG00000130383 chr19:5866669-5866669;C/T missense_variant False FUT4@p.L280P 1 0.388888889 ENSG00000196371 chr11:94544972-94544972;T/C missense_variant False FUZ@p.E87_R97del 1 0.140350877 ENSG00000010361 chr19:49812279-49812311;CTCTCCAGCCTCAGCTCAGAGATGCCCACCTCA/- inframe_deletion False FUZ@p.R363T 1 0.161290323 ENSG00000010361 chr19:49807320-49807320;C/G missense_variant False FUZ@p.S74G 1 0.467741935 ENSG00000010361 chr19:49812628-49812628;T/C missense_variant False FXN@p.A113T 1 0.103896104 ENSG00000285130 chr9:69072691-69072691;G/A missense_variant False FXR1@p.D512N 1 0.225 ENSG00000114416 chr3:180970289-180970289;G/A missense_variant False FXR1@p.R430Q 1 0.231292517 ENSG00000114416 chr3:180968141-180968141;G/A missense_variant False FXR2@p.E185Q 1 0.903225806 ENSG00000129245 chr17:7601516-7601516;C/G missense_variant False FXR2@p.L193M 1 0.26056338 ENSG00000129245 chr17:7601492-7601492;G/T missense_variant False FXR2@p.R123W 1 0.423076923 ENSG00000129245 chr17:7603839-7603839;G/A missense_variant False FXR2@p.R476Q 1 0.523809524 ENSG00000129245 chr17:7593085-7593085;C/T missense_variant False FXYD4@p.E75Q 1 0.125 ENSG00000150201 chr10:43376042-43376042;G/C missense_variant False FXYD5@p.E109D 1 0.222222222 ENSG00000089327 chr19:35164190-35164190;G/C missense_variant False FXYD5@p.R145W 1 0.290909091 ENSG00000089327 chr19:35166271-35166271;C/T missense_variant False FXYD6@p.S50L 1 0.357142857 ENSG00000137726 chr11:117841814-117841814;G/A missense_variant False FYB1@p.F180C 1 0.512820513 ENSG00000082074 chr5:39202422-39202422;A/C missense_variant False FYB1@p.L173F 1 0.205673759 ENSG00000082074 chr5:39202442-39202442;C/G missense_variant False FYB1@p.S220C 1 0.127753304 ENSG00000082074 chr5:39202302-39202302;G/C missense_variant False FUT4@p.E298Q 1 0.233333333 ENSG00000196371 chr11:94545025-94545025;G/C missense_variant False FUT4@p.D202H 1 0.36 ENSG00000196371 chr11:94544737-94544737;G/C missense_variant False FUCA1@p.E317K 1 0.393939394 ENSG00000179163 chr1:23854380-23854380;C/T missense_variant False FURIN@p.R282Q 1 0.19047619 ENSG00000140564 chr15:90878768-90878768;G/A missense_variant False FUT10@p.D263N 1 0.272727273 ENSG00000172728 chr8:33389388-33389388;C/T missense_variant False FUS@p.I351V 1 0.428571429 ENSG00000089280 chr16:31189779-31189779;A/G missense_variant False FUS@p.G172A 1 0.173076923 ENSG00000089280 chr16:31184388-31184388;G/C missense_variant False FUS@p.E516Q 1 0.285714286 ENSG00000089280 chr16:31191403-31191403;G/C missense_variant False FUS@p.D471G 1 0.337016575 ENSG00000089280 chr16:31190981-31190981;A/G missense_variant False FURIN@p.R677Q 1 0.151515152 ENSG00000140564 chr15:90881523-90881523;G/A missense_variant False FURIN@p.E541K 1 0.416666667 ENSG00000140564 chr15:90880755-90880755;G/A missense_variant False FUT3@p.R329C 1 0.318181818 ENSG00000171124 chr19:5843855-5843855;G/A missense_variant False FUNDC2@p.L184M 1 0.666666667 ENSG00000165775 chrX:155054652-155054652;C/A missense_variant False FUCA2@p.H188Y 1 0.196428571 ENSG00000001036 chr6:143504103-143504103;G/A missense_variant False FUCA2@p.E317K 1 0.098360656 ENSG00000001036 chr6:143502369-143502369;C/T missense_variant False FUCA2@p.E164K 1 0.188118812 ENSG00000001036 chr6:143504175-143504175;C/T missense_variant False FUCA2@p.E101K 1 0.062146893 ENSG00000001036 chr6:143507348-143507348;C/T missense_variant False FUCA2@p.D160N 1 0.494505495 ENSG00000001036 chr6:143504187-143504187;C/T missense_variant False FUT10@p.H117Y 1 0.333333333 ENSG00000172728 chr8:33453243-33453243;G/A missense_variant False FUT10@p.K356N 1 0.363636364 ENSG00000172728 chr8:33389107-33389107;C/G missense_variant False FUT10@p.R138W 1 0.328125 ENSG00000172728 chr8:33389763-33389763;G/A missense_variant False FUT10@p.R210T 1 0.336734694 ENSG00000172728 chr8:33389546-33389546;C/G missense_variant False FUT10@p.S468L 1 0.909090909 ENSG00000172728 chr8:33372614-33372614;G/A missense_variant False FUT11@p.S175W 1 0.339285714 ENSG00000196968 chr10:73772857-73772857;C/G missense_variant False FUT11@p.T290S 1 0.341772152 ENSG00000196968 chr10:73773349-73773349;A/T missense_variant False FUT1@p.G35D 1 0.216 ENSG00000174951 chr19:48751178-48751178;C/T missense_variant False FUT1@p.R108H 1 0.11627907 ENSG00000174951 chr19:48750959-48750959;C/T missense_variant False FUT2@p.D274H 1 0.294117647 ENSG00000176920 chr19:48703776-48703776;G/C missense_variant False FUT2@p.G193V 1 0.394736842 ENSG00000176920 chr19:48703534-48703534;G/T missense_variant False FUT2@p.G301E 1 0.183673469 ENSG00000176920 chr19:48703858-48703858;G/A missense_variant False FUT2@p.H14N 1 0.242424242 ENSG00000176920 chr19:48702996-48702996;C/A missense_variant False FUT2@p.L277V 1 0.371134021 ENSG00000176920 chr19:48703785-48703785;C/G missense_variant False FUT2@p.R175Q 1 0.16 ENSG00000176920 chr19:48703480-48703480;G/A missense_variant False FUT3@p.E173K 1 0.320754717 ENSG00000171124 chr19:5844323-5844323;C/T missense_variant False FUT3@p.I133M 1 0.317073171 ENSG00000171124 chr19:5844441-5844441;G/C missense_variant False GDI1@p.M434I 1 0.281690141 ENSG00000203879 chrX:154442630-154442630;G/A missense_variant False GDI2@p.D416N 1 0.179245283 ENSG00000057608 chr10:5766098-5766098;C/T missense_variant False GDI2@p.K164R 1 0.402597403 ENSG00000057608 chr10:5785948-5785948;T/C missense_variant False GOLGB1@p.E2859Q 1 0.321428571 ENSG00000173230 chr3:121690774-121690774;C/G missense_variant False GOLGB1@p.M1927L 1 0.396825397 ENSG00000173230 chr3:121694729-121694729;T/A missense_variant False GOLGB1@p.L2897F 1 0.107344633 ENSG00000173230 chr3:121681854-121681854;C/G missense_variant False GOLGB1@p.K3117N 1 0.078125 ENSG00000173230 chr3:121668114-121668114;C/G missense_variant False GOLGB1@p.I2974V 1 0.2 ENSG00000173230 chr3:121677389-121677389;T/C missense_variant False GOLGB1@p.E541Q 1 0.194594595 ENSG00000173230 chr3:121698887-121698887;C/G missense_variant False GOLGB1@p.E286V 1 0.4 ENSG00000173230 chr3:121718401-121718401;T/A missense_variant False GOLGB1@p.E2707Q 1 0.035545024 ENSG00000173230 chr3:121691230-121691230;C/G missense_variant False GOLGB1@p.Q2922K 1 0.107142857 ENSG00000173230 chr3:121681781-121681781;G/T missense_variant False GOLGB1@p.E2504D 1 0.493617021 ENSG00000173230 chr3:121691837-121691837;C/G missense_variant False GOLGB1@p.E2329K 1 0.157360406 ENSG00000173230 chr3:121692364-121692364;C/T missense_variant False GOLGB1@p.E227Q 1 0.094339623 ENSG00000173230 chr3:121719723-121719723;C/G missense_variant False GOLGB1@p.E2132Q 1 0.112857143 ENSG00000173230 chr3:121694114-121694114;C/G missense_variant False GOLGB1@p.E1869D 1 0.163865546 ENSG00000173230 chr3:121694901-121694901;C/G missense_variant False GOLGB1@p.E1755Q 1 0.209302326 ENSG00000173230 chr3:121695245-121695245;C/G missense_variant False GOLGB1@p.N731I 1 0.169811321 ENSG00000173230 chr3:121698316-121698316;T/A missense_variant False GOLGB1@p.Q752K 1 0.154411765 ENSG00000173230 chr3:121698254-121698254;G/T missense_variant False GPANK1@p.R3W 1 0.279069767 ENSG00000204438 chr6:31664472-31664472;G/A missense_variant False GOLGB1@p.T1807A 1 0.502673797 ENSG00000173230 chr3:121695089-121695089;T/C missense_variant False GOLM2@p.E365Q 1 0.1 ENSG00000166734 chr15:44402907-44402907;G/C missense_variant False GOLIM4@p.Q437H 1 0.269230769 ENSG00000173905 chr3:168029902-168029902;C/G missense_variant False GOLIM4@p.P296L 1 0.525 ENSG00000173905 chr3:168032809-168032809;G/A missense_variant False GOLIM4@p.E657K 1 0.063492063 ENSG00000173905 chr3:168010391-168010391;C/T missense_variant False GOLIM4@p.E467Q 1 0.178571429 ENSG00000173905 chr3:168029814-168029814;C/G missense_variant False GOLIM4@p.E300K 1 0.427586207 ENSG00000173905 chr3:168032798-168032798;C/T missense_variant False GOLGB1@p.T1358Lfs*22 1 0.116981132 ENSG00000173230 chr3:121696425-121696440;ATGGGATACTGTCTTT/- frameshift_variant False GOLGB1@p.R1492Q 1 0.124031008 ENSG00000173230 chr3:121696033-121696033;C/T missense_variant False GOLGB1@p.S379C 1 0.242424242 ENSG00000173230 chr3:121716874-121716874;G/C missense_variant False GOLGB1@p.S2465C 1 0.417525773 ENSG00000173230 chr3:121691955-121691955;G/C missense_variant False GOLGB1@p.S1719F 1 0.305343511 ENSG00000173230 chr3:121695352-121695352;G/A missense_variant False GOLGB1@p.R746T 1 0.270491803 ENSG00000173230 chr3:121698271-121698271;C/G missense_variant False GOLGB1@p.R2297H 1 0.130841121 ENSG00000173230 chr3:121692459-121692459;C/T missense_variant False GOLGB1@p.R2241T 1 0.126760563 ENSG00000173230 chr3:121693786-121693786;C/G missense_variant False GOLGB1@p.E1661K 1 0.043137255 ENSG00000173230 chr3:121695527-121695527;C/T missense_variant False GOLGB1@p.E1368K 1 0.671457906 ENSG00000173230 chr3:121696406-121696406;C/T missense_variant False GOLGB1@p.E1031Q 1 0.157894737 ENSG00000173230 chr3:121697417-121697417;C/G missense_variant False GOLGA4@p.E2190Q 1 0.437837838 ENSG00000144674 chr3:37347288-37347288;G/C missense_variant False GOLGA4@p.Q372H 1 0.54 ENSG00000144674 chr3:37302214-37302214;G/C missense_variant False GOLGA4@p.Q347H 1 0.078947368 ENSG00000144674 chr3:37299326-37299326;G/C missense_variant False GOLGA4@p.M240I 1 0.135714286 ENSG00000144674 chr3:37296125-37296125;G/A missense_variant False GOLGA4@p.L224V 1 0.300813008 ENSG00000144674 chr3:37295066-37295066;C/G missense_variant False GOLGA4@p.K1822N 1 0.339805825 ENSG00000144674 chr3:37327352-37327352;A/C missense_variant False GOLGA4@p.H778N 1 0.396825397 ENSG00000144674 chr3:37324218-37324218;C/A missense_variant False GOLGA4@p.E2131G 1 0.104166667 ENSG00000144674 chr3:37337730-37337730;A/G missense_variant False GOLGB1@p.D531H 1 0.2 ENSG00000173230 chr3:121698917-121698917;C/G missense_variant False GOLGA4@p.E2093K 1 0.454545455 ENSG00000144674 chr3:37335137-37335137;G/A missense_variant False GOLGA4@p.E11K 1 0.55 ENSG00000144674 chr3:37243581-37243581;G/A missense_variant False GOLGA4@p.D108H 1 0.055555556 ENSG00000144674 chr3:37282117-37282117;G/C missense_variant False GOLGA4@p.A546V 1 0.333333333 ENSG00000144674 chr3:37321822-37321822;C/T missense_variant False GOLGA4@p.A1935Qfs*22 1 0.36 ENSG00000144674 chr3:37327686-37327686;G/- frameshift_variant False GOLGA3@p.S259Y 1 0.371859296 ENSG00000090615 chr12:132808293-132808293;G/T missense_variant False GOLGA4@p.S1291Y 1 0.317073171 ENSG00000144674 chr3:37325758-37325758;C/A missense_variant False GOLGA4@p.S1726F 1 0.04137931 ENSG00000144674 chr3:37327063-37327063;C/T missense_variant False GOLGA4@p.S708C 1 0.509803922 ENSG00000144674 chr3:37324009-37324009;C/G missense_variant False GOLGA4@p.S97Y 1 0.18 ENSG00000144674 chr3:37282085-37282085;C/A missense_variant False GOLGA5@p.E391K 1 0.206896552 ENSG00000066455 chr14:92811605-92811605;G/A missense_variant False GOLGA5@p.P104S 1 0.228571429 ENSG00000066455 chr14:92797747-92797747;C/T missense_variant False GOLGA5@p.Q243E 1 0.162790698 ENSG00000066455 chr14:92806918-92806918;C/G missense_variant False GOLGA5@p.Q584K 1 0.251908397 ENSG00000066455 chr14:92833152-92833152;C/A missense_variant False GOLGA5@p.Q593K 1 0.302631579 ENSG00000066455 chr14:92833179-92833179;C/A missense_variant False GOLGA5@p.R590Q 1 0.280701754 ENSG00000066455 chr14:92833171-92833171;G/A missense_variant False GOLGA6A@p.L488I 1 0.138888889 ENSG00000159289 chr15:74072781-74072781;G/T missense_variant False GOLGA6B@p.T373M 1 0.117824773 ENSG00000215186 chr15:72662522-72662522;C/T missense_variant False GOLGA6L22@p.T50A 1 0.295081967 ENSG00000277865 chr15:22460916-22460916;A/G missense_variant False GOLGA8A@p.E568Q 1 0.1 ENSG00000175265 chr15:34381605-34381605;C/G missense_variant False GOLGA8A@p.V597A 1 0.203252033 ENSG00000175265 chr15:34381517-34381517;A/G missense_variant False GOLGB1@p.C1811Y 1 0.393129771 ENSG00000173230 chr3:121695076-121695076;C/T missense_variant False GOLGB1@p.D1881G 1 0.290322581 ENSG00000173230 chr3:121694866-121694866;T/C missense_variant False GOLM2@p.E416K 1 0.075949367 ENSG00000166734 chr15:44413341-44413341;G/A missense_variant False GOLM2@p.E64K 1 0.222222222 ENSG00000166734 chr15:44289219-44289219;G/A missense_variant False GOLM2@p.G203V 1 0.176470588 ENSG00000166734 chr15:44337794-44337794;G/T missense_variant False GP2@p.L529M 1 0.440366972 ENSG00000169347 chr16:20311252-20311252;G/T missense_variant False GP6@p.I247M 1 0.222222222 ENSG00000088053 chr19:55015717-55015717;G/C missense_variant False GP5@p.R481H 1 0.438356164 ENSG00000178732 chr3:194396841-194396841;C/T missense_variant False GP2@p.T391Lfs*4 1 0.2 ENSG00000169347 chr16:20318275-20318276;GT/- frameshift_variant False GP2@p.S392F 1 0.373333333 ENSG00000169347 chr16:20318272-20318272;G/A missense_variant False GP2@p.P36L 1 0.272727273 ENSG00000169347 chr16:20324244-20324244;G/A missense_variant False GP2@p.P2A 1 0.684684685 ENSG00000169347 chr16:20326428-20326428;G/C missense_variant False GP2@p.L23M 1 0.127659574 ENSG00000169347 chr16:20326365-20326365;G/T missense_variant False GOSR1@p.K144Yfs*2 1 0.183673469 ENSG00000108587 chr17:30490203-30490207;ACGAA/- frameshift_variant False GP2@p.D311H 1 0.827160494 ENSG00000169347 chr16:20319705-20319705;C/G missense_variant False GP1BA@p.S267L 1 0.142857143 ENSG00000185245 chr17:4933404-4933404;C/T missense_variant False GP1BA@p.Q106K 1 0.374269006 ENSG00000185245 chr17:4932920-4932920;C/A missense_variant False GOT1L1@p.T298N 1 0.831460674 ENSG00000169154 chr8:37935740-37935740;G/T missense_variant False GOT1L1@p.E393V 1 0.340909091 ENSG00000169154 chr8:37934381-37934381;T/A missense_variant False GOT1@p.S85F 1 0.392857143 ENSG00000120053 chr10:99420670-99420670;G/A missense_variant False GP6@p.L33V 1 0.405405405 ENSG00000088053 chr19:55032367-55032367;G/C missense_variant False GP9@p.D81N 1 0.2 ENSG00000169704 chr3:129061980-129061980;G/A missense_variant False GP9@p.G69E 1 0.25 ENSG00000169704 chr3:129061945-129061945;G/A missense_variant False GP9@p.P21L 1 0.647058824 ENSG00000169704 chr3:129061801-129061801;C/T missense_variant False GPA33@p.S75L 1 0.275 ENSG00000143167 chr1:167069113-167069113;G/A missense_variant False GPA33@p.S98C 1 0.430107527 ENSG00000143167 chr1:167069044-167069044;G/C missense_variant False GPAA1@p.A533S 1 0.076923077 ENSG00000197858 chr8:144085718-144085718;G/T missense_variant False GPAA1@p.E93Q 1 0.203389831 ENSG00000197858 chr8:144083411-144083411;G/C missense_variant False GPAA1@p.S109F 1 0.08 ENSG00000197858 chr8:144083460-144083460;C/T missense_variant False GPALPP1@p.D306N 1 0.146464646 ENSG00000133114 chr13:45027896-45027896;G/A missense_variant False GPALPP1@p.E144Q 1 0.168831169 ENSG00000133114 chr13:45014973-45014973;G/C missense_variant False GPALPP1@p.F91L 1 0.045977011 ENSG00000133114 chr13:45006251-45006251;T/C missense_variant False GPALPP1@p.P107A 1 0.238095238 ENSG00000133114 chr13:45006299-45006299;C/G missense_variant False GPAM@p.A327S 1 0.256756757 ENSG00000119927 chr10:112168440-112168440;C/A missense_variant False GPAM@p.F556S 1 0.192307692 ENSG00000119927 chr10:112160696-112160696;A/G missense_variant False GPAM@p.T10I 1 0.176470588 ENSG00000119927 chr10:112181756-112181756;G/A missense_variant False GPANK1@p.A184V 1 0.323076923 ENSG00000204438 chr6:31663928-31663928;G/A missense_variant False GOT1@p.N68T 1 0.195402299 ENSG00000120053 chr10:99420721-99420721;T/G missense_variant False GORASP2@p.I71M 1 0.246031746 ENSG00000115806 chr2:170949607-170949607;C/G missense_variant False GOLM2@p.S117L 1 0.16091954 ENSG00000166734 chr15:44322987-44322987;C/T missense_variant False GON4L@p.D765Y 1 0.142857143 ENSG00000116580 chr1:155775059-155775059;C/A missense_variant False GON4L@p.L409F 1 0.186567164 ENSG00000116580 chr1:155814384-155814384;C/G missense_variant False GON4L@p.K1864N 1 0.227272727 ENSG00000116580 chr1:155754414-155754414;C/G missense_variant False GON4L@p.I900F 1 0.246031746 ENSG00000116580 chr1:155767490-155767490;T/A missense_variant False GON4L@p.G2069R 1 0.098039216 ENSG00000116580 chr1:155752228-155752228;C/T missense_variant False GON4L@p.E808K 1 0.231404959 ENSG00000116580 chr1:155773139-155773139;C/T missense_variant False GON4L@p.E1472K 1 0.351851852 ENSG00000116580 chr1:155765059-155765059;C/T missense_variant False GON4L@p.D529H 1 0.092261905 ENSG00000116580 chr1:155805009-155805009;C/G missense_variant False GORASP1@p.G215D 1 0.416666667 ENSG00000114745 chr3:39100426-39100426;C/T missense_variant False GON4L@p.D517H 1 0.119565217 ENSG00000116580 chr1:155805045-155805045;C/G missense_variant False GON4L@p.A985T 1 0.28358209 ENSG00000116580 chr1:155766520-155766520;C/T missense_variant False GOLPH3L@p.S232C 1 0.23853211 ENSG00000143457 chr1:150648484-150648484;G/C missense_variant False GOLPH3L@p.H188N 1 0.183673469 ENSG00000143457 chr1:150648617-150648617;G/T missense_variant False GOLPH3L@p.E12Q 1 0.051094891 ENSG00000143457 chr1:150694805-150694805;C/G missense_variant False GOLPH3@p.H244D 1 0.407407407 ENSG00000113384 chr5:32126379-32126379;G/C missense_variant False GON4L@p.L630V 1 0.068181818 ENSG00000116580 chr1:155783990-155783990;G/C missense_variant False GON4L@p.Q208E 1 0.233766234 ENSG00000116580 chr1:155826912-155826912;G/C missense_variant False GON4L@p.R621H 1 0.370786517 ENSG00000116580 chr1:155784016-155784016;C/T missense_variant False GON4L@p.S1011C 1 0.176470588 ENSG00000116580 chr1:155766441-155766441;G/C missense_variant False GON4L@p.S1068P 1 0.757575758 ENSG00000116580 chr1:155766271-155766271;A/G missense_variant False GON4L@p.S1483F 1 0.290909091 ENSG00000116580 chr1:155765025-155765025;G/A missense_variant False GON4L@p.S1771C 1 0.192307692 ENSG00000116580 chr1:155757265-155757265;G/C missense_variant False GON4L@p.S184L 1 0.150537634 ENSG00000116580 chr1:155826983-155826983;G/A missense_variant False GON4L@p.S63F 1 0.265765766 ENSG00000116580 chr1:155853593-155853593;G/A missense_variant False GON4L@p.T1663I 1 0.228070175 ENSG00000116580 chr1:155760565-155760565;G/A missense_variant False GON4L@p.T326K 1 0.185714286 ENSG00000116580 chr1:155820643-155820643;G/T missense_variant False GOPC@p.D385N 1 0.804347826 ENSG00000047932 chr6:117566959-117566959;C/T missense_variant False GOPC@p.L182F 1 0.191176471 ENSG00000047932 chr6:117575281-117575281;C/G missense_variant False GORAB@p.D211N 1 0.097744361 ENSG00000120370 chr1:170544814-170544814;G/A missense_variant False GORAB@p.E113K 1 0.096153846 ENSG00000120370 chr1:170539485-170539485;G/A missense_variant False GORAB@p.L166V 1 0.193277311 ENSG00000120370 chr1:170542567-170542567;C/G missense_variant False GORASP1@p.E412K 1 0.224299065 ENSG00000114745 chr3:39098325-39098325;C/T missense_variant False GOLGA3@p.N1359H 1 0.235294118 ENSG00000090615 chr12:132775209-132775209;T/G missense_variant False GOLGA3@p.I777M 1 0.245614035 ENSG00000090615 chr12:132795990-132795990;G/C missense_variant False GOLGA3@p.E595V 1 0.233870968 ENSG00000090615 chr12:132801783-132801783;T/A missense_variant False GNB3@p.S201L 1 0.176470588 ENSG00000111664 chr12:6843881-6843881;C/T missense_variant False GNB5@p.D378N 1 0.220930233 ENSG00000069966 chr15:52124517-52124517;C/T missense_variant False GNB4@p.R214G 1 0.211678832 ENSG00000114450 chr3:179413471-179413471;G/C missense_variant False GNB4@p.M37V 1 0.324324324 ENSG00000114450 chr3:179419493-179419493;T/C missense_variant False GNB4@p.D246H 1 0.273809524 ENSG00000114450 chr3:179405370-179405370;C/G missense_variant False GNB3@p.S74L 1 0.123778502 ENSG00000111664 chr12:6843191-6843191;C/T missense_variant False GNB3@p.S275C 1 0.378947368 ENSG00000111664 chr12:6845710-6845710;C/G missense_variant False GNB3@p.L146V 1 0.409090909 ENSG00000111664 chr12:6843637-6843637;C/G missense_variant False GNB1@p.D258N 1 0.128205128 ENSG00000078369 chr1:1789197-1789197;C/T missense_variant False GNB3@p.E260K 1 0.259259259 ENSG00000111664 chr12:6845664-6845664;G/A missense_variant False GNB1L@p.S46N 1 0.5 ENSG00000185838 chr22:19820715-19820715;C/T missense_variant False GNB1L@p.R58K 1 0.395833333 ENSG00000185838 chr22:19820679-19820679;C/T missense_variant False GNB1L@p.G31A 1 0.184466019 ENSG00000185838 chr22:19821264-19821264;C/G missense_variant False GNB1L@p.A327S 1 0.277777778 ENSG00000185838 chr22:19788714-19788714;C/A missense_variant False GNB1@p.S74L 1 0.230769231 ENSG00000078369 chr1:1806521-1806521;G/A missense_variant False GNB5@p.E367K 1 0.234567901 ENSG00000069966 chr15:52124550-52124550;C/T missense_variant False GNE@p.E33K 1 0.10982659 ENSG00000159921 chr9:36249352-36249352;C/T missense_variant False GNE@p.K262Q 1 0.492063492 ENSG00000159921 chr9:36236910-36236910;T/G missense_variant False GNE@p.K34N 1 0.266666667 ENSG00000159921 chr9:36249347-36249347;C/G missense_variant False GNE@p.M138I 1 0.139705882 ENSG00000159921 chr9:36246326-36246326;C/G missense_variant False GNE@p.P16S 1 0.524691358 ENSG00000159921 chr9:36276899-36276899;G/A missense_variant False GNE@p.S273L 1 0.416666667 ENSG00000159921 chr9:36236876-36236876;G/A missense_variant False GNE@p.V129D 1 0.115384615 ENSG00000159921 chr9:36246354-36246354;A/T missense_variant False GNG12@p.S7I 1 0.418478261 ENSG00000172380 chr1:67707667-67707667;C/A missense_variant False GNG2@p.E58Q 1 0.397959184 ENSG00000186469 chr14:51966643-51966643;G/C missense_variant False GNG3@p.A27G 1 0.455882353 ENSG00000162188 chr11:62708375-62708375;C/G missense_variant False GNG3@p.A73T 1 0.598591549 ENSG00000162188 chr11:62708795-62708795;G/A missense_variant False GNG4@p.E21K 1 0.561904762 ENSG00000168243 chr1:235583778-235583778;C/T missense_variant False GNG4@p.E46K 1 0.553672316 ENSG00000168243 chr1:235552201-235552201;C/T missense_variant False GNG4@p.S6P 1 0.321285141 ENSG00000168243 chr1:235583823-235583823;A/G missense_variant False GNG5@p.F67L 1 0.403225806 ENSG00000174021 chr1:84501851-84501851;A/C missense_variant False GNGT2@p.E38K 1 0.302325581 ENSG00000167083 chr17:49206855-49206855;C/T missense_variant False GNB1@p.E260K 1 0.552631579 ENSG00000078369 chr1:1789191-1789191;C/T missense_variant False GNB1@p.D205N 1 0.337662338 ENSG00000078369 chr1:1790481-1790481;C/T missense_variant False GNL1@p.E138Q 1 0.434782609 ENSG00000204590 chr6:30554880-30554880;C/G missense_variant False GNAL@p.E151D 1 0.355769231 ENSG00000141404 chr18:11824977-11824977;G/C missense_variant False GNAQ@p.V223I 1 0.115384615 ENSG00000156052 chr9:77794531-77794531;C/T missense_variant True GNAQ@p.R256T 1 0.105960265 ENSG00000156052 chr9:77728636-77728636;C/G missense_variant True GNAQ@p.E221K 1 0.402777778 ENSG00000156052 chr9:77794537-77794537;C/T missense_variant True GNAO1@p.N142S 1 0.254545455 ENSG00000087258 chr16:56328752-56328752;A/G missense_variant False GNAO1@p.I185M 1 0.36 ENSG00000087258 chr16:56334819-56334819;C/G missense_variant False GNAL@p.V234I 1 0.328467153 ENSG00000141404 chr18:11868563-11868563;G/A missense_variant False GNAL@p.D318N 1 0.076470588 ENSG00000141404 chr18:11876641-11876641;G/A missense_variant False GNAZ@p.R143H 1 0.054945055 ENSG00000128266 chr22:23096123-23096123;G/A missense_variant False GNAI3@p.R242Q 1 0.352941176 ENSG00000065135 chr1:109586733-109586733;G/A missense_variant False GNAI3@p.P121A 1 0.363636364 ENSG00000065135 chr1:109579261-109579261;C/G missense_variant False GNAI3@p.K349Q 1 0.214285714 ENSG00000065135 chr1:109592213-109592213;A/C missense_variant False GNAI3@p.K279N 1 0.274509804 ENSG00000065135 chr1:109586845-109586845;G/C missense_variant False GNAI3@p.E289Q 1 0.25 ENSG00000065135 chr1:109586873-109586873;G/C missense_variant False GNAI3@p.E238K 1 0.259036145 ENSG00000065135 chr1:109586337-109586337;G/A missense_variant False GNAS@p.A331V 1 0.126984127 ENSG00000087460 chr20:58854257-58854257;C/T missense_variant True GNAS@p.D464E 1 0.7 ENSG00000087460 chr20:58854657-58854657;T/A missense_variant True GNAS@p.E155Q 1 0.120481928 ENSG00000087460 chr20:58905413-58905413;G/C missense_variant True GNAS@p.E15K 1 0.208333333 ENSG00000087460 chr20:58891769-58891769;G/A missense_variant True GNAS@p.K181N 1 0.116438356 ENSG00000087460 chr20:58909174-58909174;G/C missense_variant True GNAS@p.M60I 1 0.949152542 ENSG00000087460 chr20:58895652-58895652;G/A missense_variant True GNAS@p.S51F 1 0.363636364 ENSG00000087460 chr20:58895624-58895624;C/T missense_variant True GNAT1@p.E14K 1 0.289473684 ENSG00000114349 chr3:50191765-50191765;G/A missense_variant False GNAT1@p.K205N 1 0.470588235 ENSG00000114349 chr3:50194128-50194128;G/C missense_variant False GNAT1@p.L190F 1 0.285714286 ENSG00000114349 chr3:50193871-50193871;C/T missense_variant False GNAT2@p.I319M 1 0.361111111 ENSG00000134183 chr1:109603462-109603462;G/C missense_variant False GNAT2@p.L194F 1 0.159292035 ENSG00000134183 chr1:109606316-109606316;C/G missense_variant False GNAT2@p.V126I 1 0.140350877 ENSG00000134183 chr1:109608716-109608716;C/T missense_variant False GNAT3@p.D150N 1 0.142857143 ENSG00000214415 chr7:80478854-80478854;C/T missense_variant False GNAT3@p.S260P 1 0.473684211 ENSG00000214415 chr7:80462255-80462255;A/G missense_variant False GNAZ@p.E115K 1 0.211111111 ENSG00000128266 chr22:23096038-23096038;G/A missense_variant False GNAZ@p.L228F 1 0.433408578 ENSG00000128266 chr22:23096377-23096377;C/T missense_variant False GNL1@p.D49N 1 0.526315789 ENSG00000204590 chr6:30555649-30555649;C/T missense_variant False GNL1@p.I159F 1 0.323076923 ENSG00000204590 chr6:30554817-30554817;T/A missense_variant False GOLGA3@p.E509K 1 0.287128713 ENSG00000090615 chr12:132804788-132804788;C/T missense_variant False GOLGA1@p.D140H 1 0.311881188 ENSG00000136935 chr9:124926723-124926723;C/G missense_variant False GOLGA1@p.R73T 1 0.318181818 ENSG00000136935 chr9:124931324-124931324;C/G missense_variant False GOLGA1@p.R53T 1 0.175 ENSG00000136935 chr9:124931384-124931384;C/G missense_variant False GOLGA1@p.Q234H 1 0.072847682 ENSG00000136935 chr9:124921752-124921752;C/G missense_variant False GOLGA1@p.E665K 1 0.26 ENSG00000136935 chr9:124881927-124881927;C/T missense_variant False GOLGA1@p.E662Q 1 0.122807018 ENSG00000136935 chr9:124881936-124881936;C/G missense_variant False GOLGA1@p.D48H 1 0.31147541 ENSG00000136935 chr9:124931400-124931400;C/G missense_variant False GOLGA1@p.C708S 1 0.253968254 ENSG00000136935 chr9:124881797-124881797;C/G missense_variant False GNPTAB@p.R1031Q 1 0.25 ENSG00000111670 chr12:101761170-101761170;C/T missense_variant False GNS@p.R539C 1 0.238095238 ENSG00000135677 chr12:64716785-64716785;G/A missense_variant False GNS@p.R355Q 1 0.30952381 ENSG00000135677 chr12:64737038-64737038;C/T missense_variant False GNS@p.Q363E 1 0.325581395 ENSG00000135677 chr12:64737015-64737015;G/C missense_variant False GNRHR@p.H243Y 1 0.321428571 ENSG00000109163 chr4:67744583-67744583;G/A missense_variant False GNRHR@p.F308L 1 0.527131783 ENSG00000109163 chr4:67740543-67740543;G/C missense_variant False GNRH1@p.D37N 1 0.073684211 ENSG00000147437 chr8:25423222-25423222;C/T missense_variant False GOLGA1@p.R763Q 1 0.117370892 ENSG00000136935 chr9:124880546-124880546;C/T missense_variant False GOLGA2@p.A317P 1 0.1 ENSG00000167110 chr9:128262631-128262631;C/G missense_variant False GOLGA2@p.D282N 1 0.362637363 ENSG00000167110 chr9:128263065-128263065;C/T missense_variant False GOLGA2@p.D70N 1 0.272727273 ENSG00000167110 chr9:128268488-128268488;C/T missense_variant False GOLGA2@p.D779Y 1 0.4 ENSG00000167110 chr9:128258036-128258036;C/A missense_variant False GOLGA2@p.E45K 1 0.285714286 ENSG00000167110 chr9:128273888-128273888;C/T missense_variant False GOLGA2@p.E490Q 1 0.210144928 ENSG00000167110 chr9:128260638-128260638;C/G missense_variant False GOLGA2@p.E507K 1 0.057324841 ENSG00000167110 chr9:128260587-128260587;C/T missense_variant False GOLGA2@p.E875K 1 0.3 ENSG00000167110 chr9:128257504-128257504;C/T missense_variant False GOLGA2@p.F544_V545del 1 0.138888889 ENSG00000167110 chr9:128260471-128260476;TACAAA/- inframe_deletion False GOLGA2@p.N62S 1 0.5 ENSG00000167110 chr9:128268511-128268511;T/C missense_variant False GOLGA2@p.R884C 1 0.271186441 ENSG00000167110 chr9:128257477-128257477;G/A missense_variant False GOLGA2@p.T183M 1 0.346938776 ENSG00000167110 chr9:128266303-128266303;G/A missense_variant False GOLGA3@p.E1117K 1 0.365384615 ENSG00000090615 chr12:132782412-132782412;C/T missense_variant False GOLGA3@p.E1423Q 1 0.125 ENSG00000090615 chr12:132774197-132774197;C/G missense_variant False GOLGA3@p.E145Q 1 0.34375 ENSG00000090615 chr12:132813393-132813393;C/G missense_variant False GOLGA3@p.E492K 1 0.218390805 ENSG00000090615 chr12:132804839-132804839;C/T missense_variant False GNPTG@p.S291F 1 0.342857143 ENSG00000090581 chr16:1363045-1363045;C/T missense_variant False GNPTAB@p.Q845H 1 0.134228188 ENSG00000111670 chr12:101764382-101764382;C/G missense_variant False GNL2@p.E385Q 1 0.2 ENSG00000134697 chr1:37574814-37574814;C/G missense_variant False GNL3L@p.C490Qfs*11 1 0.198019802 ENSG00000130119 chrX:54558455-54558459;ATTGC/- frameshift_variant False GNL3L@p.P309R 1 0.375 ENSG00000130119 chrX:54551630-54551630;C/G missense_variant False GNL3L@p.K396N 1 0.234567901 ENSG00000130119 chrX:54552298-54552298;G/C missense_variant False GNL3L@p.K126R 1 0.609756098 ENSG00000130119 chrX:54543025-54543025;A/G missense_variant False GNL3L@p.I338V 1 0.486486486 ENSG00000130119 chrX:54551716-54551716;A/G missense_variant False GNL3L@p.H496Y 1 0.270440252 ENSG00000130119 chrX:54558475-54558475;C/T missense_variant False GNL3L@p.E457K 1 0.228070175 ENSG00000130119 chrX:54554615-54554615;G/A missense_variant False GNL3@p.V174L 1 0.107843137 ENSG00000163938 chr3:52689185-52689185;G/T missense_variant False GNPTAB@p.E1187K 1 0.296875 ENSG00000111670 chr12:101753415-101753415;C/T missense_variant False GNL3@p.M13I 1 0.089552239 ENSG00000163938 chr3:52686794-52686794;G/C missense_variant False GNL3@p.K223N 1 0.277777778 ENSG00000163938 chr3:52690959-52690959;G/C missense_variant False GNL3@p.H404L 1 0.462121212 ENSG00000163938 chr3:52693431-52693431;A/T missense_variant False GNL3@p.G287E 1 0.153846154 ENSG00000163938 chr3:52691620-52691620;G/A missense_variant False GNL2@p.K712N 1 0.321428571 ENSG00000134697 chr1:37566915-37566915;C/G missense_variant False GNL2@p.E665Q 1 0.387755102 ENSG00000134697 chr1:37567723-37567723;C/G missense_variant False GNL3L@p.R254C 1 0.131578947 ENSG00000130119 chrX:54548358-54548358;C/T missense_variant False GNL3L@p.S38F 1 0.277777778 ENSG00000130119 chrX:54540166-54540166;C/T missense_variant False GNL3L@p.S519L 1 0.4375 ENSG00000130119 chrX:54558545-54558545;C/T missense_variant False GNL3L@p.S543C 1 0.488372093 ENSG00000130119 chrX:54558617-54558617;C/G missense_variant False GNMT@p.I195M 1 0.407407407 ENSG00000124713 chr6:42963205-42963205;C/G missense_variant False GNPAT@p.F130C 1 0.489795918 ENSG00000116906 chr1:231260634-231260634;T/G missense_variant False GNPAT@p.G62V 1 0.079646018 ENSG00000116906 chr1:231251067-231251067;G/T missense_variant False GNPAT@p.M342I 1 0.083333333 ENSG00000116906 chr1:231266378-231266378;G/A missense_variant False GNPAT@p.S4Y 1 0.058823529 ENSG00000116906 chr1:231241389-231241389;C/A missense_variant False GNPDA1@p.E217K 1 0.48 ENSG00000113552 chr5:142003208-142003208;C/T missense_variant False GNPDA1@p.E278D 1 0.333333333 ENSG00000113552 chr5:142002065-142002065;C/A missense_variant False GNPDA2@p.N8I 1 0.243902439 ENSG00000163281 chr4:44722185-44722185;T/A missense_variant False GNPDA2@p.Q230K 1 0.12371134 ENSG00000163281 chr4:44707833-44707833;G/T missense_variant False GNPNAT1@p.E37K 1 0.175438596 ENSG00000100522 chr14:52784542-52784542;C/T missense_variant False GNPNAT1@p.L13V 1 0.428571429 ENSG00000100522 chr14:52784614-52784614;G/C missense_variant False GNPTAB@p.D1018N 1 0.210526316 ENSG00000111670 chr12:101761210-101761210;C/T missense_variant False GNPTAB@p.D516N 1 0.298342541 ENSG00000111670 chr12:101766157-101766157;C/T missense_variant False GPANK1@p.R325W 1 0.136363636 ENSG00000204438 chr6:31662364-31662364;G/A missense_variant False GPAT2@p.K699Q 1 0.159090909 ENSG00000186281 chr2:96023160-96023160;T/G missense_variant False GDI2@p.N36K 1 0.092105263 ENSG00000057608 chr10:5800643-5800643;G/C missense_variant False GPR151@p.S156L 1 0.195121951 ENSG00000173250 chr5:146515647-146515647;G/A missense_variant False GPR153@p.D3N 1 0.456140351 ENSG00000158292 chr1:6254899-6254899;C/T missense_variant False GPR153@p.D151N 1 0.333333333 ENSG00000158292 chr1:6254053-6254053;C/T missense_variant False GPR152@p.P170S 1 0.075949367 ENSG00000175514 chr11:67452217-67452217;G/A missense_variant False GPR152@p.D8N 1 0.626086957 ENSG00000175514 chr11:67452703-67452703;C/T missense_variant False GPR151@p.V386E 1 0.32 ENSG00000173250 chr5:146514957-146514957;A/T missense_variant False GPR151@p.S291C 1 0.292307692 ENSG00000173250 chr5:146515242-146515242;G/C missense_variant False GPR151@p.L106I 1 0.179487179 ENSG00000173250 chr5:146515798-146515798;G/T missense_variant False GPR155@p.F440V 1 0.346153846 ENSG00000163328 chr2:174465851-174465851;A/C missense_variant False GPR151@p.E311K 1 0.4375 ENSG00000173250 chr5:146515183-146515183;C/T missense_variant False GPR151@p.E266K 1 0.262295082 ENSG00000173250 chr5:146515318-146515318;C/T missense_variant False GPR150@p.S37C 1 0.583333333 ENSG00000178015 chr5:95620385-95620385;C/G missense_variant False GPR149@p.S576R 1 0.267326733 ENSG00000174948 chr3:154338167-154338167;G/T missense_variant False GPR149@p.S508Y 1 0.533898305 ENSG00000174948 chr3:154421139-154421139;G/T missense_variant False GPR149@p.R394I 1 0.333333333 ENSG00000174948 chr3:154421481-154421481;C/A missense_variant False GPR153@p.S239F 1 0.325581395 ENSG00000158292 chr1:6253788-6253788;G/A missense_variant False GPR155@p.G328A 1 0.461538462 ENSG00000163328 chr2:174470433-174470433;C/G missense_variant False GPAT2@p.Q782E 1 0.328125 ENSG00000186281 chr2:96022203-96022203;G/C missense_variant False GPR158@p.E726K 1 0.628571429 ENSG00000151025 chr10:25597802-25597802;G/A missense_variant False GPR158@p.R196L 1 0.11627907 ENSG00000151025 chr10:25176007-25176007;G/T missense_variant False GPR158@p.M733I 1 0.276595745 ENSG00000151025 chr10:25597825-25597825;G/T missense_variant False GPR158@p.L653F 1 0.119266055 ENSG00000151025 chr10:25594358-25594358;G/C missense_variant False GPR158@p.I171M 1 0.333333333 ENSG00000151025 chr10:25175933-25175933;C/G missense_variant False GPR158@p.E866K 1 0.133333333 ENSG00000151025 chr10:25598222-25598222;G/A missense_variant False GPR158@p.E842K 1 0.05078125 ENSG00000151025 chr10:25598150-25598150;G/A missense_variant False GPR158@p.A909T 1 0.544 ENSG00000151025 chr10:25598351-25598351;G/A missense_variant False GPR155@p.L245I 1 0.445945946 ENSG00000163328 chr2:174473092-174473092;G/T missense_variant False GPR156@p.T182M 1 0.124031008 ENSG00000175697 chr3:120186713-120186713;G/A missense_variant False GPR156@p.S480Y 1 0.148148148 ENSG00000175697 chr3:120168038-120168038;G/T missense_variant False GPR156@p.P15A 1 0.485714286 ENSG00000175697 chr3:120244056-120244056;G/C missense_variant False GPR156@p.G136D 1 0.626666667 ENSG00000175697 chr3:120193006-120193006;C/T missense_variant False GPR156@p.D176N 1 0.317307692 ENSG00000175697 chr3:120186732-120186732;C/T missense_variant False GPR155@p.S176Y 1 0.540229885 ENSG00000163328 chr2:174473298-174473298;G/T missense_variant False GPR149@p.R289G 1 0.359550562 ENSG00000174948 chr3:154428751-154428751;T/C missense_variant False GPR149@p.N21S 1 0.077922078 ENSG00000174948 chr3:154429554-154429554;T/C missense_variant False GPR149@p.F346L 1 0.275862069 ENSG00000174948 chr3:154427652-154427652;G/C missense_variant False GPR137@p.V126M 1 0.095238095 ENSG00000173264 chr11:64286983-64286983;G/A missense_variant False GPR141@p.E267Q 1 0.180851064 ENSG00000187037 chr7:37741192-37741192;G/C missense_variant False GPR141@p.E163K 1 0.123595506 ENSG00000187037 chr7:37740880-37740880;G/A missense_variant False GPR137C@p.N418Ifs*7 1 0.203125 ENSG00000180998 chr14:52635077-52635080;AACA/- frameshift_variant False GPR137C@p.E76K 1 0.1875 ENSG00000180998 chr14:52553373-52553373;G/A missense_variant False GPR137B@p.S217F 1 0.287671233 ENSG00000077585 chr1:236178599-236178599;C/T missense_variant False GPR137B@p.I165M 1 0.094339623 ENSG00000077585 chr1:236178444-236178444;C/G missense_variant False GPR137@p.E131Q 1 0.303030303 ENSG00000173264 chr11:64286998-64286998;G/C missense_variant False GPR149@p.E725Q 1 0.076923077 ENSG00000174948 chr3:154337722-154337722;C/G missense_variant False GPR135@p.V370M 1 0.425 ENSG00000181619 chr14:59464119-59464119;C/T missense_variant False GPR135@p.A480T 1 0.266666667 ENSG00000181619 chr14:59463789-59463789;C/T missense_variant False GPR132@p.V47A 1 0.355555556 ENSG00000183484 chr14:105051997-105051997;A/G missense_variant False GPR132@p.R154H 1 0.333333333 ENSG00000183484 chr14:105051676-105051676;C/T missense_variant False GPR132@p.K373N 1 0.484848485 ENSG00000183484 chr14:105051018-105051018;C/G missense_variant False GPR132@p.F359L 1 0.3 ENSG00000183484 chr14:105051060-105051060;G/C missense_variant False GPR141@p.I116M 1 0.132743363 ENSG00000187037 chr7:37740741-37740741;C/G missense_variant False GPR141@p.I97M 1 0.142857143 ENSG00000187037 chr7:37740684-37740684;C/G missense_variant False GPR141@p.L95R 1 0.188405797 ENSG00000187037 chr7:37740677-37740677;T/G missense_variant False GPR141@p.S11F 1 0.203463203 ENSG00000187037 chr7:37740425-37740425;C/T missense_variant False GPR141@p.S276R 1 0.057471264 ENSG00000187037 chr7:37741221-37741221;C/G missense_variant False GPR141@p.W140L 1 0.097744361 ENSG00000187037 chr7:37740812-37740812;G/T missense_variant False GPR141@p.Y177N 1 0.182926829 ENSG00000187037 chr7:37740922-37740922;T/A missense_variant False GPR142@p.A24V 1 0.192982456 ENSG00000257008 chr17:74367576-74367576;C/T missense_variant False GPR142@p.E146Q 1 0.333333333 ENSG00000257008 chr17:74370598-74370598;G/C missense_variant False GPR142@p.L68I 1 0.125 ENSG00000257008 chr17:74367707-74367707;C/A missense_variant False GPR142@p.Q43L 1 0.333333333 ENSG00000257008 chr17:74367633-74367633;A/T missense_variant False GPR142@p.R80H 1 0.454545455 ENSG00000257008 chr17:74367744-74367744;G/A missense_variant False GPR142@p.S270L 1 0.442307692 ENSG00000257008 chr17:74372020-74372020;C/T missense_variant False GPR143@p.Q358E 1 0.088235294 ENSG00000101850 chrX:9739533-9739533;G/C missense_variant False GPR146@p.E177K 1 0.241935484 ENSG00000164849 chr7:1058044-1058044;G/A missense_variant False GPR148@p.M309I 1 0.36 ENSG00000173302 chr2:130730078-130730078;G/A missense_variant False GPR148@p.Y273H 1 0.484662577 ENSG00000173302 chr2:130729968-130729968;T/C missense_variant False GPR158@p.R691L 1 0.366666667 ENSG00000151025 chr10:25596716-25596716;G/T missense_variant False GPR158@p.R789K 1 0.127272727 ENSG00000151025 chr10:25597992-25597992;G/A missense_variant False GPR158@p.S287Y 1 0.569230769 ENSG00000151025 chr10:25176280-25176280;C/A missense_variant False GPR179@p.R709Q 1 0.1 ENSG00000277399 chr17:38331446-38331446;C/T missense_variant False GPR17@p.A176E 1 0.397660819 ENSG00000144230 chr2:127651178-127651178;C/A missense_variant False GPR179@p.W1031C 1 0.25 ENSG00000277399 chr17:38330479-38330479;C/A missense_variant False GPR179@p.S1971Y 1 0.366666667 ENSG00000277399 chr17:38327660-38327660;G/T missense_variant False GPR179@p.S1767T 1 0.071428571 ENSG00000277399 chr17:38328272-38328272;C/G missense_variant False GPR179@p.S1163C 1 0.444444444 ENSG00000277399 chr17:38330085-38330085;T/A missense_variant False GPR179@p.S1035C 1 0.24 ENSG00000277399 chr17:38330468-38330468;G/C missense_variant False GPR179@p.R407C 1 0.421052632 ENSG00000277399 chr17:38336989-38336989;G/A missense_variant False GPR179@p.E1743D 1 0.333333333 ENSG00000277399 chr17:38328343-38328343;C/G missense_variant False GPR179@p.R1603T 1 0.224 ENSG00000277399 chr17:38328764-38328764;C/G missense_variant False GPR179@p.L1095V 1 0.194029851 ENSG00000277399 chr17:38330289-38330289;G/C missense_variant False GPR179@p.G827R 1 0.363636364 ENSG00000277399 chr17:38331093-38331093;C/G missense_variant False GPR179@p.G1796D 1 0.293233083 ENSG00000277399 chr17:38328185-38328185;C/T missense_variant False GPR179@p.E649K 1 0.19047619 ENSG00000277399 chr17:38333346-38333346;C/T missense_variant False GPR179@p.E54K 1 0.317647059 ENSG00000277399 chr17:38343630-38343630;C/T missense_variant False GPR17@p.E49Q 1 0.185393258 ENSG00000144230 chr2:127650796-127650796;G/C missense_variant False GPR17@p.I85Hfs*246 1 0.21641791 ENSG00000144230 chr2:127650898-127650899;-/T frameshift_variant False GPR180@p.M240I 1 0.322580645 ENSG00000152749 chr13:94619501-94619501;G/A missense_variant False GPR180@p.S30N 1 0.571428571 ENSG00000152749 chr13:94602016-94602016;G/A missense_variant False GPR183@p.E340K 1 0.2 ENSG00000169508 chr13:99295128-99295128;C/T missense_variant False GPR18@p.D166N 1 0.408163265 ENSG00000125245 chr13:99255377-99255377;C/T missense_variant False GPR18@p.E228K 1 0.050505051 ENSG00000125245 chr13:99255191-99255191;C/T missense_variant False GPR18@p.G36A 1 0.328571429 ENSG00000125245 chr13:99255766-99255766;C/G missense_variant False GPR18@p.L69F 1 0.296703297 ENSG00000125245 chr13:99255666-99255666;C/G missense_variant False GPR19@p.H293R 1 0.242424242 ENSG00000183150 chr12:12661571-12661571;T/C missense_variant False GPR1@p.E10K 1 0.421052632 None chr2:206177220-206177220;C/T missense_variant False GPR1@p.L155V 1 0.531914894 None chr2:206176785-206176785;G/C missense_variant False GPR1@p.L167V 1 0.471428571 None chr2:206176749-206176749;G/C missense_variant False GPR1@p.R149L 1 0.276923077 None chr2:206176802-206176802;C/A missense_variant False GPR20@p.G103R 1 0.083333333 ENSG00000204882 chr8:141357617-141357617;C/G missense_variant False GPR20@p.N16K 1 0.282051282 ENSG00000204882 chr8:141357876-141357876;A/T missense_variant False GPR21@p.A244T 1 0.247058824 ENSG00000188394 chr9:123035296-123035296;G/A missense_variant False GPR179@p.E2044Q 1 0.14893617 ENSG00000277399 chr17:38327442-38327442;C/G missense_variant False GPR179@p.E1478Q 1 0.28125 ENSG00000277399 chr17:38329140-38329140;C/G missense_variant False GPR158@p.S692C 1 0.245614035 ENSG00000151025 chr10:25596719-25596719;C/G missense_variant False GPR161@p.E527K 1 0.161904762 ENSG00000143147 chr1:168085542-168085542;C/T missense_variant False GPR162@p.P242T 1 0.390243902 ENSG00000250510 chr12:6824622-6824622;C/A missense_variant False GPR162@p.G373E 1 0.46031746 ENSG00000250510 chr12:6826256-6826256;G/A missense_variant False GPR161@p.S245T 1 0.35 ENSG00000143147 chr1:168096874-168096874;A/T missense_variant False GPR161@p.S242C 1 0.457399103 ENSG00000143147 chr1:168096882-168096882;G/C missense_variant False GPR161@p.R184W 1 0.636363636 ENSG00000143147 chr1:168097057-168097057;G/A missense_variant False GPR161@p.G394V 1 0.103448276 ENSG00000143147 chr1:168090587-168090587;C/A missense_variant False GPR160@p.S236Y 1 0.605263158 ENSG00000173890 chr3:170084679-170084679;C/A missense_variant False GPR179@p.E1047K 1 0.919642857 ENSG00000277399 chr17:38330433-38330433;C/T missense_variant False GPR160@p.S171F 1 0.527777778 ENSG00000173890 chr3:170084484-170084484;C/T missense_variant False GPR15@p.S277L 1 0.126436782 ENSG00000154165 chr3:98532863-98532863;C/T missense_variant False GPR15@p.G288R 1 0.105882353 ENSG00000154165 chr3:98532895-98532895;G/A missense_variant False GPR158@p.Y1155H 1 0.534246575 ENSG00000151025 chr10:25599089-25599089;T/C missense_variant False GPR158@p.V824L 1 0.23943662 ENSG00000151025 chr10:25598096-25598096;G/T missense_variant False GPR158@p.V1011F 1 0.144736842 ENSG00000151025 chr10:25598657-25598657;G/T missense_variant False GPR162@p.R424G 1 0.211764706 ENSG00000250510 chr12:6826707-6826707;C/G missense_variant False GPR162@p.R502Q 1 0.556074766 ENSG00000250510 chr12:6826942-6826942;G/A missense_variant False GPR162@p.V119M 1 0.150943396 ENSG00000250510 chr12:6824253-6824253;G/A missense_variant False GPR162@p.W85C 1 0.142857143 ENSG00000250510 chr12:6824153-6824153;G/C missense_variant False GPR171@p.Q41H 1 0.411764706 ENSG00000174946 chr3:151199264-151199264;C/A missense_variant False GPR173@p.R169W 1 0.368421053 ENSG00000184194 chrX:53077126-53077126;C/T missense_variant False GPR173@p.S82C 1 0.368421053 ENSG00000184194 chrX:53076866-53076866;C/G missense_variant False GPR174@p.D214N 1 0.244604317 ENSG00000147138 chrX:79171647-79171647;G/A missense_variant False GPR174@p.F294L 1 0.239669421 ENSG00000147138 chrX:79171889-79171889;T/A missense_variant False GPR174@p.P197A 1 0.507936508 ENSG00000147138 chrX:79171596-79171596;C/G missense_variant False GPR174@p.Y292H 1 0.175925926 ENSG00000147138 chrX:79171881-79171881;T/C missense_variant False GPR176@p.R341Q 1 0.235294118 ENSG00000166073 chr15:39801658-39801658;C/T missense_variant False GPR176@p.S155P 1 0.475 ENSG00000166073 chr15:39802217-39802217;A/G missense_variant False GPR179@p.A1570T 1 0.389534884 ENSG00000277399 chr17:38328864-38328864;C/T missense_variant False GPR179@p.A1589T 1 0.309133489 ENSG00000277399 chr17:38328807-38328807;C/T missense_variant False GPR179@p.D1061N 1 0.333333333 ENSG00000277399 chr17:38330391-38330391;C/T missense_variant False GPR179@p.D1179H 1 0.222543353 ENSG00000277399 chr17:38330037-38330037;C/G missense_variant False GPR12@p.S168Y 1 0.5 ENSG00000132975 chr13:26759325-26759325;G/T missense_variant False GPR12@p.M225I 1 0.486842105 ENSG00000132975 chr13:26759153-26759153;C/A missense_variant False GPR119@p.V269M 1 1.0 ENSG00000147262 chrX:130384643-130384643;C/T missense_variant False GPBP1L1@p.P244T 1 0.323529412 ENSG00000159592 chr1:45640224-45640224;G/T missense_variant False GPC2@p.P526S 1 0.25 ENSG00000213420 chr7:100170394-100170394;G/A missense_variant False GPC2@p.L122V 1 0.4 ENSG00000213420 chr7:100175856-100175856;G/C missense_variant False GPC2@p.D498N 1 0.44 ENSG00000213420 chr7:100170478-100170478;C/T missense_variant False GPC1@p.T512R 1 0.108108108 ENSG00000063660 chr2:240466148-240466148;C/G missense_variant False GPC1@p.Q436H 1 0.074074074 ENSG00000063660 chr2:240465512-240465512;G/C missense_variant False GPBP1L1@p.R60G 1 0.273381295 ENSG00000159592 chr1:45655202-45655202;G/C missense_variant False GPBP1L1@p.E466K 1 0.347003155 ENSG00000159592 chr1:45628285-45628285;C/T missense_variant False GPATCH8@p.R947W 1 0.305263158 ENSG00000186566 chr17:44399238-44399238;G/A missense_variant False GPBP1L1@p.D147N 1 0.19 ENSG00000159592 chr1:45654581-45654581;C/T missense_variant False GPBP1@p.R309T 1 0.260869565 ENSG00000062194 chr5:57249530-57249530;G/C missense_variant False GPBP1@p.Q339P 1 0.409090909 ENSG00000062194 chr5:57250997-57250997;A/C missense_variant False GPBP1@p.G187E 1 0.420289855 ENSG00000062194 chr5:57246381-57246381;G/A missense_variant False GPATCH8@p.S866T 1 0.274647887 ENSG00000186566 chr17:44399481-44399481;A/T missense_variant False GPATCH8@p.S417T 1 0.245033113 ENSG00000186566 chr17:44400827-44400827;C/G missense_variant False GPC3@p.L564R 1 0.968253968 ENSG00000147257 chrX:133536176-133536176;A/C missense_variant False GPC4@p.A8T 1 0.789473684 ENSG00000076716 chrX:133414944-133414944;C/T missense_variant False GPC4@p.E300Q 1 0.156521739 ENSG00000076716 chrX:133306134-133306134;C/G missense_variant False GPC5@p.A286V 1 0.458823529 ENSG00000179399 chr13:91693718-91693718;C/T missense_variant False GPC5@p.E192K 1 0.341040462 ENSG00000179399 chr13:91693435-91693435;G/A missense_variant False GPC5@p.G154V 1 0.326530612 ENSG00000179399 chr13:91693322-91693322;G/T missense_variant False GPC5@p.G489D 1 0.2125 ENSG00000179399 chr13:92144894-92144894;G/A missense_variant False GPC5@p.I236M 1 0.375 ENSG00000179399 chr13:91693569-91693569;C/G missense_variant False GPC5@p.N230I 1 0.777777778 ENSG00000179399 chr13:91693550-91693550;A/T missense_variant False GPC5@p.Q142K 1 0.129032258 ENSG00000179399 chr13:91693285-91693285;C/A missense_variant False GPC5@p.Q78E 1 0.378378378 ENSG00000179399 chr13:91448829-91448829;C/G missense_variant False GPC5@p.R223H 1 0.450980392 ENSG00000179399 chr13:91693529-91693529;G/A missense_variant False GPC5@p.S303W 1 0.255813953 ENSG00000179399 chr13:91693769-91693769;C/G missense_variant False GPC5@p.V446I 1 0.488095238 ENSG00000179399 chr13:91907992-91907992;G/A missense_variant False GPC5@p.V565L 1 0.157894737 ENSG00000179399 chr13:92866413-92866413;G/T missense_variant False GPC6@p.D163N 1 0.316326531 ENSG00000183098 chr13:93830321-93830321;G/A missense_variant False GPC6@p.D24N 1 0.218181818 ENSG00000183098 chr13:93227526-93227526;G/A missense_variant False GPATCH8@p.R961P 1 0.336734694 ENSG00000186566 chr17:44399195-44399195;C/G missense_variant False GPATCH8@p.R415T 1 0.274509804 ENSG00000186566 chr17:44400833-44400833;C/G missense_variant False GPC6@p.E32K 1 0.392857143 ENSG00000183098 chr13:93227550-93227550;G/A missense_variant False GPATCH1@p.E772K 1 0.108108108 ENSG00000076650 chr19:33117942-33117942;G/A missense_variant False GPATCH3@p.D341H 1 0.097560976 ENSG00000198746 chr1:26894266-26894266;C/G missense_variant False GPATCH2L@p.S296C 1 0.282352941 ENSG00000089916 chr14:76172002-76172002;C/G missense_variant False GPATCH2@p.G451A 1 0.271428571 ENSG00000092978 chr1:217449263-217449263;C/G missense_variant False GPATCH1@p.L304V 1 0.121546961 ENSG00000076650 chr19:33097812-33097812;C/G missense_variant False GPATCH1@p.K856N 1 0.238095238 ENSG00000076650 chr19:33125151-33125151;G/T missense_variant False GPATCH1@p.F754L 1 0.440559441 ENSG00000076650 chr19:33117890-33117890;C/G missense_variant False GPATCH1@p.E293Q 1 0.307142857 ENSG00000076650 chr19:33097779-33097779;G/C missense_variant False GPATCH8@p.K712N 1 0.101214575 ENSG00000186566 chr17:44399941-44399941;C/G missense_variant False GPATCH1@p.D549N 1 0.339622642 ENSG00000076650 chr19:33111783-33111783;G/A missense_variant False GPAT4@p.R96C 1 0.408695652 ENSG00000158669 chr8:41609705-41609705;C/T missense_variant False GPAT4@p.K52Q 1 0.466666667 ENSG00000158669 chr8:41599293-41599293;A/C missense_variant False GPAT2@p.V549I 1 0.220930233 ENSG00000186281 chr2:96024451-96024451;C/T missense_variant False GPAT2@p.R567K 1 0.50877193 ENSG00000186281 chr2:96024307-96024307;C/T missense_variant False GPAT2@p.R20Q 1 0.153846154 ENSG00000186281 chr2:96032301-96032301;C/T missense_variant False GPATCH3@p.D353N 1 0.074074074 ENSG00000198746 chr1:26893443-26893443;C/T missense_variant False GPATCH3@p.E347K 1 0.333333333 ENSG00000198746 chr1:26894248-26894248;C/T missense_variant False GPATCH3@p.R471I 1 0.56097561 ENSG00000198746 chr1:26891176-26891176;C/A missense_variant False GPATCH3@p.S522L 1 0.230769231 ENSG00000198746 chr1:26891023-26891023;G/A missense_variant False GPATCH4@p.E239K 1 0.318518519 ENSG00000160818 chr1:156595626-156595626;C/T missense_variant False GPATCH4@p.E304K 1 0.122137405 ENSG00000160818 chr1:156595431-156595431;C/T missense_variant False GPATCH8@p.A1390V 1 0.132075472 ENSG00000186566 chr17:44397908-44397908;G/A missense_variant False GPATCH8@p.D1218N 1 0.5859375 ENSG00000186566 chr17:44398425-44398425;C/T missense_variant False GPATCH8@p.D915G 1 0.364285714 ENSG00000186566 chr17:44399333-44399333;T/C missense_variant False GPATCH8@p.E1171K 1 0.16 ENSG00000186566 chr17:44398566-44398566;C/T missense_variant False GPATCH8@p.E433K 1 0.201058201 ENSG00000186566 chr17:44400780-44400780;C/T missense_variant False GPATCH8@p.E545K 1 0.555555556 ENSG00000186566 chr17:44400444-44400444;C/T missense_variant False GPATCH8@p.E763Q 1 0.090909091 ENSG00000186566 chr17:44399790-44399790;C/G missense_variant False GPATCH8@p.F216L 1 0.192307692 ENSG00000186566 chr17:44401429-44401429;G/C missense_variant False GPATCH8@p.G737E 1 0.275510204 ENSG00000186566 chr17:44399867-44399867;C/T missense_variant False GPATCH8@p.H401P 1 0.254098361 ENSG00000186566 chr17:44400875-44400875;T/G missense_variant False GPATCH8@p.K163R 1 0.43537415 ENSG00000186566 chr17:44424353-44424353;T/C missense_variant False GPC6@p.D521N 1 0.143939394 ENSG00000183098 chr13:94403110-94403110;G/A missense_variant False GPC6@p.E370Q 1 0.383333333 ENSG00000183098 chr13:94306079-94306079;G/C missense_variant False GPR119@p.S330I 1 0.947368421 ENSG00000147262 chrX:130384459-130384459;C/A missense_variant False GPN2@p.E62K 1 0.725490196 ENSG00000142751 chr1:26889913-26889913;C/T missense_variant False GPNMB@p.K334N 1 0.197916667 ENSG00000136235 chr7:23260757-23260757;A/T missense_variant False GPNMB@p.G505A 1 0.507692308 ENSG00000136235 chr7:23273569-23273569;G/C missense_variant False GPNMB@p.F377L 1 0.097560976 ENSG00000136235 chr7:23266591-23266591;T/C missense_variant False GPN3@p.R229L 1 0.169811321 ENSG00000111231 chr12:110453849-110453849;C/A missense_variant False GPN2@p.V40M 1 0.210526316 ENSG00000142751 chr1:26889979-26889979;C/T missense_variant False GPN2@p.G104C 1 0.148648649 ENSG00000142751 chr1:26889787-26889787;C/A missense_variant False GPN1@p.G29E 1 0.120879121 ENSG00000198522 chr2:27629144-27629144;G/A missense_variant False GPLD1@p.E38K 1 0.142857143 ENSG00000112293 chr6:24486116-24486116;C/T missense_variant False GPN1@p.E272K 1 0.306122449 ENSG00000198522 chr2:27641253-27641253;G/A missense_variant False GPM6B@p.S257N 1 0.07 ENSG00000046653 chrX:13774572-13774572;C/T missense_variant False GPM6A@p.R269C 1 0.488095238 ENSG00000150625 chr4:175634937-175634937;G/A missense_variant False GPM6A@p.G24Afs*7 1 0.328571429 ENSG00000150625 chr4:175701734-175701734;C/- frameshift_variant False GPM6A@p.E259K 1 0.2125 ENSG00000150625 chr4:175634967-175634967;C/T missense_variant False GPLD1@p.S211L 1 0.536585366 ENSG00000112293 chr6:24467188-24467188;G/A missense_variant False GPNMB@p.L452P 1 0.448275862 ENSG00000136235 chr7:23270065-23270065;T/C missense_variant False GPNMB@p.L541R 1 0.352941176 ENSG00000136235 chr7:23274127-23274127;T/G missense_variant False GPNMB@p.S461F 1 0.362068966 ENSG00000136235 chr7:23270092-23270092;C/T missense_variant False GPNMB@p.S49F 1 0.157303371 ENSG00000136235 chr7:23253382-23253382;C/T missense_variant False GPR101@p.A286S 1 0.527777778 ENSG00000165370 chrX:137030819-137030819;C/A missense_variant False GPR101@p.D128E 1 0.192307692 ENSG00000165370 chrX:137031291-137031291;A/T missense_variant False GPR101@p.E245Q 1 0.779661017 ENSG00000165370 chrX:137030942-137030942;C/G missense_variant False GPR101@p.K230N 1 0.909774436 ENSG00000165370 chrX:137030985-137030985;C/G missense_variant False GPR101@p.M332I 1 0.126649077 ENSG00000165370 chrX:137030679-137030679;C/A missense_variant False GPR101@p.R146H 1 0.172413793 ENSG00000165370 chrX:137031238-137031238;C/T missense_variant False GPR107@p.L426S 1 0.520833333 ENSG00000148358 chr9:130107510-130107510;T/C missense_variant False GPR107@p.V68L 1 0.153846154 ENSG00000148358 chr9:130075696-130075696;G/C missense_variant False GPR108@p.D165N 1 0.435483871 ENSG00000125734 chr19:6734189-6734189;C/T missense_variant False GPR108@p.Q134H 1 0.466666667 ENSG00000125734 chr19:6734280-6734280;C/G missense_variant False GPR108@p.T522P 1 0.306451613 ENSG00000125734 chr19:6730380-6730380;T/G missense_variant False GPR119@p.E203K 1 0.675675676 ENSG00000147262 chrX:130384841-130384841;C/T missense_variant False GPR119@p.L14R 1 0.325688073 ENSG00000147262 chrX:130385407-130385407;A/C missense_variant False GPLD1@p.H833D 1 0.131147541 ENSG00000112293 chr6:24429058-24429058;G/C missense_variant False GPLD1@p.D397N 1 0.377358491 ENSG00000112293 chr6:24454161-24454161;C/T missense_variant False GPC6@p.Q179H 1 0.066666667 ENSG00000183098 chr13:93830371-93830371;G/T missense_variant False GPD1@p.G267E 1 0.492647059 ENSG00000167588 chr12:50107754-50107754;G/A missense_variant False GPD2@p.D280H 1 0.272727273 ENSG00000115159 chr2:156550613-156550613;G/C missense_variant False GPD1L@p.P186A 1 0.245076586 ENSG00000152642 chr3:32146672-32146672;C/G missense_variant False GPD1L@p.K298Sfs*102 1 0.180327869 ENSG00000152642 chr3:32159605-32159605;A/- frameshift_variant False GPD1L@p.I330M 1 0.625 ENSG00000152642 chr3:32165844-32165844;C/G missense_variant False GPD1L@p.I103M 1 0.225806452 ENSG00000152642 chr3:32138670-32138670;C/G missense_variant False GPD1@p.G46E 1 0.067307692 ENSG00000167588 chr12:50104669-50104669;G/A missense_variant False GPD1@p.A208T 1 0.352564103 ENSG00000167588 chr12:50107576-50107576;G/A missense_variant False GPLD1@p.A179V 1 0.121212121 ENSG00000112293 chr6:24472591-24472591;G/A missense_variant False GPCPD1@p.T273S 1 0.2 ENSG00000125772 chr20:5575867-5575867;T/A missense_variant False GPCPD1@p.S540Y 1 0.296875 ENSG00000125772 chr20:5558733-5558733;G/T missense_variant False GPCPD1@p.R67C 1 0.296610169 ENSG00000125772 chr20:5593359-5593359;G/A missense_variant False GPCPD1@p.L274V 1 0.191616766 ENSG00000125772 chr20:5575864-5575864;G/C missense_variant False GPCPD1@p.C129Y 1 0.363636364 ENSG00000125772 chr20:5580095-5580095;C/T missense_variant False GPC6@p.S136L 1 0.15 ENSG00000183098 chr13:93830241-93830241;C/T missense_variant False GPD2@p.D302N 1 0.321428571 ENSG00000115159 chr2:156550679-156550679;G/A missense_variant False GPD2@p.D423H 1 0.407142857 ENSG00000115159 chr2:156568926-156568926;G/C missense_variant False GPD2@p.M247V 1 0.419354839 ENSG00000115159 chr2:156549685-156549685;A/G missense_variant False GPD2@p.R227W 1 0.116564417 ENSG00000115159 chr2:156549625-156549625;C/T missense_variant False GPD2@p.S68C 1 0.13559322 ENSG00000115159 chr2:156496144-156496144;C/G missense_variant False GPER1@p.S325N 1 0.074074074 ENSG00000164850 chr7:1092702-1092702;G/A missense_variant False GPHA2@p.E20A 1 0.666666667 ENSG00000149735 chr11:64935402-64935402;T/G missense_variant False GPHB5@p.E65K 1 0.111111111 ENSG00000179600 chr14:63317657-63317657;C/T missense_variant False GPHB5@p.G35C 1 0.214285714 ENSG00000179600 chr14:63317747-63317747;C/A missense_variant False GPHN@p.E76K 1 0.244897959 ENSG00000171723 chr14:66824498-66824498;G/A missense_variant False GPHN@p.L193V 1 0.432258065 ENSG00000171723 chr14:66922786-66922786;C/G missense_variant False GPHN@p.S571L 1 0.141414141 ENSG00000171723 chr14:67143424-67143424;C/T missense_variant False GPI@p.D458V 1 0.236842105 ENSG00000105220 chr19:34399310-34399310;A/T missense_variant False GPI@p.R180H 1 0.410526316 ENSG00000105220 chr19:34377787-34377787;G/A missense_variant False GPI@p.S298L 1 0.44198895 ENSG00000105220 chr19:34393755-34393755;C/T missense_variant False GPKOW@p.D267N 1 0.603174603 ENSG00000068394 chrX:49117144-49117144;C/T missense_variant False GPKOW@p.G174S 1 0.608695652 ENSG00000068394 chrX:49119751-49119751;C/T missense_variant False GNAI2@p.V119M 1 0.416666667 ENSG00000114353 chr3:50253075-50253075;G/A missense_variant False GNAI2@p.I345M 1 0.091836735 ENSG00000114353 chr3:50257657-50257657;C/G missense_variant False GNAI2@p.H57D 1 0.387096774 ENSG00000114353 chr3:50252404-50252404;C/G missense_variant False GIMAP1@p.A114T 1 0.210526316 ENSG00000213203 chr7:150720344-150720344;G/A missense_variant False GIMAP2@p.D77N 1 0.162790698 ENSG00000106560 chr7:150692515-150692515;G/A missense_variant False GIMAP2@p.A255Pfs*10 1 0.228915663 ENSG00000106560 chr7:150693044-150693045;-/CACAC frameshift_variant False GIMAP1@p.T68M 1 0.169491525 ENSG00000213203 chr7:150720207-150720207;C/T missense_variant False GIMAP1@p.M138T 1 0.102564103 ENSG00000213203 chr7:150720417-150720417;T/C missense_variant False GIMAP1@p.L287V 1 0.454545455 ENSG00000213203 chr7:150720863-150720863;C/G missense_variant False GIMAP1@p.G111E 1 0.243243243 ENSG00000213203 chr7:150720336-150720336;G/A missense_variant False GIGYF2@p.T5A 1 0.145833333 ENSG00000204120 chr2:232735210-232735210;A/G missense_variant False GIMAP2@p.N183S 1 0.126984127 ENSG00000106560 chr7:150692834-150692834;A/G missense_variant False GIGYF2@p.S678L 1 0.36 ENSG00000204120 chr2:232812417-232812417;C/T missense_variant False GIGYF2@p.S1280L 1 0.318181818 ENSG00000204120 chr2:232856799-232856799;C/T missense_variant False GIGYF2@p.R269Q 1 0.543478261 ENSG00000204120 chr2:232790791-232790791;G/A missense_variant False GIGYF2@p.P527Q 1 0.2 ENSG00000204120 chr2:232796162-232796162;C/A missense_variant False GIGYF2@p.E357D 1 0.217391304 ENSG00000204120 chr2:232791148-232791148;G/C missense_variant False GIGYF1@p.R705G 1 0.097902098 ENSG00000146830 chr7:100683384-100683384;G/C missense_variant False GIMAP2@p.I202T 1 0.3875 ENSG00000106560 chr7:150692891-150692891;T/C missense_variant False GIMAP4@p.E249D 1 0.441860465 ENSG00000133574 chr7:150572817-150572817;G/C missense_variant False GNAI2@p.D122H 1 0.395904437 ENSG00000114353 chr3:50253084-50253084;G/C missense_variant False GIMAP6@p.R42K 1 0.169230769 ENSG00000133561 chr7:150628473-150628473;C/T missense_variant False GIMAP8@p.E112D 1 0.490566038 ENSG00000171115 chr7:150467034-150467034;A/C missense_variant False GIMAP8@p.A398T 1 0.174825175 ENSG00000171115 chr7:150474521-150474521;G/A missense_variant False GIMAP7@p.R52Q 1 0.380952381 ENSG00000179144 chr7:150520129-150520129;G/A missense_variant False GIMAP7@p.K49N 1 0.08045977 ENSG00000179144 chr7:150520121-150520121;A/C missense_variant False GIMAP7@p.E218V 1 0.171052632 ENSG00000179144 chr7:150520627-150520627;A/T missense_variant False GIMAP7@p.D203H 1 0.345454545 ENSG00000179144 chr7:150520581-150520581;G/C missense_variant False GIMAP6@p.Q35H 1 0.214814815 ENSG00000133561 chr7:150628493-150628493;C/G missense_variant False GIMAP4@p.P95L 1 0.125 ENSG00000133574 chr7:150572354-150572354;C/T missense_variant False GIMAP6@p.L61Qfs*7 1 0.120218579 ENSG00000133561 chr7:150628412-150628416;GCCGA/- frameshift_variant False GIMAP6@p.E5Q 1 0.175675676 ENSG00000133561 chr7:150630130-150630130;C/G missense_variant False GIMAP6@p.E280K 1 0.220338983 ENSG00000133561 chr7:150627760-150627760;C/T missense_variant False GIMAP6@p.D291N 1 0.359550562 ENSG00000133561 chr7:150627727-150627727;C/T missense_variant False GIMAP5@p.M143I 1 0.285714286 ENSG00000196329 chr7:150742568-150742568;G/T missense_variant False GIMAP5@p.A268V 1 0.209302326 ENSG00000196329 chr7:150742942-150742942;C/T missense_variant False GIGYF1@p.G834Rfs*35 1 0.12195122 ENSG00000146830 chr7:100682691-100682692;-/C frameshift_variant False GIGYF1@p.G182A 1 0.271428571 ENSG00000146830 chr7:100686798-100686798;C/G missense_variant False GIGYF1@p.E884K 1 0.147058824 ENSG00000146830 chr7:100682433-100682433;C/T missense_variant False GGTLC2@p.P129S 1 0.139130435 ENSG00000100121 chr22:22647165-22647165;C/T missense_variant False GHITM@p.G108E 1 0.58 ENSG00000165678 chr10:84144088-84144088;G/A missense_variant False GHDC@p.G76E 1 0.315789474 ENSG00000167925 chr17:42193355-42193355;C/T missense_variant False GHDC@p.A409Efs*37 1 0.428571429 ENSG00000167925 chr17:42190686-42190686;G/- frameshift_variant False GH2@p.V206M 1 0.12962963 ENSG00000136487 chr17:63880359-63880359;C/T missense_variant False GH2@p.S132W 1 0.166666667 ENSG00000136487 chr17:63880833-63880833;G/C missense_variant False GH2@p.A181T 1 0.168831169 ENSG00000136487 chr17:63880434-63880434;C/T missense_variant False GGTLC2@p.P111L 1 0.270072993 ENSG00000100121 chr22:22647010-22647010;C/T missense_variant False GIGYF1@p.E84K 1 0.275510204 ENSG00000146830 chr7:100687799-100687799;C/T missense_variant False GGTLC2@p.D143N 1 0.409836066 ENSG00000100121 chr22:22647207-22647207;G/A missense_variant False GGTLC1@p.G209V 1 0.179487179 ENSG00000149435 chr20:23985268-23985268;C/A missense_variant False GGTLC1@p.E221K 1 0.526315789 ENSG00000149435 chr20:23985233-23985233;C/T missense_variant False GGTLC1@p.D34N 1 0.25 ENSG00000149435 chr20:23986512-23986512;C/T missense_variant False GGTLC1@p.D33N 1 0.142857143 ENSG00000149435 chr20:23986515-23986515;C/T missense_variant False GGT7@p.E552K 1 0.288659794 ENSG00000131067 chr20:34851302-34851302;C/T missense_variant False GHITM@p.Q118R 1 0.224489796 ENSG00000165678 chr10:84144886-84144886;A/G missense_variant False GHITM@p.Q184H 1 0.428571429 ENSG00000165678 chr10:84148798-84148798;G/C missense_variant False GHR@p.D223H 1 0.196261682 ENSG00000112964 chr5:42711255-42711255;G/C missense_variant False GHR@p.D340N 1 0.466666667 ENSG00000112964 chr5:42718525-42718525;G/A missense_variant False GHR@p.E462K 1 0.290909091 ENSG00000112964 chr5:42718891-42718891;G/A missense_variant False GHR@p.Y226C 1 0.477124183 ENSG00000112964 chr5:42711265-42711265;A/G missense_variant False GHRHR@p.E27Q 1 0.170212766 ENSG00000106128 chr7:30968855-30968855;G/C missense_variant False GHRHR@p.F267L 1 0.433333333 ENSG00000106128 chr7:30974478-30974478;C/G missense_variant False GHRL@p.D81H 1 0.128205128 ENSG00000157017 chr3:10286797-10286797;C/G missense_variant False GHSR@p.D89N 1 0.128571429 ENSG00000121853 chr3:172448149-172448149;C/T missense_variant False GHSR@p.R70L 1 0.147058824 ENSG00000121853 chr3:172448205-172448205;C/A missense_variant False GID4@p.E224K 1 0.216666667 ENSG00000141034 chr17:18058931-18058931;G/A missense_variant False GID8@p.D28H 1 0.082089552 ENSG00000101193 chr20:62941584-62941584;G/C missense_variant False GIGYF1@p.E285Q 1 0.208053691 ENSG00000146830 chr7:100686275-100686275;C/G missense_variant False GIGYF1@p.E301K 1 0.5 ENSG00000146830 chr7:100686227-100686227;C/T missense_variant False GIGYF1@p.E345Q 1 0.265306122 ENSG00000146830 chr7:100685995-100685995;C/G missense_variant False GIGYF1@p.E494D 1 0.338709677 ENSG00000146830 chr7:100684597-100684597;C/A missense_variant False GIMAP8@p.Q4H 1 0.2 ENSG00000171115 chr7:150466710-150466710;G/T missense_variant False GIMAP8@p.R232K 1 0.082568807 ENSG00000171115 chr7:150474024-150474024;G/A missense_variant False GIMAP8@p.S582L 1 0.25 ENSG00000171115 chr7:150477527-150477527;C/T missense_variant False GJA8@p.Q81H 1 0.088235294 ENSG00000121634 chr1:147908198-147908198;G/C missense_variant False GJB2@p.L210V 1 0.219298246 ENSG00000165474 chr13:20188954-20188954;A/C missense_variant False GJA9@p.S499F 1 0.111111111 ENSG00000131233 chr1:38874603-38874603;G/A missense_variant False GJA9@p.S330C 1 0.058139535 ENSG00000131233 chr1:38875110-38875110;G/C missense_variant False GJA9@p.P71A 1 0.074468085 ENSG00000131233 chr1:38875888-38875888;G/C missense_variant False GJA9@p.F447L 1 0.168831169 ENSG00000131233 chr1:38874758-38874758;G/C missense_variant False GJA8@p.V196M 1 0.153846154 ENSG00000121634 chr1:147908541-147908541;G/A missense_variant False GJA8@p.G94R 1 0.508928571 ENSG00000121634 chr1:147908235-147908235;G/A missense_variant False GJA3@p.G166S 1 0.2 ENSG00000121743 chr13:20142793-20142793;C/T missense_variant False GJA8@p.E110K 1 0.308943089 ENSG00000121634 chr1:147908283-147908283;G/A missense_variant False GJA5@p.S254T 1 0.202898551 ENSG00000265107 chr1:147758479-147758479;A/T missense_variant False GJA5@p.K341E 1 0.543859649 ENSG00000265107 chr1:147758218-147758218;T/C missense_variant False GJA5@p.D51N 1 0.375 ENSG00000265107 chr1:147759088-147759088;C/T missense_variant False GJA5@p.A246P 1 0.064814815 ENSG00000265107 chr1:147758503-147758503;C/G missense_variant False GJA4@p.V130A 1 0.222222222 ENSG00000187513 chr1:34794602-34794602;T/C missense_variant False GJB2@p.L25P 1 0.064935065 ENSG00000165474 chr13:20189508-20189508;A/G missense_variant False GJB3@p.E41K 1 0.09375 ENSG00000188910 chr1:34784883-34784883;G/A missense_variant False GJB3@p.T188I 1 0.158730159 ENSG00000188910 chr1:34785325-34785325;C/T missense_variant False GJB5@p.E102K 1 0.058823529 ENSG00000189280 chr1:34757634-34757634;G/A missense_variant False GJB5@p.L83M 1 0.22 ENSG00000189280 chr1:34757577-34757577;C/A missense_variant False GJB5@p.R265P 1 0.485714286 ENSG00000189280 chr1:34758124-34758124;G/C missense_variant False GJB6@p.I193M 1 0.357142857 ENSG00000121742 chr13:20222902-20222902;A/C missense_variant False GJB6@p.S183C 1 0.326086957 ENSG00000121742 chr13:20222933-20222933;G/C missense_variant False GJB7@p.K103E 1 0.120481928 ENSG00000164411 chr6:87284606-87284606;T/C missense_variant False GJC1@p.N379T 1 0.068322981 ENSG00000182963 chr17:44804682-44804682;T/G missense_variant False GJC3@p.E187K 1 0.426229508 ENSG00000176402 chr7:99929062-99929062;C/T missense_variant False GJD2@p.E296K 1 0.14893617 ENSG00000159248 chr15:34752558-34752558;C/T missense_variant False GJD2@p.L91R 1 0.125 ENSG00000159248 chr15:34753172-34753172;A/C missense_variant False GJD2@p.P166L 1 0.318965517 ENSG00000159248 chr15:34752947-34752947;G/A missense_variant False GJD2@p.W4R 1 0.390804598 ENSG00000159248 chr15:34754479-34754479;A/T missense_variant False GJD3@p.E48K 1 0.407407407 ENSG00000183153 chr17:40363674-40363674;C/T missense_variant False GJD4@p.C124Y 1 0.5 ENSG00000177291 chr10:35607884-35607884;G/A missense_variant False GJA4@p.S163I 1 0.344827586 ENSG00000187513 chr1:34794701-34794701;G/T missense_variant False GJA3@p.E199G 1 0.084507042 ENSG00000121743 chr13:20142693-20142693;T/C missense_variant False GIMAP8@p.S9C 1 0.176470588 ENSG00000171115 chr7:150466724-150466724;C/G missense_variant False GINS1@p.E18K 1 0.151162791 ENSG00000101003 chr20:25407872-25407872;G/A missense_variant False GIPC3@p.E141K 1 0.428571429 ENSG00000179855 chr19:3586823-3586823;G/A missense_variant False GIPC3@p.D120N 1 0.170731707 ENSG00000179855 chr19:3586627-3586627;G/A missense_variant False GINS4@p.Q191R 1 0.931818182 ENSG00000147536 chr8:41541896-41541896;A/G missense_variant False GINS4@p.E109Q 1 0.181818182 ENSG00000147536 chr8:41539705-41539705;G/C missense_variant False GINS3@p.S28P 1 0.410958904 ENSG00000181938 chr16:58392683-58392683;T/C missense_variant False GINS3@p.D213H 1 0.25 ENSG00000181938 chr16:58404715-58404715;G/C missense_variant False GINM1@p.Y67C 1 0.274193548 ENSG00000055211 chr6:149572526-149572526;A/G missense_variant False GJA1@p.S297del 1 0.2 ENSG00000152661 chr6:121447732-121447734;TTC/- inframe_deletion False GINM1@p.S205I 1 0.354166667 ENSG00000055211 chr6:149580620-149580620;G/T missense_variant False GINM1@p.N75S 1 0.25 ENSG00000055211 chr6:149572550-149572550;A/G missense_variant False GINM1@p.L208V 1 0.808510638 ENSG00000055211 chr6:149580628-149580628;C/G missense_variant False GINM1@p.K224Q 1 0.05 ENSG00000055211 chr6:149580676-149580676;A/C missense_variant False GIN1@p.G87S 1 0.666666667 ENSG00000145723 chr5:103106790-103106790;C/T missense_variant False GIN1@p.G409W 1 0.285 ENSG00000145723 chr5:103096610-103096610;C/A missense_variant False GIPR@p.M181I 1 0.172413793 ENSG00000010310 chr19:45674736-45674736;G/A missense_variant False GIT1@p.E165K 1 0.550724638 ENSG00000108262 chr17:29582057-29582057;C/T missense_variant False GIT1@p.E184K 1 0.208333333 ENSG00000108262 chr17:29582000-29582000;C/T missense_variant False GIT1@p.E277K 1 0.260416667 ENSG00000108262 chr17:29578353-29578353;C/T missense_variant False GIT1@p.E467Q 1 0.305263158 ENSG00000108262 chr17:29576432-29576432;C/G missense_variant False GIT1@p.G127E 1 0.075 ENSG00000108262 chr17:29582723-29582723;C/T missense_variant False GIT2@p.E310K 1 0.444444444 ENSG00000139436 chr12:109961337-109961337;C/T missense_variant False GIT2@p.E535K 1 0.4 ENSG00000139436 chr12:109947294-109947294;C/T missense_variant False GIT2@p.R540T 1 0.381818182 ENSG00000139436 chr12:109947278-109947278;C/G missense_variant False GIT2@p.R701C 1 0.538461538 ENSG00000139436 chr12:109933157-109933157;G/A missense_variant False GIT2@p.S568Y 1 0.105263158 ENSG00000139436 chr12:109945288-109945288;G/T missense_variant False GJA10@p.K440M 1 0.651162791 ENSG00000135355 chr6:89895787-89895787;A/T missense_variant False GJA10@p.Q366E 1 0.578947368 ENSG00000135355 chr6:89895564-89895564;C/G missense_variant False GJA10@p.R130K 1 0.21875 ENSG00000135355 chr6:89894857-89894857;G/A missense_variant False GJA10@p.T156A 1 0.408163265 ENSG00000135355 chr6:89894934-89894934;A/G missense_variant False GJA1@p.L356R 1 0.090909091 ENSG00000152661 chr6:121447914-121447914;T/G missense_variant False GJA1@p.Q263K 1 0.194690265 ENSG00000152661 chr6:121447634-121447634;C/A missense_variant False GGT7@p.E47K 1 0.290322581 ENSG00000131067 chr20:34872677-34872677;C/T missense_variant False GGT7@p.A404V 1 0.07079646 ENSG00000131067 chr20:34854815-34854815;G/A missense_variant False GGT6@p.S32L 1 0.632183908 ENSG00000167741 chr17:4560427-4560427;G/A missense_variant False GEN1@p.E446Q 1 0.875 ENSG00000178295 chr2:17780049-17780049;G/C missense_variant False GET3@p.E251K 1 0.258064516 ENSG00000198356 chr19:12747428-12747428;G/A missense_variant False GET3@p.A145S 1 0.25 ENSG00000198356 chr19:12745500-12745500;G/T missense_variant False GET1@p.P127H 1 0.222222222 ENSG00000182093 chr21:39393209-39393209;C/A missense_variant False GEN1@p.Q554P 1 0.944444444 ENSG00000178295 chr2:17780873-17780873;A/C missense_variant False GEN1@p.M384I 1 0.527131783 ENSG00000178295 chr2:17774351-17774351;G/A missense_variant False GEN1@p.G200R 1 0.276785714 ENSG00000178295 chr2:17766651-17766651;G/A missense_variant False GEN1@p.E37K 1 0.116504854 ENSG00000178295 chr2:17760052-17760052;G/A missense_variant False GEMIN5@p.E561K 1 0.137931034 ENSG00000082516 chr5:154917172-154917172;C/T missense_variant False GEMIN8@p.R167H 1 0.326086957 ENSG00000046647 chrX:14009142-14009142;C/T missense_variant False GEMIN7@p.R87H 1 0.222222222 ENSG00000142252 chr19:45090374-45090374;G/A missense_variant False GEMIN6@p.E149K 1 0.303030303 ENSG00000152147 chr2:38781833-38781833;G/A missense_variant False GEMIN5@p.S700L 1 0.386363636 ENSG00000082516 chr5:154911795-154911795;G/A missense_variant False GEMIN5@p.R1035T 1 0.197916667 ENSG00000082516 chr5:154899221-154899221;C/G missense_variant False GEMIN5@p.K842N 1 0.203703704 ENSG00000082516 chr5:154904613-154904613;C/A missense_variant False GET3@p.R185Pfs*54 1 0.137931034 ENSG00000198356 chr19:12745702-12745706;GCGGG/- frameshift_variant False GET3@p.S62C 1 0.396551724 ENSG00000198356 chr19:12738534-12738534;C/G missense_variant False GET3@p.V59A 1 0.510638298 ENSG00000198356 chr19:12738525-12738525;T/C missense_variant False GET4@p.D102N 1 0.256198347 ENSG00000239857 chr7:886638-886638;G/A missense_variant False GET4@p.E99K 1 0.188888889 ENSG00000239857 chr7:886629-886629;G/A missense_variant False GET4@p.P318S 1 0.111111111 ENSG00000239857 chr7:895390-895390;C/T missense_variant False GET4@p.V123M 1 0.25 ENSG00000239857 chr7:887420-887420;G/A missense_variant False GFAP@p.C294Y 1 0.25974026 ENSG00000131095 chr17:44911697-44911697;C/T missense_variant False GFAP@p.E373K 1 0.293333333 ENSG00000131095 chr17:44911246-44911246;C/T missense_variant False GFAP@p.S134C 1 0.26 ENSG00000131095 chr17:44915087-44915087;T/A missense_variant False GFAP@p.S438C 1 0.279661017 ENSG00000131095 chr17:44908128-44908128;G/C missense_variant False GFER@p.E100K 1 0.186440678 ENSG00000127554 chr16:1984786-1984786;G/A missense_variant False GFI1@p.F360L 1 0.142857143 ENSG00000162676 chr1:92478598-92478598;G/C missense_variant False GFI1B@p.P247S 1 0.411764706 ENSG00000165702 chr9:132989832-132989832;C/T missense_variant False GFI1B@p.S232L 1 0.117647059 ENSG00000165702 chr9:132989788-132989788;C/T missense_variant False GFM1@p.E208Q 1 0.212121212 ENSG00000168827 chr3:158649090-158649090;G/C missense_variant False GFM1@p.E476Q 1 0.191489362 ENSG00000168827 chr3:158665382-158665382;G/C missense_variant False GEMIN5@p.E728Q 1 0.1875 ENSG00000082516 chr5:154907804-154907804;C/G missense_variant False GEMIN5@p.E1450D 1 0.424242424 ENSG00000082516 chr5:154889330-154889330;C/G missense_variant False GFM1@p.S37L 1 0.260869565 ENSG00000168827 chr3:158645657-158645657;C/T missense_variant False GDPD1@p.L104P 1 0.102941176 ENSG00000153982 chr17:59245539-59245539;T/C missense_variant False GDPD2@p.S152L 1 0.472222222 ENSG00000130055 chrX:70426462-70426462;C/T missense_variant False GDPD2@p.R230Q 1 0.166666667 ENSG00000130055 chrX:70426998-70426998;G/A missense_variant False GDPD2@p.P336T 1 0.081632653 ENSG00000130055 chrX:70429562-70429562;C/A missense_variant False GDPD2@p.G324R 1 0.25 ENSG00000130055 chrX:70429526-70429526;G/C missense_variant False GDPD2@p.E273K 1 0.425 ENSG00000130055 chrX:70427344-70427344;G/A missense_variant False GDPD1@p.Y183F 1 0.222222222 ENSG00000153982 chr17:59257812-59257812;A/T missense_variant False GDPD1@p.E89Q 1 0.351851852 ENSG00000153982 chr17:59245493-59245493;G/C missense_variant False GEMIN4@p.S598L 1 0.773333333 ENSG00000179409 chr17:746250-746250;G/A missense_variant False GDPD1@p.E283Kfs*9 1 0.168224299 ENSG00000153982 chr17:59273675-59273675;G/AA frameshift_variant False GDPD1@p.E184Q 1 0.452173913 ENSG00000153982 chr17:59257814-59257814;G/C missense_variant False GDNF@p.Q111H 1 0.112903226 ENSG00000168621 chr5:37815954-37815954;C/G missense_variant False GDNF@p.P100R 1 0.276595745 ENSG00000168621 chr5:37815988-37815988;G/C missense_variant False GDNF@p.E30K 1 0.318181818 ENSG00000168621 chr5:37834709-37834709;C/T missense_variant False GDI2@p.Y219H 1 0.273809524 ENSG00000057608 chr10:5785206-5785206;A/G missense_variant False GDPD3@p.E150K 1 0.4 ENSG00000102886 chr16:30112341-30112341;C/T missense_variant False GDPD3@p.E223K 1 0.141025641 ENSG00000102886 chr16:30111428-30111428;C/T missense_variant False GDPD3@p.K181N 1 0.114942529 ENSG00000102886 chr16:30112162-30112162;C/A missense_variant False GDPD4@p.F462L 1 0.405405405 ENSG00000178795 chr11:77233030-77233030;A/G missense_variant False GDPD4@p.G25V 1 0.235294118 ENSG00000178795 chr11:77279379-77279379;C/A missense_variant False GDPD4@p.I32V 1 0.493506494 ENSG00000178795 chr11:77279359-77279359;T/C missense_variant False GDPD4@p.L171F 1 0.153846154 ENSG00000178795 chr11:77269037-77269037;G/A missense_variant False GDPD5@p.A97P 1 0.085106383 ENSG00000158555 chr11:75457719-75457719;C/G missense_variant False GDPD5@p.E149K 1 0.206896552 ENSG00000158555 chr11:75449914-75449914;C/T missense_variant False GDPGP1@p.E133Q 1 0.438596491 ENSG00000183208 chr15:90241305-90241305;G/C missense_variant False GEMIN2@p.E196Q 1 0.360655738 ENSG00000092208 chr14:39128301-39128301;G/C missense_variant False GEMIN2@p.E23Q 1 0.64 ENSG00000092208 chr14:39114372-39114372;G/C missense_variant False GEMIN2@p.P209A 1 0.583333333 ENSG00000092208 chr14:39128340-39128340;C/G missense_variant False GEMIN2@p.R27W 1 0.6 ENSG00000092208 chr14:39114384-39114384;C/T missense_variant False GEMIN2@p.S111L 1 0.315789474 ENSG00000092208 chr14:39118075-39118075;C/T missense_variant False GEMIN4@p.A251V 1 0.761904762 ENSG00000179409 chr17:747291-747291;G/A missense_variant False GEMIN4@p.D256N 1 0.176470588 ENSG00000179409 chr17:747277-747277;C/T missense_variant False GFM1@p.K379N 1 0.134328358 ENSG00000168827 chr3:158658975-158658975;G/C missense_variant False GFM2@p.D584Rfs*16 1 0.279279279 ENSG00000164347 chr5:74726104-74726105;-/C frameshift_variant False GGT6@p.P94S 1 0.375 ENSG00000167741 chr17:4559621-4559621;G/A missense_variant False GGCX@p.E575Q 1 0.163398693 ENSG00000115486 chr2:85551497-85551497;C/G missense_variant False GGH@p.G17R 1 0.272727273 ENSG00000137563 chr8:63038720-63038720;C/G missense_variant False GGCX@p.R704Q 1 0.227272727 ENSG00000115486 chr2:85550100-85550100;C/T missense_variant False GGCX@p.R57L 1 0.198529412 ENSG00000115486 chr2:85560859-85560859;C/A missense_variant False GGCX@p.R33Q 1 0.548387097 ENSG00000115486 chr2:85560931-85560931;C/T missense_variant False GGCX@p.L685V 1 0.3875 ENSG00000115486 chr2:85550586-85550586;A/C missense_variant False GGCX@p.E612Q 1 0.454545455 ENSG00000115486 chr2:85550979-85550979;C/G missense_variant False GGCX@p.E546K 1 0.189189189 ENSG00000115486 chr2:85551584-85551584;C/T missense_variant False GGA2@p.D301N 1 0.850877193 ENSG00000103365 chr16:23480750-23480750;C/T missense_variant False GGA3@p.V500F 1 0.297297297 ENSG00000125447 chr17:75239874-75239874;C/A missense_variant False GGA3@p.S175C 1 0.401960784 ENSG00000125447 chr17:75243067-75243067;G/C missense_variant False GGA3@p.S146T 1 0.105263158 ENSG00000125447 chr17:75243155-75243155;A/T missense_variant False GGA3@p.L49M 1 0.171428571 ENSG00000125447 chr17:75246565-75246565;G/T missense_variant False GGA2@p.S183F 1 0.341880342 ENSG00000103365 chr16:23488637-23488637;G/A missense_variant False GGA2@p.P509L 1 0.158730159 ENSG00000103365 chr16:23470090-23470090;G/A missense_variant False GGH@p.Q175H 1 0.222222222 ENSG00000137563 chr8:63024161-63024161;C/G missense_variant False GGH@p.S309C 1 0.111111111 ENSG00000137563 chr8:63015363-63015363;G/C missense_variant False GGN@p.R187K 1 0.230769231 ENSG00000179168 chr19:38386702-38386702;C/T missense_variant False GGN@p.S6L 1 0.375 ENSG00000179168 chr19:38387245-38387245;G/A missense_variant False GGNBP2@p.D44N 1 0.425837321 ENSG00000278311 chr17:36554856-36554856;G/A missense_variant False GGNBP2@p.E105Q 1 0.189189189 ENSG00000278311 chr17:36557221-36557221;G/C missense_variant False GGNBP2@p.E207Q 1 0.192771084 ENSG00000278311 chr17:36567754-36567754;G/C missense_variant False GGNBP2@p.E404K 1 0.384615385 ENSG00000278311 chr17:36581533-36581533;G/A missense_variant False GGNBP2@p.E435K 1 0.331428571 ENSG00000278311 chr17:36585387-36585387;G/A missense_variant False GGNBP2@p.H305Y 1 0.342857143 ENSG00000278311 chr17:36579312-36579312;C/T missense_variant False GGNBP2@p.Q606H 1 0.118644068 ENSG00000278311 chr17:36587173-36587173;G/C missense_variant False GGNBP2@p.S501C 1 0.172727273 ENSG00000278311 chr17:36586059-36586059;C/G missense_variant False GGT1@p.G129E 1 0.315789474 ENSG00000100031 chr22:24620331-24620331;G/A missense_variant False GGT1@p.M458I 1 0.093333333 ENSG00000100031 chr22:24628118-24628118;G/A missense_variant False GGT5@p.D512H 1 0.5 ENSG00000099998 chr22:24225076-24225076;C/G missense_variant False GGT6@p.A298V 1 0.615384615 ENSG00000167741 chr17:4558604-4558604;G/A missense_variant False GGT6@p.G280E 1 0.75 ENSG00000167741 chr17:4558658-4558658;C/T missense_variant False GGA2@p.M154R 1 0.438202247 ENSG00000103365 chr16:23491691-23491691;A/C missense_variant False GGA1@p.M74I 1 0.213592233 ENSG00000100083 chr22:37618465-37618465;G/C missense_variant False GFM2@p.E541Q 1 0.15 ENSG00000164347 chr5:74730365-74730365;C/G missense_variant False GFPT1@p.P223A 1 0.056818182 ENSG00000198380 chr2:69354507-69354507;G/C missense_variant False GFPT2@p.R344W 1 0.43902439 ENSG00000131459 chr5:180316987-180316987;G/A missense_variant False GFPT2@p.I652T 1 0.131578947 ENSG00000131459 chr5:180302472-180302472;A/G missense_variant False GFPT2@p.G112D 1 0.541666667 ENSG00000131459 chr5:180335833-180335833;C/T missense_variant False GFPT2@p.D145H 1 0.204545455 ENSG00000131459 chr5:180330801-180330801;C/G missense_variant False GFPT1@p.S218Y 1 0.205128205 ENSG00000198380 chr2:69354521-69354521;G/T missense_variant False GFPT1@p.Q625K 1 0.12962963 ENSG00000198380 chr2:69328291-69328291;G/T missense_variant False GFPT1@p.H377D 1 0.166112957 ENSG00000198380 chr2:69342226-69342226;G/C missense_variant False GGA1@p.K114N 1 0.21 ENSG00000100083 chr22:37620276-37620276;G/C missense_variant False GFPT1@p.D78N 1 0.368421053 ENSG00000198380 chr2:69363662-69363662;C/T missense_variant False GFOD2@p.N122Y 1 0.110091743 ENSG00000141098 chr16:67675949-67675949;T/A missense_variant False GFOD1@p.P373S 1 0.365853659 ENSG00000145990 chr6:13364799-13364799;G/A missense_variant False GFOD1@p.M131I 1 0.835443038 ENSG00000145990 chr6:13365523-13365523;C/T missense_variant False GFM2@p.H587R 1 0.449438202 ENSG00000164347 chr5:74726093-74726093;T/C missense_variant False GFM2@p.E617Q 1 0.325 ENSG00000164347 chr5:74726004-74726004;C/G missense_variant False GFPT2@p.S304C 1 0.245283019 ENSG00000131459 chr5:180318840-180318840;G/C missense_variant False GFRA1@p.E71Q 1 0.391752577 ENSG00000151892 chr10:116270945-116270945;C/G missense_variant False GFRA1@p.G291W 1 0.277777778 ENSG00000151892 chr10:116096664-116096664;C/A missense_variant False GFRA1@p.I219M 1 0.184615385 ENSG00000151892 chr10:116125334-116125334;G/C missense_variant False GFRA1@p.I255M 1 0.377777778 ENSG00000151892 chr10:116125226-116125226;G/C missense_variant False GFRA2@p.D39N 1 0.375 ENSG00000168546 chr8:21782825-21782825;C/T missense_variant False GFRA2@p.G409R 1 0.214285714 ENSG00000168546 chr8:21694511-21694511;C/T missense_variant False GFRA3@p.D176N 1 0.316455696 ENSG00000146013 chr5:138257898-138257898;C/T missense_variant False GFRA3@p.S159L 1 0.375 ENSG00000146013 chr5:138257948-138257948;G/A missense_variant False GFRAL@p.D281G 1 0.100628931 ENSG00000187871 chr6:55359028-55359028;A/G missense_variant False GFRAL@p.I390L 1 0.435897436 ENSG00000187871 chr6:55401836-55401836;A/T missense_variant False GFRAL@p.K153N 1 0.299319728 ENSG00000187871 chr6:55351341-55351341;A/C missense_variant False GFRAL@p.T285M 1 0.203389831 ENSG00000187871 chr6:55359040-55359040;C/T missense_variant False GFUS@p.D151N 1 0.383561644 ENSG00000104522 chr8:143614637-143614637;C/T missense_variant False GFUS@p.F165L 1 0.083333333 ENSG00000104522 chr8:143614423-143614423;G/T missense_variant False GGA1@p.E343K 1 0.224137931 ENSG00000100083 chr22:37625883-37625883;G/A missense_variant False GGA1@p.E39K 1 0.2 ENSG00000100083 chr22:37614261-37614261;G/A missense_variant False GJD4@p.R109C 1 0.452380952 ENSG00000177291 chr10:35607838-35607838;C/T missense_variant False GJD4@p.V217F 1 0.384615385 ENSG00000177291 chr10:35608162-35608162;G/T missense_variant False GK2@p.D221N 1 0.112359551 ENSG00000196475 chr4:79407540-79407540;C/T missense_variant False GLUD1@p.A251T 1 0.157894737 ENSG00000148672 chr10:87062826-87062826;C/T missense_variant False GLUD2@p.G433A 1 0.366666667 ENSG00000182890 chrX:121048982-121048982;G/C missense_variant False GLUD2@p.E472D 1 0.921875 ENSG00000182890 chrX:121049100-121049100;G/T missense_variant False GLUD2@p.A491V 1 0.134020619 ENSG00000182890 chrX:121049156-121049156;C/T missense_variant False GLUD1@p.M290I 1 0.355555556 ENSG00000148672 chr10:87062707-87062707;C/T missense_variant False GLUD1@p.E55Q 1 0.745098039 ENSG00000148672 chr10:87094607-87094607;C/G missense_variant False GLUD1@p.E403K 1 0.207843137 ENSG00000148672 chr10:87060232-87060232;C/T missense_variant False GLTPD2@p.P43A 1 0.411764706 ENSG00000182327 chr17:4789246-4789246;C/G missense_variant False GLT8D1@p.L288V 1 0.338028169 ENSG00000016864 chr3:52695253-52695253;G/C missense_variant False GLTPD2@p.F56L 1 0.846153846 ENSG00000182327 chr17:4789287-4789287;C/A missense_variant False GLTP@p.M201I 1 0.491803279 ENSG00000139433 chr12:109852582-109852582;C/A missense_variant False GLTP@p.I45M 1 0.184357542 ENSG00000139433 chr12:109858710-109858710;G/C missense_variant False GLTP@p.F23Pfs*129 1 0.210526316 ENSG00000139433 chr12:109880290-109880309;GGGACACCGCCTCGAGGAAG/- frameshift_variant False GLTP@p.E19K 1 0.166666667 ENSG00000139433 chr12:109880320-109880320;C/T missense_variant False GLT8D2@p.Q191E 1 0.071428571 ENSG00000120820 chr12:103996764-103996764;G/C missense_variant False GLUD2@p.L293* 1 0.227586207 ENSG00000182890 chrX:121048559-121048559;T/- frameshift_variant False GLUD2@p.L454F 1 0.040816327 ENSG00000182890 chrX:121049046-121049046;G/C missense_variant False GLUD2@p.M317I 1 0.268041237 ENSG00000182890 chrX:121048635-121048635;G/C missense_variant False GLUD2@p.R124C 1 0.409090909 ENSG00000182890 chrX:121048054-121048054;C/T missense_variant False GLUD2@p.S157T 1 0.330097087 ENSG00000182890 chrX:121048154-121048154;G/C missense_variant False GLUD2@p.T490M 1 0.49790795 ENSG00000182890 chrX:121049153-121049153;C/T missense_variant False GLUD2@p.V488L 1 0.101694915 ENSG00000182890 chrX:121049146-121049146;G/T missense_variant False GLUL@p.D311Y 1 0.178947368 ENSG00000135821 chr1:182384596-182384596;C/A missense_variant False GLUL@p.S313F 1 0.165137615 ENSG00000135821 chr1:182384589-182384589;G/A missense_variant False GLUL@p.T116I 1 0.141361257 ENSG00000135821 chr1:182386384-182386384;G/A missense_variant False GLYAT@p.E138K 1 0.169172932 ENSG00000149124 chr11:58710666-58710666;C/T missense_variant False GLYAT@p.E213K 1 0.186915888 ENSG00000149124 chr11:58710020-58710020;C/T missense_variant False GLYAT@p.L133I 1 0.424528302 ENSG00000149124 chr11:58710681-58710681;G/T missense_variant False GLYATL1@p.D66Y 1 0.24 ENSG00000166840 chr11:58954779-58954779;G/T missense_variant False GLYATL1@p.E214K 1 0.196721311 ENSG00000166840 chr11:58955758-58955758;G/A missense_variant False GLYATL1@p.E93D 1 0.390243902 ENSG00000166840 chr11:58954862-58954862;G/T missense_variant False GLYATL1@p.R100I 1 0.333333333 ENSG00000166840 chr11:58954882-58954882;G/T missense_variant False GLT8D1@p.W253C 1 0.25 ENSG00000016864 chr3:52695474-52695474;C/G missense_variant False GLT8D1@p.L109V 1 0.41025641 ENSG00000016864 chr3:52697725-52697725;G/C missense_variant False GLYATL1@p.S226F 1 0.318181818 ENSG00000166840 chr11:58955795-58955795;C/T missense_variant False GLRA3@p.M51V 1 0.48 ENSG00000145451 chr4:174788864-174788864;T/C missense_variant False GLRB@p.R298K 1 0.211267606 ENSG00000109738 chr4:157143948-157143948;G/A missense_variant False GLRB@p.E402K 1 0.724137931 ENSG00000109738 chr4:157170438-157170438;G/A missense_variant False GLRB@p.E363K 1 0.341463415 ENSG00000109738 chr4:157152900-157152900;G/A missense_variant False GLRA4@p.R353Q 1 0.217391304 ENSG00000188828 chrX:103713545-103713545;C/T missense_variant False GLRA3@p.S12L 1 0.396226415 ENSG00000145451 chr4:174828777-174828777;G/A missense_variant False GLRA3@p.Q99H 1 0.146788991 ENSG00000145451 chr4:174728669-174728669;C/G missense_variant False GLRA3@p.E333K 1 0.128571429 ENSG00000145451 chr4:174659128-174659128;C/T missense_variant False GLT8D1@p.E145* 1 0.326086957 ENSG00000016864 chr3:52696551-52696557;GGATTCC/- frameshift_variant False GLRA2@p.T233K 1 0.438596491 ENSG00000101958 chrX:14607251-14607251;C/A missense_variant False GLRA2@p.G35A 1 0.207920792 ENSG00000101958 chrX:14532274-14532274;G/C missense_variant False GLRA2@p.E111K 1 0.444444444 ENSG00000101958 chrX:14581243-14581243;G/A missense_variant False GLRA2@p.A306S 1 0.345454545 ENSG00000101958 chrX:14609191-14609191;G/T missense_variant False GLRA1@p.R344G 1 0.179487179 ENSG00000145888 chr5:151828950-151828950;G/C missense_variant False GLRA1@p.P107A 1 0.376623377 ENSG00000145888 chr5:151859942-151859942;G/C missense_variant False GLRX2@p.E42Q 1 0.081081081 ENSG00000023572 chr1:193101200-193101200;C/G missense_variant False GLRX2@p.M115I 1 0.14893617 ENSG00000023572 chr1:193097599-193097599;C/T missense_variant False GLRX3@p.D184N 1 0.201550388 ENSG00000108010 chr10:130166578-130166578;G/A missense_variant False GLRX3@p.L268V 1 0.202531646 ENSG00000108010 chr10:130171614-130171614;C/G missense_variant False GLRX@p.I19M 1 0.408163265 ENSG00000173221 chr5:95822606-95822606;G/C missense_variant False GLS2@p.D74N 1 0.211267606 ENSG00000135423 chr12:56480350-56480350;C/T missense_variant False GLS2@p.E173Q 1 0.484848485 ENSG00000135423 chr12:56479069-56479069;C/G missense_variant False GLS2@p.V569A 1 0.084337349 ENSG00000135423 chr12:56471590-56471590;A/G missense_variant False GLS@p.E425K 1 0.326530612 ENSG00000115419 chr2:190927330-190927330;G/A missense_variant False GLS@p.L323F 1 0.138888889 ENSG00000115419 chr2:190905157-190905157;G/C missense_variant False GLS@p.S165C 1 0.255555556 ENSG00000115419 chr2:190895614-190895614;C/G missense_variant False GLT1D1@p.A91T 1 0.125 ENSG00000151948 chr12:128888692-128888692;G/A missense_variant False GLT1D1@p.D346N 1 0.230769231 ENSG00000151948 chr12:128983085-128983085;G/A missense_variant False GLT1D1@p.R102I 1 0.2 ENSG00000151948 chr12:128888726-128888726;G/T missense_variant False GLT6D1@p.I110M 1 0.866666667 ENSG00000204007 chr9:135624598-135624598;G/C missense_variant False GLT6D1@p.R108Q 1 0.25 ENSG00000204007 chr9:135624605-135624605;C/T missense_variant False GLT6D1@p.R32Q 1 0.603174603 ENSG00000204007 chr9:135631455-135631455;C/T missense_variant False GLYATL1@p.R239L 1 0.103896104 ENSG00000166840 chr11:58955834-58955834;G/T missense_variant False GLYATL2@p.K148E 1 0.430555556 ENSG00000156689 chr11:58837049-58837049;T/C missense_variant False GLRA1@p.G366A 1 0.413793103 ENSG00000145888 chr5:151822950-151822950;C/G missense_variant False GMPR@p.D272N 1 0.593939394 ENSG00000137198 chr6:16290578-16290578;G/A missense_variant False GNA11@p.A86T 1 0.606060606 ENSG00000088256 chr19:3110268-3110268;G/A missense_variant True GMPS@p.R337T 1 0.09009009 ENSG00000163655 chr3:155914542-155914542;G/C missense_variant False GMPS@p.N349Mfs*3 1 0.321428571 ENSG00000163655 chr3:155916023-155916023;C/- frameshift_variant False GMPS@p.K98N 1 0.504373178 ENSG00000163655 chr3:155898011-155898011;G/T missense_variant False GMPS@p.E386K 1 0.237288136 ENSG00000163655 chr3:155916136-155916136;G/A missense_variant False GMPR@p.M269I 1 0.062015504 ENSG00000137198 chr6:16290571-16290571;G/T missense_variant False GMPR2@p.E346Q 1 0.914285714 ENSG00000100938 chr14:24238767-24238767;G/C missense_variant False GMPPA@p.Q202E 1 0.233333333 ENSG00000144591 chr2:219504197-219504197;C/G missense_variant False GMPPB@p.S301F 1 0.119047619 ENSG00000173540 chr3:49722014-49722014;G/A missense_variant False GMPPB@p.S246L 1 0.210526316 ENSG00000173540 chr3:49722262-49722262;G/A missense_variant False GMPPB@p.E81Q 1 0.261904762 ENSG00000173540 chr3:49723272-49723272;C/G missense_variant False GMPPB@p.E328K 1 0.25 ENSG00000173540 chr3:49721853-49721853;C/T missense_variant False GMPPB@p.E304A 1 0.087719298 ENSG00000173540 chr3:49722005-49722005;T/G missense_variant False GMPPB@p.D282H 1 0.275362319 ENSG00000173540 chr3:49722072-49722072;C/G missense_variant False GNA11@p.E307K 1 0.264150943 ENSG00000088256 chr19:3121018-3121018;G/A missense_variant True GNA12@p.D336H 1 0.230769231 ENSG00000146535 chr7:2731321-2731321;C/G missense_variant False GNA12@p.D336_R340delinsE 1 0.404761905 ENSG00000146535 chr7:2731308-2731319;CGTCTCTTCCTG/- inframe_deletion False GNA12@p.R94H 1 0.411764706 ENSG00000146535 chr7:2843881-2843881;C/T missense_variant False GNA13@p.E58K 1 0.213872832 ENSG00000120063 chr17:65056422-65056422;C/T missense_variant False GNA13@p.F272_I275del 1 0.102803738 ENSG00000120063 chr17:65014567-65014578;ATTGTTTCAAAA/- inframe_deletion False GNA13@p.G135E 1 0.325842697 ENSG00000120063 chr17:65053608-65053608;C/T missense_variant False GNA13@p.K121N 1 0.197674419 ENSG00000120063 chr17:65053649-65053649;C/G missense_variant False GNA13@p.R200K 1 0.296296296 ENSG00000120063 chr17:65014792-65014792;C/T missense_variant False GNA13@p.S7L 1 0.46875 ENSG00000120063 chr17:65056574-65056574;G/A missense_variant False GNA14@p.E10K 1 0.285714286 ENSG00000156049 chr9:77647766-77647766;C/T missense_variant False GNA15@p.M187T 1 0.065420561 ENSG00000060558 chr19:3151781-3151781;T/C missense_variant False GNA15@p.T270I 1 0.140151515 ENSG00000060558 chr19:3157792-3157792;C/T missense_variant False GNA15@p.W139C 1 0.052631579 ENSG00000060558 chr19:3150217-3150217;G/C missense_variant False GNAI1@p.D315N 1 0.361111111 ENSG00000127955 chr7:80217371-80217371;G/A missense_variant False GNAI1@p.R313T 1 0.357142857 ENSG00000127955 chr7:80217366-80217366;G/C missense_variant False GNAI1@p.V109M 1 0.171171171 ENSG00000127955 chr7:80199246-80199246;G/A missense_variant False GMPPA@p.T161P 1 0.52173913 ENSG00000144591 chr2:219502433-219502433;A/C missense_variant False GMNN@p.E104Q 1 0.392857143 ENSG00000112312 chr6:24784122-24784122;G/C missense_variant False GLYATL2@p.R58Q 1 0.229166667 ENSG00000156689 chr11:58838274-58838274;C/T missense_variant False GLYR1@p.G271A 1 0.393617021 ENSG00000140632 chr16:4817692-4817692;C/G missense_variant False GMDS@p.I76T 1 0.4 ENSG00000112699 chr6:2117477-2117477;A/G missense_variant False GMDS@p.E357K 1 0.527777778 ENSG00000112699 chr6:1624219-1624219;C/T missense_variant False GMCL1@p.K91N 1 0.615384615 ENSG00000087338 chr2:69837559-69837559;G/C missense_variant False GMCL1@p.H243Y 1 0.418918919 ENSG00000087338 chr2:69844165-69844165;C/T missense_variant False GMCL1@p.A370V 1 0.439393939 ENSG00000087338 chr2:69861314-69861314;C/T missense_variant False GLYR1@p.S248F 1 0.333333333 ENSG00000140632 chr16:4821443-4821443;G/A missense_variant False GLYR1@p.E226K 1 0.066666667 ENSG00000140632 chr16:4822880-4822880;C/T missense_variant False GML@p.F99Y 1 0.113636364 ENSG00000104499 chr8:142846509-142846509;T/A missense_variant False GLYR1@p.A199V 1 0.160583942 ENSG00000140632 chr16:4823849-4823849;G/A missense_variant False GLYCTK@p.W437L 1 0.543478261 ENSG00000168237 chr3:52292864-52292864;G/T missense_variant False GLYCTK@p.L182V 1 0.204918033 ENSG00000168237 chr3:52291761-52291761;C/G missense_variant False GLYCTK@p.E36Q 1 0.5 ENSG00000168237 chr3:52290448-52290448;G/C missense_variant False GLYCTK@p.E143K 1 0.14893617 ENSG00000168237 chr3:52291009-52291009;G/A missense_variant False GLYCTK@p.D150N 1 0.137254902 ENSG00000168237 chr3:52291030-52291030;G/A missense_variant False GMDS@p.M80I 1 0.457627119 ENSG00000112699 chr6:2115876-2115876;C/T missense_variant False GMDS@p.S211C 1 0.2 ENSG00000112699 chr6:1959879-1959879;T/A missense_variant False GMEB1@p.T462P 1 0.228813559 ENSG00000162419 chr1:28714435-28714435;A/C missense_variant False GMEB2@p.A145V 1 0.321428571 ENSG00000101216 chr20:63597784-63597784;G/A missense_variant False GMEB2@p.F469S 1 0.15625 ENSG00000101216 chr20:63590276-63590276;A/G missense_variant False GMFB@p.E60K 1 0.133333333 ENSG00000197045 chr14:54481431-54481431;C/T missense_variant False GMFB@p.R19T 1 0.260273973 ENSG00000197045 chr14:54483715-54483715;C/G missense_variant False GMFB@p.S53L 1 0.142857143 ENSG00000197045 chr14:54481451-54481451;G/A missense_variant False GMFG@p.R142C 1 0.205128205 ENSG00000130755 chr19:39328482-39328482;G/A missense_variant False GMIP@p.E236K 1 0.272727273 ENSG00000089639 chr19:19638242-19638242;C/T missense_variant False GMIP@p.E507K 1 0.207207207 ENSG00000089639 chr19:19635456-19635456;C/T missense_variant False GMIP@p.E574K 1 0.157894737 ENSG00000089639 chr19:19635054-19635054;C/T missense_variant False GMIP@p.E935Q 1 0.307692308 ENSG00000089639 chr19:19630073-19630073;C/G missense_variant False GMIP@p.E950K 1 0.375 ENSG00000089639 chr19:19630028-19630028;C/T missense_variant False GMIP@p.K648N 1 0.382022472 ENSG00000089639 chr19:19634647-19634647;C/G missense_variant False GMIP@p.Q829H 1 0.606299213 ENSG00000089639 chr19:19630523-19630523;C/G missense_variant False GMIP@p.Q832H 1 0.263157895 ENSG00000089639 chr19:19630514-19630514;C/A missense_variant False GLRA1@p.I423L 1 0.522727273 ENSG00000145888 chr5:151822780-151822780;T/G missense_variant False GLP2R@p.K2N 1 0.205882353 ENSG00000065325 chr17:9826069-9826069;G/C missense_variant False GK2@p.D259N 1 0.29 ENSG00000196475 chr4:79407426-79407426;C/T missense_variant False GLDC@p.S401Y 1 0.29375 ENSG00000178445 chr9:6595073-6595073;G/T missense_variant False GLDN@p.T338A 1 0.516431925 ENSG00000186417 chr15:51400483-51400483;A/G missense_variant False GLDN@p.P76L 1 0.176470588 ENSG00000186417 chr15:51341911-51341911;C/T missense_variant False GLDN@p.M113I 1 0.272727273 ENSG00000186417 chr15:51342023-51342023;G/A missense_variant False GLDN@p.G142V 1 0.116959064 ENSG00000186417 chr15:51383445-51383445;G/T missense_variant False GLDN@p.F349L 1 0.101123596 ENSG00000186417 chr15:51401612-51401612;C/G missense_variant False GLDC@p.S492L 1 0.414141414 ENSG00000178445 chr9:6592150-6592150;G/A missense_variant False GLDC@p.S401F 1 0.210526316 ENSG00000178445 chr9:6595073-6595073;G/A missense_variant False GLCE@p.G531E 1 0.315068493 ENSG00000138604 chr15:69268982-69268982;G/A missense_variant False GLDC@p.R506T 1 0.517647059 ENSG00000178445 chr9:6589258-6589258;C/G missense_variant False GLDC@p.G156V 1 0.172413793 ENSG00000178445 chr9:6620187-6620187;C/A missense_variant False GLDC@p.F870L 1 0.161538462 ENSG00000178445 chr9:6540106-6540106;G/C missense_variant False GLDC@p.D436H 1 0.157894737 ENSG00000178445 chr9:6592946-6592946;C/G missense_variant False GLCE@p.S595Y 1 0.103448276 ENSG00000138604 chr15:69269174-69269174;C/A missense_variant False GLCE@p.S469L 1 0.375 ENSG00000138604 chr15:69268796-69268796;C/T missense_variant False GLE1@p.L262M 1 0.195652174 ENSG00000119392 chr9:128523733-128523733;C/A missense_variant False GLE1@p.M542Nfs*83 1 0.109090909 ENSG00000119392 chr9:128533924-128533925;-/G frameshift_variant False GLG1@p.M1164V 1 0.291338583 ENSG00000090863 chr16:74453217-74453217;T/C missense_variant False GLG1@p.P633A 1 0.590361446 ENSG00000090863 chr16:74477464-74477464;G/C missense_variant False GLG1@p.R573C 1 0.285714286 ENSG00000090863 chr16:74480351-74480351;G/A missense_variant False GLG1@p.R750W 1 0.436619718 ENSG00000090863 chr16:74470055-74470055;G/A missense_variant False GLI1@p.A978P 1 0.333333333 ENSG00000111087 chr12:57471672-57471672;G/C missense_variant False GLI1@p.G127S 1 0.205128205 ENSG00000111087 chr12:57464858-57464858;G/A missense_variant False GLI1@p.G613R 1 0.220779221 ENSG00000111087 chr12:57470577-57470577;G/C missense_variant False GLI1@p.I423M 1 0.2 ENSG00000111087 chr12:57468185-57468185;C/G missense_variant False GLI1@p.L492V 1 0.44047619 ENSG00000111087 chr12:57469596-57469596;C/G missense_variant False GLI1@p.N979S 1 0.235772358 ENSG00000111087 chr12:57471676-57471676;A/G missense_variant False GLI1@p.Q169E 1 0.191489362 ENSG00000111087 chr12:57465226-57465226;C/G missense_variant False GLI1@p.S1039F 1 0.137142857 ENSG00000111087 chr12:57471856-57471856;C/T missense_variant False GLI1@p.S116Y 1 0.435185185 ENSG00000111087 chr12:57464826-57464826;C/A missense_variant False GLI1@p.T475S 1 0.3 ENSG00000111087 chr12:57469546-57469546;C/G missense_variant False GLI2@p.A1055V 1 0.183333333 ENSG00000074047 chr2:120989129-120989129;C/T missense_variant False GLCE@p.R48T 1 0.146666667 ENSG00000138604 chr15:69255949-69255949;G/C missense_variant False GLCE@p.D291H 1 0.96 ENSG00000138604 chr15:69268261-69268261;G/C missense_variant False GLI2@p.A530V 1 0.196721311 ENSG00000074047 chr2:120982837-120982837;C/T missense_variant False GKAP1@p.E143Q 1 0.288288288 ENSG00000165113 chr9:83788612-83788612;C/G missense_variant False GLA@p.A318S 1 0.360294118 ENSG00000102393 chrX:101398417-101398417;C/A missense_variant False GKN2@p.D129N 1 0.056338028 ENSG00000183607 chr2:68946391-68946391;C/T missense_variant False GKN1@p.L11V 1 0.349514563 ENSG00000169605 chr2:68977513-68977513;C/G missense_variant False GKN1@p.G56E 1 0.524390244 ENSG00000169605 chr2:68977737-68977737;G/A missense_variant False GKAP1@p.I269M 1 0.182692308 ENSG00000165113 chr9:83753291-83753291;G/C missense_variant False GKAP1@p.E268K 1 0.2375 ENSG00000165113 chr9:83753296-83753296;C/T missense_variant False GK@p.L145V 1 0.785714286 ENSG00000198814 chrX:30694418-30694418;C/G missense_variant False GLCCI1@p.Y388C 1 0.163934426 ENSG00000106415 chr7:8071117-8071117;A/G missense_variant False GK@p.A111T 1 0.534246575 ENSG00000198814 chrX:30677446-30677446;G/A missense_variant False GK2@p.V137D 1 0.103030303 ENSG00000196475 chr4:79407791-79407791;A/T missense_variant False GK2@p.R377T 1 0.192592593 ENSG00000196475 chr4:79407071-79407071;C/G missense_variant False GK2@p.M227I 1 0.161904762 ENSG00000196475 chr4:79407520-79407520;C/T missense_variant False GK2@p.E453K 1 0.604395604 ENSG00000196475 chr4:79406844-79406844;C/T missense_variant False GK2@p.D344G 1 0.489932886 ENSG00000196475 chr4:79407170-79407170;T/C missense_variant False GLA@p.D155H 1 0.409638554 ENSG00000102393 chrX:101401716-101401716;C/G missense_variant False GLB1@p.E339K 1 0.285714286 ENSG00000170266 chr3:33046173-33046173;C/T missense_variant False GLB1@p.E478D 1 0.184 ENSG00000170266 chr3:33016754-33016754;C/G missense_variant False GLB1@p.L146V 1 0.25 ENSG00000170266 chr3:33068251-33068251;G/C missense_variant False GLB1@p.P666L 1 0.345 ENSG00000170266 chr3:32997082-32997082;G/A missense_variant False GLB1@p.W582C 1 0.316666667 ENSG00000170266 chr3:32997333-32997333;C/A missense_variant False GLB1L2@p.I305V 1 0.134615385 ENSG00000149328 chr11:134368667-134368667;A/G missense_variant False GLB1L2@p.L133M 1 0.3125 ENSG00000149328 chr11:134345077-134345077;C/A missense_variant False GLB1L2@p.N313K 1 0.09 ENSG00000149328 chr11:134368693-134368693;C/A missense_variant False GLB1L2@p.R519K 1 0.3125 ENSG00000149328 chr11:134373769-134373769;G/A missense_variant False GLB1L3@p.A407V 1 0.492957746 ENSG00000166105 chr11:134311103-134311103;C/T missense_variant False GLB1L3@p.E260K 1 0.358490566 ENSG00000166105 chr11:134292180-134292180;G/A missense_variant False GLB1L3@p.P396L 1 0.831932773 ENSG00000166105 chr11:134311070-134311070;C/T missense_variant False GLB1L3@p.S425C 1 0.360946746 ENSG00000166105 chr11:134311157-134311157;C/G missense_variant False GLB1L3@p.T354A 1 0.5 ENSG00000166105 chr11:134309724-134309724;A/G missense_variant False GLB1L@p.R71Q 1 0.362068966 ENSG00000163521 chr2:219243175-219243175;C/T missense_variant False GLCCI1@p.R168K 1 0.166666667 ENSG00000106415 chr7:8003953-8003953;G/A missense_variant False GLI2@p.A1345T 1 0.333333333 ENSG00000074047 chr2:120989998-120989998;G/A missense_variant False GLI2@p.E127Sfs*15 1 0.35 ENSG00000074047 chr2:120951366-120951366;G/- frameshift_variant False GLP2R@p.A323E 1 0.541176471 ENSG00000065325 chr17:9861181-9861181;C/A missense_variant False GLIS1@p.T95K 1 0.228571429 ENSG00000174332 chr1:53594619-53594619;G/T missense_variant False GLIS3@p.G608E 1 0.443478261 ENSG00000107249 chr9:3879436-3879436;C/T missense_variant False GLIS3@p.E50Q 1 0.5 ENSG00000107249 chr9:4118865-4118865;C/G missense_variant False GLIS3@p.D520H 1 0.340206186 ENSG00000107249 chr9:3898796-3898796;C/G missense_variant False GLIS2@p.E22D 1 0.216666667 ENSG00000126603 chr16:4332346-4332346;G/C missense_variant False GLIS2@p.D44N 1 0.153846154 ENSG00000126603 chr16:4332410-4332410;G/A missense_variant False GLIS1@p.V190L 1 0.133333333 ENSG00000174332 chr1:53594335-53594335;C/A missense_variant False GLIS1@p.R105W 1 0.255319149 ENSG00000174332 chr1:53594590-53594590;G/A missense_variant False GLIPR1L2@p.D154Y 1 0.142857143 ENSG00000180481 chr12:75410659-75410659;G/T missense_variant False GLIS1@p.K225N 1 0.115384615 ENSG00000174332 chr1:53594228-53594228;C/G missense_variant False GLIS1@p.E364K 1 0.368421053 ENSG00000174332 chr1:53520745-53520745;C/T missense_variant False GLIS1@p.E259K 1 0.375 ENSG00000174332 chr1:53594128-53594128;C/T missense_variant False GLIS1@p.D362N 1 0.333333333 ENSG00000174332 chr1:53520751-53520751;C/T missense_variant False GLIPR1L2@p.V82I 1 0.142857143 ENSG00000180481 chr12:75410443-75410443;G/A missense_variant False GLIPR1L2@p.E204K 1 0.268292683 ENSG00000180481 chr12:75422929-75422929;G/A missense_variant False GLIS3@p.K144N 1 0.087912088 ENSG00000107249 chr9:4118581-4118581;C/G missense_variant False GLIS3@p.M2I 1 0.488372093 ENSG00000107249 chr9:4125859-4125859;C/T missense_variant False GLIS3@p.R504S 1 0.172413793 ENSG00000107249 chr9:3932366-3932366;C/A missense_variant False GLMN@p.E278Q 1 0.220183486 ENSG00000174842 chr1:92271556-92271556;C/G missense_variant False GLMN@p.E79Q 1 0.138461538 ENSG00000174842 chr1:92291468-92291468;C/G missense_variant False GLMN@p.G543A 1 0.170588235 ENSG00000174842 chr1:92247102-92247102;C/G missense_variant False GLMP@p.A377_G382del 1 0.234636872 ENSG00000198715 chr1:156293119-156293136;CCCTGGGGCACCCAGGGC/- inframe_deletion False GLMP@p.W157C 1 0.311111111 ENSG00000198715 chr1:156294473-156294473;C/G missense_variant False GLO1@p.D110N 1 0.13740458 ENSG00000124767 chr6:38682856-38682856;C/T missense_variant False GLOD4@p.R24W 1 0.357142857 ENSG00000167699 chr17:782186-782186;G/A missense_variant False GLOD4@p.R5T 1 0.263157895 ENSG00000167699 chr17:782242-782242;C/G missense_variant False GLOD5@p.L151M 1 0.336734694 ENSG00000171433 chrX:48773403-48773403;C/A missense_variant False GLOD5@p.N156K 1 0.38372093 ENSG00000171433 chrX:48773420-48773420;C/A missense_variant False GLOD5@p.R132K 1 0.512820513 ENSG00000171433 chrX:48773347-48773347;G/A missense_variant False GLP1R@p.I196M 1 0.255102041 ENSG00000112164 chr6:39072940-39072940;C/G missense_variant False GLP1R@p.L314I 1 0.455357143 ENSG00000112164 chr6:39079012-39079012;C/A missense_variant False GLP1R@p.R419C 1 0.422680412 ENSG00000112164 chr6:39085936-39085936;C/T missense_variant False GLIPR1L2@p.E140D 1 0.2375 ENSG00000180481 chr12:75410619-75410619;G/C missense_variant False GLIPR1L1@p.D54N 1 0.235294118 ENSG00000173401 chr12:75334888-75334888;G/A missense_variant False GLI2@p.E414Q 1 0.376237624 ENSG00000074047 chr2:120975032-120975032;G/C missense_variant False GLI2@p.S33C 1 0.051020408 ENSG00000074047 chr2:120797418-120797418;C/G missense_variant False GLI3@p.G1420S 1 0.238410596 ENSG00000106571 chr7:41964815-41964815;C/T missense_variant False GLI3@p.E746K 1 0.179487179 ENSG00000106571 chr7:41967791-41967791;C/T missense_variant False GLI3@p.D1495N 1 0.217391304 ENSG00000106571 chr7:41964590-41964590;C/T missense_variant False GLI3@p.D1157N 1 0.170658683 ENSG00000106571 chr7:41965604-41965604;C/T missense_variant False GLI3@p.C1416F 1 0.413793103 ENSG00000106571 chr7:41964826-41964826;C/A missense_variant False GLI2@p.V578I 1 0.433333333 ENSG00000074047 chr2:120984570-120984570;G/A missense_variant False GLI2@p.R539G 1 0.162601626 ENSG00000074047 chr2:120982863-120982863;C/G missense_variant False GLIPR1L1@p.A65del 1 0.094202899 ENSG00000173401 chr12:75343710-75343712;AGC/- inframe_deletion False GLI2@p.R217H 1 0.275167785 ENSG00000074047 chr2:120968720-120968720;G/A missense_variant False GLI2@p.Q618L 1 0.558139535 ENSG00000074047 chr2:120984691-120984691;A/T missense_variant False GLI2@p.P221L 1 0.271428571 ENSG00000074047 chr2:120968732-120968732;C/T missense_variant False GLI2@p.L35F 1 0.415730337 ENSG00000074047 chr2:120797425-120797425;G/T missense_variant False GLI2@p.H1262R 1 0.46969697 ENSG00000074047 chr2:120989750-120989750;A/G missense_variant False GLI2@p.E595K 1 0.25 ENSG00000074047 chr2:120984621-120984621;G/A missense_variant False GLI3@p.G735V 1 0.12 ENSG00000106571 chr7:41967823-41967823;C/A missense_variant False GLI3@p.L1231I 1 0.297468354 ENSG00000106571 chr7:41965382-41965382;G/T missense_variant False GLI3@p.L567F 1 0.275862069 ENSG00000106571 chr7:41977669-41977669;C/G missense_variant False GLI3@p.P1117L 1 0.232673267 ENSG00000106571 chr7:41965723-41965723;G/A missense_variant False GLI3@p.P1482S 1 0.433962264 ENSG00000106571 chr7:41964629-41964629;G/A missense_variant False GLI3@p.R1394C 1 0.179775281 ENSG00000106571 chr7:41964893-41964893;G/A missense_variant False GLI3@p.R950K 1 0.454545455 ENSG00000106571 chr7:41966224-41966224;C/T missense_variant False GLI3@p.S1063F 1 0.118644068 ENSG00000106571 chr7:41965885-41965885;G/A missense_variant False GLI3@p.T1037M 1 0.227272727 ENSG00000106571 chr7:41965963-41965963;G/A missense_variant False GLI4@p.E208D 1 0.52173913 ENSG00000250571 chr8:143276297-143276297;G/C missense_variant False GLI4@p.E292Q 1 0.545454545 ENSG00000250571 chr8:143276547-143276547;G/C missense_variant False GLI4@p.E312K 1 0.285714286 ENSG00000250571 chr8:143276607-143276607;G/A missense_variant False GLI4@p.E376Q 1 0.3 ENSG00000250571 chr8:143276799-143276799;G/C missense_variant False GLIPR1@p.D145Y 1 0.481481481 ENSG00000139278 chr12:75490418-75490418;G/T missense_variant False GLIPR1@p.D32N 1 0.321428571 ENSG00000139278 chr12:75480974-75480974;G/A missense_variant False GLIPR1@p.E98D 1 0.207207207 ENSG00000139278 chr12:75481953-75481953;G/C missense_variant False GLIPR1@p.R188T 1 0.466666667 ENSG00000139278 chr12:75495606-75495606;G/C missense_variant False ZZZ3@p.V273Cfs*10 1 0.122222222 ENSG00000036549 chr1:77632539-77632539;T/- frameshift_variant False